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  • 11
    Electronic Resource
    Electronic Resource
    Caffey disease responding to high-dose immunoglobulin (1988)
    Springer
    European journal of pediatrics 147 (1988), S. 443-444 
    Details
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00496434
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  • 12
    Electronic Resource
    Electronic Resource
    Coffin-siris syndrome with normal plasma biotinidase activity (1991)
    Springer
    European journal of pediatrics 150 (1991), S. 687-687 
    Details
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02072639
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  • 13
    Electronic Resource
    Electronic Resource
    Omphalocele in a newborn baby exposed to sodium valproate in utero (1995)
    Springer
    European journal of pediatrics 154 (1995), S. 220-221 
    Details
    ISSN: 1432-1076
    Keywords: Valproic acid ; Umbilical hernia ; Teratogens ; Pregnancy ; Newborn infant
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report on a newborn baby, exposed to valproic acid in utero, with the typical dysmorphic features of the fetal valproate syndrome and omphalocele. One identical case has already been reported after valproic acid exposure in utero. Conclusion Intra-uterine valproate exposure may be responsible for midline defects of the abdominal wall.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01954275
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  • 14
    Electronic Resource
    Electronic Resource
    Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 656-659 
    Details
    ISSN: 1432-1076
    Keywords: Key words Smith-Lemli-Opitz ; Lethal acrodysgenital syndrome ; Cholesterol metabolism ; 7-Dehydrocholesterol
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The Smith-Lemli-Opitz syndrome (SLO) is an autosomal recessive disorder characterized by dysmorphic facial features with abnormal limbs and genitalia. Two forms have been recognized based on clinical course and severity: the classical SLO (type I) and the lethal acrodysgenital syndrome (type II). Type I SLO has been recently ascribed to a defect in cholesterol synthesis. Taking advantage of a series of seven patients including five type I and two type II SLO, we describe micrognathia, severe microcephaly, major ante and post natal growth retardation and feeding difficulties as consistent features in the disease. In addition, we give support to the presence of abnormal cholesterol levels in the lethal acrodysgenital syndrome but find no correlation between plasma sterol levels and the clinical severity of the disease. Conclusion. The identification of the same biochemical defect in both types of Smith-Lemli-Opitz Syndrome suggests that despite major discrepancies in clinical course and severity, type I and type II SLO are probably allelic disorders.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01957147
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  • 15
    Electronic Resource
    Electronic Resource
    Omphalocele in a newborn baby exposed to sodium valproate in utero (1995)
    Springer
    European journal of pediatrics 154 (1995), S. 220-221 
    Details
    ISSN: 1432-1076
    Keywords: Key words Valproic acid ; Umbilical hernia ; Teratogens ; Pregnancy ; Newborn infant
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report on a newborn baby, exposed to valproic acid in utero, with the typical dysmorphic features of the fetal valproate syndrome and omphalocele. One identical case has already been reported after valproic acid exposure in utero. Conclusion Intra-uterine valproate exposure may be responsible for midline defects of the abdominal wall.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01954275
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    Paper (German National Licenses)
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  • 16
    Electronic Resource
    Electronic Resource
    Recurrent ctb(7)(q31.3) and possible laminin involvement in a neonatal cutis laxa with a Marfan phenotype (1991)
    Springer
    Human genetics 〈Berlin〉 87 (1991), S. 317-319 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A 6-week-old girl presented with cutis laxa, emphysema, heart anomalies and a diaphragmatic hernia. She died at 22 weeks. A recurrent ctb(7)(q31.3) was found and the laminin gene was suspected to be involved in the disease. Anti-human laminin antiserum showed that this protein was absent from the skin. This case, together with 17 other similar cases, could represent a new type of connective tissue disease.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00200911
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  • 17
    Electronic Resource
    Electronic Resource
    Blockade of insulin sensitive steady-state R-type Ca2+ channel by PN 200-110 in heart and vascular smooth muscle (1992)
    Springer
    Molecular and cellular biochemistry 117 (1992), S. 93-106 
    Details
    ISSN: 1573-4919
