Term
13 autosomal recessive disorders |
|
Definition
cystic fibrosis phenylketonuria albinism a1 AT deficiency thallassemias glycogen storage diseases mucopolysaccharidoses (- hunter) sphingolipidoses (- fabray) PCKD (infant) hemochromatosis chediak higashi bernard soulier glanzmanns |
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Term
13 autosomal dominant disorders |
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Definition
familial hypercholesterolemia familial polyposis coli spherocytosis von willebrand disease ehlers danlos syndrome marfan syndrome achondroplasia NF1 - von recklinghausen NF2 - acoustic neuroma tuberous sclerosis von hippel lindau huntingtons disease PCKD (adult) |
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Term
12 X-linked recessive disorders |
|
Definition
hemophilia A (VIII) hemophilia B (IX) G6PDH decifiency fragile X syndrome fabray lesch nyhan duchenne becker burtons ammaglobulinemia wiskott aldrich chronic granulomatous hunters |
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Term
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Definition
cri di chat (5p) retinoblastoma (13q) Prader Willi (15q11-13 paternal) Angelman (15q11-13 maternal) |
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Term
2 x-linked dominant disorders |
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Definition
hypophosphatemic rickets incontinentia pigmenti |
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Term
1 mitochondrial inheritance disorder |
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Definition
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Term
cystic fibrosis: defect, signs, inheritance |
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Definition
defect in Cl transmembrane movement in epithelial cells
meconium ileus, viscous mucous, recurrent respiratory infections (<6mo S. aureus, >6mo pseudomonas), NaCl in sweat and tears, pancreatitis, cholelithiasis, malnutrition
AR |
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|
Term
phenylketonuria: defect, signs, inheritance |
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Definition
- phenylalanine hydroxylase unable to metabolize phenylalanine, thus cannot make melanin or NE/Epi/DOPA phenylketones build up
neurotoxicity, lighter complexion, mental retardation
AR |
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Term
albinism: defect, signs, inheritance |
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Definition
- tyrosinase, unable to make melanin hypopigmentation AR |
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Term
a1-AT deficiency: defect, signs, inheritance |
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Definition
unable to inhibit elastase causing emphysema
builds up in liver causing cirrhosis
AR |
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Term
glycogen storage diseases and their inheritance |
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Definition
AR von girke, pompe, mcardle |
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Term
mucopolysaccharidoses and their inheritance |
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Definition
hurler, scheie - AR hunter - XR |
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Term
sphingolipidoses and their inheritance |
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Definition
neimann pick, gauchers, keabbes, tay sacs, metachromatic dystrophy - AR fabray - XR |
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Term
polycystic kidney disease (infant): signs, inheritance |
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Definition
non functional kidney and liver cysts lead to failure fatal AR |
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Term
hematochromatosis: defect, signs, inheritance |
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Definition
SI takes up excess Fe deposits in liver, pancreas, heart, skin
cirrhosis, DM 1 like, cardiomyopathy, bronze skin
AR |
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Term
chediak higashi: defect, signs, inheritance |
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Definition
WBC have abnormal microtubules (falty movement, lysosomes, granules)
recirrent infection, lymphoid cancers, albinism, neuropathy
AR |
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Term
bernard soulier: defect, signs, inheritance |
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Definition
AR
lack of Gp1b for platelet adhesion to vWF
bleeding |
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Term
glanzmann's thrombasthenia |
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Definition
excessive bleeding
AR
lack of Gp2b3a for platelet to platelet adhesion |
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|
Term
familial hypercholesterolemia: defect, signs, inheritance |
|
Definition
abnormal LDL receptor so unable to process LDL in the liver
AD
athlerosclerosis, CAD, stroke, PVD, mesenteric ischemia |
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|
Term
familial polyposis coli: defect, signs, inheritance |
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Definition
AD
thousands of colon polyps and cancer |
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|
Term
spherocytosis: defect, signs, inheritance |
|
Definition
- spectrin causes round RBC that are eaten in spleen causing anemia
AD |
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|
Term
von willebrand disease: defect, signs, inheritance |
|
Definition
bleeding
-vWF so cannot bind Gp1b and factor VIII
AD |
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Term
ehlers danlos: defect, signs, inheritance |
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Definition
abnormal collagen or elastin
hyperextensible skin, joints, valve disorders |
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|
Term
marfan syndrome: defect, signs, inheritance |
|
Definition
- fibrillin causes defective microfibrils in CT
tall, thin, ectopic lentis, aortic dilation and aneurysm, archnodactyly, mitralvalve prolapse
AD |
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|
Term
achondroplasia: defect, signs, inheritance |
|
Definition
decreased chondrocyte proliferation in growth plate of long bones
short limbs and digits, early epiphyseal ossification, torso and head normal size
AD |
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|
Term
NF1: defect, signs, inheritance |
|
Definition
AD loss of NF1 tumor supressior gene
neurofibromas optic nerve gliomas pigmented nodules in iris (lisch nodules) cafe au lait spots axillary freckling - pathopneumonic |
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Term
NF2: defect, signs, inheritance |
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Definition
AD loss of NF2 tumor supressor
BL schwannomas meningiomas hearing deficits |
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Term
tuberous sclerosis: signs |
|
Definition
harmatomas: benign brain tumor, potato cysts: liver, kidney, pancreas MR facial angiofibromas shagreens patches: leathery yellow, sacrum ash leaf pathches: leaf like hypopigmented |
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Term
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Definition
high risk renal cell CA (polycythemia, high AP) caipllary hemangiomas in cerebellum and retina cysts: liver, kidney, pancreas |
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Term
huntingtons disease: defect, signs, inheritance |
|
Definition
CAG repeat on CH 4 degeneration of caudate, putamen, frontal cortex
30-40yo, chorea, psych, cognitive decline |
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Term
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Definition
renal cysts berry aneurysms -> subarachnoid hemorrhages |
