Abstract:
OBJECTIVES:To assess the acceptability of screening newborn boys for Duchenne muscular dystrophy. DESIGN:Screening is offered on the basis of informed consent in response to an information sheet entitled "A new test for baby boys--Do you want it?" The programme includes a prospective long term evaluation of family responses to early diagnosis and a comparison of their experiences and perceptions with those families who have undergone the later traditional clinical diagnosis. SETTING:All maternity units throughout Wales. Samples obtained through screening programme for phenylketonuria and congenital hypothyroidism. SUBJECTS:Those families whose son had a positive screening test. MAIN OUTCOME MEASURES:Creatine kinase activity. Venous blood test to confirm positive result. Molecular genetic mutation analysis. Muscle biopsy and dystrophin analysis. Qualitative measure of satisfaction among affected families. RESULTS:34,219 Boys have been screened and nine affected families have been identified. Eight families were very positive about the programme. Three chose not to complete the diagnostic process. CONCLUSION:The programme should continue to permit a full evaluation of the issues involved and should serve as a model for other initiatives within the community for genetic disease.
journal_name
BMJjournal_title
BMJ (Clinical research ed.)authors
Bradley DM,Parsons EP,Clarke AJdoi
10.1136/bmj.306.6874.357subject
Has Abstractpub_date
1993-02-06 00:00:00pages
357-60issue
6874eissn
0959-8138issn
1756-1833journal_volume
306pub_type
杂志文章abstract:OBJECTIVES:To observe one general practice's attempt to reduce prescribing costs on becoming third wave fundholders through the introduction of a generic formulary applied to all new and repeat prescribing. To assess the impact on patients and prescribing patterns. DESIGN:An observational study using interviews with p...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.310.6978.505
更新日期:1995-02-25 00:00:00
abstract:OBJECTIVES:To compare outcome and costs of general practitioners, senior house officers, and registrars treating patients who attended accident and emergency department with problems assessed at triage as being of primary care type. DESIGN:Prospective intervention study which was later costed. SETTING:Inner city acci...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.312.7042.1340
更新日期:1996-05-25 00:00:00
abstract:OBJECTIVE:To find out what inpatients with advanced cancer who are receiving palliative care think about the effect of thromoprophylaxis on overall quality of life. DESIGN:Qualitative study using audiotaping of semistructured interviews. SETTING:Regional cancer centre in Wales. PARTICIPANTS:28 inpatients with advanc...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.38733.616065.802
更新日期:2006-03-11 00:00:00
abstract:OBJECTIVE:To determine the prevalence of sexually transmitted diseases in patients with normal and abnormal cervical smears. DESIGN:A prospective study of asymptomatic women with normal cervical smears attending their general practitioner and newly referred patients with abnormal smears attending a colposcopy clinic. ...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.302.6768.82
更新日期:1991-01-12 00:00:00
abstract:OBJECTIVE:To obtain data on sexual contact between doctors and their patients. DESIGN:Anonymous questionnaire with 17 items sent to all working gynaecologists (n = 595) and all ear, nose, and throat specialists (n = 380) in the Netherlands. RESULTS:Response rate was 74%; a total 64 doctors gave a reason for not compl...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.304.6841.1531
更新日期:1992-06-13 00:00:00
abstract::Aside from email and the world wide web, there are several other systems for distributing information on the Internet. Telnet is a system that allows you to log on to a remote computer from anywhere on the Internet and affords access to many useful biomedical sites on the Internet. File transfer protocol (FTP) is a me...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.311.7020.1626
更新日期:1995-12-16 00:00:00
abstract::In order to determine whether the loss in bone density seen in users of depot medroxyprogesterone acetate is reversible, a comparative study was undertaken in three groups of women. Group 1 consisted of 14 women who had used the contraceptive for at least 3 years and then discontinued use. Group 2 was 22 longterm us...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.308.6923.247
