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Flashcards in UWSA #2 Deck (37)
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Rheumatic fever is most commonly associated with what murmur and what does it sound like?

- Mitral stenosis

- Diastolic thrill palpable over the cardiac apex and a low-pitched, rumbling, mid-diastolic murmur heard best over the apex

- Best heard with patient in left lateral decubitus position


Peutz-Jeghers syndrome is an autosomal dominant condition caused by mutations in which gene and on what chromosome?

Serine/threonine kinase 11 (STK 11) on Cr. 19


Which type of benign tumor is characterized by broad fascicles of rounded fibroblasts with abundant cytoplasm and a significant surrounding collagenous matrix infiltrating adjacent soft tissue?

Desmoid Tumor


What will immunofluorescence show in Pemphigus Vulgaris vs. Bullous Pemphigoid?

- P.V. = IgG and C3 in a netlike or "chicken wire" pattern btw keratinocytes since this disease affects desmosomes

- B.P. = IgG along the basemement membrane since this disease affects hemidesmosomes


Alcoholic cerebellar degeneration is due to loss of Purkinje cells and is most prominently seen in which part?

Cerebellar Vermis


What is a common cause of brisk painless bleeding in child with Meckel Diverticulum?

Heterotropic gastric tissue (often Pancreatic) which can ulcerate and cause bleeding


CD40 ligand deficiency is also known as what?

Hyper-IgM Syndrome


Which prokaryotic enzyme with 5' to 3' exonuclease activity serves to remove RNA primers on the lagging strand and replace them with new DNA?

DNA polymerase I


Lynch Syndrome is an AD disorder caused by mutations in mismatch repair genes and is associated with what neoplasms?

- Colorectal cancer

- Endometrial cancer

- Ovarian cancer


In PCR, DNA polymerase adds new nucleotides in which direction on the elongating strand?

5' to 3' direction (letters B and C) in the image


What EKG findings will be seen with hypocalcemia vs. hypercalcemia?

- Hypocalcemia: causes QT prolongation

- Hypercalcemia: causes QT interval shortening and in severe causes T-wave flattening or inversion


Pinealomas may damage which region of the brainstem and cause what?

- Dorsal midbrain in the superior colliculus region

- Parinaud syndrome: upward gaze palsy + absent pupillary light reflex + impaired convergence


Which proliferating cells are the primary cell population within the nodules of a cirrhotic liver?



Which cell of the liver can differentiate into a myofibroblast upon injury to the liver and plays a large role in the production of fibrosis in cirrhosis?

Stellate (ito) cells


What is the only type of shock that has increased mixed venous oxygen saturation (MvO2) and decreased systemic vascular resistance (SVR)?

Septic Shock


What is the reason that some women can display disease manifestations of X-linked disorders (typically only seen in men)?

- Skewed X inactivation

- One X chromosome is normally inactivated in each somatic cell and the selection of the inactivated X chromosome is random


What will electron microscopy of Membranous Nephropathy show?

Dense, subepithelial deposits that have a "spike and dome" appearance


What's the venous drainage of the rectum below and above the dentate line?

- Above: superior rectal v. ---> inferior mesenteric v. ---> portal system

- Below: middle and inferior rectal v. --> internal iliac v. --> systemic circulation


What is the effect of insulin on the bifunctional PFK-2/F-2,6-BPase enzyme complex?

- Activates the PFK-2 domain, converting F-6-P --> F-2,6-BP

- F-2,6-BP activates PFK-1 which drives the cell toward glycolysis


What is the MOA of Danazol?

An androgen used to suppress FSH and LH release by the pituitary gland


What is the MOA of flutamide?

Anti-androgen that inhibits androgen uptake or the binding of androgen in tissues


What is the standard tx for Chlamydia trachomatis (nongonococcal) urethritis?

- Azithromycin (bacterial protein synthesis inhibitor; bind 23s rRNA of 50S ribosomal subunit and inhibit translocation

- Complicated infections (i.e, epididymitis) are tx with a 2-week course of doxycycline or a week-long course of azithromycin


What are the clinical findings of CYP17A1 deficiency?

- This is 17-hydroxylase deficiency

- Adolescent girl with persistent HTN and hypokalemia due to excess mineralocorticoids + cortisol deficiency


The ATM gene defective in Ataxia-telangiectasia is important for what?

DNA repair following ionizing radiation


What is considered a positive and negative test with an agglutination inhibition test for pregnancy?

- In the absence of agglutination the test is considered positive

- In the presence of agglutination the test is considered negative


When a stent is placed in a coronary artery what is the purpose of coating it with everolimus, sirolimus, or zotarolimus?

- Cytostatic drugs that inhibit mTOR, blocking the cell cycle btw G1 and S phase

- This reduces smooth muscle cell proliferation; preventing neointimal hyperplasia and stent restensosis


What is the inheritance pattern of ornithine transcarbamylase (OTC) deficiency?

X-linked (all other urea cycle disorders are AR)


Which step in collagen synthesis requires Vitamin C?

- Hydroxylation of the proline and lysine residues by prolyl hydroxylase and lysyl hydroxylase

- Essential for proper assembly of pro-alpha chains into triple helical procollagen

*All occuring in the RER*


What is the inheritance of MCAD deficiency?

Autosomal Recessive


What are 3 major disease manifestatons of Von Hippel-Lindau disease?

- Cerebellar and retinal hemangioblastomas

- Pheochromocytoma

- Renal cell carcinoma (clear cell type)