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Genetic, Pulmonary

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resexuwe's version from 2017-07-12 04:16

Genetics

Question Answer
What is the typical incidence of rare things?1-3%
What is the typical incidence with 1 risk factor?10%
What is the typical incidence with 2 risk factors?50%
What is the typical incidence with 3 risk factors?90%
What does Autosomal Dominant usually indicate?Structural problem, 50% chance of passing it on
What does Autosomal Recessive usually indicate?Enzyme deficiency, 1/4 get it, 2/3 carry it
What are the X-linked Recessive deficiencies?Lesch-Nyhan went Hunting For Pirates and Gold Cookies -> LeschNyhan (HGPRT DEF) -> self mutilitation, gout, neuropathy, Hunters (iduronidase def), Fabrys (a-galatosidase Def) -> corneal clouding, attacks babys kidneys, CAT-1 deficiency, G6PD deficiency-> infxnx, hemolytic anemia, CGD-> nadph oxidase deficiency
Where did X-linked Recessive diseases come from?From maternal uncle or grandma
What are the X-linked dominant diseases?Vit D- resistant rickets(kidney leaks phosphorus) -> waddling gait / Pseudohypoparathyroidism->Sausage, digits, osteodystrophy
Where did X-linked Dominant diseases come from?Dad -> Daughter
Where are the mitochondrial diseases?Lebers-> atrophy of optic nerve / Leighs-> subacute necrotizing encephalomyelopathy
Where did Mitochondrial diseases come from?Mom-> all kids
Why do we stop CPR after 20-30 min?The brain has irreversible cell injury
Why do we only have 6hrs to use t-PA?The body has irreversible cell injury
What is Turner's?(X,O)-> web neck, cystic hygroma, shield chest, coarctation of aorta, rib notching
What is Klinefelters?(47xxy) -> tall, gynecomastiia, infertility, low testosterone
What is XXX syndrome?(47,xxx), normal female w/two barr bodies
What is XYY syndrome?(47xyy) tall aggressive male
What is Trisomy 13?Patau's polydactly, high arch palate, pee problem, holoprosencephaly
What is Trisomy 18?Edwards, rocker bottom feet
What is Trisomy 21?Downs simian crease, wide 1st/2nd toes, macroglossia, Mongolian slant of eyes, beushfield spots, retardation
What disease has a Dinucleotide repeat?HNPCC
What diseases have Trinucleotide repeats?Huntingtons, Fragle X, Myotonic Dystrophy, Friedreichs Ataxia
What is Angelmans?Happy puppet sndrome -> ataxia
What is Prader-Willi?Hyperphagia, Hypogonadism, almond shaped eyes
What is Kallmans?Anosmia, small testes
What is Anaplasia?Regress to infantile state
What is Atrophy?Decreased organ or tissue size
What is Desmoplasia?Cell wraps itself w. dense fibrous tissue
What is Dysplasia "carcinoma in situ?"Lose contact inhibition(cells crawl on eachother) no basement membrane invasion
What is hyperplasia?Increased cell number
What is Hypertrophy?Increased cell size
What is Metaplasia?Change from one adult cell type to another
What is Neoplasm?New growth
What is benign?Well circumsized, freely movable maintains capsule, obeys physiology, hurts by compression, slow growing
What is Malignant?Not well circumscribed, fixed, no capsule, doesnt obey physiology, hurts by metastasis, rapidly growing(outgrows blood supply ->hunts for blood -> secretes angiogenin and endostatin to inhibit blood supply of other tumors
What are the fastest killing cancers?Pancreatic cancer, Esophageal cancer
What does adeno- tell you?Glandular
What does Leiomyo- tell you?Smooth muscle
What does Rhabdomyo- tell you?Skeletal muscle
What does Hemangio- tell you?Blood vessel
What does Lipo- tell you?Fat
What does Osteo- tell you?Bone
What does Fibro- tell you?Fibrous tissue
What does -oma tell you?Tumor
what does -carcinoma tell you?Cancer
What does -sarcoma tell you?Connective tissue cancer
What is a Hamartoma?Abnormal growth of normal tissue
What is a Choristoma?Normal tissue in the wrong place
What is the most common anterior mediastinum tumor?Thymoma
What is the most common MIDDLE mediastinum tumor?Pericardial
What is the most common POSTERIOR Mediastinum tumor?Neuro tumors
What organs have the most common occurence of metastasis?BBLLAP Brain(grey-white jxn) / Bone(bone marrow), Lung, Liver(portal vein, hepatic artery), Adrenal gland(renal arteries), Pericardium(coronary arteries)
What cancers have PSAMMoma bodies?Papillary thyroid, Serous ovary, Adenocarcinoma ovary, Meningioma, Mesothelioma
What cancer has CA-125?Ovarian
What cancer has CA-19?Pancreatic
What cancer has S100? Melanoma
What cancer has BRCA?Breast
What cancer has PSA?Prostate
What cancer has CEA?Colon, Pancreatic
What cancer has AFP?Liver, yolk sac
What cancer has Rb?Ewings saecoma, Retinoblastoma
What cancer has Ret?Medullary thyroid cancer
What cancer has Ras?Colon
What cancer has bcl-2?Follicular lymphoma
What cancer has c-myc?Burkitt lymphoma
What cancer has L-myc?Small cell lung carcinoma
What cancer has N-myc?Neuroblastoma-> psuedorosettes
What cancer has Bombesin?Neuroblastoma
What cancer has B-hcg?Choriocarcinoma
What cancer has 5-ht?Carcinoid Syndrome
What has t(9,22)?CML bcr-abl gene
What has t(14,18)?Follicular lymphoma bcl-2 gene
What has t(8,14)?Burkitts Lymphoma c-myc gene
What has t(15,17)?AML M3
What has t(11,22)?Ewings sarcoma
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