Comprehensive Basic Science Exam (CBSE) Review Set I

Chagas Disease - Caused by Trypanosoma cruzi parasite passed in the feces of Reduviidae/kissing bug Penetrates broken skin or intact mucous membranes forming a pseudocyst releasing inflammatory infiltrates into myocytes; stains with Giemsa & Wright Romana sign occurs when portal of entry is the conjunctiva or eyelid May resulting in: Enlarged heart- CHF, sudden cardiac arrest Enlarged esophagus- difficulty swallowing Enlarged colon- abdominal pain or constipation Treat with benznidazole or nifurtimox Monocytes - cell with half-moon shaped nucleus that participates in phagocytosis Chronic graft rejection - multifactorial but typically involves arteriosclerosis HLA-B27 - PAIR: Psoriasis Ankylosing spondylitis- chronic synovitis destroying cartilage typically in young men Inflammatory bowel dz- Crohn's & UC Reactive Arthritis- Reactive Arthritis - Arthritis as a reaction to a bacterial infection such as Campylobacter, Chlamydia, Salmonella, Shigella, or Ureaplasma. Associated with conjunctivitis & uveitis Gaucher (Type 1) - AR Lysosomal storage disease Accumulation of sphingolipid glucocerebroside Most common Wrinkled tissue paper I Cell disease - Failure of Golgi apparatus to phosphorylate mannose 6-phosphate the marker to export enzymes to lysosomes resulting in accumulation of lysosomal enzymes in serum Nitroblue tetrazolium test - Aqualitative test to determine defects in NADPH oxidase Negative: CGD Positive: Acute Hepatitis, Mono CGD (chronic granulomatous disease) - inability to produce NADPH oxidase; susceptible to Cat + organisms; elevated neutrophils w/ normal T cell Gp91 phox subunit: heme binding subunit of superoxide generating NADPH Treat with interferon gamma Clarithromycin (macrolide) - ADR of metallic taste & GI Codeine - ADR resp. depression, euphoria, & constipation Cyclobenzaprine - Structurally similar to TCAs w/ anticholinergic side effects used for relief of muscle spasms May exacerbate glaucoma Naproxen - ADR of GI & renal (in elderly) Timolol - Used in HTN & glaucoma; ADR of bradycardia & worsening asthma Bacterial vaginosis - Sloughed mucosal cells = clue cells Trichomoniasis - Cilated, motile trophozoites w/ corkscrew-like motility Autism - Lack of eye contact, verbal communication, & separation anxiety; repetitious behavior Emphysema - Decreased FEV1/FVC ratio, normal FVC; TLC, FRC, & RV increase Parathyroid hormone(PTH) vs phosphate in hypercalcemia - PTH: rapid & direct Phosphate: slow & indirect ANP: - Afib, Ch-1p, NPPA gene mutation causing binding interference,- decrease cGMP Failure of development of 3rd or 4th pharyngeal pouches - DiGeorge syndrome (CATCH 22): truncus arteriosus & agenesis of parathyroid glands May also be associated w/ failure of thymus to develop - T lymphocytes w/ CD3 marker Huntington disease - PCR is the most common method to est. # of CAGs Both the coding & template strands bind the forward & reverse primers on 3' end Pyrmidine Dimers - BRAF gain of function mutation causing covalant thymine (or Cystine) bonds normally repaired thru NER in the G1 phase by endonuclease recognition then excision (DNA polymerase then fills; ligase then reseals) Xeroderma pigmentosum - Mutation of NER endonuclease from UV radiation disrupting DNA replication due to the oligonucleotides remaining damaged DNA Polymerase I - Removal of both leading & lagging RNA primers 5' to 3' (unique) Proofreading of mismatch nucleotides via 3' to 5' exonuclease & elongation of lagging strand 5' to 3' (universal) Topoisomerase - Enzyme that functions in DNA replication, helping to relieve strain in the double helix ahead of the replication fork. Teniposide - Topoisomerase II inhibitor acting in the S phase & G2 phase: S phase: prevents proper unwinding of supercoils & reannealing of DNA G phase: Permanent breaks in both strands of DNA preventing transcription & repair inducing cell cycle arrest Cytarabine - Antimetabolite inhibiting DNA polymerase, arresting cells solely in S phase Fluoroquinolones ( -floxacin) - Bactercidal: direct inhibition of topoisomerase 2 & 4 halting DNA replication as 1st line treatment of uncomplicated pyelonephritis; older for gram negative & aerobic, newer more broad spectrum Contraindicated in LQTS with ADR of torn achilles Long QT syndrome - Rare inborn heart condition in which delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes and other life threatening arrhythmias. Prolongation of the QT interval is a diagnostic of the condition. KCNQ1 and KCNE1 Romano-Ward syndrome - AD inherited congenital long QT syndrome No deafness Increased risk for SCD due to Torsades (polymorphic ventiruclar tachycardia) Jervell and Lange-Nielsen syndrome - AR inherited congenital long QT syndrome with congenital sensoneural deafness