BBC 2-9 g,h

mhewett's version from 2016-04-23 18:27

2g Transplant Rejection

Question Answer
What are the 4 different types of transplant rejection?hyperacute, acute, chronic, graft vs host
What is the mechanism for hyperacute rejection?preformed antibodies bind to antigen on tissue
What is the mechanism for acute rejection?memory T cells recognize antigen; CD8s destroy graft
What is the mechanism for chronic rejection?antibodies develop over time, and damage graft vasculature
What is the mechanism for graft vs host?T cells in transplanted tissue attack host
What type of hypersensitivity is hyperacute rejection?type II
What type of hypersensitivity is acute rejection?type IV (T cell mediated cytotoxicity)
What type of hypersensitivity is chronic rejection?types II, III
What type of hypersensitivity is graft vs host rejection?type IV
What is the time to onset for hyperacute rejection?minutes to hours
What is the time to onset for acute rejection?days to months
What is the time to onset for chronic rejection?months to years
What is the time to onset for graft vs. host rejection?days to weeks

2g Oncogenes & Tumor Suppressor Genes

Question Answer
Activated oncogenes causeuncontrolled cell division
Mutated/lost tumor suppressor genes allow what?uncontrolled cell division
What is c-myc?oncogene in Burkitt lymphoma
What is c-abl?oncogene in CML (chronic myelogenous leukemia
What is ras?oncogene in colon carcinoma
What is bcl-2?oncogene in certain lymphomas
What is BRCA-1?tumor suppressor gene in breast and ovarian cancer
What is BRCA-2?tumor suppressor gene for breast cancer
What is p53?tumor suppressor gene for breast, colon, lung carcinomas
What is APC?tumor suppressor gene for colorectal cancer
What is WT-1?tumor suppressor gene for Wilm's tumor

2g Tumor Markers

Question Answer
Are tumor markers used for diagnosis or after?after to follow progress (get baseline at time of diagnosis)
What does CEA track?adenocarcinomas like for lung or kidney (carcinoembryonic antigen)
What does high AFP track?hepatoma/hepatocellular carcinoma (tumor marker), multiple gestation, neural tube defects, yolk sac tumor/endodermal sinus disease
What does low AFP track?Down's (alpha-fetoprotien)
What does PSA track?prostate cancer (used for screening as well)
What does acid phosphatase track?prostate cancer
What does alkaline phosphatase track?non-neoplastic disease (used to diagnose too)
What 4 places is alkaline phosphatase normally found in?bone (blastic bone; to track bone cancers and diagnose non-neoplastic bone disease), kidneys (to track renal cell carcinoma), placenta, biliary system (to diagnose non-neoplastic disease of the biliary system)
What is 5'-HIAA associated with?carcinoid
What is CA 19-9 associated with?colon, pancreatic, breast CA
What is CA 125 associated with?ovarian CA
What is CD 25 associated with?hairy cell leukemia, adult T-cell leukemia
What is CD 30 associated with?Hodgkin's disease
What is neuron-specific enolase associated with?small cell lung CA, neuroblastoma
What is B-hCG associated with?pregnancy, gestational trophoblastic disease (hydatidiform mole), choriocarcinoma

2g Metastasis

Question Answer
What is the most common place for breast to metastasize to?bone
What is the second most common place for breast to metastasize to?brain
What is the most common place for lung to metastasize to?brain
What is the second most common place for lung to metastasize to?bone
What is the most common primary site for bone tumors?breast
What is the most common primary site for metastatic brain tumors?lung

2h Genetics-pedigrees, Autosomal Recessive Diseases

Question Answer
What inheritance patterns should you consider first?autosomal and x-linked possibilities first
How does autosomal dominant appear?never skips generations
How does X-linked dominant appear?no male-to-male transmission and never skips generations
How does X-linked recessive appear?no male-to-male transmission
How does autosomal recessive appear?variable
What is the inheritance of hypophosphatemic rickets?x-linked dominant (inherited vit D resistance, bowed legs)
What is the inheritance of incontinentia pigmenti?x-linked dominant (mini-teeth and patchy alopecia)
What is a de novo mutation?new mutation so parents are healthy but 1 of the progeny undergoes a spontaneous mutation and their progeny will carry the mutated gene.
What is mitochondrial inheritance?all mitochondrial genes are inherited from one's mother so these diseases are only transmitted by females but will be to all her children
What is the inheritance of Leber's optic neuropathy?mitochondrial inheritance (bilateral blindness with onset sometime after 15)
What is the typical inheritance patter of metabolic disorders?autosomal recessive
What ethnicity is affected by cystic fibrosis?Caucasians
What gene is affected in cystic fibrosis?CFTR gene, affects chloride movement in epithelial cells
What clinical findings do we see in CF?meconium ileus, viscous mucus, recurrent respiratory infections, high NaCl in sweat and tears (positive sweat test), chronic pancreatitis, cholelithiasis, malnutrition (due to poor bowel function)
What organism is most responsible for CF respiratory infections in 1st 6 months of life?staph aureus
What organism is most responsible for CF respiratory infections >6 mo?pseudomonas aeruginosa
What are the fat soluble vitamins?A, D, E, K
What is phenylketonuria?when you can't metabolize phenylalanine (AA from diet), causing buildup of phenylalanine breakdown products (phenylketones); so can't make melanin and neurotransmitters norepinephrine and dopamine
What do phenylketones cause?neurotoxicity
Why does phenylketonuria cause lighter complexion?due to decreased melanin synthesis
Where do we get tyrosine?ingested and derived from phenylalanine
What is albinism?cannot make melanin
What does a1-antitrypsin do?normally functions to inhibit elastase (enzyme that degrades elastin)
What happens in the body in a1-antitrypsin deficiency?the liver makes it, but can't release it from cells causing liver destruction
What organ or system does active elastase primarily destroy?the lung, causing emphysema
What are 3 glycogen storage diseases?von Gierke disease, Pompe disease, McArdle disease
What happens in glycogen storage disease?inability to utilize glycogen normally
What is glycogen?storage form of glucose
Which 2 glycogen storage diseases result in between meal hypoglycemia?von Gierke disease, Pompe disease
What type of disease is mucopolysaccharidoses?lysosomal storage disease
What can you not metabolize in mucopolysaccharidoses?glycosaminoglycans (aka mucopolysaccharides, aka GAGs)
What is glycosaminoglycans important for?critical components to connective tissue
How do we differentiate between the 3 types of mucopolysaccharidoses?intellectual disability and/or corneal clouding
What are the 3 types of mucopolysaccharidoses?Hurler, Scheie, Hunter (x-linked recessive)
What is gargoyle like facies associated with?mucopolysaccharidoses from accumulation of connective tissue
What type of disease is sphingolipidoses?lysosomal storage disease
What happens in sphingolipidoses?unable to metabolize sphingolipids, molecules typically involved with myelin and the CNS
What do all sphingolipidoses (except Fabry) cause?serious CNS disorder d/t destruction of normal metabolic pathways
What are 6 types of sphingolipidoses?Niemann-Pick, Gaucher's, Krabbe's, Tay-Sachs, metachromatic dystrophy, Fabry (x-linked recessive)