Mixed Block Notes 11 Flashcards
Xanthomas are most characteristic of
Hypercholesterol or Hypertriglyceride
Familial hypercholesterolemia etiology
LDL Receptor
Peutz-Jeghers mutation
Serine/Threonine kinase 11 (STK11) on 19
Peutz-Jeghers manifestations
Skin lesions within first few years, intestinal polyposis follows
Buccal mucosa pigmented lesions
Pathognomonic for Peutz-Jeghers
Histology of Rhabdomyoma
Fascicles of polygonal cells with vacuolated cytoplasm and peripherally placed nuclei
Where do Rhabodmyomas occur
Head and neck of younger males
Dermoepidermal junction autoantibodies to type VII collagen
Epidermolysis Bullosa Acquisita
Clomiphene is best used to
Achieve fertility in women with ovulatory failure who are normogonadotrophic, normoprolactinemic, euthyroid
hCG therapy can be used to trigger
ovulatory cascade in an oocyte donor when her follicles are deemed mature
HOCM murmur is louder/softer with
Louder with decreases in Preload or Afterload; Softer with increases
IgA deficiency can lead to incr incidence of
Atopic, Autoimmune disease
Excise RNA primers and replace with DNA
DNA Polymerase I
AFP is associated with what repro malignancy
Yolk Sac tumors
Classic AE’s with Prednisone
Avascular necrosis of femoral head, Insomina, Psych
Glyburide
Sulfonylurea
Cytoplasmic what accumulation is a hallmark of ischemic injury
Ca2+
Tamm-Horsfall
Exclusively secreted by renal tubular epithelial cells in ascending LOH (Prerenal azotemia and low urine flow rate –> Accumulation to form hyaline casts)
Findings in homocysteinuria
Marfanoid, Lens down and in, Thrombosis, Athersclerosis, Osteoporosis
Warfarin embryopathy
Midfacial hypoplasia, Chondrodysplasia punctata, Hemorrhage, Organ hypoplasia, CNS
Changing of pili in neisseria
Phase variation (on-off) and Antigenic variation
Complementation
Production of distinct phenotypic trait resulting from homozygous mutations in more than on egene
Important finding NOT found in McArdle’s
Hypoglycemia (liver glycogen phosphorylase intact)
Glycogen synthase deficiency
Infancy = Hypoglycemia, Ketosis, Metabolic acidosis, Growth delays
Effects of beta blocker on K
Hyperkalemia
EKG signs of hyperkalemia
Peaked T, Loss of p, Prolonged PR, Widen QRS, Slow HR
EKG signs of hypokalemia
QT prolongation, U waves, ST depression –> Torsades
EKG signs of Hypo vs Hypercalcemia
Hypo causes QT prolongation; Hyper causes QT shortening
In general, a medullary lesion would result in
Contralateral spastic paresis, Ipsilateral CN XII defect
Phenylephrine
Selective alpha 1 agonist
Dobutamine
Mostly Beta 1 agonist - little effects on PVR
Isoproterenol
Non-selective beta agonist; Incr HR/CO/PP, Decr PVR
Epinephrine effects on HR and PVR
Incr HR, Decr PVR
CAAT box
Promoter - binding site for RNA polymerase II
Promoters/Binding sites for RNA polymerase II
CAAT, TATA
Enhancers are unique in that
they can be located very far away
Sublimation
Converting unacceptable feelings or drives into socially acceptable ones
Hepatic sinusoidal endothelial cells are unique in that
Fenestrated, Lack BM
Stellate cells
Vit A storage; Diff into myofibroblast upon injury –> Fibrosis
Block 23S rRNA of 50S
Macrolides, Clindamycin
Inhibition of 50S peptidyltransferase
Chloramphenicol
Decreasing [Kin]
Increases likelihood of neuronal depolarization w/out altering AP amplitude
Increasing [Kin]
Hyperpolarize neuron without altering AP amplitude
Mechanism for age-related lactase deficiency
Decr gene expression
Cyclosporine MOA
