CHAPTER 3 & 6 - hemorrhage & fetal diseases

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  • PLEIOTROPY many phenotypic effects of a single gene mutation
  • GENETIC HETEROGENITY situation when mutations at several genetic loci lead to the same trait
  • POLYMORPHISM a genetic variant that has at least two alleles and occurs in at least 1% of the population
  • polyploidia multiples of haploid number
  • aneuploidia not exact multiple of n , n+1, n-1
  • mosaicism >2 populations of cells with different complements of chromosomes in the same individual
  • Translocation transfer of a part of one chromosome to antother
  • Isochromosomes the horizontal division of the centromere
  • Deletion loss of a portion of a chromosome
  • Inversion two intersitial breaks, the segment reunites after a complete turnaround
  • Klinefelter syndrome XXY, nondisjunction, small penis, no hairs, narrow shoulders, wide hips, hypogonadism, bad spermatogenesis, risk of breast and gonadal cancer
  • Turner's syndrome monosomy, 45X, mosaic, webbed neck, hypogonadism, ammenorhea, strea uterus,
  • point mutations substitution of a single nucleotide base ( sickle cell anemia)
  • "nonsense mutations" change of amino acid codon to a chein termination codon= no protein is formed
  • frameshift mutations insertion/deletion that alters the whole reading frame of DNA
  • trinucleotide repeat mutations amplification of a sequence of three nucleotides, mainly guanine and cytosine
  • epigenetic changes modulation of gene/protein expression by methylation ( silencing) of cytosine residues at gene promoters or by regulation of family of histone proteins
  • familial hypercholesterolemia autosomal dominat, muation of LDLR gene, poor synth. of LDL-rec/transport/LDL binding, acc. of LDL cholesterol in plasma, artherosclerosis occurance,
  • ADPKD 1/1000 infants, symptoms in 40 y/o, cysts in liver, pancreas, seminal vesicle, arachnoid membrane,
  • Neurofibromatosis (von recklinghause) 1/3000 infants, hyperactivity of RAS protein, incr. cell growth, lisch nodules, optic glioma, learning disability, fragile bones, scoliosis
  • Marfan syndrome FB1 gene mutation, fibrillin in microfibrillin defective, 80%familial, heart, skeleton, eyes, ciliary zonulae, ligaments, aorta defective, arachnodactyly, ectopia lentis
  • CYSTIC MEDIONECROSIS fragmentation of elastic fibers in the tunica media of aorta that predisposes to aortic dissection and aneurysmal dilation
  • Cystic fibrosis mutation of CFTR gene, loss of epitehelial Cl-channel protein, meconium ileus exocrine gland, repsiratory, GI, reproductive system problems
  • Alpha 1 antitrypsin deficency mutations in the serpina gene 1, encodes for protein which protects lungs from attack by eznyme neutrophil elastate, leads to COPD, liver cirrhosis
  • Phenylketonuria lack of PAH that converst phenyalanine to tyrosine, acc. of phenylalanine,
  • Galactosemia disorder of galactose metabolism
  • Lysosomal storage diseases Gaucher disease, Tay sachs disease, Fabry disease, Niemann-Pick diseases)- lack of a lysosomal enzyme leads to accumulation of insoluable metabolites within the lysosomes
  • Mucopolysacharidoses defective degradation of mucopolysacharides
  • Glycogen storage diseases deficiency of enzyme involved in glycogen synthesis or degradation
  • Duschene muscular dystophy 1/500, a protein that helps keep muscle cells membrane intact, caused by an absence of dystrophin,
  • Wilms tumor Common child tumor in kidney, associated w/ WAGR syndrome, Denys-drash, Beckwith-Wiedemann syndrome
  • Denys-Drash syndrome Denys-Drash syndrome
  • Beckwith-Wiedemann syndrome enlargement of individual organs or body segments
  • Connected w/ chronic congestion heart-failure cells (pulmonary), nutmeg liver (hepatic), cardiac cirrhosis
  • elephantiasis Filariasis
  • group of pathogens elicits cytopathic-cytoproliferative tissue viruses
  • scleroderma excessive depositions of collagen
  • Pulmonary infection, bulky &smelling feces, high sweat chloride levels, nutrient deficency? vitamin D
  • Minamata disease Mercury poisoning
  • Hyaline membrane disease can occur most likely among Infants born at less than 28 weeks of gestation
  • Most common tumor of infancy Hemangioma
  • most common germ cell tumor of infancy sacrococcygeal tumor
  • Homer- Wright pseudorosettes Neuroblastoma

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