question

ACE Inhibitors (teratogen effect)

answer

Renal damage

question

Alkylating agents (teratogen effect)

answer

Absence of digits, multiple anomalies

question

Aminoglycosides (teratogen effect)

answer

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

question

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)

question

Folate antagonists (teratogen effect)

answer

NTDs

question

Lithium (teratogen effect)

answer

Ebstein's anomaly (atrialized right ventricle)

question

Phenytoin (teratogen effect)

answer

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

question

Tetracyclines (teratogen effect)

answer

Discolored teeth, growth retardation

question

Thalidomide (teratogen effect)

answer

Limb defects (flipper limbs)

question

Valproate (teratogen effect)

answer

Inhibition of maternal folate absorption (NTDs)

question

Warfarin (teratogen effect)

answer

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

question

Alcohol (teratogen effect)

answer

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

question

Cocaine (teratogen effect)

answer

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

question

Smoking (teratogen effect)

answer

Preterm labor, placental problems, IUGR, ADHD

question

Iodide (teratogen effect)

answer

Congenital goiter or hypothyroidism (cretinism)

question

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

question

Vitamin A (teratogen effect)

answer

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

question

X-rays (teratogen effect)

answer

Microcephaly, mental retardation

question

Bugs that stain with Giemsa

answer

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

question

Bugs that stain PAS+

answer

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

question

Bugs that stain Ziehl-Neelson (carbol fuschion)

answer

Acid-fast organisms (Nocardia, Mycobacterium)

question

Bugs that stain with India Ink

answer

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

question

Bugs that stain with silver stain

answer

Fungi (PCP), Legionella, H. pylori

question

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

answer

H. influenza

question

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)

question

What bug needs Bordet-Gengou (potato) agar?

answer

Bordetella pertussis (BORDET needs BORDET)

question

What bug needs Tellurite plate or Lofflers media?

answer

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

question

What bug needs Lowenstein-Jensen agar?

answer

M. Tb

question

What bug needs Eaton's agar?

answer

M. Pneumoniae

question

What bugs form pink colonies on MacConkeys agar?

answer

Lactose-fermenting enterics (E. Coli, etc)

question

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

answer

E. Coli

question

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

answer

Legionella

question

What bug grows on Sabouraud's agar?

answer

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

question

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

question

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

question

Bacteria producing Protein A

answer

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

question

Bacteria producing IgA protease?

answer

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

question

Bacteria producing M protein

answer

Group A strep prevents phagocytosis

question

Conjugated vaccines

answer

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

question

Bacteria that inhibit protein synthesis with exotoxin against EF-2

answer

Corynebacterium diptheria Pseudomonas aeruginosa

question

Bacteria that inhibit protein synthesis by inactivating the 60S ribosome

answer

Shigella EHEC (shiga like toxin)

question

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

question

Bacteria that use exotoxin to inhibit phagocytosis

answer

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

question

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

question

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

question

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

question

What endocrine hormones use cAMP signaling pathway?

answer

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

question

What endocrine hormones use cGMP signaling pathway?

answer

ANP, NO (EDRF) **think vasodilators

question

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)

question

What endocrine hormones use steroid receptor signaling pathway?

answer

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

question

Nuclear receptors

answer

Thyroid hormone, Retinoids, PPAR, Fatty acids

question

Cytoplasmic receptors

answer

Steroids, Androgens, Estrogen

question

What endocrine hormones use intrinsic tyrosine kinase signaling pathway?

answer

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

question

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

answer

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

question

What adrenergic receptors use Gi signaling?

answer

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

question

What adrenergic receptors use Gq signaling?

answer

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

question

What adrenergic receptors use Gs signaling?

answer

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

question

Thyroid receptor

answer

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

question

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

question

Cretinism associated with:

answer

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

question

Subacute (de Quervains) thyroiditis is associated with:

answer

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

question

Reidels thyroiditis is associated with:

answer

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

question

Graves disease associated with:

answer

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

question

Papillary thyroid carcinoma

answer

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

question

Follicular thyroid carcinoma

answer

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

question

Medullary thyroid carcinoma

answer

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

question

Undifferentiated/anaplastic thyroid carcinoma

answer

Most malignant, very aggressive, worst prognosis Universally FATAL

question

Hot thyroid nodules

answer

Graves, toxic goiter (rarely malignant)

question

Cold thyroid nodules

answer

cyst, adenoma, cancer

question

Thyroglobulin

answer

Marker for papillary and follicular thyroid cancer

question

Pseudohypoparathyroidism

answer

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

question

Chvosteks sign

answer

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

question

Trousseaus sign

answer

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

question

Sonic hedgehog gene controls:

answer

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

question

Wnt-7 gene controls:

answer

organization along dorsal-ventral axis

question

FGF gene controls:

answer

lengthening of limbs, stimulates mitosis of mesoderm

question

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)

question

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

question

Neuroectoderm derivatives

answer

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

question

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

question

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

question

Mesodermal defects

answer

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

question

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)

question

Fetal alcohol syndrome

answer

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

question

Dizygotic twins placenta

answer

dichorionic, diamniotic

question

Most common monozygotic twin placenta type

answer

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

question

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

question

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

question

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

question

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

question

3rd aortic arch derivatives

answer

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

question

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

question

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)

question

1st branchial pouch

answer

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

question

2nd branchial pouch

answer

epithelial lining of palatine tonsil

question

3rd branchial pouch

answer

thymus (ventral wings) inferior parathyroids (dorsal wings)

question

4th branchial pouch

answer

superior parathyroids (dorsal wings)

question

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

question

MEN2A

answer

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

question

Cleft lip

answer

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

question

Cleft palate

answer

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

question

Vagina and ectocervix epithelium

answer

stratified squamous

question

Endocervix epithelium

answer

simple columnar epithelium

question

Uterine epithelium

answer

simple columnar epithelium, pseudostratified tubular glands

question

Fallopian tube epithelium

answer

simple columnar, ciliated

question

Ovary epithelium

answer

simple cuboidal epithelium

question

What is in the suspensory ligament of ovary?

