Abstract:
:Hypertrophic cardiomyopathy (HCM) is phenotypically and genotypically a heterogeneous disease. Since 1989, four chromosomal loci have been identified for HCM and the genes residing on three of these have been identified as beta-myosin heavy chain (beta-MHC), cardiac troponin-T and alpha-tropomyosin. These genes code for sarcomeric proteins and exhibit the same phenotype, suggesting that HCM is a disease of the sarcomere. Over 40 missense mutations and one deletion of the beta-MHC gene have been identified. Similarly, missense mutations in the alpha-tropomyosin gene and the cardiac troponin-T gene have been identified. From genetic studies, including de novo mutations, it is established that these mutations are indeed responsible for HCM. The molecular basis of the pathogenesis of the cardiac hypertrophy appears to be a compensatory response to the primary defect. In addition to providing a definitive presymptomatic diagnosis, studies correlating beta-MHC mutations with clinical prognosis suggest they have significant predictive value and can be helpful in genetic counselling and medical management. Dilated cardiomiopathies (DCM), the most common form of cardiomyopathies, have an estimated prevalence of nearly 40 per 100,000 individuals, and are the most common cause for cardiac transplantation in the United States. Familial dilated cardiomyopathy is thought to account for approximately 20% of the so-called cases of idiopathic DCM.
journal_name
Ann Medjournal_title
Annals of medicineauthors
Durand JB,Abchee AB,Roberts Rdoi
10.3109/07853899509002583subject
Has Abstractpub_date
1995-06-01 00:00:00pages
311-7issue
3eissn
0785-3890issn
1365-2060journal_volume
27pub_type
杂志文章,评审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::Atrial fibrillation (AF) is the most prevalent arrhythmia and is associated with an increased risk of ischemic stroke (IS) and systemic embolism (SE). Stroke prevention is a key element for the overall management of AF patients. The non-vitamin K antagonist oral anticoagulants (NOACs), such as dabigatran, rivaroxaban,...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890.2018.1460489
更新日期:2018-06-01 00:00:00
abstract::A comprehensive study of coronary heart disease (CHD) risk factors and their determinants in children and adolescents in Finland was initiated in the late 1970's. The main cross-sectional study was undertaken in 1980, with 3596 subjects aged from 3 to 18 years participating. The first follow-up study was carried out i...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853898909149938
更新日期:1989-06-01 00:00:00
abstract::In order to assess the effectiveness of lifestyle interventions in reducing cardiovascular disease risk factors, morbidity and mortality among working-age adults, we undertook a systematic review of randomized controlled trials of various lifestyle interventions (diet, exercise, smoking cessation, alcohol intake reduc...
journal_title:Annals of medicine
pub_type: 杂志文章,meta分析
doi:10.3109/07853890009011767
更新日期:2000-05-01 00:00:00
abstract::Clinical experience has indicated that the effects of RU 486 can be divided into dose-dependent and dose-independent effects. Examples of the dose-dependent effects include the antiglucocorticoid effects of RU 486, whereas pregnancy termination or dilatation of the cervix can be considered dose-independent with the va...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853899309147861
更新日期:1993-02-01 00:00:00
abstract::Dementia of the Alzheimer type (AD) is clinically characterized by a progressive deterioration of intellect, memory, judgment, and abstract thinking. It is incurable, and causal therapy is not yet available. For the development of therapeutic drugs, valid animal models are needed that mimic the pathophysiological chan...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899809002606
更新日期:1998-12-01 00:00:00
abstract::Epstein-Barr virus (EBV) expresses genes that stimulate cells to divide in culture. This property, coupled with the close association of the virus with numerous malignancies, has prompted its designation as a human DNA tumour virus. Before human herpesvirus 8 (HHV-8, alternatively KS virus) was discovered, EBV was uni...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899809005852
更新日期:1998-06-01 00:00:00
abstract:BACKGROUND:Abnormal indices of angiogenesis have been reported in chronic heart failure (CHF). We tested the hypothesis that circulating angiogenin (a potent inducer of neovascularization in vivo) is higher in CHF patients compared with controls and associated with indices of CHF severity: brain natriuretic peptide (BN...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.1080/07853890802001419
