ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1959.tb16039.x

出版商:Blackwell Publishing Ltd    

年代:1959

数据来源: WILEY

摘要:

Book reviewed in this article:Maurice Lamy and Pierre Maroteaux:Les Chondrodystrophies Genotypiques.Bensaude, A. and Chigot, P. L.R. S. Illingworth:The Development of the Infant and Young Child, Normal and Abnormal.Sir James Spenee:The Purpose and Practice of Medicine.J. F. de Wijn and J. H. de Haas:Growth Diagrams from 1–25 Years in the Netherlands.Moshe Prywes (ed.):Medical and Biological Research in Israel.T. Yoshida and J. Huizuiga:Abstracts of Japanese Medicin

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1959.tb16040.x

出版商:Blackwell Publishing Ltd    

年代:1959

数据来源: WILEY

摘要:

SummaryA family is described in which mother rind son both displayed auricular septal defects of the secundum type while father and daughter had no cardiovascular disorders. The karyotypes of these individuals were analysed by the cell culture method using biopsies from bone marrow and skin. The majority of the cells from the mother had 47 chromosomes and she was apparently trisomic [19‐201. A similar additional chromosome of group [19‐201 wasfound in the cells derived from the son.However, he lacked one of the smallest acrocentric chromosomes. His chromosome number was 46. The father and daughter both had normal karyotypes. The significance of numerical and/or structural chromosome variation in the etiology of congenital heart malformation is discussed with regard to recent developments in clinical cytogenet

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1959.tb16041.x

出版商:Blackwell Publishing Ltd    

年代:1959

数据来源: WILEY

摘要:

SummaryThe mean ventricular weights of prematurely born infants who had lived for five or more days were compared with the mean ventricular weights of stillborns of equal crown rump lengths. The left ventricular weights suggest that there has already been some hypertrophy over that which would have occurred in utero. The right ventricle growth continued a t the same rate as would have occurred had the child remainedin vitero.

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1959.tb16042.x

出版商:Blackwell Publishing Ltd    

年代:1959

数据来源: WILEY

摘要:

SummaryA study of the iron and copper concentration of livers from 75 apparently normal stillborns and 11 infants dying with haemolytic disease, show that in normal circumstances there is no increase in the iron and copper concentration with increasing intrauterine maturity.There is no difference between the concentration of copper in the left and right lobes but there is a significant difference in the amount of iron, the left containing more than the right.In children with haemolytic disease there is a gross increase in the iron concentration of the liver and this is more marked in the right than in the left lobe. In children with Rh disease there is possibly some diminution in the copper concentration of the liver in those cases that survive to full term.

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1959.tb16043.x

出版商:Blackwell Publishing Ltd    

年代:1959

数据来源: WILEY

摘要:

SummaryThe cytogenetical and clinical observations of a 4 year old girl with a mongolism‐like syndrome are reported. The patient showed a moderate mental and physical retardation. Some signs and symptoms considered characteristic of mongolism were present. Others, such as the dermal patterns of hands and feet, rather contradict this diagnosis. In addition the patient had a bilateral dislocation of the hips and unspecific signs of retinal degeneration. There were no signs of abnormal sexual development.Chromosome studies based on cell cultures derived from bone marrow and skin biopsies revealed a chromosome number of 46 and a consistent karyotype pattern which was interpfeted as a combination of trisomy for chromosome no. 21 and monosomy for no. 16, or alternatively as a translocation between the short arms of 16/21. Typical sex chromatin was present in 50‐60%of the interphase nuclei. Both parents had apparently normal karyo‐types and were free from signs or symptoms of significant disease.This patient represents a new genetical disease entity and clinically a variant of the common trisomic type of mong

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1959.tb16044.x

出版商:Blackwell Publishing Ltd    

年代:1959

数据来源: WILEY

摘要:

SummaryThree patients with essential hypopro‐teinaemia are described. In all of them, signs and symptoms suggested an intestinal lesion. In two of them a PVP test wiis performed and gave a pathological result. Our cases and those of others strongly support the hypothesis that many cases of unexplained hypoproteinaemia are caused by intestinal disease. The poor general condition of one of the patients led us to perform a laporotomy. Biopsies showed distinct lesions of the small intestine. A large part of the diseased small intestine was resected without benefit.In some chronic cases surgical intervention may be tried. The PVP test, as first described by Gordon, is of great diagnostic aid in such case

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1959.tb16045.x

出版商:Blackwell Publishing Ltd    

年代:1959

数据来源: WILEY

摘要:

SummaryThe normal pulmonary arterial vascular bed undergoes a morphological development during infancy. The intrapulmonary arteries a t birth have narrow luminae and thick vessel walls, thus resembling the structure of systemic arteries. During the first months of life, there is a progressive change, so that the lumen of the intrapulmonary arteries widens and the thickness of the vessel wall decreases.After 3‐4 months of age, this development takes place more slowly, and after 8 months of life has almost subsided. In regard to the different types of intrapulmonary vessels, the elastic arteries (intrapulmonary arteries of greater size) seem to undergo an earlier development than the muscular arteries (smaller type of intrapulmonary arteries). Corresponding to the progressive vascular change during the first months of life, the hemodynamic behaviour of the pulmonary circulation changes from the high‐resistance circulation of the fetus to the low‐resistance circulation seen in the

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1959.tb16046.x

出版商:Blackwell Publishing Ltd    

年代:1959

数据来源: WILEY

摘要:

SummaryThe functional residual capacity (VFRc) was measured in ten normal adults and 23 normal children (11 girls and 12 boys), ranging in age from 6‐15 years by a closed circuit method with helium as the test gas. Three assays, with some hours' to severa1 days' interval, have shown a day‐to‐day variation of about ±6% in the three groups (±7.5% for the adults, ±3.7% for the boys and ±5.8% for t

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1959.tb16047.x

出版商:Blackwell Publishing Ltd    

年代:1959

数据来源: WILEY

摘要:

SummaryReport of a 13‐year‐old girl with progressive ataxia starting at the age of 4 years, and later also oculo‐cutaneous telangiectases. Points of divergence from the findings in ataxia‐telangiectaaia are di

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1959.tb16048.x

出版商:Blackwell Publishing Ltd    

年代:1959

数据来源: WILEY