answer

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

question

What is in the cardinal ligament?

answer

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

question

What is in the round ligament of the uterus?

answer

Artery of Sampson connects uterine fundus to labia majora

question

What is in the broad ligament?

answer

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

question

Emission and ejaculation are controlled by what nerves?

answer

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

question

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

answer

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

question

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

answer

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

question

Down Syndrome triple screen:

answer

Low urine estriol Low serum AFP High serum bHCG

question

HPV mechanism

answer

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

question

General ovarian cancer marker

answer

CA-125, monitors progression and recurrence

question

Surface ovarian tumors

answer

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

question

Tumor marker for choriocarcinoma

answer

hCG

question

Granulosa cell tumor

answer

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

question

Krukenberg tumor

answer

GI malignancy with mets to bilateral ovaries (diffuse type)

question

Meig's syndrome

answer

triad of ovarian fibroma, ascites and hydrothorax

question

Which ovarian tumor resembles urothelium?

answer

Brenner tumor (pale, yellow-tan encapsulated tumor)

question

What tumors cause mets to the ovary?

answer

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

question

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

answer

Inguinal nodes

question

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

answer

Regional iliac nodes

question

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

question

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

question

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

question

Choriocarcinoma response to chemo

answer

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

question

Calcifications on mammogram

answer

DCIS Sclerosing adenosis Fat necrosis

question

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)

question

Which breast cancer has lymphocytic infiltrate?

answer

Medullary breast cancer

question

Mutation in lobular carcinoma of breast

answer

CDH1 mutation, lack e-cadherin discohesive cells

question

Her2 receptor

answer

cell surface growth factor receptor

question

Poor prognosis breast cancer

answer

ER, PR, HER2 negative "triple negative"

question

BRCA1

answer

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

question

BRCA2

answer

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

question

Yolk sac tumor marker

answer

AFP Schiller-Duval bodies (glomeruloid)

question

beta-hCG mimics

answer

thyroid hormone

question

Choriocarcinoma metastasis

answer

rapidly metastasizes into the blood goes to the lung

question

Teratomas

answer

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

question

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

answer

Testicular lymphoma (diffuse large B cell lymphoma)

question

Choriocarcinoma tumor marker

answer

Beta-hCG

question

Prostatic adenocarcinoma mets

answer

bone mets (lumbar spine) osteoBLASTIC lesions- sclerotic

question

Thigh ADduction

answer

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

question

Thigh ABduction

answer

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

question

Thigh FLEXORS

answer

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

question

Thigh EXTENSORS

answer

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

question

Sciatic nerve splits into:

answer

common peroneal, tibial

question

Functions of common peroneal nerve

answer

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

question

Functions of tibial nerve

answer

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

question

Site of pudendal nerve block

answer

Ischial spine (S2-S4)

question

Leg extension controlled by which nerve?

answer

Femoral

question

Leg flexion controlled by which nerves?

answer

sciatic (tibial) and others

question

Thigh movements overall:

answer

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

question

Osteoclast markers:

answer

urinary deoxypyridinoline hydroxyproline tartrate resistant acid phosphatase

question

Osteoblast marker:

answer

Alk phosphatase (bone specific)

question

Mutation in achondroplasia

answer

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

question

Mutation in osteopetrosis

answer

Carbonic anhydrase II (failure of normal bone resorption)

question

Potential complications of Paget's disease of bone

answer

High output cardiac failure Osteogenic sarcoma Hearing loss

question

Osteomyelitis affects what part of bone?

answer

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

question

Most common causes of osteomyelitis

answer

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

question

Most common sites of AVN

answer

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

question

Common tumor in bone epiphysis

answer

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

question

Common tumor in bone metaphysis

answer

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

question

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)

question

HLA associated with RA

answer

HLA-DR4

question

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

question

Joint findings in osteoarthritis

answer

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

question

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)

question

Gout

answer

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

question

Pseudogout

answer

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

question

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

question

Bechets

answer

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

question

Common cause of death in SLE

answer

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

question

Antiphospholipid syndrome

answer

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

question

Drug induced lupus marker

answer

Anti-histone Ab *Hydralazine, isoniazid, procainamide

question

Polymyositis

answer

Progressive symmetrical proximal muscle weakness ENDOmysial inflammation CD8+ T cells

question

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

question

Marker of polymyositis, dermatomyositis

answer

anti-Jo-1 Ab Increased CK

question

Myasthenia gravis

answer

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

question

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

question

What do you use to test for myasthenia gravis?

answer

Edrophonium (short acting anti cholinesterase)

question

Diffuse scleroderma marker

answer

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

question

CREST syndrome

answer

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

question

Spongiosis

answer

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

question

Hyperkeratosis

answer

Increased thickness of stratum CORNEUM (psoriasis, chronic eczema)

question

Parakeratosis

answer

Hyperkeratosis with retention of nuclei in stratum corneum (psoriasis)

question

Acantholysis

answer

Separation of epidermal cells (pemphigus vulgaris)

question

Acanthosis

answer

Epidermal hyperplasia (increased spinosum)- acanthuses nigricans, psoriasis

question

Dermatitis

answer

Inflammation of the skin (Atopic dermatitis)

question

Albinism

answer

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

question

Vitiligo

answer

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

question

Solar lentigo

answer

Increased NUMBER of melanocytes brown macules in the elderly

question

Freckle

answer

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

question

Eczema

answer

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

question

Allergic contact dermatitis

answer

Type IV HSR Spongiosis

question

Leser-Trelat sign

answer

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

question

Auspitz sign

answer

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

question

Bullous pemphigoid

answer

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

question

Pemphigus vulgaris

answer

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

question

Dermatitis herpetiformis

answer

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

question

Pemphigus vulgaris & bullous pemphigoid are Type ? HSR

answer

Type II HSR

question

Dermatitis herpetiformis is Type ? HSR

answer

Type III HSR

question

Erythema multiforme and SJS are Type ? HSR

answer

Type IV HSR Cytotoxic CD8+ T cell mediated

question

Actinic keratosis

answer

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

question

Lichen planus is associated with?

