Abstract:
:Concern is often expressed that, in the future, screening for genetic risk will become too widespread. Haemoglobin disorders (the thalassaemias and sickle cell disorders) offer an excellent model for genetic screening, because they are common and severe. They are recessively inherited. Carriers can be detected by conventional blood tests with an accuracy of 99%, so couples at risk can be identified before they have children and offered genetic counselling and prenatal diagnosis. Carrier-screening programmes have been in place in several countries for over 20 years and now offer extensive practical experience of the problems of delivering the service equitably to entire populations. This experience suggests that the main risk is of too little rather than too much genetic screening, and of doing it badly, and demonstrates the need for a discipline of 'community genetics'. Here I propose that modern information technology has a central role in providing communities with adequate access to correct genetic information.
journal_name
Ann Medjournal_title
Annals of medicineauthors
Modell Bdoi
10.3109/07853899709007488subject
Has Abstractpub_date
1997-12-01 00:00:00pages
591-9issue
6eissn
0785-3890issn
1365-2060journal_volume
29pub_type
杂志文章abstract::Cardiac rhythm during sleep was analysed in 168 healthy men aged 19 to 30 (mean 21.8) years using continuous nocturnal ECG recordings. Thirty five of the subjects were endurance athletes; 99 were recorded at home and 69 at a garrison during military service. The number of short term (less than one min) accelerations o...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853899109148037
更新日期:1991-04-01 00:00:00
abstract:BACKGROUND:Obese youths may be susceptible to develop the metabolic syndrome (MS) later in life. AIM:To study childhood predictors of MS in adulthood. METHOD:Prospective cohort study including 2,195 subjects, aged 3-18 years at base-line in 1980, who were re-examined in 1983, 1986, and 2001. RESULTS:In adults (aged ...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.1080/07853890802307709
更新日期:2008-01-01 00:00:00
abstract::The effect of ovarian carcinoma on the circulating concentration of the cross-linked carboxyterminal telopeptide of type I collagen (ICTP) was studied in 17 patients before and during treatment. ICTP is a complex peptide released from type I collagen, which is the main organic component of bone matrix but also induced...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853899509031937
更新日期:1995-02-01 00:00:00
abstract:OBJECTIVES:To appraise effective predictors for COVID-19 mortality in a retrospective cohort study. METHODS:A total of 1270 COVID-19 patients, including 984 admitted in Sino French New City Branch (training and internal validation sets randomly split at 7:3 ratio) and 286 admitted in Optical Valley Branch (external va...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.1080/07853890.2020.1868564
更新日期:2021-12-01 00:00:00
abstract::The metabolic syndrome, which is very common in the general population, is defined by the clustering of several classic cardiovascular risk factors, such as type 2 diabetes, hypertension, high triglycerides and low high-density lipoprotein cholesterol (HDL). Central obesity and insulin resistance, which are the two un...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890500401234
更新日期:2006-01-01 00:00:00
abstract::The calcium-sensing receptor is a G protein-coupled receptor that has a key role in extracellular calcium homeostasis, regulating the secretion of parathyroid hormone and the reabsorption of urinary calcium appropriate to the prevailing calcaemic environment. Molecular abnormalities of the calcium-sensing receptor are...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:
更新日期:2002-01-01 00:00:00
abstract::Leukotriene-forming enzymes are expressed within atherosclerotic lesions and locally produced leukotrienes exert pro-inflammatory actions within the vascular wall by means of cell surface receptors of the BLT and CysLT receptor subtypes. The migration and accumulation of inflammatory cells that follow leukotriene rece...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890600982737
更新日期:2006-01-01 00:00:00
abstract::This review highlights recent progress in our understanding of the beneficial effects of hormone replacement therapy (HRT) in cardiovascular disease (CVD). The fact that HRT is increasingly advocated has raised concern about possible adverse effects weighed against the potential benefits of HRT regimens. Both favourab...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899809002485
