CHAPTER 3 & 6 - hemorrhage & fetal diseases

Övningen är skapad 2019-05-12 av Deborahshako. Antal frågor: 43.




Välj frågor (43)

Vanligtvis används alla ord som finns i en övning när du förhör dig eller spelar spel. Här kan du välja om du enbart vill öva på ett urval av orden. Denna inställning påverkar både förhöret, spelen, och utskrifterna.

Alla Inga

  • 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

Alla Inga

Utdelad övning

https://glosor.eu/ovning/chapter-3-6-hemorrhage-fetal-diseases.9029902.html

Dela