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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Acta neuropathologica 80 (1990), S. 295-306 
    ISSN: 1432-0533
    Keywords: Pyloric stenosis ; Smooth muscle ; Myenteric plexus ; Visceral myopathy ; Neuropathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Smooth muscle cell biopsies obtained at pyloromyotomy from 37 children with infantile hypertrophic pyloric stenosis (IHPS) were studied by light and electron microscopy and compared with 6 autopsy control cases without any clinical evidence of this disorder. In cases with IHPS an apparently irregular increase in the number of smooth muscle cells by mitosis was accompanied by an increase of the endoplasmic reticulum, proliferation of mitochondria and regressive changes, such as shrinkage, swelling, necrosis and apoptosis of smooth muscle cells. Other alterations, seen in some but not all cases consisted of large numbers of unusual dense granules some of which were clearly associated with actin filaments and, therefore, regarded as derivatives of the normally occurring dense bodies. Furthermore, intermyofibrillar and subsarcolemmal glycogen accumulations, various nuclear abnormalities and pleomorphic membranous cytoplasmic or nuclear bodies occurred. While smooth muscle cell abnormalities predominated in some cases of IHPS, in others there were more severe axonal changes in the myenteric plexus. It is suggested, therefore, that a primarily myogenic type of IHPS can be distinguished from a predominantly neurogenic type.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-0584
    Keywords: Key words Down syndrome ; Transient myeloproliferative disorder ; Chromosome 11q23
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  Infants with Down syndrome may develop a transient myeloproliferative disorder (TMD) with the features of acute leukemia but resolving in a spontaneous remission. Chromosomal aberrations in addition to trisomy 21 have only rarely been described. In many cases of infant acute leukemia band q23 of chromosome 11 is involved in nonrandom translocations, often resulting in a rearrangement of the ALL-1 (MLL, HRX, HTRX 1) gene. Generally, this translocation carries a bad prognosis. We describe two newborn girls with Down syndrome and TMD in whom the constitutional trisomy 21 was combined with an acquired abnormality of chromosome 11. During the TMD the morphological and immunologic features were consistent with those of megakaryoblastic leukemia. The chromosome 11 abnormalities were del(11)(q23), but rearrangements of the ALL-1 gene were not found. Our patients had remissions that occurred spontaneously or after a mild chemotherapy. The important finding is that additional chromosomal changes may occur during TMD in Down syndrome. The fact that the abnormality was in region 11q23 raises the question of whether the risk for developing leukemia is increased under these conditions.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 157 (1998), S. 661-662 
    ISSN: 1432-1076
    Keywords: Key words Fluconazole ; Pharmacokinetics ; Premature infant ; Candida albicans
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Systemic infections with Candida albicans in neonates are a frequent and well recognized problem. The therapeutic gold standard in this situation is the combined intravenous antimycotic treatment with amphotericin B and flucytosine. Potential adverse effects of this regimen have encouraged the search for desirable alternatives. We report on the use of oral fluconazole in neonates with Candida albicans septicaemia. Three premature infants were treated with four courses of therapy. Pharmacokinetic studies were performed during each course. At oral doses of 4.5–6 mg/kg once a day, serum levels of fluconazole were within the therapeutic range during the entire dosage interval. Follow up showed microbiological and clinical cure in all patients with no side-effects. In one patient a dosage of 4 mg/kg per day lead to a microbiological relapse with sub-therapeutic serum levels. Conclusions Oral fluconazole seems to be a safe and effective treatment for Candida albicans septicaemia even in premature infants.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 152 (1993), S. 467-468 
    ISSN: 1432-1076
    Keywords: Hirschsprung disease ; Familial occurrence ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Hirschsprung disease (HD) is genetically heterogeneous with approximately 4% familial occurrence. The recurrence risk is higher in patients with severe involvement. We describe the transmission of histotopochemically proven HD from a father with long aganglionic segment disease to a son with ultrashort segment disease. This observation suggests that the length of involvement in HD is related to the variable expression of the gene defect. It also suggests autosomal dominant inheritance of HD.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-1076
    Keywords: Key words Kaposi sarcoma  ;  Immunodeficiency  ;   KSHV  ;  Bone marrow transplantation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 3-year-old boy of German descent suffered from two episodes of Streptococcus pneumoniae meningitis within 2 months. One month previously, the first skin lesion of Kaposi sarcoma (KS) had been observed behind his right ear. During the following 2 years KS disseminated not only mucocutaneously but also to visceral organs. Immunological evaluation revealed severe lymphocytopenia with reduced helper/suppressor T-cell ratio and impaired humoral immune response to pneumococci. Extensive laboratory tests gave no evidence for known immunocompromising infections. However, recently described DNA sequences from a Kaposi sarcoma-associated herpesvirus (KSHV) could be identified within skin tissue. As chemotherapy failed to stop tumour progression the patient was referred for bone marrow transplantation. Eighteen months later the KS is in remission and the patient in a good general condition. Conclusion The case supports the hypothesis that KSHV is involved in the aetiology of KS. Bone marrow transplantation is possibly a therapeutic option for KS in patients with immunodeficiency not related to human immunodeficiency virus infection.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 158 (1999), S. 455-459 
