Abstract:
:Gene mutations at the low density lipoprotein (LDL) receptor locus were screened in 210 alleles of Japanese patients with familial hypercholesterolaemia (FH). In the present study, two types of novel mutation were identified by genomic Southern blotting using human LDL receptor cDNA probes. An approximately 12 kb deletion including exons 2 and 3 (and possibly 4) was identified in a patient (M.I.). The patient with this mutant gene will be referred to as 'FH-Kanazawa'. Two patients born in Okayama Prefecture in Japan had another unique 13 kb partial deletion, from exons 7 to 14, in their LDL receptor genes (FH-Okayama). This mutant allele is the first reported case in which the central portion of the LDL receptor gene, the epidermal growth factor (EGF) precursor homology region, is eliminated.
journal_name
J Intern Medjournal_title
Journal of internal medicineauthors
Kajinami K,Mabuchi H,Inazu A,Fujita H,Koizumi J,Takeda R,Matsue T,Kibata Mdoi
10.1111/j.1365-2796.1990.tb00153.xsubject
Has Abstractpub_date
1990-04-01 00:00:00pages
247-51issue
4eissn
0954-6820issn
1365-2796journal_volume
227pub_type
杂志文章abstract:OBJECTIVE:Atherosclerosis is characterized by accumulation of lipids, cells and extracellular matrix (ECM) proteins in the arterial wall. Collagen type I (COL1), a component of the arterial ECM, is cleaved by matrix metalloproteinases (MMPs) and known to be remodelled in atherosclerosis. We explored whether the MMP-med...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/joim.12819
更新日期:2019-01-01 00:00:00
abstract::Progress in the testing of therapies targeting the immune response following trauma, a leading cause of morbidity and mortality worldwide, has been slow. We propose that the design of interventional trials in trauma would benefit from a scheme or platform that could support the identification and implementation of pro...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/joim.12874
更新日期:2019-07-01 00:00:00
abstract::In 76 consecutive patients who had received diuretics for 1-17 years for arterial hypertension or congestive heart failure, muscle concentrations of magnesium, potassium, and sodium-potassium pumps were significantly reduced compared to 31 age- and sex-matched controls. Thirty-six patients with muscle magnesium and/or...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1993.tb00663.x
更新日期:1993-02-01 00:00:00
abstract::Polyhaemoglobins (PolyHb) and perfluorochemicals are in advanced phase III clinical trials and conjugated haemoglobins in phase II clinical trial. New recombinant human haemoglobin with no vasoactivity is being developed. A soluble macromolecule of PolyHb-catalase-superoxide dismutase is being studied as an oxygen car...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1046/j.1365-2796.2003.01151.x
更新日期:2003-05-01 00:00:00
abstract:OBJECTIVES:To analyse and evaluate current practice of asthma therapy by use of computerized prescription data. DESIGN:Descriptive, non-interventive. SETTING:A pharmacoepidemiological database on computerized refund claims from pharmacies in the Odense region in Denmark. SUBJECTS:Persons aged 20-44, presenting presc...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1993.tb00706.x
更新日期:1993-07-01 00:00:00
abstract::To determine the folic acid absorption characteristics of patients with human immunodeficiency virus (HIV) infection, a prospective, controlled, result-blind single-dose oral absorption study was conducted. A total of 25 subjects were fasted and given 5 mg oral folic acid; blood samples were taken at time zero and aft...
