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134 Cards in this Set

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