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  • 1
    Electronic Resource
    Electronic Resource
    Übermäßiges Wachstum und Entwicklungsverzögerung assoziiert mit chromosomaler Deletion 22q13 (1997)
    Springer
    Monatsschrift Kinderheilkunde 145 (1997), S. 892-896 
    Details
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Chromosomale Deletion 22q ; Sotos-like-Syndrom ; Key words Chromosome deletion 22q ; Overgrowth syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Of the distinct syndromes and associations featuring overgrowth, some still await further characterization. Major distinguishing marks between these overgrowth disorders include craniofacial abnormalities, statomotoric and mental retardation, and muscular hypotonia. We describe a 3-year-old girl with tall stature, facial dysmorphy, severe mental retardation, and an interstitial deletion of the long arm of chromosome 22/del(22)(q13.1;q13.33). The chromosome 22q13 deletion syndrome was only recently reported by Nesslinger et al. [1] as a new nosologic entity. Discussion: It is assumed that there is a growth gene at the chromosome 22q deletion.
    Notes: Zusammenfassung Wir berichten über ein 3jähriges Mädchen, das wegen statomotorischer und mentaler Retardierung, generalisierter Muskelhypotonie und übermäßigem Wachstum zur klinisch-genetischen Diagnostik kam. Zytogenetisch wurde eine De-novo-Deletion 22q13 festgestellt. In der Literatur wurden 7 Patienten mit einem ähnlichen Phänotyp beschrieben. Diskussion: Es ist zu vermuten, daß im Deletionsintervall 22q ein Wachstumsgen liegt.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001120050191
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  • 2
    Electronic Resource
    Electronic Resource
    Isodizentrisches Extrachromosom 22q11 in einer Familie mit Hypoparathyreoidismus, sensorineuraler Schwerhörigkeit und Nierendysplasie (1998)
    Springer
    Monatsschrift Kinderheilkunde 146 (1998), S. 1034-1038 
    Details
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Hypoparathyreoidismus ; Sensorineurale Schwerhörigkeit ; Renale Dysplasie ; Überzähliges Markerchromosom ; Dizentrisches Chromosom 22 ; Key words Hypoparathyroidism ; Sensorineural deafness ; Renal dysplasia ; Supernumerary marker chromosome ; Dicentric chromosome 22
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary The association of congenital hypoparathyroidism, sensorineural deafness and renal dysplasia has been listed as a rare autosomal dominant disorder (MIM 146255) with variable expressivity. We report on a new family with hypoparathyroidism causing tetanic spasms in the father but not in his son; both father and son had a non-progressive sensorineural hearing deficit for high frequencies since early childhood; there was chronic, compensated renal insufficiency in the father, and severe renal dysplasia causing renal failure from the first year of life in the son. Interestingly, father and son had a supernumerary marker chromosome identified by FISH as a dicentric chromosome 22q11. The marker had arisen de novo in the father and was not present in any other family member except for his son. Discussion: This is the first case of a dic(22)(q11) extrachsomosome associated with hypoparathyroidism, sensorineural deafness, and renal dysplasia so far reported. Although we do not know which genes, if any, reside on the idic(22)(q11) of the propositi, a relationship between the extrachromosome and the phenotype must be considered.
    Notes: Zusammenfassung Die Assoziation von kongenitalen Hypoparathyreoidismus, sensorineuraler Schwerhörigkeit und Nierendysplasie ist ein autosomal-dominantes Krankheitsbild mit variabler Expressivität. Wir beschreiben eine Familie (Vater und Sohn), in welcher der Hypoparathyreoidismus beim Vater relativ spät erkannt wurde bzw. beim Sohn symptomlos blieb und die sensorineurale Hörstörung jeweils schon seit früher Kindheit bestand. Beim Vater besteht eine chronische Niereninsuffizienz im Stadium der Kompensation, der Sohn wurde bereits einseitig nephrektomiert. Zudem haben Vater und Sohn ein überzähliges Markerchromosom, welches molekularzytogenetisch als ein isodizentrisches Chromosom 22q11 identifiziert wurde. Die gesunden Familienmitglieder haben das Markerchromosom nicht. Diskussion: Wir vermuten, daß das Markerchromosom 22q11 eine Bedeutung für den Phänotyp haben könnte.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001120050359
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  • 3
    Electronic Resource
    Electronic Resource
    Comparative assessment of clinical, roentgenological and anatomicopathological pulmonary findings in prematures and newborns (1975)
    Springer
    Pediatric radiology 3 (1975), S. 61-64 
    Details
    ISSN: 1432-1998
    Keywords: Neonate ; premature ; lung ; atelectasis ; respiratory distress syndrome ; pneumonia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The clinical, roentgenological and pathologicanatomical findings in 101 deceased premature and newborn infants, delivered in the years 1968–1971, have been studied by transferring the data on to punch cards for the purposes of comparison and analysis. A full or partial conformity of the X-Ray findings with the pathologic-anatomic diagnosis was found in 72 cases. It has been concluded that a distinct radiomorphologic substrate is often caused by a combination of various pathologic-anatomical changes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01000113
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  • 4
    Electronic Resource
    Electronic Resource
    Die Ausscheidung von freiem und glucuronosidkonjugiertem Epitestosteron und Testosteron bei Kindern (1968)
    Springer
    European journal of pediatrics 102 (1968), S. 341-345 
    Details
    ISSN: 1432-1076
    Keywords: Epitestosteron ; Testosteron ; Urinausscheidung ; Normalwerte ; Angeborenes adrenogenitales Syndrom ; Hypogenitalismus
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Bestimmung der Ausscheidung von Testosteron und Epitestosteron im Urin bei 42 gesunden Knaben und 23 gesunden Mädchen. Dabei zeigt sich bei beiden Geschlechtern ein mit dem Alter zunehmender Anstieg der beiden Steroide, bei Knaben stärker als bei Mädchen. Die Ausscheidungswerte der Erwachsenen werden in der Pubertät noch nicht erreicht.