更新日期:2008-01-01 00:00:00
abstract::This is a brief overview of the cytokine network within juvenile chronic arthritis, introducing the concept of the production of T-helper 1 (TH-1) or TH2-cell differentiation as a result of cytokine production, as well as the concept of the balance between pro- and anti-inflammatory cytokines. The balance of TH1 and T...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899709113701
更新日期:1997-04-01 00:00:00
abstract::Vulvodynia is a complex multifactorial and multidisciplinary clinical syndrome of unexplained vulvar pain, sexual dysfunction, and psychological disability. Because of the absence of abnormal physical findings among such patients, vulvodynia was long thought to be solely a psychosomatic syndrome. The incidence or prev...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899509031955
更新日期:1995-04-01 00:00:00
abstract::Study of the growth and development of cartilage and bone has been difficult because the structure of the tissues makes biological experiments hard to conduct. Recent advances in molecular biology have offered new possibilities for studying these processes. Many cartilage and bone specific cDNAs have been cloned and c...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899109148050
更新日期:1991-08-01 00:00:00
abstract::The molecular circadian clock entrains biological rhythms to a 24-hour schedule. Aspects of cardiovascular physiology and, indeed, the incidence of myocardial infarction and stroke are also subject to diurnal variation. The use of rodent models of disrupted clock function has begun to elucidate the role of the molecul...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890600995010
更新日期:2006-01-01 00:00:00
abstract::Rapid prototyping (RP) is a common name for several techniques, which read in data from computer-aided design (CAD) drawings and manufacture automatically three-dimensional objects layer-by-layer according to the virtual design. The utilization of RP in tissue engineering enables the production of three-dimensional sc...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890701881788
更新日期:2008-01-01 00:00:00
abstract::Introduction: The use of dipeptidyl peptidase-4 inhibitors in hospitalized patients is an area of active research. We aimed to compare the efficacy and the safety of the basal-bolus insulin regimen versus linagliptin-basal insulin in non-critically ill non-cardiac surgery patients in a real-world setting. Methods: We ...
journal_title:Annals of medicine
pub_type: 杂志文章,多中心研究
doi:10.1080/07853890.2019.1613672
更新日期:2019-01-01 00:00:00
abstract::Nitric oxide (NO), derived from the vascular endothelium and other cells of the cardiovascular system, has important roles in physiological regulation of blood flow and may have pathophysiological functions in cardiovascular disease. The mechanisms involved in NO-induced vasodilatation and cytotoxicity are briefly rev...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899509002593
更新日期:1995-06-01 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::Non-alcoholic fatty liver disease or NAFLD is a chronic liver condition characterized by hepatic steatosis and associated with insulin resistance and type 2 diabetes mellitus (T2DM). In many patients fat accumulation leads to steatohepatitis (NASH) with chronic necrosis, inflammation, and fibrosis, and eventually to t...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890802552437
更新日期:2009-01-01 00:00:00
abstract::A radioimmunoassay method for endothelin was developed. Antisera raised against endothelin 1 showed significant crossreaction with endothelin 2 and 3 (45 and 13%, respectively). Considerable endothelin immunoreactivity was shown to be present in the cerebrospinal fluid of patients with a subarachnoid hemorrhage, rangi...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853899009148932
更新日期:1990-01-01 00:00:00
abstract::Recent results from controlled trials of adjuvant tamoxifen and oophorectomy in early breast cancer are reviewed. The results of the statistical overview performed by the Early Breast Cancer Trialists Collaborative Group are summarised, and some important questions left open by this overview are discussed. These inclu...
journal_title:Annals of medicine
pub_type: 杂志文章,meta分析
doi:10.3109/07853899209148333
更新日期:1992-04-01 00:00:00
abstract::Congruence of evidence from all medical research methodologies has established the major causal influences in cardiovascular disease. Causation thus established, epidemiological observations are the best available evidence on which to base estimates of the potential of preventive strategies. From population comparison...
