Biochemistry and Genetics Flash Cards - download pdf or read online

By Suzanne Baron

Clinical circumstances supply entire, concise assurance of the biochemical and genetic illnesses proven at the USMLE Step 1 and in easy technological know-how courses.

  • A robust specialize in the scientific elements of biochemical and genetic affliction
  • Emphasizes boardrelevant insurance
  • Easily examine and distinction ailments
  • Each disease-specific card encompasses a medical vignette
  • Important ailment proof are highlighted for speedy review

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A series of initial laboratory studies reveal mild hypoglycemia, mildly elevated liver enzymes, and mild hyperlipidemia. You explain to the mother that you suspect that her daughter has a deficiency of a specific enzyme that is involved in glycogen metabolism, and you reassure her that this abnormality will likely resolve by puberty. Liver Phosphorylase Deficiency (Hers Disease) (Type VI) A 3-month-old girl is brought to your pediatric clinic because she is not feeding well and has poor weight gain.

Abbreviations 1,2-DAG: 1,2-diacylglycerol 2,3-BPG: 2,3-bisphosphoglycerate ॅ-t: ॅ-thalassemias ॆ-t: ॆ-thalassemias ABG: arterial blood gas AC: adenylate cyclase ACE: angiotensin-converting-enzyme ACTH: adrenocorticotropic hormone ADA: adenosine deaminase ADP: adenosine diphosphate ALA: aminolevulinic acid ALL: acute lymphoblastic leukemia ALT: alanine aminotransferase AMP: adenosine monophosphate Apo: apoprotein ATP: adenosine triphosphate AST: aspartate aminotransferase ATP: adenosine triphosphate AUG: adenine uracil guanine BAL: British AntiLewisite, dimercaprol BCKD: branched-chain ॅ-ketoacid dehydrogenase BSS: Bernard-Soulier syndrome Btk: Bruton tyrosine kinase BUN: blood urea nitrogen CAG: cytosine adenine guanine cAMP: cyclic adenosine monophosphate CBC: complete blood count CDP: cytidine diphosphate CFTR: cystic fibrosis transmembrane conductor regulator CGG: cytosine guanine guanine CHF: congestive heart failure Chr: chromosome Cl舑: chloride ion CMT: Charcot-Marie-Tooth (disease) CNS: central nervous system CoA: coenzyme A CO PRO: coproporphyrinogen CT: computed tomography CTG: cytosine thymidine guanine CTP: cytosine-5艂-triphosphate dADP: deoxyadenosine diphosphate dATP: deoxyadenosine triphosphate dCDP: deoxycytidine diphosphate dGDP: deoxyguanosine diphosphate DHEA: dehydroepiandrosterone DHT: dihydrotestosterone DMD: Duchenne muscular dystrophy DNA: deoxyribonucleic acid DNAO: DNA polymerase DNAP: DNA polymerase DOPA: dihydroxyphenylalanine dTMP: deoxythymidylate DTRs: deep tendon reflexes dUDP: deoxyuridine 5艂-diphosphate dUMP: deoxyuridylate ECG: electrocardiogram EDS: Ehlers-Danlos syndrome ESR: erythrocyte sedimentation rate ESRD: end-stage renal disease F1,6BP: fructose 1,6 bisphosphate F6P: fructose-6-phosphate FAD: flavin adenine dinucleotide FAMN: flavin adenine mononucleotide FEP: free erythrocyte protoporphyrin FEV1 forced expiratory volume in 1 second FGFR3: fibroblast growth factor receptor 3 FMN: flavin mononucleotide FMR-1: familial mental retardation FSH: follicle-stimulating hormone FVC: functional vital capacity G3P: glyceraldehyde-3-phosphate G6P: glucose-6-phosphate G6PD: glucose-6-phosphate dehydrogenase GAA: guanine adenine adenine GAG: glycosaminoglycan G-CSF: granulocyte colony-stimulating factor FGFR3: fibroblast growth factor receptor 3 GDP: guanosine diphosphate GFR: glomerular filtration rate GI: gastrointestinal GMP: guanosine monophosphate GT: glanzmann thrombasthenia GTP: guanosine triphosphate HD: Huntington disease HDL: high-density lipoprotein Hgb: hemoglobin HGPRT: hypoxanthine-guanine phosphoribosyltransferase HIV: human immunodeficiency virus HMG-CoA: 5-hydroxy-3-methylglutaryl coenzyme A HMP: hexose monophosphate IBD: inflammatory bowel disease IDL: intermediate-density lipoprotein IMP: inosine monophosphate IV: intravenous IVP: intravenous pyelogram KUB: kidneys, ureter, bladder (x-ray) LDL: low-density lipoprotein LFTs: liver function tests LH: luteinizing hormone LHON: Leber hereditary optic neuropathy LPL: low-density lipoprotein MCHC: mean corpuscular hemoglobin concentration MCV: mean corpuscular volume MELAS: mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes MEN: multiple endocrine neoplasia MERRF: myoclonic epilepsy with ragged red fibers MI: myocardial infarction MRI: magnetic resonance imaging mRNA: messenger RNA mtDNA: mitochondrial DNA MTP: metatarsophalangeal NAD: nicotinamide adenine dinucleotide NADP: nicotinamide adenine dinucleotide phosphate NADPH: nicotinamide adenine dinucleotide phosphate hydrogen NF1: neurofibromatosis 1 NPD: Niemann-Pick disease NPTHM: N5-methyl tetrahydrofolate homocysteine methyltransferase NSAID: nonsteroidal anti-inflammatory drug OMP: orotidine-5艂-monophosphate PBG: porphobilinogen PPD: purified protein derivative PRPP: phosphoribosylpyrophosphate PT: prothrombin time PTH: parathyroid hormone PTT: partial thromboplastin time RBC: red blood cell RFLP: restriction fragment length polymorphism RNA: ribonucleic acid RNAP: RNA polymerase rRNA: ribosomal ribonucleic acid RUQ: right upper quadrant SAM: S-adenosyimethionine SCID: severe combined immunodeficiency SSB: single-strand DNA binding TB: tuberculosis TGF-ॆ: tissue growth factor ॆ TIBC: total iron-binding capacity TLC: total lung capacity TMP-SMX: trimethoprim-sulfamethoxazole TPP: thiamine pyrophosphate TTP: thymidine triphosphate tRNA: transfer ribonucleic acid UA: urinalysis UDP: uridine 5艂-diphosphate UDPGT: uridine diphosphoglucuronosyl transferase UMP: uridine-5艂-monophosphate URO: uroporphyrinogen UTI: urinary tract infection UTP: uracil-5艂-triphosphate UV: ultraviolet VLDL: very-low-density lipoprotein VMA: vanillylmandelic acid vWF: von Willebrand factor WAS: Wiskott-Aldrich syndrome XR: x-ray 1 CELLULAR ENERGY GENERAL CONCEPTS Citric acid cycle Electron transport chain NADH shuttles CITRIC ACID CYCLE The citric acid cycle occurs in the mitochondrial matrix.

Sialidosis Š A 9-month-old girl is brought to your pediatric clinic by her parents, who noticed that she has been increasingly irritable. Her mother also tells you that she has noticed some stiff and jerky movements of the child舗s extremities. On physical examination, you discover that the patient is small for her age and has hyperactive deep tendon reflexes and marked hamstring rigidity. She does not have much of a startle reflex, suggesting possible diminished visual or hearing acuity. Her suck reflex is also quite weak.

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