Abstract:
:The development of a molecular genetics diagnostic service over a three year period was studied in a National Health Service region with a population of three million. Starting from a time when few diagnostic applications were possible, the number of disorders and the overall demand had grown rapidly. Conditions for which molecular genetic diagnosis had been provided included Duchenne and Becker muscular dystrophy, myotonic dystrophy, Huntington's disease, and cystic fibrosis. Of 405 requests for diagnosis, 151 (37%) related to determination of carrier state, 187 (46%) to determining the feasibility of future prenatal diagnosis, and 67 (17%) were prenatal diagnostic biopsy samples, almost exclusively of first trimester chorion. DNA samples for future diagnostic use with a wide range of genetic disorders had also been banked. The study showed a need for close integration with clinical genetics services to allow satisfactory genetic counselling and interpretation of risks.
journal_name
BMJjournal_title
BMJ (Clinical research ed.)authors
Meredith AL,Upadhyaya M,Harper PSdoi
10.1136/bmj.297.6652.843subject
Has Abstractpub_date
1988-10-01 00:00:00pages
843-6issue
6652eissn
0959-8138issn
1756-1833journal_volume
297pub_type
杂志文章abstract:OBJECTIVES:To investigate the association between environmental tobacco smoke, plasma cotinine concentration, and respiratory cancer or death. DESIGN:Nested case-control study within the European prospective investigation into cancer and nutrition (EPIC). PARTICIPANTS:303,020 people from the EPIC cohort (total 500,00...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章,多中心研究
doi:10.1136/bmj.38327.648472.82
更新日期:2005-02-05 00:00:00
abstract:OBJECTIVES:To investigate current practice of screening children from abroad for infections after coming to the United Kingdom, and to make recommendations for future practice. DESIGN:A review of literature and a questionnaire sent to all health authorities and boards in the United Kingdom. SETTING:All health authori...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.301.6755.800
更新日期:1990-10-06 00:00:00
abstract:OBJECTIVES:To investigate the feasibility of obtaining signed consent for submission of patient identifiable data to a national clinical audit database and to identify factors influencing the consent process and its success. DESIGN:Feasibility study. SETTING:Seven paediatric intensive care units in England. PARTICIP...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章,多中心研究
doi:10.1136/bmj.38404.650208.AE
更新日期:2005-04-16 00:00:00
abstract:OBJECTIVE:To evaluate risk of late life coronary heart disease associated with being overweight in late middle or old age and to assess whether weight change modifies this risk. DESIGN:Longitudinal study of subjects in the epidemiological follow up study of the national health and nutrition examination survey I. SETT...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.314.7097.1791
更新日期:1997-06-21 00:00:00
abstract:OBJECTIVES:To provide insight into factors that contribute to the anxiety reported in a quantitative study of the psychological effect of screening for type 2 diabetes. To explore expectations of and reactions to the screening experience of patients with positive, negative, and intermediate results. DESIGN:Prospective...
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.39308.392176.BE
更新日期:2007-09-08 00:00:00
abstract:OBJECTIVE:To systematically review measures of data quality in electronic patient records (EPRs) in primary care. DESIGN:Systematic review of English language publications, 1980-2001. DATA SOURCES:Bibliographic searches of medical databases, specialist medical informatics databases, conference proceedings, and instit...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章,评审
doi:10.1136/bmj.326.7398.1070
更新日期:2003-05-17 00:00:00
abstract:OBJECTIVES:To investigate the cost effectiveness of cyclo-oxygenase-2 (COX 2) selective inhibitors and traditional non-steroidal anti-inflammatory drugs (NSAIDs), and the addition of proton pump inhibitors to these treatments, for people with osteoarthritis. DESIGN:An economic evaluation using a Markov model and data ...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.b2538
更新日期:2009-07-14 00:00:00
abstract:OBJECTIVE:To assess the safety and effectiveness of eflornithine as first line treatment for human African trypanosomiasis. DESIGN:Cohort study. SETTING:Control programme in Ibba, southern Sudan. PARTICIPANTS:1055 adults and children newly diagnosed with second stage disease in a 16 month period. MAIN OUTCOME MEASU...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.39485.592674.BE
更新日期:2008-03-29 00:00:00
abstract:OBJECTIVES:To compare the effectiveness of an early switch to oral antibiotics with the standard 7 day course of intravenous antibiotics in severe community acquired pneumonia. DESIGN:Multicentre randomised controlled trial. SETTING:Five teaching hospitals and 2 university medical centres in the Netherlands. PARTICI...
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.38993.560984.BE
更新日期:2006-12-09 00:00:00
abstract:OBJECTIVE:To assess the cost-effectiveness of low dose statins for primary prevention of vascular disease, incorporating current prices, non-adherence (reduced clinical efficacy while maintaining healthcare costs), and the results of the recently published JUPITER trial. DESIGN:Cost-effectiveness analysis using a Mark...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.d1672
更新日期:2011-03-30 00:00:00
abstract::Telephone helplines are an effective way of dealing with health related incidents in which large numbers of people need personal counselling or information for reassurance or case finding. Helplines often have to be set up at short notice, which is labour intensive and makes recruitment of appropriate staff difficult....