更新日期:1998-10-01 00:00:00
abstract::It is established beyond doubt that free radicals in tissues and cells can damage DNA, proteins, carbohydrates and lipids. These potentially deleterious reactions are at least partly controlled by antioxidants capable of scavenging free radicals. It is widely believed that a proper balance between free radicals and an...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899409148366
更新日期:1994-12-01 00:00:00
abstract::Neuropeptides and their receptors are produced and expressed by neuroendocrine tissues and function as neurotransmitters and/or mediators of well-defined hormonal activities in specific tissues and cells. However, neuropeptides and their receptors are also found in the immune system, and various neuropeptides are invo...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:
更新日期:1999-10-01 00:00:00
abstract::Certain bacterial infections have been demonstrated to be causative of reactive arthritis. The most common bacterial trigger of reactive arthritis is Chlamydia trachomatis. Chlamydia pneumoniae is another known cause, albeit far less frequently. Although Chlamydia-induced reactive arthritis will often spontaneously re...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853890.2011.606830
更新日期:2012-12-01 00:00:00
abstract::Aim: We investigated the outcomes of transcatheter (TAVR) and surgical aortic valve replacement (SAVR) in Finland during the last decade. Methods: The nationwide FinnValve registry included data from 6463 patients who underwent TAVR or SAVR with a bioprosthesis for aortic stenosis from 2008 to 2017. Results: The annua...
journal_title:Annals of medicine
pub_type: 临床试验,杂志文章
doi:10.1080/07853890.2019.1614657
更新日期:2019-01-01 00:00:00
abstract:PURPOSE:We aimed to assess the prospective association of serum albumin with venous thromboembolism (VTE) risk and evaluate if the association is independent of or modified by inflammation, as measured by high sensitivity C-reactive protein (hsCRP). DESIGN:We analysed data of 2176 men aged 42-61 years free from VTE in...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.1080/07853890.2018.1441537
更新日期:2018-05-01 00:00:00
abstract::Susceptibility to insulin-dependent diabetes mellitus (IDDM) correlates with the absence of aspartic acid in position 57 of the DQB1 and/or the presence of arginine in position 52 of the DQA1. It has been postulated that transcomplementation between the DQ alpha and beta chains of the two haplotypes could create new m...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853899209167007
更新日期:1992-12-01 00:00:00
abstract::Atherosclerosis is an inflammatory disease of the vessel wall, characterized by the accumulation of leukocytes, especially macrophages and T-cells. Chemokines are small heparin-binding polypeptides, whose main function is to attract cells to the areas of developing inflammation. They function by ligating G-protein cou...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890310019961
更新日期:2004-01-01 00:00:00
abstract::Although obesity and alcohol intake as well as dietary sodium, potassium and magnesium are the major non-genetic determinants of blood pressure levels, interest has recently been stimulated in the function of fatty acids and antioxidants in the aetiology of hypertension. In the Kuopio Ischaemic Heart Disease Risk Fact...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899109148063
更新日期:1991-08-01 00:00:00
abstract::Atrial fibrillation (AF) is the most common among the severe cardiac arrhythmias and carries a significant risk of mortality and morbidity in the general population. The most important complication is represented by development of one or more thrombi in the left atrium of the dyskinetic heart, and their successive cer...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853890.2014.912835
更新日期:2014-09-01 00:00:00
abstract::The processes of glycation and oxidation play a significant role in the acceleration of atherosclerosis in diabetes mellitus. Glycation is thought not only to increase the susceptibility of low-density lipoprotein (LDL) to oxidation but also to enhance the propensity of vessel wall structural proteins to bind extravas...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899608999092
更新日期:1996-08-01 00:00:00
abstract:AIM:To evaluate the effects of canrenone compared to placebo on blood pressure control, some non-conventional biomarkers in cardiovascular stratification, and on metalloproteinases in patients affected by metabolic syndrome. METHODS:A total of 156 Caucasian patients were treated with placebo or canrenone, 50 mg once a...
