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:PURPOSE:Evidence on the association between depression, antidepressant use and venous thromboembolism (VTE) risk is conflicting. We conducted a systematic review and meta-analysis of published observational studies evaluating the associations of depression and antidepressant use with VTE risk. DESIGN:Eligible studies ...
journal_title:Annals of medicine
pub_type: 杂志文章,meta分析
doi:10.1080/07853890.2018.1500703
更新日期:2018-09-01 00:00:00
abstract:BACKGROUND AND AIMS:Prospective data on development of venous obstruction after electrode implantation are limited. We performed a prospective study on 150 patients undergoing first pacemaker implantation. METHODS:Venographies at base-line and 6 months postimplantation in all patients, 50 patients included into a long...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.1080/07853890802498961
更新日期:2009-01-01 00:00:00
abstract::Serum trace element concentrations, parameters of iron metabolism and serum protein concentrations were investigated in thirteen adult recipients of bone-marrow transplants receiving total parenteral nutrition. Six of the patients died during the four weeks follow-up. Serum zinc concentrations were initially low but i...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899209164145
更新日期:1992-02-01 00:00:00
abstract::Atherosclerosis, the leading cause of death in developed countries, is characterized by chronic inflammation in the artery wall. It has been appreciated for decades that this disease is linked to hypercholesterolemia and the accumulation of macrophages in the artery wall, yet the exact mechanisms underlying this infla...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890510007304
更新日期:2005-01-01 00:00:00
abstract:BACKGROUND:Different soluble molecules involved in inflammation, endothelial damage, or hemostasis are recognized as potential cardiovascular risk markers. Studies to assess the role of these markers in the atherosclerotic process by evaluating their relationship to carotid intima-media thickness (C-IMT) tend to provid...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890701645399
更新日期:2008-01-01 00:00:00
abstract::Diabetes in childhood and adolescence is a difficult, lifelong, evolving disorder. Insulin treatment is essential for the establishment and maintenance of optimal metabolic control but it is only part of a comprehensive child-focused management strategy which must be initiated at the time of diagnosis. Attention must ...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899708999372
更新日期:1997-10-01 00:00:00
abstract::Troglitazone is a novel once-daily oral antidiabetic agent for the treatment of type 2 diabetes patients. Here, we report the overall dose response characteristics of troglitazone, with respect to effects on metabolic control, using a pharmacodynamic model. Data from week 12 from two previously reported double-blind, ...
journal_title:Annals of medicine
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.3109/07853899808999405
更新日期:1998-04-01 00:00:00
abstract::Geneticists have been predicting that advances in their discipline will revolutionize the understanding of human disease and behavior. While there has been considerable progress in disorders showing simple, Mendelian patterns of inheritance, expectations have yet to be fulfilled for disorders and traits showing comple...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890310010023
更新日期:2003-01-01 00:00:00
abstract:OBJECTIVE AND METHODS:The impact of the rs9939609 FTO variant on cardiovascular events was investigated in the 19-year follow-up of subjects recruited to the OPERA study. RESULTS:A total of 212 cardiovascular disease (CVD) and 152 coronary heart disease (CHD) events or deaths occurred during follow-up. The logistic re...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853890.2015.1091088
更新日期:2015-01-01 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: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::The majority of patients with low back pain offer no objective clinical findings on which to make a diagnosis on the basis of physical examination. Therefore a diagnostic categorization of complaint based on duration and location is proposed. The justification for this organization is the assumption that the majority ...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853898909149215
更新日期:1989-10-01 00:00:00
abstract::Alzheimer's disease (AD) is a genetically complex disorder associated with multiple genetic defects either mutational or of susceptibility. Current AD genetics does not explain in full the etiopathogenesis of AD, suggesting that environmental factors and/or epigenetic phenomena may also contribute to AD pathology and ...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/078538902320772115
更新日期:2002-01-01 00:00:00
abstract::The purpose of this study was to test the applicability of exercise echocardiography in the diagnosis of coronary artery disease. The results were compared to findings of coronary angiography. 118 patients, 100 males and 18 females, who were all referred to coronary angiography for suspected ischaemic heart disease, u...
