Term
|
Definition
| CML - ABL protoncogene with BCR (break cluster region) |
|
|
Term
|
Definition
|
|
Term
|
Definition
| favorable prognosis in ALL |
|
|
Term
| activation of TAX gene, inhibits tp53 suppressor gene |
|
Definition
| Adult T-cell Luekemia (assoc with HTLV-1) |
|
|
Term
| Chronic Granulomatous Disease |
|
Definition
| lack of NADPH oxidase - neutrophils |
|
|
Term
|
Definition
| secreted by macs- acute inflamm- fever |
|
|
Term
|
Definition
| secreted by Th cells - stimulates T cells (helper and cytotoxic) |
|
|
Term
|
Definition
| secreted by activated T cells- stimulates bone marrow growth |
|
|
Term
|
Definition
| secreted by Th2 - stimulates IgE production |
|
|
Term
|
Definition
| Secreted by Th2 - stimulates IgA, activates eoso |
|
|
Term
|
Definition
| secreted by Th and macs - stim acute phase reactants and Ig (stim Osteoclast activating factor) |
|
|
Term
|
Definition
| secreted by macs - chemotaxis of neuts |
|
|
Term
|
Definition
| secreted by regTells - inhibits activated Tcells |
|
|
Term
|
Definition
| secreted by B cells and macs - activates NK and TH1 cells |
|
|
Term
|
Definition
| secreted by Th1 - stim macs (granuloma) |
|
|
Term
|
Definition
| secreted by macs - septic shock |
|
|
Term
|
Definition
|
|
Term
| Brutons agammaglobulinemia |
|
Definition
| X linked - defect in BTK (tyr kinase) - decrease number of B cells/Ig - Bacterial infxns after 6mo old |
|
|
Term
|
Definition
| Digeorge - failure of 3rd and 4th pouch - no thymus or parathyroids - tetany b/c hypocalcemia- viral and fungal infxn b/c T cell deficiency - heart problems |
|
|
Term
|
Definition
| Bubble boy - all types of infxns- defective IL-2 recptors (most common - Xlinked) or Adenosine deaminase deficiency |
|
|
Term
| IL-12 receptor deficiency |
|
Definition
| disseminated mycoTB infxn b/c decreased TH1 repsonse |
|
|
Term
|
Definition
| defect in CD40Ligand on CD4 T cells -->cant class switch - severe pyogenic infxns |
|
|
Term
|
Definition
| Xlinked - no IGM response to capsular polysacch of bacteria - high IgE and IgA- Infections, Thrombocytopenia, Purpura, Eczema |
|
|
Term
|
Definition
| Failure of IFN-Y by helper T cells - no chemotaxis of neuts - coarse faces, cold abcesses (staph aureus), primary teeth, high IgE, Derm problems (eczema) |
|
|
Term
| Leukocyte adhesion deficiency |
|
Definition
| defect in LFA-1 integrin (CD18) on phagocytes - recurrent bact infxna - delayed separation of umbilliucs |
|
|
Term
|
Definition
| AR - defect in microtubular fn and lysosomal emptying of phagocytic cells - recurrent pyogenic infxn by Staph and Srep- Albinism/periph neruopathy |
|
|
Term
| Chronic Mucocutaneous Candidiasis |
|
Definition
| T cell dysfn against Candida |
|
|
Term
|
Definition
| defect in isotype swtiching- selective IgA deficiency most common - sinus and lung infxns |
|
|
Term
|
Definition
| defect in DNA repair enzymes assoc with IgA deficiency - cerebellar problems, spider angiomas |
|
|
Term
|
Definition
| normal B cells, decreased plasma cells, decreased Ig |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| Fructose bisphosphonate -2 |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| Glucose 6 phosphate dehydrogenase (G6PD) |