Binds cyclophilin –> inhibits calcineurin –> Inhibit calcium-dependent promotion of IL2 transcription
Basiliximab, Daclizumab MOA
mAb that blocks IL-2R
Tacrolimus MOA
Binds FKBP –> inhibits calcineurin –> inhibit calcium-dependent promotion of IL-2 transcription
Sirolimus (Rapamycin) MOA
Binds FKBP –> Blocks mTOR –> Prevents IL-2 response
Tardive Dyskinesia mechanism
Upregulate D receptors; Concomitant decr in cholinergic activity in Striatum
The plateau phase of cardiomyocyte AP corresponds to
ST segment (isoelectric)
Virus that carries its own DNA-dep RNA polymerase
Pox
What can decrease glomerular capillary filtration coefficient
Chronic HTN, DM –> Drop in GFR
Calcipitriol
Vit D analog for treatment of Psoriasis (topically)
Antibiotic efflux pumps are found in what type of bugs
Typically gram negative
Orlistat MOA
Lipase inhibitor
McArdle’s disease severity
Typically begin in young adulthood –> Muscle cramps, Fatigue, Transient myoglobuinuria –> normal lifespan
Lipofuscin is produced when
ROS –> Membrane Lipids
Cholesterol Ester Storage disorder
Partial defect in lysosomal acid lipase –> Accumulation of cholesterol ester, TG’s –> Hepatic fibrosis, Premature atherosclerosis
Clinical manifestations of Cryptosporidium
Mild enterocolitis with water, non-bloody diarrhea
Toxoplasmosis in immunocompetent
Nonspecific –> Fever, headaches, myalgia, lymphadenitis
Nephrotic Syndrome in adults
Membranous Glomerulonephritis
Methenamine silver stain showing thickening of glomelar BM
Membranous Glomerulonephritis
CCB’s in pregnancy
Limb loss - decreased placental perfusion
BB’s in pregnancy
Generally safe
Incr in endothelium-bound LPL activity
Insulin resistance
Increased cholesteryl ester storage in hepatocytes and endothelial cells
Cholesteryl Ester Storage disease - Lysosomal acid lipase defect
Insulin effect on Adipocyte vs Endothelial LDLR’s
Upregulate on hepatocytes, Downregulate on endothelial cells
Complicated non-gonoccocal urethritis
Epididymitis –> 2 wks of doxy or 1 wk azithromycin
Probenicid and Penicillin
inhibits renal tubular secretion of penicillins, most cephalosporins,
Cilastatin and Imipenem
Prevent proximal tubular brush border hydrolysis of imipenem by dehydropeptidase
Stimultion of auricular branch of vagus nerve
Reflex coughing or vomitting
Bloom syndrome
Photosensitivity, Short stature, Erythema, Telangiectasias - Defect in DNA helicase gene – Predisposed to lymphoproliferative and gastrointestinal malignancies
ATM gene is important for
DNA repair following ionizing radiation - Telangiectasias in eyes and ears, Lymphoproliferative malignancies
Tumors in Li Fraumenia
Breast cancer, Soft tissue sarcoma
Location of Lynch syndrome polyps
proximal
Histology of Follicular Lymphoma
Effacement; Small cleaved cells (centrocytes), Larger non-cleaved cells w/ multiple nucleoli (centroblasts)
Presentation of Sporadic Burkitt’s
Ascites and abdominal mass from ileum, cecum, or mesentery
Manifestations of hyperestrogenism in cirrhosis
Spider angiomas, Palmar erythema, Dupuytren’s, Decr body hair
Niacin MOA
(1) Impair VLDL production; (2) Inhibit Hormone Sensitive Lipase –> Decr TG; (3) Incr HDL by limiting cholesterol transfer form HDL to VLDL, slowing HDL clearance
intestinal Kaposi
Hemorrhagic nodules by endoscopy
Most common cause of Restriction Fragment Length Polymorphism
SNPs
RNA virus that replicates in nucleus
Influenza
High blood ammonia and Increased urinary orotic acid
OTC deficiency (Increased Carbamoyl Phosphate shunted to Orotic Acid)
Uncal herniation findings
CNIII, Contralateral muscle paresis (cerebral peduncle)
