question

ACE Inhibitors (teratogen effect)

answer

Renal damage

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Alkylating agents (teratogen effect)

answer

Absence of digits, multiple anomalies

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Aminoglycosides (teratogen effect)

answer

CN VIII toxicity (A mean guy hit the baby in the ear)

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Carbamazepine (teratogen effect)

answer

Neural tube defects, craniofacial defects, fingernail hypoplasia, developmental delay, IUGR

question

Diethystilbestrol (DES) (teratogen effect)

answer

Vaginal clear cell adenocarcinoma, congenital Mullerian anomalies (T shaped uterus)

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Folate antagonists (teratogen effect)

answer

NTDs

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Lithium (teratogen effect)

answer

Ebstein's anomaly (atrialized right ventricle)

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Phenytoin (teratogen effect)

answer

Fetal hydantoin syndrome: microcephaly, dysmorphic craniofacial features, hypoplastic nails and distal phalanges, cardiac defects, IUGR, mental retardation

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Tetracyclines (teratogen effect)

answer

Discolored teeth, growth retardation

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Thalidomide (teratogen effect)

answer

Limb defects (flipper limbs)

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Valproate (teratogen effect)

answer

Inhibition of maternal folate absorption (NTDs)

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Warfarin (teratogen effect)

answer

Bone deformities, fetal hemorrhage, abortion, ophthalmologic abnormalities (use HEPARIN in pregnancy!!)

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Alcohol (teratogen effect)

answer

Fetal alcohol syndrome *leading cause of birth defects and mental retardation

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Cocaine (teratogen effect)

answer

Abnormal fetal development and fetal addiction, placental abruption, renal a genesis, heart defects

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Smoking (teratogen effect)

answer

Preterm labor, placental problems, IUGR, ADHD

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Iodide (teratogen effect)

answer

Congenital goiter or hypothyroidism (cretinism)

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Maternal diabetes (teratogen effect)

answer

Caudal regression syndrome (anal atresia to sirenomelia- legs fused together "mermaid syndrome"), congenital heart defects, NTDs, hypertrophic CM, macrosomia, hypoglycemia

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Vitamin A (teratogen effect)

answer

Extremely high risk for spontaneous abortions and birth defects (cleft palate, cardiac abnormalities)

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X-rays (teratogen effect)

answer

Microcephaly, mental retardation

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Bugs that stain with Giemsa

answer

Chalmydia, Borrelia, Rickettsia, Trypanosomes, Plasmodium (Certain bugs really try my patience)

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Bugs that stain PAS+

answer

Stains glycogen, mucopolysaccharides- used to diagnose Whipples disease (Tropheryma whipplei)

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Bugs that stain Ziehl-Neelson (carbol fuschion)

answer

Acid-fast organisms (Nocardia, Mycobacterium)

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Bugs that stain with India Ink

answer

Cryptococcus neoformans (mucicarmine can also be used to stain thick polysaccharide capsule red)

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Bugs that stain with silver stain

answer

Fungi (PCP), Legionella, H. pylori

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What bug needs chocolate agar with factors V (NAD+) and X (hematin)

answer

H. influenza

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What bug needs Thayer-Martin (VPN) media?

answer

N. gonorrhea, N. meningitidis (VPN- vancomycin inhibits gram positives, Polymyxin inhibits most gram negs, Nystatin inhibits fungi)

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What bug needs Bordet-Gengou (potato) agar?

answer

Bordetella pertussis (BORDET needs BORDET)

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What bug needs Tellurite plate or Lofflers media?

answer

Corynebacterium diptheria (Cysteine-Tellurite agar - forms black colonies)

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What bug needs Lowenstein-Jensen agar?

answer

M. Tb

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What bug needs Eaton's agar?

answer

M. Pneumoniae

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What bugs form pink colonies on MacConkeys agar?

answer

Lactose-fermenting enterics (E. Coli, etc)

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What bug can grow on eosin-methylene blue (EMB) agar as green colonies with metallic sheen?

answer

E. Coli

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What bug grows on charcoal yeast extract buffered with cysteine and iron?

answer

Legionella

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What bug grows on Sabouraud's agar?

answer

Fungi (Sab's a FUN guy?)... never heard of a guy named Sab

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Encapsulated bacteria

answer

Strep pneumo, H. influenza type B, Neisseria meningitidis, E. Coli, Salmonella, Klebsiella pneumo, group B strep (SHiNE SKiS) Capsules = ANTIPHAGOCYTIC virulence factor opsonized and cleared by spleen, increased risk in asplenic patients

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Catalase + organisms

answer

Pseudomonas, Listeria, Aspergillus, Candida, E. coli, Staph aureus, Serratia *increased risk in chronic granulomatous disease (NADPH oxidase deficiency) You need PLACESS for your CATs

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Bacteria producing Protein A

answer

Staph aureus (prevents opsonization), binds Fc portion of Ig

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Bacteria producing IgA protease?

answer

Strep pneumo, H influenza type B, Neisseria (SHiN) enzyme cleaves IgA

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Bacteria producing M protein

answer

Group A strep prevents phagocytosis

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Conjugated vaccines

answer

Strep pneumo, Neisseria, H. influenza *conjugate to diptheria toxin or tetanus toxin

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Bacteria that inhibit protein synthesis with exotoxin against EF-2

answer

Corynebacterium diptheria Pseudomonas aeruginosa

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Bacteria that inhibit protein synthesis by inactivating the 60S ribosome

answer

Shigella EHEC (shiga like toxin)

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Bacteria that increase fluid secretion via exotoxins

answer

ETEC (heat labile LT toxin) over activates cAMP (inc. Cl- secretion), ST toxin over activates cGMP (decrease NaCl reabsorption) Bacillus anthracis (edema factor) - increases cAMP Vibrio cholerae (cholera toxin)- increases cAMP

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Bacteria that use exotoxin to inhibit phagocytosis

answer

Bordatella pertussis (Pertussis toxin)- increase cAMP, disables Gi, impairs phagocytosis

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Bacteria that inhibits release of NT via exotoxin

answer

Clostridium tetani (Tetanospasmin)- prevents release of inhibitory GABA leading to muscle rigidity and lock jaw Clostridium botulinum (botulinum toxin)- prevents release of ACh leading to flaccid paralysis

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Bacteria that use exotoxin to lyse cell membranes

answer

Clostridium perfringens (Alpha toxin, lecithinase)- phospholipase degrades cell membranes Strep pyogenes (streptolysin O)- degrades cell membranes, lyses RBCs

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Bacteria that use super antigens to cause shock

answer

Staph aureus (TSST-1)- bring MHC class II and TCR in proximity causing overwhelming release of IFNgamma and IL-2 (toxic shock syndrome, scalded skin syndrome (exfoliatin), food poisoning (enterotoxin) Strep pyogenes (exotoxin A)- same mechanism, causes toxic shock syndrome

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What endocrine hormones use cAMP signaling pathway?

answer

FLAT ChAMP FSH, LH, ACTH, TSH, CRH, hCG, ADH (V2), MSH, PTH Calcitonin, GHRH, glucagon

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What endocrine hormones use cGMP signaling pathway?

answer

ANP, NO (EDRF) **think vasodilators

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What endocrine hormones use IP3 signaling pathway?

answer

GGOAT GnRH, GHRH (sometimes), Oxytocin, ADH (V1), TRH, histamine (H1), ATII, gastrin *also alpha1-rec, M1 and M3 (HAV 1 M&M)

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What endocrine hormones use steroid receptor signaling pathway?

answer

Vitamin D, Estrogen, Testosterone, T3/T4, Cortisol, Aldosterone, Progesterone *VETTT CAP

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Nuclear receptors

answer

Thyroid hormone, Retinoids, PPAR, Fatty acids

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Cytoplasmic receptors

answer

Steroids, Androgens, Estrogen

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What endocrine hormones use intrinsic tyrosine kinase signaling pathway?

answer

Insulin, IGF-1, FGF, PDGF, EGF **MAP-Kinase pathway (think growth factors)

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What endocrine hormones use receptor-associated tyrosine kinase signaling pathway?

answer

Prolactin, Immunoglobulins (cytokines IL2, IL6, IL8, IFN), GH **Jak-STAT pathway (PIG)

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What adrenergic receptors use Gi signaling?

answer

M2, alpha2, D2 (MAD 2's) *Decreased cAMP

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What adrenergic receptors use Gq signaling?

answer

H1, alpha1, V1, M1, M3 (HAV 1 M&M) *IP3 mechanism

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What adrenergic receptors use Gs signaling?

answer

B1, B2, D1, H2, V2 *Increased cAMP

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Thyroid receptor

answer

thyroxine-binding globulin (TBG) and it has a nuclear receptor

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Hashimotos thyroiditis is associated with:

answer

Hypothyroidism Ab against thyroid peroxidase, antithyroglobulin Ab HLA-DR5 Hurthle cells, lymphocytic infiltrate, germinal center Increased risk B cell lymphoma

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Cretinism associated with:

answer

5 P's Pot-belly, puffy face, pale, protruding umbilicus, protuberant tongue (severe fetal hypothyroidism)

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Subacute (de Quervains) thyroiditis is associated with:

answer

Self-limited hypothyroidism following flu-like illness *Granulomatous inflammation *PAINFUL, inc. ESR, jaw pain

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Reidels thyroiditis is associated with:

answer

Hypothyroidism due to replacement by fibrous tissue *PAINLESS + antithyroid peroxidase Ab

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Graves disease associated with:

answer

Autoimmune hyperthyroidism Thyroid-stimulating Ig, opthalmopathy, pretibial myxedema *HLA-B8, Dr3

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Papillary thyroid carcinoma

answer

Most common thyroid cancer Empty-appearing nuclei (orphan annie) Psammoma bodies Nuclear grooves *EXCELLENT PROGNOSIS

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Follicular thyroid carcinoma

answer

Uniform follicles WITH INVASION through capsule Can spread hematogenously to lung/bone

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Medullary thyroid carcinoma

answer

From parafollicular "c" cells Produces calcitonin Sheets of cells in amyloid stroma Associated with MEN 2A and 2B

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Undifferentiated/anaplastic thyroid carcinoma

answer

Most malignant, very aggressive, worst prognosis Universally FATAL

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Hot thyroid nodules

answer

Graves, toxic goiter (rarely malignant)

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Cold thyroid nodules

answer

cyst, adenoma, cancer

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Thyroglobulin

answer

Marker for papillary and follicular thyroid cancer

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Pseudohypoparathyroidism

answer

Albright's hereditary osteodystrophy AD, kidney unresponsiveness to PTH Hypocalcemia, short 4th/5th digits, short stature *Not correctable w/ exogenous PTH

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Chvosteks sign

answer

Tapping of facial nerve --> contraction of facial muscles (hypocalcemia, tetany)

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Trousseaus sign

answer

Occlusion of brachial artery with BP cuff --> carpal spasm

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Sonic hedgehog gene controls:

answer

patterning along anterior-posterior axis, CNS development (failure --> holoprosencephaly)

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Wnt-7 gene controls:

answer

organization along dorsal-ventral axis

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FGF gene controls:

answer

lengthening of limbs, stimulates mitosis of mesoderm

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Homeobox gene controls:

answer

segmental organization of the embryo in cranio-caudal direction, Hox mutations lead to appendages in the wrong locations (ex. Hand-foot-genital syndrome)

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Surface ectoderm derivatives

answer

adenohypophysis (Rathke's pouch), lens of eye, epithelial lining of oral cavity, sensory organs of ear and olfactory epithelium, epidermis, anal canal below pectinate line, parotid, sweat and mammary glands

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Neuroectoderm derivatives

answer

brain (neurohypophysis, CNS neurons, oligodendrocytes, astrocytes, ependymal cells, pineal gland), retina and optic nerve, spinal cord

