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 pathological hallmark of HCM. A large number of mutations in genes coding for sarcomeric proteins, ie the beta-myosin heavy chain (beta-MyHC), cardiac troponin (cTn)T, cTnI, alpha-tropomyosin, myosin-binding protein C (MyBP-C), and essential and regulatory myosin light chains in patients with HCM have been identified. Genotype-phenotype correlation studies have shown that mutations carry prognostic significance. Unlike mutations in the beta-MyHC gene, the prognostic significance of which reflect their hypertrophic expressivity, cTnT mutations are associated with a mild degree of hypertrophy, but a high incidence of sudden cardiac death. Mutations in MyBP-C are associated with mild hypertrophy, and a benign prognosis. However, the genetic background in which the mutations occur, and possibly environmental factors also, modulate phenotypic expression of HCM. Functional studies of mutations causing HCM have shed significant light into the pathogenesis of HCM and have led to the hypothesis that mutant sarcomeric proteins function as 'poison peptides' exerting a dominant-negative effect on the function of the cardiac myocytes, followed by structural changes and a compensatory hypertrophy.
journal_name
Ann Medjournal_title
Annals of medicineauthors
Marian AJ,Roberts Rsubject
Has Abstractpub_date
1998-08-01 00:00:00pages
24-32eissn
0785-3890issn
1365-2060journal_volume
30 Suppl 1pub_type
杂志文章,评审abstract::The effect of different clinical conditions on urinary dolichols was studied in 219 hospital patients and in 24 pregnant women. Significantly increased urinary dolichol levels were found in patients with severe bacterial infections (mean +/- SEM, 37.5 +/- 8.0 micrograms/mmol creatinine, P less than 0.001), in patients...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853898909149176
更新日期:1989-02-01 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::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::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::The question 'what is a pathogen?' derives from pathogen-centered views of microbial pathogenesis that invoke microbial characteristics to explain virulence. However, virulence cannot be an independent microbial variable since it is only expressed in a susceptible host. Hence, the question 'what is a pathogen?' cannot...
journal_title:Annals of medicine
pub_type: 社论
doi:10.1080/078538902317338580
更新日期:2002-01-01 00:00:00
abstract::Although food habits arc not stable and unchanging during a person's lifetime, a base for healthy food habits can be created in early childhood. Children's food habits can be assumed to be influenced by their parents' food habits and choices. The aim of this article is to review factors influencing food choice in chil...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.1080/07853890.1999.11904396
更新日期:1999-01-01 00:00:00
abstract::Thymoma is an unusual tumour, but it is the most common malignancy in the anterior mediastinum. This tumour is unique in its frequent association with paraneoplastic syndrome and its potential for indolent growth. The distinction between thymomas and other tumours which arise in the anterior or superior mediastinum is...
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::The Cardiovascular Risk in Young Finns Study is a collaborative effort of all university departments of paediatrics and several other institutions in Finland to study the risk factors of coronary heart disease (CHD) and their determinants in children and adolescents in different parts of the country. The main cross-se...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:
更新日期:1999-04-01 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: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: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::Heart failure syndrome results from compensatory mechanisms that operate to restore - back to normal - the systemic perfusion pressure. Sympathetic overactivity plays a pivotal role in heart failure; norepinephrine contributes to maintenance of the systemic blood pressure and increasing preload. Cardiac norepinephrine...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890.2017.1282168
更新日期:2017-08-01 00:00:00
abstract::The risk of cardiovascular disease is markedly increased in patients with type 2 diabetes with a prevalence twice as high compared to the background population. With the recognition of multiple concomitant risk factors for both microvascular as well as cardiovascular disease in type 2 diabetic patients, treatment stra...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890410033612
更新日期:2004-01-01 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::We investigated the association of systolic and diastolic blood pressure and hypertension with two different manifestations of carotid atherosclerosis in a random population sample of 1165 Eastern Finnish men aged 42, 48, 54 or 60 years, examined in the Kuopio Ischaemic Heart Disease Risk Factor Study. Carotid atheros...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853899109147926
更新日期:1991-02-01 00:00:00
abstract:IMPORTANCE:There is limited information about the durability of glycaemic control when different oral glucose-lowering therapies (GLTs) are used as add-on treatments to metformin (MET) in patients with type 2 diabetes mellitus (T2DM). OBJECTIVE:To compare time to treatment failure between different classes of oral GLT...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853890.2016.1157263
更新日期:2016-01-01 00:00:00
abstract::Pancreatic beta-cell dysfunction and insulin resistance are two interrelated defects in the pathophysiology of type 2 diabetes. Defects in peripheral insulin action precede the development of glucose intolerance, as the pancreas compensates for insulin resistance by increasing insulin production and secretion. This ma...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/078538902321012397
更新日期:2002-01-01 00:00:00
abstract:BACKGROUND:The association between otitis media and vestibular symptoms has been hypothesized in the past. Thus, in this study, we aimed to critically analyze (based in a systematic review of the literature) whether patients who have otitis media are at greater risk of developing vestibular impairment or not. METHODS:...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.1080/07853890.2018.1470665
更新日期:2018-08-01 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::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::The circadian rhythms of night shift workers do not usually adjust to their unusual work and sleep schedules, reducing their quality of life and producing potentially dangerous health and safety problems. This paper reviews field studies of simulated night work in which shifted light-dark cycles were constructed with ...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899908998783
更新日期:1999-04-01 00:00:00
abstract::Despite intensive research in spondyloarthritis pathogenesis, some important questions still remain unanswered, particularly concerning enthesis new bone formation. Several evidences suggest that it prevalently occurs by endochondral ossification, however it remains to identify factors that can induce and influence it...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890.2016.1243802
更新日期:2017-05-01 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::Cells with stem cell-like attributes, such as self-renewal and pluripotency, have been isolated from hematological malignancies and from several solid tumor types. Tumor-initiating cells, also referred to as cancer stem cells, are thought to be responsible for the initiation and growth of tumors. Like their normal cou...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890802021342
更新日期:2008-01-01 00:00:00
abstract::In the past few years diabetes has become the leading cause of end-stage renal disease in all Western countries. A correlation between blood pressure and rate of progression in diabetic nephropathy was noted very early, and increased local activity of the renin angiotensin system was identified as a major pathophysiol...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/078538902321117715
更新日期:2002-01-01 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::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::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::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::Second primary cancers are a difficult problem in the upper aerodigestive tract and in several other organ sites. Among patients with early stage head and neck cancers, second primary tumours are a primary cause of death. It has been postulated that such second cancers represent new tumours developing from carcinogen-...
journal_title:Annals of medicine
pub_type: 社论,评审
doi:10.3109/07853899609033118
更新日期:1996-06-01 00:00:00