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|
Term
hemophilia A: cause, inheritance |
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Definition
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|
Term
hemophilia B: cause, inheritance |
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Definition
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|
Term
G6PDH deficiency: cause, inheritance |
|
Definition
cant get rid of ROS in RBC hemolysis when stressed XR |
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Term
fragile X syndrome: defect, signs, inheritance |
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Definition
structural defect in CH X, CGG repeat with anticipation, XR
MR, large ears and jaw, macroorchidism, 50% female carriers have MR |
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Term
fabray disease: defect, signs, inheritance |
|
Definition
- a galactosidase A sphingolipidosis XR
angiokeratomas (wart with telangestica), renal failure, NO CNS DISEASE |
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Term
lesch nyhan: defect, signs, inheritance |
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Definition
- HGPRT causes increase in uric acid because it cannot be recycled XR leads to self mutilation |
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Term
duchenne: defect, signs, inheritance |
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Definition
- dystrophin leads to muscle atrophy, high CK, proximal muscle weakness first XR |
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Term
becker: defect, signs, inheritance |
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Definition
duchenne but less severe, longer before muscle atrophies decreased dystrophin XR |
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Term
burtons ammaglobulinemia: defect, signs, inheritance |
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Definition
low or absent MATURE B cells recurrent bacterial infections XR |
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Term
wiskott aldrich: defect, signs, inheritance |
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Definition
otitis media, eczema, thrombocytopenia, IgM dysfunction XR |
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Term
chronic granulomatous disease: defect, signs, inheritance |
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Definition
granulomas form because neutrophils and macrophages cant kill substance HSN IV |
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Term
hunters: defect, signs, inheritance |
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Definition
mucopolysaccharidoses XR MR, gargoyle faces |
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|
Term
cri di chat: defect, signs, inheritance |
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Definition
5p deletion
high pitched cat like cry microcephaly MR |
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Term
retinoblastoma: defect, signs, inheritance |
|
Definition
malignant retinal tumor of childhood
13q deletion |
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Term
prader willi: defect, signs, inheritance |
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Definition
15q11-13 paternal deletion
hypotonicity, obesity, MR |
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|
Term
angelman syndrome: defect, signs, inheritance |
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Definition
15q11-13 maternal deletion smiles, wide gait, ataxia, MR, laughter |
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Term
hypophosphatemic rickets: defect, signs, inheritance |
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Definition
inherited vitamin D resistance bowed legs XD |
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|
Term
incontinentia pigmenti: defect, signs, inheritance |
|
Definition
XD miniteeth patchy aloplecia |
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|
Term
lebers optic neuropathy: defect, signs, inheritance |
|
Definition
BL blindness sometime after 15yo mitochondrial inheritance retina is ATP dependent so mitochondrial defect decreases ATP causing blindness |
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|
Term
auto-antibody for... 1. autoimmune hemolytic anemia 2. bullous phenigoid 3. DM1 4. phemigus 5. microscopic polyangiitis |
|
Definition
1. anti-RBC 2. anti-epidermal BM 3. anti-B islet cell 4. anti-keratinocyte junction 5. p-ANCA anti-neutrophil cytoplasm |
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Term
auto-antibody for... 1. polymyositis 2. progressive systemic sclerosis 3. sjogerns 4. ITP 5. vitiligo |
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Definition
1. ANA, anti-Jo1 2. anti-SCL70 3. anti-SSA/Ro, anti-SSB/La 4. anti-structural platelet 5. anti-melanocyte |
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|
Term
antoantibody for... 1. RA 2. SLE 3. drug SLE 4. CREST 5. myasthenia gravis |
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Definition
1. anti-IgG (RF) 2. ANA, anti-dsDNA 3. anti-histone 4. anti-centromere 5. anti-ACh receptor |
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|
Term
autoantibody for... 1. graves disease 2. hashimotos thyroiditis 3. wegeners granulomatosis 4. celiac sprue 5. goodpastures 6. primary biliary cirrhosis |
|
Definition
1. anti-TSH receptor 2. anti-microsomal 3. anti-neutrophil cytoplasm (ANCA) 4. anti-glidin 5. anti-glomerular BM 6. anti-mitochondrial |
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Term
4 types of hypersensitivity |
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Definition
hyperacyte: HSN II, preformed Ab acute: memory T cells made, HSN, IV chronic: Ab-made, HSN II graft-vs-host: T cells in transplant attack, HSN IV |
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Term
most common cause of osteomyelitis |
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Definition
S. aureus - normal salmonella - sickke cell serratia/pseudomonas - IV drug users |
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Term
leukocyte adhesion deficiency 1 |
|
Definition
defect in LAF-1 integrin (CD18) on phagocytes which inpairs migration and chemotaxis
bacterial skin and mucosa infection NO PUSS impaired wound healing DELAYED UMBILICAL SEPARATION |
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Term
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Definition
defect in lysosome trafficking gene and microtubules
STAPH AND STREP INFECTION ALBINISM PERIPHERAL NEUROPATHY |
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Term
chronic granulomatous disease |
|
Definition
defect in NADPH oxidase, ROS cannot be made for respiratory burst
infection with CATALASE POSITIVE organisms PLACESS (PSEUDOMONAS, LISTERIA, ASPERGILLUS, CANDIDIA, E COLI, S AUREUS, SERRATIA) |
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Term
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Definition
defect in BTK TK, no mature B cells XR
NORMAL B CELL COUNT, DECREASED Ig ABSENT LYMPH NODES AND TONSILS
PYOGENIC BACTERIA infection |
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Term
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Definition
no class switching to IgA
bacterial infectious of mucous membranes |
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Term
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Definition
defect in B cell maturation
NORMAL AMOUNT OF B CELLS DECREASED Ig
pyogenic bacterial infections |
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Term
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Definition
defect in 3rd-4th pharyngeal pouches causing absent thymus and parathyroids
PROTOZOA, VIRAL AND FUNGAL INFECTIONS TETANY, HYPOCALCEMIA
OFTEN HAVE TERTOLOGY OF FALLOT OF TRUNCUS ARTERIOSUS
