Patho Ch 1

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Cytoplasm/protoplasm
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colourless, viscous liquid containing water, nutrients, ions, dissolved gases and waste products: where the cellular work takes place.
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Organelles
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internal cellular structures that perform the work that maintains the cell’s life.
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Nucleus
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control centre of the cell, contains all the genetic information and is surrounded by a double membrane.
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Cell membrane
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the semipermeable membrane containing the cell and its components.
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Lipid bilayer
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fatty, double membrane that makes up the cell membrane.
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Selectively permeable
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Ability of the cell to allow passge of some substances in and out of the membrane, allows the cell to maintain homeostasis.
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Enzymes
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Proteins that facilitate chemical reactions in cells.
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Glucose
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Sugar molecule that provides energy.
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Electrolytes
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Chemicals that are charged when dissolved in water, conductors.
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Diffusion
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The movement of solutes from an area of higher concentration to an area of lower concentration.
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Osmosis
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The movement of a solvent or water through a semipermeable membrane from an area of low solute concentration to an area of high solute concentration. (solvent=liquid, solute= dissolved particles)
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Osmotic pressure
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The tendency of water to move by osmosis.
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Lysis
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cell bursting
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Crenation
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cell shrinking
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Facilitated diffusion
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The movement of substances from an area of lower concentration to an area of higher concentration with the assistance of a carrier molecule.
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Active transport
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The movement of a substance from an area of lower concentration to an area of higher concentration, against a concentration gradient.
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Endocytosis
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The process of bringing a substance into a cell.
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Phagocytosis
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Cell eating, solid particles.
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Pinocytosis
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Cell drinking.
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Exocytosis
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The release of materials from the cell.
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Proliferation
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The regulated process by which cells divide and reproduce.
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Mitosis
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Cell division, cell divides into two seperate cells, 4 phases, prophase, metaphase, anaphase and telophase.
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Prophase
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Chromomsomes condense and the nuclear membrane disintegrates.
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Metaphase
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The spindle fibres attach to centromeres and the chromosomes align.
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Anaphase
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The chromosomes seperate and the sister chromatids move to opposite poles.
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Telophase
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The sister chromatids reach opposite poles adn the nuclear envelope begins to reform.
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Meiosis
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Cell division that occurs only in sperm and ova, reduces the chromosome number by half.
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Differentiation
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The process by which cell become specialised in terms of cell type, structure, function and cell cycle.
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Adaption
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Cells attempt to prevent their own death from environmental changes.
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Atrophy
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Cells decrease in size and number because of decreased work demands on the cell, causes of atrophy include, denervation, endocrine hypofunction, inadequate nutrition and ischemia.
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Hypertrophy
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Cells increase in size in an attempt to meet increased work demand, commonly seen in cardiac and skeletal muscle.
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Hyperplasia
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An increase in the number of cells in an organ or tissue, for example, menstruation, liver regeneration, wound healing, and skin warts.
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Metaplasia
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The process in which one adult cell is replaced by another cell type, usually initiated by chronic irritation and inflammation. Metaplastic changes can be seen in ciliary changes that occur in the respiratory tract because of chronic smoking or vitamin A deficiency. Does not lead to cancerous changes, however if the stimulus is not removed, concerous changes will likely occur.
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Dysplasia
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Cells mutate into cells of a different size, shape, and appearence. Is reversible by removing the trigger, often precancerous cells. Reproductive and respiratory tracts are common sites because of their increased exposure to carcinogens.
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Programmed cell death
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The process of eliminating unwanted dead cells. Cell death from an irreversible cell injury. Cell injury can occur because of physical agents (for example, mechanical forces, extreme temperature), chemical injury (for example, pollution, lead, and drugs), radiation, biologic agents (for example, viruses, bacteria, and parasites), and nutrirional imbalances.
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Apoptosis
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Normal and controlled cell death, cells condense or shrink.
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Necrosis
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Cell death following injury, disease or failure of blood supply, cells swell and burst.
