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  • 1
    ISSN: 1432-1440
    Keywords: Noonan syndrome ; Turner phenotype ; Single gene mutation ; Atypical pulmonary stenosis ; Hypertrophic cardiomyopathy ; Cardiocutaneous syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The case of a 50-year-old patient with hypertrophic obstructive cardiomyopathy is reported. The patient demonstrated somatic signs of the Turner phenotype, but a cytogenetically normal karyotype was shown. These findings were compatible with the diagnosis of Noonan syndrome. The most commonly diagnosed cardiac disease in this syndrome is pulmonary stenosis, followed by hypertrophic cardiomyopathy. The patient's prognosis is limited by the natural history or the typical complications of the underlying cardiac lesion.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Pflügers Archiv 416 (1990), S. 207-209 
    ISSN: 1432-2013
    Keywords: Isolated cardiocytes ; Anoxia ; AP shortening ; K current ; Ca current
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Whole cell currents were measured in isolated cardiocytes of guinea pig under anoxic conditions (pO2 〈0.5 torr). After 2 to 32 (mean 11.2) minutes of anoxia, time independent outward currents developed gradually which had a linear current-voltage relation between -100 and +20 mV and reversed at the resting potential of the cells (-82 to -90 mV). After 20 to 170 (mean 38) seconds, the amplitude of these outward currents saturated (3.6±0.5 nA at +10 mV, n=23). Reoxygenation within one minute after the appearance of the first extra outward currents led in most cells (〉90%) to their complete disappearance in 2 to 4 (mean 2.87, n=15) seconds. Ca currents were not affected at the time when the first extra outward currents occurred. It is concluded that (i) the anoxia-induced outward current is carried by K+ ions probably through KATP channels which open at intracellular ATP concentrations below 1 mmol/l (Noma and Shibasaki 1985) and (ii) this degree of ATP depletion does not affect normal Ca channel function.
    Type of Medium: Electronic Resource
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