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  • 1
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    German Medical Science; Düsseldorf, Köln
    In:  67. Jahrestagung der Deutschen Gesellschaft für Unfallchirurgie, 89. Tagung der Deutschen Gesellschaft für Orthopädie und Orthopädische Chirurgie und 44. Tagung des Berufsverbandes der Fachärzte für Orthopädie; 20031111-20031116; Berlin; DOC03dguD7-1 /20031111/
    Publication Date: 2003-11-11
    Keywords: ddc: 610
    Language: German
    Type: conferenceObject
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  • 2
    ISSN: 0550-3213
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Physics
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 0370-2693
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Physics
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Nuclear Physics, Section A 545 (1992), S. 419-432 
    ISSN: 0375-9474
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Physics
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 113 (1972), S. 193-204 
    ISSN: 1432-1076
    Keywords: Tyrosinosis ; Influence of Dietary Treatment ; Metabolism of Tyrosine, Phenylalanine, Methionine ; Hypoglycemia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Die biochemischen und klinischen Veränderungen eines Patienten mit Tyrosinose wurden über 2 Jahre verfolgt. Die Reduktion der Phenylalanin- und Tyrosinaufnahme führte zur Heilung der Rachitis sowie zur Normalisierung der Hypophosphatämie, der tubulären Phosphatreabsorption und der Methioninämie. Dieser Effekt war bei Auslaßversuchen reproduzierbar. Die Störungen im Methioninabbau besserten sich jedoch auch später unabhängig von der Tyrosinämie. Diese spontane Besserung, eher unabhängig von der Therapie und im Verlauf der Erkrankung oder mit zunehmendem Alter erfolgend, ließ sich gleichfalls an anderen Symptomen, wie der Thrombocytopenie, den Gerinnungsstörungen und dem verzögerten Phenylalaninabbau beobachten. Der fehlende oder nicht reproduzierbare Einfluß des normalisierten Tyrosinstoffwechsels auf diese Symptome spricht dafür, daß sie eher unabhängig neben der Tyrosinämie bestehen und nicht durch diese bedingt sind. Das Ausmaß der Tyrosinämie war in allen Krankheitsphasen abhängig von der Menge des aufgenommenen Phenylalanin und Tyrosin, die Belastungen mit Phenylalanin ergeben unabhängig vom Alter etwa gleiche Konzentrationskurven für Tyrosin. Die Störungen im Glucosestoffwechsel scheinen durch die Methioninämie verursacht, da Hypoglykämie und fehlender Anstieg des Blutzuckers nach Glukagoninjektion nur bei erhöhten Methioninserumkonzentrationen auftraten, bei isolierter Tyrosinerhöhung hingegen nicht gefunden wurden und beides durch eine Methioninbelastung provoziert werden konnte.
    Notes: Abstract A child with so-called “tyrosinosis” was treated with a reduced phenylalanine and tyrosine intake (100 mg/kg/day) for two periods of 2 and 9 months each. Healing of rickets, normalization of phosphate in the serum and increased tubular reabsorption of phosphate occurred during treatment achieving normal tyrosine levels, whilst these parameters, worsened when the tyrosine in the palsma rose. Methioninemia disappeared and reappeared together with tyrosinemia during and after the first period of treatment (methionine intake was unchanged). Later on these symptoms were no longer correlated, and high levels of methionine were only found during a period of vomiting, loss of weight, failure to grow and normal blood tyrosine levels. Thus the delayed methionine degradation seems be influenced by age, rate of protein synthesis and tyrosinemia. Thrombocytopenia, disturbed liver functions and other symptoms also improved with advancing age or during the natural course of the disease and did not seem to be directly related to dietary treatment. By contrast, the degree of tyrosinemia remained unchanged, depending on the amount of phenylalanine and tyrosine in the food. Hypoglycemia and methioninemia were correlated, the difference in blood sugar between periods with and without methioninemia being statistically significant. Furthermore, there was no rise in the glucose level after glucagon injection when the methionine level was elevated, whilst the results of the glucagon tests were approximately normal at low methionine levels. These findings indicate that hypoglycemia and rickets are secondary symptoms, whereas the other abnormalities seem be more independent of the disturbed tyrosine metabolism.
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  • 6
    ISSN: 1432-1076
    Keywords: Maple syrup urine disease ; emergency treatment ; Exchange transfusion ; Neonatal period ; Calorie intake
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Three patients with maple syrup urine disease were treated during the acute neonatal stage. Multiple exchange transfusions proved to be a satisfactory means of achieving rapid clinical and biochemical improvement during this phase. On the other hand, evidence is provided suggesting that in addition to exchange transfusions, a high calorie intake above 150 Cal/kg body weight/day is necessary to lower the plasma concentration of the branched chain amino acids to near-normal levels. As long as this calorie intake was not provided, further exchange transfusions failed to lower the plasma leucine concentration to below 17 mg/100 ml in one patient. It is assumed that this high calorie intake is necessary to prevent the breakdown of endogenous protein. Treatment of acute episodes in maple syrup urine disease should therefore not only eliminate the elevated alpha-keto acids and branched chain amino acids quickly (i.e. by multiple exchange transfusions or peritoneal dialysis), but in addition should provide a high calorie intake.
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  • 7
    ISSN: 1432-1076
    Keywords: Group B streptococci ; Septicaemia ; Respiratory distress ; Newborn ; Perinatal pneumonia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract 8 newborns with early onset group B streptococcal infection and two patients with late onset meningitis were observed during a period of three years. Respiratory distress, early onset of apnoic spells, and roentgenographic signs of hyaline membrane disease or perinatal pneumonia may lead to early diagnosis, especially if shock develops. The fatal course can only be prevented by prompt antibiotic treatment.
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  • 8
    ISSN: 1432-1076
    Keywords: Adolescent cystinosis ; Renal function ; Renal morphology ; Renal transport of amino acids
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Morphological and functional investigations of the kidney were performed in an adolescent with cystinosis. The late onset and the gradual development of moderate complex tubular dysfunction was documented. Whereas in patients with infantile cystinosis tubulo-intersitial lesions and tubular dysfunction are pronounced, this patient with adolescent cystinosis show a predominance of glomerular lesions and glomerular dysfunction.
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 149 (1990), S. 5-12 
    ISSN: 1432-1076
    Keywords: Collaborative study ; PKU ; study design
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A West German multicentre study (eight centres) of PKU was designed in 1976. The subjects of the study are the differential diagnosis, factors influencing the therapeutic outcome, and the extension of dietary therapy into adolescence. Between 1978 and 1984, 165 patients were enrolled, of whom 38 were of non-German nationality. The educational and occupational status of the West German parents were comparable to the population of the Federal Republic of Germany. In the central data bank located at the University Childrens Hospital in Heidelberg, data from recurrent medical examinations and from biochemistry, dietetics, neurology, psychometry and demography were collected. The differential diagnosis of the elevated plasma Phe level in the newborn period resulted in the detection of 2 patients with a PTPS-deficiency, and of 163 with an apo-enzyme defect. Depending upon the magnitude of the Phe levels during the first weeks of life, preliminary treatment groups were formed. They were revised at the age of 6 months with a protein challenge. The levels of Phe during the protein challenge resulted in three types of response. Of these, type III can apparently forgo dietary restrictions resulting in plasma Phe concentrations of around 10 mg/dl. Preliminary results of the whole study are now presented.
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  • 10
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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