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.1365-2796.1991.tb00435.x
更新日期:1991-09-01 00:00:00
abstract::The fight against doping in sports commenced as a result of the death of a Danish cyclist during the Rome Olympic Games in 1960. The International Olympic Committee (IOC) established a Medical Commission (IOC-MC) which had the task of designing a strategy to combat the misuse of drugs in Olympic Sport. Some Internatio...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2796.2008.01993.x
更新日期:2008-08-01 00:00:00
abstract:OBJECTIVES:Sunlight exposure of the skin is known to be the most important source of vitamin D. The aims of this study were: (i) to estimate vitamin D status amongst sunlight-deprived individuals (veiled Arab women, veiled ethnic Danish Moslem women and Danish controls); and (ii) through food intake analysis to estimat...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1046/j.1365-2796.2000.00595.x
更新日期:2000-02-01 00:00:00
abstract:BACKGROUND:IgA nephropathy (IgAN) is a common complex disease with a strong genetic involvement. We aimed to identify novel, rare, highly penetrant risk variants combining family-based linkage analysis with whole-exome sequencing (WES). METHODS:Linkage analysis of 16 kindreds of South Italian ancestry was performed us...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/joim.12565
更新日期:2017-02-01 00:00:00
abstract::The effects of resuscitation on patients who died suddenly out of hospital were evaluated after the introduction of early defibrillation performed by ambulance personnel using semi-automatic defibrillators. Resuscitation attempts were initiated in 548 patients during the 1-year study period. Mean ambulance delay was 7...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1989.tb00085.x
更新日期:1989-05-01 00:00:00
abstract::Seventeen patients with mild to moderate hypertension, as indicated by a diastolic blood pressure (DPB) of 95-115 mmHg (WHO I), were treated in a randomized, double-blind, parallel study, with either 5 mg of fosinopril, a new phosphinic acid-containing angiotensin converting enzyme (ACE) inhibitor, or 25 mg of hydroch...
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.1365-2796.1991.tb00482.x
更新日期:1991-12-01 00:00:00
abstract::Fifty consecutive patients with confirmed PCP received a high dose of cotrimoxazole for 14 d, or until development of intolerance, directly followed by reduced dose maintenance therapy. Seven individuals died during the high dose course. Twenty (47%) of the 43 survivors showed toxicity reactions that necessitated dose...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1990.tb00172.x
更新日期:1990-05-01 00:00:00
abstract::When and where did modern humans evolve? How did our ancestors spread over the world? Traditionally, answers to questions such as these have been sought in historical, archaeological, and fossil records. However, increasingly genetic data provide information about the evolution of our species. In this review, we focus...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1046/j.1365-2796.2002.00907.x
更新日期:2002-01-01 00:00:00
abstract:OBJECTIVE:Therapeutic paracentesis in patients with cirrhosis is associated with a circulatory dysfunction. Intravenous albumin has been used to prevent the circulatory dysfunction; however, the use of albumin is controversial and costly. Splanchnic vasodilation is mainly responsible for circulatory dysfunction in thes...
journal_title:Journal of internal medicine
pub_type: 杂志文章,随机对照试验
doi:10.1111/j.1365-2796.2006.01654.x
更新日期:2006-07-01 00:00:00
abstract:BACKGROUND:Phospholipid transfer protein (PLTP) is an emerging cardiometabolic risk marker that is important in high-density lipoprotein (HDL) and triglyceride metabolism. Plasma PLTP activity is elevated in type 2 diabetes mellitus, whereas glucose may regulate PLTP gene transcription in vitro. Of interest, common PLT...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.2011.02465.x
更新日期:2012-05-01 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::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...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1046/j.0954-6820.2003.01247.x
更新日期:2004-01-01 00:00:00
abstract:OBJECTIVES:Microbial translocation and chronic immune activation were previously shown to be associated with impairment of T cell functions and disease progression during infection with human immunodeficiency virus type-1 (HIV-1); however, their impact on B cell function and number remains unknown. By measuring markers...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.2012.02550.x
更新日期:2012-11-01 00:00:00