decreased T cells, PTH, Ca detection with FISH |
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Term
chronic mucocutaneous candidiasis |
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Definition
T cell dysfunction chronic candidia NORMAL T CELL NUMBERS |
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Term
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Definition
inability of B cells to class switch away from IgM because T cells won't tell them to (CD40 defect)
pyogenic bacterial infections (pneumocystis, CMV, cryptosporidium) |
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Term
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Definition
AD defect in STAT3 in T17 cells so they cant recruit neutrophils hypger IgE drecreased INFy
sinopulmonary infections, candidia, cold abscesses, retained primary teeth, eczema |
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Term
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Definition
failure to thrive, chronic diarrhea, thrush, bacteria, viral, fungal, protozoal infection
decreased T cell receptor activation decreased germinal T cells decreased T cells NO LYMPH NODES PNEUMOCYSTITS PNEUMONIA |
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Term
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Definition
defect in DNA repair of strand breaks
ataxia, spider angiomas, IgA deficiency low T cells sinopulmonary infections |
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Term
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Definition
mutation in WAS gene T cells cannot reorganize actin cytoskeleton B cells not stimulated to make IgM
thrombocytopenic purpura eczema recurrent infections autoimmune disease and malignancy risk otitis media |
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Term
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Definition
intrinsic: hageman (XII) > XI > IX + VIII > X
extrinsic: tissue factor > VII > X
common: X + V + thrombin (II) > fibrinogen (I) > clot > XIII stabilizes |
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Term
testing for bleeding disorders |
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Definition
bleeding time: platelets PT: extrinsic and common PTT: intrinsic and common TT: common |
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Term
von willebrand disease: inheritance, signs, cause |
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Definition
-vWF, cannot bind VII and Gp1b on platelets AD increased menstural bleeding, increased PTT and bleeding time |
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Term
hemophilia A: inheritance, signs, cause |
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Definition
lack of VII, increased PTT, XR, bleeding |
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Term
hemophilia B: inheritance, signs, cause |
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Definition
lack of factor IX XR increased PTT |
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Term
vitamin K deficiency: inheritance, signs, cause |
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Definition
non functional II, VII, IX, X due to lack of y-carboxylation
increased PT, PTT, TT
causes: fat malabsrption, antibiotics, newborns, warfarin |
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Term
why is warfarin prescribed with heparin |
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Definition
at first warfarin stops protein C and S which inhibitors factors V and VIII so clotting increases |
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Term
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Definition
children: post viral, self limited adult: anti-structural platelet (Gp2b/3a)
decreased platelets, petechiae, purpura, mucosal bleeding |
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Term
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Definition
spontaneous platelet aggregation thrombocytopenia schistocytes: helmet cells due to spleen destruction hemolysis: low Hb, reticulocytes, polychromasia (break on staining), high LDH (organ damage), fever |
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Term
spherocytosis: diagnosis, inheritance, signs, cause |
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Definition
-spectrin makes RBC spheres hemolysis of RBC, splenomeagly
positive osmotic fragility test, increased MCHC and RDW
AD
removal of spleen increases encapsulated infection risk |
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Term
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Definition
even some killers have pretty nice capsules
E. coli S. pneumo, salmonella, GBS Klebsiella H. influenza Pseudomonas Neisseria Cryptococcus neoformins |
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Term
G6PDH deficiency: inheritance, signs, cause, diagnosis |
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Definition
XR, more in AA RBC sensitive to oxidative damage
back pain, hemoglobinuria HEINZ BODIES (DENATURED HB)
stress makes me eat bites of fava beans with heinz ketchup |
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Term
sickle cell anemia: inheritance, signs, cause |
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Definition
HbS point mutation of B chain glutamic acid with valine, AR
crystalization when hypoxia, acidic, dehydrated
provides resistance to malaria
autosplenectomy/HOWELL JOLLY BODIES salmonella osteomyelitis vasoocclusive crisis renal papillary ncrosis |
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Term
a-thallasemia: inheritance, signs, cause |
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Definition
decreased z globin chain synthesis 4 deletion: excess y-globin form y4 (HbBart) 2-3 deletion: microcytic anemia |
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Term
b-thallasemia: inheritance, signs, cause |
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Definition
decreases B globin chain synthesis
minor: increased HbA2, microcytic anemia
major (cooleys): severe microcytic anemia, no B globin, CHIPMUNK FACIES, EXTRAMEDULLARY HEMATOPOESIS |
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Term
warm agglutinin disease: signs, cause |
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Definition
cause: methyldopa, dopa, penicillin, cephalopsorin, lymphoma, leukemia, SLE
WEG: warm, extravascular hemolysis, IgG
anti-RBC antibodies cause autoimmune hemolysis |
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Term
cold agglutinin disease: signs, cause |
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Definition
cause: mycoplasma pneumonia, mononucleosis, lymphoma, idiopathic, CLL
CIM: cold, intravascular hemolysis, IgM
anti-RBC antibodies cause autoimmune hemolysis |
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Term
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Definition
direct: detect immune hemolysis, find Ab directly bound to RBC
indirect: find free floating Ab, test for isoimmunization in Rh- females |
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Term
megaloblastic anemias: causes, signs |
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Definition
B12 deficiency: diphyllobothrium latum, diet, type A gastritis, pernicious anemia. shows increase in homocysteine and decrease in methionine, glossitis, peripheral neuropath, loss of proprioception and vibration, dementia, spasticity
folate deficiency: alcoholics, methotrexate, TMP, pnehytoin, pregnancy
other signs: hypersegmented nutrophils |
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Term
plummen vinson: cause, signs |
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Definition
anemia due to low grade long term Fe deficiency
esophageal webs, dysphagia of solids only, atrophic glossitis |
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Term