answer

Hep C

question

Necrotizing fasciitis caused by:

answer

Strep pyogenes "flesh eating bacteria"

question

Impetigo caused by:

answer

S. aureus, S. pyogenes Honey colored crusts

question

Basal cell nevus syndrome

answer

mutation in PATCHED --> 50-100 BCC

question

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

question

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

question

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

question

Hypertensive retinopathy

answer

copper wiring AV nicking

question

Diabetic retinopathy

answer

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

question

Xeroderma pigmentosum

answer

AR mut in NER of thymidine dimers from sun exposure

question

Deamination

answer

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

question

HNPCC

answer

AD defect in DNA mismatch repair

question

Ataxia telangiectasia

answer

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

question

alpha-amanitin (amanita phalloides)

answer

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

question

beta-thalassemia

answer

splice site mutation

question

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

question

Chediak Higashi

answer

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

question

Kartageners

answer

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

question

Neuroendocrine tumor markers

answer

Chromogranin A Neuron specific enolase Synaptophysin

question

Histo stain- cytokeratin

answer

epithelium

question

Histo stain- vimetin

answer

connective tissue

question

Histo stain- desmin

answer

muscle

question

Histo stain- GFAP

answer

neuroglia

question

Histo stain- neurofilaments

answer

neurons

question

Inhibitors of Na+/K+ ATPase

answer

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

question

Cartilage defects

answer

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

question

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

question

Alport syndrome

answer

Type IV collagen defect Nepritis & deafness X-linked recessive

question

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

question

karyotype can be performed on:

answer

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

question

Blotting techniques

answer

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

question

Allelic heterogeneity

answer

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

question

Phenotypic heterogeneity

answer

mutation at SAME gene leads to different phenotype

question

Heteroplasmy

answer

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

question

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

question

Prader-Willi syndrome

answer

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

question

Angelmans syndrome

answer

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

question

X-linked dominant disorders

answer

Hypophosphatemic rickets

question

Mitochondrial inheritance

answer

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

question

ADPKD on which chrom?

answer

Chrom 16 (AD)

question

FAP on which chrom?

answer

Chrom 5 (AD)

question

Hereditary hemorrhagic telangiectasia (osler-weber-rendu synd)

answer

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

question

Huntington's disease on which chrom?

answer

Chrom 4 (AD)

question

NF type 1 on which chrom?

answer

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

question

NF type 2 on which chrom?

answer

Chrom 22 (AD) bilateral acoustic schwanommas, juvenile cataracts

question

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

question

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

question

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

question

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

question

Deaths due to CF

answer

cardiopulmonary complications (pneumonia, bronchiectasis)

question

AR diseases

answer

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

question

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

question

MCC of death in muscular dystrophy

answer

respiratory failure

question

Trinucleotide repeat disorders

answer

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

question

Pregnancy screen in Down Syndrome

answer

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

question

Pregnancy screen in Edwards syndrome (trisomy 18)

answer

Low AFP, B-hCG, estriol normal inhibin A

question

Pregnancy screen in Pataus (trisomy 13)

answer

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

question

Cri-du-chat

answer

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

question

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

question

Microdel. of chrom 22q11

answer

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

question

What vitamins are lacking in breast milk?

answer

D & K

question

Vit A deficiency

answer

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

question

Vit A excess

answer

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

question

Vit B1 (thiamine) is used for:

answer

Pyruvate dehydrogenase alpha-ketoglutarate dehydrogenase Transketolase Branch chain AA dehydrogenase

question

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

question

Vit B2 (riboflavin) deficiency

answer

Cheilosis, corneal vascularization

question

Vit B3 (niacin) is derived from which AA?

answer

TRYPTOPHAN + requires B6 and B2

question

Niacin deficiency (Vit B3)

answer

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

question

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)

question

Vit B6 (pyridoxine) function

answer

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

question

Vit B6 deficiency

answer

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

question

Vit B7 (biotin) function

answer

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

question

Vitamin B9 (folic acid) use

answer

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

question

Vit B9 (folic acid) deficiency

answer

NTDs Macrocytic, megaloblastic anemia

question

Vit B12 (cobalamin) function

answer

cofactor for homocysteine methyltransferase & methylmalonyl-CoA mutase

question

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

question

Regeneration of methionine from homocysteine depends on:

answer

Vit B12, folate

question

Vit E deficiency

answer

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

question

Vitamin K deficiency

answer

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

question

Zinc deficiency

answer

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

question

Kwashiorkor

answer

protein malnutrition edema, anemia, fatty liver

question

Marasmus

answer

energy malnutrition tissue/muscle wasting, loss of subcutaneous fat

question

What pathways happen in mitochondria?

answer

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

question

What pathways happen in cytoplasm?

answer

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

question

What pathways happen in both mito and cytoplasm?

answer

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

question

Arsenic inhibits...