journal_title:Annals of medicine
pub_type: 杂志文章,随机对照试验
doi:10.3109/07853890.2014.969303
更新日期:2015-02-01 00:00:00
abstract:AIM:To evaluate dyslipidemia as predictor of myocardial infarction (MI) in subjects with or without chronic kidney disease (CKD). METHODS:In 142,394 middle-aged Swedes referred for laboratory evaluation, glomerular filtration rates (GFR) were estimated using the Modification of Diet in Renal Disease study equation. CK...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853890.2010.532153
更新日期:2012-05-01 00:00:00
abstract::Immunocytochemical studies using antibodies to cytoskeletal proteins have provided conflicting data on the components of paired helical filaments (PHF), due solely to immunological cross-reactivities. To avoid such ambiguity, we developed a protein chemical approach to the identification of the PHF components. After t...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853898909149198
更新日期:1989-01-01 00:00:00
abstract:BACKGROUND AIMS:A mild increase in liver enzyme levels is sometimes observed in patients with diabetic ketosis or ketoacidosis. The aim of the present study was to assess the cause and prevalence of the elevation of liver transaminase levels in fulminant and acute-onset type 1 diabetic patients experiencing diabetic ke...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.1080/07853890802032711
更新日期:2008-01-01 00:00:00
abstract::Hypertension is a major cardiovascular risk factor with a multifactorial pathogenesis, including genetic and environmental factors. In addition to hypothesis-driven strategies, unbiased approaches such as genomics, proteomics, and metabolomics are useful tools to help unravel the pathophysiology of hypertension and as...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853890.2012.660494
更新日期:2012-06-01 00:00:00
abstract::Mutations in cardiac voltage-gated K+ channels cause long-QT syndrome (LQTS) and sudden death. We have created a mouse with a long-QT phenotype by overexpression of truncated K+ channels in the heart and have investigated the phenotype of these mice. These mice have long-QT phenotype, and spontaneous and inducible arr...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.1080/17431380410032643
更新日期:2004-01-01 00:00:00
abstract::Concepts of eating disorders have altered so that anorexia nervosa is now recognized as an important but uncommon syndrome within a spectrum of disordered eating. Behaviours used by dieters constitute the mild end of the eating disorder spectrum. Dieting in young women is for the most part a transient and benign activ...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899209149955
更新日期:1992-08-01 00:00:00
abstract::High-dose chemotherapy followed by transplantation of autologous hematopoietic progenitor cells has a proven track record of safety and efficacy in hematological malignancies and select solid tumors. The near-universal use of peripheral blood stem cells as source for autografts, routine growth factor support, and anti...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853890.2014.952662
更新日期:2014-12-01 00:00:00
abstract::Lyme borreliosis is endemic in the Aland Islands. Exposure of the inhabitants to bites of the tick Ixodes ricinus is heavy. The purpose of this study was to describe symptoms and signs of patients with late Lyme borreliosis in this area, and to correlate the findings with the epidemiological setting. The first 100 con...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853899309147296
更新日期:1993-08-01 00:00:00
abstract::We evaluated the reliability hospital discharge register data in the assessment of acute myocardial infarction trends. In the FINMONICA study areas, trends in age standarized attack rates for the years 1983-90 were calculated independently from two sources: the nationwide Finnish hospital discharge register and the FI...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853899509002467
更新日期:1995-10-01 00:00:00
abstract::After the sequencing of the human genome has been completed, non-invasive imaging studies are needed to assess the function of new genes in living organisms. The evaluation of genetically manipulated animals or new designed biomolecules will require a thorough understanding of physiology, biochemistry and pharmacology...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890310006479
更新日期:2003-01-01 00:00:00
abstract::Leukocyte adhesion to endothelium is essential for the development of an appropriate immune-inflammatory response. The vital importance of leukocyte-endothelial adhesive interactions in host defense and homeostasis is illustrated by the clinical manifestations of patients with congenital defects of leukocyte adhesion ...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899909115974
更新日期:1999-06-01 00:00:00