fanconi anemia: inheritance, signs, cause |
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Definition
inability to remove ROS form marrow AR
microcephaly, cafe au lait, no thumbs or radius, aplastic anemia, leukemia, lymphoma |
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Term
what disease do these cells go with... 1. acanthocyte 2. basophilic stippling 3. bite cell 4. ringed siderblast 5. schistocyte / helmet 6. spherocyte 7. teardrop cell 8. target cell 9. heinz bodies 10. howell jolly bodies |
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Definition
1. liver disease 2. lead poisoning, alcohol abuse, thallasemias 3. G6PDH deficiency 4. sideroblastic anemia, excess Fe 5. DIC, TTP, HUS, traumatic hemolysis 6. spherocytosis 7. marrow infiltration 8. asplenia, liver disease, HbC disease, thallasemia 9. G6PDH deficiency (Hb percipitate) 10. basophilic nuclear remnant, seen with no spleen |
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Term
Fe deficiency anemia: signs, cause |
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Definition
due to chronic bleed (GI, menagorrhea), malnutrition, malabsorption, pregnancy
increased TBIC, decreased ferritin, microcytosis, hypochromia
fatigue, conjunctival pallor |
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Term
lead poisoning: signs, cause |
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Definition
inhibits ALA dehydratase and ferrochetalase stopping heme synthesis and increases protophorphyin
inhibits RNA degradation causing RBC to retain aggregates or rRNA (BASOPHILLIC STIPPLING)
LLEEAADD S
L ead lines on gingive (burtons) L ead lines on long bones E ncephalopathy E rythrocyte basophillic stippling A bdominal colic A anemia sideoblastic D rop of wrist and foot D imercaprol and EDTA 1st line tx S uccimer for chelation in kids |
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Term
anemia of chronic disease: signs, cause |
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Definition
inflammation increases HEPCIDIN which finds ferroportin on macrophages and inhibits Fe release
decreased Fe and TBIC increased ferritin
normocytic then microcytic hypochromatic |
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Term
sideroblastic anemia: inheritance, signs, cause |
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Definition
XR defect in ALA synthase
ringed sideroblasts with Fe in mitochondria in marrow
increased Fe and TBIC, increased ferritin
causes siderocytes: Fe in RBC not bound to Hb (pappenheimer bodies) |
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Term
paroxysmal nocturnal hemoglobinuria: cause |
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Definition
defect in GPI anchor for factors that protect RBC from complement |
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Term
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Definition
blue lace patterns due to rRNA remnants |
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Term
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Definition
RA with anti-neutrophil antibodies that cause neutropenia |
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Term
causes of increased neutrophils, eosinophils, lymphocytes, monocytes |
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Definition
neutrophils: inflammation, bacteria, cancer, leukemia
eosinophils: HSN 1, helminths
lymphocytes: granulomatous diseases, virus, pertussis
monocytes: granulomatous diseases, infectious mononucleosis |
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Term
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Definition
mutant factor V resistant to degration by protein C hypercoaguability |
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Term
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Definition
most common malignancy in kids
lymphadenopathy lymphoblastic +TdT impaired marrow |
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Term
|
Definition
myelobasts +auer rods: red staining peroxidase positive needle like impaired marrow |
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Term
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Definition
myelocytes philadelphia chromososm (9;22) cbr-abl fusion makes oncogene LOW LEUKOCYTE ALKALIKE PHOSPHATASE (LAP) (no mature granules)
blast crisis: can change to AML |
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Term
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Definition
lymphocytes impaired marrow SMUDGE CELLS SLL = varient caused by sezary syndrome (leukemic component of mycosis fungoides from the skin) |
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|
Term
hairy cell leukemia signs |
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Definition
middle age white dude SPLENOMEAGLY B cells with hair like projections impaired marrow +TRAP +CD25 marrow fibrosis, dry tap on aspiration |
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|
Term
burkitt lymphoma: cause, signs |
|
Definition
t(8;14) c-myc (8) Ig heavy chain (14) STARRY SKY lymphocytes and macrophages EBV jaw lesion (africa) pelvis/abdomen lesion (other places) |
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Term
diffuse large B cell lymphoma cause |
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Definition
t(14;18) most common non-hodgkins in adults |
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|
Term
mantle cell lymphoma cause |
|
Definition
t(11;14) cyclin D1 (11), Ig heavy chain (14)
CD5+ |
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Term
follicular lymphoma cause |
|
Definition
t(14;18) Ig heavy chain (14), bcl-2 (18)
waxing and waining lymphadonaopathy |
|
|
Term
|
Definition
HTLV-1 virus associated with IV drug abuse
cutaneous lesions, lytic bone lesions, hypercalcemia |
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|
Term
hodgkins lymphoma: types, signs |
|
Definition
reed sternberg cells fever, night sweats, weight loss 50% associated with EBV giant cells with bilobed nuclei (owl eyes)
2 eyes x CD15 = CD30
nodular sclerosing: M=F, has sclerosis to keep cancer in cage mixed cellularity: has sclerosis to keep cancer in cage lymphocyte rich: best prognosis lymphocyte depleted: poor prognosis |
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Term
monoclonal gammopathy: cause |
|
Definition
excess functional Ig benign, could progress to multiple myeloma |
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|
Term
multiple myeloma: cause, signs, dx |
|
Definition
myeloma cells: plasma cell tumor in marrow secrete IgG, IgA, light chains (bence jones proteins), IL-6 and 1 (activates osteoclasts making punched out lesions)
hypercalcemia, leukocytopenia, amyloidosis (AL light chain), renal insufficiency
M spike on electrophoresis SPEP bence jones proteins on UPEP, plasma cells with CLOCK FACE CHROMATIN (intracytoplasmic Ig) |
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|
Term
waldenstorms primary macroglobulinemia: cause, signs |
|
Definition
M spike due to IgM increase which causes hyperviscosity FLAME CELLS: eosinophilic neoplastic plasma cells
fatigue, weakness, bleeding, headache, visual problems, neuro problems |
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|
Term
phlebothrombosis risk factors |
|
Definition
risk factors for clots in veins... blood stasis, hypercoaguability, endothelial cell damage |
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Term
trosseau's syndrome: cause, sign |
|
Definition
migratory venous thrombosis common with CHG, pregnancy, adenocarcinoma |
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|
Term
acute intermittent prophyria: cause, signs |
|
Definition
- prophobilinogen deaminase so porphilinogen, delta-ALA, and coporphobilinogen (urine) accumulate