    Keywords: heart cells ; vascular smooth muscle ; Ca2+ channels ; insulin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology , Medicine
    Notes: Abstract The effect of high K− concentration, insulin and the L-type Ca2− channel blocker PN 200-110 on cytosolic intracellular free calcium ([Ca2+]i) was studied in single ventricular myocytes of 10-day-old embryonic chick heart, 20-week-old human fetus and rabbit aorta (VSM) single cells using the Ca2+-sensitive fluorescent dye, Fura-2 microfluorometry and digital imaging technique. Depolarization of the cell membrane of both heart and VSM cells with continuous superfusion of 30 mM [K+]o induced a rapid transient increase of [Ca2+]i that was followed by a sustained component. The early transient increase of [Ca2+]i by high [+]o was blocked by the L-type calcium channel antagonist nifedipine. However, the sustained component was found to be insensitive to this drug. PN 200-110 another L-type Ca2+ blocker was found to decrease both the early transient and the sustained increase of [Ca2+]i induced by depolarization of the cell membrane with high [K+]o. Insulin at a concentration of 40 to 80 μU/ml only produced a sustained increase of [Ca2+]i that was blocked by PN 200-110 or by lowering the extracellular Ca2+ concentration with EGTA. The sustained increase of [Ca2+], induced by high [K+]o or insulin was insensitive to metabolic inhibitors such as KCN and ouabain as well to the fast Na+ channel blocker, tetrodotoxin and to the increase of intracellular concentrations of cyclic nucleotides. Using the patch clamp technique, insulin did not affect the L-type Ca2+ current and the delayed outward K+ current. These results suggest that the early increase of (Ca2+]i during depolarization of the cell membrane of heart and VSM cells with high [K+]o is due to the opening and decay of an L-type Ca 2+ channel. However, the sustained increase of [Ca2+]i during a sustained depolarization is due to the activation of a resting (R) Ca 2+ channel that is insensitive to lowering [ATP]i and sensitive to insulin.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00230415
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  • 18
    Electronic Resource
    Electronic Resource
    Cryptosporidium oocysts in immunocompetent children: Epidemiologic investigations in the day-care centers of Poitiers, France (1987)
    Springer
    European journal of epidemiology 3 (1987), S. 381-385 
    Details
    ISSN: 1573-7284
    Keywords: Cryptosporidium ; Child ; Immunocompetent ; Healthy carrier ; Day-care centre
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The recent discovery of self-resolving Cryptosporidium infection in immunocompetent patients has aroused growing interest in this parasite, which has thus far been known to affect mainly immunodeficient individuals. Following the hospitalization of two children attending the same day-care center in February 1986 Cryptosporidium oocysts were found in the stools of one of them. This led to an epidemiological investigation to assess the frequency of Cryptosporidium oocysts, in the stools of children attending the 7 day-care centers in the city of Poitiers, France. Testing for Cryptosporidium oocysts was performed on formalinized stools, after smear staining by the modified Ziehl-Neelsen procedure. Each positive stool was also submitted to virological and bacteriological examination. Stool specimens from 235 children were studied: 9 (3.89/6) of them had Cryptosporidium oocysts in their stools. Four of the children had diarrhea, and 5 (2.2%) were asymptomatic. The existence of healthy carriers should lead to caution in the interpretation of stool parasitology.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00145649
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  • 19
    Electronic Resource
    Electronic Resource
    Integral equation method for the study of two dimensional stokes flow (1981)
    Springer
    Acta mechanica 41 (1981), S. 197-209 
    Details
    ISSN: 1619-6937
    Source: Springer Online Journal Archives 1860-2000
    Topics: Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics , Physics
    Description / Table of Contents: Zusammenfassung In der vorliegenden Arbeit wird eine Integralgleichungsmethode beschrieben, die auf ebene Stokes-Strömungen (schleichende Strömungen) einer inkompressiblen Newtonschen Flüssigkeit anwendbar ist. Diese neue Formulierung verwendet nur die in der Strömungsmechanik üblicherweise am Rand vorgegebenen physikalischen Größen. Nach einer Diskretisierung der Randintegrale zeigen wir die Leistungsfähigkeit unserer numerischen Methode, indem wir drei Probleme lösen.
    Notes: Summary An integral equation method applicable to two-dimensional Stokes flows for incompressible Newtonian isoviscous fluids is presented here. This new formulation only involves the physical quantities usually defined on the boundary in fluid mechanics. Through a discretization of boundary integral equations, we prove the numerical efficiency of our method by solving three problems.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01177347
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