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EVB attaches to CD21 on B cells
Hypogonasdism, mental retardation, and unilateral gynecomastia Klinefelter syndrome
Hypogonadism and color blindness Kallmann syndrome (absent GnRH)
Hypogonadism, mental retardation, retinitis pigmentosum Laurence-Moon-Biedl syndrome
Male w/ Hypogonadism, mental retardation, short stature, and webbed neck Noonan syndrome (similar to Turners syndrome)
Hypogonadism and anosmia Kallmann syndrome
Microdeletion syndrome w/ hypogonadism, mental retardation, short stature, and obesity Prader-Willi syndrome (deletion of paternal origin) and Angelman syndrome (deletion of maternal origin)
Vitamin absent in colostrum Vit D
low AFP Downs Syndrome
Where is Erythropoieten produced? Endothelial cell of peritubular capillaries
Kwashiorkor decreased protein intake but normal total caloric intake (all CHO), fatty liver from decreased apolipoproteins, pitting edema, faky paint dermatitis.
Vit A tox increased intracranial pressure, hypercalcemia
Yellow colored patient (except for eyes), has Primary hypothyroidism. MOA? Beta-carotenemia from conversion of beta-caotenes into Retinoic acid in the intestine.
Rickets vs. Osteomalacia Both have an increase in unmineralized osteoid. Craniotabes and rachitic rosary in rickets, not osteomalacia
Vitamin E tox interferes w/ vitamin K dependent factors leading to a hemorrhagic diathesis (bleeding tendency)
Goats milk B6 and folate deficiency
Function of Vit. C reduce dietary iron from Ferric (3+) to ferrous (2+) for reabsorption; hydroxylation of proline and lysine (binding site for cross-Bridges);prevents nitrosamination; reduces metHb back to reduced Hb
Cyanosis not relieved by oxygen in a pt. coming home from a camping trip Methemoglobinemia (water has nitrites that oxidized iron to ferric condition); SaO2 not PaO2 is decreased. Methylene blue is the tx of choice; ascorbic acid has an ancillary role.
Pt. on corticosteroids, which part of adrenal cortex is atrophied? Fasciculata and reticularis, but not the glomerulosa where aldosterone is made
sepsis in an elderly man w/ BPH usually E.coli and produce endotoxic shock
DNA repair defects Fanconi's anemia (crosslinking agents
which lipid is most affect by fasting? TGs b/c it comes from chylomicrons, whereas cholesterol and HDL do not.
Drugs that inhibit the cytochrome system H2 blockers, proton blockers
Drugs that enhance the SER cytochrome system in the liver alochol, barbiturates, increase in serum gammaglutamyl transferase (GGT), get decreased drug levels due to enhanced metabolism
Gummatous necrosis Tertiary syphilis
Granuloma: what type of hypersensitivity? Type 4
Cri-du-chat deletion of short arm of chromosome 5; mental retardation, cry like a cat, relation w/ VSD
Marfan's AD, fibrillin defect in elastic tissue, Mitral valve prolapse w/ sudden death, dissection MCC of death, dislocated lens; homocystinuria is similar (AR disease; differences are mental Ret., vessel thrombosis from increase in homocyteine)
Von Hippel Lindau AD, cellular hemangioblastomas, pheochromocytoma, renal adenocarcinoma,
How do you calculate ion gap? AG=Na-(cl-HCO3)=12+/-4mEq/L
Acute transplant rejection w/in 3 months, due to type 4, CD8 cells, parenchymal damage and a smaller component due to vessel damage w/ fibrosis
What's the defect in a-thalassemia? a-globin gene mutations=>decrease a-globin syn
What's the defect in B-thal point mutations in splicing sites and promoter sequences
How do you dx B-thal? Electrophoresis, increase in HbA2
Beta-delta thalassemia Then you have HbF, because all you have left is alpha and gamma.
Meckle's diverticulum MCC of anemia in a new born
Treatment for Thalassemias? NOTHING. DONT give iron, it will iron-overload them b/c they have normal iron stores.
BASophilic stippling BASte the ox TAIL. Thalassemia, Anemia of chronic disease, Iron def, Lead poisoning.