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Neural crest derivatives

answer

PNS (DRG, cranial nerves, celiac ganglion, schwann cells, ANS), melanocytes, chromaffin cells of adrenal medulla, parafollicular (C) cells of thyroid, pia and arachnoid, bones of skull, odontoblasts, aorticopulmonary septum

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Mesoderm derivatives

answer

muscle, bone, connective tissue, serous lining of body cavities (ex. peritoneum), spleen (derived from foregut mesentery), cardiovascular structures, lymphatics, blood, wall of gut tube, wall of bladder, urethra, vagina, kidneys, adrenal cortex, dermis, testes, ovaries

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Mesodermal defects

answer

VACTERL Vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal defects, limb defects (bone and muscle)

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Endoderm derivatives

answer

Gut tube epithelium (including anal canal above the pectinate line), luminal epithelial derivatives (lungs, liver, gallbladder, pancreas, eustachian tube, thymus, parathyroid, thyroid follicular cells)

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Fetal alcohol syndrome

answer

Mental retardation, microcephaly, holoprosencephaly, facial abnormalities, limb dislocation, heart and lung fistulas

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Dizygotic twins placenta

answer

dichorionic, diamniotic

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Most common monozygotic twin placenta type

answer

monochorionic, diamniotic (cleavage occurs at day 4-8 in 75% of monozygotic twin pregnancies)

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Urachal duct

answer

duct between bladder and yolk sac (derived from allantois) failure of obliteration can cause patent urachus (urine discharge from umbilicus), vesicourachal diverticulum (bladder outpouching), urachal sinus, urachal cyst

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Vitelline duct (omphalomesenteric)

answer

connects yolk sac to the midgut lumen failure of vitelline duct to close causes vitellines fistula (meconium discharge from umbilicus), meckels diverticulum, enterocyst

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1st aortic arch derivatives

answer

Maxillary artery Muscles of mastication, mylohyoid, anterior belly of digastric, tensor tympani, tensor veli palatini CN V2, V3 Meckels cartilage- mandible, malleus, incus, sphenomandibular ligament

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2nd aortic arch derivatives

answer

Stapedial artery and hyoid artery Muscles of facial expression (stapedius, stylohyoid) CN VII Reichert's cartilage- stapes, styloid process, lesser horn of hyoid, stylohyoid ligament

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3rd aortic arch derivatives

answer

Common carotid artery, part of internal carotid artery Stylopharyngeus CN IX (glossopharyngeal nerve) Cartilage- greater horn of hyoid

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4th aortic arch derivatives

answer

L side- aortic arch R side- proximal part of R. subclavian artery Pharyngeal constrictors, cricothyroid, levator veli palatini CN X (superior laryngeal branch) Cartilage- thyroid, cricoid, arytenoids, corniculate, cuneiform

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6th aortic arch derivatives

answer

Proximal part of pulmonary arteries and ductus arteriosus on left All intrinsic muscles of larynx (except cricothyroid) CN X (recurrent laryngeal branch) Cartilage (same as 4th arch)

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1st branchial pouch

answer

middle ear cavity, eustachian tube, mastoid air cells endoderm lined structures of the ear

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2nd branchial pouch

answer

epithelial lining of palatine tonsil

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3rd branchial pouch

answer

thymus (ventral wings) inferior parathyroids (dorsal wings)

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4th branchial pouch

answer

superior parathyroids (dorsal wings)

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DiGeorge syndrome

answer

aberrant development of 3rd and 4th pouches, leads to T cell deficiency and hypocalcemia (failure of parathyroid development) --> tetany, fungal/viral infections

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MEN2A

answer

Ret mutation (neural crest cells) -adrenal medulla (pheochromocytoma) -parathyroid tumor (3rd/4th pharyngeal pouch) -parafollicular cells (medullary thyroid cancer)

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Cleft lip

answer

failure of fusion of maxillary and medial nasal processes (maxillary prominences with intermaxillary segment) formation of primary palate

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Cleft palate

answer

failure of fusion of lateral palatine processes, nasal septum, and/or median palatine process (formation of secondary palate)

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Vagina and ectocervix epithelium

answer

stratified squamous

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Endocervix epithelium

answer

simple columnar epithelium

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Uterine epithelium

answer

simple columnar epithelium, pseudostratified tubular glands

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Fallopian tube epithelium

answer

simple columnar, ciliated

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Ovary epithelium

answer

simple cuboidal epithelium

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What is in the suspensory ligament of ovary?

answer

ovarian vessels (can damage ureter when ligating ovarian vessels in oophorectomy)

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What is in the cardinal ligament?

answer

uterine vessels (can damage ureter when ligating uterine vessels during hysterectomy)

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What is in the round ligament of the uterus?

answer

Artery of Sampson connects uterine fundus to labia majora

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What is in the broad ligament?

answer

ovaries, fallopian tube, round ligament of uterus *mesosalpinx, mesometrium, mesovarium

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Emission and ejaculation are controlled by what nerves?

answer

emission- sympathetic NS (hypogastric) ejaculation- visceral & somatic nerves (pudendal nerve)

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Meiosis I of oocyte is arrested in what stage until ovulation?

answer

PROPHASE I (primary oocyte) 46 2N, 4C

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Meiosis II of oocyte is arrested in what stage until fertilization?

answer

METAPHASE II (secondary oocyte) 23 1N, 2C

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Down Syndrome triple screen:

answer

Low urine estriol Low serum AFP High serum bHCG

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HPV mechanism

answer

E6 gene product: destruction of p53 E7 gene product: destruction of Rb high risk 16 & 18

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General ovarian cancer marker

answer

CA-125, monitors progression and recurrence

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Surface ovarian tumors

answer

Serous cystadenoma (benign) Serous cystadenocarcinoma (malignant) Mucinous cystadenoma (benigh) Mucinous cystadenocarcinoma (malignant)

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Tumor marker for choriocarcinoma

answer

hCG

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Granulosa cell tumor

answer

secretes estrogen (precocious puberty in kids, endometrial hyperplasia- adults) Call-exner bodies- follicles with eosinophilic secretions abnormal uterine bleeding

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Krukenberg tumor

answer

GI malignancy with mets to bilateral ovaries (diffuse type)

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Meig's syndrome

answer

triad of ovarian fibroma, ascites and hydrothorax

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Which ovarian tumor resembles urothelium?

answer

Brenner tumor (pale, yellow-tan encapsulated tumor)

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What tumors cause mets to the ovary?

answer

Krukenberg (GI mets, mucinous signet rings) Pseudomyxoma peritonei (mets from appendix, mucinous tumor)

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Where does lymph from lower 2/3 of vagina drain to?

answer

Inguinal nodes

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Where des lymph from the upper 1/3 of vagina drain to?

answer

Regional iliac nodes

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Adenosis

answer

Persistance of columnar epithelium in the upper 1/3 of vagina, increased risk with in-utero DES exposure, and increased risk of clear cell adenocarcinoma

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Complete mole

answer

46 XX, 46 XY (sperm fertilize enucleated egg and then paternal DNA duplicates), very high beta-hCG, may progress to choriocarcinoma "snowstorm appearance" on ultrasound

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Partial mole

answer

69 XXX, 69 XYY, 69 XXY 2 sperm fertilize one egg high beta-hCG low risk of malignancy may contain fetal parts

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Choriocarcinoma response to chemo

answer

Sporadic (germ cell tumor)- poor response to chemo Gestational (post-molar pregnancy)- good response to chemo

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Calcifications on mammogram

answer

DCIS Sclerosing adenosis Fat necrosis

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Which breast cancer involves the dermal lymphatics?

answer

Inflammatory breast cancer Peau d'orange very poor prognosis, tumor has accessed lymph nodes (may look similar to acute mastitis)

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Which breast cancer has lymphocytic infiltrate?

answer

Medullary breast cancer

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Mutation in lobular carcinoma of breast

answer

CDH1 mutation, lack e-cadherin discohesive cells

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Her2 receptor

answer

cell surface growth factor receptor

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Poor prognosis breast cancer

answer

ER, PR, HER2 negative "triple negative"

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BRCA1

answer

Increased risk medullary carcinoma of the breast Ovarian carcinoma (serous) Fallopian tube carcinoma

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BRCA2

answer

Breast cancer in males (assoc. w/ Klinefelters) (and female breast/ovarian cancer)

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Yolk sac tumor marker

answer

AFP Schiller-Duval bodies (glomeruloid)

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beta-hCG mimics

answer

thyroid hormone

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Choriocarcinoma metastasis

answer

rapidly metastasizes into the blood goes to the lung

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Teratomas

answer

Benign in females Malignant in males *produce AFP or B-hCG

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Most common cause of testicular mass in male >60 years old

answer

Testicular lymphoma (diffuse large B cell lymphoma)

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Choriocarcinoma tumor marker

answer

Beta-hCG

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Prostatic adenocarcinoma mets

answer

bone mets (lumbar spine) osteoBLASTIC lesions- sclerotic

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Thigh ADduction

answer

Obturator (L2-L4) nerve innervates adductors longus, brevis, magnus & gracilis muscles injury due to ANTERIOR hip dislocation

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Thigh ABduction

answer

Superior gluteal (L4-S1) nerve innervates gluteus medius and minimus injured by POSTERIOR hip dislocation

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Thigh FLEXORS

answer

Femoral nerve (L2-L4) Iliacus & psoas muscles (lumber ventral rami L2-L3) Rectus femoris, sartorius (femoral nerve) Tensor fascia lata

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Thigh EXTENSORS

answer

Inferior gluteal nerve (L5-S2) Gluteus maximus (inf gluteal nerve) Long head of biceps femoris (sciatic-tibial nerve)

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Sciatic nerve splits into:

answer

common peroneal, tibial

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Functions of common peroneal nerve

answer

PED (foot eversion, dorsiflexion) injury --> foot drop, slap, loss of sensation on dorsum of foot

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Functions of tibial nerve

answer

TIP (foot inversion, plantar flexion) injury --> foot eversion and dorsiflexion, loss of sensation on sole of foot

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Site of pudendal nerve block

answer

Ischial spine (S2-S4)

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Leg extension controlled by which nerve?

answer

Femoral

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Leg flexion controlled by which nerves?

answer

sciatic (tibial) and others

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Thigh movements overall:

answer

ADduction- obturator nerve ABduction- superior gluteal nerve Flexion- femoral nerve Extension- inferior gluteal nerve

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Osteoclast markers:

answer

urinary deoxypyridinoline hydroxyproline tartrate resistant acid phosphatase

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Osteoblast marker:

answer

Alk phosphatase (bone specific)

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Mutation in achondroplasia

answer

Activating mutation in FGF3R (sporadic or AD) inhibits chondrocyte proliferation

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Mutation in osteopetrosis

answer

Carbonic anhydrase II (failure of normal bone resorption)

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Potential complications of Paget's disease of bone

answer

High output cardiac failure Osteogenic sarcoma Hearing loss

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Osteomyelitis affects what part of bone?

answer

Kids (metaphysics of long bones) Adults (epiphysis of long bones)

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Most common causes of osteomyelitis

answer

S. aureus, N. gonorrhea Salmonella (sickle cell) Tb (Pott's disease) Pseudomonas (foot puncture) Pasturella (dog/cat bite)

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Most common sites of AVN

answer

Femoral & humoral head Scaphoid & lunate wrist bones Talus "crescent sign"

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Common tumor in bone epiphysis

answer

Giant cell tumor (osteoclastoma) BENIGN "double bubble" appearance

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Common tumor in bone metaphysis

answer

Osteosarcoma (malignant), young males, Codman's triangle sign Osteochondroma (benign)- young males, mature bone with cartilaginous cap

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Common tumor in bone diaphysis

answer

Ewing's sarcoma (malignant), young males Anaplastic small blue cell tumor Extremely aggressive, onion skin appearance Also chondrosarcoma (malignant)

