Abstract:
:Mutations in the cardiac Na+ channel gene SCN5A are responsible for multiple lethal ventricular arrhythmias including Brugada syndrome and congenital long QT syndrome. Here we report a case of Brugada syndrome with ST elevation in the right precordial and inferior leads accompanied by atrial standstill and spontaneous ventricular fibrillation. Atrial standstill and J wave elevation were provoked by procainamide. Genetic analysis revealed a missense mutation (R367H) in SCN5A. The resultant mutant Na+ channel was nonfunctional when expressed heterologously in Xenopus oocytes. Our study suggests that genetic defects in SCN5A may be associated with atrial standstill in combination with ventricular arrhythmias.
journal_name
J Intern Medjournal_title
Journal of internal medicineauthors
Takehara N,Makita N,Kawabe J,Sato N,Kawamura Y,Kitabatake A,Kikuchi Kdoi
10.1046/j.0954-6820.2003.01247.xsubject
Has Abstractpub_date
2004-01-01 00:00:00pages
137-42issue
1eissn
0954-6820issn
1365-2796pii
1247journal_volume
255pub_type
杂志文章abstract::In this article, we review the current knowledge of the inherited genetics of epithelial ovarian cancer (EOC) susceptibility and clinical outcome. We focus on recent developments in identifying low-penetrance susceptibility genes and the role of the Ovarian Cancer Association Consortium (OCAC) in these discoveries. Th...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2796.2011.02509.x
更新日期:2012-04-01 00:00:00
abstract:OBJECTIVE:To examine the feasibility and efficacy of a multifactorial intervention programme directed towards hypercholesterolaemia, smoking, and diabetes mellitus in treated hypertensive patients after more than 3 years' follow-up and to describe the incidence of cardiovascular complications. DESIGN:Open, randomized,...
journal_title:Journal of internal medicine
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1365-2796.1994.tb00858.x
更新日期:1994-12-01 00:00:00
abstract:OBJECTIVES:A pooled analysis of randomized trials has shown that oral anticoagulation therapy reduces the risk of ischaemic stroke with 68% in patients with atrial fibrillation. We examined the effectiveness of oral anticoagulation on risk of stroke of any nature (fatal and nonfatal ischaemic and/or haemorrhagic stroke...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1046/j.1365-2796.2002.01009.x
更新日期:2002-07-01 00:00:00
abstract:OBJECTIVES:Autoantibodies to apolipoprotein (apo) B-100 peptides are present in human plasma and have been shown to be associated with decreased cardiovascular risk. The present study aimed to determine if apo B-100 peptide vaccines are atheroprotective in mice expressing human apo B-100 and if the effectiveness of the...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.2008.01995.x
更新日期:2008-12-01 00:00:00
abstract::Apart from being an acute phase reactant, fibrinogen appears to play an important although not widely recognized role in athero-/thrombogenesis. Arteriosclerotic diseases are associated with elevated levels of plasma fibrinogen. Strategies that lower the cardiovascular risk also lower fibrinogen levels. Virtually all ...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2796.1990.tb00174.x
更新日期:1990-06-01 00:00:00
abstract::Pathological deviations in bodyweight is a major increasing health problem in industrialized societies. It is currently unclear what genetic mechanisms are involved in the long-term control of human body-weight and to what extent these genes are involved in pathological deviations of bodyweight control such as anorexi...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1046/j.1365-2796.1999.00489.x
更新日期:1999-06-01 00:00:00
abstract:BACKGROUND:No survival benefit of using blood stem cells instead of bone marrow (BM) has been shown in matched unrelated donor (MUD) transplantation. DESIGN AND METHODS:In a retrospective registry analysis, we compared the use of blood stem cells (n = 1502) and BM (n = 760) from unrelated donors in patients aged 18-60...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.2012.02547.x
更新日期:2012-11-01 00:00:00
abstract::The International RET Mutation Consortium was first convened as part of the Fifth International Workshop on Multiple Endocrine Neoplasia, Stockholm, Sweden, in an attempt to analyse the relationship of RET mutation and disease phenotype in the autosomal dominantly inherited multiple endocrine neoplasia type 2 (MEN 2) ...
