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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Mathematische Annalen 93 (1925), S. 316-316 
    ISSN: 1432-1807
    Source: Springer Online Journal Archives 1860-2000
    Topics: Mathematics
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Archives of microbiology 63 (1968), S. 133-153 
    ISSN: 1432-072X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Description / Table of Contents: Zusammenfassung Bei verschiedenen Polystictus versicolor-Stämmen wurde die Bildung der Phenoloxydase und die Beeinflussung des Stoffwechsels durch Phenole untersucht. 1. In Gegenwart leicht verwertbarer Kohlenstoffquellen, wie Glucose, unterbleibt die Laccasebildung weitgehend. Zu Beginn der durch Nährstoffmangel ausgelösten autolytischen Prozesse kommt es zu einer Enzymbildung, die durch eine Verschlechterung der Energieversorgung induziert wird. 2. Durch Zusatz von Jodessigsäure (10-4 m) war es möglich, die Enzymproduktion auch in Gegenwart einer leicht verwertbaren Kohlenstoffquelle anzuregen. Höhere Konzentrationen unterbanden die Laccasebildung. 3. Die Zugabe von Entkopplern der oxydativen Phosphorylierung, wie z. B. 2,4-Dinitrophenol (10-4 m) oder Pentachlorphenol (10-4 m), führte ebenfalls zu einer starken Laccasebildung in Gegenwart leicht verwertbarer Kohlenstoffquellen. Einen ähnlich entkoppelnden Effekt hatten phenolische Spaltstücke des Lignins, Lignin und andere Substanzen, für die eine Förderung der Enzymbildung beschrieben ist. 4. Kurze Zeit nach der Zugabe phenolischer Ligninspaltstücke wurde Phosphat in die Kulturflüssigkeit ausgeschieden. Es konnte eine Verminderung der P/O-Quotienten bei verarmten Mycelien gemessen werden. Einige Tage nach der Zugabe wurde Phosphat wieder aufgenommen und die P/O-Quotienten erreichten nahezu den ursprünglichen Wert. Die Laccase spielt bei der Aufhebung der Hemmwirkung der phenolischen Ligninspaltstücke eine entscheidende Rolle. 5. Die durch Laccase gebildeten Umwandlungsprodukte der Phenole führten zu einem erhöhten Abbau der Glucose, einem verstärkten Phosphateinbau und in Gegenwart einer Stickstoffquelle zu einer Erhöhung des Myceltrockengewichtes.
    Notes: Summary The formation of phenolase and the influence of phenols on metabolism were investigated with different strains of Polystictus versicolor. 1. In the presence of carbon sources which like glucose can easily be metabolized, the formation of laccase was repressed. In the beginning of autolytic processes, caused by the lack of nutrient, the laccase formation was induced by a deficient energy supply. 2. By addition of iodoacetic acid (10-4 m) it was possible to stimulate the enzyme production in presence of an easily metabolized carbon source, too. Higher concentrations of iodoacetic acid inhibited the laccase production. 3. Addition of uncoupling agents of oxidative phosphorilation such as 2,4-dinitrophenol (10-4 m) or pentachlorophenol (10-4 m) caused a significant formation of laccase in presence of easily metabolized carbon sources, too. Phenolic lignin degradation products, lignin and other substances for which an increase of enzyme production is described, showed an uncoupling effect, too. 4. Shortly after the addition of phenolic lignin degradation products a phosphate excretion into the culture medium and a decrease of the P/O ratio in the mycelia was observed. A few days after the addition the phosphate was uptaken again and nearly the original values of the P/O ratios were obtained. For the elimination of the inhibitory action of the lignin degradation products the laccase is important. 5. The transformation products formed by the action of laccase on phenols caused an increase of glucose and phosphate assimilation. In the presence of a nitrogen source they cause an increase of the dry weight of the mycelium.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 150 (1990), S. 100-103 
    ISSN: 1432-1076
    Keywords: Townes-Brocks syndrome ; Imperforate anus ; Pre-axial hexadactyly ; Ear malformations ; VACTERL association
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 2-week-old male is presented with the clinical findings of the autosomal dominant Townes-Brocks syndrome in an otherwise unaffected family. The patient showed the full spectrum of anomalies including imperforate anus, perineal fistula, triphalangeal thumb, preaxial polydactyly, pre-auricular tags, and microtia. As there is considerable overlap with the VACTERL association, careful examination of the parents is necessary with regard to the genetic counselling risk.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 153 (1994), S. 446-450 
    ISSN: 1432-1076
    Keywords: Key words     Branchio-oto-renal syndrome ; Branchial cleft anomalies ; Renal malformations ; Ear malformations ; Deafness
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract      A five-generation family with the branchio-oto-renal (BOR) syndrome is reported demonstrating the great variability of this syndrome. Symptoms of the branchio-oto, branchio-oto-ureteral, and BOR syndromes are seen in different members of this family, suggesting that these are not real entities, but variants of the BOR syndrome.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-1076
