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  • 1
    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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  • 2
    ISSN: 1432-1076
    Keywords: Chronic nonobstructive ileus ; Impaired intestinal motility ; Malabsorption ; Systemic sclerosis without scleroderma
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The clinical findings and pathological changes in a 14 year old boy who died from severe malabsorption are presented. Early signs of the illness were attacks of abdominal pain, diarrhoea, and intermittent periods of constipation. Later, severe malabsorption together with chronic ileus were apparent but no organic obstruction was found at several laparotomies. X-ray examination revealed extremly distended intestinal loops and a very slow transit time of barium. Malnutrition could not be improved by dietary, medical, or surgical therapy. Microscopic examination of the tissues obtained at autopsy showed changes in the small vessels of the lungs, heart, kidneys, and intestine. Increased fibrous tissue combined with atrophy of the muscular coat was observed in the wall of the entire intestine. Although cutaneous changes of scleroderma were not evident the deposition of collagenous material and the vascular changes seem typical of systemic sclerosis.
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  • 3
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Allelic association between cystic fibrosis and two linked markers is demonstrated in a sample of 55 German families. It is shown by example how these observations can be used for genetic risk calculation.
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  • 4
    ISSN: 1432-1076
    Keywords: Key words Malignant infantile osteopetrosis ; Rickets ; Neonate ; Vitamin D deficiency ; Abbreviations25OHD 25-Hydroxyvitamin D ; 1,25(OH)2D 1,25-Dihydroxyvitamin D ; PTH Parathyroid hormone ; ALP Alkaline phosphatase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A neonate presented with clinical, biochemical, endocrine and radiographic features consistent with vitamin D deficiency rickets of maternal origin. Persistent hypocalcemia and subsequent development of pancytopenia, hemolysis and hepatosplenomegaly prompted further studies that led to the diagnosis of infantile osteopetrosis. Conclusion Osteopetrosis is an important differential diagnosis of neonatal rickets and is not excluded by low vitamin D levels.
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  • 5
    ISSN: 1432-1076
    Keywords: Chromosomal aberration ; 11;12 translocation ; “Partial trisomy 22 and 11” ; Hirschsprung disease
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The 11;22 translocation seems to be the most frequent, non-Robertsonian translocation in man. Approximately 50 cases with an unbalanced karyotype 47,XX (or XY),+der(22), t(11q;22q), due to a 3:1 meiotic disjunction in the parental translocation carrier, have been reported in the literature. We present an additional patient with that chromosome aberration, whose father was shown to be the translocation carrier. He presented with many of the more or less typical signs of the syndrome, but had an extraordinary additional finding, namely Hirschsprung disease. Although anal stenosis is a rather frequent finding in the syndrome, Hirschsprung disease has never been described in the literature. Furthermore the most important genetic and cytogenetic data on that chromosome aberration are given, including implications for genetic counselling.
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  • 6
    ISSN: 1432-1440
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Methods for thin-layer chromatography of urinary amino acids on commercially available procoated plates of micro-crystalline cellulose are presented. The urine is desalted by passing it through columns containing Amberlite CG 120 I. The amino acids are eluted by a solution of 5 per cent ammonia. The eluate is taken to dryness and dissolved in such an amount of water that 1 µl corresponds to 1 µg of creatinine. 1 µl is spotted to plates (10×10 cm) by micro pipets. Every urine is developed two-dimensionally by two solvent pairs. First pair: Ethanol-H2O (83:17), first direction, three times developed up to 8 cm, tert-Butanolmethylethylketone-NH3-diethylamine-H2O (35:35:10:0,4:20), second direction, once developed up to 8 cm. Second pair: n-Butanol-acetone-glacial acetic acid-H2O (35:35:10:20), first direction, phenol-formic acid (15 per cent) (250 g+83 ml), second direction, once developed up to 8 cm. Using these solvent pairs it is possible to separate most of the important urinary amino acids and diagnose or suspect most of the known metabolic disorders with a disturbed urinary excretion of amino acids. Phosphoethanolamine, S-sulphocysteine and taurine are lost by desalting the urine. Special problems of detecting and locating some amino acids are discussed.