Somatic Symptom Disorder vs Illness Anxiety Disorder
Minimal or no actual physical symptoms in Illness Anxiety
Pseudodementia
Cognitive dysfunction that occurs in patients with severe psych illness
Why hypoglycemia in MCAD
Acetyl-CoA is consumed by medium chain fatty acids that accumulate –> Low concentrations of AcetylCoA inhibit conversion of pyruvate to OAA (inhibiting gluconeogenesis
Anti-SRP antibodies
Autoimmune Myositis
MHC II pathway is particularly important for generating helper T response against
Extracellular and Intracellular membrane-bound pathogens
T lymphocyte antigen recognition is determied by
Specificity of TCR for both MHC variant allele and peptide fragment bound to it
Positive T lymphocyte selection
Thymic cortex - Responsible for generating T cells compatible with person’s HLA haplotype
Individuals with HLA haplotypes that cannot bind certain polypeptide fragments
will not be able to mount T cell dependent immune response against these antigens
Most common opportunistic viral infection affecting GI tract of HIV patients
CMV - Ulcers, Mucosal erosions, Large cells with basophilic intranuclear & intracytoplasmic inclusions
Biopsy in HIV Cryptosporidium diarrhea
Organism confined to microvilli - basophilic parasites attached to mucosal brush border
Microsporidium diarrhea in HIV
Distortion of villous architecture w/out inflammation; Small spores with diagonal or equatorial belt-like structure
MAC diarrhea in HIV
Necrotizing and Non-necrotizing granulomas; Acid fact staining bacilli
HIV protease cleaves
gag and pol products
Carboxyhemoglobin
HbCO –> Loss of cooperativity, Unable to unload O2
Sclerosing Adenosis
Incidental finding (rarely palpable mass) –> Slight incr risk, Must biopsy
Mammary duct ectasia
Skin retraction, Thick creamy or bloody discharge, Palpable periareolar mass
Fibroblasts in a cartwheel or storiform pattern
Dermatofibrosarcoma protuberans
Dysplastic Nevus syndrome
CDKN2A on 9p21
LV End systolic volume, End diastolic volume and pressure in exercise
End systolic volume decreased, End diastolic volume up, End diastolic pressure same
Metencephalon –>
Pons and Medulla
Three vs Five embryonic vesicles
Pros, Mes, Rhomb –> Tel, Di, Mes, Met, My
Short a-helix with leucine resides at every seventh position
Leucine zipper dimerization domain –> TF’s known as Basic Zipper Proteins
DNA-binding motifs
(1) Zinc finger; (2) Helix-loop-helix; (3) Leucine zipper dimerization domain
First reaction of Pyrimidine synthesis
Glutamine, CO2, 2 ATP –> Carbamoyl Phosphate in Cytosol
Peroxisome function
Lipid metabolism (beta oxidation), Oxidative reactions, Purine catabolism
Cellular location of G-6-Phosphatase
Smooth ER
CYP inhibition/induction effects on Warfarin
Inhibits incr Warfarin effect (decr inactivation)
2 most common sites for hypertension-related intracerebral hemorrhage
Thalamus, Putamen
Hyptertensive hemorrhage in pons
(1) Pinpoint pupils; (2) Loss of horizontal gaze; (3) Decerebrate posturing; (4) Coma
mechanisms of incr ICP in brain tumors
(1) Obstruction; (2) Disrupt BBB = vasogenic edema
Cutaneous findings in Reiter’s
Keratoderma blenorrhagica, Balanitis circinata
Causes of nephrogenic diabetes insipidus
(1) Hypercalcemia; (2) Hypokalemia; (3) Post-obstructive diuresis; (4) Lithium, Amph B, Gentamicin, Cisplatin
Eptifibatide
Gp Iib/IIIa inhibitor that inhibits platelet aggregation by binding fibrinogen site
Effect of CYP inhibitors/inducers of Clopidogrel
Must be activated, so inhibitors decr drug levels
