Abstract:
:Using data from seven malformation monitoring systems around the world, the feasibility of monitoring fresh dominant mutations using skeletal dysplasias was explored. Based on a total of over 9.5 million births, 1500 infants with skeletal dysplasias were identified (16 per 100,000). In spite of efforts to get exact diagnoses, an average of 21% were unspecified. Comparisons of rates of specific diagnoses in different programmes suggested that classification differed. By analysing maternal age distribution, estimates were made of the proportion of fresh mutations in different subgroups: conditions regarded as dominant (achondroplasia, thanatophoric dysplasia, spondyloepiphyseal dysplasia) were estimated to consist of 58% fresh mutations--some of the remaining cases were inherited, others were probably misclassified. Among conditions regarded as recessive, only 5% were estimated to be truly dominant mutations. In the total group of skeletal dysplasias, 21% were estimated to be fresh dominant mutations and if osteogenesis imperfecta were excluded, the figure was 31%. By power analyses it was shown that equal monitoring power may be obtained by a programme covering about 45,000 births per year with intensive diagnosis of each individual case of skeletal dysplasia and a programme some three times greater where no specific diagnoses are obtained. An increasing trend in the occurrence of skeletal dysplasias was seen but probably explained by changing ascertainment. An impact of antenatal diagnosis resulting in a decrease in occurrence was also apparent in some programmes.
journal_name
Int J Epidemioljournal_title
International journal of epidemiologyauthors
Källén B,Knudsen LB,Mutchinick O,Mastroiacovo P,Lancaster P,Castilla E,Robert Edoi
10.1093/ije/22.1.107subject
Has Abstractpub_date
1993-02-01 00:00:00pages
107-15issue
1eissn
0300-5771issn
1464-3685journal_volume
22pub_type
杂志文章abstract:BACKGROUND:The health benefits of physical activity are well established, but the overall amount of physical activity associated with cardiovascular and other health outcomes, and whether the relationships are similar in men and women and at different ages is still debated. This may be partly related to different metho...
journal_title:International journal of epidemiology
pub_type: 杂志文章
doi:10.1093/ije/dyl079
更新日期:2006-08-01 00:00:00
abstract:BACKGROUND:Samples of railroad male employees aged 40-59 were examined from companies operating in the northwest quadrant of the US in the late 1950s (n = 2571), and in Rome and surroundings. Italy in the early 1960s (n = 768) in an international co-operative study on cardiovascular diseases. METHODS:A number of cardi...
journal_title:International journal of epidemiology
pub_type: 杂志文章,多中心研究
doi:10.1093/ije/24.3.515
更新日期:1995-06-01 00:00:00
abstract::To investigate the possible association between Alzheimer's disease and late maternal age at index birth, we conducted a collaborative re-analysis of existing case-control data sets. Of the 11 studies participating in the EURODEM project, four were included in the analyses regarding maternal age. In all four studies, ...
journal_title:International journal of epidemiology
pub_type: 杂志文章,meta分析
doi:10.1093/ije/20.supplement_2.s21
更新日期:1991-01-01 00:00:00
abstract::Spontaneous losses between the 5th and 27th weeks of pregnancy were measured in a prospective study of 32 123 women whose contraceptive history around the time of conception was known. Diaphragm use prior to conception was associated with a significant reduction in second-trimester losses, after taking into account th...
journal_title:International journal of epidemiology
pub_type: 杂志文章
doi:10.1093/ije/9.1.49
更新日期:1980-03-01 00:00:00
abstract:BACKGROUND:To investigate the relative contributions of prenatal complications, perinatal characteristics, neonatal morbidities and socio-economic conditions on the occurrence of motor, sensory, cognitive, language and psychological disorders in a large longitudinal preterm infant population during the first 7 years af...
journal_title:International journal of epidemiology
pub_type: 杂志文章,多中心研究
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更新日期:2019-02-01 00:00:00
abstract::This paper discusses the application of Popper's philosophy to epidemiological research, examining in particular the problems of replication without risk of refutation, of mistaking statistical sophistication for deductive inference, and of dealing with causality at a general level. An example is given of a Popperian ...
journal_title:International journal of epidemiology
pub_type: 杂志文章
doi:10.1093/ije/4.3.159
更新日期:1975-09-01 00:00:00
abstract:BACKGROUND:An ideological climate has persisted in Korea that has discouraged public discussion of social inequalities. Thus studies on inequalities in mortality remain undeveloped. This study is to examine age- and cause-specific socioeconomic mortality differentials for both men and women representative of the Korean...
journal_title:International journal of epidemiology
pub_type: 杂志文章
doi:10.1093/ije/dyg244
更新日期:2004-04-01 00:00:00
abstract:BACKGROUND:There is considerable interest in the possible role of nitrate in gastric carcinogenesis, but little information on nitrate intake around the world. This is the first study to give comprehensive standardised data on nitrate excretion as a marker of intake, using 48 worldwide population samples. METHODS:Urin...
