Abstract:
:APOA5 encodes a novel apolipoprotein (apo A-V) which appears to be a modulator of plasma triglyceride (TG). In apoA5 knock out mice plasma TG level increases almost fourfold, whereas in human APOA5 transgenic mice it decreases by 70%. Some SNPs in the APOA5 gene have been associated with variations in plasma TG in humans. In addition, hypertriglyceridaemic (HTG) patients have been identified who carried rare nonsense mutations in the APOA5 gene (Q139X and Q148X), predicted to result in apo A-V deficiency. In this study we report a 17-year-old male with high TG and low high density lipoprotein cholesterol (HDL-C), who at the age of two had been found to have severe HTG and eruptive xanthomas suggesting a chylomicronaemia syndrome. Plasma postheparin LPL activity, however, was normal and no mutations were found in LPL and APOC2 genes. The sequence of APOA5 gene revealed that the patient was homozygous for a point mutation (c.289 C>T) in exon 4, converting glutamine codon at position 97 into a termination codon (Q97X). Apo A-V was not detected in patient's plasma, indicating that he had complete apo A-V deficiency. The administration of a low-fat and low-oligosaccharide diet, either alone or supplemented with omega-3 fatty acids, started early in life, reduced plasma TG to a great extent but had a negligible effect on plasma HDL-C. Loss of function mutations of APOA5 gene may be the cause of severe HTG in patients without mutations in LPL and APOC2 genes.
journal_name
J Intern Medjournal_title
Journal of internal medicineauthors
Priore Oliva C,Carubbi F,Schaap FG,Bertolini S,Calandra Sdoi
10.1111/j.1365-2796.2007.01912.xsubject
Has Abstractpub_date
2008-04-01 00:00:00pages
450-8issue
4eissn
0954-6820issn
1365-2796pii
JIM1912journal_volume
263pub_type
杂志文章abstract:OBJECTIVES:Small LDL particle size has been shown to be associated with coronary artery disease. However, no previous study has been performed relating LDL particle size to ultrasound measurement of atherosclerosis in hypercholesterolaemic subjects. The main aims of the present study were therefore: (i) to investigate ...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1046/j.1365-2796.2000.00698.x
更新日期:2000-07-01 00:00:00
abstract:OBJECTIVES:Peroxidation of lipoproteins may be of critical importance in the development of atherosclerosis. Tocopherol is considered to be the most effective lipid-soluble antioxidant. The main aim of this study was to measure the serum tocopherol concentrations in a Swedish reference population and to relate them to ...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1993.tb00704.x
更新日期:1993-07-01 00:00:00
abstract:BACKGROUND:Bile acid (BA) synthesis is essential in cholesterol and lipid homoeostasis. METHODS:Serum samples from 435 normal and 23 cholecystectomized subjects were obtained after overnight fasting and assayed for markers of BA and cholesterol synthesis, as well as cholesterol absorption. We determined whether BA syn...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.2011.02466.x
更新日期:2011-12-01 00:00:00
abstract:OBJECTIVES:We aimed to characterize the clinical experiences of patients in whom heparin-induced thrombocytopenia (HIT) complicated heparin therapy for venous thromboembolism (VTE) and who switched to argatroban. DESIGN:A retrospective analysis of previously reported prospective, multicentre, historical-controlled Arg...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.2005.01573.x
更新日期:2005-12-01 00:00:00
abstract:OBJECTIVES:To determine whether furosemide treatment in congestive heart failure (CHF) patients is associated with thiamine deficiency. DESIGN:Patients without heart failure and without diuretic treatment were included to compare with patients with CHF belonging to New York Heart Association (NYHA) functional class II...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1997.tb00022.x
更新日期:1997-12-01 00:00:00
abstract:OBJECTIVE:Patients undergoing bariatric surgery present long-term metabolic improvements and reduced type 2 diabetes risk, despite long-term weight regain. We hypothesized that part of these protective effects could be linked to altered gene expression in white adipose tissue (WAT). METHODS:Transcriptomic profiling by...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/joim.13066
更新日期:2020-08-01 00:00:00
abstract:OBJECTIVE:We hypothesized that low presenting systolic blood pressure (SBP) predicted cardioembolic stroke aetiology. DESIGN:Active and passive surveillance were used to identify all ischaemic strokes as part of the Brain Attack Surveillance in Corpus Christi (BASIC) population-based study. Multinomial logistic regres...
journal_title:Journal of internal medicine
pub_type: 杂志文章,多中心研究
doi:10.1111/j.1365-2796.2008.02022.x
更新日期:2009-03-01 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::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::Developing new pharmacotherapies for autism spectrum disorder (ASD) is a challenge. ASD has a complex genetic architecture, several neurobiological phenotypes and multiple symptom domains. However, new opportunities are emerging that could lead to the development of 'targeted' and individualized pharmacological interv...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/joim.12113
更新日期:2013-10-01 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::Since 2006, the advent of increasingly larger genome-wide association studies and their meta-analyses have led to numerous, replicated findings of genetic polymorphisms associated with many diseases and traits. Early studies suggested that the identified loci generally accounted for a small fraction of the genetic var...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2796.2012.02587.x
更新日期:2012-11-01 00:00:00
abstract::Increasing evidence suggests that paraneoplastic syndromes may be mediated by tumour-related cytokine release, although the specific factor(s) involved remain poorly defined. Colony-stimulating factors (CSF) and interleukins (IL) promote colony growth in semi-solid media and, when administered in recombinant form, inc...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1993.tb00765.x
更新日期:1993-10-01 00:00:00
abstract:BACKGROUND:Bupropion sustained release (bupropion SR) has been shown to increase smoking cessation success rates in the US studies. OBJECTIVE:To determine whether bupropion SR, in combination with counselling, is effective for smoking cessation in a multi-country study. METHODS:This randomized, double-blind, placebo-...
