Abstract:
:In the developed world the majority of disease results from common, but complex disorders such as diabetes, obesity and cancer. Genetic variation explains a large proportion of an individual's risk of developing these diseases; however, success in identifying the particular gene variants involved has been limited. Recent advances in high-throughput genotyping technology, and a better understanding of the genetic architecture of complex disease has led to the development of genome-wide association studies (GWA), which are providing novel and important insights into disease processes. The results from these studies could be of substantial clinical importance in the relatively near future. In this review, we present some recent, exciting findings from studies that have used the GWA approach, and discuss the clinical application of identifying disease susceptibility genes and variants.
journal_name
J Intern Medjournal_title
Journal of internal medicineauthors
Lango H,Weedon MNdoi
10.1111/j.1365-2796.2007.01895.xsubject
Has Abstractpub_date
2008-01-01 00:00:00pages
16-27issue
1eissn
0954-6820issn
1365-2796pii
JIM1895journal_volume
263pub_type
杂志文章,评审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::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:BACKGROUND:Inflammation is involved in the pathogenesis of cardiovascular disease and cognitive decline. Interleukin-6 (IL-6) has a role in cardiovascular disease, but the association of IL-6 concentration and the functional IL-6 -174 polymorphism with cognitive decline has not been demonstrated unequivocally. The obje...
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/joim.12052
更新日期:2013-07-01 00:00:00
abstract:OBJECTIVE:Findings from animal studies indicate that growth hormone (GH) may stimulate the production of the putative metabolic regulator fibroblast growth factor 21 (FGF21). We investigated whether circulating FGF21 levels are altered in patients with GH deficiency and characterized how levels of this growth factor ar...
journal_title:Journal of internal medicine
pub_type: 杂志文章,多中心研究
doi:10.1111/joim.12112
更新日期:2013-09-01 00:00:00
abstract::A total of 1280 80-year-old men were invited to a medical examination to study common risk indicators for cardiovascular disease (CVD) in the elderly. From the pool of 811 responders (63.3%), all 122 individuals who fulfilled our inclusion criteria were assigned to one of four groups: (1) no CVD, non-smokers; (2) no C...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1990.tb00185.x
更新日期:1990-07-01 00:00:00
abstract::Tumour necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is an autoinflammatory disorder characterized by periodic attacks of fever and inflammation, due to mutations in the gene coding for the TNF type I receptor (TNFRSF1A). A 16-year-old patient with the diagnosis of TRAPS was admitted to hospital ...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.2005.01601.x
更新日期:2006-02-01 00:00:00
abstract::In the mitochondrion, inherited defects have been identified in the electron transport system by which ATP is formed, as well as in the transport and metabolism of fuels. Clinical findings in diseases due to these defects can be related to abnormal accumulations of metabolic intermediates and inadequate or inefficient...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2796.1995.tb01218.x
更新日期:1995-11-01 00:00:00
abstract:BACKGROUND:The aim of the study was to investigate the association between the proximal level of the clot and the severity of pulmonary embolism (PE). METHODS:The cohort consisted of 99 consecutive patients with PE diagnosed by multi-detector computed tomography. A new score was constructed by calculating the mean val...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.2006.01733.x
更新日期:2007-01-01 00:00:00
abstract::We determined whether ketoconazole prophylaxis might reduce Candida colonization and infections in adult patients with acute leukaemia. During first-remission induction therapy 50 patients were treated with 200 mg ketoconazole administered orally daily, while 57 patients received placebo in a double-blind, randomized ...
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:10.1111/j.1365-2796.1992.tb00945.x
更新日期:1992-04-01 00:00:00
abstract::Pancreatic transplantation was performed in three patients with insulin-dependent diabetes mellitus in whom recurrent and severe episodes of hypoglycaemia had been found to be due to defective glucose counterregulation. Thus in these patients the spontaneous blood glucose recovery after insulin-induced hypoglycaemia (...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1991.tb00484.x
更新日期:1991-12-01 00:00:00
abstract:BACKGROUND:The contribution of plasma lipids to cardiovascular risk is usually evaluated by measuring plasma concentrations of total cholesterol, triglycerides and HDL cholesterol, and calculating LDL cholesterol concentration. We investigated plasma concentrations of apolipoproteins and lipoprotein particles in women ...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1046/j.1365-2796.2000.00567.x
更新日期:2000-01-01 00:00:00
abstract:OBJECTIVE:To assess the prophylactic efficacy of aspirin and a high-dose antioxidant vitamin combination in patients with peripheral arterial disease (PAD) in terms of reduction of the risk of a first vascular event (myocardial infarction, stroke, vascular death) and critical limb ischaemia. DESIGN:Randomized, placebo...
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.1365-2796.2006.01763.x
更新日期:2007-03-01 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::Neuroendocrine tumour of the small intestine (SI-NET), formerly known as midgut carcinoid tumour, is the most common small intestinal malignancy. The incidence is rising, with recent reports of 0.67 per 100 000 in the USA and 1.12 per 100 000 in Sweden. SI-NETs often present a challenge in terms of diagnosis and treat...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/joim.12526
更新日期:2016-12-01 00:00:00
abstract::Cytokine production is necessary to protect against pathogens and promote tissue repair, but excessive cytokine release can lead to systemic inflammation, organ failure and death. Inflammatory responses are finely regulated to effectively guard from noxious stimuli. The central nervous system interacts dynamically wit...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2796.2009.02098.x
更新日期:2009-06-01 00:00:00
abstract:OBJECTIVES:The aim was to study the effect of a 5-year diet intervention on 24-year mortality in middle aged men with combined hyperlipidaemia. SETTING:We studied 104 initially healthy men (in 1972) aged 40-49 years with baseline values of total serum cholesterol >6.45 mmol L-1 and fasting triglycerides >2.55 mmol L-1...