abstract::Clonal haematopoiesis results from acquired mutations in haematopoietic stem and progenitor cells (HSPCs). These mutations can confer the HSPC with a competitive advantage, leading to their clonal expansion within the limiting bone marrow niche. This process is often insufficient to produce a haematologic malignancy; ...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/joim.13130
更新日期:2020-11-01 00:00:00
abstract::Conventional nonsteroidal anti-inflammatory drugs (NSAIDs), i.e. nonselective cyclooxygenase COX inhibitors have well-documented nephrotoxicity. Adverse renal effects occur because of inhibition of the synthesis of cyclooxygenase-derived prostaglandins which act to modulate pathologic processes that would normally imp...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1046/j.1365-2796.2003.01146.x
更新日期:2003-06-01 00:00:00
abstract::A case of a clinically occult ovarian carcinoma leading to subacute cor pulmonale in a 62-year-old woman is described. The patient was admitted to hospital with increasing respiratory distress. Physical examination and echocardiography showed signs of pulmonary hypertension. She died from circulatory failure. Autopsy ...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1994.tb00852.x
更新日期:1994-11-01 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:OBJECTIVES:Atherosclerosis is an inflammatory disease of the arterial wall that leads to myocardial infarction and stroke. Regulatory T cells (Tregs) and IL-10 exert significant anti-atherogenic effects in experimental models of atherosclerosis by modulating vascular inflammation. We have previously shown that Mycobact...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/joim.12127
更新日期:2014-01-01 00:00:00
abstract:OBJECTIVES:To describe types of diabetes treatment in a total, adult population, including those on no antidiabetic medication, and to evaluate use of the defined daily doses in estimation of diabetes prevalence. DESIGN:Cross-sectional epidemiologic survey applying patient-based questionnaires and clinical examination...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1994.tb00793.x
更新日期:1994-09-01 00:00:00
abstract::The incidence of obesity and metabolic disease, such as type 2 diabetes mellitus (T2D), is rising globally. Dietary lipid over supply leads to lipid accumulation at ectopic sites, such as skeletal muscle. Ectopic lipid storage is highly correlated with insulin resistance and T2D, likely due to a loss of metabolic flex...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/joim.12729
更新日期:2018-11-01 00:00:00
abstract:OBJECTIVES:To examine whether interleukin-1 receptor antagonist (IL-1Ra) is a predictor for clinically incident diabetes in subjects with metabolic syndrome (MetS) and whether its predictive power is independent of C-reactive protein (CRP), an established marker of inflammation. We further examined whether genetic vari...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.2010.02294.x
更新日期:2011-03-01 00:00:00
abstract:OBJECTIVE:To assess the relationships between circulating levels of proinflammatory cytokines and adrenocortical hormones and leptin early after stroke. DESIGN:Blood samples were collected four times daily the first two days after stroke, twice daily the next 4 days and four times at day 7. Cognitive function and func...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1046/j.1365-2796.2000.00600.x
更新日期:2000-02-01 00:00:00
abstract:BACKGROUND:Studies have shown that lipoprotein(a) [Lp(a)], an important carrier of oxidized phospholipids, is causally related to calcific aortic valve stenosis (CAVS). Recently, we found that Lp(a) mediates the development of CAVS through autotaxin (ATX). OBJECTIVE:To determine the predictive value of circulating ATX...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/joim.12519
更新日期:2016-11-01 00:00:00
abstract::A 42-year-old man presented with a mediastinal tumour. On histological examination, tuberculosis was evoked, but no definitive conclusion could be drawn. The patient thereafter developed throat ulcerations and rapidly progressing renal insufficiency due to necrotizing glomerulonephritis. After reviewing the histologic...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1990.tb00146.x
更新日期:1990-03-01 00:00:00
abstract:BACKGROUND:Although numerous multicentre studies have estimated the association between ozone exposure and mortality, there are currently no nationally representative multicentre studies of the ozone-mortality relationship in China. OBJECTIVE:To investigate the effect on total (nonaccidental) and cause-specific mortal...
journal_title:Journal of internal medicine
pub_type: 杂志文章,meta分析,多中心研究
doi:10.1111/joim.12724
更新日期:2018-05-01 00:00:00