answer

lipoic acid *vomiting, rice water stools, garlic breath

question

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

question

Inhibitor of Complex I

answer

Rotenone

question

Inhibitor of complex III

answer

Antimycin

question

Inhibitor of complex IV

answer

cyanide, CO

question

Inhibitor of complex V (ATPase)

answer

Oligomycin

question

Decouplers of ox-phos

answer

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

question

1 NADH = how many ATP

answer

2.5

question

1 FADH2 = how many ATP

answer

1.5

question

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

answer

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

question

HMP shunt occurs where?

answer

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

question

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)

question

Sucrose =

answer

glucose + fructose

question

Fructose intolerance- deficiency is?

answer

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

question

Deficiency in essential fructosuria

answer

fructokinase benign, asymptomatic fructose appears in blood & urine

question

Deficiency in galactokinase deficiency

answer

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

question

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

question

Lactose =

answer

glucose + galactose

question

sorbitol accumulation causes:

answer

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

question

Essential AA

answer

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

question

Acidic AA

answer

Asp and Glu (negatively charged at body pH)

question

Basic AA

answer

Arg, Lys, His

question

AA with 3 titratable proteins

answer

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

question

Which AA donates NH4+ for urea cycle?

answer

Aspartate

question

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

answer

Arginine

question

Which AA commonly accepts NH3 groups?

answer

Glutamate

question

Which AA are increased in histones?

answer

Arg and Lysine (bind neg charged DNA)

question

Ammonia intoxication

answer

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

question

AA derivatives of phenylalanine

answer

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

question

AA derivatives of tryptophan

answer

Niacin (requires B6) Serotonin (requires BH4)

question

AA derivatives of histidine

answer

histamine (uses B6)

question

AA derivatives of glycine

answer

heme (uses B6)

question

AA derivative of arginine

answer

Creatinine Urea NO

question

AA derivatives of glutamate

answer

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

question

What AA becomes essential in PKU?

answer

tyrosine (remove phenylalanine from diet)

question

What enzyme is deficient in PKU?

answer

phenylalanine hydroxylase tetrahydrobterin cofactor (malignant PKU)

question

What enzyme is deficient in alkaptonuria?

answer

homogentisic acid oxidase (dark tissues, arthralgias)

question

What enzyme is deficient in albinism?

answer

tyrosinase or tyrosine transporter

question

Enzyme deficiencies in homocysteinuria

answer

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

question

Homocysteinuria has genetic heterogeneity with ...

answer

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

question

Cysteinuria

answer

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

question

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

answer

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

question

Hartnup disease leads to:

answer

pellagra (decreased tryptophan uptake)

question

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

answer

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

question

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

answer

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

question

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

answer

Debranching enzyme (alpha-1,6 glucosidase)

question

Enzyme def. in McArdles disease (type V)

answer

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

question

Enzyme deficiency in Fabry's disease

answer

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

question

Enzyme deficiency in Gaucher's disease

answer

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

question

Enzyme deficiency in Neimann-Pick disease

answer

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

question

Enzyme deficiency in Tay-Sachs disease

answer

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

question

Enzyme deficiency in Krabbe's disease

answer

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

question

Enzyme def. in Metachromatic leukodystrophy

answer

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

question

Enzyme def. in Hurlers syndrome

answer

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

question

Enzyme def. in Hunters

answer

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

question

Ketones

answer

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

question

What cells can't use ketones?

answer

RBC & liver cells

question

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)

question

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

question

Mutation in Type IIa hypercholesterolemia

answer

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

question

Mutation in type IV hypertriglyceridemia

answer

AD hepatic overproduction of VLDL *pancreatitis

question

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)

question

Obligate aerobes

answer

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

question

Obligate anaerobes

answer

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

question

Obligate intracellular bugs

answer

Chlamydia, Rickettsia

question

Facultative intracellular bugs

answer

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

question

Urease positive bugs

answer

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

question

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

answer

Salmonella, shigella, Yersinia enterocolitica, EIEC, campylobacter jejuni

question

Bugs with preformed exotoxin

answer

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

question

Bacteria that are lysogenized with phage

answer

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

question

Endotoxin that causes shock in gram neg bacteria

answer

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

question

Dominant flora of skin

answer

Staph epidermidis (also corynebacterium, pseudomonas)

question

Dominant flora of nose

answer

Staph epidermidis, colonized by Staph aureus

question

Dominant flora of mouth

answer

Viridans strep

question

Dominant flora of dental plaque

answer

Strep mutans

question

Dominant flora of colon

answer

Bacteroides fragilis > E. coli

question

Dominant flora of vagina

answer

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

question

Bug that mimics appendicitis

answer

Yersinia enterocolitica (mesenteric adenitis) Campylobacter jejuni

question

MCC of pneumonia in neonates (<4 weeks)

answer

Group B strep E. coli

question

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"

question

MCC of pneumonia in adults 18-40

answer

S. pneumo H. influenza Anaerobes, viruses, mycoplasma

question

MCC of pneumo in the elderly

answer

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

question

Nocosomial pneumonia

answer

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

question

Immunocompromised patients pneumonia

answer

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

question

Aspiration pneumonia

answer

anaerobes (fusobacterium, peptostreptococcus, bacteriodes)

question

Alcoholic pneumonia

answer

S. pneumo, klebsiella, staph

question

CF pneumonia

answer

PSEUDOMONAS S. aureus S. pneumo

question

Postviral pneumonia

answer

Staph H. influenza Strep pneumo

question

Atypical pneumonia

answer

Mycoplasma, Legionella, Chlamydia

question

MCC meningitis in newborns

answer

Group B strep E. coli Listeria

question

MCC meningitis in children (6 mo-6 yr)

answer

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

question

MCC meningitis in 6-60 year olds

answer

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

question

MCC of meningitis in people over 60

answer

S. pneumo Gram neg rods Listeria

question

HIV meningitis

answer

Cryptococcus, CMV, toxoplasmosis, JC virus

question

Bugs infecting unimmunized children

answer

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

question

Tetralogy of Fallot

answer

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

question

Increased lung volumes in COPD

answer

RV, FRC, TLC (FVC is decreased)

question

Renal blood flow (RBF) =

answer

RPF / (1-Hct)

question

FF =

answer

GFR/ RPF

question

Orthostatic hypotension is mediated by which adrenergic receptor?