|
|
Term
| De novo pyrimidine synthesis RLE |
|
Definition
| Asparate transcarbamoylase (ATCase) |
|
|
Term
| De novo purine synthesis RLE |
|
Definition
| Glutamine-PRPP amidotransferase |
|
|
Term
|
Definition
| carbamoyl phosphate synthetase |
|
|
Term
|
Definition
| Acetyl CoA carboxylase (ACG) |
|
|
Term
|
Definition
| Carnitine acyltransferase 1 |
|
|
Term
|
Definition
|
|
Term
| Cholesterol synthesis RLE |
|
Definition
|
|
Term
|
Definition
| decreased phenylalanine hydroxylase or BH4 (tetrahydrobiopterin cofactor) --> MR, fair skin, musty body odor |
|
|
Term
|
Definition
| def in homogentisic acid oxidase (degredative pathway of tyrosine) - pigmented sclera - urine turns black on standing (oxidized), debilitating arthralgias |
|
|
Term
| MAple Syrup urine disease |
|
Definition
| blocked degredation of branched AA (Ile, Leu,Val) - decreased a-ketoacid dehydrogenase - CNS defects, MR, sugary urine |
|
|
Term
|
Definition
| defect in cystathione synthase, homocysteine methyltransferase - high homocysteine - look like marfans - MR, lens subluxation, atherosclerosis |
|
|
Term
|
Definition
| glycogen storage dx- Glucose 6 phosphotase def- sever fasting hypoglycemia |
|
|
Term
|
Definition
| glycogen storage dx- lysosomal a1-4 glucosidase def - cardiomegaly |
|
|
Term
|
Definition
| glycogen storage dx - defect in debranching enzyme - a-1,6 glucosidase- mild von gierkes |
|
|
Term
|
Definition
| glycogen storage dx- defect in skel muscle glycogen phosphorylase - initial exercise - PAIN then no pain after 10-15 min b/c use b oxidation of FA |
|
|
Term
|
Definition
| glycogen storage dx- def in liver glycogen phosphorylase - mild fasting hypoglycemia - heptomegaly - |
|
|
Term
|
Definition
| lysosomal storage dx- defect in sphingomyelinase - neurodegeneration - cherry red spot on macula - foam cells |
|
|
Term
|
Definition
| lysosomal storage dx -def in hexosaminidase A - neurodegeneration - develop delay - charry red spot on macula - lysosomes with onion skin |
|
|
Term
|
Definition
| lysosomal stroage dx - defect in B-glucocerebrosidase - hepatosplenomegalu, aseptic necrosis of femur, bone crisis, macs that look like crumbled tissue paper |
|
|
Term
|
Definition
| ankylosing spondlyitis, reiters, IBD, Psoriasis |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| primary biliary cirrhosis |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| polymositis, dermatomyositis |
|
|
Term
| anti-ss-a (Ro), anti-ss-b (La) |
|
Definition
|
|
Term
|
Definition
| tum supp- chrom 13q - retinoblastoma, osteosarcoma |
|
|
Term
|
Definition
| tum supp- chrom 17p- most cancers - Li-Fraumeni syndrome |
|
|
Term
|
Definition
|
|
Term
|
Definition
| protonco- Burkitts lymhoma |
|
|
Term
|
Definition
| protonco- follicular lymphoma (anti-apoptosis) |
|
|
Term
|
Definition
| protonco- breast, ovarian, gastric |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| PLC - PIP2- IP3 (ca) and DAG (PKC) |
|
|
Term
|
Definition
|
|
Term
|
Definition
| AC - decrease Camp - decrease PKA |
|
|
Term
| mitral/tricuspid regurgitation murmur |
