Abstract：
:For nearly a decade since the mapping of the multiple endocrine neoplasia type 1 (MEN1) locus to 11q13 and the suggestion that it is a tumour suppressor gene, efforts have been made to identify the gene responsible for this familial cancer syndrome. Recently, we have identified the MEN1 gene by the positional cloning approach. This effort involved construction of a 2.8-Mb physical map (D11S480-D11S913) based primarily on a bacterial clone contig. Using these resources, 20 new polymorphic markers were isolated which helped to reduce the interval for candidate genes by haplotype analysis in families and by loss of heterozygosity (LOH) studies in approximately 200 tumours, utilizing laser-assisted microdissection to obtain tumour cells with minimal or no admixture by normal cells. The interval was narrowed by LOH to only 300 kb, and nearly 20 new transcripts that map to this region of 11q13 were isolated and characterized. One of the transcripts was found by dideoxyfingerprinting and cycle sequencing to harbour deleterious germline mutations in affected individuals from MEN-1 kindreds and therefore identified as the MEN1 gene. The type of germline mutations and the identification of mutations in sporadic tumours support the Knudson's two-hit model of tumorigenesis for MEN-1. Efforts are being made to identify the function of the MEN1 gene-encoded protein, menin, and to study its role in tumorigenesis.
journal_name
J Intern Medjournal_title
Journal of internal medicineauthors
Guru SC,Manickam P,Crabtree JS,Olufemi SE,Agarwal SK,Debelenko LVdoi
10.1046/j.1365-2796.1998.00346.xsubject
Has Abstractpub_date
1998-06-01 00:00:00pages
433-9issue
6eissn
0954-6820issn
1365-2796journal_volume
243pub_type
杂志文章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：:Genome-wide association studies have identified thousands of consistently replicated associations between genetic markers and complex disease risk, including cancers. Alone, these markers have limited utility in risk prediction; however, when several of these markers are used in combination, the predictive performance...
journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1111/j.1365-2796.2012.02522.x
更新日期：2012-04-01 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：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：:To determine the effect of prednisolone on severe hypercalcaemia in women with metastatic breast cancer, 30 patients with serum ionized calcium above 1.60 mmol l-1 (reference range 1.15-1.35 mmol l-1) entered a randomized trial. Performance status before entry to the trial and survival time after hypercalcaemia were a...
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.1365-2796.1992.tb00578.x
更新日期：1992-09-01 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：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：:Two hundred consecutive patients with femoral neck fractures (FNF) and 200 controls matched by age, sex, nursing home residency and number of admissions within the last 2 years, were interviewed about recent drug use. The matching criteria were chosen to achieve case and control groups that were comparable with regard...
journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1111/j.1365-2796.1991.tb00302.x
更新日期：1991-01-01 00:00:00
abstract：:A 64-year-old lady with a personal and family history of autoimmune disease developed chronic myelomonocytic leukaemia and multiple myeloma simultaneously. Her sister died of acute myelomonocytic leukaemia, but showed no evidence of autoimmune disease. It is possible that chronic immunological stimulation, perhaps by ...
journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1111/j.1365-2796.1991.tb00457.x
更新日期：1991-10-01 00:00:00
abstract：OBJECTIVES:Hip and distal arm fractures are associated with osteoporosis in the postmenopausal female. In diabetic patients, bone mass has been found to be reduced leading to the hypothesis that diabetes is a risk factor for osteoporosis. Whether this has any clinical implication has only been sparsely elucidated. DES...
journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1111/j.1365-2796.1994.tb01284.x
更新日期：1994-08-01 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：:A female patient developed warfarin resistance after 2 years of satisfactory therapy. Only a third of orally administered warfarin was absorbed, the clearance of warfarin was normal. The patient was also resistant for dicoumarol, while phenandione had satisfactory effect on the prothrombin time (PT). ...
journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1111/j.1365-2796.1994.tb00826.x
更新日期：1994-10-01 00:00:00
abstract：AIMS:To test the hypothesis that stroke and systemic embolic events (SEE) in the stroke prevention using an oral thrombin inhibitor in atrial fibrillation (SPORTIF) III and V trials are different between paroxysmal and persistent atrial fibrillation (AF). METHODS:Data analysis from two cohorts of patients enrolled in ...
journal_title：Journal of internal medicine
pub_type： 杂志文章,随机对照试验
doi：10.1111/j.1365-2796.2007.01909.x
更新日期：2008-07-01 00:00:00
abstract：OBJECTIVE:Is the concept of primary and secondary cardiovascular prevention an old-fashioned concept that needs to be re-defined? DESIGN:Discussion paper. RESULTS:Cardiovascular prevention means reduction of absolute risk for cardiovascular disease (CVD), irrespective of clinical stage. CONCLUSION:For the calculatio...
journal_title：Journal of internal medicine
pub_type： 杂志文章,评审
doi：10.1046/j.1365-2796.2002.00962.x
更新日期：2002-04-01 00:00:00
abstract：:The therapeutic effect of an elemental diet (Pepti 2000) and blended normal diet (placebo) was investigated in 43 out-patients with chronic inflammatory bowel disease (IBD); 24 with ulcerative colitis (UC) and 19 with Crohn's disease (CD), in a mild to moderate state of disease activity. A pilot study on healthy volun...
