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134 Cards in this Set
- Front
- Back
Rate determine enzymes: De novo pyrimidine synthesis
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Aspartate transcarbamylase (ATCase)
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Rate determine enzymes: De novo purine synthesis
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Glutamine-PRPP amidotransferase
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Rate determine enzymes: Glycolysis
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Phosphofructokinase-1 (PFK-1)
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Rate determine enzymes: Gluconeogenesis
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Pyruvate carboxylase
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Rate determine enzymes: TCA cycle
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Isocitrate dehydrogenase
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Rate determine enzymes: Glycogen synthesis
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Glycogen synthase
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Rate determine enzymes: Glycogenolysis
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Glycogen phosphorylase
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Rate determine enzymes: HMP shunt
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Glucose-6-phosphate dehydrogenase (G6PD)
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Rate determine enzymes: Fatty acid synthesis
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Acetyl-CoA carboxylase (ACC)
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Rate determine enzymes: Fatty acid oxidation
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Carnitine acyltransferase I
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Rate determine enzymes: Ketogenesis
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HMG-CoA synthase
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Rate determine enzymes: Cholesterol synthesis
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HMG-CoA reductase
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Rate determine enzymes: Heme synthesis
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ALA synthase
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Rate determine enzymes: Urea cycle
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Carbamoyl phosphate synthase I
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enzyme deficiency: Lead poisoning
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Ferrochelatase and δ-ALA dehydratase (Coproporphyrin and δ-ALA accumulate)
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enzyme deficiency: Acute intermittent porphyria
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Porphobilinogen deaminase (Porphobilinogen and δ-ALA accumulate)
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enzyme deficiency: Porphyria cutanea tarda
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Uroporphyrinogen decarboxylase (Uroporphyrin (tea-colored) accumulates)
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enzyme deficiency: Fabry’s disease
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α-galactosidase A (Ceramide trihexoside accumulates)
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enzyme deficiency: Gaucher’s disease
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β-glucocerebrosidase (Glucocerebroside accumulates)
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enzyme deficiency: Niemann-Pick disease
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Sphingomyelinase Sphingomyelin accumulates)
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enzyme deficiency: Tay-Sachs disease
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Hexosaminidase A (GM2 ganglioside accumulates)
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enzyme deficiency: Von Gierke’s disease
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Glucose-6-phosphatase
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enzyme deficiency: Pompe’s disease
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Lysosomal α-1,4-glucosidase (acid maltase)
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enzyme deficiency: Cori’s disease
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Debranching enzyme α-1,6-glucosidase
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enzyme deficiency: McArdle’s disease
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Skeletal muscle glycogen phosphorylase
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enzyme deficiency: Lesch-Nyhan syndrome
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HGPRT
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enzyme deficiency: Hyperammonemia (hereditary)
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ornithine transcarbamoylase deficiency
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enzyme deficiency: Galactosemia
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galactose-1-phosphate uridyltransferase (Galactose and galactitol accumulates)
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enzyme deficiency: Galactokinase deficiency
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galactosemia and galactosuria
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enzyme deficiency: Fructose intolerance
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aldolase B (Fructose-1-phosphate accumulates, inhibition of glycogenolysis and gluconeogenesis.)
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enzyme deficiency: Essential fructosuria
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fructokinase (fructose appears in blood and urine.)
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enzyme deficiency: I-cell disease
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failure of addition of mannose-6-phosphate to lysosome proteins.
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Thiamine is required as cofactor
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1. Transketolase; 2. Pyruvate dehydrogenase; 3. α-ketoglutarate dehydrogenase
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Biotin is required as cofactor
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1. Pyruvate → oxaloacetate (Pyruvate carboxylase) ; 2. Acetyl-CoA → malonyl-CoA; 3. Propionyl-CoA → methylmalonyl-CoA
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Kwashiorkor
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results from a protein-deficient MEAL: Malnutrition, Edema, Anemia, Liver (fatty).
