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high-yield-RRG
| Question | Answer |
|---|---|
| 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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