    Keywords: Key words     Kabuki syndrome ; Niikawa-Kuroki syndrome ; Long palpebral fissures ; Fetal fingertip pads ; Kabuki make-up syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract      The Kabuki (Niikawa-Kuroki) syndrome was reported in 1981 by Niikawa et al. [19] and Kuroki et al. [15] in a total of ten unrelated Japanese children with a characteristic array of multiple congenital anomalies and mental retardation. The syndrome is characterized by a distinct face, mild to moderate mental retardation, postnatal growth retardation, dermatoglyphic and skeletal abnormalities. In Japan, the syndrome appears to have an incidence of about 1:32 000 newborns. Outside of Japan, a growing number of patients have been recognized. Clinical data are presented on 29 Caucasian patients; the patients were diagnosed over a relatively short period of time, indicating that the incidence outside of Japan is probably not lower than in Japan. A literature review of 89 patients (60 Japanese and 29 non-Japanese) is given. In 66% of the non-Japanese patients serious neurological problems were present, most notably hypotonia and feeding problems (which were not only related to the cleft palate); this was not reported in the Japanese patients. Inheritance is not clear. Most patients are isolated, sex-ratio is equal. The syndrome can be recognized in patients with cleft (lip/)palate, with mild to moderate developmental delay and in young children with hypotonia and/or feeding problems. In counselling parents, the designation "Kabuki" syndrome seems to be more appropriate than "Kabuki make-up" syndrome.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-1076
    Keywords: Kabuki syndrome Niikawa-Kuroki syndrome ; Long palpebral fissures ; Fetal fingertip pads ; Kabuki make-up syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The Kabuki (Niikawa-Kuroki) syndrome was reported in 1981 by Niikawa et al. [19] and Kuroki et al. [15] in a total of ten unrelated Japanese children with a characteristic array of multiple congenital anomalies and mental retardation. The syndrome is characterized by a distinct face, mild to moderate mental retardation, postnatal growth retardation, dermatoglyphic and skeletal abnormalities. In Japan, the syndrome appears to have an incidence of about 1∶32 000 newborns. Outside of Japan, a growing number of patients have been recognized. Clinical data are presented on 29 Caucasian patients; the patients were diagnosed over a relatively short period of time, indicating that the incidence outside of Japan is probably not lower than in Japan. A literature review of 89 patients (60 Japanese and 29 non-Japanese) is given. In 66% of the non-Japanese patients serious neurological problems were present, most notably hypotonia and feeding problems (which were not only related to the cleft palate); this was not reported in the Japanese patients. Inheritance is not clear. Most patients are isolated, sex-ratio is equal. The syndrome can be recognized in patients with cleft (lip/)palate, with mild to moderate developmental delay and in young children with hypotonia and/or feeding problems. In counselling parents, the designation “Kabuki” syndrome seems to be more appropriate than “Kabuki make-up” syndrome.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 153 (1994), S. 446-450 
    ISSN: 1432-1076
    Keywords: Branchio-oto-renal syndrome ; Branchial cleft anomalies ; Renal malformations Ear malformations ; Deafness
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A five-generation family with the branchio-oto-renal (BOR) syndrome is reported demonstrating the great variability of this syndrome. Symptoms of the branchio-oto, branchio-oto-ureteral, and BOR syndromes are seen in different members of this family, suggesting that these are not real entities, but variants of the BOR syndrome.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1432-1076
    Keywords: Key words Congenital microgastria  ;  Asplenia  ; Midline defect  ;  Axial mesodermal dysplasia spectrum ; VACTERL association
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  Microgastria is a rare malformation of the stomach always associated with variable patterns of malformations of the lung, heart, aortic arch, skeleton, and central nervous system. Many cases present with asplenia and hepatic symmetry as well as intestinal malrotation. We report a first case of a 4.5-year-old girl with congenital microgastria in association with growth hormone deficiency, diabetes insipidus, brachyoesophagus, hernia of the diaphragm, gastro-oesophageal reflux, intestinal malrotation, enlarged symmetrical liver, asplenia, as well as mental and statomotor retardation. Conclusion Congenital microgastria is always asso‐ciated with malformations of other organs. Patients at any age presenting one of the symptoms: failure to thrive, vomiting, asplenia, midline defects and parts of the VACTERL association should be carefully examined to exclude microgastria.
    Type of Medium: Electronic Resource
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  • 9
    facet.materialart.
    Unknown
    Berlin : Periodicals Archive Online (PAO)
    Deutsche Zeitschrift für Philosophie. 25:4 (1977) 456 
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  • 10
    facet.materialart.
    Unknown
    Berlin : Periodicals Archive Online (PAO)
    Deutsche Zeitschrift für Philosophie. 23:9 (1975) 1176 
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