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pub_type: 杂志文章,多中心研究
doi:10.1093/ije/25.3.505
更新日期:1996-06-01 00:00:00
abstract::The relationship between risk of cervical neoplasia and various sociodemographic, reproductive and sexual characteristics was studied in 126 women (cases) with an abnormal Papanicolaou test finding and 1914 controls seen at the same clinic in which cases were detected but showing no evidence of cervical neoplasia. All...
journal_title:International journal of epidemiology
pub_type: 杂志文章
doi:10.1093/ije/15.4.477
更新日期:1986-12-01 00:00:00
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journal_title:International journal of epidemiology
pub_type: 杂志文章
doi:10.1093/ije/dyt072
更新日期:2013-06-01 00:00:00
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journal_title:International journal of epidemiology
pub_type: 杂志文章
doi:10.1093/ije/20.1.199
更新日期:1991-03-01 00:00:00
abstract:BACKGROUND:Cost effective use of new vaccines against pneumococcal disease in children requires detailed information about the local epidemiology of pneumococcal infections. METHODS:Data on 393 culture-confirmed cases of invasive pneumococcal infection in children (<17 years) hospitalized in Swiss paediatric clinics w...
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pub_type: 临床试验,杂志文章,多中心研究
doi:10.1093/ije/27.6.1101
更新日期:1998-12-01 00:00:00
abstract::In 1983 and 1984, surveys were conducted in four Chinese population samples, urban and rural for both Beijing and Guangzhou, as part of PRC-USA collaborative research in cardiovascular and cardiopulmonary epidemiology. Serum total cholesterol (TC), HDL-cholesterol (HDL-C), and triglycerides (TG) were measured in 4280 ...
journal_title:International journal of epidemiology
pub_type: 杂志文章
doi:10.1093/ije/21.5.893
更新日期:1992-10-01 00:00:00
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journal_title:International journal of epidemiology
pub_type: 杂志文章
doi:10.1093/ije/dyx188
更新日期:2017-12-01 00:00:00
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journal_title:International journal of epidemiology
pub_type: 杂志文章
doi:10.1093/ije/dyv064
更新日期:2017-04-01 00:00:00
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journal_title:International journal of epidemiology
pub_type: 杂志文章
doi:10.1093/ije/dyv042
更新日期:2015-08-01 00:00:00
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journal_title:International journal of epidemiology
pub_type: 杂志文章
doi:10.1093/ije/7.3.249
更新日期:1978-09-01 00:00:00
abstract::The effects of household exposure to cigarette smoke on hospitalization and incidence of respiratory illness were examined among 2227 children at Chang-Ning District, Shanghai Municipality, People's Republic of China. The passive smoking quantity was estimated by total daily cigarette consumption of family members and...
journal_title:International journal of epidemiology
pub_type: 杂志文章
doi:10.1093/ije/17.2.348
更新日期:1988-06-01 00:00:00
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journal_title:International journal of epidemiology
pub_type: 杂志文章
doi:10.1093/ije/dyz062
更新日期:2019-12-01 00:00:00
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journal_title:International journal of epidemiology
pub_type: 杂志文章
doi:10.1093/ije/27.5.833
更新日期:1998-10-01 00:00:00
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journal_title:International journal of epidemiology
pub_type: 杂志文章
doi:10.1093/ije/12.1.77
更新日期:1983-03-01 00:00:00
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journal_title:International journal of epidemiology
pub_type: 杂志文章
doi:10.1093/ije/13.4.428
更新日期:1984-12-01 00:00:00
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journal_title:International journal of epidemiology
pub_type: 杂志文章
doi:10.1093/ije/26.1.190
更新日期:1997-02-01 00:00:00
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journal_title:International journal of epidemiology
pub_type: 杂志文章
doi:10.1093/ije/dym281
更新日期:2008-04-01 00:00:00
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journal_title:International journal of epidemiology
pub_type: 杂志文章
doi:10.1093/ije/22.4.592
更新日期:1993-08-01 00:00:00
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journal_title:International journal of epidemiology
pub_type: 杂志文章
doi:10.1093/ije/5.4.327
更新日期:1976-12-01 00:00:00
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journal_title:International journal of epidemiology
pub_type: 杂志文章
doi:10.1093/ije/25.3.658
更新日期:1996-06-01 00:00:00
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journal_title:International journal of epidemiology
pub_type: 杂志文章
doi:10.1093/ije/27.2.208
更新日期:1998-04-01 00:00:00
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journal_title:International journal of epidemiology
pub_type: 杂志文章
doi:10.1093/ije/25.2.259
更新日期:1996-04-01 00:00:00
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journal_title:International journal of epidemiology
pub_type: 杂志文章,评审
doi:10.1093/ije/17.2.298
更新日期:1988-06-01 00:00:00