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BR-Genetics & Cancer
5/31/06
| Question | Answer |
|---|---|
| MR, flat face, duodenal atresia, septum primum defect, alzheimers, risk of ALL | Trisomy 21, downs; |
| Down's syndrome kids have an increased risk of developing what cancer? | ALL |
| Prenatal findings in Downs | low AFP, high b-hCG, increased nuchal translucency |
| Genetic causes of Downs | meoitic nondisjunction in older mom (47 chrom; 95%); Robertsonian translocation (46 chrom); Down mosaicism (no maternal association) |
| Severe MR, rocker bottom feet, low ears, small jaw (micrognathia), clenched hands, CHD, death by 1yo | Trisomy 18; edwards |
| Severe MR, small eyes, cleft lip/palate, polydactyly, CHD, death by 1yo | Trisomy 13; Patau |
| A common cause of hypogonadism seen in infertility workup is... | Klinefelter's syndrome (XXY); testicular atrophy, tall w/long extremities, gynecomastia, female hair distribution, inactivated X barr body |
| Short, ovarian dysgenesis (streak ovary), webbed neck, coarctation of aorta, 1* amenorrhea, no Barr body | Turner syndrome |
| what is the most common cause of 1* amenorrhea | turner, XO syndrome |
| Phenotypically normal male, very tall with severe acne and antisocial behavior | XYY males; can be seen in increased frequency in prison inmates |
| Duchenne's muscular dystrophy | deleted dystrophin gene d/t frameshift mutation = accelerated muscle breakdown; pseudohypertrophy of calves, cardiac myopathy, Gower's maneuver to get up d/t proximal weakness |
| How do you diagnose muscular dystrophies? | by increased CPK and a muscle biopsy |
| How is Becker's muscular dystrophy different then Duchennes? | the mutation is less severe, since it is a point mutation rather than frameshift; there is more dytrophin (30-80% of normal) |
| What is a pseudohermaphrodite? | a person with disagreement between phenotypic and gonadal sex |
| Female pseudohermaphrodites | XX; ovaries, virulized clitoris, d/t excess exposure to Androgens during early gestation (ex: congenital adrenal hyperplasia or exogenous admin of androgens by mom) |
| Male pseudohermaphrodites | XY; testes; vagina; d/t Androgen insensitivity syndrome (testicular feminization) |
| True Hermaphrodites | 46 XX or 47 XXY; ovary and testes; ambiguous genitalia; very rare |
| Androgen Insensitivity Syndrome | 46 XY; defective androgen receptors form a normal looking female w/blind vagina and no menstruation; testes found in labia majora (remove to prevent malignancy); High levels of Testosterone, Estrogen and LH |
| 5-alpha-reductase Deficiency | inability to convert testosterone to DHT; ambiguous genitals until puberty when increased testosterone causes masculinization; Testosterone/Estrogen levels are normal; LH is normal or elevated...differentiate from androgen insensitivity |
| Cri-du-chat syndrome | 46 XX or XY, 5p- deletion; microcephaly, severe MR, high pitch cry, epicanthal folds, cardiac abnormalities |
| Fragile X | X-linked defect in Methylation and Expression of FMR1 gene; Triplet repeat (CGG)n shows genetic anticipation; MACRO-orchidism; long face/jaw, MR, large ears, Autism |
| 22q11 (CATCH 22) syndromes | Cleft palate, abnml facies, thymic aplasia (T-cell deficiency/DiGeorge), Cardiac defects, Hypocalcemia 2* to parathyroid aplasia; Microdeletion at 22q11; Variable presentation = Velocardiofacial (palate/face/heart) or DiGeorge (thymic, parathyroid, heart) |
| Adult polycystic kidney disease | bilateral, berry aneurysms, APKD1 mutation on chrom 16; a/w liver dz, mitral valve prolapse |
| familial hypercholesterolemia (hyperlipidemia type IIA) | low LDL receptors; cholesterol >300mg/dL; severe atherosclerosis early in life; Tendon Xanthomas; MI before 20yo |