更新日期:1994-01-22 00:00:00
abstract:OBJECTIVE:To estimate the risk of acute myocardial infarction (AMI) or stroke in adults with non-alcoholic fatty liver disease (NAFLD) or non-alcoholic steatohepatitis (NASH). DESIGN:Matched cohort study. SETTING:Population based, electronic primary healthcare databases before 31 December 2015 from four European coun...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.l5367
更新日期:2019-10-08 00:00:00
abstract:OBJECTIVE:To determine the association between exposure to radiotherapy for the treatment of prostate cancer and subsequent second malignancies (second primary cancers). DESIGN:Systematic review and meta-analysis of observational studies. DATA SOURCES:Medline and Embase up to 6 April 2015 with no restrictions on year...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章,meta分析,评审
doi:10.1136/bmj.i851
更新日期:2016-03-02 00:00:00
abstract:OBJECTIVE:To assess the impact of a theoretically based sex education programme (SHARE) delivered by teachers compared with conventional education in terms of conceptions and terminations registered by the NHS. DESIGN:Follow-up of cluster randomised trial 4.5 years after intervention. SETTING:NHS records of women who...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1136/bmj.39014.503692.55
更新日期:2007-01-20 00:00:00
abstract:OBJECTIVE:To assess the role of rhinoviruses in elderly people living in the community. DESIGN:Prospective community based surveillance of elderly people, without intervention. Subjects were telephoned weekly to identify symptomatic upper respiratory tract infections. Symptoms and impact of illnesses were monitored, a...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.313.7065.1119
更新日期:1996-11-02 00:00:00
abstract::Elderly and disabled people have been led to expect great improvements in the quality of community care after April 1993. The choice to live safely at home is to be offered as an alternative to residential care. The financial and organisational relationships are all intended to support this in practice. The Tomlinson ...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.305.6866.1418
更新日期:1992-12-05 00:00:00
abstract:OBJECTIVES:To examine how insurance companies assess proposals for life assurance from applicants with raised cholesterol concentrations and to determine the excess mortality rating applied. DESIGN:Survey of 49 companies underwriting term life assurance. SETTING:United Kingdom. SUBJECTS:Four fictional men aged 30 se...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.302.6781.891
更新日期:1991-04-13 00:00:00
abstract:OBJECTIVE:To establish whether there is evidence of the efficacy of homoeopathy from controlled trials in humans. DESIGN:Criteria based meta-analysis. Assessment of the methodological quality of 107 controlled trials in 96 published reports found after an extensive search. Trials were scored using a list of predefined...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章,meta分析
doi:10.1136/bmj.302.6772.316
更新日期:1991-02-09 00:00:00
abstract:OBJECTIVE:To quantify an association between acute kidney injury and use of high potency statins versus low potency statins. DESIGN:Retrospective observational analysis of administrative databases, using nine population based cohort studies and meta-analysis. We performed as treated analyses in each database with a ne...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章,meta分析,多中心研究
doi:10.1136/bmj.f880
更新日期:2013-03-18 00:00:00
abstract:OBJECTIVE:To study the comparative importance of environment and genes in the development of islet cell autoimmunity associated with insulin dependent diabetes mellitus. DESIGN:Population based study of diabetic twins. SETTING:Danish population. SUBJECTS:18 monozygotic and 36 dizygotic twin pairs with one or both pa...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.314.7094.1575
更新日期:1997-05-31 00:00:00
abstract:OBJECTIVES:To investigate the effect of milk supplementation on total body bone mineral acquisition in adolescent girls. DESIGN:18 month, open randomised intervention trial. SUBJECTS:82 white girls aged 12.2 (SD 0.3) years, recruited from four secondary schools in Sheffield. INTERVENTION:568 ml (one pint) of whole o...
journal_title:BMJ (Clinical research ed.)