journal_title:Annals of medicine
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.3109/07853899608999078
更新日期:1996-02-01 00:00:00
abstract::Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease caused by mutations in sarcomeric proteins. It is characterized by left ventricular hypertrophy in the absence of an increased external load, and myofibrillar disarray. While hypertrophy is a common cardiac response to injury, disarray is the pathologi...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:
更新日期:1998-08-01 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::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::BACKGROUND. Non-steroidal anti-inflammatory drugs are associated with poor upper gastrointestinal (UGI) tolerability and increased ulcer risk, but patient adherence to gastroprotective co-therapy is frequently inadequate. A fixed-dose combination of enteric-coated naproxen 500 mg and immediate-release esomeprazole mag...
journal_title:Annals of medicine
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.3109/07853890.2011.625971
更新日期:2011-12-01 00:00:00
abstract:BACKGROUND:Heart rate (HR), heart rate variability (HRV), and inflammation are all associated with cardiovascular morbidity and mortality. The aim of this study was to assess potential interrelationships between these parameters in a young and healthy population. METHODS:Healthy individuals aged 25-41 years were inclu...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.1080/07853890.2016.1226512
更新日期:2017-02-01 00:00:00
abstract::Due to its varied and variable phenotypes, Andersen-Tawil syndrome (ATS) holds a unique place in the field of channelopathies. Patients with ATS typically present with the triad of periodic paralysis, cardiac arrhythmias, and developmental dysmorphisms. Although penetrance of ATS is high, disease expression and severi...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/17431380410032490
更新日期:2004-01-01 00:00:00
abstract:INTRODUCTION:Inflammation is an important contributor to the development of chronic diseases. We examined whether a healthy Nordic diet, also called the Baltic Sea diet, associates with lower concentrations of inflammatory markers. METHODS:We used two independent cross-sectional studies: the DILGOM study including Fin...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853890.2013.870020
更新日期:2014-03-01 00:00:00
abstract::Non-steroidal anti-inflammatory drugs (NSAIDs) and specific inhibitors of cyclooxygenase (COX)-2, are therapeutic groups widely used for the treatment of pain, inflammation and fever. There is growing experimental and clinical evidence indicating NSAIDs and COX-2 inhibitors also have anti-cancer activity. Epidemiologi...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890310017053
更新日期:2003-01-01 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::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::Transvaginal ultrasonic monitoring of the lower uterine segment was performed in 15 pregnancies in which the mother had previously had three or more caesarean sections. The typical findings were thinning of the myometrium, asymmetric isthmal structures and ventral ballooning of the isthmus. An image of the other of th...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853899009147256
更新日期:1990-04-01 00:00:00
abstract::In adults, the high-density lipoprotein cholesterol (HDL-C) level is higher among physically active subjects. However, the association of physical activity and HDL-C is less well studied in adolescents and young adults. Furthermore, it is not known whether the effect of physical activity on HDL-C levels is independent...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853899609033128
更新日期:1996-06-01 00:00:00
abstract:BACKGROUND:Multiple lines of evidence suggest that the circadian clock contributes to the pathogenesis of winter depression or seasonal affective disorder (SAD). We hypothesized that sequence variations in three genes, including Per2, Arntl, and Npas2, which form a functional unit at the core of the circadian clock, pr...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.1080/07853890701278795
更新日期:2007-01-01 00:00:00
abstract:AIMS:This investigation was designed to explore the role of IL-1RN genotype in unexplained infant deaths (including sudden infant death syndrome (SIDS)), non-infectious infant deaths, and infectious infant deaths, and to investigate whether IL-1RN genotype is related to the finding of organisms in normally sterile site...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853890903325360
更新日期:2010-01-01 00:00:00
abstract::INTRODUCTION. Premature ovarian failure (POF) can occur naturally at an early age or be due to iatrogenic agents. Indeed, ovaries are very sensitive to cytotoxic treatment, especially to radiation and alkylating agents. METHODS. Several options are currently available to preserve fertility in cancer patients and allow...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853890.2010.546807
更新日期:2011-01-01 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