Abstract:
OBJECTIVE:To assess the performance and impact of a two tier neonatal screening programme for cystic fibrosis based on an initial estimation of immunoreactive trypsinogen followed by direct gene analysis. DESIGN:Four year prospective study of two tier screening strategy. First tier: immunoreactive trypsinogen measured in dried blood spot samples from neonates aged 3-5 days. Second tier: direct gene analysis of cystic fibrosis mutations (delta F508, delta I506, G551D, G542X, and R553X) in samples with immunoreactive trypsinogen concentrations in highest 1% and in all neonates with meconium ileus or family history of cystic fibrosis. SETTING:South Australian Neonatal Screening Programme, Adelaide. SUBJECTS:All 88,752 neonates born in South Australia between December 1989 and December 1993. INTERVENTIONS:Neonates with two identifiable mutations were referred directly for clinical assessment and confirmatory sweat test; infants with only one identifiable mutation were recalled for sweat test at age 3-4 weeks. Parents of neonates identified as carriers of cystic fibrosis mutation were counselled and offered genetic testing. MAIN OUTCOME MEASURES:Identification of all children with cystic fibrosis in the screened population. RESULTS:Of 1004 (1.13%) neonates with immunoreactive trypsinogen > or = 99th centile, 912 (90.8%) had no identifiable mutation. 23 neonates were homozygotes or compound heterozygotes; 69 carried one identifiable mutation, of whom six had positive sweat tests. Median age at clinical assessment for the 29 neonates with cystic fibrosis was 3 weeks; six had meconium ileus and two had affected siblings. 63 neonates were identified as carriers of a cystic fibrosis mutation. Extra laboratory costs for measuring immunoreactive trypsinogen and direct gene analysis were $A1.50 per neonate screened. CONCLUSION:This strategy results in early and accurate diagnosis of cystic fibrosis and performs better than screening strategies based on immunoreactive trypsinogen measurement alone.
journal_name
BMJjournal_title
BMJ (Clinical research ed.)authors
Ranieri E,Lewis BD,Gerace RL,Ryall RG,Morris CP,Nelson PV,Carey WF,Robertson EFdoi
10.1136/bmj.308.6942.1469subject
Has Abstractpub_date
1994-06-04 00:00:00pages
1469-72issue
6942eissn
0959-8138issn
1756-1833journal_volume
308pub_type
杂志文章abstract:OBJECTIVE:To compare incidences of perinatal mortality and severe perinatal morbidity between low risk term pregnancies supervised in primary care by a midwife and high risk pregnancies supervised in secondary care by an obstetrician. DESIGN:Prospective cohort study using aggregated data from a national perinatal regi...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.c5639
更新日期:2010-11-02 00:00:00
abstract:OBJECTIVE: To evaluate the effectiveness of antenatal corticosteroids given at ≥34 weeks' gestation. DESIGN: Systematic review with meta-analysis. DATA SOURCES: Electronic databases were searched from their inception to February 2016. ELIGIBILITY CRITERIA FOR STUDY SELECTION: Randomized clinical trials comparing ant...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章,meta分析,评审
doi:10.1136/bmj.i5044
更新日期:2016-10-12 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:OBJECTIVE:To study the impact of skin surgery in general practice on the workload of a pathology laboratory and to identify what further training might be helpful. DESIGN:Analysis of skin biopsy specimens from general practitioners before and after their new contract to determine numbers of specimens, changes in diagn...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.304.6819.93
更新日期:1992-01-11 00:00:00
abstract:OBJECTIVE:This study updates work published in 1998, which found that of 47 rating instruments appearing on websites offering health information, 14 described how they were developed, five provided instructions for use, and none reported the interobserver reliability and construct validity of the measurements. DESIGN:...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章,评审
doi:10.1136/bmj.324.7337.569
更新日期:2002-03-09 00:00:00
abstract:OBJECTIVE:To determine whether patients with unexpected prehospital cardiac arrest could be identified in whom ambulance resuscitation attempts would be futile. DESIGN:Review of ambulance and hospital records; detailed review of automated external defibrillator rhythm strips of patients in whom no shock was advised. ...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.311.6996.49