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Ischemia
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Decreased blood flow to tissues or an organ, causing a shortage of oxygen and nutrients needed cellular metabolism.
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Liquefaction necrosis
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Occurs when caustic enzymes dissolve and liquefy necrotic cells, most common site is the brain because it contains a plentiful supply of these enzymes.
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Caseous necrosis
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The necrotic cells disintegrate, but the cellular debris remains in the are for months or years, cottage cheese-like appearance. Most commonly pulmonary tuberculosis.
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Fat necrosis
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Lipase enzymes break downintracellular triglycerides into free fatty acids, which then combine with Mg, Na, and Ca and form soaps. Opaque, chalky appearance.
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Coagulative necrosis
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Results from an interruption in blood flow, the pH drops, acidosis, denaturing the cells enzymes. Most often occurs in the kidneys, heart, and adrenal glands.
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Gangrene
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A from of coagulative necrosis, combination of impaired blood flow and bacterial invasion. Usually occurs in the legs, because of arteriosclerosis (arteries hardening) or in the gastrointenstinal tract.
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Dry gangrene
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Bacterial presence is minimal and the skin has a dry, dark brown, or black appearance.
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Wet gangrene
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Occurs with liquefaction necrosis, extensive damage by bacteria and white blood cells produces a liquid wound. Occurs in the extremeties and internal organs.
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Gas gangrene
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Develops because of presence of Clostridium (an anaerobic bacterium). Potentially fatal. Bacerium releases toxins that destroy surrounding cells, infection spreads rapidly. The gas bubbles underneath the skin in bubbles.
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Free radicals
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Injurious, unstable agents that can cause cell death, unstable atom with odd number of electrons. Free radicals have been linked to cancer and aging.
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Neoplasm
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Tumor. When cellular proliferation goes wrong. A cellular growth does not respond to normal regulatory processes, usually because of mutation.
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Cancer
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The disease state associated with a neoplasm/tumor. Rapid uncontrolled proliferation and a loss of differentiation.
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Carcinogenesis
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The process by which cancer develops. Three phases, initiation, promotion, and progression.
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Initiation
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Invovles the exposure of the cell to the substance or event that causes DNA damage or mutation. Chemical, viruses, or radiation. The mutation can become permanent and hence be passed on to future generations.
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Promotion
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Mutated cells are exposed to factors that promote growth. Nicotin, hormones, or nitrates. Can be reversible. May occur just after initiation or years later.
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Progression
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Tumor invades, metastasizes (spreads), and becomes drug resistant. Permanent or irreversible.
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Oncogenes
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A gene that has the potential to cause cancer. Activate cell division and embryonic development.
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Anaplasia
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The of cell differentiation that occurs with cancer.
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Benign
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Type of neoplasm. Less anaplastic, differentiated tumors that are producing more rapidly than normal cells. Cause fewer problems. Benign cells are often encapsulated and unable to metatasize.
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Malignant
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Type of neoplasm. More anaplastic, undifferentiated, nonfunctioning cells that are reproducing rapidly. Often penetrate surrounding tissue and spread to secondary sites.
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Cancer: clinical manifestations
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Anemia (red blood cell deficiency), due to blood borne cancers, chronic bleeding, malnutrition, chemotherapy, or radiation. Cachexia (wasting, dramatic weight loss and muscle atrophy), due to malnutrition. Fatigue, due to parasitic nature of tumor, anemia, malnutrition, stress, anxiety, chemotherapy. Infection increased risk due to bone marrow depression, chemotherapy and stress. leukopenia (decrease in white blood cells/leukocytes) side effect of radiation and chemotherapy. Thrombocytopenia (low platelet levels) side effect of radiation and chemotherapy. Pain, due to tissue pressure, obstructions, tissue invasion, visceral stretching, tissue destruction and inflammation.
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Cancer: diagnosis
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Specific to type of cancer. Diagnostic procedures may vary depending on type cancer. Purpose is to identify and establish cytology of cancer cells, and to determine the primary site and secondary sites, if any. Screening tests include x-rays, radioisotope scanning, computed topography scans, endoscopies, ultrasonography, magnetic resonance imaging, positron emission tomography scanning, biopsies, and blood tests. Blood tests may include tumor markers, (substances secreted by the cancer cells), for specific cancers.
