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:OBJECTIVE:To assess predictors of mortality in a population of people prescribed methadone. DESIGN:Retrospective cohort study. SETTING:Geographically defined population in Tayside, Scotland. PARTICIPANTS:2378 people prescribed and dispensed liquid methadone between January 1993 and February 2004. MAIN OUTCOME MEASU...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章,多中心研究
doi:10.1136/bmj.b2225
更新日期:2009-06-16 00:00:00
abstract:OBJECTIVE:To investigate the impact of coexistent psychiatric morbidity on risk of suicide after a suicide attempt. DESIGN:Cohort study with follow-up for 21-31 years. SETTING:Swedish national register based study. PARTICIPANTS:39 685 people (53% women) admitted to hospital for attempted suicide during 1973-82. MAI...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.a2205
更新日期:2008-11-18 00:00:00
abstract:OBJECTIVE:To determine the outcome of administration of neuroleptics to patients with senile dementia of Lewy body type confirmed at necropsy. DESIGN:Retrospective analysis of clinical notes blind to neuropathological diagnosis. SETTING:Specialist psychogeriatric assessment units referring cases for necropsy to a tea...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.305.6855.673
更新日期:1992-09-19 00:00:00
abstract:OBJECTIVE:To compare direct and indirect costs of day and inpatient treatment of acute psychiatric illness. DESIGN:Randomised controlled trial with outcome and costs assessed over 12 months after the date of admission. SETTING:Teaching hospital in an inner city area. SUBJECTS:179 patients with acute psychiatric illn...
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.314.7091.1381
更新日期:1997-05-10 00:00:00
abstract:OBJECTIVES:To assess the long term clinical and cost effectiveness of the diabetes education and self management for ongoing and newly diagnosed (DESMOND) intervention compared with usual care in people with newly diagnosed type 2 diabetes. DESIGN:We undertook a cost-utility analysis that used data from a 12 month, mu...
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.c4093
更新日期:2010-08-20 00:00:00
abstract:OBJECTIVE:To observe the effects of stimulation of the sacral anterior roots on anorectal and low colonic pressures and to programme implanted stimulators to produce defecation. DESIGN:Prospective study of 12 consecutive patients. SETTING:Spinal injuries unit and university gastrointestinal physiology department. PA...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.300.6738.1494
更新日期:1990-06-09 00:00:00
abstract::When oxygen concentrators became available on form FP10 in 1985 the Department of Health and Social Security issued clear guidelines for their prescription for long term treatment. Reassessment of those patients prescribed a concentrator in one district showed that 29 out of 61 patients did not fulfil these criteria. ...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.297.6655.1030
更新日期:1988-10-22 00:00:00
abstract:OBJECTIVES:To identify risk factors predisposing to the development of flucloxacillin associated jaundice. DESIGN:Case-control study. Medical records of cases and controls were reviewed and information recorded on standard data collection forms. SETTING:Alfred Hospital recruiting subjects from Melbourne, Sydney, and ...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.306.6872.233
更新日期:1993-01-23 00:00:00
abstract:OBJECTIVE:To describe mortality by suicide and other causes of death in a group of patients who attempted suicide, and to identify predictive factors. DESIGN:10 year follow up study based on records of suicide attempters in 1980. SETTING:Poisoning treatment centre at a general hospital. SUBJECTS:974 patients aged 15...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.306.6893.1637
更新日期:1993-06-19 00:00:00
abstract:OBJECTIVES:To examine the incidence of suicides due to co-proxamol compared with tricyclic antidepressants and paracetamol, and to compare fatality rates for self poisonings with these drugs. DESIGN:Analysis of routinely collected national and local data on suicides and self poisonings. SETTING:Records of suicides in...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.326.7397.1006
更新日期:2003-05-10 00:00:00
abstract:OBJECTIVES:To compare the costs of admission to a hospital at home scheme with those of acute hospital admission. DESIGN:Cost minimisation analysis within a pragmatic randomised controlled trial. SETTING:Hospital at home scheme in Leicester and the city's three acute hospitals. PARTICIPANTS:199 consecutive patients ...