更新日期:1995-07-01 00:00:00
abstract:OBJECTIVE:To systematically review and describe currently available approaches to supporting maintenance of weight loss in obese adults and to assess the evidence for the effectiveness of these interventions. DESIGN:Systematic review with meta-analysis. DATA SOURCES:Medline, PsycINFO, Embase, and the Cochrane Central...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章,meta分析,评审
doi:10.1136/bmj.g2646
更新日期:2014-05-14 00:00:00
abstract:OBJECTIVES: To estimate differences in annual income of physicians in the United States by race and sex adjusted for characteristics of physicians and practices. DESIGN: Cross sectional survey study. SETTING: Nationally representative samples of US physicians. PARTICIPANTS: The 2000-13 American Community Survey (ACS...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.i2923
更新日期:2016-06-07 00:00:00
abstract:OBJECTIVE:To describe the clinical circumstances in which psychiatric patients commit suicide. DESIGN:National clinical survey. SETTING:England and Wales. SUBJECTS:A two year sample of people who had committed suicide, in particular those who had been in contact with mental health services in the 12 months before de...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.318.7193.1235
更新日期:1999-05-08 00:00:00
abstract:OBJECTIVE:To assess oesophageal Doppler ultrasonography as a convenient means of optimising positive end expiratory pressure for maximal delivery of oxygen to tissues. DESIGN:Measurements of blood flow, arterial oxygen saturation, and cardiac output by thermodilution (when available) at baseline and at 20-30 minutes a...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.298.6684.1350
更新日期:1989-05-20 00:00:00
abstract::A 40 year old man presents with a 1 cm tender soft swelling in the lateral neck region. This developed seven days after the onset of a tonsillitis episode that has now resolved. He has a 20 pack-year smoking history and consumes minimal alcohol. Examination is otherwise normal. ...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.f5473
更新日期:2013-10-28 00:00:00
abstract:OBJECTIVE:To determine whether short-term, oral low dose prednisolone (< or = 15 mg daily) is superior to placebo and non-steroidal anti-inflammatory drugs in patients with rheumatoid arthritis. DESIGN:Meta-analysis of randomised trials of oral corticosteroids compared with placebo or a non-steroidal anti-inflammatory...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章,meta分析
doi:10.1136/bmj.316.7134.811
更新日期:1998-03-14 00:00:00
abstract:OBJECTIVE:To analyse the cost effectiveness of a national programme to screen blood donors for infection with the human T cell leukaemia/lymphoma virus. DESIGN:Three models for calculating the costs and benefits of screening were developed. The first model analysed the cost of continuously testing all donations; the s...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.316.7142.1417
更新日期:1998-05-09 00:00:00
abstract:OBJECTIVE:To describe risk factors for infantile colic. DESIGN:Questionnaire administered by health visitors. SETTING:Sheffield. SUBJECTS:Mothers of 76,747 infants born between 1 August 1975 and 31 May 1988, interviewed when the infant was 1 month old. MAIN OUTCOME MEASURES:Reporting of infantile colic and its dura...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.314.7090.1325
更新日期:1997-05-03 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::A study was conducted to investigate a novel approach to the prophylaxis of schizophrenic relapse. The treatment strategy comprised brief intermittent courses of neuroleptic agents begun as soon as non-psychotic symptoms believed to be early signs of relapse appeared. Fifty four stable, remitted outpatients meeting th...
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.298.6679.985
更新日期:1989-04-15 00:00:00
abstract:OBJECTIVE:To determine whether a booklet given to patients being discharged from hospital giving details of their admission and treatment increased their knowledge and recall when reviewed in outpatient clinics. DESIGN:Patients alternately allocated to receive a booklet or to serve as controls. Assessment by a questio...
journal_title:BMJ (Clinical research ed.)