answer

alpha-1 CONTRACTS SM and prevents orthostatic hypotension

question

alpha-1 activity

answer

contract SM mydriasis stimulate glycogenolysis

question

alpha-2 activity

answer

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

question

beta-1 activity

answer

Increase HR and contractility stim. RENIN release

question

beta-2 activity

answer

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

question

Which 2 RNA viruses replicate in the nucleus?

answer

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

question

Microsatellite instability can lead to?

answer

HNPCC (colorectal cancer)

question

Reactivated CMV in HIV patient causes:

answer

Retinitis Colitis Esophagitis

question

Testes lymph drains to

answer

para-aortic

question

Glans penis lymph drains to:

answer

deep inguinal

question

Stomach lymph drains to:

answer

celiac

question

T cell + selection occurs in:

answer

CORTEX of spleen

question

T cell - selection occurs in:

answer

MEDULLA if spleen

question

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

question

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)

question

HLA DQ2/DQ8

answer

Celiac disease

question

HLA DR2

answer

MS, hay fever, SLE, goodpastures

question

HLA DR3

answer

DM1, Graves disease

question

HLA DR4

answer

RA, DM1

question

HLA DR5

answer

Pernicious anemia, Hashimotos thyroiditis

question

HLA A3

answer

Hemochromatosis

question

Helper T cell produces

answer

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

question

T(reg) cells

answer

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

question

2 major opsinins in bacterial defense

answer

C3b, IgG

question

C1 esterase inhibitor deficiency

answer

Hereditary angioedema (dont use ACE-I!)

question

C3 deficiency

answer

recurrent pyogenic sinus & respiratory tract infxns

question

C5-C9 deficiency

answer

Recurrent Neisseria infections

question

DAF deficiency

answer

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

question

What bugs do antigenic variation?

answer

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

question

Passive immunity

answer

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

question

Active immunity

answer

natural infection vaccines toxoid

question

Live attenuated vaccine

answer

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

question

Inactivated/killed vaccine

answer

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

question

Serum sickness

answer

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

question

Type III HSR

answer

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

question

Type II HSR

answer

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

question

Type IV HSR

answer

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

question

Anti-histone Ab

answer

Drug induced lupus

question

Anti-centromere Ab

answer

Scleroderma (CREST)

question

Anti-Scl 70 Ab

answer

Scleroderma diffuse

question

Antimitochondrial Ab

answer

primary biliary cirrhosis

question

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

answer

Polymyositis, Dermatomyositis

question

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

answer

Sjogrens

question

Anti-U1-RNP Ab

answer

mixed conn tissue disorder

question

anti - smooth muscle Ab

answer

autoimmune hepatitis

question

anti-glutamate decarboxylase Ab

answer

T1 DM

question

c-ANCA

answer

Wegeners

question

p-ANCA

answer

microscopic polyangiitis, Churg-Strauss

question

Hyper IgE syndrome

answer

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

question

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

question

Ataxia telangectasia

answer

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

question

Hyper IgM syndrome

answer

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

question

Wiskott-Aldrich syndrome

answer

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

question

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

question

Chediak Higashi syndrome

answer

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

question

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)

question

Graft vs. host disease

answer

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

question

Coagulative necrosis

answer

heart, liver, kidney

question

Liquefactive necrosis

answer

brain, bacterial abscess, pleural effusion, wet gangrene

question

caseous necrosis

answer

Tb, systemic fungi

question

spider bite?

answer

coagulative necrosis

question

fatty necrosis

answer

peripancreatic fat

question

fibrinoid necrosis

answer

blood vessels

question

gangrenous necrosis

answer

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

question

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

question

Irreversible cell injury

answer

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

question

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

question

Red (hemorrhagic) infarcts

answer

liver, lung, intestines

question

Pale (white) infarcts

answer

heart, kidney, spleen

question

Leukocyte extravasation

answer

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

question

Free radical scavengers

answer

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

question

High ESR

answer

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

question

Low ESR

answer

Sickle cell, polycythemia, CHF

question

Systemic amyloid

answer

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

question

AA (secondary)

answer

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

question

Dialysis related amyloid

answer

B2 microglobulin

question

Heritable amyloid

answer

ATTR (neuro, cardiac) TTR gene mutation

question

Senile

answer

normal TTR slow progression cardiac dysfunction

question

Alzheimers amyloid

answer

B-amyloid APP --> B-amyloid

question

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!

question

Transitional cell carcinoma

answer

Bladder, ureter, renal pelvis

question

Oncogenes with tyrosine kinase prod.

answer

abl (CML), Her2/neu, ret

question

Oncogenes with transcription factor products

answer

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

question

Oncogene with GTPase activity

answer

ras (MAP-kinase), colon cancer

question

Oncogene with anti-apoptotic activity

answer

Bcl2 (follicular and undifferentiated lymphomas)

question

Li-Fraumemi assoc with:

answer

p53 mutation early breast cancer, soft tissue sarcoma

question

HNPCC assoc with:

answer

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

question

VHL syndrome associated with:

answer

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

question

TSG mutations assoc w/ melanoma

answer

p16, BRAF

question

Blooms syndrome

answer

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

question

Sites where metastasis is > primary cancer

answer

LLL BB Lung, Liver, Lymph nodes Brain, Bone

question

Pathways of cancer dissemination

answer

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

question

What blocks uptake of choline into cholinergic nerve terminal?

