摘要:

AbstractWe report a case of NADH‐CoQ reductase deficiency, which is the first case described in Japan. A 3‐year‐and‐9‐month‐old‐boy had a severe and progressive neurologic disorder characterized by psychomotor retardation, myoclonic epilepsy and spastic quadriplegia. Moreover he had a respiratory problem of uncertain etiology in the neonatal period. Venous blood lactate levels were strikingly increased, ranging from 16.8 to 47.4 mg/100 ml, with an abnormally high lactate‐pyruvate ratio (21.2±1.7). Lactate and pyruvate levels in the cerebrospinal fluid (CSF) were also elevated (48.9 mg/100 ml and 2.09 mg/100 ml respectively). Histochemical investigation of a muscle specimen showed marked atrophy of type 1 and 2A fibers. No ragged red fiber was seen. Electron microscopy revealed a mild increase of lipid vacuoles among the myofibrils. The mitochondria showed no abnormal structure and no paracrystalline inclusion body. Biochemical studies of muscle mitochondria revealed a defective activity of NADH‐CoQ reductase in the respiratory chain. We propose that cases with so‐called mitochondrial myopathy should be classified according to the fundamental biochemical defects underlying of the clinical symptoms, and that the entity of NADH‐CoQ reductase should be divided into two further subtypes, of which one is early onset type an

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1986.tb00690.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

AbstractA high‐resolution banding technique has become indispensable in the study of patients with both congenital abnormalities and malignant diseases and has been used in various fields. A small chromosomal change is hard to detect, unless a sophisticated technique is used. In the present paper, our experience of small structural changes in a chromosome in the case of Prader‐Willi syndrome, retinoblastoma and aniridia‐Wilms' tumor association are summarized and briefly reviewed in the light of current high‐resolution techniques, including the acridine orange technique developed by ou

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1986.tb00691.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

AbstractTo elucidate the bile acid metabolism in the preoperative and postoperative stages of congenital biliary atresia (CBA), the unconjugated and conjugated bile acid levels in sera were measured by high performance liquid chromatography (HPLC). The results showed that the mean total serum bile acid (TSBA) level in the preoperative cases of CBA was higher, 122.1±39.0n̈mol/1 (1SD), and was about 12 times higher than the level in the age‐matched normal controls (9.9±6.0). Even in the non‐icteric patients several years after operation, the mean TSBA level was still much higher (15.2±9.6) than that of normal controls (5.7±3.1). The mean ratio of cholic acid to chenodeoxycholic acid (CA/CDCA) in the preoperative and postoperative cases of CBA was less than 1.0. The mean ratio of glycine‐conjugated bile acids to taurine‐conjugated bile acids (G/T) in the preoperative cases of CBA was the lowest (1.9±1.1). In the clinically good cases with sufficient bile flow after operation, G/T ratio was the highest (9.3±6.5). In the normal controls and the patients with preoperative and postoperative CBA, the main bile acids were glycocholic acid, taurocholic acid, glycochenodeoxycholic acid and taurochenodeoxycholic acid. These conjugated bile acids comprised more than 85% of the t

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1986.tb00692.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

AbstractWistar rats were administered rabbit anti‐tissue serum alone or in combination with sub‐teratogenic doses of anti‐kidney serum (AKS) on day 9 of gestation. The results showed that the incidence of cardiovascular malformations was highest (46.7%) when a small dose (1 ml/kg) of AKS given on day 9 was followed by 9 ml/kg of anti‐heart serum (AHS) on day 10. The most common cardiovascular malformations were ventricular septal defects associated with aortic arch anomalies. The spectrum of malformations did not vary with the injected sera. Immunodiffusion studies indicated that the kidney, umbilical cord and yolk sac tissues have at least one common antigen. Between the AHS and the kidney antigen, a slight precipitin band was also demonstrated. These results suggest that the synergistic effects of antisera depend on the degree of immunological cross‐reaction with the yolk sac, and that the mechanisms of teratogenicity by the combined administration is caused mainly by yolk sac dy

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1986.tb00693.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

AbstractOf 1,235 patients (609 male; 626 female) with congenital heart disease for whom types, etiology and associated congenital anomalies were determinable, 129 patients (10.4%) had mental retardatin. Patients with congenital heart disease complicated by mental retardation included 70 (54.3%) with chromosome aberrations, three(2.3%) with single gene disorders, two (1.6%) caused by environmental insult, and two (1.6%) with other recognized syndromes. Among the remaining 52 patients, asphyxia at birt was noted in 16, including 12 complicated by multiple malformations, and 4 in whom mental retardedation was presumed to be due to the asphyxia. In the remaining 36 patients, the incidence of the complication of mental retardation in cyanotic congenital heart disese was significantly higher than that in acyanotic congenital heart disease was signicantly higher than that in acyanotic congenital heart disease. Patients with congenital heart disease of unknown etiology associated with mental retardation included those from two families considered to have new pedigree syndromes.

