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  • 1
    Electronic Resource
    Electronic Resource
    Smith-Lemli-Opitz-Syndrom Stoffwechseldefekt der Cholesterolbiosynthese als Ursache eines häufigen Fehlbildungssyndroms* (1997)
    Springer
    Monatsschrift Kinderheilkunde 145 (1997), S. 806-809 
    Details
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Smith-Lemli-Opitz-Syndrom ; Cholesterolbiosynthesedefekte ; 7-Dehydrocholesterol ; Key words Smith-Lemli-Opitz syndrome ; Inborn error in cholesterol biosynthesis ; 7-Dehydrocholesterol
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary This report presents two patients with Smith-Lemli-Opitz syndrome of different severity. The Smith-Lemli-Opitz syndrome is an autosomal recessively inherited metabolic disorder characterized by failure to thrive, neurologic dysfunction, facial dysmorphism, skeletal and organ malformations. Recently, the Smith-Lemli-Opitz syndrome was shown to be due to an inborn error of cholesterol biosynthesis diagnosable by markedly elevated levels of serum 7-dehydrocholesterol. There is a wide variability in the clinical presentation and some patients may present with only mild abnormalities. Discussion: The possibility of the diagnosis of a Smith-Lemli-Opitz syndrome should be included in the differential diagnosis of patients with failure to thrive and developmental retardation.
    Notes: Zusammenfassung Wir berichten über 2 Patientinnen mit unterschiedlich schwerer Ausprägung eines biochemisch gesicherten Smith-Lemli-Opitz-Syndroms, einer autosomal-rezessiv vererbten Stoffwechselerkrankung, die durch eine schwere Gedeihstörung, eine psychomotorische Retardierung, kraniofaziale Dysmorphien, Skelett- und Organfehlbildungen charakterisiert ist. Pathophysiologisch liegt ein Defekt in der Cholesterolbiosynthese zugrunde. Seit kurzem kann die Diagnose über den Nachweis eines erhöhten 7-Dehydrocholesterols im Serum gesichert werden. Die Symptome können variabel ausgeprägt sein, und insbesondere milde Formen präsentieren sich häufig unspezifisch. Diskussion: Bei Gedeihstörung und Entwicklungsverzögerungen unklarer Ursache sollte ein Smith-Lemli-Opitz-Syndrom in die differentialdiagnostischen Überlegungen einbezogen werden.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001120050181
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  • 2
    Electronic Resource
    Electronic Resource
    Ethanol-induced apoptotic neurodegeneration in the developing brain (2000)
    Springer
    Apoptosis 5 (2000), S. 515-521 
    Details
    ISSN: 1573-675X
    Keywords: anesthetics ; apoptosis ; barbiturates ; benzodiazepines ; ethanol ; GABAA receptors ; ketamine ; NMDA receptors ; phencyclidine ; synaptogenesis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract It has been known for three decades that ethanol, the most widely abused drug in the world, has deleterious effects on the developing human brain, but progress has been slow in developing animal models for studying this problem, and the underlying mechanisms have remained elusive. Recently, we have shown that during the synaptogenesis period, also known as the brain growth spurt period, ethanol has the potential to trigger massive neuronal suicide in the in vivo mammalian brain. The brain growth spurt period in humans spans the last trimester of pregnancy and first several years after birth. The NMDA antagonist and GABAmimetic properties of ethanol may be responsible for its apoptogenic action, in that other drugs with either NMDA antagonist or GABAmimetic actions also trigger apoptotic neurodegeneration in the developing brain. Our findings provide a likely explanation for the reduced brain mass and neurobehavioral disturbances associated with the human fetal alcohol syndrome. Furthermore, since NMDA antagonist and GABAmimetic drugs are sometimes abused by pregnant women and also are used as anticonvulsants, sedatives or anesthetics in pediatric medicine, our findings raise several complex drug safety issues. In addition, the observation that ethanol and several other drugs trigger massive neuronal apoptosis in the developing brain provides an unprecedented opportunity to study both neuropathological aspects and molecular mechanisms of apoptotic neurodegeneration in the in vivo mammalian brain.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1009685428847
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    Paper (German National Licenses)
    Fulltext
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