answer

hemicholinium

question

What blocks uptake of Ach into vesicles?

answer

Vesamicol

question

What blocks release of Ach from nerve terminal?

answer

Botulinum toxin

question

What blocks tyrosine --> DOPA

answer

metyrosine

question

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

answer

reserpine

question

What blocks release of NE from norad nerve term?

answer

guanethidine, bretylium

question

What increases release of NE from norad nerve term?

answer

amphetamines

question

What inhibits reuptakes of NE at the nerve terminal?

answer

Cocaine, TCA, amphetamine

question

Diaphragmatic hiatus's

answer

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

question

Heart sounds: inspiration increases

answer

intensity of right heart sounds

question

Heart sounds: expiration increases

answer

intensity of left heart sounds

question

Heart sounds: handgrip increases

answer

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

question

Heart sounds: valsalva/sudden standing increases

answer

MVP, HCM (decreases venous return)

question

Heart sounds: rapid squatting DECREASES

answer

MVP, HCM (decreases venous return, increases preload)

question

Ejection click

answer

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

question

Midsystolic click

answer

MVP late systolic crescendo murmur

question

Opening snap

answer

MS delayed rumbling late diastolic murmur

question

murmur with bounding pulses, head bobbing

answer

AR high pitch, blowing diastolic decrescendo murmur

question

continuous machine like murmur

answer

PDA

question

congenital long QT synd

answer

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

question

Wolf-parkinson white synd

answer

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

question

Aflutter treatment

answer

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

question

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

question

Aortic arch receptors

answer

responds to increase in BP via VAGUS nerve

question

Carotid sinus receptors

answer

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

question

Coarctation of aorta (preductal) assoc with:

answer

Turners syndrome

question

PDA associated with:

answer

congenital rubella

question

Differential cyanosis associated with:

answer

PDA (late cyanosis in lower extremities)

question

Heart defect associated with 22q11 syndromes

answer

truncus arteriosus, TOF

question

Heart defects assoc w/ down syndrome

answer

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

question

Heart defect assoc w. congenital rubella

answer

septal defects, PDA, pulm artery stenosis

question

Heart defect assoc w/ marfans syndrome

answer

aortic insuff. & dissection

question

Heart defect assoc. w/ infant of diabetic mother

answer

transposition of great vessels

question

Abdominal aortic aneurysm assoc. with

answer

ATHEROSCLEROSIS

question

Thoracic aortic aneurysm assoc with

answer

HTN, cystic medial necrosis (MARFANS), tertiary syphilis

question

MCC of aortic dissection

answer

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

question

What do you use to diagnose Printzmetals angina?

answer

Ergonovine (alpha agonist, 5HT agonist)

question

Normal HTN in elderly

answer

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

question

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)

question

Causes of restrictive CM

answer

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

question

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

question

Most common sites of coronary occlusion

answer

LAD > RCA > circumflex

question

Transmural infarct

answer

ST elevation pathologic Q waves

question

Anterior wall infarct (LAD)

answer

V1-V4

question

Anteroseptal infarct (LAD)

answer

V1-V2

question

Anterolateral infarct (LCX)

answer

V4-V6

question

Lateral wall infarct (LCX)

answer

I, AvL

question

Inferior wall infarct (RCA)

answer

II, III, aVF

question

Posterior wall infarct (PDA)

answer

V6

question

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)

question

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

question

Lofflers syndrome

answer

endomyocardial fibrosis with prominant eosinophilia (restrictive CM)

question

What drugs reduce mortality in CHF?

answer

ACE-inhib B-blockers ARB Spironolactone

question

ANP and BNP respond to:

answer

volume overload/CHF

question

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

question

Tricuspid valve endocarditis

answer

S. aureus, Pseudomonas, Candida

question

MCC of early death in rheumatic fever

answer

MYOCARDITIS!

question

Acute pericarditis

answer

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

question

Cardiac tamponade

answer

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

question

MC adult cardiac primary tumor

answer

myxoma (LA)

question

MC childhood cardiac tumor

answer

Rhabdomyoma assoc. with tuberous sclerosis

question

Major consequence of Kawasaki disease

answer

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

question

Sturge-Weber disease

answer

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

question

Liver angiosarcoma associated with

answer

VINYL CHLORIDE, ARSENIC, thorium dioxide these are malignant tumors

question

Cavernous hemangioma

answer

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

question

Bilateral renal angiomyolipoma is associated with

answer

tuberous sclerosis!

question

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

answer

NEUROPHYSINS

question

Posterior pituitary derived from?

answer

Neuroectoderm (neurohypophysis)

question

Anterior pituitary derived from?

answer

Ectoderm (Rathke's pouch) its the adenohypophysis

question

Anterior pituitary produces

answer

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

question

GLUT distribution

answer

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

question

Can brain use ketones?

answer

Yes, only in starvation!

question

Can RBCs use ketones?

answer

NO!! They have no mitochondria for aerobic metabolism

question

Insulin release is increased by:

answer

hyperglycemia, GH, B2 agonists

question

Insulin release is decreased by:

answer

hypoglycemia, somatostatin, alpha-2 agonists

question

What inhibits glucagon release?

answer

insulin, somatostatin, hyperglycemia

question

Dopamine does what to prolactin?

answer

INHIBITS secretion

question

What factors increase prolactin release?