journal_title:Annals of medicine
pub_type: 临床试验,杂志文章,评审
doi:10.3109/07853898909149926
更新日期:1989-06-01 00:00:00
abstract:AIM:As the capability of human mesenchymal stem cells (hMSC) to engraft, differentiate and improve myocardial function cannot be studied in humans, exploration was performed in a xenomodel. METHODS:The rats were divided into three groups depending on the type of rats used (Rowett nude (RNU) or Fischer rats +/- immunos...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.1080/07853890500422982
更新日期:2006-01-01 00:00:00
abstract:INTRODUCTION:Ambient air pollution is associated with adverse cardiovascular events. This meta-analysis aimed to investigate the short-term association between air pollution and cardiovascular effects on healthy volunteers. METHODS:We searched databases to identify randomized trials with controlled human exposures to ...
journal_title:Annals of medicine
pub_type: 杂志文章,meta分析
doi:10.1080/07853890.2016.1252054
更新日期:2017-03-01 00:00:00
abstract::Autoantibodies directed to intracellular antigens can be detected in many systemic rheumatic diseases. In this review, we discuss the clinical significance of antinuclear antibodies (ANA) associated with systemic lupus erythematosus (SLE), Slögren's syndrome, scleroderma and polymyositis/dermatomyositis, the immunogen...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899608999081
更新日期:1996-08-01 00:00:00
abstract::This paper reviews current diagnostic techniques for Helicobacter pylori infection and critically questions their value under different diagnostic circumstances. As long as we do not have general treatment recommendations for H. pylori infection, endoscopy is still the basis for primary diagnosis because it assesses t...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853890109002063
更新日期:2001-03-01 00:00:00
abstract:OBJECTIVE:To assess the relationship between the FRAX index and the Barthel index/MiniMental State Examination in older people. PATIENTS AND METHODS:Observational descriptive study. Demographic data, comorbidity, dependency and cognitive state, and risk of osteoporotic fracture were collected. RESULTS:A total of 375 ...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.1080/07853890.2018.1505052
更新日期:2018-09-01 00:00:00
abstract::Adding to the difficulty of interpreting the human genome sequence and annotating protein sequence databases is the observation that a single protein can 'moonlight' or perform multiple, apparently unrelated, functions. This review summarizes examples of moonlighting proteins in cellular activities and biochemical pat...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890310004101
更新日期:2003-01-01 00:00:00
abstract::The question why low-density lipoprotein (LDL) stranded in the subendothelium of arteries should acquire the proinflammatory properties that initiate and sustain atherogenesis has puzzled researchers for decades. The most popular concept contends that oxidative processes are crucial because oxidized LDL (ox-LDL) produ...
journal_title:Annals of medicine
pub_type: 社论
doi:10.3109/07853899809002596
更新日期:1998-12-01 00:00:00
abstract::Prolyl 4-hydroxylases (P4Hs) have central roles in the synthesis of collagens and the regulation of oxygen homeostasis. The 4-hydroxyproline residues generated by the endoplasmic reticulum (ER) luminal collagen P4Hs (C-P4Hs) are essential for the stability of the collagen triple helix. Vertebrate C-P4Hs are alpha2beta...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890801986594
更新日期:2008-01-01 00:00:00
abstract::Atrial fibrillation (AF) is associated with an increased risk of mortality and morbidity from stroke and thromboembolism. Endothelial damage or dysfunction may contribute to this increased risk of thromboembolism via the mediation of a prothrombotic or hypercoagulable state. However, the precise pathophysiological mec...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890903160726
更新日期:2009-01-01 00:00:00
abstract:BACKGROUND:Teriparatide is a potent anabolic agent for severe osteoporosis. OBJECTIVES:A primary objective of this retrospective study was to define the efficacy of teriparatide in terms of bone mineral density (BMD) changes and relief of back pain in clinical practice. METHODS:The patient population comprises 119 os...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853890.2012.742560
更新日期:2013-05-01 00:00:00