journal_title:Journal of internal medicine
pub_type: 杂志文章,多中心研究
doi:10.1111/j.1365-2796.1995.tb01208.x
更新日期:1995-10-01 00:00:00
abstract::Preliminary experience of the efficacy and safety of a new regenerating system for selective extracorporeal removal of apolipoprotein B-containing lipoproteins is described. Four patients with familial hyperlipoproteinaemia were studied on 10 occasions. A system of two, parallel, dextran sulphate cellulose columns was...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1989.tb00032.x
更新日期:1989-01-01 00:00:00
abstract::The current tuberculosis (TB) vaccine bacillus Calmette-Guérin (BCG) fails to protect against adult pulmonary TB. Yet, its capacity to control miliary TB in newborn infants forms the basis for development of novel vaccine candidates. These either exploit genetic modification of BCG to create a viable replacement vacci...
journal_title:Journal of internal medicine
pub_type: 历史文章,杂志文章
doi:10.1111/j.1365-2796.2010.02216.x
更新日期:2010-04-01 00:00:00
abstract:OBJECTIVE:To investigate the demographic, clinical, biochemical and genotypic features of patients with erythropoietic protoporphyria (EPP) in a Swedish cohort. DESIGN:Cross-sectional questionnaire, biochemical and genetic study. SETTING:Sweden. SUBJECTS:Fifty-one Swedish individuals known in 2008 to have EPP confir...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.2010.02236.x
更新日期:2011-03-01 00:00:00
abstract:OBJECTIVES:To compare foreign- and Swedish-born diabetic subjects regarding health care utilization, complications, clinical and socio-economic characteristics. DESIGN:Cross-sectional study. SETTING:All known diabetic patients living in six defined primary health care districts. SUBJECTS:Of 1861 identified subjects ...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1046/j.1365-2796.1997.00161.x
更新日期:1997-08-01 00:00:00
abstract::In order to evaluate the effects of one-year antihypertensive treatment on plasma lipids and lipoproteins, 65 patients whose diastolic blood pressure was in the range 95-120 mmHg were randomly allocated to groups that received either hydrochlorothiazide or metoprolol, or both drugs when the response to one of them was...
journal_title:Journal of internal medicine
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1365-2796.1990.tb00240.x
更新日期:1990-10-01 00:00:00
abstract::The onset of human disease by infection with SARS-CoV-2 causing COVID-19 has revealed risk factors for disease severity. There are four identified factors that puts one at high-risk for infection and/or mortality creating a disparity: age, comorbidities, race/ethnicity, and gender. Data indicate that the older a perso...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/joim.13199
更新日期:2020-11-08 00:00:00
abstract::Personalized medicine involves the selection of the safest and most effective pharmacological treatment based on the molecular characteristics of the patient. In the case of anticancer drugs, tumour cell alterations can have a great impact on drug activity and, in fact, most biomarkers predicting response originate fr...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/joim.12321
更新日期:2015-02-01 00:00:00
abstract::Somatostatin receptors are expressed on the majority of neuroendocrine tumours. The presence of these receptors is clinically useful. First, long-term treatment with somatostatin analogues controls hormonal hypersecretion, which controls flushing attacks, watery diarrhoea, hypoglycaemia and electrolyte disorders in pa...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1046/j.1365-2796.1998.00340.x
更新日期:1998-06-01 00:00:00
abstract::Atherosclerosis is a silent chronic vascular pathology that is the cause of the majority of cardiovascular ischaemic events. The evolution of vascular disease involves a combination of endothelial dysfunction, extensive lipid deposition in the intima, exacerbated innate and adaptive immune responses, proliferation of ...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/joim.12296
更新日期:2014-12-01 00:00:00
abstract:OBJECTIVES:Physical activity (PA) is a preventive strategy for cardiovascular disease and for managing cardiovascular risk factors. There is little information on the effectiveness of PA for the prevention of cardiovascular outcomes once cardiovascular disease is present. Thus, we studied the relationship between PA at...
journal_title:Journal of internal medicine
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1111/j.1365-2796.2007.01808.x
更新日期:2007-10-01 00:00:00
abstract:OBJECTIVES:To study fasting and postmethionine-loading (increment and decrement) plasma homocysteine levels in end-stage renal disease (ESRD) patients in relation to B-vitamin status and after folic acid treatment without or with betaine. DESIGN:Plasma total homocysteine (tHcy) and methionine levels were measured in c...