What's the only metal that can deposit in the epiphesis of a kid? Lead
Abdominal colic w/ diarrhea Exposure to batteries=>lead poisoning
Why do you get neurologic problems in B12 def.? Proprionate metabolism. No B12, then you cant convert odd chain FAs into succinyl coA so they buildup and can't make myalin (mess-up posterior columns, and lateral cortical spinal tract). Have problems with proprioception etc.
Pt. w/ dementia. What do you need to R/O? Hypothyroidism and B12 deficiency
What deficiency do you have in Chrons disease (affecting terminal ileum)? Bile salt def and B12 def. b/c these are absorbed in the ileum.
Pernicious anemia parietal cells, atrophic gastritis in the body and fundus (where parietal cells are). And no acid which is risk for gastric cancer. Or if you can't cleave off R-factor=>pancreatitis. Tap worms who eats all the IF. Bacterial over-growth another cause.
First line tx for lead poisoning in Adults? Dimercaprol and EDTA
Tx for lead poisoning for kids? Succimer
Cause of normocytic anemia <3% corrected reticulocyte count in Kidney disease? Decrease EPO. so decrease in hematopoiesis
What will you see in the cells of Aplastic Anemia Normal cell morphology, but hypocellular bone marrow w/ fatty infiltration
Lesch Nyhan purine metabolism. MR, self mutilation, HTPRT deficient,
Name the 2 x-linked enzyme deficiencies: G6PD and Lesch Nyhan syndrome
Drugs that can cause hemolytic anemia in pts. w/G6PD? Dapsone, Primaquine, sulfa drugs. Fava beans can also do this.
What characteristic finding will you find in blood smear of pts with G6PD defieciency? Heinz bodies and bite cells
pt on penicillin and develops a rash type I hypersensitivity
Pts on penicillin and develops a hemolytic anemia Type II hypersensitivity
Test for Mononucleosis Heterophile antibody test
Monocytosis seen in chronic inflammatory condition
eosinophilia only invasive helminths, not pin-worms. Anything type I sensitivity. But not anything protozoa.
Lysosomal storage disease, mental retardation and buildup of Sphingomyline Niemann Pick
Pt. will a long smoking hx presents with RIGHT-sided face and RIGHT arm swelling and engorgement of subq vv on the RIGHT side of the neck. Which v is obstructed? Pt. probably has an apical lung tumor or thrombotic occlusion that is obstructing the Right brachiocephalic v.
Gram - sepsis is caused by LPS from bac cells during division. What is the toxic component of LPS (since LPS is not actively secreted)? Lipid A is the toxic component=>activation of macrophages=>release of IL-1 and TNF-a=>septic shock, fever, HPTN, d, oliguria, vasc. compromise and DIC.
DM, necrolytic erythema and anemia Glucagonoma
Pt. w/ intractable diarrhea, metabolic acidosis, and hypokalemia VIPoma of the pancrease
34 yo female pt. has proteinuria and facial rash and complains of chest pain that radiates to neck and is improved with sitting up. Pericarditis.
What's the most common cause of retinitis in HIV pts? CMV. It affects pts w/ CD4+ count <50/mm3
What is the tx for an HIV pt with CMV retinitis? Ganciclovir
X-linked recessive, Factor 8 deficiency, and responds to tx w/ desmopressin...what is it? Hemophilia A
Autosomal Dominant, factor 8 deficiency and vWF def, tx of choice is desmopressin What is it? Von Willebrand's disease
Young Pt. presents with a DVT and has a family history of the same thing. What is it? Hereditary thrombosis syndrome leading to hypercoag. state
Anti-thrombin III def inherited def of anti-thrombin, reduced increase in PTT after admin. of heparin.
Young pt. comes in with a DVT and you put them on heparin but the PTT is NL. And so you increase the dose, but they still have a NL PTT. What is it? ATIII def
If you have a pt with the following, what does he have: Platelet count NL, BT increased, PT NL, and PTT increased? von Willbrands disease
PC decreased, BT increased, PT increased, and PTT inceased. WHat is it? DIC
If you have a platelet disorder, such as TTP/HUS, what will the PC and BT be? PT is decreased (remember its a platelet disorder) and BT will be increased b/c not enough platelets around to make plugs.