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1136/bmj.315.7118.1255
更新日期:1997-11-15 00:00:00
abstract:OBJECTIVE:To determine the relative contribution of decline in bone density to the increase in risk of hip fracture with age in men and women. DESIGN:Incidence data of hip fracture from the general population were combined with the bone density distribution in a sample from the same population and with a risk estimate...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.315.7102.221
更新日期:1997-07-26 00:00:00
abstract:OBJECTIVES:To document the extent to which maternity data are collected and how they are recorded, and to identify problems that may affect their availability throughout the NHS. METHODS:Postal survey in September 1997 with structured questionnaires. SETTING:207 NHS trusts with maternity units in England. PARTICIPAN...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.319.7210.619
更新日期:1999-09-04 00:00:00
abstract:OBJECTIVES:To investigate whether routinely collected data from hospital episode statistics could be used to identify the gynaecologist Rodney Ledward, who was suspended in 1966 and was the subject of the Ritchie inquiry into quality and practice within the NHS. DESIGN:A mixed scanning approach was used to identify se...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章,多中心研究
doi:10.1136/bmj.38377.675440.8F
更新日期:2005-04-23 00:00:00
abstract:OBJECTIVE:To test the hypothesis that hydroxymethyl glutaryl coenzyme A reductase inhibitors (statins) may decrease the risk of community acquired pneumonia. DESIGN:Population based case-control study. SETTING:Group Health, a large integrated healthcare delivery system. Population Immunocompetent, community dwelling ...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.b2137
更新日期:2009-06-16 00:00:00
abstract:OBJECTIVE:To investigate associations between maternal overweight and obesity and infant mortality outcomes, including cause-specific mortality. DESIGN:Population based cohort study. SETTING AND PARTICIPANTS:1,857,822 live single births in Sweden 1992-2010. MAIN OUTCOME MEASURES:Associations between maternal body ma...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.g6572
更新日期:2014-12-02 00:00:00
abstract::A questionnaire describing five hypothetical patients intending to travel to different countries was sent to 113 general practitioners, who were asked to state which patients they would recommend cholera vaccination to. The response rate was 80%. The general practitioners' recommendations were compared with those of t...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.300.6716.25
更新日期:1990-01-06 00:00:00
abstract:OBJECTIVE:To examine associations between varenicline and the incidence of a range of adverse outcomes. DESIGN:Population based cohort study using within person analyses to control for confounding by indication. SETTING:Whole population of Sweden. PARTICIPANTS:7,917,436 people aged 15 and over, of whom 69,757 were t...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.h2388
更新日期:2015-06-02 00:00:00
abstract:OBJECTIVE:To measure the effect of brief behavioural counselling in general practice on patients' consumption of fruit and vegetables in adults from a low income population. DESIGN:Parallel group randomised controlled trial. SETTING:Primary health centre in a deprived, ethnically mixed inner city area. PARTICIPANTS:...
journal_title:BMJ (Clinical research ed.)
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1136/bmj.326.7394.855
更新日期:2003-04-19 00:00:00
abstract:OBJECTIVE:To evaluate the effectiveness and costs of a multifaceted flexible educational programme aimed at reducing antibiotic dispensing at the practice level in primary care. DESIGN:Randomised controlled trial with general practices as the unit of randomisation and analysis. Clinicians and researchers were blinded ...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1136/bmj.d8173
更新日期:2012-02-02 00:00:00
abstract:OBJECTIVE:To assess the effectiveness of teaching general practitioners skills in brief cognitive behaviour therapy. DESIGN:Parallel group, cluster randomised, controlled trial of an educational package on cognitive behaviour therapy. SETTING:General practices in north London. PARTICIPANTS:84 general practitioner pr...
journal_title:BMJ (Clinical research ed.)
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1136/bmj.324.7343.947
更新日期:2002-04-20 00:00:00
abstract:OBJECTIVE:To determine whether being overweight in childhood increases adult obesity and risk of disease. DESIGN:Prospective cohort study. SETTING:City of Newcastle upon Tyne. PARTICIPANTS:932 members of thousand families 1947 birth cohort, of whom 412 attended for clinical examination age 50. MAIN OUTCOME MEASURES...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.323.7324.1280
更新日期:2001-12-01 00:00:00
abstract:OBJECTIVE:To determine the efficacy of a probiotic drink containing Lactobacillus for the prevention of any diarrhoea associated with antibiotic use and that caused by Clostridium difficile. DESIGN:Randomised double blind placebo controlled study. PARTICIPANTS:135 hospital patients (mean age 74) taking antibiotics. E...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1136/bmj.39231.599815.55
更新日期:2007-07-14 00:00:00
abstract:OBJECTIVE:To investigate whether breast feeding is related to subsequent risk of breast cancer. DESIGN:Population based case-control study designed primarily to investigate the relation between oral contraceptives and risk of breast cancer; data obtained from questionnaires administered by interviewers, general practi...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.307.6895.17
更新日期:1993-07-03 00:00:00