| Marfan's | fibrillin mutation; skeletal (tall/long, hyperextensive joints), cardiovascular (dissecting aortic aneurysm, mitral valve prolapse), ocular (subluxation of lens) |
| Neurofibromatosis type 1 (von Recklinghausen's disease) | 17 letters = chrom 17; cafe au lait, neural tumors, lisch pigmented iris nodules; pheochromocytoma; Inc Tumor Risk |
| Neurofibromatosis type 2 | NF2 on chrom 22; bilateral acoustic neuroma; optic gangliomas, juvenile cataracts |
| Tuberous sclerosis | facial adenoma sebaceum, hypopigmented "ash leaf" spots, cortical/retinal Hamartomas, Seizures, MR, Renal cysts, Cardiac Rhabdomyomas, incomplete penetrance/variable presentation |
| Von Hippel-Lindau disease | 3 words = chrom 3; Hemangioblastomas of retina/cerebellum/medulla; 50% get bilateral renal cell carcinomas & other tumors; VHL tumor suppressor gene deletion |
| Huntington's disease | hunting 4 food = chrom 4 (triplet repeat); choreiform movements, CAUDATE atrophy; low GABA/ACh in brain; depression, progressive dementia, 20-50yo |
| Familial adenomatous polyposis | polyp has 5 letters = chrom 5 (apc gene); all pts need colon removed and family screened; AD |
| Hereditary spherocytosis | spheroid RBCs; Hemolytic anemia; Increased MCHC (lots of Hb in cells); Splenectomy is curable |
| Achondroplasia | AD signaling defect in FGFR3; dwarfism, short limbs, normal head/trunk |
| Autosomal recessive diseases | CF, albinism, a1-antitrypsin deficiency, PKU, thalassemias, sickle cell anemias, glycogen storage dzs, mucopolysaccharidoses (except Hunters), sphingolipidoses (except Fabry's), infant polycystic kidney dz, hemochromatosis |
| What can you give a CF patient to loosen mucus plugs? | N-acetylcysteine |
| X-linked recessive disorders | Fragile X, Duchenne's, hemophilias, Fabry's, G6PD deficiency, Hunter's, ocular albinism, Lesch-Nyhan syndrome, Bruton's agammaglobulinemia, Wiskott-Aldrich |
| Female carriers of X-linked disorders | rarely affected d/t random inactivation of the X chromosome in each cell |
| Trinucleotide repeat diseases | Huntington's, Freidrick's ataxia, Fragile X, Myotonic dystrophy; these diseases may show anticipation (meaning severity increases and age of onset decreases in successive generations) |
| Elevated AFP and low folic acid intake during pregnancy is a/w | neural tube defects |
| When is the highest risk for FAS during gestation? | weeks 3-8; DD, MR, small head, facial abnormalities, limb dislocation, heart/lung fistulas; #1 cause of congenital malformations in US |
| Hyperplasia | inc number of cells; reversible |
| Metaplasia | 1 adult cell type is replaced by another; Reversible; usu 2* to irritation &/or environmental exposure (ex: squamous metaplasia in trachia/bronchi of smokers) |
| Dysplasia | abnormal growth w/loss of cellular orientation, shape and size in comparison to normal tissue maturation; commonly "Preneoplastic"; Reversible |
| Anaplasia | abnormal cells lacking differentiation; like primitive cells of same tissue, often equated w/undifferentiated malignant neoplasms; Tumor Giant Cells may form |
| Neoplasia | clonal proliferation of cells that is uncontrolled and excessive |
| In situ carcinoma | neoplastic cells haven't invaded basement membrane; high nuclear:cytoplasmic ratio w/clumped chromatin; neoplastic cells encompass entire thickness |
| How do cancers become invasive? | they use collagenases and hydrolases to break thru basement membrane and enter lymph or blood vessels |
| What is metastasis? | spreading to distant organ; must survive immune attack; "seeding" is a tumor embolus; "soiling" is in a target organ (liver, lung, bone, brain) |
| Is "Stage" or "Grade" more prognostic of cancer status? | Stage...based on site and size of 1* lesion, spread to local nodes, and presence of metastasis (TNM) |