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HLA associated with RA

answer

HLA-DR4

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Joint findings in RA

answer

Pannus formation (MCP, PIP) Subcutaneous nodules Ulnar deviation of fingers Subluxation Baker's cysts **does NOT involve DIP *Pain improves with use

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Joint findings in osteoarthritis

answer

Subchondral cysts, sclerosis Osteophytes Eburnation Heberdens nodes (DIP), Bouchards nodes (PIP) *Pain improves with rest

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Sjogren's syndrome

answer

Autoimmune destruction of exocrine glands Triad: xeropthalmia, xerostomia, arthritis Unilateral parotid enlargement, inc. risk of B-cell lymphoma SS-A (Ro), SS-B (La)

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Gout

answer

Monosodium urate crystals precipitate in joints due to hyperuricemia 90% underexcretion Needle shaped, negatively birefringent, yellow crystals under parallel light

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Pseudogout

answer

Calcium pyrophosphate crystals Rhomboid, weakly positively birefringent, blue when parallel to light

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Seronegative spondyloarthropathies (HLA-B27 positive)

answer

Psoriatic arthritis (dactylitis, pencil-in-cup deform) Ankylosing spondylitis (sacroiliac & vertebral fusion, uveitis, aortic regurg, restrictive lung disease) IBD Reactive arthritis- conjunctivitis, urethritis, arthritis Bechets

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Bechets

answer

Recurrent apthous & genital ulcers, uveitis, e. nodosum, inflammatory arthritis

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Common cause of death in SLE

answer

Nephritis (most commonly diffuse proliferative glomerulonephritis) *renal failure, infection

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Antiphospholipid syndrome

answer

Anticardiolipin (false + syphilis test) Lupus anticoagulant (falsely increased PTT) Patient is HYPERcoagulable, DVT, stroke, placental thrombosis, hepatic vein thrombosis

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Drug induced lupus marker

answer

Anti-histone Ab *Hydralazine, isoniazid, procainamide

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Polymyositis

answer

Progressive symmetrical proximal muscle weakness ENDOmysial inflammation CD8+ T cells

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Dermatomyositis

answer

Malar rash, Gottron's papules, heliotrope rash, "shawl & face" rash, mechanics hands PERImysial inflammation CD4+ T cells Increased risk of lung, GI cancer

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Marker of polymyositis, dermatomyositis

answer

anti-Jo-1 Ab Increased CK

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Myasthenia gravis

answer

Ab against post-synaptic Ach receptor Symptoms: ptosis, diplopia, weakness WORSENS with muscle use Assoc. with thymoma, thymic hyperplasia

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Eaton-Lambert Syndrome

answer

Ab against pre-synaptic Ca2+ channels (decrease Ach release) Symptoms: proximal muscle weakness IMPROVES with muscle use Assoc. with small cell lung cancer

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What do you use to test for myasthenia gravis?

answer

Edrophonium (short acting anti cholinesterase)

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Diffuse scleroderma marker

answer

anti-Scl-70 (anti-DNA topoisomerase I Ab)

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CREST syndrome

answer

Calcinosis, Raynauds, Esophageal dysmotility, Sclerodactyly, Telangectasia Anti-centromere Ab "C" is for CREST

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Spongiosis

answer

Seen in acute eczematous dermatitis edema, lymphocytes, eosinophils "weeping" vesicles

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Hyperkeratosis

answer

Increased thickness of stratum CORNEUM (psoriasis, chronic eczema)

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Parakeratosis

answer

Hyperkeratosis with retention of nuclei in stratum corneum (psoriasis)

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Acantholysis

answer

Separation of epidermal cells (pemphigus vulgaris)

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Acanthosis

answer

Epidermal hyperplasia (increased spinosum)- acanthuses nigricans, psoriasis

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Dermatitis

answer

Inflammation of the skin (Atopic dermatitis)

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Albinism

answer

NORMAL melanocyte number, decreased melanin production because of low tyrosinase activity (or failure of neural crest migration during development)

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Vitiligo

answer

Complete depigmentation in areas due to decreased NUMBER of melanocytes (autoimmune destruction)

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Solar lentigo

answer

Increased NUMBER of melanocytes brown macules in the elderly

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Freckle

answer

normal number of melanocytes, INCREASED NUMBER OF MELANOSOMES, increased melanin pigment

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Eczema

answer

Type I HSR (IgE mediated) pruritic eruption on skin acute- weeping vesicles chronic- dry, thick skin

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Allergic contact dermatitis

answer

Type IV HSR Spongiosis

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Leser-Trelat sign

answer

sudden appearance of multiple, seborrheic keratoses Indicates underlying malignancy (GI, lymphoid)

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Auspitz sign

answer

pinpoint bleeding from exposure of dermal papillae when psoriatic scales are scraped off

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Bullous pemphigoid

answer

Tense blisters Ab against hemidesmosomes (BPAG1,2) Linear IF Spares oral mucosa

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Pemphigus vulgaris

answer

Flaccid blisters, + Nikolsky sign IgG against desmoglein 3 and/or 1 (desmosomes) Netlike IF Involves oral mucosa

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Dermatitis herpetiformis

answer

IgA deposits at tips of dermal papillae Assoc. w/ celiac disease Neutrophils at tips of dermal papillae "micro abscesses"

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Pemphigus vulgaris & bullous pemphigoid are Type ? HSR

answer

Type II HSR

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Dermatitis herpetiformis is Type ? HSR

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Type III HSR

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Erythema multiforme and SJS are Type ? HSR

answer

Type IV HSR Cytotoxic CD8+ T cell mediated

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Actinic keratosis

answer

Precursor to SCC small, erythematous papules, plaques HYPERKERATOSIS, PARAKERATOSIS

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Lichen planus is associated with?

answer

Hep C

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Necrotizing fasciitis caused by:

answer

Strep pyogenes "flesh eating bacteria"

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Impetigo caused by:

answer

S. aureus, S. pyogenes Honey colored crusts

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Basal cell nevus syndrome

answer

mutation in PATCHED --> 50-100 BCC

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Basal cell carcinoma

answer

Most common skin cancer, PATCHED mutation in 90% Sun exposed areas Pink, pearly nodules, telangectasias, rolled borders, central crusting, ulceration Palisading nuclei on histo classic location: upper lip *excellent prognosis

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Squamous cell carcinoma

answer

2nd MC skin cancer, p53 mutations in 90% sunlight, immunosuppression, arsenic Ulcerative, red lesions, with scales (lower lip) can metastasize histology shows KERATIN pearls

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Melanoma

answer

Significant risk of mets S-100 tumor marker Activating mutation in BRAF kinase *Leading cause of death due to skin cancer Worse prognosis with nodular and acrolentigenous types, better prognosis with superficial and lentigo types

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Hypertensive retinopathy

answer

copper wiring AV nicking

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Diabetic retinopathy

answer

hemorrhage, exudates, microaneurysms, vessel proliferation **SORBITOL causes damage

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Xeroderma pigmentosum

answer

AR mut in NER of thymidine dimers from sun exposure

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Deamination

answer

cytosine --> uracil adenine --> xanthine guanine --> hypoxanthine *repair with base excision

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HNPCC

answer

AD defect in DNA mismatch repair

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Ataxia telangiectasia

answer

AR defect in ATM gene that codes for DNA repair enzymes triad: cerebellar defect (ataxia), spider angiomas, IgA deficiency Inc. AFP

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alpha-amanitin (amanita phalloides)

answer

death cap mushroom, inhibits RNA Pol II severe hepatotox. if ingested

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beta-thalassemia

answer

splice site mutation

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I cell disease

answer

lysosomal storage disease, failure of addition of mannose-6-P to lysosome proteins *coarse facial features, clouded corneas, restricted joint movement, fatal in childhood

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Chediak Higashi

answer

AR mutation in LYST (MT dependent sorting of endosomal proteins) --> recurrent pyogenic infections, partial albinism, peripheral neuropathy, giant granules in leukocytes

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Kartageners

answer

immotile cilia due to dynein arm defect infertility, bronchiectasis, recurrent sinusitis, situs inversus

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Neuroendocrine tumor markers

answer

Chromogranin A Neuron specific enolase Synaptophysin

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Histo stain- cytokeratin

answer

epithelium

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Histo stain- vimetin

answer

connective tissue

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Histo stain- desmin

answer

muscle

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Histo stain- GFAP

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neuroglia

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Histo stain- neurofilaments

answer

neurons

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Inhibitors of Na+/K+ ATPase

answer

Oubain (binds K+ site) Digoxin (inhibit Na+/K+ directly)

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Cartilage defects

answer

Type I (osteogenesis imperfects) Type III (ehlers-danlos) Type IV (Alport syndrome)

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Ehlers-Danlos syndrome

answer

Defective Collagen types I & III hyperextensible skin, bleeding tendency, hypermobile joint, joint dislocation, berry aneurysm, organ rupture MCC death = AORTIC DISSECTION

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Alport syndrome

answer

Type IV collagen defect Nepritis & deafness X-linked recessive

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Marfans

answer

AD fibrillin-1 defect tall, long extremities, pectus excavatum, hypermobile joints, arachnodactyly, cystic medial degen of aorta (AI, dissecting aorting aneurysm), MVP, lens sublux. MCC death = AORTIC DISSECTION/aneurysm

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karyotype can be performed on:

answer

blood, bone marrow, amniotic fluid, placental tissue *looks at metaphase chromosomes

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Blotting techniques

answer

Southern- DNA Northern- RNA Western- Protein Southwestern- DNA-binding protein (c-Jun, c-Fos)

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Allelic heterogeneity

answer

different mutations at same locus cause similar phenotypes (ex. duchenne and becker muscular dystrophy)

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Phenotypic heterogeneity

answer

mutation at SAME gene leads to different phenotype

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Heteroplasmy

answer

presence of normal and mutated mtDNA, variable expression of mitochondrial inherited disease

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Uniparental disomy

answer

offspring receives 2 copies of chrom from 1 parent heterodisomy- meiosis I error isodisomay- meiosis II error *consider in individual manifesting recessive disorder with only 1 carrier parent

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Prader-Willi syndrome

answer

*paternal allele NOT expressed ONLY MATERNAL EXP. (chrom 15) mental retardation, hyperphagia, obesity, hypogonadism, hypotonia

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Angelmans syndrome

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*maternal allele NOT expressed ONLY PATERNAL EXP (chrom 15) mental retardation, seizures, ataxia, inappropriate laughter

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X-linked dominant disorders

answer

Hypophosphatemic rickets

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Mitochondrial inheritance

answer

Lebers hereditary optic neuropathy Myoclonic epilepsy with ragged red fibers (MERRF) Mitochondrial encephalopathy with stroke and lactic acidosis (MELAS)

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ADPKD on which chrom?

answer

Chrom 16 (AD)

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FAP on which chrom?

answer

Chrom 5 (AD)

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Hereditary hemorrhagic telangiectasia (osler-weber-rendu synd)

answer

AD inherited disorder of blood vessels telangectasias, epistaxis, skin discolorization, AVM

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Huntington's disease on which chrom?

answer

Chrom 4 (AD)

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NF type 1 on which chrom?

answer

Chrom 17 (AD) Cafe-au-lait spots, neural tumors, lisch nodules, scoliosis, optic pathway gliomas

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NF type 2 on which chrom?

answer

Chrom 22 (AD) bilateral acoustic schwanommas, juvenile cataracts

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Tuberous sclerosis

answer

AD facial lesions (adenoma sebaceum), hypopigmented ash leaf spots, cortical/retinal hamartoma, seizures, mental retardation, renal cysts, renal angiomyolipomas, cardiac rhabdomyomas, astrocytomas

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VHL disease is on which chrom?

answer

Chrom 3 (AD) constituitively active HIF, inc. angiogenesis via VEGF hemangioblastomas (retina, cerebellum, medulla), bilat renal cell carcinoma

