{"title":"A case of hypophosphataemic vitamin D-resistant rickets treated with initial massive doses of 1 alpha-hydroxy-vitamin D3 alone.","authors":"K Muraki, Y Nishi, K Tsuda, K Yoshimitsu, T Usui","doi":"10.1111/j.1651-2227.1983.tb09809.x","DOIUrl":"https://doi.org/10.1111/j.1651-2227.1983.tb09809.x","url":null,"abstract":"<p><p>A 1 5/12-year-old girl with hypophosphataemic vitamin D-resistant rickets was treated with initial massive doses of 1 alpha-hydroxy-vitamin D3 (1 alpha-OH-D3) alone. A dramatic improvement of bone lesions and growth rate and normalization of the characteristic biochemical defects were noted within four months after the start of massive 1 alpha-OH-D3 therapy. The results of this study suggest that early therapy with massive doses of 1 alpha-OH-D3 alone improves the radiological findings and restores to normal the biochemical defects and the growth rate as early as possible. This regimen may improve motor strength and endurance and obviate the need for corrective orthopaedic procedures.</p>","PeriodicalId":75407,"journal":{"name":"Acta paediatrica Scandinavica","volume":"72 5","pages":"763-8"},"PeriodicalIF":0.0,"publicationDate":"1983-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1111/j.1651-2227.1983.tb09809.x","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"17376145","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Rickets in a preterm infant during intravenous alimentation.","authors":"T S The, L A Kollée, J M Boon, L A Monnens","doi":"10.1111/j.1651-2227.1983.tb09811.x","DOIUrl":"https://doi.org/10.1111/j.1651-2227.1983.tb09811.x","url":null,"abstract":"<p><p>A preterm baby given intravenous feeding developed severe rickets. Laboratory investigation revealed hypophosphatemia as the main cause of this picture. Recovery was achieved by giving extra phosphorus supplementation. This case demonstrates that conventional infusates do not meet the phosphorus requirement of rapidly growing infants.</p>","PeriodicalId":75407,"journal":{"name":"Acta paediatrica Scandinavica","volume":"72 5","pages":"769-71"},"PeriodicalIF":0.0,"publicationDate":"1983-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1111/j.1651-2227.1983.tb09811.x","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"17474957","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Multiple hereditary gastrointestinal atresias: study of a family.","authors":"F Arnal-Monreal, F Pombo, A Capdevila-Puerta","doi":"10.1111/j.1651-2227.1983.tb09812.x","DOIUrl":"https://doi.org/10.1111/j.1651-2227.1983.tb09812.x","url":null,"abstract":"<p><p>Two siblings with multiple gastrointestinal atresias, from stomach to rectum, are reported. The pathological findings obtained from surgical material and complete autopsies are stressed. This syndrome, first described in 1973, presents a unique combination of clinical, radiologic and pathologic findings and is probably secondary to a malformative process taking place early in intrauterine life and effecting the whole gastrointestinal tract.</p>","PeriodicalId":75407,"journal":{"name":"Acta paediatrica Scandinavica","volume":"72 5","pages":"773-7"},"PeriodicalIF":0.0,"publicationDate":"1983-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1111/j.1651-2227.1983.tb09812.x","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"17693553","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Cystic fibrosis mimicking Bartter's syndrome.","authors":"A G Davison, G J Snodgrass","doi":"10.1111/j.1651-2227.1983.tb09814.x","DOIUrl":"https://doi.org/10.1111/j.1651-2227.1983.tb09814.x","url":null,"abstract":"<p><p>A four-month-old female presented with dehydration and an unexplained hypoelectrolytaemia and metabolic alkalosis in association with hyperreninaemia and hyperaldosteronism. These findings suggested Bartter's syndrome. Sweat sodium concentrations were within normal limits. Total skin water loss was estimated and found to be sufficient for the sodium loss in the sweat to exceed the dietary intake. Reinvestigation at three years revealed normal plasma electrolytes, plasma renin activity and aldosterone values but sweat sodium concentrations were in excess of 80 mmol/l, indicating a diagnosis of cystic fibrosis.