ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1955.tb01340.x

出版商:Blackwell Publishing Ltd    

年代:1955

数据来源: WILEY

摘要:

SummarySib pairs from twenty‐six Northern Ireland families with at least one member affected by ‘autosomal limb‐girdle muscular dystrophy’ have been examined for linkage between the dystrophy and sex, colour vision, taste sensitivity to phenylthiocarbamide,ABO, Rhesus, Lewis (a),P, MNSand salivary secretion ofABantigens.The data present no definite signs of linkage; the only significant score obtained by Penrose's sib‐pair method was for Lewis (a) in 128 sib pairs from families in which affected members had no face involvement. In view of the small amount of information available in this isolated instance and the relatively large number of tests made, the evidence for linkage with Lewis (a) in this group of families is unc

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1955.tb01341.x

出版商:Blackwell Publishing Ltd    

年代:1955

数据来源: WILEY

摘要:

SummaryIn all data in which the response is all or none the application of tests of significance should take account of inevitable discontinuities and of possible divergencies from the normal model. The present paper discusses the application of the probability integral transform to discontinuous data in order that tests of significance based on assumptions of continuity can be carried out.

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1955.tb01342.x

出版商:Blackwell Publishing Ltd    

年代:1955

数据来源: WILEY

摘要:

SummaryThe purpose of the investigation was to study whether blood‐group incompatibility between partners is of importance as a causal factor in disturbed fertility.The material comprises:385 marriages in which all–and at least four–pregnancies had terminated with live births.269 marriages in which, for unknown reasons, at least two pregnancies terminated in intrauterine death of the foetus and abortion.83 marriages, childless for unknown reasons.No difference was found between the three series with respect to the frequency ofABOandRhincompatibility. Nor did the observed distribution of mating classes forMN, Lewis blood groups or secretor and non‐secretor characteristics deviate from that expected.A statistically highly significant discrepancy was found in the intra‐uterine death series and subseries thereof: the frequency ofABOincompatible matings in mating class husbandRh+: wifeRh+ was about 50%, whereas in matings involving at least oneRh—partner the frequency ofABOincompatible matings was about 20 %. Some implications of this finding ar

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1955.tb01343.x

出版商:Blackwell Publishing Ltd    

年代:1955

数据来源: WILEY

摘要:

Summary1. Cystine, lysine and arginine determinations have been carried out on urines from twenty‐eight cystinuric patients and 121 of their relatives. Urines from 250 unselected individuals have also been examined. The cystine was determined polarographically and the lysine and arginine microbiologically. The urines have also been examined for amino‐acids by two‐dimensional paper chromatography and by paper ionophoresis at pH 11‐5.2. There is a high positive correlation between the cystine and lysine contents over the whole range which extends in the case of cystine from 20 up to 800 mg/g. of creatinine and of lysine from less than 25 up to 1800 mg./g. of creatinine.3. The arginine content of the urine remains at normal (<25 mg./g. creatinine) or near normal values until the cystine content reaches about 250 mg./g. creatinine and the lysine reaches about 550 mg./g. creatinine. Above these values large increases in arginine excretion up to 1800 mg./g. creatinine may be observed.4. It is suggested that there is normally a renal tubular resorptive mechanism which at one stage is common to and specific for cystine, lysine, arginine and ornithine, and that this mechanism is defective in cystinuria. When the process fails completely or nearly completely the four amino‐acids appear in the urine in large amounts. When it is only partially deranged, arginine and possibly ornithine are resorbed preferentially to cystine and lysine.The authors would like to thank Miss Barbara Warland and Miss Robin Worthington for considerable assistance with the family case work, and Mrs Ruth Jacobs and Mr B. Cohen for much help in the chemical determinations.Miss E. B. Robson was in receipt of a research grant from the Medical Research Council.The polarograph used in this work was purchased with a grant from the Central Research Fund of the University

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1955.tb01344.x

出版商:Blackwell Publishing Ltd    

年代:1955

数据来源: WILEY

摘要:

SummaryA statistical study was carried out on 377 families containing children with congenital heart disease, seen and diagnosed in the Cardiac Department of Guy's Hospital. The patients were divided into three main clinical groups: (1) those with Fallot's tetralogy; (2), (3) and (4) those with other forms of cyanotic heart disease; and (5) and (6) those with acyanotic heart disease. Five cases of mongolism and two following maternal rubella were excluded.The following conclusions were reached:I. There was an excess of affected children with Fallot's tetralogy born between maternal ages 40 and 44 years; otherwise no effect of maternal age was evident. Paternal age and birth rank had no effect.II. Although the seasonal incidence of congenital heart disease was the same as in the general population, there was a significant difference of seasonal incidence between males and females.III. There was a significant excess of males among the cases of Fallot's tetralogy, coarctation of the aorta, transposition of the great vessels, and, especially, congenital aortic stenosis. The aorta of the male appears to be more vulnerable to congenital and acquired defects than that of the female.IV. The incidence of congenital heart disease among the sibs born after the propositus was about twenty times the incidence in the general population (2 per 100 as against 1 per 1000 at the age of 10 years).V. No association was observed between twinning and congenital heart disease.VI. There was no excess of stillbirths, miscarriages or abortions, nor was there any concentration of disturbed pregnancies.VII. Search was made for a period of relative sterility preceding or following the birth of the affected child but convincing evidence of this was not found.VIII. There were twelve examples of associated malformations in the 377 propositi, cleft palate figuring three times, congenital club foot, mental defect and hemivertebra twice each. The incidence of malformations, other than congenital heart disease, in the sibs of the propositi was 2 %.IX. The incidence of congenital heart disease in relatives other than sibs was investigated.X. The incidence of first‐cousin marriages among parents was 0.8%, a figure not significantly different from what could be expected in a hospital population (0.4%) yet identical with the percentage to be expected on the hypothesis that congenital heart disease results from simple autosomal recessive inheritance.XI. Maternal infections are of importance only in rare cases.XII. There was no evidence of limitation of family siz

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1955.tb01345.x

出版商:Blackwell Publishing Ltd    

年代:1955

数据来源: WILEY

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1955.tb01346.x

出版商:Blackwell Publishing Ltd    

年代:1955

数据来源: WILEY

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1955.tb01347.x

出版商:Blackwell Publishing Ltd    

年代:1955

数据来源: WILEY