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章,评审
doi:10.1136/bmj.309.6946.44
更新日期:1994-07-02 00:00:00
abstract:OBJECTIVES:To investigate the association between contemporary combined hormonal contraceptives (including progestogen types in combined preparations and all progestogen-only products) and overall and specific types of ovarian cancer. DESIGN:Prospective, nationwide cohort study. SETTING:Denmark, 1995-2014. PARTICIPA...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.k3609
更新日期:2018-09-26 00:00:00
abstract:OBJECTIVES:To determine the effectiveness of tai chi interventions compared with aerobic exercise, a current core standard treatment in patients with fibromyalgia, and to test whether the effectiveness of tai chi depends on its dosage or duration. DESIGN:Prospective, randomized, 52 week, single blind comparative effec...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章,随机对照试验
doi:10.1136/bmj.k851
更新日期:2018-03-21 00:00:00
abstract:OBJECTIVE:To investigate the independent effects of intake of fruit and vegetables on incidence of type 2 diabetes. DESIGN:Systematic review and meta-analysis. DATA SOURCES:Medline, Embase, CINAHL, British Nursing Index (BNI), and the Cochrane library were searched for medical subject headings and keywords on diabete...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章,meta分析,评审
doi:10.1136/bmj.c4229
更新日期:2010-08-18 00:00:00
abstract::The numbers of patients being admitted to hospital with aortic aneurysms have increased recently. A study was carried out to try to find out whether this was a true increase in incidence or whether it could be attributable to more accurate diagnosis and better surgical techniques. From analyses of routine statistics i...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.298.6665.33
更新日期:1989-01-07 00:00:00
abstract::Objective To determine the attributable risk of community acquired pneumonia on incidence of heart failure throughout the age range of affected patients and severity of the infection.Design Cohort study.Setting Six hospitals and seven emergency departments in Edmonton, Alberta, Canada, 2000-02.Participants 4988 adults...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.j413
更新日期:2017-02-13 00:00:00
abstract:OBJECTIVE:To compare the risk of detention under the Mental Health Act 1983 in a representative group of people with psychotic disorders from different ethnic groups. SETTING:Two defined geographical areas in south London. DESIGN:Annual period prevalent cases of psychosis were identified in 1993 in the study areas fr...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.312.7030.533
更新日期:1996-03-02 00:00:00
abstract:OBJECTIVES:To support already established epidemiological links between inmates of Glenochil prison positive for HIV infection by using molecular techniques and thus provide evidence of the extent of acquisition during a recent outbreak of the disease resulting from needle sharing. To identify possible sources of the o...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.314.7092.1446
更新日期:1997-05-17 00:00:00
abstract:OBJECTIVE:To examine the association between obstetric epidural anaesthesia and subsequent long term problems. DESIGN:Postal questionnaire on health problems after childbirth linked to maternity case note data. SETTING:Maternity hospital in Birmingham. SUBJECTS:11701 women who delivered their most recent child durin...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.304.6837.1279
更新日期:1992-05-16 00:00:00
abstract:OBJECTIVE:To assess the effects of preventive home visits to elderly people living in the community. DESIGN:Systematic review. SETTING:15 trials retrieved from Medline, Embase, and the Cochrane controlled trial register. MAIN OUTCOME MEASURES:Physical function, psychosocial function, falls, admissions to institution...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章,评审
doi:10.1136/bmj.320.7237.754
更新日期:2000-03-18 00:00:00
abstract:OBJECTIVE:To determine whether abnormal results for liver function tests are investigated in primary care and findings on full investigation. DESIGN:Retrospective audit and prospective clinical investigation. SETTING:University hospital and surrounding general practices serving around 330 000 people. SUBJECTS:Adults...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.322.7281.276
更新日期:2001-02-03 00:00:00
abstract:OBJECTIVES:To examine whether British South Asian children differ in insulin resistance, adiposity, and cardiovascular risk profile from white children. DESIGN:Cross sectional study. SETTING:Primary schools in 10 British towns. PARTICIPANTS:British children aged 8 to 11 years (227 South Asian and 3415 white); 73 Sou...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.324.7338.635
更新日期:2002-03-16 00:00:00
abstract:OBJECTIVE:To estimate changes in the risk of autism and assess the relation of autism to the mumps, measles, and rubella (MMR) vaccine. DESIGN:Time trend analysis of data from the UK general practice research database (GPRD). SETTING:General practices in the United Kingdom. SUBJECTS:Children aged 12 years or younger...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.322.7284.460
更新日期:2001-02-24 00:00:00
abstract::Fetomaternal haemorrhage was studied after 68 consecutive fetal intravascular transfusions performed in 20 patients with Rh isoimmunisation. alpha Fetoprotein concentration was assayed in maternal blood taken before, and immediately after each transfusion and three and 24 hours later. An increase of 50% or more in the...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.297.6660.1379
更新日期:1988-11-26 00:00:00
abstract:OBJECTIVE:To compare the effects of treatments for coronavirus disease 2019 (covid-19). DESIGN:Living systematic review and network meta-analysis. DATA SOURCES:WHO covid-19 database, a comprehensive multilingual source of global covid-19 literature, up to 3 December 2020 and six additional Chinese databases up to 12 ...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.m2980
更新日期:2020-07-30 00:00:00
abstract:OBJECTIVES:To determine the clinical and radiological features of severe acute respiratory syndrome (SARS) and to evaluate the accuracy of the World Health Organization's guidelines on defining cases of SARS. DESIGN:Prospective observational study. SETTING:A newly set up SARS screening clinic in the emergency departm...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.326.7403.1354
更新日期:2003-06-21 00:00:00
abstract::Objective To estimate the incidence and prevalence of resistant hypertension among a UK population treated for hypertension from 1995 to 2015.Design Cohort study.Setting Electronic health records from the UK Clinical Practice Research Datalink in primary care.Participants 1 317 290 users of antihypertensive drugs with...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.j3984
更新日期:2017-09-22 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:OBJECTIVE:To determine if the Food Standards Agency nutrient profiling system (FSAm-NPS), which grades the nutritional quality of food products and is used to derive the Nutri-Score front-of-packet label to guide consumers towards healthier food choices, is associated with mortality. DESIGN:Population based cohort stu...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.m3173
更新日期:2020-09-16 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