answer

Estrogen Serotonin ACh Opiates TRH

question

Biceps reflex

answer

C5

question

Triceps reflex

answer

C7

question

Patella reflex

answer

L4

question

Achilles reflex

answer

S1

question

Enzyme deficiency in Tay Sachs

answer

AR Hexosaminidase A (buildup of GM2)

question

Enzyme def in Gauchers

answer

AR Glucocerebrosidase (buildup of glucocerebroside)

question

Enzyme def in Fabrys

answer

XR alpha-galactosidase A (buildup of ceramide trihexoside)

question

Enzyme def in Niemann Pick

answer

AR Sphingomyelinase (buildup of sphingomyelinase)

question

Enzyme def in Metachromic leukodystrophy

answer

AR Arylsulfatase A (buildup of sulfatides)

question

Enzyme def in Krabbes

answer

AR Galactocerebrosidase (galactocerebroside)

question

Enzyme def in Hurlers disease

answer

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

question

Enzyme def in Hunters disease

answer

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

question

CMV binds what cell receptor?

answer

Cellular integrins

question

EBV binds what cell receptor?

answer

CR2 (CD21)

question

HIV binds what cell receptor?

answer

CD4, CXCR4/CCR5

question

Rabies virus binds what cell receptor?

answer

Ach

question

Rhinovirus binds what cell receptor?

answer

ICAM1 (CD54)

question

Somatostatin inhibits:

answer

GH, TSH insulin, glucagon, gastrin

question

Somatostatinoma presents like:

answer

Achlorhydria Cholelithiasis Steatorrhea

question

VIPoma presents like:

answer

Watery diarrhea Hypokalemia Achlorhydria **WDHA syndrome

question

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)

question

Hepatoduodenal ligament connects and contains?

answer

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

question

Gastic banding surgery goes through?

answer

LESSER omentum gastrohepatic & hepatoduodenal ligaments

question

Whats in gastrohepatic ligament?

answer

Gastric arteries

question

Leyers of digestive tract

answer

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

question

Submucosal plexus (Meissners)

answer

controls secretory activity

question

Myenteric plexus (Auerbachs)

answer

controls muscle contractions

question

SMA syndrome

answer

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

question

Abdominal aorta branches

answer

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

question

GI blood supply

answer

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

question

Portosystemic anastamosis

answer

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

question

Hemorrhoids

answer

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

question

Liver zones

answer

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

question

Duadonal associations

answer

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

question

Indirect inguinal hernia

answer

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

question

Direct inguinal hernia

answer

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

question

Whats the leading cause of bowel incarceration?

answer

Femoral hernia

question

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

question

GI hormones

answer

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)

question

Saliva

answer

High HCO3-, K+ hypotonic

question

Which AA stimulate gastrin release?

answer

Phenylalanine, Tryptophan

question

Absorption of Glucose & Galactose

answer

SGLT1 (Na + dependent)

question

Absorption of Fructose

answer

Facilitated diffusion (GLUT5)

question

Fe absorbed in

answer

Duodenum

question

Folate absorbed in

answer

Jejunum

question

B12 absorbed in

answer

Ileum

question

Sucrose is broken down into

answer

fructose and glucose

question

benign salivary gland tumors

answer

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

question

malignant salivary gland tumor

answer

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

question

Achalasia has loss of which plexus?

answer

Myenteric (auerbachs)

question

Achalasia increases risk of:

answer

esophageal SCC

question

GERD increases risk of:

answer

esophageal adenocarcinoma

question

Precursor lesions to SCC of the oral cavity

answer

Leukoplakia Erythroplakia (vascularized, more suggestive of dysplasia)

question

Whipples disease

answer

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

question

Celiac sprue has IgA against

answer

endomysium tissue transglutaminase gliadin (assoc. with dermatitis herpetiformis)

question

Erosions only go into the:

answer

mucosa

question

Ulcers go through the

answer

submucosa

question

Type A gastritis

answer

FUNDUS/BODY autoantibodies to parietal cells pernicious anemia, achlorhydria

question

Type B gastritis

answer

ANTRUM H. pylori increase risk of MALT lymphoma

question

Menetriers disease

answer

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

question

Mets of intestinal type gastric cancer

answer

Sister mary joseph nodule (subcut. periumbilical mets)

question

Mets of diffuse type gastric cancer

answer

Krukenbergs tumor- bilat mets to ovaries

question

Major risk factors for intestinal type gastric cancer

answer

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

question

Duodenal ulcer

answer

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

question

Gastric ulcer

answer

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

question

Rupture of ulcer on lesser curvature of stomach

answer

Bleeding from left gastric artery

question

Perforation of duodenal ulcer (posterior wall)

answer

Bleeding from gastroduodenal artery

question

Chrons is mediated by

answer

TH1

question

Ulcerative colitis is mediated by

answer

TH2

question

"L. sided appendicitis"

answer

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

question

Zenkers diverticulum

answer

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

question

Cause of intussusception and pancreatitis in children

answer

LYMPHOID HYPERPLASIA

question

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

question

Failure of recanalization of small bowel =

answer

duodenal atresia seen in down syndrome

question

What increases risk of malignancy for colon polyps?

