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Dilated cardiomyopathy What other etiologies are involved Eccentric hypertrophy. Sacromeres added in series. Alcohol abuse Wet beriberi Doxorubicin Sarcoidosis Cocaine Coxsackie A
Peutz Jeghers syndrome What is the genetics? What is the presentation? Autosomal dominant disease Hamartomatous GI polyps — bowel obstruction Hyperpigmentation of mouth/ feet/ hands/ genitalia which present later on
Liposarcoma Mesenchymal Contains lipoblasts Malignant tumor of fat cells Scalloping of nuclear membrane due to shifting of lipids (not bound by membrane)
Chronic alcohol presentation in - mammillary bodies - thalamus Wernicke encephalopathy is atrophy of the mammillary bodies - triad of (ataxia, encephalopathy, occulomotor dysfunction <lateral rectus palsy, bilateral horizontal nystagmus ) Korakoff syndrome —>lesions in anterior and medial thalami.
Alcoholic cerebellar degeneration - cerebellar vermis atrophy Gait ataxia Truncal instability Postural tremors of fingers and hands
Purkinje cells of cerebellum Physiology Pathological presentations Inhibitory pathway Paraneoplastic cerebellar degeneration - Anti- Hu of small cell lung cancer - Anti- Yo of gynecologic and Brest cancers - Anti-Tr of Hodgkin lymphoma
Lithium Rx AVR Mood stabilizers - first like Rx for bipolar AVR - nephrogenic diabetes insipidus - impairs aquaporin 2 h20 channel I’m collecting ducts
Best heard at left upper sternal border. S2 heart sound Closure of Aortic and pulmonary valves
Hyper IgM syndrome CD 40 ligand deficiency Inability of T cells to activate B cells to class switch —> only IgM
X linked agammaglobulinemia < B cell count < globulins of all types Absence of lymphoid tissue
Common Variable immunodeficiency Normal B cell count Decrease Ig of all types
Primase RNA polymerase Synthesis of RNA primer
DNA POLYMERASE 1 Removes RNA primer Functions as DNA polymerase III in proof reading activity - 5’ to 3’ exonuclease activity
What is an autosomal dominant mutation of mismatch repair genes? What does it lead to? Lynch Syndrome (MSH2, MLH1, MSH6, PMS2) Micro satellites instabilities —> colon , ovarian endometrial cancers
What is the Analysis of venous blood draw after exercise/ stress induced test? ↑ HHb, ↑ HbCO2, ↑ RBC Cl-content, ↑ Plasma HCO3-
H20 + Co2 in RBC. enzyme carbonic anhydrase converts them immediately to carbonic acid (H2CO3). Carbonic acid then dissociates to H+ and HCO3- . HCO3- exits the RBC and enters the plasma through a bicarbonate-chloride carrier protein, and chloride enters the RBCs in exchange. The chloride content, therefore, is higher in the venous RBCs (called chloride shift)
The H+ that was formed from the dissociation of H2CO3 will add to Hgb (hemoglobin) and form HHb (deoxyhemoglobin, reduced hemoglobin).. The rest of CO2 that entered the RBCs will combine with Hgb at the N-terminal of the globin and form the compound carbaminohemoglobin (CO2Hb).
Febrile nonhemolytic reaction When does it occur? Why? - without hemolysis during or within 6 hours of blood transfusion. - Host Antibodies directed against WBC HLA from otherwise compatible donor or cytokines from storage of RBC
cholesteatoma abnormal growth of squamous epithelium (keratin) in the middle ear and mastoid a cholesteatoma when it enlarges to destroy the ossicles, leads to conductive hearing loss
Ouabain (a cardiac glycoside) inhibits by binding to K+ site. Na+-K+ ATPase
synthesis —translation of collagen α chains (preprocollagen) —usually Gly-X-Y (X and Y are proline or lysine) - in the RER
hydroxylation of specific proline and lysine residues. Requires vitamin C; deficiency scurvy in RER
glycosylation where? How? Defect? of pro-α-chain hydroxylysine residues --> formation of procollagen via hydrogen and disulfide bonds (triple helix of 3 collagen α chains) osteogenesis imperfecta.
exocytosis of procollagen into extracellular space
proteolytic processing — what defect? post translation cleavage of disulfide-rich terminal regions of procollagen --> insoluble tropocollagen. Problems with cleavage Ehlers-Danlos syndrome
cross linking - reinforcement by covalent lysine-hydroxylysine - cross-linkage (by copper-containing lysyl oxidase) to make collagen fibrils. Problems with cross-linking Ehlers-Danlos syndrome, Menkes disease.
mitochondria Fatty acid oxidation (β-oxidation), acetyl- CoA production, TCA cycle, oxidative phosphorylation, ketogenesis
Created by: beccao



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