Pt has low Hb (10 Hb), should you transfuse the pt? No, only transfuse if the pt is having symptoms
Who is most likely to have anti-HLA antibodies and to develop febrile response to transfusion: Young kid 10yrs old, man, woman with one pregnancy or a woman with spontaneous abortion? Woman with spontaneous abortion
Do Petechea blanch when you push on it? NO
Pt has had a transfusion and has a certain level of Hb when they leave the hospital. Then a week later they get jaundice and a drop in the Hb level. What is it? Late Hemolytic transfusion reaction. Type II rxn.
What's the most common cause of jaundice in a newborn baby during the first 24 hrs of life? ABO incompatibility, not physiologic jaundice.
what causes petechiae? Thrombocytopenia or platelet dysfunction
You have a cross-section of a brain from a newborn baby who has Rb incompatibility with the mom. The brain has yellow color in it. What causes this? Erythroblastosis fetalis. And Kernicterus is the yellow stuff in the brain.
When would you see Hypersegmented neutrophils? Vit. B12 and folate deficiency (Megaloblastic anemia)
What are the causes of eosinophilia? Mnemonic=NAAP-C (likey,I'm going to take a little NAPcy zzzz). N=neoplasm, A=asthma, A=allergic process, P=parasites (invasive) and C=collagen vascular disease
Multople Myeloma involves which cell type? Plasma cells
Deficiency of GpIIb/IIIa? Glanzmann's thrombasthenia (it's a platelet disorder)
GpIb deficieny Bernard Soulier syndrome
In which condition would you see Bite cells? G6PD def
Which bone condition would lead to the formation of teardrop cells? Bone marrow infiltration. Goljan says its associated with Andenogenic Myeloid Metaplasia (Myelofibrosis).
Which pathologies would lead to the formation of target cells? HbC disease, Asplenia, Liver disease, Thalassemia. Mnemonic=HALT said the hunter to his target.
If you suspect a pt. has Autoimmune Hemolytic Anemia, What test should you order? DIRECT coombs test
Female PT. w/ lymphadenopathy in 2 different places: (1)anterior mediastinum (2)non-painful one above the diaphragm some where (maybe in the neck). Hodgkin's Lymphoma, Nodular Sclerosing
t(14,18) and associated with bcl-2 expession Follicular Lymphoma
t(8,14) and associated w/ c-myc gene Burkitt's Lymphoma
t(9,22) CML Pilideliphia CreaML cheese
t(15,17) M3 type of AML
t(11,22) Ewing sarcoma
t(11;14) Mantle cell lymphoma
What's the antidote for Heparin? Protamine sulfate
Turbidity in blood TGs, not due to cholesterol
Do you need to fast before you get a cholesterol and HDL test? NO, you need to fast when you test for TGs, becasue that comes from chylomicrons after you eat.
L. flank pain, hypotension, pulsatile mass Ruptured aortic aneurysm
Painful chest pain radiating to the back and CXR show mediastinal widening. Aortic Dissection.
Capillary skin papules found in AIDS pt, caused by Bartonella henselae infection. What is it? Bacillary angiomatosis
IV drug abuser has chronic HBV and a nodular inflammed mass on lower extremity and Hematuria. WHat does the pt have? Polyarteritis Nodosa
how do you close a PDA? Endomethacin
What does the murmur sound like in a pt. w/a patent ductus? "machine like"
What determines whether a baby with Tetralogy of Fallot will develop cyanosis or not? The degree of pulmonic stenosis determines the degree of cyanosis (most important determinant). Also good to have patent ductus and atrial defect.
Which virus is associated with PDA? Rubella
Nitroglycerin VENOdilator, which decreases preload
HydrAlAzine VASOdilator, which decreases afterload (aterial)
What time of splitting will you hear with Pulmonic stenosis? PS results in a delay in RV emptying, so you'll hear a delay in the pulmonic sound=Wide splitting
What time of splitting will you hear with ASD? ASD leads to L-to-R shunt and so get increase flow thru pulmonic valve. THerefore pulmonic valve delayed in closing=Fixed splitting.
What time of splitting will you hear with Aortic stenosis? Aortic stenosis causes a delay in LV emptying. So get the P2 sound coming before the A2 sound=Paradoxical splitting
What does T-wave inversion indicate on Electrocardiogram? Recent MI
What does a U-wave tell you on an ECG? It's caused by hypokalemia, bradycardia.