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1986.tb00694.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

AbstractNine hundred and ninety‐eight obese children aged 6 to 15 years participated in the present study. Fasting serum lipid and lipoprotein cholesterol values were measured and the relationship between obesity and abnormalities of serum lipids and lipoproteins was assessed. The results were as follows: 1. Obese children were more likely than non‐obese children to have elevated serum total cholesterol (TC), triglyceride (TG) and LDL‐C(low density lipoprotein cholesterol) levels and reduced HDL‐C (high density lipoprotein cholestrol) levels. 2. The more the relative body weight index increased, the worse the abnormalities of serum lipids and lipoproteins became. This tendency was marked in junior high‐school boys. 3. Hypercholesterolemia in obese children was mostly accounted for by LDL‐C only and elevated HDL‐C could no

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1986.tb00695.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

AbstractSteroid pulse was employed in the treatment of three pediatric patients wit juvenile rheumatoid arthritis, dermatiomyositis and Behçet's disease, respectively. Initially, frequent of steriod pulse course were employed, in an attempt to achieve prompt relief of the acute exacerbations of chronic inflammatory disease. Thereafter, M‐PSL pulse at 20–30mg/kg was carried out once every 3–8 weeks for 3–4 years at the outpatient clinic. All patients were able to lead a comfortable life, with minor symptoms, and they had neither cushingoid features nor growth retardation. The hypothalamopituitary‐adrenal system was also retained, and significant immunological abnormalities were not detected in any case, even after prolonged and repeated steroid pul

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1986.tb00696.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

AbstractToys are associated with a child's expression, fantasy, interest, exploration, construction, education, cognitive development and sex‐role learning. The present research was concerned with the influence of parental toy choice on child toy preference and sex‐role typing among nursery school children. The results indicated that child toy preference was found to be significantly related to parental toy preference. Moreover, the parental toy preference was found to be associated with sex‐role t

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1986.tb00697.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

AbstractTo examine the etiological role of gastrin in infantile hypertrophic pyloric stenosis (IHPS), fasting levels of serum gastrin and the response in the serum levels of this hormone to oral milk feeding were investigated in 10 infants with IHPS aged 18 to 125 days before treatment (untreated group) and in the convalescent stage (improved group) following conservative management. Distribution of the antral gastrin cells (G‐cell) was also studied electron microscopically. Seven pairs of the parents of patients investigated took part in the fasting serum gastrin measurement to investigate the genetic effects.Mean fasting serum gastrin concentration was significantly elevated in patients of the untreated group (254±44 pg/ml, p<0.05) and in patients of the improved group (191±35 pg/ml, p<0.05) compared with the mean value (115±20 pg/ml) for the control group (n=6). The maximum peak gastrin response and the duration of hypergastrinemic response to milk feeding in order of magnitude or length were observed in the untreated, improved and control groups. There was no difference of numbers of antral G‐cell among the 3 groups but G‐cells of untreated patients tended to have vacuoles near the Golge apparatus which is consistent with hyperfunction of the cell. Hypergastrinemia was found in 4 out of 7 mothers (54.3%), 2 of whom were extremely hypergastrinemic (329 pg/ml, 732 pg/ml), and in 3 out of 7 fathers (42.8%) including 2 pairs of the parents (28.5%). These results support the view that gastrin may play a role together with the genetic endowment within a susceptible population in the pathogenesis

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1986.tb00698.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

AbstractSerum gastrin levels were measured radioimmunologically in 123 patients with various gastrointestinal diseases to study the pathophysiological role in the diseases.1)In winter diarrhea, mean fasting gastrin level tended to be slightly higher in the severer patients but the difference from the control level were not statistically significant. After test meal, however, mean serum gastrin level increased rapidly and reached a peak by after 10 minutes followed by levelling off for 20 minutes. This result may suggest that a feedback mechanism between the secretion of gastrin and secretin is disturbed in the disease.2)In bacillary dysentery, mean fasting serum gastrin levels in the acute stage did not differ from that of controls.3)Mean fasting serum gastrin levels in neonatal hepatitis and chronic hepatitis of school children were significantly lower but the level in congenital biliary atresia was not different as compared to those of age‐matched controls. Further investigation of gastrin metabolism in liver may be needed.4)In duodenal ulcer, mean fasting serum gastrin level was not different statistically from the control value but mean gastrin response to feeding was significantly greater and longer than that of controls. This abnormality of gastrin release in children with duodenal ulcer may have a significant role in the pathogenesis of the disease.5)In superior mesenteric artery syndrome, mean fasting gastrin level was significantly lower than that of controls and mean serum gastrin responses to test meal both in sitting and prone positions were significantly lower than those of controls. No statistical difference was found when the response were compared between in a sitting and prone positions. The hypogastrinemic response to meal in patients with this order was probably considered to be due to impaired function of G‐cells which was caused by dilatation of the stomach and/or duodenum resulting in the mucosal damage.6)The increment of gastrin secretion following glucocorticoid administration was found in children with anaphylactoid purpura and the effect was confirmed in rats. This results suggest that the so‐called steroid ulcer may partly be caused by steroid induced gastrin hypersecr

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1986.tb00699.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY