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  • Book
    Stephen H. Tsang, Taurn Sharma [editors].
    Summary: "This Atlas of Inherited Retinal Disorders provides a thorough overview of various inherited retinal dystrophies with emphasis on phenotype characteristics and how they are related to the most frequently encountered genes. It will also meet the hitherto unmet need of PhD students who would benefit from seeing the phenotypes of the genes they work on and study. Further, because it would help geneticists use and familiarize themselves with the candidate gene approach to test patients' genomes, enabling them to test more efficiently and cost-efficiently (as the cost of genetic testing is quite high and spiralling higher). This invaluable atlas is organized into eight sections starting with the basic knowledge on retinal imaging as an introduction to the subject matter, then diseases are listed according to their inheritance pattern while disorders with extraocular manifestations are grouped by their defining features. This structure will be intuitive to clinicians and students studying IRDs"--Publisher's description.

    Contents:
    Basic knowledge. Retinal histology and anatomical landmarks
    Fluorescein angiography
    Optical coherence tomography
    Fundus autofluorescence
    Electroretinography
    Electrooculography
    Glossary of relevant genetic and molecular/cell biology
    X-linked forms. X-linked retinitis pigmentosa
    X-linked choroideremia
    X-linked juvenile retinoschisis
    X-linked ocular albinism
    Progressive cone dystrophy and cone-rod dystrophy (XL, AD, and AR)
    Congenital stationary night blindness
    Blue cone monochromatism
    Autosomal dominant forms. Autosomal dominant retinitis pigmentosa
    Best vitelliform macular dystrophy
    Pattern dystrophy
    Doyne honeycomb retinal dystrophy (malattia leventinese, autosomal dominant drusen)
    Occult macular dystrophy
    Sorsby pseudoinflammatory fundus dystrophy
    North Carolina macular dystrophy
    Pigmented paravenous chorioretinal atrophy (PPCRA)
    Late-Onset Retinal Degeneration
    Autosomal Recessive Form. Rod Monochromatism (Achromatopsia)
    Retinitis pigmentosa (non-syndromic)
    Leber congenital amaurosis
    Stargardt disease
    Enhanced S-cone syndrome (Goldmann-Favre syndrome)
    Best vitelliform macular dystrophy
    Systemic disorders. Mitochondrial disorder: Kearns-Sayre syndrome
    Mitochondrial disorder: maternally inherited diabetes and deafness
    Ciliopathy: Usher syndrome
    Ciliopathy: Bardet-Biedl syndrome
    Ciliopathy: Senior-Løken syndrome
    Ciliopathy: Alström syndrome
    Ciliopathy: Sjögren-Larsson syndrome
    Inborn errors of metabolism: Gyrate atrophy
    Inborn errors of metabolism: pseudoxanthoma elasticum
    Inborn errors of metabolism: Refsum disease
    Inborn errors of metabolism: Bietti Crystalline dystrophy
    Extracellular matrix: Alport syndrome
    Phakomatoses. Von Hippel-Lindau disease
    Tuberous sclerosis
    Neurofibromatosis
    Phenocopies. Rubella retinopathy
    Syphilis
    Autoimmune retinopathy
    Drug-induced retinal toxicity
    Acute zonal occult outer retinopathy (AZOOR) and related diseases
    Diffuse unilateral subacute neuroretinitis (DUSN)
    Managing IRDs in clinics. A practical approach to retinal dystrophies
    Genetic testing for inherited retinal dystrophy: basic understanding.
    Digital Access Springer 2018
  • Article
    Fiedler H, Schäfer H, Köhler E, Knospe S, Hahn HJ, Ziegler B, Gottschling HD, Heinke P.
    Endokrinologie. 1977;70(3):301-20.
    Colony-bred sand rats were fed with rat pellet chow in restricted quantities or ad libitum for 8--10 or 28--31 weeks after weaning. The changes of glucose metabolism were characterized by an intraperitoneal glucose tolerance test. The daily food intake and the average weight gain differed only in the first 5--7 weeks of pellet nutrition. In the impaired glucose tolerance tests of all sand rats the high basal plasma IRI levels were not significantly increased by the grossly enhanced blood glucose concentrations. The insulin secretion of either acutely incubated or for 8 days cultivated isolated pancreatic islets, however, was stimulated already by low (1.7 and 5 mM) glucose concentrations in all diet groups. Otherwise the glucagon secretion of isolated islets was not suppressed by high glucose concentrations. No changes of insulin or glucagon contents of islets were found in the different diet groups. The adipocytes of all animals revealed a complete ineffectiveness of insulin on the glucose utilization to CO2 and triglycerides. The basal glucose conversion to CO2 and glycogen in skeletal muscle and the stimulatory potency of insulin was low and not distinctly different in all groups. In liver glycogen and triglyceride contents as well as gluconeogenic enzyme activities were not influenced by feeding of different quantities of pellet diet at the investigated time points. The time course of the metabolic and clinical alterations demonstrates that the peripheral organs become insensitive to insulin in the first weeks after weaning.
    Digital Access Access Options
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