UWSA #2 Flashcards
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?
Hepatocytes
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 courseofazithromycin
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)
Which type of mutation wont change the number of amino acids in a protein but can result in loss of function of an enzyme?
Point mutations –> Missense (seen in MCAD deficiency and beta-thalassemia)
Which susceptibility locus is associated with dysplastic nevus syndrome and on what chromosome; what’s its normal function?
- CDKN2A on chromosome 9p21
- Encodes p16 which negatively regulates CDK4 a regulator of the G1 –> S checkpoint
Which 2 major drug classes potentiate GABA channel-mediated increases in chloride conductance?
Benzodiazepines and Barbiturates
What does the embryonic diencephalon give rise to?
Thalamus and 3rd ventricle
What type of protein is characterized by abundant arginine and lysine residues containing a 30-amino-acid alpha-helical segment that consists of repeated leucine residues at every 7th position?
Leucine Zipper class of eukaryotic transcription factors
Where does de novo synthesis of purines and pyrimidines start within the cell and then where does it end up?
- Begins in the cytosol
- Synthesized purines/pyrimidines nucleotides are then used for DNA synthesis in the nucleus
What is contained within the aortic hiatus and the esophageal hiatus?
- Aortic: contains the aorta + thoracic duct + azygos vein
- Esophageal: contains the esophagus + vagus trunks