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AD diseases

answer

achondroplasia, ADPKD, FAP, familial hypercholesterolemia type IIA, hereditary hemorrhagic telangiectasia, hereditary spherocytosis, Huntington's disease, Marfans, MEN, NF1, NF2, tuberous sclerosis, VHL disease, OI type 1, hereditary angioedema

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Diagnosis of CF

answer

Chrom 7 CFTR, del Phe from 508 Degradation of channel before reaching cell surface *nasal transepithelial gradient is more NEG than normal (increased Na+ abs) *inc conc of Cl- in sweat test

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Deaths due to CF

answer

cardiopulmonary complications (pneumonia, bronchiectasis)

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AR diseases

answer

albinism, ARPKD, CF, glycogen storage diseases, hemachromatosis, mucopolysaccharidoses (ex. hunters), PKU, sickle cell, sphingolipodoses (ex. fabrys), thalassemias

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X-linked recessive disorders

answer

Brutons agammaglobulinemia, Wiskott-aldrich syndrome, Fabry's, G6PD def, ocular albinism, Lesch-Nyhan, Duchenne & beckers muscular dystrophy, Hunter's syndrome, hemophilia A & B, ornithine transcarbamoylase def *Be Wise Fools GOLD Heeds Silly HOpe

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MCC of death in muscular dystrophy

answer

respiratory failure

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Trinucleotide repeat disorders

answer

Fragile X (CGG)n Friedreichs ataxia (GAA)n Huntingtons (CAG)n Myotonic dystrophy (CTG)n

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Pregnancy screen in Down Syndrome

answer

Low AFP & estriol High B-hCG and inhibin A Increased nuchal translucency

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Pregnancy screen in Edwards syndrome (trisomy 18)

answer

Low AFP, B-hCG, estriol normal inhibin A

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Pregnancy screen in Pataus (trisomy 13)

answer

Low free B-hCG, Low PAPP-A Increased nuchal translucency

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Cri-du-chat

answer

Microdel. of short arm of chrom 5 microcephaly, mod-severe mental retardation, high pitch cry, epicanthal folds, cardiac abnormalities (VSD)

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Williams syndrome

answer

Congen microdeletion of long arm of chrom 7 elfin facies, intellectual disability, hypercalcemia, well dev. verbal skills, extreme friendliness w/ strangers, cardiovascular problems

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Microdel. of chrom 22q11

answer

CATCH-22 cleft palate, abnormal facies, thymic aplasia, cardiac def, hypocalcemia (parathyroid aplasia)

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What vitamins are lacking in breast milk?

answer

D & K

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Vit A deficiency

answer

Night blindness, dry skin, vulnerability to infection (ex. measles)

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Vit A excess

answer

arthralgia, HA, fatigue, skin changes, sore throat, alopecia *TERATOGENIC

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Vit B1 (thiamine) is used for:

answer

Pyruvate dehydrogenase alpha-ketoglutarate dehydrogenase Transketolase Branch chain AA dehydrogenase

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Vit B1 (thiamine) deficiency:

answer

*occurs in alcoholics Wernicke-Korsikoff: confusion, opthalmoplegia, ataxia, + confabulation, personality change, memory loss (perm) Dry beri-beri- polyneuritis, symm muscle wasting Wet beri-beri- high output heart failure, edema

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Vit B2 (riboflavin) deficiency

answer

Cheilosis, corneal vascularization

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Vit B3 (niacin) is derived from which AA?

answer

TRYPTOPHAN + requires B6 and B2

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Niacin deficiency (Vit B3)

answer

glossitis pellagra: diarrhea, dermatitis, dementia (caused by Hartnups disease, carcinoid synd, isoniazid therapy)

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Vit B5 (pantothenate) deficiency

answer

dermatitis, eteritis, alopecia, adrenal insuff. (B5 used for steroid synthesis, synth of Vit A & D, cholesterol, AA, FA, and protein)

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Vit B6 (pyridoxine) function

answer

used in transamination, decarboxylation, glycogen phosphorylase (synth. of cystathionine, heme, niacin, histamine, serotonin, GABA, epi, NE)

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Vit B6 deficiency

answer

Convulsions, hyperirritability, peripheral neuropathy, sideroblastic anemia *Isoniazid gives you a B6 deficiency, so supplement

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Vit B7 (biotin) function

answer

Carboxylation reactions (pyruvate carboxylase, acetyl CoA carboxylase, propionyl CoA carboxylase)

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Vitamin B9 (folic acid) use

answer

converted to THF for 1-C transfers/methylation reactions, DNA and RNA bases

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Vit B9 (folic acid) deficiency

answer

NTDs Macrocytic, megaloblastic anemia

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Vit B12 (cobalamin) function

answer

cofactor for homocysteine methyltransferase & methylmalonyl-CoA mutase

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Vit B12 (cobalamin) deficiency

answer

Macrocytic, megaloblastic anemia hypersegmented PMNs neurologic symptoms (paresthesia, subacute combined degen) *caused by malabsorption, pernicious anemia, absence of terminal ileum

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Regeneration of methionine from homocysteine depends on:

answer

Vit B12, folate

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Vit E deficiency

answer

Erythrocyte fragility Posterior column and spinocerebellar tract demyelination (ataxia) *seen in CF, abetalipoproteinemia

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Vitamin K deficiency

answer

neonatal hemorrhage (inc. PT and PTT) must supplement because it is low in breastmilk

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Zinc deficiency

answer

delayed wound healing, hypogonadism, decreased hair, dysgeusia, anosmia acrodermatitis enteropathica (rare inherited zinc def)

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Kwashiorkor

answer

protein malnutrition edema, anemia, fatty liver

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Marasmus

answer

energy malnutrition tissue/muscle wasting, loss of subcutaneous fat

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What pathways happen in mitochondria?

answer

FA oxidation, acetyl CoA production, TCA cycle, ox phos

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What pathways happen in cytoplasm?

answer

Glycolysis, FA synthesis, HMP shunt, protein synthesis (RER), steroid synthesis (SER), cholesterol synthesis

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What pathways happen in both mito and cytoplasm?

answer

Heme synthesis, Urea cycle, Gluconeogenesis (HUGS need BOTH people)

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Arsenic inhibits...

answer

lipoic acid *vomiting, rice water stools, garlic breath

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Pyruvate dehydrogenase complex deficiency

answer

Mutation in X-linked gene for E1-alpha subunit of PDC *neurologic defects in infancy Treat with ketogenic nutrients (lysine, leucine) bypass PDC

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Inhibitor of Complex I

answer

Rotenone

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Inhibitor of complex III

answer

Antimycin

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Inhibitor of complex IV

answer

cyanide, CO

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Inhibitor of complex V (ATPase)

answer

Oligomycin

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Decouplers of ox-phos

answer

2,4-DNP, aspirin, thermogenin in brown fat

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1 NADH = how many ATP

answer

2.5

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1 FADH2 = how many ATP

answer

1.5

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Total ATP from malate-aspartate shuttle vs. glycerol-3-phosphate shuttle

answer

malate-aspartate = 32 glycerol-3-phosphate = 30

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HMP shunt occurs where?

answer

CYTOPLASM lactating mammary glands, liver, adrenal cortex (fatty acid and steroid synthesis), RBCs

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What is the defect in chronic granulomatous disease?

answer

NADPH oxidase deficiency infections by catalase + organisms (S. aureus, Aspergillus) NBT test will not turn blue (clear = abnormal)

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Sucrose =

answer

glucose + fructose

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Fructose intolerance- deficiency is?

answer

Aldolase B Accumulate Fructose-1-P which is toxic to liver hypoglycemia, jaundice, cirrhosis, vom, hepatomegaly

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Deficiency in essential fructosuria

answer

fructokinase benign, asymptomatic fructose appears in blood & urine

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Deficiency in galactokinase deficiency

answer

galactokinase... DUH mild condition, galactose in blood and urine infantile cataracts

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Deficiency in classic galactosemia

answer

galactose-1-phosphate uridyltransferase buildup of galactose-1-P, galactitol in eye cataracts, failure to thrive, jaundice, hepatomegaly, mental retardation Tx = exclude GALACTOSE & LACTOSE

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Lactose =

answer

glucose + galactose

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sorbitol accumulation causes:

answer

osmotic damage (cataracts, retinopathy, peripheral neuropathy) seen in diabetes

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Essential AA

answer

*Must be supplied in diet Glucogenic: Met, Val, His Glucogenic/ketogenic: Ile, Phe, Thr, Trp Ketogenic: Lys, Leu

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Acidic AA

answer

Asp and Glu (negatively charged at body pH)

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Basic AA

answer

Arg, Lys, His

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AA with 3 titratable proteins

answer

Basic: His, Arg, Lys Acidic: Asp, Glu Cys, Tyr

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Which AA donates NH4+ for urea cycle?

answer

Aspartate

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Which AA is hydrolyzed in the final step of urea acid cycle?

answer

Arginine

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Which AA commonly accepts NH3 groups?

answer

Glutamate

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Which AA are increased in histones?

answer

Arg and Lysine (bind neg charged DNA)

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Ammonia intoxication

answer

tremor, slurred speech, somnolence, vom, cerebral edema, blurred vision (treat with benzoate, phenyl butyrate, lactulose)

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AA derivatives of phenylalanine

answer

Phe --> Tyrosine --> dopa --> dopamine --> NE --> epi

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AA derivatives of tryptophan

answer

Niacin (requires B6) Serotonin (requires BH4)

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AA derivatives of histidine

answer

histamine (uses B6)

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AA derivatives of glycine

answer

heme (uses B6)

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AA derivative of arginine

answer

Creatinine Urea NO

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AA derivatives of glutamate

answer

GABA (B6) Glutatione Glut + Asp = pyrimadine Glut + Asp + glycine = purine (2 rings)

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What AA becomes essential in PKU?

answer

tyrosine (remove phenylalanine from diet)

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What enzyme is deficient in PKU?

answer

phenylalanine hydroxylase tetrahydrobterin cofactor (malignant PKU)

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What enzyme is deficient in alkaptonuria?

answer

homogentisic acid oxidase (dark tissues, arthralgias)

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What enzyme is deficient in albinism?

answer

tyrosinase or tyrosine transporter

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Enzyme deficiencies in homocysteinuria

answer

Cystathionine synthase (decrease Met, inc Cysteine, B12 and folate in diet) Homocysteine methyltransferase (requires B12)

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Homocysteinuria has genetic heterogeneity with ...

answer

Marfans (osteoporosis, mental retardation, tall stature, kyphosis, lens subluxation, atherosclerosis)

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Cysteinuria

answer

defect of renal tubular AA transporter for COAL (cysteine, ornithine, arginine, lysine) in the PCT leads to renal staghorn caliculi

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What AA can't be degraded in maple syrup urine disease?

answer

Leucine, Isoleucine, Valine "I Love Vermont maple syrup"

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Hartnup disease leads to:

answer

pellagra (decreased tryptophan uptake)

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Enzyme deficiency in Von Gierke's disease (type I)

answer

glucose-6-phosphatase (glucose -6-P to glucose)

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Enzyme def. in Pompe's disease (type II)

answer

lysosomal alpha-1,4 glucosidase (acid maltase) -cardiomegaly, trashes LIVER, HEART, MUSCLE

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Enzyme def. in Cori's disease (type III)

answer

Debranching enzyme (alpha-1,6 glucosidase)

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Enzyme def. in McArdles disease (type V)

answer

Skeletal muscle glycogen phosphorylase *painful muscle cramps, myoglobinuria with exercise

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Enzyme deficiency in Fabry's disease

answer

alpha-galactosidase A (ceramide trihexoside accum) XR peripheral neuropathy, angiokeratoma, renal/cardiovascular disease

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Enzyme deficiency in Gaucher's disease

answer

Glucocerebrosidase (glucocerebroside accum) AR HSM, aseptic necrosis of femur, bone crises, Gaucher cells