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Drugs that act on microtubules
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1. Mebendazole/thiabendazole(antihelminthic); 2. Paclitaxel (Taxol)(anti–breast cancer); 3. Griseofulvin (antifungal); 4. Vincristine/vinblastine (anti-cancer); 5. Colchicine (anti-gout)
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brain lesion: Lentiform nucleus
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(globus pallidus and putamen) Wilson disease
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brain lesion: internal capsule
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perforating aeteris are obstructed (lacunar infarcts).
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brain lesion: thalamus
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thalamus syndrome: post-stroke pain
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exotoxin: Clottridium perfringens
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Lecithinase (Phospholipase C). Degrades membrane phospholipids (including lecithin). Causes gas gangrene
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exotoxin: C. diphtheriae
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AB-extotoxin. Ribosylates and inactivates elongation factor-2 (EF-2).
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exotoxin: Shigella, EHEC
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shiga toxin and shiga-like toxin. Cause inactivation of the 60s ribosomal subunits.
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exotoxin: Bordetella pertussis
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Pertussis toxin. AB exotoxin stimulates intracellular G-proteins to increase cAMP production, leading to increased insulin production, lymphocye and neutrophil dysfunction, and increased sensitivity to histamine.
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exotoxin: Group A streptococcal (GAS)
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antigenic mimicry. Cardiac myocytes share similar antigenic protein sequences, causes rheumatic fever.
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tricyclic antidepressants side effects
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1. anticholinergic (urinary retention); 2. antagonism of alpha-adrenergic receptors (orthostatic hypotension); 3. Cardiac arrhythmias (prolongation of QT interval); 4. blockade of histamine receptors (sedation).
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anatomic location: serotonin
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brainstem raphe nuclei
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anatomic location: NE
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nucleus ceruleus at dorsal pons.
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nucleus basalis of Meynert
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houses the cell bodies of cholingergic neurons. Alzheimer disease related.
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red nucleus
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at anterior midbrain. Participate in motor coordination of the upper extremities.
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caudate nucleus
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form striatum with putamen. Functions in motor activities. Huntington's disease related.
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HIV patients CMV infection
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retinitis. CD4+ cell<100 /mm3
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HIV patients Epstein-Barr virus (EBV) infection
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large cell, non-Hodgkin's lymphomas and oral hairy leukoplakia (OHL).
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HIV patients human papilloma virus (HPV) infection
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anal and cervical Squamous cell carcinoma. (type 16, 18, 31)
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Side effects: Chloramphenicol
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dose-dependent and dose-independent aplastic anemia
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Side effects: Clindamycin
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pseudomembranous colitis.
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Side effects: gentamycin
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vestibular arod cochlear ototoxicity, nephrotoxicity and neuromuscular paralysis (with large dose or intrapleural administration).
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Side effects:vancomycin
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Rapid administration of vancomycin can cause histamine relase, which results in flushing (red man syndrome"). dose-related ototoxicity.
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absolute contraindications to the use of OCPs
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1. prior history of thromboembolic event or storke. 2. History of an estrogen-dependent tumor; 3. Women >35 who smoke heavily; 4. hypertriglyceridemia; 5. Decompensated or active liver disease; 6. pregenacy.
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funtion of interferon in virus infection
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stimulating neighbouring cells to synthesize antiviral proteins that impair viral protein synthesis.
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impaired DNA repair disorders
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1. xeroderma pigmentosum (can repair UV light damaged DNA by excision); 2. Fanconi anemia (AR, hypersensitive to DNA cross-linking agents); 3. Bloom syndrome (AR, hypersensitivity to UV damage and chemotherapeutic agents); 4. Hereditary nonpolyposis colorectal cancer (HNPCC) is caused by a defective MSH2 gene leading to defective mismatch repair; 5. Ataxia telangiectasia.
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Virus with segmented genomes
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1. Reovirus (rotavirus, reovirus); 2. orthomyxovirus; 3. arenavirus (LMCV, Lassa fever encephalitis); 4. Bunyavirus;
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HIV pol gene
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encodes reverse transcriptase
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HIV env gene
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encodes gp160 which is cleaved into envelope glycoproteins gp120 and gp41.