    ISSN: 1432-1076
    Keywords: Key words Cystic fibrosis ; Diabetes mellitus ; Impaired glucose tolerance ; Acarbose
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Impaired glucose tolerance (IGT) is an increasingly frequent complication of cystic fibrosis (CF). In CF patients, a fast postprandial rise in plasma glucose is typically followed by a delayed but prolonged insulin response. Patients may develop symptoms of both hyper- and hypoglycaemia. The α-glucosidase inhibitor, acarbose, delays the hydrolysis and subsequent absorption of ingested carbohydrates. The aim of this study was to investigate the efficacy of acarbose in CF patients with IGT. During a 2-week inpatient period for treatment of Pseudomonas infection, 12 CF patients with IGT were studied in a double-blinded, randomized crossover trial. Each patient received acarbose (50 mg t.i.d.) for 5 days and placebo for 5 days (days 3–8 and days 10–14, respectively). Glucose, insulin and C-peptide responses to a standardized nutritional load were measured at baseline and at the end of each study period (Days 2, 8 and 14). Treatment with acarbose was associated with significant reductions in the mean value, mean peak values and the area under the curve of plasma glucose, insulin and C-peptide, compared to respective baseline values and placebo. Gastro-intestinal disturbances were recorded in 67% of patients during therapy with acarbose. Conclusion Acarbose has a positive therapeutic effect on glucose tolerance in cystic fibrosis patients, as shown by attenuation of postprandial plasma glucose increase and a significant decrease in insulin secretion response. However, acarbose treatment was associated with adverse gastro-intestinal effects that may prevent patients from accepting long-term therapy.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 151 (1992), S. 344-346 
    ISSN: 1432-1076
    Keywords: Cystic fibrosis ; Exophiala/Wangiella dermatitidis ; Fungal pneumonia ; Phaeohyphomycosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The chest X-ray film of a girl with cystic fibrosis (CF) showed slowly increasing mottled densities during the 6th and 7th year of her life. Pulmonary symptoms and distress proceeded fast in spite of intensive treatment with antibiotics, corticosteroids, and physiotherapy. Three different fungal organisms were repeatedly cultured from the sputum:Candida albicans, Aspergillus fumigatus, andExophiala dermatitidis. Antibodies againstC. albicans were in the normal range.Candida antigen in blood and antibodies againstA. fumigatus were absent. Antibodies againstE. dermatitidis were detected by a recently developed indirect immunofluorescence assay. It seems most probable thatE. dermatitidis was the causal agent for fungal pneumonia in this case. Under therapy with ampothericin B and flucytosine the clinical course and radiological appearance improved but definitive eradication ofE. dermatitidis was only achieved after treatment with itraconazole. The isolation of this fungus from the sputum of a CF patient is reported for the first time. The significance of fungal infections in CF is discussed.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 151 (1992), S. 221-224 
    ISSN: 1432-1076
    Keywords: Theophylline ; Toxicity ; Theophylline metabolism ; Pharmacokinetics ; Premature infant
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The pharmacokinetics of theophylline and its metabolites, caffeine, 1,3-dimethyluric acid, 1-methyluric acid and 3-methylxanthine were studied in a 5-day old 1.3 kg premature neonate who accidentally received 180 mg theophylline in 26 h during treatment for bradycardia. Tachycardia, hyperventilation, increased diuresis, central nervous system excitation, an increase in blood glucose concentrations followed by a prolonged decrease and hypercalcaemia were the predominant clinical and laboratory manifestations. The patient responded to supportive care and survived without sequelae. The concentration time course of theophylline and its metabolites in plasma and the pattern of urinary and gastric elimination were determined over 95 h. Theophylline showed, in contrast to its metabolites, a log linear decline in plasma. Elimination of theophylline and caffeine, calculated from their urinary excretion rates, were both exponential during the entire observation period. Urine flow dependence of renal clearance was obvious for theophylline and caffeine. Implications of theophylline disposition in neonates are discussed with special regard to theophylline poisoning.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Journal of inherited metabolic disease 10 (1987), S. 147-151 
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract During an acute respiratory infection, a 4-year-old girl with propionic acidaemia deteriorated rapidly, becoming comatose with a marked acidosis. She did not respond to standard treatment but during haemodialysis her clinical state quickly improved.
    Type of Medium: Electronic Resource
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