摘要:

SummaryA method for the quantitative assessment of the balance of net acid (NAB) in growing infants with a changing body composition is described. Results of seventy measurements of the daily NAB in healthy growing premature infants ingesting modified cow's milk formulae are reported. The relative contributions of the various determinants of the daily net acid input in the infant differ from those in the normal adult, and growth appears to be associated with negative net acid balances due to base deposition in skeleton and new body water. The daily load of “undetermined anion” (UA) in the diet was found to be the largest single component of the NAB. Moreover, a strong correlation between the rates of dietary UA intake and fecal UA excretion suggested an active regulation of the transintestinal acid‐base balance. A model for such regulation, based upon available evidence concerning the transport of acid and base across the gastrointestinal membrane, is proposed and briefly disc

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1969.tb04728.x

出版商:Blackwell Publishing Ltd    

年代:1969

数据来源: WILEY

摘要:

SummaryFamilial cases of cerebral palsy were traced all over Sweden. Fortythree families were collected, in 30 of which the patients were siblings. The families were divided into three groups: (1) 16 families with cases of identical syndromes and a history of normal pregnancy, delivery and perinatal period; (2) 3 families with cases of identical syndromes but an abnormal perinatal period; (3) 24 families with non‐identical syndromes.Within the first group, which is of main genetic importance, 10 families were found with 2‐3 siblings affected with congenital non‐progressive ataxia and mental retardation, the mode of inheritance with all probability being autosomal recessive. Three families showed ataxic diplegia, two of them only in siblings, the third with affected members of both sexes represented in three generations. Surprisingly enough, pure spastic diplegia was only revealed in one family, viz. a grandfather and his grandson. Spastic tetraplegia was found in two mentally retarded siblings in an otherwise healthy sibship of 11 members. True microcephaly combined with a dystonic tetraplegic cerebral palsy was seen in one family and was thought to have an autosomal recessive inheritance as in similar cases reported in the literature.Chromosome studies and laboratory screening tests revealed no abnormalities indicating particular aetiological mecha

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1969.tb04729.x

出版商:Blackwell Publishing Ltd    

年代:1969

数据来源: WILEY

摘要:

SummaryAn infant with Maple Syrup Urine Disease was treated from six weeks of age with a synthetic diet containing carefully restricted quantities of branched chain aminoacids. There was a marked immediate improvement. At twelve weeks, gross vitamin deficiency developed and was corrected. The patient is now more than four‐and‐a‐half years old, and although in reasonable general health is quite severely retarded, both mentally and physically.The problems of diagnosis, the biochemical basis of dietary treatment and the laboratory requirements for control are discussed in relation to the 55 previously published

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1969.tb04730.x

出版商:Blackwell Publishing Ltd    

年代:1969

数据来源: WILEY

摘要:

SummaryThis paper describes a boy who suffered from severe recurrent infections from the first year of life. A brother with similar symptoms died from meningococcal meningitis. Virtually no IgM was demonstrable in the patient's serum, and it is suggested that the antibody deficiency syndrome in this case was based on a familial congenital disturbance in IgM synthesis. A study of antibody formation disclosed that disturbances existed in the formation of antibodies assumed to be contained in IgM; other antibodies were produced in adequate amounts. The significance of these findings is discussed in some detail. The boy subsequently developed autoimmune haemolytic anaemia. The question whether this was caused by the IgM deficiency or whether the immunological imbalance was based on a general disorder must remain unanswered.

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1969.tb04731.x

出版商:Blackwell Publishing Ltd    

年代:1969

数据来源: WILEY

摘要:

SummaryBlood values including serum iron and transferrin were measured in 147 healthy children 3‐6 years of age. An iron supplement given to 122 children showed no significant changes in the mean values of the total material in haemoglobin (13.7‐13.7 g/100 ml), V.P.R.C. (40‐40 ml/100 ml), R.B.C. (4.93‐4.67 mill/μl), MCHC (34.1‐34.5 g/100 ml), serum iron (122 ‐106μg/100 ml) and TIBC (410‐397μg/ 100 ml). These values are therefore considered as normal values for the age group in question. No iron deficiency with or without anae

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1969.tb04732.x

出版商:Blackwell Publishing Ltd    

年代:1969

数据来源: WILEY

摘要:

SummaryHypoglycaemia is described in two siblings at seven months and 25 months of age, respectively. Both had suffered very severe erythroblastosis foetalis and it is suggested that the hypoglycaemia represents a late sequel of this disease. Erythroblastosis should be added to the list of conditions associated with hypoglycaemia in the newborn and also in older children. During the investigations an influence of the sight of food upon blood glucose levels was noted.

