摘要:

Abstract.Ten infants with obstructive jaundice who developed varying degrees of metabolic bone disease were studied biochemically and radiologically. Mild rickets was present in 7, and 3 others with severe bone disease developed widespread skeletal demineralization and multiple fractures. The intake of vitamin D was apparently loosely related to the severity of the osteodystrophy. The latter however, was closely linked to both the serum inorganic phosphate and the calcium × phosphate product. The serum calcium was directly related to the infant's gestational maturity, hypocalcaemia being present in those born before 35 weeks. Pathogenetic factors have probably included reactive hyperparathyroidism and nutritional deprivation associated with preterm delivery. Five of the infants who had biliary atresia developed radiological evidence of osteoporosis from about twelve months of age. This may be related to protracted calcium malabsorption, but its true nature remains to be elucidated

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1976.tb04408.x

出版商:Blackwell Publishing Ltd    

年代:1976

数据来源: WILEY

摘要:

Abstract.In 8 patients with coeliac disease, 2 patients with cow's milk intolerance and 10 patients with other gastrointestinal disturbances, intestinal biopsies were examined in order to compare the extent of alteration of surface vs. crypt microvilli (MV). In those diseases associated with the ingestion of a noxious agent, namely coeliac disease and cow's milk intolerance, a marked and abrupt difference between the severely damaged surface epithelium and its MV, and the preserved crypt epithelium was noted. The results of the examinations give reason to suppose that these morphological variations are caused by the higher gliadin or milk protein concentration over the avillous surface epithelium as opposed to the lower one in the elongated crypts.

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1976.tb04409.x

出版商:Blackwell Publishing Ltd    

年代:1976

数据来源: WILEY

摘要:

Abstract.The present study was undertaken to provide information about the presence of bacterial flora in the periurethral region of healthy children and its variation with age and sex. It was intended as a basis for subsequent studies in individuals prone to urinary tract infection. Quantitative methods were used for bacteria sampling and culture. The study included 394 girls and 305 boys from birth to 16 years. During the first few weeks of life a massive aerobic bacterial flora (E. coli, enterococci, staphylococci) was established in the periurethral region of both sexes. The colonization withE. coliand enterococci began to diminish already during the first year of life and became very scanty after the age of 5 years. In newbornsE. colicolonization was dense in boys and scanty in girls. LaterE. coliwas the dominating gram‐negative species in girls of all age groups. In boysE. colidominated during the first half year of life, laterProteuswas as common asE. coli; staphylococci did not change very much. Urine samples from healthy school‐children contained very few gram‐negative bacteria, even when collected without preceding cleansing. The results suggest that there might be a local defence mechanism maturing during the first year of life, eventually protecting the exposed area from colonization with gram‐negatives and ente

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1976.tb04410.x

出版商:Blackwell Publishing Ltd    

年代:1976

数据来源: WILEY

摘要:

Abstract.After the age of 5 years, normal children have but few aerobic gram‐negative rods periurethrally. This study examines whether there is an abnormal periurethral colonization in urinary tract infection‐prone girls during infection‐free intervals, indicating a defective local defence. In 13 girls with a history of recurrent infection, daily bacterial samples were obtained from the periurethral area and from urine. Sampling continued until an infection eventually occurred. Seven girls contracted a urinary tract infection within 3–30 days. All were heavily colonized with gram‐negative rods, often several species, before infection appeared. Serotyping ofE. coliconfirmed that it was the colonizing strain which later invaded the bladder. The findings suggest a local defect in the antibacterial defence of infection‐prone individuals and gives strong evidence for ascending infection. Six girls remained uninfected during an observation period of 9–123 days. They all had a normal periurethral flora. A reasonable hypothesis would be that the same factor counteracted colonization and infection. Since abnormal periurethral colonization was not a constant phenomenon the postulated defect may vary. This might explain the fact that urinary tract infections often appear in quick succession, often followed by long infection

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1976.tb04411.x

出版商:Blackwell Publishing Ltd    

年代:1976

数据来源: WILEY

摘要:

Abstract.144 children with low birthweight (2 500 g, LBW) were studied at 7 years of age by questionnaires filled in by their parents and teachers. The children had attended school for at least 3 months at the beginning of the investigation. The teachers also filled in questionnaires regarding 144 sex‐and age‐matched children who served as controls. The questions included performance at school, motor function, and attitude to school‐mates and to adults. The distribution of the LBW‐children among different types of schools was compared with that of the general population. The intellectual level was estimated from Goodenough's Draw‐a‐man‐test. Seven LBW‐children attended special classes, and this was more than expected in the general population. On the average, the intellectual level of LBW‐children was lower than that of the controls. The difference was due mainly to children with a birthweight s2 000 g. Regarding motor function, the LBW‐children were not quite as capable as the controls. They got on less well with their school‐mates and were more anxious, shy and dependent. Many of the parents were overprotective. The differences between the LBW‐children and the controls were subtle. Neurological status at 5 years of age was not clearly related to school performance and school‐adjustment. Socioeconomic factors played no o

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1976.tb04412.x

出版商:Blackwell Publishing Ltd    

年代:1976

数据来源: WILEY

摘要:

Abstract.In 14 patients with simple X–linked hypophosphatemic rickets, 5 were below the third percentile in height and 9 were between the third and twenty‐fifth percentile. Although the mean serum inorganic phosphorus level was only 2.01±0.65 (normal range for all age groups is 3.8 to 6.0 mg/100 ml), both the mean values for red cell 2,3‐diphosphoglycerate (2,3‐DPG) and adenosine triphosphate (ATP) were normal at 4.78±1.23 and 1.02±0.17 μmol/ml of red blood cells respectively. Moreover, the mean P50value was normal at 26.4±0.9 mmHg. These normal oxygen transport data make unlikely any proposal that short stature seen in these patients is secondary to chronic tissue hypoxia. They also indicate that the intra‐erythrocytic organic phosphate levels are maintained at normal levels despite profound chronic hy

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1976.tb04413.x

出版商:Blackwell Publishing Ltd    

年代:1976

数据来源: WILEY

摘要:

Abstract.Two brothers with renal tubular acidosis and nerve deafness are described. Studies of the physiopathological characteristics of the renal acidification defect show that the defect is limited to the distal tubule. Renal tubular acidosis with nerve deafness is a distinct nosologie entity that is determined by an autosomal recessive trait.

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1976.tb04414.x

出版商:Blackwell Publishing Ltd    

年代:1976

数据来源: WILEY

摘要:

Abstract.At 7 months of age a boy suffering from congenital rubella syndrome developed a reticulated erythematous cutaneous eruption. The histopathological picture was that of a vasculitis. Rubella virus was isolated from lens tissue, throat secretion and skin biopsy in addition to urine and blood (whole blood, leukocytes as well as plasma). High levels of rubella neutralizing activity was simultaneously demonstrable in serum. The late onset cutaneous vasculitis was postulated to be related to the presence of circulating antigen‐antibody complexes. At 14 months of age a therapeutic trial with partially purified human interferon was made. The patient received 3 × 106units of interferon daily for 2 weeks. During this period a marked regression of the cutaneous symptoms occurred and complete healing was obtained within two months. Furthermore, the viremia disappeared. However, excretion of rubella virus in the urine continued even at the age of 22 months and serum anti‐rubella IgM activity was present as an indication of the persistent viral infection. These results indicate that the mechanism underlying the persistence of the congenital rubella infection is not exclusively a defect in the endogenous interferon resp

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1976.tb04415.x

出版商:Blackwell Publishing Ltd    

年代:1976

数据来源: WILEY

摘要:

Abstract.Monozygotic female twins with premature adrenarche are reported. Endocrine work‐up excluded the existence of an endocrinopathy or a tumo

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1976.tb04416.x

出版商:Blackwell Publishing Ltd    

年代:1976

数据来源: WILEY

摘要:

Abstract.A patient presenting with a deep metabolic acidosis after birth is described. Gas chromatographic analysis of short chain fatty acid and non volatile organic acids revealed the presence of both propionic and methylmalonic acid. In plasma obtained immediately after death the propionic‐and methylmalonic acid concentrations were measured after separation of both acids by thin layer chromatography. The propionic acid concentration was about 5 mM while the methylmalonic acid concentration was 2.6 mM. The methylmalonic acid concentration in urine was 6.8 mM. Propionyl‐CoA carboxylase activity measured in leucocytes and liver‐mitochondria revealed normal values (53 pmoles/min/mg protein and 6.5 nmoles/min/mg protein respectively). 2‐14C‐Methyl‐rnalonate oxydation in intact fibroblasts was totally blocked in the patient's cells. The methylmalonyl‐CoA carbonyl mutase activity was found to be absent in the patient's fibroblasts. Addition of vit. B12coenzyme to the incubation mixture stimulated14C‐succinate formation in the control cells but not in the

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1976.tb04417.x

出版商:Blackwell Publishing Ltd    

年代:1976

数据来源: WILEY