</p>","PeriodicalId":75407,"journal":{"name":"Acta paediatrica Scandinavica","volume":"72 5","pages":"781-3"},"PeriodicalIF":0.0,"publicationDate":"1983-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1111/j.1651-2227.1983.tb09814.x","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"17417754","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Plasma concentrations of vitamin D metabolites in a case of rickets of prematurity.","authors":"T Markestad, L Aksnes, P H Finne, D Aarskog","doi":"10.1111/j.1651-2227.1983.tb09808.x","DOIUrl":"https://doi.org/10.1111/j.1651-2227.1983.tb09808.x","url":null,"abstract":"<p><p>Rickets was diagnosed in an extremely low-birthweight infant 16 weeks after birth. She had a normal plasma concentration of 25-hydroxyvitamin D, a relatively low level of 24,25-dihydroxyvitamin D, and a markedly elevated 1,25-dihydroxyvitamin D level compared with adult standards. The plasma concentrations of the vitamin D metabolites were, however, indistinguishable from those of healthy preterm infants who received a similar diet of human milk and vitamins. The results indicate that rickets was not caused by vitamin D deficiency or by abnormal vitamin D metabolism, but by calcium and/or phosphate deficiency, and that the calcium and phosphorous content of human milk may be inappropriately low for very low-birthweight infants.</p>","PeriodicalId":75407,"journal":{"name":"Acta paediatrica Scandinavica","volume":"72 5","pages":"759-61"},"PeriodicalIF":0.0,"publicationDate":"1983-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1111/j.1651-2227.1983.tb09808.x","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"17661651","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Congenital bowing of the long bones. An example of a campomelic syndrome of the short-limbed normocephalic subtype.","authors":"J P Fryns, P Annicq, M Ulrix, H van den Berghe","doi":"10.1111/j.1651-2227.1983.tb09816.x","DOIUrl":"https://doi.org/10.1111/j.1651-2227.1983.tb09816.x","url":null,"abstract":"<p><p>A short-limbed, normocephalic type of campomelic dwarfism is reported in a 1-year-old boy. The pertinent literature on this subject is briefly reviewed.</p>","PeriodicalId":75407,"journal":{"name":"Acta paediatrica Scandinavica","volume":"72 5","pages":"789-91"},"PeriodicalIF":0.0,"publicationDate":"1983-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1111/j.1651-2227.1983.tb09816.x","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"17693555","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A follow-up study up to the age of 14 of children whose mothers smoked during pregnancy.","authors":"P Rantakallio","doi":"10.1111/j.1651-2227.1983.tb09805.x","DOIUrl":"https://doi.org/10.1111/j.1651-2227.1983.tb09805.x","url":null,"abstract":"<p><p>The children of mothers who smoked during pregnancy (n = 1819) and their controls, all born in northern Finland in 1966, were followed up to the age of 14. The children of the smokers were more prone to respiratory diseases than the others. They were also shorter and their mean ability at school poorer than among the controls. The differences remained significant after adjusting for the mother's height and age, social class as determined by the father's occupation, number of older and younger children in the family and the sex of the child. The smoking mothers were found to differ from their controls in each social class, in contrast to the situation at the time of pregnancy, now having on average poorer health, being more often unemployed and having more often left their families. Maternal smoking was still seen to have an effect on the children's physical and mental development, even when these factors were also taken into consideration in the regression analyses, although it was less important than many other socio-biological factors, and it was no more important than paternal smoking.