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Enzyme deficiency in Neimann-Pick disease

answer

Sphingomyelinase (sphingomyelin accum) AR progressive neurodegen, HSM, cherry red spot, foam cells

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Enzyme deficiency in Tay-Sachs disease

answer

Hexosaminidase A (GM2 ganglioside accum) AR progressive neurodegen, cherry red spot, lysosomes with onion skin, NO HSM

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Enzyme deficiency in Krabbe's disease

answer

Galactocerebrosidase (galactocerebroside accum) AR peripheral neuropathy, dev. delay, optic atrophy, globoid cells

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Enzyme def. in Metachromatic leukodystrophy

answer

Arylsufatase A (cerebroside sulfate) AR Central/peripheral demyelination, ataxia, dementia

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Enzyme def. in Hurlers syndrome

answer

alpha-L-iduronidase (heparan sulfate, dermatan sulfate) AR developmental delay, gargoylism, airway obstruction, corneal clouding, HSM

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Enzyme def. in Hunters

answer

Iduronate sulfatase (heparan sulfate, dermatan sulfate) XR Mild hurlers + aggressive behavior (no corneal clouding)

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Ketones

answer

acetoacetate, B-hydroxybutyrate *produced during prolonged starvation, DKA, alcoholism

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What cells can't use ketones?

answer

RBC & liver cells

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Starvation- order of energy production

answer

Between meals (hepatic glycogenolysis) Starvation 1-3 days (glycogenolysis, adipose release of FFA, hepatic gluconeogenesis from lactate, alanine, odd-chain FFA) After 3 days (adipose- ketones, then protein degradation)

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Mutation in Type I hyperchylomicronemia

answer

AR Lipoprotein lipase def. or altered apo C-II (can't degrade TG in circulating CM and VLDL) *pancreatitis, HSM, eruptive/pruritic xanthomas

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Mutation in Type IIa hypercholesterolemia

answer

AD LDL-Receptor absent or decreased *accel. atherosclerosis, tendon xanthomas, corneal arcus

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Mutation in type IV hypertriglyceridemia

answer

AD hepatic overproduction of VLDL *pancreatitis

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Abetalipoproteinemia

answer

AR Mutation in microsomal triglyceride transfer protein (MTP), decreased B-48 and B-100 decrease CM and VLDL synthesis and secretion, accum lipid in enterocytes --> FTT, steatorrhea, acanthocytosis, ataxia (vit E), night blindness (vit A)

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Obligate aerobes

answer

Nocardia, pseudomonas aeruoginosa, mycobacterium tb, bacillus (Nagging Pests Must Breathe)

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Obligate anaerobes

answer

Clostridium, Bacteroides, Actinomyces (lack catalase/ SOD) Anaerobes Cant Breathe Air

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Obligate intracellular bugs

answer

Chlamydia, Rickettsia

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Facultative intracellular bugs

answer

Salmonella, Neisseria, Brucella, Mycobacterium, Listeria, Francisella, Legionella, Yersinia pestis "Some Nasty Bugs May Live FacultiveLY"

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Urease positive bugs

answer

Cryptococcus, H. pylori, Proteus, Ureaplasma, Nocardia, Klebsiella, S. epidermidis, S. saprophyticus (CHuck norris hates PUNKSS)

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Which bugs invade gut mucosa? (bloody, inflamm diarrhea)

answer

Salmonella, shigella, Yersinia enterocolitica, EIEC, campylobacter jejuni

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Bugs with preformed exotoxin

answer

Staph aureus (enterotoxin) Bacillus cereus (cereulide) *starts and ends quickly

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Bacteria that are lysogenized with phage

answer

ABCDE ShigA like toxin Botulinum toxin Cholera toxin Diptheria toxin Erythrogenic toxin (Strep pyogenes)

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Endotoxin that causes shock in gram neg bacteria

answer

Lipid A (IL1, TNFalpha, NO, C3a, C5a, DIC)

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Dominant flora of skin

answer

Staph epidermidis (also corynebacterium, pseudomonas)

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Dominant flora of nose

answer

Staph epidermidis, colonized by Staph aureus

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Dominant flora of mouth

answer

Viridans strep

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Dominant flora of dental plaque

answer

Strep mutans

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Dominant flora of colon

answer

Bacteroides fragilis > E. coli

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Dominant flora of vagina

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Lactobacillus, colonized by E. coli, group B strep, candida, corynebacterium

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Bug that mimics appendicitis

answer

Yersinia enterocolitica (mesenteric adenitis) Campylobacter jejuni

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MCC of pneumonia in neonates (<4 weeks)

answer

Group B strep E. coli

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MCC of pneumonia in kids 4 weeks - 18 years old

answer

RSV (viruses) Mycoplasma Chlamydia trachomatis (infants - 3yrs) C. pneumoniae (school aged children) Strep pneumo "Runts may cough chunky sputum"

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MCC of pneumonia in adults 18-40

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S. pneumo H. influenza Anaerobes, viruses, mycoplasma

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MCC of pneumo in the elderly

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S. pneumo Influenza virus Anaerobes H. influenza gram neg rods

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Nocosomial pneumonia

answer

staph, enteric gram neg rods (E. coli, pseudomonas, klebsiella)

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Immunocompromised patients pneumonia

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Staph, enteric gram neg rods, fungi, viruse, PCP (HIV)

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Aspiration pneumonia

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anaerobes (fusobacterium, peptostreptococcus, bacteriodes)

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Alcoholic pneumonia

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S. pneumo, klebsiella, staph

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CF pneumonia

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PSEUDOMONAS S. aureus S. pneumo

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Postviral pneumonia

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Staph H. influenza Strep pneumo

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Atypical pneumonia

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Mycoplasma, Legionella, Chlamydia

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MCC meningitis in newborns

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Group B strep E. coli Listeria

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MCC meningitis in children (6 mo-6 yr)

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Strep pneumo N. meningitidis H. influenza type B Enterovirus (coxsackie, echovirus)

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MCC meningitis in 6-60 year olds

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Strep pneumo N. meningitis (#1 in teens) Enterovirus HSV

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MCC of meningitis in people over 60

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S. pneumo Gram neg rods Listeria

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HIV meningitis

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Cryptococcus, CMV, toxoplasmosis, JC virus

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Bugs infecting unimmunized children

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Rash- rubella, measles Meningitis- H influenza type B Pharyngitis- C. diptheriae Epiglottitis- H. influenza type B

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Tetralogy of Fallot

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Pulmonary stenosis Overriding aorta RVH VSD **These kids SQUAT to increase PVR and reduce R-->L shunt and cyanosis

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Increased lung volumes in COPD

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RV, FRC, TLC (FVC is decreased)

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Renal blood flow (RBF) =

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RPF / (1-Hct)

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FF =

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GFR/ RPF

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Orthostatic hypotension is mediated by which adrenergic receptor?

answer

alpha-1 CONTRACTS SM and prevents orthostatic hypotension

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alpha-1 activity

answer

contract SM mydriasis stimulate glycogenolysis

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alpha-2 activity

answer

inhibit NT release DECREASE sympathetic outflow Platelet aggregation Contract some vascular SM inhibit lipolysis and insulin release

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beta-1 activity

answer

Increase HR and contractility stim. RENIN release

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beta-2 activity

answer

BRONCHODILATION UTERINE RELAXATION Vasodilation Stimulates glycogenolysis Increase HR and contractility INCREASE AQUEOUS HUMOR PROD. Stimulate INSULIN RELEASE Increase lipolysis

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Which 2 RNA viruses replicate in the nucleus?

answer

Influenza (SS neg linear RNA, 8 segment virus) HIV (SS + linear RNA retrovirus)

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Microsatellite instability can lead to?

answer

HNPCC (colorectal cancer)

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Reactivated CMV in HIV patient causes:

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Retinitis Colitis Esophagitis

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Testes lymph drains to

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para-aortic

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Glans penis lymph drains to:

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deep inguinal

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Stomach lymph drains to:

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celiac

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T cell + selection occurs in:

answer

CORTEX of spleen

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T cell - selection occurs in:

answer

MEDULLA if spleen

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MHC Class I

answer

HLA A, B, C CD8 T cells expressed on all nucleated cells antigen presented w/ alpha chain and beta-2-microglobulin

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MHC Class II

answer

HLADR, DP, DQ CD4 T cells expressed on APCs antigen is degraded following release of invariant chain in acidified endosome (presented w/ alpha and beta chain)

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HLA DQ2/DQ8

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Celiac disease

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HLA DR2

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MS, hay fever, SLE, goodpastures

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HLA DR3

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DM1, Graves disease

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HLA DR4

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RA, DM1

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HLA DR5

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Pernicious anemia, Hashimotos thyroiditis

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HLA A3

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Hemochromatosis

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Helper T cell produces

answer

IL-12 (act TH1 cell) IL-4 (act TH2 cell)

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T(reg) cells

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Express CD3, CD4, CD25 Activated Treg produce IL-10, TBF-B

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2 major opsinins in bacterial defense

answer

C3b, IgG

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C1 esterase inhibitor deficiency

answer

Hereditary angioedema (dont use ACE-I!)

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C3 deficiency

answer

recurrent pyogenic sinus & respiratory tract infxns

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C5-C9 deficiency

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Recurrent Neisseria infections

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DAF deficiency

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complement overactivity, lysis of RBC, paroxysmal nocturnal hemoglobinuia (PNH)

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What bugs do antigenic variation?

answer

Salmonella Borrelia (relapsing fever) N. gonorrhea (pilus protein) Influenza Hep C (vary envelope protein) Parasites (trypanosomes)

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Passive immunity

answer

IgA in breast milk Antitoxins (tetanus, botulism, HBV, rabies) Humanized monoclonal Ab

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Active immunity

answer

natural infection vaccines toxoid

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Live attenuated vaccine

answer

cellular response strong, lifelong immunity *may revert to virulent form MMR, polio (sabin), varicella, yellow fever

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Inactivated/killed vaccine

answer

humoral immunity *stable, safer, requires booster Hep A, polio (salk), rabies

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Serum sickness

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Fever, urticaria, arthralgias, proteinuria, lymphadenopathy, 5-10 days after antigen exposure (ex. sulfonamides)

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Type III HSR

answer

SLE, RA PAN, PSGN, Serum sickness, Arthus reaction

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Type II HSR

answer

AIHA pernicious anemia ITP eryhtroblastosis fetalis acute hemolytic transfustion rxn RF, Goodpastures bullous pemphigoid, pemphigus vulgaris

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Type IV HSR

answer

MS Guillain Barre synd. GVH disease PPD (Tb) Contact dermatitis

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Anti-histone Ab

answer

Drug induced lupus

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Anti-centromere Ab

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Scleroderma (CREST)

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Anti-Scl 70 Ab

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Scleroderma diffuse

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Antimitochondrial Ab

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primary biliary cirrhosis

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Anti-Jo-1, Anti SRP, anti-Mi-2 Ab

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Polymyositis, Dermatomyositis

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Anti-SSA (anti-Ro), Anti-SSB Ab (anti-La)

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Sjogrens

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Anti-U1-RNP Ab

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mixed conn tissue disorder

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anti - smooth muscle Ab

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autoimmune hepatitis

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anti-glutamate decarboxylase Ab

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T1 DM

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c-ANCA

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Wegeners

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p-ANCA

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microscopic polyangiitis, Churg-Strauss

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Hyper IgE syndrome

answer

Th1 cells fail to produce IFN-gamma FATED- course Facies, Abscesses, retained primary teeth, inc. IgE, derm problems

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SCID

answer

defective IL-2 receptor (X linked) Adenosine deaminase deficiency (AR) FTT, chronic diarrhea, thrush, recurrent infxns, absent thyrmic shadow, germinal centers Treat w/ bone marrow tx

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Ataxia telangectasia

answer

Defect in ATM gene (DNA repair enzymes)- AR triad: cerebellar defects, spider angiomata (telangectasia), IgA def *Increased AFP

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Hyper IgM syndrome

answer

Defective CD40L on helper T cells, cant class switch severe pyogenic infections (treat w/ IVIG)

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Wiskott-Aldrich syndrome

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X linked def. in WASP gene (T cells cant reorganize actin skel) TIE Triad: Thrombocytopenic purpura, Infections, Eczema High IgE and IgA (low IgM)

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Leukocyte adhesion def (type I)

answer

Defect in LFA-1 integrin (CD18) protein on phagocytes, problem with tight adhesion recurr bacterial infxn, ABSENT PUS FORMATION, delayed sep of umbilical cord Neutrophilia

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Chediak Higashi syndrome

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AR Defect in LYST (lysosomal trafficking regulator gene), recurr. PYOGENIC infxns by staph, strep partial ALBINISM, peirpheral neuropathy *Giant granules in neutrophils

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Chronic granulomatous disease

answer

Usually X linked Lack of NADPH oxidase (absent resp. burst), decreased ROS Inc sus to catalase + organisms (S.aureus, E. coli, Aspergillus, Pseudomonas, Serratia, Nocardia) *abnormal DHR flow cytometry test *Nitroblue tetrazolium test no longer performed (but abnormal)

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Graft vs. host disease

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Graft T cells attack host organs Maculopapular rash, jaundice, HSM, diarrhea *bone marrow & liver tx

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Coagulative necrosis

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heart, liver, kidney

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Liquefactive necrosis

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brain, bacterial abscess, pleural effusion, wet gangrene

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caseous necrosis

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Tb, systemic fungi

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spider bite?