answer

VILLOUS histology, larger SIZE increased epithelial dysplasia

question

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

question

Most common locations of colon cancer

answer

RECTOSIGMOID > ascending > descending

question

Ascending colon cancer symptoms

answer

iron deficiency anemia, weight loss, occult blood exophytic mass

question

Descending colon cancer symptoms

answer

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

question

Rectal adenocarcinoma

answer

THIN STOOL

question

HNPCC syndrome

answer

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

question

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

question

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

question

Histologic findings of acute hepatitis

answer

Ballooning degeneration Councilman bodies (eosinophilic)

question

Histological findings in alcoholic hepatitis

answer

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

question

Liver tumor associated with arsenic, polyvinyl chloride

answer

Liver angiosarcoma MALIGNANT

question

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

answer

Hepatocellular carcinoma MALIGNANT

question

Carbon tetrachloride associated with:

answer

Centrilobular necrosis, fatty change of liver

question

Defect in Dubin-Johnson syndrome

answer

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

question

Mutation in Wilsons disease

answer

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

question

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

question

Gallstones

answer

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

question

Factors that increase gallstone formation

answer

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

question

Factors that decrease gallstone formation

answer

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

question

Causes of pancreatitis

answer

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

question

Pancreatic pseudocyst lined by

answer

GRANULATION TISSUE

question

Whats elevated in acute pancreatitis?

answer

amylase lipase (higher specificity)

question

Trousseaus syndrome (pancreatic cancer)

answer

migratory thrombophlebitis, redness and tenderness on palpation of extremities HYPERCOAGULABILITY

question

Courvoisiers sign

answer

obstructive jaundice with palpable, nontender gallbladder

question

What is the charge barrier of the glomerular BM?

answer

heparan sulfate

question

Sites of mets in renal cell carcinoma

answer

LUNG, BONE

question

What cell type does renal cell carcinaoma originate from?

answer

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

question

Paraneoplastic syndromes assoc. with RCC

answer

EPO, ACTH, PTHrP

question

Beckwith Wiedmann Synd

answer

Wilms tumor Neonatal hypoglycemia muscular hemihypertrophy organomegaly

question

Wilms tumor

answer

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

question

WAGR syndrome

answer

Wilms tumor Aniridia GU malformaiton Mental retardation

question

Transitional cell carcinoma assoc.

answer

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

question

Acute pyelonephritis treatment

answer

Ciprofloxacin VUR repair

question

what causes interstitial nephritis

answer

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

question

what causes acute tubular necrosis?

answer

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

question

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

question

Signs of chronic renal failure

answer

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

question

ADPKD is associated with:

answer

berry aneurysms, MVP, benign liver cysts

question

When will you see shrunken kidneys on ultrasound?

answer

Medullary cystic disease (AD) Chronic renal failure

question

Prolonged urinary tract obstruction leads to:

answer

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

question

NTD markers

answer

High AFP High AChE in amniotic fluid

question

Anencephaly markers

answer

high AFP polyhydramnios

question

neurons stain + for

answer

synaptophysin

question

astrocyte marker

answer

GFAP

question

what cells are destroyed in MS?

answer

oligodendrocytes

question

what cells are destroyed in Guillain-barre?

answer

schwann cells

question

unmyelinated nerve fibers

answer

group C

question

Endoneurial inflammation

answer

Guillain-barre syndrome

question

NE

answer

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

question

Dopamine

answer

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

question

5-HT

answer

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

question

ACh

answer

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

question

GABA

answer

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

question

vomiting center

answer

area postrema (dorsal surface of medulla)

question

areas not protected by BBB

answer

OVLT (senses osmolarity) area postrema (emetic center)

question

supraoptic nucleus

answer

ADH

question

paraventricular nucleus

answer

oxytocin

question

Hypothalamus

answer

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

question

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

question

Dopamine in the basal ganglia

answer

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

question

Parkinsons

answer

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

question

Huntingtons

answer

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

question

Treatment for essential tremor

answer

B-blockers, primidone

question

Conduction aphasia

answer

damage to arcuate fasciculus

question

PCO2 in the brain

answer

cerebral vasodilator

question

MCA lesion

answer

Upper limb/face sensory and motor loss Aphasias

question

ACA lesion

answer

lower limb sensory and motor loss urinary incontinence

question

Lateral striate stroke

answer

contralat hemiparesis, hemiplegia

question

ASA lesion

answer

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

question

PICA lesion

answer

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

question

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

question

PCA lesion

answer

contralat hemianopia with MACULAR SPARING

question

AComm lesion

answer

common site of saccular aneurysm visual field defects

question

Pcomm lesion

answer

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

question

rupture of berry aneurysms cause

answer

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

question

Charcot-Bouchard microaneurysm is associated with

answer

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

question

Amyloid angiopathy causes

answer

LOBAR hemorrhage

question

Bright areas on non contrast CT indicate:

answer

hemorrhage

question

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")

question

Lumbar puncture

answer

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

question

Lateral horn found at

answer

T1-L2

question

ALS defect

answer

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

question

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

question

Subacute combined degeneration

answer

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

question

Werdnig hoffman disease

answer

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

question

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

question

Germinoma

answer

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

question

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

question

Presbycusis

answer

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

question

What makes the aqueous humor?

answer

ciliary epithelium

question

CN III damage (oculomotor)

answer

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

question

CN IV damage (trochlear)

answer

eye moves upward contralateral head tilt problems going down stairs

question

CN VI damage (abducens)

answer

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

question

test obliques while...

answer

ADDUCTING eye

question

Miosis controlled by

answer

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

question

Mydriasis controlled by

answer

sympathetic long ciliary nerve to pupillary dilator muscles

question

Marcus Gunn pupil

answer

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

question

Treatment for "wet" macular degeneration

answer

anti-VEGF (ranibizumab, pegaptanib)

question

Hemianopia with macular sparing

answer

PCA infarct

question

Alzheimers treatment

answer

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

question

Pilocytic astrocytoma

answer

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

question

Medulloblastoma

answer

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

question

Ependymoma

answer

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

question

Hemangioblastoma

answer

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

question

Craniopharyngioma

answer

benign childhood brain tumor derived from RATHKEs pouch calcifications common SUPRAtentorial

question

S-100 positive tumors

answer

schwannoma, melanoma, neuroblastoma

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