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Cancer: diagnosis Grading
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Maligant cancer cells are classified on the degree of differentation on a scale of 1 to 4, in order of clinical severity. For example, grade 1 are well differentiated, so less likely to cause problems because they are more like the original tissue. Grade 4 are undifferentiated, they are less like the original tissue are more probable to cause problems.
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Cancer: diagnosis Staging
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TNM staging system, evaluates tumor size, nodal involvement, and metatastic progress.
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Cancer: treatment
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Chemotherapy Radiation Surgery Targeted therapy Hormone therapy Immunotherapy Hyperthermia Stem cell transplants Photodynamic therapy Laser treatment Alternative therapies Goal of treatment may be curative, palliative, or prophylactic.
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Curative
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eradicate the disease
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Palliative
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treat symptoms to increase comfort
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Prophylactic
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prevent the disease
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Chemotherapy
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Involves the administration of a wide range of medications that destroy replicating tumor cells
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Radiation
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The use of ionising radiation to cause cancercellular mutation and interrupt the tumor’s blood supply. May be administered internally or externally.
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Targeted therapy
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Uses drugs to identify and attack cancer cells.
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Hormone therapy
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Administering specific hormones thst inhibit the growth of cancer cells.
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Immunotherapy
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Administering specific immune agents (interleukins, interferons) to alter the host’s biological response to cancer.
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Hyperthermia
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Delivers heat to a small area of cells or part of the body to destroy tumor cells. Can increase the effectiveness of radiation, immunotherapy, and chemotherapy.
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Stem cell transplants
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May include peripheral blood, bone marrow, or cord blood. Used to restore stem cells in bone marrow destroyed by disease or treatment.
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Photodynamic therapy
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Specific drugs are combined with light to kill cancer cells.
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Laser
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Used to shrink or destroy tumor.
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Prognosis
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Patient’s liklehood for surviving the cancer. Dependent on the cancer’s ability to metstasize.
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Remission
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Period when the cancer has responded to treatment and is under control.
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Genetics
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The study of heredity.
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Congenital defects
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Birth defects. Usually develop during the prenatal period and are apparent at birth or shortly after.
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Genes
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Carry cellular instruction and information.
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DNA deoxyribonucleic acid
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Long double-stranded chain of nucleotides.
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Nucleotides
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Five-carbon sugar, a phosphate, and one of four nitrogen bases (ctyosine, thymine, guanine, adenine).
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Autosomes
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22 sets of paired chromosomes.
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Karyotype
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A representation of a person’s individual set of chromosomes.
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Phenotype
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Physical expression of genes.
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Allele
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One gene with many variants.
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Homozygous
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A person who has identical alleles of each chromosome.
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Heterozygous
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A person who has different alleles of each chromosome.
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Dominant
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More pwerful allele that is expressed.
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Recessive
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Less influential allele.
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Klinefelter’s Syndrome
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Example of X-linked disorder.
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Autosomal dominant disorder
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Single gene mutations that are passed from an effected parent to an offspring regardless of sex. Occur with both homozygous and heterozygous allele pairs. Homozygous pair will have a more severe expression of the disorder. Examples include Marfan sydrome and nuerofibromatosis.
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Marfan Syndrome
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Autosomal dominant disorder. Degenerative, generalised disorder of the connective tissue.
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Marfan syndrome: pathophysiology
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Condition results from a single gene mutation on chromosome 15, that leads to elastin and collagen defects.
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Marfan syndrome: clinical manifestations
Marfan syndrome: clinical manifestations
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Increased height. Long extremeties. Arachnodactyly, long spider-like fingers. Sternum defects, funnel chest or pigeon breast. Chest asymmetry. Spine deformaties, scoliosis or kyphosis. Flat feet. Hypotonia and increased joint flexibility. Highly arched palate, crowded teeth, small lower jaw. Thin, narrow face. Nearsightedness and lens displacement. Valvular defects. Coarctation of the aorta.
