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  • 1
    ISSN: 1432-1076
    Keywords: Glycogenosis ; Granulocytopenia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 139 (1982), S. 172-175 
    ISSN: 1432-1076
    Keywords: Maple syrup urine disease ; Acute phase of MSUD ; Insulin treatment
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract High and neurotoxic blood levels of leucine and its ketoanalogue develop in catabolic patients with maple syrup urine disease. The use of relatively high doses of insulin and additional glucose had a more pronounced effect on lowering leucine (and α-ketoisocaproate) blood levels than dietary elimination of leucine alone. This is demonstrated in 2 neonates after blood exchange transfusion and in one 4-months old patient suffering from febrile diarrhea.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1076
    Keywords: Coeliac disease ; Diabetes mellitus type I ; Antigliadin antibodies
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Screening for coeliac disease (CD) with serum antigliadin antibodies (AGA) was performed in 1032 diabetic children and adolescents. In 8 children CD had been diagnosed before study entry. Of the remaining 1024 children, 33 had an elevated AGA titre in the first serum sample. On follow-up an elevated AGA titre was confirmed in only 17 of 31 patients. Nine of the repeatedly positive patients underwent jejunal biopsy, and CD was diagnosed in two asymptomatic patients; both were positive for IgG- and IgA-AGA. Among 10 AGA-positive patients in whom biopsies could not be performed, only 1 showed IgA-AGA and thus carried a high risk for CD. From our results we estimate a prevalence of CD in Swiss and German diabetic children between 1.1% and 1.3%. Falsepositive AGA titres occurred significantly more often in patients with diabetes duration of less than 1 year. AGA testing teached a specificity of 99% if performed at least 1 year after the onset of diabetes. Children suffering from both diabetes and CD showed a diabetes manifestation at a significantly younger age than non-coeliac patients, whereas CD tended to be diagnosed at a remarkably late age.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1076
    Keywords: Reduced nicotinamide adenine dinucleotide (NADH) dehydrogenase ; Respiratory chain ; Mitochondrial myopathies
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe eight children with complex I deficiency, four of them with an isolated, the other four with an additional deficiency of complex IV. Clinical, chemical and morphological findings were compared from patients with isolated and combined deficiency. In both groups, the age of onset of symptoms was between the 1st day and the 4th month of life. Clinical and biochemical heterogeneity were observed. We found no correlation between residual activity of complex I in muscle, blood lactate level, and severity of clinical symptoms. Newborns presenting with severe lactic acidosis and children with later onset myopathy were seen in both groups. The group with combined complex I deficiency showed a more severe clinical course. By light microscopy ragged red fibres were only found in two patients with combined deficiency. However, by electron microscopy structural alterations of the mitochondria were observed in six out of seven muscle specimens.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-1076
    Keywords: Diabetes mellitus ; Growth ; Height ; Weight ; Metabolic control
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Optimal regimen for insulin therapy should lead to normal longitudinal growth and weight gain in children with diabetes mellitus. However, reports published so far indicate that this goal of paediatric diabetology is currently not achieved in a considerable number of patients. In a cross-sectional sample of 89 children with insulin dependent diabetes mellitus (IDDM) for more than 3 years, we found the relation of height to weight to be significantly different compared to 102 healthy school children of similar age. Using bivariate analysis, body shape in these children with diabetes was shifted towards small and obese (P〈0.05) compared to control children. We subsequently initiated a longitudinal study and followed children from the onset of diabetes for the following 3 years, recording height, weight and bone age as well as glycosylated haemoglobin and daily insulin requirement. At diagnosis, height SDS was identical in children with IDDM (+0.04±0.10) compared to control children (−0.07±0.10; M±SE), while weight SDS was −0.26±0.10 in children with diabetes (controls: +0.01±0.1). Bone age was identically retarded in newly diagnosed IDDM children (−0.73±0.12 SDS) and in our control group of children from the same regional background (−0.50±0.12; n.s.). In this group of children with diabetes mellitus followed prospectively, height to weight relationship differed from controls after 2 and after 3 years of the disease (P〈0.05). At 2 years, body size in children with diabetes was shifted towards taller and heavier compared to controls, while at 3 years, the relation of height to weight was even more abnormal with increased obesity but a reduction of standardized height. This is the same relation encountered in the cross-sectional sample of children with a duration of diabetes beyond 3 years. These data demonstrate that even modern insulin therapy does not guarantee normal development of height and weight in children with IDDM.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 152 (1993), S. 144-147 