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.0954-6820.2003.01248.x
更新日期:2004-01-01 00:00:00
abstract:OBJECTIVES:The effect of a second and third generation oral contraceptive and of the progestagens used in these pills on lipid metabolism was studied in the absence or presence of the factor V Leiden mutation. DESIGN:A single centre, double blind randomized trial. SETTING:University Medical Centre. SUBJECTS:A total ...
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.1365-2796.2001.00906.x
更新日期:2001-11-01 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::This review discusses the interplay between multimorbidity (i.e. co-occurrence of more than one chronic health condition in an individual) and functional impairment (i.e. limitations in mobility, strength or cognition that may eventually hamper a person's ability to perform everyday tasks). On the one hand, diseases b...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/joim.12843
更新日期:2019-03-01 00:00:00
abstract::The association of sex, age, relative weight, smoking and drinking habits, chronic obstructive pulmonary disease (COPD) and economic and marital status, with benign oesophageal disease (BOD) was investigated by means of a point-prevalence study of BOD in a Danish population. A total of 346 individuals, representing su...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1991.tb00399.x
更新日期:1991-07-01 00:00:00
abstract:BACKGROUND:The X-linked Fabry disease (FD) is a multiorgan disorder due to alpha-galactosidase A (α-GAL) deficiency with consequent lysosomal accumulation of globotriaosylceramide (Gb3). We established the immunocytochemical detection of Gb3 in blood cells of FD patients as a new method for FD diagnostics, follow-up an...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/joim.12801
更新日期:2018-10-01 00:00:00
abstract::A 61-year-old female patient, treated for hyperthyroidism with thiamazole, developed a severe maturation arrest in the granulocytic lineage and a total agranulocytosis. Subcutaneous GM-CSF was started immediately and given for 6 days. Bone marrow samples were taken before GM-CSF therapy and on days 3 and 8. An increas...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1992.tb00612.x
更新日期:1992-11-01 00:00:00
abstract:OBJECTIVES:Lipid-lowering drugs as 3-hydroxy-3-methyl glutaryl coenzyme A (HMG-CoA) reductase inhibitors and cholestyramine are effective in reducing cardiovascular morbidity both in primary and secondary prevention. Patient compliance is an important determinant of the outcome of therapy. This study was designed to co...
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.1365-2796.1998.00294.x
更新日期:1998-05-01 00:00:00
abstract::Neutrophil granules store proteins that are critically important for the neutrophil to move from the vascular bed to tissues and to kill microorganisms. This is illustrated in nature when individual proteins are deleted due to inherited mutations of their cognate genes, and such deficiencies result in the conditions l...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2796.2010.02237.x
更新日期:2010-07-01 00:00:00
abstract::Patients with established coronary disease and abnormalities of lipid metabolism represent a particularly important subgroup, since their mortality risk is typically 10 times greater than that amongst-subjects with comparable risk factors but no clinical history. Such patients are commonly treated initially with anti-...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1046/j.1365-2796.1997.109132000.x
更新日期:1997-04-01 00:00:00
abstract:OBJECTIVES:To establish a population-based 24-h ambulatory blood pressure (ABP) reference material with day/night mean BP calculated by standardized and true bedtimes. DESIGN:A cross-sectional study of 200 randomly selected subjects (20 men and 20 women in each 10-year age interval 20-70 years) in Linköping, Sweden. ...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1046/j.1365-2796.1996.322856000.x
更新日期:1996-11-01 00:00:00
abstract::In a 24-week randomized multicentre single-blind study, including mild to moderate hypertensives free from other diseases, the effect on blood lipids of captopril (n = 51) was studied and compared with that of metoprolol (n = 53). In order to keep the diastolic pressure less than 95 mm Hg, bendroflumethiazide was adde...
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:10.1111/j.1365-2796.1990.tb00129.x
更新日期:1990-02-01 00:00:00
abstract:OBJECTIVES:To study antibodies against five infectious agents for their prediction of major coronary events in men with and without evidence of coronary heart disease at baseline. DESIGN:A case-control study nested within a prospective population study. SUBJECTS:The study cases included 441 men 45-64 years old with n...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1046/j.1365-2796.2002.01052.x
更新日期:2002-11-01 00:00:00
abstract::Obesity and its comorbidities, such as type 2 diabetes, are pressing worldwide health concerns. Available anti-obesity treatments include weight loss pharmacotherapies and bariatric surgery. Whilst surgical interventions typically result in significant and sustained weight loss, available pharmacotherapies are far les...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/joim.12837
更新日期:2018-12-01 00:00:00
abstract::The acquired immunodeficiency syndrome (AIDS) has been associated with abnormalities of adrenocortical function, and hypoaldosteronism due to hyporeninaemic hypoaldosteronism (HHA). We here report the case of a woman with AIDS associated with orthostatic hypotension, persistent hyponatraemia and hyperkalaemia, in whom...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1991.tb00427.x
更新日期:1991-08-01 00:00:00