|
Definition
| holosystolic, high pitched clowing murmur |
|
|
Term
|
Definition
EJECTION CLICK then cresendo-decresendo systolic
pulsus parvus et tardus |
|
|
Term
|
Definition
| holosystolic - harsh sounding |
|
|
Term
|
Definition
| MIDSYSTOLIC CLICK - then last systolic murmur |
|
|
Term
| aortic regurgitation murmur |
|
Definition
| high pitched blowing DIASTOLIC murmur - wide pulse pressure |
|
|
Term
|
Definition
| OPENING SNAP- delayed rumbling late DIASTOLIC murmur |
|
|
Term
|
Definition
| CONTINUOUS machine like murmur |
|
|
Term
|
Definition
| Hodgkins cells (more equals worse prognosis) |
|
|
Term
|
Definition
| c-myc gene next to heavy chain Ig gene - Burkitts lymphoma- starry sky |
|
|
Term
|
Definition
|
|
Term
|
Definition
| Follicular lymphoma - bcl-2 expression - |
|
|
Term
|
Definition
| Assoc with breast cancer and ovarian cancer |
|
|
Term
|
Definition
|
|
Term
| estrogen sensitive, moveable, painful/less mass in breast- female under 35 |
|
Definition
|
|
Term
|
Definition
| serious cystadenoma (ovary), meningioma, papillary adenocarcinoma (thyroid) |
|
|
Term
|
Definition
| lungs and bone mostly (live, brain, ovaries) |
|
|
Term
| infiltrating ductal carcinoma of breast |
|
Definition
| often express ERBB2, stellate shaped |
|
|
Term
|
Definition
bone - mosaic pattern, activate osteoclasts then osteoblasts
vulva - (extramammary) - red crusty lesion of vulva- Paget cells- PAS postiive contain mucin
breast - DCIS extension into lactiferous ducts and skin of nipple, rash |
|
|
Term
|
Definition
| tumor marker - prostate (also BPH) |
|
|
Term
|
Definition
| tumor marker- colorectal and pancreatic (some gastric and breast) |
|
|
Term
|
Definition
| tumor marker - heptocellular carcinoma, yolk salk tumor of testes and ovaries |
|
|
Term
|
Definition
| hydatitaform moles, choriocarcinomas, gestational trophoblastic tumors |
|
|
Term
|
Definition
| tumor marker - Ovarian CA |
|
|
Term
|
Definition
| tumor marker - melanoma, neural tumors, astrocytomas |
|
|
Term
|
Definition
| tumor marker - mets to bone, obstructive biliary dx, Pagets dx of bone |
|
|
Term
|
Definition
| tumor marker - nueroblastoma, lung, gastric cancer |
|
|
Term
|
Definition
| tumor marker - Tartate resistant acid phosph - hairy cell leukemia (bcell) |
|
|
Term
|
Definition
| tumor marker - Pancreatic adenocarcinoma |
|
|
Term
|
Definition
|
|
Term
|
Definition
| Primary biliary cirrhosis |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| anit-DNA topoisomerase - diffuse scleroderma |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| made in peritubular capillaries |
|
|
Term
|
Definition
| proximal renal tubules - second hydroxylation of vitD- activation. PTH stim 1apla hydroxylase |
|
|
Term
|
Definition
INCREASE serum Ca+ and DECREASE serum P04- (via renal and bone)
*made by cheif cells in Parathyroid gland |
|
|
Term
|
Definition
| INCREASE BOTH serum Ca+ and P04- (via diet and bone) |
|
|
Term
|
Definition
decreases PTH secretion
causes- diarrhea, diuretics, aminoglyc,, etoh |
|
|
Term
|
Definition
D3 - skin
25OH vit D- LIVER (cytP450- zone 3 by central vein- 1st injured with ischemia)