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.1365-2796.1989.tb00089.x
更新日期：1989-05-01 00:00:00
abstract：OBJECTIVES:Combinations of inhaled corticosteroids (ICSs) and long-acting β2 -agonists (LABAs) are recommended for patients with moderate and severe chronic obstructive pulmonary disease (COPD). However, it is not known whether different fixed combinations are equally effective. The aim of this study was to investigate...
journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1111/joim.12067
更新日期：2013-06-01 00:00:00
abstract：OBJECTIVES:To examine the relationships between pituitary-adrenal cortical (PA) function, abdominal obesity, hyperinsulinaemia, and dyslipidaemia. DESIGN:A prospective study. SETTING:Helsinki University Central Hospital, Finland. SUBJECTS:Seventy-one healthy males aged 30-55 years. MAIN OUTCOME MEASURES:Insulin sen...
journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1111/j.1365-2796.1997.tb00002.x
更新日期：1997-06-01 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：:We investigated the determinants of maximal intima-media thickness of common carotid arteries in a population-based sample of 1224 Eastern Finnish men aged 42, 48, 54 or 60 years. A high-resolution B-mode ultrasonographic examination was performed as part of the Kuopio Ischaemic Heart Disease Risk Factor Study (KIHD)....
journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1111/j.1365-2796.1991.tb00336.x
更新日期：1991-03-01 00:00:00
abstract：:Clinical symptoms were studied in 69 consecutive patients below the age of 40 years who were attending the emergency unit because of unexplained chest pain. In a structured interview a few weeks after the emergency visit, only one-third of the patients reported that they believed in the doctor's diagnosis; they believ...
journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1111/j.1365-2796.1991.tb00442.x
更新日期：1991-09-01 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：:Primary hyperparathyroidism (HPT) has been associated with hypertension, hyperinsulinaemia, hypertriglyceridaemia and hyperuricaemia. In the present study, plasma ionized calcium (Ca2+) was studied in relation to cardiovascular risk factors in 20 subjects with mild hypertension. Plasma Ca2+ was found to be negatively ...
journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1111/j.1365-2796.1992.tb00955.x
更新日期：1992-04-01 00:00:00
abstract：:The socio-economic impact of Alzheimer's disease (AD) and other dementias is enormous, and the potential economic challenges ahead are clear given the projected future numbers of individuals with these conditions. Because of the high prevalence and cost of dementia, it is very important to assess any intervention from...
journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1111/joim.12167
更新日期：2014-03-01 00:00:00
abstract：BACKGROUND:The UKPDS 34 showed that intensive treatment with metformin significantly reduces macrovascular end-points and mortality in individuals with newly diagnosed type 2 diabetes compared with intensive treatment with insulin or sulphonylurea derivatives, despite similar glycaemic control. How this should be expla...
journal_title：Journal of internal medicine
pub_type： 杂志文章,meta分析,评审
doi：10.1111/j.1365-2796.2004.01328.x
更新日期：2004-07-01 00:00:00
abstract：:Interleukin-7 (IL-7) is required for the development and survival of T cells and plays a critical role in modulating T-cell homeostasis. This review will address current understanding of IL-7 biology, review recent clinical experiences and discuss potential future clinical applications of IL-7, or IL-7 blockade, in th...
journal_title：Journal of internal medicine
pub_type： 杂志文章,评审
doi：10.1111/j.1365-2796.2009.02085.x
更新日期：2009-08-01 00:00:00
abstract：AIM:Prevalence, optimal diagnostic approach and consequences of clinically unsuspected osteomyelitis in diabetic foot ulcers are unclear. Early diagnosis of this infection may be crucial to ensure correct management. METHODS:We conducted a prospective study in 20 diabetic patients with a chronic foot ulcer (>8 weeks) ...
journal_title：Journal of internal medicine
pub_type： 临床试验,杂志文章
doi：10.1111/j.1365-2796.2007.01877.x
更新日期：2008-01-01 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：OBJECTIVES:Studies on extracranial carotid atherosclerosis have predominately been undertaken on middle-aged subjects. This study examines the prevalence of extracranial carotid atherosclerosis, its relation to vascular risk factors and its significance for survival in elderly subjects. DESIGN:Population-based cross-s...
journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1046/j.1365-2796.2000.00681.x
更新日期：2000-06-01 00:00:00
abstract：:A patient with undiagnosed, long-standing coeliac disease had multiple hot spots on skeletal scintigraphy, similar to those observed in malignant disease metastatic to the skeleton. A gluten-free diet corrected the pathological laboratory values, and a repeat skeletal scintigram 15 months after the first one was norma...
journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1111/j.1365-2796.1990.tb00252.x
更新日期：1990-10-01 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