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Marfan syndrome: complications
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Weak joints and ligaments that are prone to injury. Cataracts. Retinal detachment. Severe mitral regurgitation. Spontaneous pneumothorax (collapsed lung). Inguinal hernia.
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Marfan syndrome: diagnosis/ diagnostics
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History and physical examination. Skin biopsy, would be positive for fibrillin. X-rays, would confirm skeletal abnormalities. Echocardiogram, would revel cardiac abnormality. DNA anlaysis for the gene.
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Marfan syndrom: treatment
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Focuses on relieving symptoms. Surgical repair of aneurysms and valvular defects. Surgical correction of occular deformities. Steroid and sex hormone therapy to aid in closure of long bones. Beta-adrenergic blockers to limit complications from cardiac deformaties. Bracing and physical therapy for mild scoliosis, and surgical correction for severe cases.
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Neurofibromatosis
Neurofibromatosis
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Autosomal dominant disorder. An inherited condition involving neurogenic ( nervous system) tumors that arise from Schwann cells and other similiar cells, 30% to 50% cases do occur spontaneously. 2 types. There is an increased incidence of learning disabilities and seizure disorders. Ocular problems, scoliosis, and bone defects.
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Type 1 Neurofibromatosis
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Caused by a mutation on chromosome 17. Cutaneous legions that may include raised lumps, cafe au lait spots, and freckling.
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Type 2 Neurofibromatosis
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Caused by a mutation on chromosome 22. Involves bilateral acoustic (cranial nerve 8) tumors that cause hearing loss.
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Autosomal recessive disorder
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Single gene mutation passed from an affected parent to an offspring regardless of sex, occur only in homozygous allele pairs. Those with heterozygous pairs are carriers only and display no symptoms. Early onset, e.g. Tay-Sachs disease and phenylketonuria (PKU).
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Phenylketonuria PKU
Phenylketonuria PKU
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Autosomal recessive disorder. Mutation on chromosome 12 that creates a deficiency of the enzyme, phenlalanine hydroxylase. Leads to central nervous system damage through toxic levels of phenylalanine in the blood. If untreated leads to severe intellectual diability. Newborns are routinely screened for PKU because symptoms develop slowly and can go undetected.
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PKU Phenylketonuria, clinical manifestations
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Failure to meet milestones Microcephaly Progressive neurological decline Seizures Hyperactivity Electrocardiograph (EKG) abnormalities Learning disability Mousy-smelling urine, skin, hair, and sweat Eczema
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PKU Phenylketonuria, treatment
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Consumption of a diet low in phenylalanine Special infant formulas. Avoid proteins Minimise starches
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Tay-Sachs disease
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Autosomal recessive disorder Caused by defective gene on chromosome 15, effects those of Jewish decent. 1 in 27 is a carrier. Deficiency or absence hexosaminidase A, an enzyme that metabolises certain lipids called gangliosides. Lipids accumulate in lysosomes of nerve cells and progressively destroy and demyelinate nerve cells. Progressive motor and nerve deterioration, causing death by 5 years old.
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Tay-Sachs disease, clinical manifestations
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Occur at 3 to 10 months Exaggerated Moro reflex (startle reflex) at birth Apathy to loud sounds by 3 to 6 months old Inability to sit up, lift head, or grasp objects Difficulty turning over Progressive vision loss Deafness and blindness Seizure activity Paralysis Spasticity Pneumonia
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Tay-Sachs disease, treatment
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Diagnosed by history and physical, deficient serum and amniotic hexosaminidase A levels. No cure. Treatments are supportive. Parenteral nutrition (tube feeding) pulmonary hygiene (suctioning and postural drainage) Skin care Laxatives Psychological counseling
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Sex-Linked disorders
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On the sex chromosomes. Most are X-linked. Females are frequently carriers of the trait (2 x chromosomes) May be recessive or dominant. E.G. Fragile X syndrome
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Fragile X syndrome
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X-linked dominant disorder Failure to express a protein necessary for neural tube development.
