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93 Cards in this Set
- Front
- Back
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what is the typical incidence of rare things?
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1-3%
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what is the typical incidence of 1 risk factor?
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10%
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what is the typical incidence of 2 risk factor?
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50%
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what is the typical incidence of 3 risk factor?
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90%
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what does autosomal dominant usually indicate?
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structural problem, 50% chance of passing it on
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what does autosomal recessive usually indicate?
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enzyme deficiency, 1/4 get it, 2/3 carry it
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what are the x-linked recessive deficiencies?
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"Lesch went Hunting for Pirates and Gold Cookies"
leschNyhan hunters fabry's PDH G6PD Chronic Granulomatous Dz. |
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leschNyhan
deficiency presentation (3) |
HGPRT deficiency
self mutilation, gout, neuropathy |
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hunters
enzyme deficiency |
iduronidase deficiency
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fabry's
deficiency presentation (2) |
alpha galactosidase deficiency
corneal clouding, attack's baby's kidneys |
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G6PD
presentation (2) |
infxns, hemolytic anemia
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Chronic Granulomatous Dz.
deficiency |
NADPH oxidase deficiency
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where did x-linked recessive diseases come from?
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from maternal uncle or grand pa
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what are the x-linked dominant diseases
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Na-resistant rickets (vit D ?)
pseudohypoparathyroidism: |
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where did x-linked dominant diseases come from?
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dad to daughter
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what are the 2 mitochondrial diseases?
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leber's
leigh's |
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Na-resistant rickets
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kidney leaks phosphorous
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pseudohypoparathyroidism (2)
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sausage digits
osteodystrophy |
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leber's
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atrophy of optic nerve
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leigh's
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subacute necrotizing encephalomyelopathy
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where did mitochondrial disease come from?
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mom to all kids
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why do we stop CPR after 20-30 minutes?
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the brain has irreversible cell injury
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why do we only have 6 hrs to use t-PA
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the body has irreversible cell injury
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what is turner's
karyotype presentation: (5) |
(XO)
web neck, cystic hygroma, sheild chest coarctation of aorta, rib notching |
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what is klinefelter's
karyotype presentation: (4) |
(47,XXY)
tall, gynecomastia, infertility, decreased testosterone |
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what is XXX syndrome?
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(47,XXX)
normal female with 2 barr bodies |
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what is XYY syndrome?
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(47,XYY): tall, aggressive male
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what is trisomy 13?
presentation (4) |
patau's
polydactaly, high arch palete, pee problem, holoprosencephaly |
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what is trisomy 18?
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edward's, rocker bottom feet
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what is trisomy 21?
presentation (5) hands, feet, tongue, eyes, intelligence |
down's,
simian crease, wide 1st/2nd toes, macroglossia, mongolian slant of eyes, brushfield spots, retardation |
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what disease has a dinuclotide repeat?
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HNPCC
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what 4 diseases has a trinuclotide repeat?
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huntington's, fragile x, myotonic dystrophy, friedreich's ataxia
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what is angelman's?
presentation |
happy puppet syndrome
ataxia |
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prader-willi
presentation (3) |
hyperphagia, hypogonadism, almond shaped eyes
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kallman's
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anosmia, small testes
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anaplasia
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regress to infantile state
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atrophy
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decrease to organ or tissue size
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desmoplasia
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cell wraps itself with dense fibrous tissue
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dysplasia "carcinoma in situ"
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lose contact inhibition (cell crawl on each other)
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hyperplasia
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increase cell number
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hyperthropy
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increased cell size
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metaplasia
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change from one adult cell type to another
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neoplasm
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new growth
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benign Tumors
describe the ff: shape mobility capsule physiology pain growth |
well circumscribed, freely movable, maintains capsule, obeys physiology, hurts by compression, slow growing
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malignant Tumors
describe the ff: shape mobility capsule physiology pain growth |
not well circumscribed, fixed no capsule, doesn't obey physiology, hurts by metastasis, rapidly growing ( out grows blood supply⇒hunts for blood⇒ secretes angiogenin and endostatin to inhibit blood supply of other tumors)
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what are the 2 fastest killing cancers?
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pancreatic cancer, esophageal cancer
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adeno-
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glandular
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leiomyo-
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smooth muscle
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rhabdomyo-
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skeletal muscle
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hemangio-
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blood vessel
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lipo-
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fat
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osteo-
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bone
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fibro-
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fibrous tissue
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-oma
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tumor
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-carcinoma
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cancer
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-sarcoma
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connective tissue cancer
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hamartoma
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abnormal growth of normal tissue
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choristoma
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normal tissue at the wrong place
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most common anterior mediastinum tumor
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thymoma
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most common middle mediastinum tumor
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pericardial
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most common posterior mediastinal tumor
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neuro tumors
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what organs have the most common occurance of metastasis?
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"BBLLAP"
brain (grey-white jxn) bone (bone marrow) Lung liver (portal vein, hepatic artery) adrenal (renal arteries) pericardium (coronary arteries) |
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what cancers have psammoma bodies?
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Papillary (thyroid)
Serous (ovary) Adenocarcinoma (ovary) Meningioma Mesothelioma |
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what cancer has CA-125?
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ovarian
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what cancer has CA-19?
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pancreatic
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what cancer has S-100?
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melanoma
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what cancer has BRCA?
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breast
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what cancer has PSA?
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prostate
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what 2 cancer has CEA?
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colon, pancreatic
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what 2 cancers has AFP?
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liver, yolk sac
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what 2 cancers has Rb?
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ewing's sarcoma, retinoblastoma
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what cancer has ret?
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medullary thyroid cancer
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what cancer has ras?
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colon
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what cancer has bcl-2?
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follicular lymphoma
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what cancer has c-myc?
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burkitt's lymphoma
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what cancer has l-myc?
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small cell lung carcinoma
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what cancer has N-myc?
biopsy |
neuroblastoma ⇒pseudorosettes
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what cancer has bombesin?
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neuroblastoma
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what cancer has beta hcg?
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choriocarcinoma
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what cancer has 5HT?
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carcinoid syndrome
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what has t(9,22)?
gene |
CML (bcr-abl gene)
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what has t(14,18)?
gene |
follicular lymphoma (bcl-2-gene)
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what has t(8,14)?
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burkitt's lymphoma
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what has t(15,17)?
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AML M3
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what has t(11,22)?
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ewing sarcoma
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what has HLA A3, A6?
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hemochomatosis
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what has HLA B5?
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behcet's
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what has HLA B13?
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psoriasis without arthritis
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what has HLA B27?
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psoriasis, ankylosing spondylitis, reiter's syndrome
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what has HLA DR2?
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goodpasture's, MS
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what has HLA DR3?
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celiac sprue
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what has HLA DR 4?
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pemphigus vulgaris
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what has HLA DR5?
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pernicious anemia
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