    Notes: Zusammenfassung Es werden Methoden zur Dünnschichtchromatographie der Harnaminosäuren auf mikrokristalliner Cellulose angegeben. Vor der dünnschichtchromatographischen Trennung wird der Urin (Amberlite CG 120 I, H+-Form; Elution mit 5% igem NH3) entsalzt. Nach Einengen des Eluats zur Trockne und Lösung des Rückstandes in einer auf den Kreatiningehalt des Urins bezogenen Menge Wasser wird der Urin auf Cellulose-Fertigplatten der Fa. Merck AG. aufgetragen. Die Plattengröße beträgt 10×10 cm. Durch Verwendung von zwei Fließmittelpaaren ist es möglich, bei den meisten der bekannten Stoffwechselkrankheiten mit vermehrter Aminosäure-Ausscheidung eine Diagnose oder eine Verdachtsdiagnose zu stellen. Ausnahmen sind lediglich die Hypophosphatasie, der Sulfitoxydase-Mangel und die Taurinurie, da die bei diesen Störungen vermehrt ausgeschiedenen Aminosäuren Phosphoäthanolamin, S-Sulfo-l-cystein und Taurin bei der Entsalzung verloren gehen. Auf spezielle Probleme des Nachweises einzelner Aminosäuren wird eingegangen.
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric radiology 19 (1989), S. 498-498 
    ISSN: 1432-1998
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric radiology 20 (1990), S. 500-500 
    ISSN: 1432-1998
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
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  • 9
    ISSN: 1435-2451
    Keywords: Functional adaption ; Alteration of maltases ; saccharase ; alkaline phosphatase ; Jejunal resection versus ileo-jejunal transposition
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Die Aktivität der Maltasen, Saccharase und alkalischen Phosphatase in unterschiedlichen Abschnitten des Darmes von Hunden wurde 0, 3, 6 und 9 Wochen nach einer operativen Veränderung der Integrität des Darmrohres bestimmt (Resektion des Jejunums, ileo-jejunale Transposition und Scheinoperation). Die Aktivität der Bürstensaumenzyme steigt vom Duodenum bis zum proximalen Ileum leicht an und ist im weiter distal gelegenen Ileum äußerst niedrig. Im Beobachtungszeitraum ändert sich die Aktivität der Enzyme bei den Kontrolltieren nicht; bei den jejunumresezierten Hunden steigt die Aktivität im Duodenum an, im jetzt anschließend an das Duodenum liegenden Ileum entsprechen die Werte der Aktivität denjenigen, die am Versuchsbeginn gefunden wurden. Nach ileojejunaler Transposition ist sowohl im jetzt proximal liegenden Ileum wie im distal verlagerten Jejunum eine Resektion der Enzymaktivität auf 60 bzw. 50 % der Ausgangswerte zu beobachten. Die Veränderungen der unterschiedlich gemessenen Enzyme verhalten sich gleichsinnig und ereignen sich innerhalb von 3 Wochen postoperativ. Die Ergebnisse zeigen in Abhängigkeit vom Typ der Operation (Resektion versus Transposition des Jejunums) unterschiedliche Veränderungen der Bürstensaumenzyme des Ileums.
    Notes: Summary The maltases, saccharase, and alkaline phosphatase activity of different intestinal segments of dogs was determined 0, 3, 6 and 9 weeks after an operation which altered the integrity of the intestinal tube (resection of jejunum, ileo-jejunal transposition, sham operation). Enzyme levels increase from duodenum to the proximal ileum but are very low more distally. At different time intervals enzyme activity remains unchanged in shame operated animals. After resection of the jejunum the activity in the duodenum increased, but was found almost unaltered in the proximal and distal ileum. In contrast, after ileo-jejunal transposition a reduced activity of 50 % and 60 % was observed informer jejunal or, ileal loops, respectively. The levels of the different measured enzymes change in a similar fashion, and the described alterations occur within 3 weeks after operation. The results show depending on the type of operation (resection versus transposition of the jejunum) a different alteration of ileal brush border enzymes.
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