</p>","PeriodicalId":75407,"journal":{"name":"Acta paediatrica Scandinavica","volume":"72 5","pages":"747-53"},"PeriodicalIF":0.0,"publicationDate":"1983-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1111/j.1651-2227.1983.tb09805.x","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"17693551","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Oedema fluid composition in childhood disorders.","authors":"A M Tripathi, K K Agrawal, K N Agarwal","doi":"10.1111/j.1651-2227.1983.tb09804.x","DOIUrl":"https://doi.org/10.1111/j.1651-2227.1983.tb09804.x","url":null,"abstract":"<p><p>Oedema fluid was collected from the leg through a sterile 21 gauge needle inserted into the subcutaneous space in 12 patients with protein energy malnutrition, 12 with nephrosis, 5 with Indian childhood cirrhosis, 4 with acute nephritis, 4 with epidemic dropsy and 3 with congestive heart failure. The concentrations of protein, free amino acids and electrolytes were measured in plasma and oedema fluid. The plasma/oedema fluid ratios were 36:1, 49:1, 32:1 and 52:1 in protein energy malnutrition, nephrosis, Indian childhood cirrhosis and congestive heart failure. These ratios were significantly smaller in epidemic dropsy (4:1) and acute nephritis (21:1). The free alpha amino nitrogen concentrations in these two compartments were almost in equilibrium. This was also found for essential and non-essential amino acid distributions in protein energy malnutrition and nephrosis, whereas differences in amino acid patterns were found in nephritis and epidemic dropsy. Sodium and potassium concentrations varied substantially between diseases where the underlying cause was gross hypoproteinemia compared to non-hypoproteinemic conditions.</p>","PeriodicalId":75407,"journal":{"name":"Acta paediatrica Scandinavica","volume":"72 5","pages":"741-5"},"PeriodicalIF":0.0,"publicationDate":"1983-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1111/j.1651-2227.1983.tb09804.x","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"17474956","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Hereditary motor and sensory neuropathies in Swedish children. I. Prevalence and distribution by disability groups.","authors":"B Hagberg, B Westerberg","doi":"10.1111/j.1651-2227.1983.tb09732.x","DOIUrl":"https://doi.org/10.1111/j.1651-2227.1983.tb09732.x","url":null,"abstract":"ABSTRACT. The prevalence of hereditary motor and sensory neuropathies (HMSN) and their distribution according to the severity of the disability were studied in a population‐based series of Swedish children 2–15 years old. The prevalence per 100 000 of total peroneal muscle atrophies was 21.6 and of all clinical HMSN 19.0 Among HMSN, de‐ and remyelinating types (HMSN I) constituted 8 per 100000 and neuronal‐axonal types (HMSN II) 11. Eighteen of the 21 HMSN I cases and 26 of the 29 HMSN II were considered to represent an autosomal dominant mode of inheritance. Ten per cent of all children were severely, 70% moderately and 20 % mildly disabled. All the severely affected children belonged to the HMSN I group and 9 of the 10 mildly affected to HMSN II.","PeriodicalId":75407,"journal":{"name":"Acta paediatrica Scandinavica","volume":"72 3","pages":"379-83"},"PeriodicalIF":0.0,"publicationDate":"1983-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1111/j.1651-2227.1983.tb09732.x","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"17632762","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Bisatellited microchromosomes and multiple congenital malformations.","authors":"J Chemke, S Rappaport, R Nisani, B M Mogilner","doi":"10.1111/j.1651-2227.1983.tb09751.x","DOIUrl":"https://doi.org/10.1111/j.1651-2227.1983.tb09751.x","url":null,"abstract":"<p><p>The significance of small additional metacentric chromosomes is still unclear. A patient is reported with multiple congenital malformations involving craniofacial structures, the cardiovascular system and gastrointestinal tract, in whom an extra small bisatellited chromosome was detected. The maternal karyotype revealed a marker number 9 chromosome. These cases present a true diagnostic dilemma in genetic counseling, since chromosomal instability may occur in the presence of parental minor structural chromosomal changes.</p>","PeriodicalId":75407,"journal":{"name":"Acta paediatrica Scandinavica","volume":"72 3","pages":"469-71"},"PeriodicalIF":0.0,"publicationDate":"1983-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1111/j.1651-2227.1983.tb09751.x","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"17929874","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}