[Auditory brain-stem response in children with Down's syndrome].
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Biomedical subjects
Publications and source records attributed to G Isshiki.
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In a summer camp for 47 diabetic children in Kinki district, Japan, in 1984, the relationship between hypoglycemic symptoms and blood glucose levels by self-monitoring was analyzed. During the 7-day camp, self-monitoring of blood glucose (SMBG) was carried out 599 times in total, 12.7 times per camper. SMBG due to hypoglycemic complaints amounted to 371. 154 measurements out of 371 indicated blood glucose levels under 80 mg/dl, but 78 monitorings were found to be over 200 mg/dl. Fatigue or weakness were the most frequent hypoglycemic symptoms, as was hunger sensation, each reaching approximately 40% in frequency. In most complaints of tremor, the blood glucose level was critically low. Prompt measurement of blood glucose is indeed necessary to properly treat diabetic children with 'hypoglycemic' symptoms.
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Multiple sulphatase deficiency (MSD) and metachromatic leukodystrophy (MLD) are both characterized by a deficiency of arylsulphatase A (ARS A) activity, although they are inherited as separate autosomal recessive traits. However, it has been found that the immunologically active substance with anti-ARS A antibody is present in quite normal levels in MLD and in smaller quantities in MSD fibroblasts (Fiddler, 1979). Indirect immunofluorescence staining with anti-ARS A antibody displayed a coarse granular and diffuse distribution of ARS A or cross-reacting material (CRM) in the normal control and MLD fibroblasts, whereas very weak fluorescence staining was observed in MSD fibroblasts proportional to the decrease in the ARS A activity observed in the lysate enzyme assay. These results suggest that ARS A deficiency in MLD cells is due to an enzymatically deficient ARS A molecule, which is immunologically cross-reactive with anti-normal ARS A antibody. ARS A deficiency in MSD cells appears to be due to a reduced amount of normal ARS A.
Copper-binding proteins in the tissues from the patients with Menkes' kinky hair disease were examined by gel filtration on a Sephadex G-75 column. In the kidney, major part of copper was found to bind to low molecular weight protein, which corresponded chromatographically to metallothionein. This copper-binding protein contained a large amount of copper and a small amount of zinc. Cu: Zn ratio of this protein was different from that of metallothionein found in the fetal liver. In the liver of the same patient, however, there was no increase of copper bound to this protein.
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Tetrahydrobiopterin (BH4) deficiency has been described as a form of hyperphenylalaninaemia in which severe neurological symptoms develop despite early treatment with low phenylalanine diet. In recent years it has become apparent that biopterin deficiency may be caused by a defect either of dihydropteridine reductase (DHPR, EC 1.6.99.10) or dihydrobiopterin synthetase (DHBS) (Niederwieser et al., 1979). Since it was proposed that treatment with precursors of the neurotransmitters involved could prevent neurological deterioration if started within the first months after birth (Curtius et al., 1979), screening of all neonates with hyperphenylalaninaemia for biopterin disorders, and a non-invasive reliable method for the diagnosis of two types of BH4 deficiency are needed urgently. Assessment of pterin derivatives in biological fluids, mostly in urine, by high performance liquid chromatography (HPLC) is proposed as a reliable diagnostic method and Crithidia fasciculata bioassay is also a very sensitive method of measuring biopterin activity. Thus normal values of pterin derivatives during the neonatal period are needed. Nevertheless, few reports on a small number of neonates have so far been found (Niederwieser et al., 1980). In this study we describe normal values of pterin derivatives in urine and biopterin activity in serum, and their age-related change in early neonates, young infants, children and adults.
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