1,25OH vit D - KIDNEY (prox tubules via 1alpha hydroxylase) |
|
|
Term
|
Definition
| P450s - water soluble, active metab -( red, ox, hydrolysis) |
|
|
Term
|
Definition
| conjugation - soluble, inactive metab - (gluconidation, acetylation, sulfation) |
|
|
Term
|
Definition
DECREASE calcium (via bone)
*made by parafollicular cells (C cells) in thyroid |
|
|
Term
| basophil hormones (ant pit) |
|
Definition
B- FLAT
FSH, LH, ACTH, TSH
(acidophils - Prolactin, GH) |
|
|
Term
| basophil hormones (ant pit) |
|
Definition
B- FLAT
FSH, LH, ACTH, TSH
(acidophils - Prolactin, GH) |
|
|
Term
| islets - a,b,delta, - secretion of and location |
|
Definition
a-glucagon - periph
b- insulin - inside
delta - somatostatin (inhibit GH and TSH) - anywhere |
|
|
Term
|
Definition
FLAT CHAMP -
FLAT - ant pit- FSH, LH, ACTH, TSH
CHAMP - all over- CRH, hCG, ADH (V2), MSH, PTH
Calcitonin, Glucagon |
|
|
Term
|
Definition
|
|
Term
| Tyrosine kinase hormone receptors |
|
Definition
ant pit - PiG - Prolactin, GH
I's - insulin, ILGF-1,
angiogenesis - FGF, PDGF |
|
|
Term
|
Definition
release Ca+ to do something - GGOAT
hypothal - GnRH, TRH, GHRH
post pit - ADH (V1), oxytocin |
|
|
Term
| steriod/intracell hormone receptors |
|
Definition
SALT, SUGAR, SEX and vitd/t3/4
glucocorticoids, T3/4, vitD, aldosterone, test/est/prog |
|
|
Term
| dexamethasone suppression test |
|
Definition
only suppressed with high cortisol in Cushings dx (pit adenoma secreting ACTH)
low cortisol never suppresses (except if healthy)
ectopic ACTH and cortisol prod tumor - no changes with high or low |
|
|
Term
| Waterhouse- Friderichsen syndrome |
|
Definition
| N.meningiditis - adrenal hemmorage -acute adrenocortical insufficiency |
|
|
Term
|
Definition
| assoc with neurofibromatosis, MEN2A, MEN2B |
|
|
Term
|
Definition
| nonselective, irrev, a-antagonist - used in pheochromocytoma |
|
|
Term
|
Definition
| tyr-L-dopa, dopa, NE, epi |
|
|
Term
|
Definition
| 5th disease - parvo B19- slapped cheek/face |
|
|
Term
|
Definition
| 6th dx - HHV6 - 5 day high fever then rash--> febrile convulsion |
|
|
Term
|
Definition
| RNA togavirus - 3day measles (german) - painful postauricular adenopathy/polyarthritis |
|
|
Term
|
Definition
| RNA paramyxovirus - Koplik spots then rash |
|
|
Term
|
Definition
| GAS - pastias lines- strawberry tongue --> glomnephritis |
|
|
Term
|
Definition
| type IHS - IgE- children (cheeks/extrensors and felxural surfaces) - adults (hands/eyelids/elbows/knees) |
|
|
Term
|
Definition
| Type 4HS - poison ivy/nickel/tetracyclines - photosens |
|
|
Term
|
Definition
| igG Ab to desmosomes- type 2HS- INTRAEPITH vesicles - +Nikolskys- Acantholysis of keratinocytes |
|
|
Term
|
Definition
| igG Ab against basement memb- Type 2HS - subepidermal vesicles - no acantholysis - neg nikolskys |
|
|
Term
|
Definition
| anti-IgA igG to dermal papillae- celiac dx- supepidermal cysts with neuts |
|
|
Term
|
Definition
|
|
Term
|
Definition
unreg prolif of keratinocytes- ertyhematous/salmon plaques with silver scales - koebner phenomenon (in areas of trauma)- oil stained/pitted nails - NEVER USE SYSTEMIC STEROIDS!!!!!