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coagulative necrosis

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fatty necrosis

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peripancreatic fat

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fibrinoid necrosis

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blood vessels

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gangrenous necrosis

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dry (ischemic coagulative) wet (bacteria) limbs & GI tract

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Reversible cell injury

answer

Dec ATP synthesis Cell swelling (impaired Na+/K+ pump)- increased Na+ and Ca2+ in cell nuclear chromatin clumping decreased glycogen fatty change ribosome detachment

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Irreversible cell injury

answer

nuclear pyknosis, karyolysis, karyorrhexis Ca2+ influx (caspase act) plasma mem damage lysosomal rupture mito permeability release of CK dystrophic calcifications

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Areas most susc. to ischemia

answer

ACA/MCA/PCA boundary Subendocardium Straight seg. of proximal tubule + TAL (medulla) Area around central vein of liver splenic flexure, rectum pyramidal cells of hippocampus, purkinje cells

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Red (hemorrhagic) infarcts

answer

liver, lung, intestines

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Pale (white) infarcts

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heart, kidney, spleen

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Leukocyte extravasation

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Rolling- selectin (endothelium) - Sialyl Lewis X Tight binding- ICAM-1 (endothelium) - LFA-1, MAC-1 Diapedesis (PECAM-1 - PECAM-1) Migration- LTB4, IL8, C5a, kallikrein

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Free radical scavengers

answer

Catalase, SOD, glutatione peroxidase antioxidants (Vit A, C, E) Vit A neutralizes LDL-ox Vit C neutralizes pollutants/cig smoke

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High ESR

answer

Infxn, inflammation (temporal arteritis) cancer, pregnancy, SLE

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Low ESR

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Sickle cell, polycythemia, CHF

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Systemic amyloid

answer

AL (primary)- Ig light chains (plasma cell disorder, MM or systemic)

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AA (secondary)

answer

RA, IBD, spondyloarthropathy Amyloid A SAA --> AA

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Dialysis related amyloid

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B2 microglobulin

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Heritable amyloid

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ATTR (neuro, cardiac) TTR gene mutation

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Senile

answer

normal TTR slow progression cardiac dysfunction

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Alzheimers amyloid

answer

B-amyloid APP --> B-amyloid

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Malignant tumors:

answer

Detatch from cells by decreased E-cadherin Adhere to BM via laminin Invade BM (collagenases, MMP) Stim. angiogenesis Lack contact inhibition (med by cadherins, catenin) Metastasize!

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Transitional cell carcinoma

answer

Bladder, ureter, renal pelvis

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Oncogenes with tyrosine kinase prod.

answer

abl (CML), Her2/neu, ret

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Oncogenes with transcription factor products

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c-myc (Burkitts lymphoma) L-myc (lung tumor) N-myc (neuroblastoma, small cell lung ca)

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Oncogene with GTPase activity

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ras (MAP-kinase), colon cancer

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Oncogene with anti-apoptotic activity

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Bcl2 (follicular and undifferentiated lymphomas)

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Li-Fraumemi assoc with:

answer

p53 mutation early breast cancer, soft tissue sarcoma

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HNPCC assoc with:

answer

DNA mismatch repair genes (AD) increased risk colorectal cancer WITHOUT previous polyps

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VHL syndrome associated with:

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Deletion on chrom 3p HIF-1 nuclear transcription mutation, increases VEGF cerebellar hemangioblastoma, retinal angioma, bilateral RCC, bilat pheochromocytoma

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TSG mutations assoc w/ melanoma

answer

p16, BRAF

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Blooms syndrome

answer

Mutation in helicase gene RecQL3 photosensitivity, short stature, erythema, telangectasia CHROMOSOMAL INSTABILITY

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Sites where metastasis is > primary cancer

answer

LLL BB Lung, Liver, Lymph nodes Brain, Bone

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Pathways of cancer dissemination

answer

1. lymphatic spread (carcinomas) 2. hematogenous spread (sarcoma) 3. seeding (ovarian, peripheral lung canc, glioblastoma multiforme)

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What blocks uptake of choline into cholinergic nerve terminal?

answer

hemicholinium

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What blocks uptake of Ach into vesicles?

answer

Vesamicol

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What blocks release of Ach from nerve terminal?

answer

Botulinum toxin

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What blocks tyrosine --> DOPA

answer

metyrosine

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What blocks dopamine uptake into vesicles in the noradrenergic nerve terminal?

answer

reserpine

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What blocks release of NE from norad nerve term?

answer

guanethidine, bretylium

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What increases release of NE from norad nerve term?

answer

amphetamines

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What inhibits reuptakes of NE at the nerve terminal?

answer

Cocaine, TCA, amphetamine

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Diaphragmatic hiatus's

answer

T8: IVC T10: Esophagus & Vagus (2 trunks) T12: Aorta, Thoracic duct, Azygos vein (the red, white, and blue at 12)

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Heart sounds: inspiration increases

answer

intensity of right heart sounds

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Heart sounds: expiration increases

answer

intensity of left heart sounds

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Heart sounds: handgrip increases

answer

(systemic vasc. resistance) increases MR, AR, VSD, MVP

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Heart sounds: valsalva/sudden standing increases

answer

MVP, HCM (decreases venous return)

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Heart sounds: rapid squatting DECREASES

answer

MVP, HCM (decreases venous return, increases preload)

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Ejection click

answer

AS also pulsus parvus et tardus crescendo-decrescendo systolic ejection murmur

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Midsystolic click

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MVP late systolic crescendo murmur

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Opening snap

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MS delayed rumbling late diastolic murmur

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murmur with bounding pulses, head bobbing

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AR high pitch, blowing diastolic decrescendo murmur

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continuous machine like murmur

answer

PDA

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congenital long QT synd

answer

Jervell & Lange-Nielsen syndrome (sensorineural deafness, syncopal episodes) Romano Ward Syndrome- AD

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Wolf-parkinson white synd

answer

pre-excitation syndrome accessory conduction bypasses AV node SVT, short PR, Delta wave, wide QRS

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Aflutter treatment

answer

class IA, IC, III (b-blocker or Ca2+ channel bloacker for rate control)

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2nd degree heart block

answer

Mobitz type I (asymptomatic) Mobitz type II (dropped beats not preceded by change in length of PR), treat w/ pacemaker

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Aortic arch receptors

answer

responds to increase in BP via VAGUS nerve

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Carotid sinus receptors

answer

responds to changes in BP with glossopharyngeal (CN IX) nerve

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Coarctation of aorta (preductal) assoc with:

answer

Turners syndrome

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PDA associated with:

answer

congenital rubella

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Differential cyanosis associated with:

answer

PDA (late cyanosis in lower extremities)

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Heart defect associated with 22q11 syndromes

answer

truncus arteriosus, TOF

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Heart defects assoc w/ down syndrome

answer

ASD, VSD, AV septal defect (endocardial cushion defect)

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Heart defect assoc w. congenital rubella

answer

septal defects, PDA, pulm artery stenosis

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Heart defect assoc w/ marfans syndrome

answer

aortic insuff. & dissection

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Heart defect assoc. w/ infant of diabetic mother

answer

transposition of great vessels

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Abdominal aortic aneurysm assoc. with

answer

ATHEROSCLEROSIS

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Thoracic aortic aneurysm assoc with

answer

HTN, cystic medial necrosis (MARFANS), tertiary syphilis

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MCC of aortic dissection

answer

HYPERTENSION! also seen in connective tissue disorders (ehlers danlos, marfans)

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What do you use to diagnose Printzmetals angina?

answer

Ergonovine (alpha agonist, 5HT agonist)

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Normal HTN in elderly

answer

age related decrease in compliance of aorta --> SYSTOLIC HTN

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Causes of dilated CM

answer

Infectious myocarditis Alcohol Doxorubicin Wet beriberi Chagas disease Hemachromatosis *SYSTOLIC dysfunction ECCENTRIC HYPERTROPHY *can be caused by AD mut in dystrophin (cytosksel proteins)

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Causes of restrictive CM

answer

Amyloidosis Sarcoidosis Metastatic cancer Inborn metabolic error Hemachromatosis (both) *DIASTOLIC dysfunction

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Evolution of MI

answer

0-4 hr- MINIMAL CHANGE! 4-12 hr- early coag necrosis, edema, hemorrhage, wavy fibers 12-24 hours- coag necrosis, marginal contraction band fibrosis 1-5 d-coag necrosis, neutrophil infiltrate 5-10 d-macrophage phagocytosis 10-14 d-granulation tissue, neovasc 2 weeks-2mo -collagen deposition and scar dormation

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Most common sites of coronary occlusion

answer

LAD > RCA > circumflex

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Transmural infarct

answer

ST elevation pathologic Q waves

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Anterior wall infarct (LAD)

answer

V1-V4

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Anteroseptal infarct (LAD)

answer

V1-V2

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Anterolateral infarct (LCX)

answer

V4-V6

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Lateral wall infarct (LCX)

answer

I, AvL

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Inferior wall infarct (RCA)

answer

II, III, aVF

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Posterior wall infarct (PDA)

answer

V6

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Mi complications

answer

Early- arrythmia, CHF exacerbation, cardiogenic shock 1-3 days- fibrinous pericarditis 3-7 days- ventricular wall rupture, IV septum rupture, vent aneurysm after 2 weeks- Dressler's syndrome (autoimmune pericarditis)

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Causes of hypertrophic CM

answer

*AD mut in B-myosin heavy chain (cardiac sarcomere gene)- hypertrophied IV septum --> outflow tract obstruction assoc w/ Friedreich's ataxia disordered myocardial fibers *DIASTOLIC DYSFUNCTION Concentric hypertrophy S4, systolic murmur, normal EF

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Lofflers syndrome

answer

endomyocardial fibrosis with prominant eosinophilia (restrictive CM)

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What drugs reduce mortality in CHF?

answer

ACE-inhib B-blockers ARB Spironolactone

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ANP and BNP respond to:

answer

volume overload/CHF

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Endocarditis bugs

answer

S.aureus- prev normal valves, rt sided, IVDA Viridans- dental procedures (low virulence) S. epidermidis- prosthetic valves S. bovis- assoc w/ colon cancer Enterococci- assoc w/ GU procedures

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Tricuspid valve endocarditis

answer

S. aureus, Pseudomonas, Candida

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MCC of early death in rheumatic fever

answer

MYOCARDITIS!