ECG tracing shows, irregularly irrgular pattern and no discrete P waves. A-fib
ECG tracing shows a "sawtooth" appearance; back-to-back atrial depolarization Atrial Flutter
PR interval prolonge >200msec on ECG tracing. 1st degree AV block
ECG tracing shows progressive lengthening of PR inerval until a beat is "dropped" Mobitz type I, 2nd degree AV block
ECG tracing shows dropped beats that are not preceeded by a change in the length of PR. Usually 2P waves to 1 QRS. Mobitz type II AV block
ECG tracing shows P waves with no relationship to QRS complex (A and V beat separately 3rd degree AV block
ECG tracing shows erratic rhythm with not waves. V-fib
Defect in either orotic acid phosphoribosyltransferase or orotidine 5'-phosphate decarboxylase. Orotic aciduria=inability to convert orotic acid to UMP
What's the end product of degredation of pyrimidine degradation? Urea
Adenosine deaminase deficiency SCID, excess ATP and dATP imbalance nucleotide pool. Messes with DNA synthesis. Get accumulation of adenosin (toxic to B and T cell).
Defective purine salvage owing to absence of HGPRT. Resulting in excess uric acid production. Lesch Nyhan syndrome
Hyperextensible skin, tendency to bleed, hypermobile joints. Type III collagen defect Ehlers-Danlos syndrome
Multipe fractures, blue sclera, hearing loss, dental imperfections. Type I collagen defect Osteogenesis imperfecta
Type IV collagen defect. Hereditary nephritis and deafness Alport's syndrome
Name the trinucleotide repeat expansion diseases TRY (trinuc) hunting for my (myotonic) FRIED EGG (X). Huntington's disease, myotonic dystrophy, Friedreich's ataxia, fragil X syndrome
what would the results of a pregnancy quad screen show for a down syndrome baby? decrease AFP, increase b-hcG, decrease estriol, increase inhibin A
What's the result of Vitamine E deficiency? Increase fragility or RBCs (hemolytic anemia), muscle weakness, posterior column and spinocerebellar tract demyelination.
What is one cause of an S4? cardiomyopathy, aortic stenosis, HTN and CAD
What is one cause of a pathologic S3? volume overload, decrease contratility, myocardial failure
What is one cause of increased jugular venous distention? Right sided heart failure, tricuspid stenosis, SVC obstruction, pericarditis
What is the most common cause of P2 being equal to or louder than A2? Pulmonary HTN
What is the most common cause of paradoxical splitting of the second heart sound? Left bundle branch block
Why are physiologic murmurs common during pregnancy? increased blood flow in normal vessels
Name the four defects in Tetralogy of Fallot. Right ventricular outflow obstruction (pulm stenosis) Right ventricular hypertrophy Ventricular septal defect Overriding aorta
Which enzymes require all of the following cofactors: B1, B2, B3, B5, lipoic acid? a-ketoglutarate dehydrogenase complex and pyruvate dehydrogenase complex
can muscle do gluconeogenesisi? No b/c they lack glucose-6-phosphate
Which fatty acids are able to undergo gluconeogenesis-even chains or odd chains? Odd chain FAs can because they have 1 propionyl-CoA which can enter the TCA whereas the even chains only yield acetyl-coA equivalents.
Which enzyme is deficient in Chronic granulomatous disease? NADPH oxidase of the neutrophil which is involved in respiratory burst.
Which catalase-positives species are Chronic granulomatous disease patients at risk for getting? S. aureus, Aspergillus
Which enzyme is deficient in Essential fructosuria? Fructokinas. Fructose will show up in the blood and urine
Describe how Fructose intolerance can cause hypoglycemia, jaundice, cirrhosis, and vomitting? What is the mechanism? Deficiency of Aldolase B causes accumulation of Fructose-1-phosphate will causes a decrease in available phosphate, which results in inhibition of glycogenolysis and gluconeogenesis.
Baby presents with infantile cataracts, failure to track onjects and to develop a social smile. You test the urine and there is galactose present. Which disorder does thie patient have? Galactokinase deficiency
Which organs/tissue are susceptible to sorbitol accumulation and damage? Schwann cells, lens, retina, and kidneys because they only have aldose reductase and not sorbitol dehydrogenase.
Created by: shelybel



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