5P's painful abdomen port wine coloredurine polyneuropathy psych disturbance percipitated by drugs, etoh, starvation |
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|
Term
prophyria cutanea tarda: cause, signs |
|
Definition
- uroporphyrinogen decarboxylase uroporphyrin accumulates causing tea colored urine photosensitivity leads to blistering |
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|
Term
5 chromosome translocations and their disease |
|
Definition
9;22 CML philaldelphia 8;14 burkitt (c-myc) 11;14 mantle cell (cyclin D) 14;18 follicular lymphome (bcl-2) 15;17 M3 type AML |
|
|
Term
langerhans cell histocytosis |
|
Definition
proliferation of langers (monocyte lineage) in child
lytic bone lesions otitis media involing mastoid
+S100 +CD1a +birbeck granules (tennis rackets) |
|
|
Term
|
Definition
CML type HCT >55% JAK2 mutation itching after shower erythromelalgia: burning with red blue discoloration NO EPO INCREASE (THAT WOULD BE 2 POLYCYTHEMIA) |
|
|
Term
|
Definition
CML type overproduction of platelets bleeding, thrombosis enlarged megakaryocytes in marrow |
|
|
Term
|
Definition
CML type fibrosis of marrow TEARDROP RBC |
|
|
Term
mockenbergs arterlosclerosis |
|
Definition
benign Ca deposits in vessel media product lumps radial and ulnar arteries often palpable |
|
|
Term
hyperplastic arteriolosclerosis |
|
Definition
due to malignant HTN >210/150 small arteries and aeterioles onion skin hyperplasia of media causes progressive lumen narrowing |
|
|
Term
hayline arteriolosclerosis |
|
Definition
inflammation and use: HTN, age, DM thickened basement membrane nephrosclerosis of kidney media can atrophy causing aneurysm |
|
|
Term
hypersensitivity arterities |
|
Definition
HSN III to HSV, EBV, HIB +P-ANCA small vessels: skin, muscle, brain, kidney PAINFUL PURITIC PURPURA ON BUTT |
|
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Term
|
Definition
IgA complex deposition small vessels children PALPABLE PURPURA ON BUTT arthralgias, BLOODY DIARRHEA glomerulonephritis
cause: URI virus, drug penicillin, vaccination |
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Term
|
Definition
transmural necrotizing inflammation of artery with WBC invading due to HBC, HCV, hairy cell leukemia
fever, abdominal pain, renal disease NOT GN, HTN, neuritis, myalgia |
|
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Term
|
Definition
small vessels +P-ANCA reaction to drugs penicillin GN - RPGN pulmonary capillaritis palpable purpura (due to skin capillaries) hemoptysis hematria myalgias (due to M capillaries) |
|
|
Term
thromboangiitis obliterans (burgers) |
|
Definition
HSN to tobacco TIBIAL AND RADIAL ARTERIES granulomas gangrene |
|
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Term
|
Definition
granuloma aortic, carotid, vertebral, temporal arteries
fever, fatigue, temporal headache, high ESR, jaw claudication, SUDDEN MONOCULAR BLINDNESS
female >50 |
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|
Term
|
Definition
systemic giant cell arterities arthralgia, myalgia, fever, VERY high ESR, LIMB CLAUDICATION, CVA, MI, organ infarcts |
|
|
Term
|
Definition
+C-ANCA granulomas of small vessels sinusitis, GN-RPGN, cavitary lung lesions, sinus polyps |
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Term
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Definition
granuloma thickened aortic arch asian 15-40 night sweats, CP, absent or weak peripherial pulse (decreased aortic recoil) |
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Term
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Definition
fever, conjunctivitis, red palms and soles, HIGH RISK CORONARY ARTERY ANEURYSM, oral mucosa edema, cervical lymphadenopathy
1ST LINE TX ASPIRIN and IVIG |
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Term
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Definition
granulomas PAN like vessel wall eosinophil invasion +P-ANCA LUNG AND HEART asthma like attack, lung infiltrates myocarditis, coronary destruction |
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Term
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Definition
phlebitis oral and genital ulcers like herpes uveitis, iritis, arthritis of KNEE silk route +anti-human oral mucosa Ab -tzank test |
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Term
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Definition
leutic aneurysm obliterative endarteritis of vasa vasorum of thoracic aorta ischemia of media shrinkage of media causes buckle and tree barking aortic regurgitation |
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Term
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Definition
intima tears can rupture and hemorrhage double barrel sign risk in HTN and marfans
A or 2: ascending aorta B or 3: descending aorta 1: both
dyspnea, cough (laryngeal compresion), aortic regurgitation, tearing CP |
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Term
murmurs... 1. blowing 2. harsh 3. click 4. machine |
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Definition
1. regurgitation 2. stenosis 3. prolapse 4. PDA |
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Term
cause of aortic stenosis, aortic regurgitation, mitral stenosis, mitral regurgitation, mitral prolapse |
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Definition
aortic stenosis: calcification, congenital bicuspid
aortic regurgitation: HTN, leutic aneurysm, dissection, ankylosing spondylitis
mitral stenosis: rheumatic heart disease
mitral regurgitation: MVP, rheumatic heart disease, endocarditis, papillary muscle ruprute after MI
mitral prolapse: marfans, elhers danlos, fragile X |
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Term
random word association... 1. boot heart 2. aschoff body 3. charcot laiden crystals 4. curshman spirals 5. panda sign 6. red and gray hepatization |
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Definition
1. tetralogy of fallot 2. multinucleated giant cells and enlarged monocytes in rheumatic fever 3. eosiophils in asthmatic spit 4. live swirly eosinophils in asthmatic spit 5. sarcoidosis of parotid glands 6. red first when lobe fills with RBC gray when it fills with fibrin in pneumococcus |
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Term
causes of ST depression and their blood markers |
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Definition
stable angina: none unstable angina: CK-MB non-Q wave MI: CK-MB, troponin |
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Term
causes of ST elevation and their blood markers |
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Definition
Q wave (transmual) MI: CK-MB, troponin prinzmetal angina: none |
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Term
acute vs subacute infective endocarditis |
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Definition
acute: S. aureus, strep, drug ucers, diabetic
subacute: Strep viridans, E. coli, prior valve pathology |
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Term
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Definition
thrombi on endocardium seen in chronic illness esp adenocardinoma (mucin clots) |
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Term
causes of the three types of pericarditis |
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Definition
fibrinous; MI, dresslers (pericarditis post MI)
serous: coxackie B, uremia, rheumatic, scleroderma, SLE
suppurative: s. pneumo, s. aureus |
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Term
obstructive vs restrictive |
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Definition
obstructive: decreased FEV1, FVC, FEV/FVC ratio, increased TLS
restrictive: normal FEV1 and ratio, decreased TLC |
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Term
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Definition