journal_title:Journal of internal medicine
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1046/j.1365-2796.1999.00430.x
更新日期:1999-02-01 00:00:00
abstract:OBJECTIVE:We evaluated the hypothesis that higher levels of total daily physical activity can eliminate the increased mortality rate associated with overweight and obesity. DESIGN:Population-based prospective cohort study. SETTING:Central Sweden. SUBJECTS:A total of 37,633 men at baseline 45-79 years of age and free...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.2008.01985.x
更新日期:2008-11-01 00:00:00
abstract::During the long history of development of haemoglobin (Hb)-based O2 carriers (HBOCs), many side effects of Hb molecules have become apparent. They imply the physiological importance of the cellular structure of red blood cells. Hb-vesicles (HbV) are artificial O2 carriers that encapsulate concentrated Hb solution with...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2796.2007.01893.x
更新日期:2008-01-01 00:00:00
abstract:BACKGROUND:As reported by major clinical series in the literature, about 2% of patients receiving unfractionated heparin (UFH) develop immune-mediated (type II) heparin-induced thrombocytopenia (HIT) that may be complicated in 30-75% of cases by a paradoxical thrombotic syndrome (HITTS), either arterial or venous. HITT...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1046/j.1365-2796.2002.01021.x
更新日期:2002-08-01 00:00:00
abstract::The hypothesis that asymptomatic visual field defects can be found in patients with carotid transient ischaemic attacks (TIA) or minor strokes was tested. Twenty-two consecutive male patients with TIA and 18 patients with minor strokes from the carotid artery territory were examined by perimetry, cerebral computerised...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1991.tb00389.x
更新日期:1991-06-01 00:00:00
abstract::Hip fractures in the elderly represent a global issue, associated with significant morbidity and mortality. Considering the magnitude of the problem, any substantial reduction in the hip fracture burden depends on prevention. In view of the complex pathogenesis of senile (type II) osteoporosis, preventive strategies s...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1046/j.1365-2796.1996.427779000.x
更新日期:1996-05-01 00:00:00
abstract:OBJECTIVES:The objective was to analyse whether a favourable change in risk factors, caused by a comprehensive risk factor modification programme, affected intima-media thickness (IMT) in the common carotid artery, and whether any such change was associated with a change in cardiovascular events during a 6-year follow-...
journal_title:Journal of internal medicine
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1046/j.1365-2796.2001.00818.x
更新日期:2001-04-01 00:00:00
abstract::Calcium is important for bone health. It has been customary to focus on dietary calcium intake, but of central importance for the body needs in the individual patient is the actual calcium absorption. This absorption consists of an active vitamin D-mediated component and a passive diffusional component. A number of di...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2796.1992.tb00519.x
更新日期:1992-02-01 00:00:00
abstract:BACKGROUND:Splenectomy is accompanied by a life-long risk of overwhelming postsplenectomy infection (OPSI), mainly caused by polysaccharide (PS) encapsulated bacteria such as Streptococcus pneumoniae. Despite extensive prophylactic efforts the mortality and morbidity rates remain high. The present study was based on a ...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.2004.01312.x
更新日期:2004-06-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:In the past two decades, an increasing number of nationwide, Swedish Healthcare Quality Registries (QRs) focusing on specific disorders have been initiated, mostly by physicians. Here, we describe the purpose, organization, variables, coverage and completeness of 103 Swedish QRs. METHODS:From...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/joim.12303
更新日期:2015-01-01 00:00:00
abstract:CONTEXT:The classical end-point to terminate the 72-h fast in a patient evaluated for a hypoglycaemic disorder is the occurrence of hypoglycaemic symptoms in association with a low plasma glucose level. However, neither the symptoms nor the plasma glucose level have been exactly defined. OBJECTIVE:To determine whether...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1046/j.1365-2796.2002.01060.x
更新日期:2002-12-01 00:00:00
abstract:BACKGROUND:Renewed interest in triglyceride-rich lipoproteins as causative agents in cardiovascular disease mandates further exploration of the integrated metabolism of chylomicrons and very low-density lipoproteins (VLDL). METHODS:Novel tracer techniques and an integrated multi-compartmental model were used to determ...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/joim.13017
更新日期:2020-10-01 00:00:00