journal_title:Journal of internal medicine
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1046/j.1365-2796.2003.01185.x
更新日期:2003-08-01 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::Transplantation of foetal dopamine neurons into the striatum of Parkinson's disease patients can provide restoration of the dopamine system and alleviate motor deficits. However, cellular replacement is associated with several problems. As with pharmacological treatments, cell therapy can lead to disabling abnormal in...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2796.2009.02155.x
更新日期:2009-10-01 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::Cancer is a genetic disease caused by 'gain of function' mutations of oncogenes and 'loss of function' mutations of tumour suppressors and of genes involved in DNA repair mechanisms. The RET gene encodes a tyrosine kinase receptor for molecules belonging to the glial cell line-derived neurotrophic factor (GDNF) family...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1046/j.1365-2796.1998.00330.x
更新日期:1998-06-01 00:00:00
abstract::We observed two patients with hypercholesterolaemia and tendon xanthomas associated with apolipoprotein (apoE-7) E-7, a rare variant of the apoE isoforms. Both suffered from coronary artery disease and had undergone a coronary bypass operation. Their cholesterol levels were 268 and 310 mg dl-1, respectively. Both pati...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1994.tb01051.x
更新日期:1994-02-01 00:00:00
abstract:BACKGROUND:Bradykinin-mediated angioedema (AE) is a complication associated with thrombolysis for acute ischemic stroke. Risk factors are unknown and management is discussed. OBJECTIVES:To clarify risk factors associated with bradykinin-mediated AE after thrombolysis for acute ischemic stroke. METHODS:In a case-contr...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/joim.12962
更新日期:2019-12-01 00:00:00
abstract::The fruitless search for the cause of Crohn's disease has been conducted for more than a century. Various theories, including autoimmunity, mycobacterial infection and aberrant response to food and other ingested materials, have been abandoned for lack of robust proof. This review will provide the evidence, obtained f...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/joim.12945
更新日期:2019-10-01 00:00:00
abstract:BACKGROUND:Patients with coronary artery disease (CAD) and left ventricular systolic dysfunction (LVSD) are often asymptomatic. Angiogenesis is implicated in the physiology of vascular repair and cardiac remodelling, and is one of many pathophysiological processes implicated in heart failure. We hypothesized that plasm...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.2008.02057.x
更新日期:2009-05-01 00:00:00
abstract:OBJECTIVE:To examine the relationship between autoimmunity and extranodal lymphocytic infiltrates in different lymphoproliferative disorders with immunoglobulin alterations. SUBJECTS AND DESIGN:A clinical review combined with a retrospective cohort study of 380 patients, 28 with monoclonal gammopathy of undetermined s...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1046/j.1365-2796.1999.0443f.x
更新日期:1999-03-01 00:00:00
abstract:BACKGROUND:The aims of the study were (i) to examine which antithrombotic therapy patients with known atrial fibrillation use at the point of time when they suffer an ischaemic stroke, (ii) to evaluate the effects of optimal antithrombotic treatment on outcome and severity of the stroke. METHODS:Patients with known at...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.2005.01512.x
更新日期:2005-08-01 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:OBJECTIVES:To evaluate beneficial effects of postmenopausal hormone replacement therapy (HRT) on endothelial function, measured as intraplatelet cyclic guanosine monophosphate (cGMP, mediator of nitric oxide), cyclic adenosine monophosphate (cAMP, mediator of prostacyclin) and plasma endothelin-1 (ET-1), and on monocyt...
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.1365-2796.2000.00613.x
更新日期:2000-04-01 00:00:00
abstract::Chronic nonvalvular atrial fibrillation is associated with an overall risk of thromboembolic complications of 4.5% per year. Advancing age, prior stroke or transient cerebral ischaemia, diabetes, hypertension, and impaired function of the left ventricle are known risk factors. Placebo-controlled trials have demonstrat...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1046/j.1365-2796.1999.00461.x
更新日期:1999-04-01 00:00:00
abstract::Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder believed to be exclusively caused by mutations in the CYP27A1 gene coding for the enzyme sterol 27-hydroxylase. Common findings in CTX are tendon xanthomas, cataracts and progressive neurological dysfunction. Here, we characterize an adult fem...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.2007.01782.x
更新日期:2007-05-01 00:00:00
abstract::We describe a 48-year-old woman with recurrent severe hypoglycaemia apparently caused by a paraprotein with insulin-binding capacity. Very high fasting values were found for serum insulin (170 and > 250 mU l-1) as well as for proinsulin 125 pmol l-1 and an insulinoma was suspected. Hypoglycaemia developed after an ora...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1993.tb00766.x
更新日期:1993-10-01 00:00:00
abstract:BACKGROUND:Metabolomics is a versatile unbiased method to search for biomarkers of human disease. In particular, one approach in cancer therapy is to promote apoptosis in tumour cells; this could be improved with specific biomarkers of apoptosis for monitoring treatment. We recently observed specific metabolic patterns...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/joim.12117
更新日期:2013-11-01 00:00:00