    ISSN: 1432-1076
    Keywords: Maple syrup urine disease ; Phenylketonuria ; Intellectual performance ; Neurotoxicity ; Intelligence test
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The intellectual performance of 22 children aged 3–16 years with maple syrup urine disease (MSUD) was assessed and compared to a group of early treated phenylketonuria (PKU) children and normal subjects matched by age, sex, nationality, and socio-economic status. All subjects were tested by one examiner only using the age related versions of the non-verbal Snijders-Oomen intelligence test. The mean IQ (±SD) score was 74±14 (range 50–103) in patients with MSUD, 101±12 (range 87–125) in early treated PKU patients, and 107±9 (range 90–122) in normal subjects. Intercorrelations indicated that length of time after birth that plasma leucine concentration remained 〉1 mmol/l and quality of long-term metabolic control have important influences on IQ.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 155 (1996), S. 830-831 
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 155 (1996), S. S105 
    ISSN: 1432-1076
    Keywords: Key words Phenylketonuria ; Self-monitoring ; Self-treatment ; Capillary blood ; Phenylalanine assay
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract It has been a long established principle in the treatment of diabetes that the patient or his/her family is responsible for day-to-day monitoring of metabolic control. It is believed that this concept should also now be applied in phenylketonuria. At present, self-monitoring of blood phenylalanine still requires assaying the phenylalanine concentration in capillary blood obtained by fingerstick sampling at home, via mailing to a nearby laboratory. Frequently and rapidly obtained data can guide the patient to adjust dietary phenylalanine intake, provided he and his family have been informed in detail about the disease and trained in practical diet competence. Teaching programmes for patients are to be promoted. A home-monitoring device for blood phenylalanine is at the development stage.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1432-1076
    Keywords: Neuronal ceroid-lipofuscinosis ; Serum lecithin pattern ; Arachidonic acid ; Linoleic acid ; Ultrastructural inclusions
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A patient with a progressive neurological disorder beginning at the age of three years is described. Mental and visual disturbances were the first signs, soon followed by ataxia and myoclonic jerks. Fundoscopy revealed a decreased pigmentation of the retina. Ultramicroscopic investigations of muscle and skin disclosed the typical changes seen in the late infantile and juvenile forms of neuronal ceroid-lipofuscinosis. In contrast to the clinical and ultrastructural findings, the fatty acid pattern of the serum lecithin showed a significant increase of arachidonic acid and a corresponding decrease of linoleic acid which is characteristic of the so-called infantile form of neuronal ceroid-lipofuscinosis (Hagberg-Santavuori variant; polyunsaturated fatty acid lipidosis). The obvious heterogeneity of the clinical, histological and laboratory findings within the subgroups of neuronal ceroidlipofuscinosis is briefly discussed.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1432-1076
    Keywords: Maple syrup urine disease ; Peritoneal dialysis ; Peritoneal clearances ; Branched-chain α-amino acids ; Branched-chain α-keto acids
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report biochemical data on a child with MSUD who underwent peritoneal dialysis for severe metabolic imbalance. In confirmation of earlier data, the BCKA/BCAA ratios in blood had been found to be fairly stable in this patient during long-term dietary therapy. The child became comatose at comparatively low levels of leucine and KICA (ca. 2 mM each). At this time the blood/cerebrospinal fluid ratio for BCAA's and BCKA's was markedly diminished. During peritoneal dialysis, peritoneal clearance was highest for KIVA, but less for MEVA and BCAA's (40–50% or urea clearance), and least for the allegedly most toxic metabolite, KICA. The differences for BCKA's may be due to their differential protein binding. Given these individual differences, 1.8 to 8.7 initial plasma volumes were cleared in 14h with 24.21 of dialysis fluid. In the same time, urinary excretion of BCAA's and BCKA's was much less efficient. The data are discussed with regard to the pathobiochemical significance of high tissue levels of branched chain acids. A quantitative comparison between peritoneal dialysis and exchange transfusion is not yet possible.
    Type of Medium: Electronic Resource
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