摘要:

A study of Huntington's Chorea in South Wales has shown a prevalence of 7.61 per 100,000 in the counties of Gwent and Glamorgan, with a total population of 1.7 million. Heterozygote frequency is close to 1 in 5,000. Total ascertainment within this area has been attempted, and experience since conclusion of the study has shown no patients who have been omitted apart from those originating outside the area and those new cases with no living affected relatives. Analysis of migration patterns suggests that around 20 % of cases in each generation arise from outside Glamorgan and Gwent and that around 12 % of first‐degree relatives of indigenous cases have left the area. The survey has formed the initial phase of a long‐term prospective study of the disease involving systematic genetic counselling of all high‐risk individuals and regular surveillance to monitor possible trends in future preva

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00701.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

An unusual form of Metachromatic Leukodystrophy (MLD) has been described in three siblings who are the sole children of related parents of Iranian origin. Clinical progression in the three siblings was insidious and protracted, the hallmark of the condition being a dystonia mainly induced by intention and manifested by dysarthria and torsion spasm of the neck, spine and extremities. The dysarthria sometimes culminated in apparent choreo‐athetosis. Laboratory studies included positive sural nerve biopsies, prolonged nerve conduction times and a marked deficiency of arylsulfatase A in the urine, leukocytes and fibroblasts. The parents presented no clinical manifestations, but the arylsulfatase A activity in both was reduced by 50

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00702.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

The Xq fragile site found in males having non‐specific X‐linked mental retardation was studied by varying the chemical and physical parameters of leukocyte cultures. Methionine was shown to be required for marker expression in both medium 199 and MEM. Banding studies indicated that methionine does not function as a stabilizing factor for the fragile site on

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00703.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

Sjögren‐Larsson syndrome (SLS), originally described in Sweden, has been studied in a countrywide survey. A total of 58 SLS patients in 41 families were traced, 35 of them still alive. Thirty patients, 23 alive and seven deceased, have not been reported earlier. The mean incidences per 100,000 in the years 1901–1977 were 0.6 in the whole of Sweden, 10.2 in the county of Västerbotten and 2.7 per 100,000 in the county of Norrbotten. In the above‐mentioned areas, the prevalence figures for SLS on 31st December 1978 were estimated to be 0.4, 8.3 and 2.6 per 100,000 persons, the frequencies of SLS gene carriers 0.5, 2.0 and 1.0%, and the gene frequencies 0.002, 0.010 and 0.005, respectively. Of the 58 identified Swedish SLS patients, 45 were born in a restricted area in the northeast of

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00704.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

Amnionic fluid alpha‐fetoprotein measurement was employed as a screening test for neural tube defects in a pregnancy only at risk due to advanced maternal age. The alpha‐fetoprotein concentration was elevated more than 10 standard deviations above the mean and was found to be caused by a holoacardium amorphous twin. A normal female fetus was also present. Various causes of elevated alpha‐fetoprotein concentration in amnionic fluid are disc

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00705.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

This paper presents a female patient with a clinical picture of Turner's syndrome and the chromosomal constitution: 45, XO/46, X, del(X)(p11 p22).

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00706.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

In a prospective study, 50 patients hospitalized for psoriasis, 34 patients hospitalized for acute anterior uveitis (AAU) and 29 patients hospitalized for chronic prostatitis, were examined. The expected increased frequencies of HLA B13 and HLA B17 in psoriasis and of HLA B27 in AAU over healthy people were found. No unsuspected association between HLA antigens was observed. Psoriatic patients with peripheral joint affection frequently had affected sacro‐iliac joints and were HLA B27 negative. Joint affection was frequently seen in HLA B27 positive patients with psoriasis or AAU. In the patients with AAU, 12 out of 22 patients positive for HLA B27 exhibited radiographical sacro‐iliitis. This high prevalence of sacroiliitis suggests an interaction between genes predisposing for AAU and sacroiliitis. Asymptomatic sacro‐iliitis was found in both HLA B27 positive and negative patients. The low frequency of clinical symptoms in psoriatic sacro‐iliitis could not be explained by the absence of

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00707.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

Autosomal dominant inheritance with incomplete penetrance of Caffey disease (infantile cortical hyperostosis) is demonstrated in a study of a large kindred with nine affected individuals. This mode of transmission of the disease explains all previously reported families.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00708.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

In a series of 412 patients with Klinefelter's syndrome observed over periods ranging from 1 to 20 years, the frequency of hypostatic ulceration, deep vein thrombosis and pulmonary embolism was found to be raised. The prevalence of past or present hypostatic ulceration was 6 %, which is 20–50 times higher than in the general population. The incidence of deep vein thrombosis in subjects aged between 30 and 70 years was 22.8 cases per 10,000 patient‐years at risk. In community studies the incidence of this condition is around 4 new cases per 10,000 men per year. The frequency of pulmonary embolism was 16 cases per 10,000 patient‐years at risk, compared with an expected figure of 0.9 to 3 cases per 10,000 men per

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00709.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY

摘要:

Aryl hydrocarbon hydroxylase (AHH) inducibility was studied in cultured lymphocytes from 28 monozygotic (MZ) and 19 dizygotic (DZ) twin pairs. The results indicate that the induced level of AHH activity as well as inducibility (expressed as the ratio between levels in induced and non‐induced cells) are inherited. The best (h2) estimate of heritability is 0.7. There was no suggestion that non‐induced AHH activity level is an inherited trait. Inducibility of AHH was not normally distributed and the distribution observed in this limited series might even be trimodal. The results of the study appear to confirm previous reports that AHH inducibility is an inherited trait, and do not exclude the possibility that the major part of the variation is controlled by one lo

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1981.tb00710.x

出版商:Blackwell Publishing Ltd    

年代:1981

数据来源: WILEY