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.319.7224.1547
更新日期:1999-12-11 00:00:00
abstract::Molecular techniques have revolutionised our knowledge of cell and tissue function in both health and disease. We already have new and powerful treatments based on an understanding of communication between cells by messenger molecules called cytokines. Furthermore, there is great therapeutic promise in defining molecu...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章,评审
doi:10.1136/bmj.314.7075.203
更新日期:1997-01-18 00:00:00
abstract:OBJECTIVES:To review completed trials assessing effect of hormone replacement therapy on subsequent risk of stroke, assessing stroke by pathological type, severity, and outcome. DESIGN:Systematic review of randomised controlled trials identified from the Cochrane Library, Embase, and Medline; reviews; and reference li...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章,meta分析,评审
doi:10.1136/bmj.38331.655347.8F
更新日期:2005-02-12 00:00:00
abstract:OBJECTIVE:To synthesise the views of patients and carers in decision making regarding treatment for chronic kidney disease, and to determine which factors influence those decisions. DESIGN:Systematic review of qualitative studies of decision making and choice for dialysis, transplantation, or palliative care, and them...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章,评审
doi:10.1136/bmj.c112
更新日期:2010-01-19 00:00:00
abstract:OBJECTIVE:To identify the nature and extent of any vocational training deficit within the London initiative zone and investigate the reasons. DESIGN:Collation of statistics and postal questionnaire surveys. SETTING:Thames regions inside and outside the London initiative zone. SUBJECTS:General practice registrars, tr...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.312.7023.97
更新日期:1996-01-13 00:00:00
abstract:OBJECTIVE:To describe the mechanism established by Richmond, Twickenham, and Roehampton Health Authority to manage extracontractual referral requests made on behalf of its resident population and to examine its working in the first three months of the new arrangements. DESIGN:Description of the procedures for managing...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.303.6801.499
更新日期:1991-08-31 00:00:00
abstract:OBJECTIVE:To develop an evidence base for recommendations on the use of atypical antipsychotics for patients with schizophrenia. DESIGN:Systematic overview and meta-regression analyses of randomised controlled trials, as a basis for formal development of guidelines. SUBJECTS:12 649 patients in 52 randomised trials co...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章,meta分析,评审
doi:10.1136/bmj.321.7273.1371
更新日期:2000-12-02 00:00:00
abstract::Currently, clinicians have to make decisions about how to manage pulmonary embolism on the basis of imperfect tests and assessment of odds. Management protocols that inevitably result in large numbers of patients being referred for angiography are unhelpful. Management decisions based on assessment of odds and investi...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章,评审
doi:10.1136/bmj.314.7078.425
更新日期:1997-02-08 00:00:00
abstract:OBJECTIVE:To evaluate the outcome of liver transplantation in patients with alcoholic cirrhosis with respect to selection criteria, survival, and evidence suggesting a return to harmful drinking. DESIGN:Nine year retrospective study. SETTING:Cambridge and King's College Hospital liver transplant programme. SUBJECTS:...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.301.6742.15
更新日期:1990-07-07 00:00:00
abstract:OBJECTIVE:To investigate the long term effectiveness of integrated disease management delivered in primary care on quality of life in patients with chronic obstructive pulmonary disease (COPD) compared with usual care. DESIGN:24 month, multicentre, pragmatic cluster randomised controlled trial SETTING:40 general prac...
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.g5392
更新日期:2014-09-10 00:00:00
abstract::Polls show increasing public interest in advance statements or directives about medical treatment ("living wills") but that few people, apart from Jehovah's Witnesses, carry such documents. Patients' firm, witnessed oral decisions are often sufficient to aid clinical decision making but should still be recorded in med...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.310.6995.1663a
更新日期:1995-06-24 00:00:00
abstract:OBJECTIVE:To characterise the complete case series of influenza A/H7N9 infections as of 27 May 2013, detected by China's national sentinel surveillance system for influenza-like illness. DESIGN:Case series. SETTING:Outpatient clinics and emergency departments of 554 sentinel hospitals across 31 provinces in mainland ...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.f3693
更新日期:2013-06-24 00:00:00
abstract::The studies reviewed here show that the duration and severity of individual episodes of back pain can be lessened, reducing recurrences and their cost in terms of suffering and lost work. Frank examines differential diagnosis; acute, chronic, and intractable pain; and service implications. Modern management emphasises...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章,评审
doi:10.1136/bmj.306.6882.901
更新日期:1993-04-03 00:00:00
abstract:OBJECTIVES: To determine whether late mortality after sepsis is driven predominantly by pre-existing comorbid disease or is the result of sepsis itself. DEIGN: Observational cohort study. SETTING: US Health and Retirement Study. PARTICIPANTS: 960 patients aged ≥65 (1998-2010) with fee-for-service Medicare coverage w...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.i2375
更新日期:2016-05-17 00:00:00
abstract:OBJECTIVE:To determine whether peer review medical audit in a primary care setting changes clinical behaviour in relation to the management of hypertension. DESIGN:Review of medical records in general practices to identify hypertensive patients followed up by assessment of the pre-educational and post-educational mana...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.314.7085.942
更新日期:1997-03-29 00:00:00
abstract:OBJECTIVE:To investigate the risks of adverse pregnancy and birth outcomes for treated and untreated bipolar disorder during pregnancy. DESIGN:Population based cohort study using data from national health registers. SETTING:Sweden. PARTICIPANTS:332,137 women with a last menstrual period anytime after 1 July 2005 and...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.e7085
更新日期:2012-11-08 00:00:00
abstract:OBJECTIVE:To examine the association between warfarin treatment and longitudinal outcomes after ischemic stroke in patients with atrial fibrillation in community practice. DESIGN:Observational study. SETTING:Hospitals (n = 1487) participating in the Get With The Guidelines (GWTG)-Stroke program in the United States, ...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.h3786
更新日期:2015-07-31 00:00:00
abstract:OBJECTIVE:To investigate the association between birth weight of offspring and mortality among fathers and mothers in the west of Scotland. DESIGN:Prospective observational study. PARTICIPANTS:794 married couples in Renfrew district of the west of Scotland. MAIN OUTCOME MEASURES:Mortality from all causes and from ca...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.315.7117.1189
更新日期:1997-11-08 00:00:00
abstract:OBJECTIVE:To determine the long term effects of antibiotic treatment for acute otitis media in young children. DESIGN:Prospective three year follow-up study within the framework of a primary care based, double blind, randomised, placebo controlled trial. SETTING:53 general practices in the Netherlands. PARTICIPANTS:...
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.b2525
更新日期:2009-06-30 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