ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1969.tb04707.x

出版商:Blackwell Publishing Ltd    

年代:1969

数据来源: WILEY

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1969.tb04708.x

出版商:Blackwell Publishing Ltd    

年代:1969

数据来源: WILEY

摘要:

SummarySurvey of all available data of infants with familial hypophosphatemia vitamin D resistant rickets observed partially or throughout the first year of life indicates that hypophosphatemia begins in the neonatal period regardless of whether or not the mother had been treated with vitamin D in high doses. Growth failure in vitamin D resistant rickets cannot be prevented even when treatment with high doses of vitamin D is begun early.

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1969.tb04709.x

出版商:Blackwell Publishing Ltd    

年代:1969

数据来源: WILEY

摘要:

SummaryTwo children, brother and sister, presenting a clinically peculiar form of mucopolysaccharidosis are reported. There exists a discrepancy between clinical and radiological data and biochemical findings. Enzyme study of the liver discloses a striking hyperactivity of the acid /J‐galactosidase. Hepatic ultrastructure differs from that of other previous descriptions of mucopolysaccharidoses, demonstrating a complex storage of lipids and mucopolysaccharides within swollen lysosome

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1969.tb04710.x

出版商:Blackwell Publishing Ltd    

年代:1969

数据来源: WILEY

摘要:

SummaryIn 33 infants repeated blood samples were taken during the first year of life for determination of the different immunoglobulins. The infants were divided into groups according to their histories of infection. These groups were compared with each other and, as also was the series as a whole, with a series of children investigated previously from a Baby Welfare Centre (BWC). A distinct relationship was found between the infants' histories of infection and their immunoglobulin development. The history of infection appeared to be reflected predominantly in the serum concentrations of IgA and IgM, and to a lesser extent in their IgG levels. The initial IgG concentration appeared to be of little importance for the IgG development after the first weeks of life.The infants who had the highest IgG levels at birth showed a significantly more rapid decrease in their IgG concentrations during the first 6 weeks of life than those with the lowest initial IgG levels. This finding may possibly indicate a later start of their own synthesis of IgG in infants who have a high serum concentration of maternal IgG at birth. The infants exhibited a very early capacity for IgM synthesis and the mean IgM curve rose steeply during the first two weeks of life, subsequently becoming flatter. The infants with recurrent infections of different kinds showed, on the average, twice as high IgM concentrations at the age of 1 year as the children in the previously reported BWC series.The IgA development took place considerably more slowly than that of IgM, but at the age of 1 year the infants with recurrent infections had, however, on the average, more than twice as high IgA concentrations as the children in the BWC series. On comparing this longitudinally studied series of infants in its entirety with the previous BWC series, which can be regarded as selected from the point of view of infection, the former series was found to show a more rapid development of the IgG, IgA and IgM levels during the first year of life.

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1969.tb04711.x

出版商:Blackwell Publishing Ltd    

年代:1969

数据来源: WILEY

摘要:

SummaryA case of hereditary galactosemia in a newborn infant is reported. Dietary treatment was started on the 9th day of life, which caused a dramatical improvement in the patient's condition. Diagnosis was confirmed by assay of galactose in urine and blood, and finally by demonstration of the enzyme deficiency in the red blood cells of the patient. Both parents had low values for galactose‐1‐phosphate uridyl transferase activity in red blood cells, in agreement with the fact that they are heterozygotes for hereditary galactosemia.A recently described test paper for galactose in urine was used both in the diagnosis of the disease and for the control of the suitability of the patient's diet.In addition to galactose, the urine also contained large anounts of galactitol. On the introduction of galactose‐free diet, galactitol dis‐appeared from the urine more slowly than did galactose.There was an increased concentration of amino acids in the blood and in the urine, as a result of liver damage and also decreased tubular reabsorption. Also the aminoaciduria and the increased blood amino acid concentration disappeared on galactose‐

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1969.tb04712.x

出版商:Blackwell Publishing Ltd    

年代:1969

数据来源: WILEY

摘要:

SummaryThe reliability of the paper chromatographic technique developed by Whitehead for evaluation of the amino pattern of serum and plasma has been studied by comparison with the results obtained by quantitative column chromatography. The results obtained with the two techniques show a satisfactory agreement.The screening technique has been used in a field study of protein malnutrition among Ethiopian pre‐school children in different areas of the country. Changes of the amino acid pattern of blood serum of the type seen in protein malnutrition have been found in 27‐52 % of the children. The highest figure of amino acid imbalance was obtained for an area, where ensete (false banana) containing only about 1 % of protein is the main staple food.The erythrocyte/plasma distribution ratios of amino acids have been determined in a group of children with advanced protein malnutrition. The erythrocyte values of amino acids are often increased in spite of low plasma values resulting in high erythrocyte/plasma distribution ratios in most of the protein malnutrition cases stud

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1969.tb04713.x

出版商:Blackwell Publishing Ltd    

年代:1969

数据来源: WILEY

摘要:

SummaryA simplified method of ion‐exchange chromatography of essential amino acids on small amounts of human plasma is described. The precision of the instrument and the reproducibility was to be compared with those achieved with automatic amino acid analyzers. The method has been applied in a survey of venous plasma free amino acid levels and urinary concentrations during the neonatal period.A considerable general decrease of the free amino acid levels was seen already during the first postnatal day. This was most marked in the branch‐chained amino acids, where levels that were low for infants were seen already after the first hours of starvation. The well known high urinary excretion of amino acid nitrogen was found to be due to a high excretion of a limited number of amino ac

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1969.tb04714.x

出版商:Blackwell Publishing Ltd    

年代:1969

数据来源: WILEY

摘要:

SummaryChildren immunized with 4 doses of formalin‐killed (FK) whole virus vaccine containing adjuvant and aqueous, purified hemagglutinin prepared from Tween‐ether (TE) treated material in different combinations have been followed serologically and clinically during a period of 3 to 4 years after the last dose of vaccine. The average decline in HI antibody titers was about 10‐fold during this period of time, except in children who had received 4 doses of TE vaccine. The latter group displayed about a 40‐fold decrease in titers. Four out of 10 children exposed to cases of regular measles displayed clinical symptoms of varying degrees of severity. Two more children responded with a rise in HI antibody titer only. All these reactions occurred in children with a pre‐exposure HI serum titer of 160 or higher. A case of pneumonia was encountered in connection with exposure to wild virus in a child who had received only 2 doses of F

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1969.tb04715.x

出版商:Blackwell Publishing Ltd    

年代:1969

数据来源: WILEY

摘要:

SummarySix familial cases of partial absence of the sacrum and the coccyx are described. Four had sacral ventral meningocele. There was a sex‐linked dominant inheritance. The diagnosis of the meningocele was established by myelography. The symptoms were constipation and incontinence of urine. Three patients also had recurrent infections of the urinary tract, and three had congenital anal stenosi

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1969.tb04716.x

出版商:Blackwell Publishing Ltd    

年代:1969

数据来源: WILEY