    Notes: Summary 24-h urines of 65 healthy children were examined for epitestosterone and testosterone by the aid of a method using thin-layer chromatography and fluorometric end-determination. The testosterone as well as the epitestosterone excretion increases with the age of life, but for both steroids the values in girls are lower than the values in boys of the same age. Children in puberty do not reach the mean values of adults. Corresponding to the relatively high excretion of 17-ketosteroids in young babies their testosterone values are remarkably high too. A 3 year-old girl with a congenital adrenogenital syndrome excreted much more testosterone than healthy children of the same age. During treatment with human chorionic gonadotrophine the excretion of testosterone in a boy with hypogenitalism showed a significant increase.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00436762
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  • 5
    Electronic Resource
    Electronic Resource
    Calcium metabolism and growth during early treatment of children with X-linked hypophosphataemic rickets (1998)
    Springer
    European journal of pediatrics 157 (1998), S. 894-900 
    Details
    ISSN: 1432-1076
    Keywords: Key words Hypophosphataemic rickets ; Early treatment ; Growth ; Rickets
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract To evaluate the effect of early treatment on calcium metabolism and growth of infants with X-linked hypophosphataemic rickets (XLH), we enrolled eight infants (one boy) with XLH in a prospective study before and during combined treatment with 40–60 mg/kg per day phosphate and 20–40 ng/kg per day 1,25(OH)2D3 (calcitriol). The duration of treatment ranged from 12 to 68 months (median 27 months). We measured the height and several indices of calcium and bone metabolism before and at intervals of 6 weeks to 3 months thereafter during treatment. The diagnosis XLH was established between the age of 3 to 12 weeks by the detection of elevated alkaline phosphatase activities (n=8) and urinary hydroxyproline (n=7), whereas only five patients had also hypophosphataemia. Six of seven untreated patients had decreased 1,25(OH)2 vitamin D levels in serum. During treatment alkaline phosphatase and hydroxyproline decreased to normal or slightly elevated levels, whereas serum phosphate remained below the normal range. Several patients treated with more than 40–50 mg/kg per day phosphate developed secondary hyperparathyroidism. One patient receiving a low dose of 20 ng/kg per day calcitriol had prolonged radiological and biochemical signs of rickets and growth delay. The other patients presented with no or only slightly transient signs of rickets. Three patients developed moderate nephrocalcinosis. The statural growth rate decreased slightly below 2 SDs without a further decrease in two patients and remained within the normal range in the other patients. Only four patients developed moderate leg deformities. Conclusions Early treatment with calcitriol at a daily dose of at least 30–40 ng/kg and phosphate at a daily dose of maximal 40–50 mg/kg improves mineral metabolism and seems to obviate severe growth delay and leg deformities.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050962
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  • 6
    Electronic Resource
    Electronic Resource
    Beitrag zum metaphysär dysostotischen Minderwuchs (1968)
    Springer
    European journal of pediatrics 103 (1968), S. 73-80 
    Details
    ISSN: 1432-1076
    Keywords: Metaphysäre Dysostosen ; Dysostotischer Minderwuchs
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Die bisher beschriebenen metaphysären Dysostosen wurden nach klinisch-morphologischen und genetischen Gesichtspunkten geordnet und eine sporadisch aufgetretene metaphysäre Dysostose vom Typ Schmid kasuistisch mitgeteilt.
    Notes: Summary Report of a sporadic case of metaphyseal dysotosis of the type described by Schmid. The 12 year old boy had been treated without benefit since infancy under the false diagnosis of rickets with vitamin D2 preparations. His main symptoms were reduced stature, bowed legs, and a waddling gait. Roentgenography demonstrated marked changes in both femoral and tibial metaphyses. Blood chemistry showed normal values of calcium, phosphorus, and alkaline phosphatase. The recent literature is reviewed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00476699
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