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HIV gag gene
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encodes group-specific antigens in the virion core such as nucleocapsid proteins p24 and p7.
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HIV tat gene
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encodes a protein that transcriptionally activates other viral genes. It contributes to the virulence of HIV
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HIV rev gene
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encodes a protein that facilitates transport of unspliced viral transcripts out of the nucleus.
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HIV nef gene
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enchance viral replicaiton through downreculation of CD4 and MHC-I expression
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entacapone
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peripheral Catechol-O-methyl-transferase (COMT) inhibitor. Used with levodopa for Parkinson disease. Tolcapone is another COMT inhibitor with a central effect.
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mitochondria diseases
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Heteroplasmy in clinical variability. 1. Leber hereditary optic neuropathy, leads to bilateral vision loss. 2. Myoclonic epilepsy with ragged-red fibers: myoclonic seizures and myopathy associated with exercise. Skeletal muscle biopsy shows irregularly shaped muscle fibers (ragged red fibers). 3. Mitochondrial encephalomyopathy with lactic acidosis and stroke-like espisodes (MELAS).
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increase serum uric acid levels
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niacin, thiazides, cyclosporine, pyrazinamide
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durgs cause myopathy
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stains, fibrate, niacin, hydroxychloroquine, glucocorticoids, colchicine, interferon alpha, penicillamine
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ApoA-I
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Lecithin-cholesterol acyltransferase (LCAT), deficiencies result in low HDL and increased circulating free cholestrol levels.
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ApoB-48
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Chylomicron assembly and secretion by the intestine
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ApoB-100
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LDL particle uptake by extraheptic cells
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ApoC-II
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lipoprotein lipase activation. Deficiency results in hyperchylomicronemia
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ApoE-3 & -4
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VLDL and chylomicron remnant uptake by liver cells
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Patients in CGD are at increased risk for infection caused by
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S. aures, Pseudomonas cepacia (Burkholderia cepacia), Serratia marcescens, Nocardia species, Aspergillus Species.
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lab test: liver function
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prothrombin time, bilirubin, albumin, cholestrol
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lab test: structral integrity and cellur intactness of live
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transaminase (ALT, AST)
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lab test: biliary tract
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alkaline phosphatase, y-glutaryl transferase
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antiphospholipid antibody syndrome
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in SLE, due to lupus anticoagulant. With VDRL test positive. 1) venous thromboembolism; 2) arterial thromboembolism; 3) increase fetal loss.
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dopaminergic systems: Mesolimbic-mesocortical
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regulates behavior; schizophrenia
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dopaminergic systems: nigrostraital
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coordination of voluntary movement; Parkinsonism
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dopaminergic systems: Tuberoinfundibular
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controls prolactin secretion; hyperprolactinemia
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lab test: cryoglobulins
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HCV infection
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lab test: hemadsorption
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some influenz and parainfluenza viruses infection.
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lab test: Tzank smear
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HSV, VZV infection
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bacteria culture: Bordet-Gengou medium
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Bordetella pertussis
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bacteria culture: cysteine-tellurite medium
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Corynebacterium diphtheriae
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side effect: Gatifloxacin
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hypoglycemia
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E. Coli strain does not ferment sorbitol and does not produce glucuronidase
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O157:H7 Shig-like toxin producing E. Coli (EHEC) which can lead to HUS
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Bacteria that produce toxins capable of activating adenylate cyclase
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1. B. pertussis (Pertussis toxin); 2. B. anthracis (Edema toxin); 3. ETEC (Heat labile toxin); 4. Campylobacter jejuni (C. jejuni enerotoxin); 5. Bacillus cereus (Heart labile enterotoxin); 6. V. cholerae (Choleragen toxin).
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Bacteria that produce toxins capable of activating guanylate cyclase
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1. ETEC (Heat stable toxin); 2. Yersinia enterocolitica (Y. enterocolitica enerotoxin)
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Bacteria that produce toxins capable of inactivating elongation factor-2 (EF-2)
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1. Corynebacterium diphtheriae (Diphthera toxin); 2. Pseudomonas aeruginosa (Exotoxin A).