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Acute pericarditis

answer

widespread ST elevation or PR depression sharp pain aggrevated by inspiration relieved by sitting up/leaning forward friction rub

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Cardiac tamponade

answer

distant heart sounds pulsus paridoxus inc. JVD hypotension, inc HR

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MC adult cardiac primary tumor

answer

myxoma (LA)

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MC childhood cardiac tumor

answer

Rhabdomyoma assoc. with tuberous sclerosis

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Major consequence of Kawasaki disease

answer

Coronary aneurysm--> MI in young child Treat with ASPIRIN!!

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Sturge-Weber disease

answer

Port-wine stain (nevus flammeus) on face leptomeningeal angiomatosis seizures, galucoma *congenital vasc. disorder affecting small vessels

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Liver angiosarcoma associated with

answer

VINYL CHLORIDE, ARSENIC, thorium dioxide these are malignant tumors

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Cavernous hemangioma

answer

Benign lesion of liver/spleen small vessel endothelium (found in cerebellum/ retina in VHL disease)

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Bilateral renal angiomyolipoma is associated with

answer

tuberous sclerosis!

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ADH and Oxytocin go from hypothalamus to post. pit via?

answer

NEUROPHYSINS

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Posterior pituitary derived from?

answer

Neuroectoderm (neurohypophysis)

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Anterior pituitary derived from?

answer

Ectoderm (Rathke's pouch) its the adenohypophysis

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Anterior pituitary produces

answer

FLAT PeG + MSH FSH, LH, ACTH, TSH, Prolactin, GH

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GLUT distribution

answer

GLUT1- RBC, brain GLUT2- B cells, liver, kidney, SI GLUT4- skel muscle, adipose (insulin dep)

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Can brain use ketones?

answer

Yes, only in starvation!

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Can RBCs use ketones?

answer

NO!! They have no mitochondria for aerobic metabolism

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Insulin release is increased by:

answer

hyperglycemia, GH, B2 agonists

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Insulin release is decreased by:

answer

hypoglycemia, somatostatin, alpha-2 agonists

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What inhibits glucagon release?

answer

insulin, somatostatin, hyperglycemia

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Dopamine does what to prolactin?

answer

INHIBITS secretion

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What factors increase prolactin release?

answer

Estrogen Serotonin ACh Opiates TRH

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Biceps reflex

answer

C5

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Triceps reflex

answer

C7

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Patella reflex

answer

L4

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Achilles reflex

answer

S1

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Enzyme deficiency in Tay Sachs

answer

AR Hexosaminidase A (buildup of GM2)

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Enzyme def in Gauchers

answer

AR Glucocerebrosidase (buildup of glucocerebroside)

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Enzyme def in Fabrys

answer

XR alpha-galactosidase A (buildup of ceramide trihexoside)

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Enzyme def in Niemann Pick

answer

AR Sphingomyelinase (buildup of sphingomyelinase)

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Enzyme def in Metachromic leukodystrophy

answer

AR Arylsulfatase A (buildup of sulfatides)

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Enzyme def in Krabbes

answer

AR Galactocerebrosidase (galactocerebroside)

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Enzyme def in Hurlers disease

answer

AR alpha-L-iduronidase (buildup of heparan sulfate, dermatan sulfate) gargoylism, airway obst., corneal clouding, HSM

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Enzyme def in Hunters disease

answer

XR Iduronate sulfatase (buildup of heparan sulfate, dermatan sulfate)

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CMV binds what cell receptor?

answer

Cellular integrins

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EBV binds what cell receptor?

answer

CR2 (CD21)

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HIV binds what cell receptor?

answer

CD4, CXCR4/CCR5

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Rabies virus binds what cell receptor?

answer

Ach

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Rhinovirus binds what cell receptor?

answer

ICAM1 (CD54)

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Somatostatin inhibits:

answer

GH, TSH insulin, glucagon, gastrin

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Somatostatinoma presents like:

answer

Achlorhydria Cholelithiasis Steatorrhea

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VIPoma presents like:

answer

Watery diarrhea Hypokalemia Achlorhydria **WDHA syndrome

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Retroperitoneal structures

answer

SAD PUCKER Suprarenal gland, Aorta (& IVC), Duodenum (2nd, 3rd parts), pancreas (except tail), uterers, colon (descending, ascending), kidneys, esophagus (lower 2/3), rectum (lower 2/3)

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Hepatoduodenal ligament connects and contains?

answer

connects liver to duodenum contains portal triad: PORTAL VEIN, HEPATIC ARTERY, COMMON BILE DUCT "pringle maneuver" stops bleeding

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Gastic banding surgery goes through?

answer

LESSER omentum gastrohepatic & hepatoduodenal ligaments

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Whats in gastrohepatic ligament?

answer

Gastric arteries

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Leyers of digestive tract

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Mucosa (epithelium, lamina propria, musc. mucosa) Submucosa Muscularis externa Serosa

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Submucosal plexus (Meissners)

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controls secretory activity

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Myenteric plexus (Auerbachs)

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controls muscle contractions

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SMA syndrome

answer

transverse (3rd) part of duodenum is trapped between SMA and aorta leading to intestinal obstruction

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Abdominal aorta branches

answer

Celiac trunk (T12) SMA (L1) L. renal artery (L1) IMA (L3) Bifurcation of aorta (L4)

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GI blood supply

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Foregut- Celiac artery, vagus nerve Midgut- SMA, vagus nerve Hindgut- IMA, pelvic nerve

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Portosystemic anastamosis

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1. paraumbilical to epigastric (caput medusae) 2. left gastric to esophageal (esophageal varices) 3. superior rectal to middle/inferior rectal (internal hemorrhoids)

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Hemorrhoids

answer

Internal = PAINLESS (drain to portal system) External = PAINFUL (drain to IVC), lymph to superficial inguinal nodes

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Liver zones

answer

Zone 1 (periportal)- viral hep Zone 3 (pericentral vein)- ischemic injury, alcoholic/toxic injury, P450 system

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Duadonal associations

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Part 1- gastroduodenal artery Part 2- head of pancreas Part 3 (transverse)- SMA syndrome (trapped between SMA and Aorta)

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Indirect inguinal hernia

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through deep inguinal ring, superficial inguinal ring, and into the SCROTUM *failure of processus vaginalis to close (can form hydrocele also) LATERAL to inf. epigastric artery

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Direct inguinal hernia

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through Hesselbachs triangle, through abdominal wall , goes through superficial inguinal ring only covered by external spermatic fascia MEDIAL to IEA

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Whats the leading cause of bowel incarceration?

answer

Femoral hernia

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Parts of SI

answer

DUODENUM- secretes alkaline fluid, lipid digestion, Fe absorption JEJUNUM- more goblet cells, lipid absorption, folate abs. ILEUM- peyers patches, B12 abs

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GI hormones

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Gastrin (G cells- stomach antrum) CCK (I cells- duodenum, jejunum) Secretin (S cells- duodenum) Somatostatin (D cells- panc islets, GI mucosa) GIP (K cells- duodenum, jejunum) VIP (parasymp ganglia) NO Motilin (SI)

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Saliva

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High HCO3-, K+ hypotonic

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Which AA stimulate gastrin release?

answer

Phenylalanine, Tryptophan

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Absorption of Glucose & Galactose

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SGLT1 (Na + dependent)

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Absorption of Fructose

answer

Facilitated diffusion (GLUT5)

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Fe absorbed in

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Duodenum

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Folate absorbed in

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Jejunum

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B12 absorbed in

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Ileum

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Sucrose is broken down into

answer

fructose and glucose

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benign salivary gland tumors

answer

pleomorphic adenoma (cartilage + epithelium) warthins tumor (cystic tumor w/ germinal centers)

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malignant salivary gland tumor

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mucoepidermoid carcinoma- mucionous and squamous components painful mass, involves facial nerve

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Achalasia has loss of which plexus?

answer

Myenteric (auerbachs)

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Achalasia increases risk of:

answer

esophageal SCC

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GERD increases risk of:

answer

esophageal adenocarcinoma

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Precursor lesions to SCC of the oral cavity

answer

Leukoplakia Erythroplakia (vascularized, more suggestive of dysplasia)

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Whipples disease

answer

Infxn with Tropheryma whipplei PAS + foamy macrophages in intestinal lamina propria (PAS stains glycoprotein) CAN- cardiac symptoms, arthralgias, neuro sympt.

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Celiac sprue has IgA against

answer

endomysium tissue transglutaminase gliadin (assoc. with dermatitis herpetiformis)

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Erosions only go into the:

answer

mucosa

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Ulcers go through the

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submucosa

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Type A gastritis

answer

FUNDUS/BODY autoantibodies to parietal cells pernicious anemia, achlorhydria

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Type B gastritis

answer

ANTRUM H. pylori increase risk of MALT lymphoma

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Menetriers disease

answer

gastric hypertrophy with protein loss, parietal cell atrophy, inc. mucous cells PRECANCEROUS

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Mets of intestinal type gastric cancer

answer

Sister mary joseph nodule (subcut. periumbilical mets)

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Mets of diffuse type gastric cancer

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Krukenbergs tumor- bilat mets to ovaries

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Major risk factors for intestinal type gastric cancer

answer

H. pylori, NITROSAMINES, achlorhydria, chronic gastritis, type A blood

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Duodenal ulcer

answer

pain DECREASED with meals 100% assoc w/ H. pylori generally benign seen in ZE syndrome, hypertrophy of brunners glands

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Gastric ulcer

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pain INCREASED with meals 70% assoc. w/ H pylori increased risk of cancer

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Rupture of ulcer on lesser curvature of stomach

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Bleeding from left gastric artery

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Perforation of duodenal ulcer (posterior wall)

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Bleeding from gastroduodenal artery

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Chrons is mediated by

answer

TH1

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Ulcerative colitis is mediated by

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TH2

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"L. sided appendicitis"

answer

diverticulitis LLQ pain, fever, leukocytosis can lead to colovesical fistula

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Zenkers diverticulum

answer

herniation of mucosal tissue at Killians triangle (btwn thyropharyngeal and cricopharyngeal parts of inf. pharyngeal constrictor) FALSE divertivulum -halitosis, dysphagia, obstruction

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Cause of intussusception and pancreatitis in children

answer

LYMPHOID HYPERPLASIA

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Hirschsprings disease

answer

need to biopsy SUBMUCOSA to diagnose (rectal suction biopsy) failure of neural crest cell migration to colon (always involves rectum) --> early constipation, inability to pass stool lack of ganglion cells/enteric nerve plexuses

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Failure of recanalization of small bowel =

answer

duodenal atresia seen in down syndrome

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What increases risk of malignancy for colon polyps?

answer

VILLOUS histology, larger SIZE increased epithelial dysplasia

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Peutz Jegher syndrome

answer

STK11 gene mutation AD multiple hamartomas in GI tract hyperpigmented mouth, lips, hands, genitals increased risk colon, breast, gyn, other visceral malignancies

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Most common locations of colon cancer

answer

RECTOSIGMOID > ascending > descending

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Ascending colon cancer symptoms

answer

iron deficiency anemia, weight loss, occult blood exophytic mass

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Descending colon cancer symptoms

answer

infiltrating mass, partial obstruction, hematochezia, colicky pain APPLE CORE/ napkin ring lesion

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Rectal adenocarcinoma

answer

THIN STOOL

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HNPCC syndrome

answer

AD mut in DNA mismatch repair gene (MLH1, MSH2) assoc. with microsatellite instability pathway

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Adenoma-carcinoma sequence

answer

1. Loss of APC (colon at risk) 2. Mut in k-RAS (leads to adenoma, increased size of polyp) 3. Loss of p53, DCC (formation of carcinoma) *increased COX also increases risk