irreversible focal bronchial dilation
cause: infection usually with kartageners syndrome or cystic fibrosis
purulent hemoptysis |
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Term
location and buzz word 1. asbestosis 2. anthracosis 3. berylliosis 4. silicosis |
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Definition
1. lower, pleural plaque, ferruginous bodies 2. upper, right heart failure, black lung 3. lower, technology, flourescence 4. upper, quarts, sand/stone cutting, TB!! |
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Term
diffuse idiopathic fibrosis |
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Definition
aka UIP honeycomb lung fatal in years finger clubbing VELCROW SOUND |
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Term
cause of 1. bronchopneumonia 2. lobar pneumonia 3. atypical pneumonia |
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Definition
1. hemophilus, pseudomonas, staph 2. pneumococcus, klebsiella, legionares 3. viruses, mycoplasma, legionaires |
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Term
cause of ronchi, rales, wheezing |
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Definition
ronchi: chronic bronchitis, bronchopneumonia rales: bronchopneumonia, atypical pneumonia, legionares wheeze: asthma |
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Term
1. adenocarcinoma 2. squamous cell CA 3. large cell CA 4. small cell CA |
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Definition
1. peripherial 2. central 3. peripherial 4. central |
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Term
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Definition
SCC: PTH (hypercalcemia) SmCC: ADH (HTN), ACTH (Cushings), eaton lambert (Ab to NMJ Ca channels) |
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Term
3 nephritic GN and their buzz words |
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Definition
RPGN: crescents (proliferation of bowmans), 1 Ab, 2 complex, 3 ANCA
acute proliferative: post strep, lumpy bumpy, IgG and C3 subEPIthelial, mesangial proliferation
goodpastures: anti-glomerular GM, linear IgG and C3, hemoptysis |
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Term
3 nephrotic GN and their buzz words |
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Definition
minimal change: loss of foot processes, URI HX, #1 in kids
membranous GN: spike and dome IgG and C3 subEPIthelial
focal segmental: sclerosis, chronic ureteral reflux, heroin, <35yo |
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Term
3 nephritic and nephroti GN and their buzz words |
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Definition
membranoproliferative: URI, HepC, heroin, SLE, mesangial proliferation, TRAM TRACK C3 subENDOthelial, decreased serum complement
IgA nephropathy (bergers): URI or GI viral infection, IgA complex deposits, increased serum IgA
diabetic/kimmelstiel wilson: 20y with DM, microalbuminuria, small kidneys, sclerosis of BM in nodules |
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Term
random buzz word... 1. muddy brown casts 2. triple stone 3. Ca oxylate 4. cystinuria 5. reinke crystals 6. beeding of bile ducts |
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Definition
1. acute tubular necrosis 2. staghorn calculus/struvite caused by urea splitting proteus or saphrophyticus 3. uric acid stone 4. cystine stone, black 5. leydig cell tumor 6. narrowing and dilation primary sclerosis cholangitis |
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Term
timeline of troponin, CK-MB, Mb |
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Definition
troponin: released 2-4h, peak 12h, lasts 7d
CK-MB: peak 10-24h, lasts 2-3d
Mb: peaks 2h, lasts less than CK-MB |
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Term
candidiasis vulvovaginitis |
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Definition
pH <4.5 bready odor germ tubes and pseudohyphae DOC miconazole, second fluconazole puritis, erythema, satelite lesions, curd like discharge |
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Term
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Definition
DOC metronidazole puritis, frothy green discharge, putrid smell darting trich on wet prep often carried asymptomatically in rectum |
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Term
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Definition
gardnerella and mobilnucus DOC metronidazole gray white discharge +KOH whiff test fishy odor clue cells |
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Term
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Definition
DOC ceftriaxone + doxy for chalmydia purulent discharge ascends to cause PID and salpingitis |
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Term
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Definition
non-gonoccal urethritis DOC doxycyclinie + ceftriaxone for gonorrhea |
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Term
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Definition
eruption of skin surface chalmydia trachomatis L1-3 DOC docycycline |
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Term
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Definition
klebsiella granolomatis / donovania granulomatis
blocks lymph drainage of genitals in inguinal area
DOC tetracycline |
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Term
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Definition
H. ducrey school of fish on microscope painful canchre DOC ceftriaxone |
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Term
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Definition
treponema pallidum DOC pen G 1. painless canchre 2. rash palms and soles, condylomata lata on genitals (flat, light brown/pink) 3. gumma, tabes dorsalis (destruction of posterior columns), psychosis, dementia, luetic aneurysm, aortitis, aortic regurgitation |
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Term
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Definition
genital warts painless koliocytes: perinuclear clearing HPV 6, 11, 16, 18, 30s
cause cancer via E6/p53 and E7/Rb |
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Term
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Definition
HSV1/2 painful fluid filled vesicles in group on red base trigeminal ganglion if oral, lumbar/sacral ganglion if genital +tzank test for multinucleated giant cells DOC acyclovir |
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Term
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Definition
asymptomatic ascends to cause PID DOC doxycycline + ceftriaxone for gonorrhea |
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Term
testicle tumor serum markers and basic facts... 1. seminoma 2. choriocarcinoma 3. yolk sac tumor 4. teratoma 5. embrynonal |
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Definition
1. most common, like ovarina dysgenesis, hCG 2. teens, like ovarian choriocarcinoma, hCG 3. like endodermal sinus tumor, aFP 4. 2+ germ layers, immature cells 5. painful, hCG, 2nd most common |
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Term
ovarian tumor cell types... 1. serous 2. mucinous 3. endometroud 4. clear cell 5. brenner |
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Definition
1. cystadenoma/CA, fallopian epithelium serous filling 2. cystadenoma/Ca, columnar epithelium, mucus filling, pseudomyxoma peritonei 3. glandular tissue, solid 4. lots of cytoplasm, often with endometroisis or endometrial CA 5. celioblastoma, like bladder cells, coffee bean nuclei |
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Term
ovarian tumor general info... 1. teratoma 2. dysgegeminoma 3. endodermal sinus 4. choriocarcinoma |
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Definition