pub_type: 临床试验,杂志文章
doi:10.1136/bmj.298.6677.870
更新日期:1989-04-01 00:00:00
abstract:OBJECTIVE:To investigate the relation between total fat intake and body weight in adults and children. DESIGN:Systematic review and meta-analysis of randomised controlled trials and cohort studies. DATA SOURCES:Medline, Embase, CINAHL, and the Cochrane Central Register of Controlled Trials to June 2010. INCLUSION CR...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章,meta分析,评审
doi:10.1136/bmj.e7666
更新日期:2012-12-06 00:00:00
abstract:OBJECTIVE:To examine the relation between diameters of the retinal arterioles and 10 year incidence of hypertension. DESIGN:Population based prospective cohort study. SETTING:Beaver Dam eye study. PARTICIPANTS:2451 normotensive people aged 43 to 84 years. MAIN OUTCOME MEASURES:Diameters of retinal arterioles and ve...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.38124.682523.55
更新日期:2004-07-10 00:00:00
abstract::A study was conducted (a) to assess the number of patients registered with a south London general practice who over 11 weeks referred themselves to an accident and emergency department, (b) to identify the characteristics of those patients, and (c) to determine their perceptions of the services and resources available...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.297.6657.1179
更新日期:1988-11-05 00:00:00
abstract:OBJECTIVE:To identify the attitudes of general practitioners towards the use of thermometers in general practice. DESIGN:Postal questionnaire survey. SETTING:All general practitioners in the catchment area of Frimley Park Hospital, Surrey. SUBJECTS:145 general practitioners. MAIN OUTCOME MEASURES:Answers to questio...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.304.6832.961
更新日期:1992-04-11 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 determine the efficacy of high dose folic acid supplementation for prevention of pre-eclampsia in women with at least one risk factor: pre-existing hypertension, prepregnancy diabetes (type 1 or 2), twin pregnancy, pre-eclampsia in a previous pregnancy, or body mass index ≥35. DESIGN:Randomised, phase III...
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.k3478
更新日期:2018-09-12 00:00:00
abstract::According to a London physician, women with epilepsy taking antiepileptic drugs can take combined oral contraceptives (OCs). It is usual to recommend a combined OC preparation containing at least 50 mcg of estrogen (Ovran) from patients taking enzyme-inducing antiepileptic drugs; this can be increased to 60 mcg by ta...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章,评审
doi:10.1136/bmj.307.6902.492
更新日期:1993-08-21 00:00:00
abstract:OBJECTIVE:To examine whether there are too many hospital beds in London. DESIGN:Analysis of data from the Hospital In-Patient Enquiry, Mental Health Enquiry, health service indicators, and Emergency Bed Service. SETTING:England, London, and inner London. RESULTS:Hospital admission rates for acute plus geriatric serv...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.306.6883.979
更新日期:1993-04-10 00:00:00
abstract:OBJECTIVE:To investigate the long term effects of continuous subcutaneous insulin infusion (insulin pump therapy) on cardiovascular diseases and mortality in people with type 1 diabetes. DESIGN:Observational study. SETTING:Swedish National Diabetes Register, Sweden 2005-12. PARTICIPANTS:18,168 people with type 1 dia...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.h3234
更新日期:2015-06-22 00:00:00
abstract:OBJECTIVES:To assess the incidence, time of day, and driver morbidity associated with vehicle accidents where the most likely cause was the driver falling asleep at the wheel. DESIGN:Two surveys were undertaken, in southwest England and the midlands, by using police databases or on the spot interviews. SUBJECTS:Drive...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.310.6979.565
更新日期:1995-03-04 00:00:00
abstract:OBJECTIVE:To examine the protective efficacy of measles vaccination in infants in a low income country before 9 months of age. DESIGN:Randomised clinical trial. PARTICIPANTS:1333 infants aged 4.5 months: 441 in treatment group and 892 in control group. SETTING:Urban area in Guinea-Bissau. INTERVENTION:Measles vacci...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章,随机对照试验
doi:10.1136/bmj.a661
更新日期:2008-07-24 00:00:00
abstract:OBJECTIVES:To evaluate the use of a maternity unit run by general practitioners and midwives, describing the outcome of labour in an unselected group of women and quantifying the contribution made by general practitioners. DESIGN:Retrospective population based review of obstetric patients who had access to an isolated...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章
doi:10.1136/bmj.312.7025.223
更新日期:1996-01-27 00:00:00
abstract:OBJECTIVES:To develop prediction models that better estimate the pretest probability of coronary artery disease in low prevalence populations. DESIGN:Retrospective pooled analysis of individual patient data. SETTING:18 hospitals in Europe and the United States. PARTICIPANTS:Patients with stable chest pain without ev...
journal_title:BMJ (Clinical research ed.)
pub_type: 杂志文章,meta分析
doi:10.1136/bmj.e3485
更新日期:2012-06-12 00:00:00