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1969.tb04733.x

出版商:Blackwell Publishing Ltd    

年代:1969

数据来源: WILEY

摘要:

SummaryPreliminary report of the results obtained with an indirect immunofluorescent technique applied to the study of renal biopsy specimens.Depositions of IgG, IgA, IgM, complement, fibrinogen and albumin were investigated in glomeruli of children with diffuse nephropathies and in adult controls. The localization of the protein precipitates was confirmed by comparing the immunofluorescent picture with the results of the P.A.S.M./ H.E. staining of the same sections.

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1969.tb04734.x

出版商:Blackwell Publishing Ltd    

年代:1969

数据来源: WILEY

摘要:

SummaryFive patients (three boys and two girls, aged 18/12to 6 years) with idiopathic precocious puberty and one patient (boy, 36/12years old) with sexual precocity due to a pinealoma were treated with gestagens, 6α‐methyl‐17α‐acetoxy‐progesterone (Depo‐Provera®) or 6‐chloro‐6‐dehy dro‐17α‐acetoxyprogesterone (Chlormadi‐none acetate; Gestafortin ®), for periods from 4 to 21 months. Before and during treatment the urinary excretion of three 11‐deoxy‐C19four 11‐oxy‐C19) and three C21steroids was determined by a combined column and paper chromatographic procedure with colorimetric end points.In accordance with the failure of suppression of bone and height ages, the steroid excretion patterns during treatment with Depo‐Provera ® remained essentially unchanged. Even after 21 months of therapy the ratios of 5α/5β of 11‐deoxy C19steroids as well as the percentages of allo‐tetrahydrocortisol were elevated above normal ranges. It is concluded that in idiopathic precocious puberty the administration of gestagens fails to inhibit efficiently andJor persistently the secretion of gonadotrophins. They continue to be secreted in amounts sufficient

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1969.tb04735.x

出版商:Blackwell Publishing Ltd    

年代:1969

数据来源: WILEY

摘要:

SummaryThe activity of δ‐aminolevulinic acid synthetase has been measured in liver and hepatoma tissue from a case of hereditary tyrosinemia with an increased excretion of δ‐aminolevulinic acid in the urine. The enzyme activity in the hepatoma tissue was seven times higher than in the surrounding liver, where the activity was not increased above the reported normal range. The activity ofp‐hydroxyphe‐nylpyruvate hydroxylase (EC 1.14.2.2.) was about 25 % of the normal in the liver tissue but not measurable in the hepatoma. Tyrosine aminotransferase (EC 2.6.1.5.) activity was normal in the liver tissue but was not detectable in the hepatoma, whereas the activity of phenylpy‐ruvate keto‐enol isomerase (EC 5.3.2.1.) was the same in liver and he

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1969.tb04736.x

出版商:Blackwell Publishing Ltd    

年代:1969

数据来源: WILEY

摘要:

SummaryFollowing 3 abortions a mother with 3/18 reciprocal translocation gave birth to 2 sons with multiple congenital abnormalities. Chromosome analysis in one of them revealed trisomy for a segment of one arm of chromosome No. 3 and a deletion involving the long arm of No. 18. The clinical features resembled closely those reported in deletion of the long arm of chromosome No. 18. At the age of 12 months he had normal serum levels of IgM, IgG and IgA. Both parents and the child had blood group O. Serum from the child revealed an absence of anti‐A isoagglutinins, and anti‐B isoagglutinins could only be detected with special technique, wheras both parents had relatively high titres of both isoagglutinins. The gene loci of MNS, Rh, Duffy, Gm, Hp, and phosphoglucomutase can be excluded from the deleted part of chromosome No.

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1969.tb04737.x

出版商:Blackwell Publishing Ltd    

年代:1969

数据来源: WILEY