1. 2+ germ layers, dermoid cyst (teeth, skin), struma ovarii (hyperthyroid part) 2. like seminoma 3. like yolk sac tumor, aFP 4. agressive, hCG, trophoblast |
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Term
ovarian tumor general info... 1. granulosa theca 2. sertoli leydig 3. fibroma 4. krukenberg |
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Definition
1. secretes estrogen, call exner bodies, causes endometrial CA 2. adenoblastoma, makes testosterone, virulization, deep voice 3. meigs syndrome (ascites, pleural effusion), solid tumor, spindle fibroblasts 4. metastasis of signet ring cells from stomach to ovary, mucous pushes nuclei to side |
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Term
buzz word association 1. whorled smooth muscle 2. brown bloody foul smell discharge 3. large for gestational age 4. bloody nipple discharge 5. log shaped tumor 6. low hGC |
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Definition
1. uterine leiomyoma/fibroid 2. choriocarcinoma 3. hydatidiform mole 4. intraductal papilloma 5. phylloides breast tumor / cystosarcoma phylloides 6. ectopic pregnancy |
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Term
buzz word association 1. BRACA1 2. gelatenous (breast cancer) 3. microcalcifications (breast cancer) 4. peau d orange, nipple retraction 5. signet ring cells (breast cancer) 6. cells in single file (breast CA) 7. pagets disease |
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Definition
1. medullary breast CA 2. colloid/mucinous CA 3. DCIS comedocarcinoma 4. DCIS 5. LCIS 6. LCIS 7. DCIS |
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Term
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Definition
XXY testicle atrophy enuchoid body tall, long gynecomastia female hair |
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Term
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Definition
XO short ovarian dysgenesis/streak ovary shield chest bicuspid aorta preductal coarctation webbed neck horseshoe kidney primary amenorrhea |
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Term
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Definition
>140/90 >300 protein/24h >20 wks abnormal placenta spiral arteries causes vasoconstriction
headache, scotoma, oliguria, thrombocytopenia |
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Term
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Definition
preeclampsia + seizure can cause intrancranial hemorrhage and ARDS TX: anti-HTN, IV MgS, delivery |
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Term
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Definition
hemolysis elevated liver enzymes low platelets
severe preeclampsia TX: delivery |
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Term
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Definition
extension of endometrial glands into myometrium due to basalis hyperplasia large, soft, globular uterus |
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Term
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Definition
endometrial polyp, may contain myometrium |
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Term
|
Definition
1. SCC, usually secondary to cervical 2. clear cell, mom took DES 3. sarcoma botryoides, rhabdomyosarcoma, <4yo, spindle shaped tumor cells desmin + |
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Term
inflammatory breast tumor |
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Definition
dermal lymphatic invasion by carconoma peau d'orange blocks lymphatic drainage |
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Term
acute mastitis: cause, treatment |
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Definition
breast abscess during breast feeding via S. aureus DX dicloxacillin |
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Term
BPH vs prostic adenocarcinoma |
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Definition
BPH: middle and lateral lobes, frequency, nocturia, difficulty starting and stopping pee, PSA
adenocarcinoma: posterior lobe, PSA, osteoblastic metastasis, ALP |
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Term
buzz word association.. 1. tet spells 2. wide fixed S2 split with loud S1 3. turner syndrome heart 4. radiofemoral delay 5. corneal arcus |
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Definition
1. tertalogy of fallot 2. ASD 3. infantile coarctation of aorta 4. adult coarctation of aorta 5. lipid deposit on cornea with hypercholesterolemia |
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|
Term
buzz word association... 1. diabetic mother infant 2. down syndrome heart 3. rubella heart 4. string of beads 5. mediastinal widening |
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Definition
1. transposition of the great vessels 2. ASD, VSD, endocardial cushion defect 3. PDA, pulmonary artery stenosis 4. fibromuscular dysplasia 5. aortic dissection |
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Term
|
Definition
arrhythmia: #1 COD before hospital LV failure/pulmonary edema cardiogenic shock: #1 most fatal ventricular wall rupture papillary muscle rupture septal rupture ventricular pseudoaneurysm formation pericarditis fibrinous dressler syndrome: autoimmune fibrinous pericarditis |
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Term
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Definition
dilated: #1, alcohol, beriberi, coxackie B, cocaine, chagas, doxorubicin. S3, BALLOON HEART
hypertrophic: familial B-myosin mutation, dredreich ataxia, SUDDEN DEATH IN YOUNG ATHLETES, S4
restrictive: sarcoidosis, amyloidosis, fibrosis, loffler syndrome (eosinophils), hemochromatosis). LOW VOLTAGE ECG THICK MYOCARDIUM |
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|
Term
buzz word association... 1. nutmeg liver 2. oslers nodes, janeway lesions, splinter hemorrhages 3. #1 heart tumor 4. kussmauls sign |
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Definition
1. right heart failure 2. acute endocarditis 3. myxoma (ball valve in LA, syncope) 4. constrictive pericarditis, restrictive cardiomyopathy, RA or RV tumor |
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Term
general info of vascular tumors... 1. strawberry hemangioma 2. cherry hemangioma 3. pyogenic granuloma 4. cystic hygroma 5. glomus tumor |
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Definition
1. benign, capillary, infant, regress 5yo 2. benign, capillary, elderly, no regreess 3. capillary, ulcerate and bleed, trauma, pregnancy 4. cavernous, neck, turner syndrome 5. painful, red-blue, fingernail, smooth muscle cells of glomus body |
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Term
vascular tumor gener info... 1. bacillary angiomatosis 2. angiosarcoma 3. lymphangiosarcoma 4. kaposki sarcoma |
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Definition
1. benign, capillary, AIDS, bartonella henselae 2. head, neck, boob, sun 3. lymphedema, post-radical mastectom 4. skin, mouth, GI, respiratory, HHV-8, HIV |
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Term
buzz word association... 1. fatty casts 2. waxy casts 3. stones in chrons 4. coffin lid stone 5. envelope/dumbbell stone 6. rhomboid or rosette stone 7. hexagon stone 8. WAGR 9. squamous bladder metaplasia 10. thyroidation of kidney |
|
Definition
1. nephrotic syndrome 2. renal failure 3. Ca oxylate kidney stones 4. ammonium MgP renal stones (struvite) 5. calcium stone 6. uric acid stone 7. cysteine 8. wilms tumor, anridia, GU malformation, retardation 9. schistosoma haematobium, smoking 10. chronic pyelonephritis |
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Term
buzz word association... 1. homan sign 2. ivory pleural plaques 3. ferruginous bodies 4. egg shell calcification of hilar nodes 5. kulchitsky cells 6. chromogramin A 7. keratin pearls, intracellular bridges |