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Fragile X syndrome, clinical manifestations
Fragile X syndrome, clinical manifestations
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Intellectual, learning and behavioural disabilities Prominent jaw and forehead Long, narrow face with long or large ears Connective tissue abnormalities Large testes Hyperactivity Seizures Speech and language delays Tendency to avoid eye contact
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Fragile X syndrome, treatment
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Diagnosis, positive genetic test No cure Control of individual symptoms Genetic counseling for those with a positive family history Behavioural and psychological support Physical, speech and occupational therapy
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Multifactorial disorders
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Interaction between genes and environment factors May be present at birth, cleft palate Expressed later in life, hypertension
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Envirinmental factors
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Teratogens i.e. infections, chemicals, or radiation
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Cleft lip and cleft palate
Cleft lip and cleft palate
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May occur together or seperately Develop in 2nd month of pregnancy Facial structures do not fuse properly Maternal smoking and diabetes are risk factors More prevalent in Native Americans and Asian Americans May be unilateral or bilateral deformities
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Cleft lip/palate, clinical manifestations
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Obvious at birth can be detected with a prenatal ultrasound
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Cleft lip/palate, treatment
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Surgery Speech therapy and feeding devices
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Chromosomal disorders
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Result from alteration in chromosomal duplication or number. Environmental influence in utero ( maternal age, drugs, infections) Trisomy 21 Monosomy X Polysomy X
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Trisomy X/ Down syndrome
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Sponateous chromosomal mutation 3 copies of chromosome 21 Risk increases with greater parental age and environmental teratogen exposure
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Trisomy X/ Down syndrome, clinical manifestations
Trisomy X/ Down syndrome, clinical manifestations
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Hypotonia Distinctive facial features (low nasal bridge, epicanthic folds, protruding tongue, low-set ears, small open mouth) Single crease on the palm, simian crease White spots on the iris Intellectual disability Congenital heart defects Strabismus and cataracts Poorly developed genetalia Delayed puberty Early death can occur due to cardiac and pulmonary complications Increased susceptability to leukemia and infections Four-dimensional ultrasounds, amniocentesis, and serum hormone levels for detection
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Trisomy X/ Down syndrome, treatment
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No cure Symptom and complication management
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Monosomy X/ Turner’s syndrome
Monosomy X/ Turner's syndrome
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Deletion of part or all of an X chromosome Effects only females Gonadal streaks instead of ovaries Do not menstruate
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Monosmy X/ Turner’s syndrome, clinical manifestations
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Short stature Lymphadema of the hands and feet Braod chest with widely spaced nipples Low-set ears Small lower jaw Drooping eyelids Increased weight Small fingernails Webbing of the neck Coarctation of the aorta Horseshoe kidney Visual disturbances Ear infections Hearing loss Reduced bone mass, which increases the risk for fractures
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Monosomy X/ Turner’s syndrome, treatment
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Female sex hormones to promote development of secondary sex characteristics and skeletal growth. Growth hormones. Identification is often delayed until late childhood early adolescence, if clinical presentation is more subtle. Chromosomal analysis can confirm Early treatment minimises problems and complications.
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Polysomy X/ Klinefelter’s syndrome
Polysomy X/ Klinefelter's syndrome
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Extra X chromosome XXY chromosome Male Apparent at puberty when testicles fail to mature Infertile
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Polysomy X/ Klinefelter’s syndrome, clinical manifestations
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Small penis, prostrate gland, and testicles Sparse facial and body hair Sexual dysfunction Gynecomastia (breasts) Long legs with a short, obese trunk Tall stature Behavioural problems Learning disabilities Increased incidence of pulmonary disease and varicose veins. Can develop osteoporosis and breast cancer.
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Polysomy X/ Klinefelter’s syndrome, treatment
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Hormone levels and chromosomal testing, diagnosis Male hormone replacement to promote secondary sex characteristics. Mastectomy in cases of gynecomastia

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