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Bacteria that produce toxins capable of disrupting cytoskeleton
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Clostridium difficile (Toxin B, Cytotoxin)
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diabetes, necrolytic erythema and anemia
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glucagonoma
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NMDA receptor antagonist
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Ketamine
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NMDA receptor angonist
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glutamate, involved in learning and memory
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bacterial infection leading to Guillain-Barré syndrome
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Campylobacter jejuni
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drug metabolization: phase II N-acetylation in the liver
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hydralazine, procainamide,
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drug metabolization: phase II liver sulfate conjugation
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phenol, chloramphenicol
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drug metabolization: liver hydroxylation (P450)
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pentobarbital
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drug metabolization: phase I liver hydrolysis
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procaine, lidocaine, aspirin
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drug metabolization: not metabolized
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chlorothiazide
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drug metabolization: plasma hydrolysis
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succinylcholine, tetracaine, remifentanil
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first generation antihistamine drugs
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hydroxyzine, promethazine, chlorpheniramine, diphenhydramine
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second generation antihistamine drugs
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fexofenadine,
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unequal crossover
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α-Thalassemia (deleted one or more α-globin genes from chromosome 16); Cri-du-chat syndrome (-5p)
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mutations in splice site
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β-thalassemia, Gaucher disease, Tay-Sachs
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nerve injury: shoulder dislocation or pressure on the floor of axilla
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radial nerve
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nerve injury: fracture of the shaft of the humerus
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radial nerve
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nerve injury: Carpal tunnel compression or wrist laceration or fracture of supracondylar humerus
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median nerve
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nerve injury: fracture of medial epicondyle
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ulnar nerve
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nerve injury: fracture of the surgical neck of the humerus or dislocation of the shoulder
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axillary nerve
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sulfonylureas 1st generation
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Tolbutamide, Chlorpropamide
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sulfonylureas 2st generation
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Glyburide, Glimepiride, Glipizide
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Biguanides
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metformin
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Glitazones/thiazolidinediones
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Pioglitazone, Rosiglitazone
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positively charged AA
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Lysine (Lys), Arginine (Arg), Histidine (His)
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negatively charged AA
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Aspartate (Asp), Glutamate (Glu)
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Polar, uncharged R groups AA
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Serine (Ser), Threonine (Thr), Cysteine (Cys), Methionine (Met), Asparagine (Asn), Glutamine (Gln)
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Nonpolar, Aliphatic Side chains AA
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Glycine (Gly), Alanine (Ala), Valine (Val), Leucine (Leu), Isoleucine (Ile), Proline (Pro)
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Aromatic Side chains AA
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Phenylalanine (Phe), Tyrosine (Tyr), Tryptophan (Trp)
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teratogens: alkylating agents
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absence of digits, multiple anomalies
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teratogens: Cocaine
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Abnormal fetal development and fetal addiction; placental abruption
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teratogens: Lithium
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Ebstein's anomaly (atrialized right ventricle)
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teratogens: Maternal diabetes
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Caudal regression syndrome (anal atresia to sirenomelia)
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teratogens: Thalidomide
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Limb defects ("flipper" limbs)
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teratogens: Valproate
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lnhibition of intestinal folate absorption
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teratogens: Vitamin A (excess)
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Extremely high risk for spontaneous abortions and birth defects (cleft palale, cardiac abnormalities)
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Causes of papillary necrosis (kidney)
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1. Sickle cell disease or trait; 2. Analgesic nephropathy (phenacetin); 3. Diabetes melitus; 4. Acute peyilonephritis and urinary tract obstruction.
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paralysis of upward gaze
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Parinaud syndrome (dorsal midbrain syndrome)
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new anitconvulsants for refractory partial seizures
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Tiagabine, Toprimate, Vigabatrin, Gabapetin
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acute dystonia
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develops abruptly 4h-4d after antipsychotic medication. oculogric crisis, muscle spasms or stiffness...; treat with antihistamine or anticholinergics
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