|
Definition
1. dorsi flexion of foot DVT 2. asbestosis 3. asbestosis, dumbells, gold-brown 4. silicosis 5. dark blue cells in SmCC 6. bronchial carcnoid lung tumor 7. lung SCC |
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Term
|
Definition
follicle: B cell proliferation, germinal centers
medulla: cords (lymphocytes and plasma cells), medullary sinuses (communicate with lymphatics and have macrophages)
paracortex: T cells, middle region, has venules so T and B cells can enter blood |
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Term
T cell development and function |
|
Definition
marrow: T cell precursor
thymus: CD4+CD8+ > positive selection in cortex, negative selection in medulla > become CD4+ OR CD8+
activation: APC (B cell, macro, dendritic) activates by presenting antigen on MHCII to TCR on Th cell, then B7/CD28 signaling
class switching: Th cell binds B cell on CD40 and tells it to class switch |
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Term
antibody structure and diversity |
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Definition
FAB: antigen binding, determines idiotype FC: carboxy, complement binding, determines isotyoe (IgM, G, etc)
diversity is caused by: VJ (light chain) VDJ (heavy chain), heavy chain recombination with light chain, SOMATIC HYPERMUTATION after antigen stimulation |
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Term
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Definition
IgG: #1 in delayed response, most abundent, crosses placenta, opsonizes
IgA: mucous membranes, tears, saliva, breast milk (colostrum)
IgM: #1 immediate responder, on surface of B cells, large
IgD: on B cells
IgE: on mase cells and basophils, allergen, HSNI, histamine, eosinophils, helminths |
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|
Term
main problem in each deficiency... 1. C1 esterase inhibitor deficiency 2. C3 deficiency 3. C5-9 deficiency 4. DAF (GPI anchor) deficiency |
|
Definition
1. hereditary angioedema 2. pyogenic URI infections, HSN III 3. neisseria infections 4. complement lysis of RBC (paroxysmal noctournal hemoglobinuria) |
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Term
|
Definition
MMR polio sabin influenza intranasal varicella yellow fever |
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|
Term
ARDS: criteria, most common cause, mechanism |
|
Definition
damage of alveolar capillaries and leaking protein into lung causes hayline membranes leads to rapid fibrosis gram negative sepsis temp >100.4 or <98.6 HR >90 RR >20 or low CO2 (resp alkalosis) WBC <4000 or >12000 or >10% bands |
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|
Term
DOC and MOA actinomyces israelii |
|
Definition
penicillin (gram positive rod anaerobe) inactivating PBP which stop crosslinking in cell wall |
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|
Term
|
Definition
|
|
Term
|
Definition
doxycycline (causes Q ever, pneumonia, hepatitis, myocarditis) |
|
|
Term
|
Definition
TMP/SMX (aerobe causes lung abscess) |
|
|
Term
obligate anaerobes lack ____ and ____ |
|
Definition
catalase superoxide dismutase |
|
|
Term
|
Definition
|
|
Term
what drugs lower LES pressure causing GERD |
|
Definition
anything that decreases excitatory cholinergic input that induces NO
nitrates, CCB, a-blockers, B-agonists |
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|
Term
1. cross sectional study 2. randomized controlled trial 3. chohort study 4. meta analysis |
|
Definition
1. collect data from 1 group of people to assess prevalence of disease and risk factors, fast inexpensibe, no follow up
2. studies tx effecacy, control and tx groups, gold standard for mature research
3. observational, two groups chosen based on exposure status, no follow up
4. gather info from already completed studies and form overall conclusion |
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Term
|
Definition
cough, coryza (cold like), conjunctivitis, koplik spots, rash starting on face spreads down (gone 2d before measles) |
|
|
Term
|
Definition
aceomeagly, increased insulin, colon polyps, micrognathia (enlargement of face, hands, feet), microglossia, hyperhydrosis, prognathism, arthritis |
|
|
Term
|
Definition
altered lipid metabolism, increased SC fat, decreased muscle mass, decreased bone density, decreased exercise performance, low energy, poor memory, impaired sleep, emotional instability, hypoglycemia, impaired glyconeogenesis |
|
|
Term
choices ok for HTN in pregnancy |
|
Definition
labetalol and hydralazine are DOC nifedipine and methyldopa are ALT |
|
|
Term
what drug causes cyanide poisoning, what is its use |
|
Definition
|
|
Term
|
Definition
placenta abruption acute renal failure pulemonary edema DIC eclampsia |
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|
Term
signs of Mg sulfate toxicity and treatment |
|
Definition
loss of DTR, respiratory paralysis, come TX calcium gluconate |
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|
Term
what are the 3 spaces of the shoulder, their borders, and contents |
|
Definition
quadrangular: teres minor, humerus, teres major, long head of biceps. AXILLARY NERVE, POSTERIOR CIRCUMFLEX ARTERY
triangular interval: teres major, long and short head of the biceps. PROFUNDA BRACHII A AND RADIAL NERVE
triangular space: teres major, teres minor, long head of biceps, CIRCUMFLUX SCAPULAR A |
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|
Term
|
Definition
isoniazid, blocks mycolic acid synthesis |
|
|
Term
|
Definition
obstructive: tension pneumothorax, large PE
adrenal shock: nausea, fever, vomiting, confusion, hyperkalemic hyponatremia metabolic acidosis
distributive: AV shunt decreases TPR, high CO, hypotension, high PP, low diastolic pressyre, often septic shock
hypovolemic shock: fluid loss, dehydration, vomiting, low CO, high TPR
neurogenic shock: spinal cord or CNS injury, trauma, bradycardic, hypotensive
cardiogenic: LV failure |
|
|
Term
associations with type A and O blood |
|
Definition
A: gastric tumors O: peptic ulcer disease |
|
|
Term
|
Definition
worse headache of life ruptured berry aneurysm (HTN |
|
|
Term
DOC, growth media legionella pneumophila |
|
Definition
levofloxacin/flouroquinolones, buffered charcoal yeast extract agar, silver stain for sputum |
|
|
Term
most common cause of bacterial parotitis |
|
Definition
|
|
Term
|
Definition
alar: odontoid to foramen mangnum cruciform -transverse: C1 to dense posterior -superior band: transverse to occiput -inferior band: transverse to C2 tectoral membrane: superior continuation of posterior longitudinal ligament anterior longitudinal ligament |
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|
Term
cervical cause of headache |
|
Definition
cervical dysfunction irritates greater occipital nerve suboccipital muscles tight in tension headahce |
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|
Term
changes in cervical spine after wiplash, best treatment |
|
Definition
C2-7 sidebent and rotated opposite indirect fascial or counterstrain to prevent further spasm |
|
|
Term
cervical cause of sinusitis |
|
Definition
suboccipital muscles interfere with venous drainage |
|
|
Term
most common cause of nerve root pressure in the cervical spine |
|
Definition
uncinate processes on joints of luschka / uncovertebral joints degenerate and hypertrophy with arthritis and are close to intervertebral foramen |
|
|
Term
diagnosis of cervical stenosis vs disc herniation |
|
Definition
spurlings: if backward bending makes symptoms worse it is stenosis
forward bending makes herniation worse |
|
|
Term
location of cervical sympathetic ganglia |
|
Definition
inferior: ventral 1st rib middle: C6 superior: C2-4 |
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