hyperkeratosis with rentention of nuclei in stratum corneum |
|
|
Term
|
Definition
| herald patch (oval on trunk) then XMAS tree distribution rash - looks like syphilis but not on palms |
|
|
Term
|
Definition
| erythema multiforme that involves skin and mucous memb |
|
|
Term
| PCT (porphyria cutanea tarda) |
|
Definition
| def in uroporphyrinogen decarboxylase - wine urine - hep C and etoh assoc - photosens bullous skin lesions- avoid light - WOLFMAN - hyperpigmentation and lannugo |
|
|
Term
|
Definition
| urticaria - Type 1HS - igE mediated histamine release by mast cells - |
|
|
Term
|
Definition
| autoimm destruciton of melanocytes in black people- skin depigmentation - (phenols from photography also do this) |
|
|
Term
|
Definition
| normal number of melanocytes - increased number of melanosomes |
|
|
Term
|
Definition
| deficiency in tyrosinase - absent melanin in melanocytes |
|
|
Term
|
Definition
| rpaid increase in number of sebborheic keratoses - - stomach adneocarcinoma |
|
|
Term
|
Definition
| modified melanocytes - - neural crest |
|
|
Term
|
Definition
| risk for malignant melanoma |
|
|
Term
| basal cell carcinoma- skin |
|
Definition
| MOST COMMON - upper lip and higher - - DOESNT METS - arise from basal cell layer - pearly- elderly |
|
|
Term
| squamous cell carcinoma - skin |
|
Definition
| lower lip and lower - UV light - opaque - from acitinic keratosis - |
|
|
Term
|
Definition
Uv light - initially grow laterally then invade - BANS areas (back, neck, scapula- poor prognosis b/c lymph drainage ) -
superficial spreading - most common
acral lentiginous melanoma - poor prog - blacks (under nail) - ABCD - depth of invasion is best prognosis indicator
no mets - excise with borders (less than 0.75 depth- no mets )
Rx- interferon alpha - if mets |
|
|
Term
|
Definition
| on nails - sign of arsenic poisoning - transverse white lines |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
| trypanosoma (gambiense and rhodesiense) vector |
|
Definition
|
|
Term
| leshmania donovani vector |
|
Definition
|
|
Term
| plasmodium (vivax, ovale, malariae, falciparum) |
|
Definition
|
|
Term
|
Definition
| ixodes tick (same as Borrelia burgdorferi) |
|
|
Term
| onchocerca volvulus vector |
|
Definition
|
|
Term
| wuchereria bancrofti vector |
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
| RBC inside cytoplasm of parasite |
|
Definition
|
|
Term
|
Definition
|
|
Term
| RBC with maltese cross rings |
|
Definition
|
|
Term
|
Definition
| echinococcus - anaphylaxis if in blood |
|
|
Term
|
Definition
| inhibits 60S ribosome- prevent mrna |
|
|
Term
|
Definition
| inhibit 60s - prevent mrna |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| MMR, polio, yellow fever, sabin polio, varicella, smallpox |
|
|
Term
|
Definition
|
|
Term
|
Definition
Rabies, Influenza, Polio (salk) , hep A
rip always |
|
|
Term
|
Definition
|
|
Term
|
Definition
IFNy, IL2, TNFb
all stim macs, NK cells, cd8 cells
kill intracell anitgens |
|
|
Term
|
Definition
il4, il5, il6, il10 (inhibits THI pathway), TGFb
activates B cells - co stim to become plasma cells
extracell antigen
Th2 cells have cd40L that binds CD40 on the b cell to activate it along with the cytokines |
|
|
Term
|
Definition
strong innate repsonse via
- il12 from macs
- ifny from NK cells |
|
|
Term
|
Definition
absence of innate response
via 1l-4 |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| inhibit viral protein synth |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| th2 cells- inihibits TH1 response |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| HTN- MCA small vessels (straie lenticulate) - rupture and bleed - Charcot bouchard aneurseym- Caudate putamen area |
|
|
Term
|
Definition
stims hunger
lesion = anorexia |
|
|
Term
|
Definition
stims satiety
lesion = fat
Stim by leptin |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
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Term
|
Definition
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Term
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Definition
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|