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Consequences of cirrhosis

answer

Liver failure - hypoalbuminemia, edema, lack clotting factors, hyperammonium, decreased catabolism of estrogen (leads to gynecomastia, test. atrophy, spider angiomata), portal hypertension

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Histologic findings of acute hepatitis

answer

Ballooning degeneration Councilman bodies (eosinophilic)

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Histological findings in alcoholic hepatitis

answer

swollen & necrotic hepatocytes neutrophil infiltration Mallory bodies (intracytoplasmic eosinophilic inclusions)

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Liver tumor associated with arsenic, polyvinyl chloride

answer

Liver angiosarcoma MALIGNANT

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Liver tumor assoc. with aflatoxin, hep B & C, Wilsons, A1aT def, etc

answer

Hepatocellular carcinoma MALIGNANT

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Carbon tetrachloride associated with:

answer

Centrilobular necrosis, fatty change of liver

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Defect in Dubin-Johnson syndrome

answer

MRP2 (active transport of conjugated bili out of liver) --> black liver, benign

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Mutation in Wilsons disease

answer

AR mut of ATP7B copper accum in liver, brain, CORNEA, kidneys, joints

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Mutation in hemachromatosis

answer

AR mut in C282Y or H63D in HFE gene Assoc w/ HLA-A3 cirrhosis, "bronze" diabetes, CHF, HCC, testicular atrophy, degen joint disease

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Gallstones

answer

Cholesterol stones (80%) PIgment stones- black (hemolysis), brown (infection)- E. coli, ascaris, clonorchis

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Factors that increase gallstone formation

answer

Female, Fat, forty, fertile estrogen fibrates, bile acid resins

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Factors that decrease gallstone formation

answer

High bile salts, high phosphatidyl choline, high 7alpha-hydroxylase

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Causes of pancreatitis

answer

GET SMASHED gallstones, ethanol, trauma, steroids, mumps, autoimmune disease, scorpion sting, hypercalcemia, hyperTG, ERCP, drugs (sulfa)

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Pancreatic pseudocyst lined by

answer

GRANULATION TISSUE

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Whats elevated in acute pancreatitis?

answer

amylase lipase (higher specificity)

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Trousseaus syndrome (pancreatic cancer)

answer

migratory thrombophlebitis, redness and tenderness on palpation of extremities HYPERCOAGULABILITY

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Courvoisiers sign

answer

obstructive jaundice with palpable, nontender gallbladder

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What is the charge barrier of the glomerular BM?

answer

heparan sulfate

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Sites of mets in renal cell carcinoma

answer

LUNG, BONE

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What cell type does renal cell carcinaoma originate from?

answer

proximal tubule cells POLYGONAL CLEAR CELLS filled w/ lipid and carbs

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Paraneoplastic syndromes assoc. with RCC

answer

EPO, ACTH, PTHrP

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Beckwith Wiedmann Synd

answer

Wilms tumor Neonatal hypoglycemia muscular hemihypertrophy organomegaly

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Wilms tumor

answer

Del. of tumor suppressor gene (WT1) most common renal malignancy of childhood palpable flank mass, hematuria

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WAGR syndrome

answer

Wilms tumor Aniridia GU malformaiton Mental retardation

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Transitional cell carcinoma assoc.

answer

Phenacetin, Smoking, analine dyes, cyclophosphamide multifocal, tends to RECUR

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Acute pyelonephritis treatment

answer

Ciprofloxacin VUR repair

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what causes interstitial nephritis

answer

diuretics, penicillin deriv., sulfonamides, rifampin HSR, eosinophils in urine

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what causes acute tubular necrosis?

answer

aminoglycosides, amphotericin B, contrast dye, heavy metals, ethylene glycol, urate also renal ischemia, crush injury

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Stages of ATN

answer

1. Inciting event (dec GFR, oliguric) 2. Maintenance phase (oliguric, hyperKalemia, vol overload) 3. Recovery phase (polyuric, hypokalemia, volume depletion), re-epitheliazation of tubules

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Signs of chronic renal failure

answer

Waxy broad casts Fixed specific gravity Free water clearance = 0 Inc. BUN and creatinine (UREMIA)

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ADPKD is associated with:

answer

berry aneurysms, MVP, benign liver cysts

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When will you see shrunken kidneys on ultrasound?

answer

Medullary cystic disease (AD) Chronic renal failure

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Prolonged urinary tract obstruction leads to:

answer

Hydronephrosis atrophy of renal parenchyma fibrosis, mononuclear infiltrate, tubular atrophy

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NTD markers

answer

High AFP High AChE in amniotic fluid

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Anencephaly markers

answer

high AFP polyhydramnios

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neurons stain + for

answer

synaptophysin

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astrocyte marker

answer

GFAP

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what cells are destroyed in MS?

answer

oligodendrocytes

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what cells are destroyed in Guillain-barre?

answer

schwann cells

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unmyelinated nerve fibers

answer

group C

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Endoneurial inflammation

answer

Guillain-barre syndrome

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NE

answer

locus ceruleus (pons) inc in anxiety, low in depression

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Dopamine

answer

ventral tegmentum, SNc high in schizophrenia, low in parkinsons and depression

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5-HT

answer

raphe nucleus (pons) low in anxiety, low in depression

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ACh

answer

basal nucleus of meynert low in alzheimers, low in hunting tons high in REM sleep

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GABA

answer

nucleus accumbens (reward center, pleasure) Low in anxiety, low in huntingtons

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vomiting center

answer

area postrema (dorsal surface of medulla)

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areas not protected by BBB

answer

OVLT (senses osmolarity) area postrema (emetic center)

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supraoptic nucleus

answer

ADH

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paraventricular nucleus

answer

oxytocin

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Hypothalamus

answer

Lateral- hunger Ventromedial- satiety Anterior- cooling (parasymp) Posterior- heating (symp) Suprachiasmatic nucleus- circadian rhythm

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Thalamus

answer

VPL- sensation body VPM- sensation/taste face LGN- vision (CNII) *LIGHT = L MGN- hearing *MUSIC = M VL- motor (basal ganglia) **everything except OLFACTION relays through the thalamus

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Dopamine in the basal ganglia

answer

FACILITATES movement activates direct pathway (D1) inhibits indirect pathway (D2)

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Parkinsons

answer

low dopamine Lewy bodies (alpha-synuclein) tremor, cogwheel rigidity, akinesia, postural instability

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Huntingtons

answer

low GABA, low ACh, low SP high dopamine Chorea, CAG repeats, caudate degen.

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Treatment for essential tremor

answer

B-blockers, primidone

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Conduction aphasia

answer

damage to arcuate fasciculus

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PCO2 in the brain

answer

cerebral vasodilator

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MCA lesion

answer

Upper limb/face sensory and motor loss Aphasias

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ACA lesion

answer

lower limb sensory and motor loss urinary incontinence

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Lateral striate stroke

answer

contralat hemiparesis, hemiplegia

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ASA lesion

answer

"medial medullary syndrome" contralat hemiparesis of lower limbs ipstilat hypoglossal dysfunction

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PICA lesion

answer

"lateral MEDULLARY synd" Vom, vertigo, nystagmus DYSPHAGIA, HOARSENESS, dec. gag reflex ipsilat. horners, ataxia, dysmetria CN V, VIII, IX, X, XI

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AICA lesion

answer

"lateral PONTINE synd" Vom, vertigo, nystagmus, ataxia, dysmetria PARALYSIS OF FACE (dec. lacrimation, dec taste from ant 2/3 tongue, dec CORNEAL reflex) ipsilat. horners

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PCA lesion

answer

contralat hemianopia with MACULAR SPARING

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AComm lesion

answer

common site of saccular aneurysm visual field defects

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Pcomm lesion

answer

berry aneurysms CN III palsy "down and out", ptosis, mydriasis

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rupture of berry aneurysms cause

answer

SUBARACHNOID HEMORRHAGE (WHOML) assoc. with ADPKD, ehlers-danlos, marfans

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Charcot-Bouchard microaneurysm is associated with

answer

chronic HTN causes small vessel hemorrhagic stroke (basal ganglia, thalamus, IC)

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Amyloid angiopathy causes

answer

LOBAR hemorrhage

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Bright areas on non contrast CT indicate:

answer

hemorrhage

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Normal pressure hydrocephalus

answer

Inc. subarachnoid space volume (no inc. in pressure) Stretch cortical fibers of corona radiate --> TRIAD: urinary incontinence, ataxia, cognitive dysfunction ("wet, wobbly, wacky")

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Lumbar puncture

answer

between L3-L4, L4-L5 dont pierce the pia!

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Lateral horn found at

answer

T1-L2

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ALS defect

answer

SOD1 mutation UMN & LMN defects anterior horn- LMN lesion lateral corticospinal tract- UMN lesion

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Tabes dorsalis

answer

Degen of DORSAL columns Impaired sensation and proprioception, progressive sensory ataxia Charcot's joints, shooting pain, Argyll Robertson pupil absent DTR, + Romberg caused by tertiary syphilis

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Subacute combined degeneration

answer

B12 or Vit E def. Demyelination of dorsal columns, lat corticospinal tracts, spinocerebellar tracts ataxia, paresthesia, impaired position & vibratory sense

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Werdnig hoffman disease

answer

AR, congenital degen of anterior horn leading to LMN defects "floppy baby" hypotonia, tongue fasciculations, death ~7 months

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Friedreich's ataxia

answer

AR trinuc repeat "GAA" frataxin gene, impaired mito function (iron homeostasis, respiratory function) staggering, falling, dysarthria, nystagmus, pes cavus, HYPERTROPHIC CM, kyphoscoliosis

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Germinoma

answer

pineal gland tumor precocious puberty, obstructive hydrocephalus parinaud syndrome (vertical gaze paralysis)

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Facial nerve palsy (complete)

answer

Ipsilateral facial paralysis Inability to close eye on involved side Decreased tearing ipsilat. Increased salivation ipsilat. HYPERACUSIS (stapes oscillates more widely) Loss of taste on ant 2/3 of tongue

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Presbycusis

answer

High freq sensorineural hearing loss in elderly loss of hair cells at base of cochlea

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What makes the aqueous humor?

answer

ciliary epithelium

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CN III damage (oculomotor)

answer

eye looks "down and out" ptosis, mydriasis, loss of accommodation

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CN IV damage (trochlear)

answer

eye moves upward contralateral head tilt problems going down stairs

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CN VI damage (abducens)

answer

medially directed eye, can't abduct internal strabismus (horizontal diplopia)

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test obliques while...

answer

ADDUCTING eye

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Miosis controlled by

answer

CN III parasympathetic (short ciliary nerves to pupillary sphincter muscles)

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Mydriasis controlled by

answer

sympathetic long ciliary nerve to pupillary dilator muscles

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Marcus Gunn pupil

answer

**AFFERENT pupillary defect decreased bilat pupillary constriction when light shone in affected eye (swinging flashlight test)

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Treatment for "wet" macular degeneration

answer

anti-VEGF (ranibizumab, pegaptanib)

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Hemianopia with macular sparing

answer

PCA infarct

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Alzheimers treatment

answer

Cholinesterase inhibitors (donepezil) Vit E (anti ox) NMDA receptor antag (memantine)

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Pilocytic astrocytoma

answer

Rosenthal fibers CYSTIC + SOLID GFAP positive found in cerebellum benign tumor found in kids

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Medulloblastoma

answer

Homer-wright rosettes, solid, small blue cells MALIGNANT cerebellar tumor in kids drop mets to SC

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Ependymoma

answer

childhood brain tumor ependymal cells of 4th ventricle perivascular PSEUDOROSETTES can cause hydrocephalus

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Hemangioblastoma

answer

Cerebellar tumor seen in VHL can produce EPO "foamy cells"

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Craniopharyngioma

answer

benign childhood brain tumor derived from RATHKEs pouch calcifications common SUPRAtentorial

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S-100 positive tumors

answer

schwannoma, melanoma, neuroblastoma

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