| Neoplasm a/w Downs syndrome | ALL (we ALL fall DOWN), and AML |
| Neoplasm a/w Xeroderma Pigmentosum | Melanoma, basal and squamous cell carcinoma of skin |
| Neoplasm a/w Chronic Atrophic Gastritis, Pernicious Anemia, Postsurgical Gastric Remnants | Gastric adenocarcinoma |
| Neoplasm a/w Tuberous Sclerosis (facial angiofibroma, seizures, MR) | Astrocytoma, Cardiac Rhabdomyoma |
| Neoplasm a/w Actinic Keratosis | Squamous cell carcinoma |
| Neoplasm a/w Barrett's Esophagitis (chronic GI reflux) | Esophageal adenocarcinoma |
| Neoplasm a/w Plummer-Vinson syndrome (atrophic glossitis, esophageal webs, anemia, d/t iron deficiency) | Esophageal adenocarcinoma |
| Neoplasm a/w Cirrhosis (alcoholic, HBV, HCV) | Hepatocellular carcinoma |
| Neoplasm a/w Ulcerative Colitis | colonic adenocarcinoma |
| Neoplasm a/w Paget's disease of bone | 2* osteosarcoma and fibrosarcoma |
| Neoplasm a/w Immunodeficiency states | malignant lymphomas |
| Neoplasm a/w AIDS | Aggressive malignant lymphomas (NON-Hodgkins), Kaposi's sarcoma |
| Neoplasm a/w Autoimmune diseases (ex: Hashimoto's thryroiditis, Myesthenia gravis) | Benign and Malignant Thymomas |
| Neoplasm a/w Acanthosis nicrigans (hyperpigmentation & epidermal thickening) | Visceral malignancy (lung, stomach, breast, uterus) |
| Neoplasm a/w Dysplastic Nevus | Malignant melanoma |
| Mass effect of tumor | causes tissue lump or tumor |
| Non healing ulcer d/t tumor | destruction of epithelial surfaces (ex: stomach, colon, mouth, bronchus) |
| Hemorrhage d/t tumor | d/t ulcerated area or eroded vessel |
| Pain a/w tumor | occurs in any site w/sensory nerve endings; brain tumors are PAINLESS, as is cancer of head of pancreas |
| Seizures d/t tumors | d/t tumor mass in brain |
| Obstruction d/t tumors | of bronchus = pneumonia; of biliary tree = jaundice; of left colon = constipation |
| Perforation d/t tumor | of ulcer in viscera = peritonitis/free air |
| Bone destruction d/t tumor causes | pathologic fractures, collapse of bone |
| Inflammation d/t tumors | of serosal surfaces cause pleural effusion, pericardial effusion and ascities |
| Space-occupying tumors | a/w raised intracranial pressure in the brain and Anemia d/t replacement of bone marrow |
| Localized loss of sensory or motor function d/t tumors | from compression or destruction of nerve (ex: recurrent laryngeal a/w hoarseness) |
| Edema d/t tumors | from lymphatic or venous obstruction |
| Glioblastoma multiforme | mc 1* brain tumor; grave Px; cerebral hemispheres; necrosis and hemorrhage |
| Meningioma | 2nd mc 1* brain tumor; convexities/parasagittal regions; from arachnoid cells; resectable; "Spindle cells, Whorled Pattern" and Psammoma bodies (laminated calcifications) |
| Schwannoma | a/w neurofibromatosis type 2; usu CN VIII; "Antoni A (compact) or Antoni B (loose) pattern" |
| Oligodendroglioma | "Fried Egg" cells w/round nuclei and clear cytoplasm; rare, slow growing; Frontal lobes; calcified |
| Pituitary adenoma | usu prolactin secreting; Bitemporal Hemianopia and hypopituitarism; d/t remnant of Rathke's pouch |
| Pilocytic Astrocytoma | Diffuse glioma; "Rosenthal Fibers;" kids, posterior fossa; benign/good Px |
| Medulloblastoma | highly malignant cerebellar tumor in kids; "Rosettes" radiosensitive; Hydrocephalus (4th ventricle compression); (primitive neuroectodermal tumor; PNET) |
| Ependymoma | tumor found within 4th ventricle; Hydrocephalus; "Rosettes" |
| Hemangioblastoma | "Foamy Cells" and Highly Vascular; Produce EPO & 2* Polycythemia; Cerebellar; a/w von Hippel-Lindau when found w/retinal angiomas |
| Craniopharyngioma | mc benign supratentorial kids tumor; bitemporal hemianopsia; remnant of Rathke's pouch; calcification |
Created by:
bscaryp