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) syndromes. Out of 361 families studied, 41% had MEN 2A, 17.7% MEN 2B, 6.4% FMTC and the remaining subjects were unclassified. RET mutations were detected in 87.3% of families overall. Over 93% of MEN 2B families had the RET 918 ATG-->ACG mutation, while the most frequent mutation detected in MEN 2A families was cysteine codon 634 (87% of all mutations).
journal_name
J Intern Medjournal_title
Journal of internal medicineauthors
Mulligan LM,Marsh DJ,Robinson BG,Schuffenecker I,Zedenius J,Lips CJ,Gagel RF,Takai SI,Noll WW,Fink Mdoi
10.1111/j.1365-2796.1995.tb01208.xsubject
Has Abstract,Author List Incompletepub_date
1995-10-01 00:00:00pages
343-6issue
4eissn
0954-6820issn
1365-2796journal_volume
238pub_type
杂志文章,多中心研究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:OBJECTIVES:To investigate if an insertion/deletion (I/D) polymorphism in the angiotensin-converting enzyme (ACE) gene associates with HLA-DR alleles previously found to be of prognostic interest in Scandinavian sarcoidosis patients. This may contribute to characteristics associated with these HLA-DR alleles, such as a ...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1046/j.1365-2796.2002.00946.x
更新日期:2002-03-01 00:00:00
abstract:OBJECTIVES:To examine whether intermittent oral 1 alpha(OH)D3 treatment of patients on haemodialysis with secondary hyperparathyroidism (HPT) was able to maintain the marked suppression of PTH, which previously had been induced by an intermittent intravenous administration of 1 alpha(OH)D3. Simultaneously, the effect o...
journal_title:Journal of internal medicine
pub_type: 临床试验,杂志文章
doi:10.1046/j.1365-2796.1996.469810000.x
更新日期:1996-04-01 00:00:00
abstract::Sepsis represents one of the major medical challenges of the 21st century. Despite substantial improvements in the knowledge on pathophysiological mechanisms, this has so far not translated into novel adjuvant treatment strategies for sepsis. In sepsis, both vascular tone and vascular integrity are compromised, and co...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/joim.13220
更新日期:2020-12-30 00:00:00
abstract::The aim of the present study was to determine the incidence of malignant disease (MD) in adult patients with nephrotic syndrome (NS). Eighty-eight consecutive patients (38 females; 50 males; mean age 47 years; range 15-86) seen in a renal clinic in a 13-year period with NS were studied. Eight of the patients had or de...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1989.tb01380.x
更新日期:1989-09-01 00:00:00
abstract:OBJECTIVE:To analyse the associations between serum gamma-glutamyl transpeptidase activity (GTP) and the components of the metabolic syndrome. DESIGN:Cross-sectional, observational study of hypertensive patients and controls. SETTING:The participating subjects visited the research laboratory of the Department of Inte...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1046/j.1365-2796.2000.00723.x
更新日期:2000-09-01 00:00:00
abstract::Previous studies in patients with peripheral arterial disease (PAD) have shown that the prognosis is relatively good when the distal systolic ankle index (ankle systolic pressure/arm systolic pressure) is above 50% and the distal toe systolic pressure is above 40 mmHg. In 132 patients suspected of PAD in the legs we i...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1989.tb01361.x
更新日期:1989-08-01 00:00:00
abstract::The purpose of this study was to estimate the prevalence of hypertrophic cardiomyopathy (HCM) in 3607 men from the Reykjavik study of 1979-81. Of these, 452 men had an abnormal (group A) and 3155 a normal electrocardiogram. An echocardiographic control group of 128 men was selected from cohorts with a normal electroca...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1992.tb00623.x
更新日期:1992-12-01 00:00:00
abstract::Hepatitis C virus infection is now one of the most important causes of chronic liver disease. Primary care physicians play an important role in the diagnosis and initial work-up of patients infected with this virus. Understanding which patients may be at risk is the first step. By understanding the correct use of hepa...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1046/j.1365-2796.2001.00781.x
更新日期:2001-02-01 00:00:00
abstract::Evaluation of pro-oxidant/antioxidant dietary factors in relation to individual susceptibility to cancer and cardiovascular disease is justified based on a review of the literature. This working hypothesis is amendable to further scientific validation from biomarkers with end-point sensitivity to oxygen radicals. So f...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2796.1993.tb00651.x
更新日期:1993-01-01 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::A five-year follow-up, by means of a personal interview, was performed on patients below the age of 40 years with acute chest pain without obvious organic cause (n = 64). They had been consecutively admitted to the emergency unit over a period of 8 weeks, and had all been subjected to a thorough medical and psychosoci...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1992.tb00499.x
更新日期:1992-01-01 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::Eleven cases of acetazolamide-associated aplastic anaemia were reported in Sweden during a 17-year period. There were six women and five men with a median age of 71 years (range 63-85 years). The median dose of acetazolamide was 500 mg, and the median duration of treatment was 3 months (range 2-71 months). Ten of the ...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1990.tb00290.x
更新日期:1990-12-01 00:00:00
abstract:INTRODUCTION:The bb genotype of the BsmI polymorphism of the vitamin D receptor (VDR) is more common in primary hyperparathyroidism (HPT) than in the general population in Swedish and German women. However, little is known about the association of HPT with the start codon polymorphism of the VDR (defined by FokI). OBJ...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1046/j.1365-2796.2000.00593.x
更新日期:2000-01-01 00:00:00
abstract:OBJECTIVE:Apolipoprotein A-V (apoAV) contributes to the regulation of triglyceride metabolism, which plays a role in the pathogenesis of atherosclerotic diseases. We therefore ascertained determinants of hepatic APOA5 transcript and apoAV plasma levels in humans. DESIGN:We determined influences of anthropometric varia...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.2008.01987.x
更新日期:2008-11-01 00:00:00
abstract::Mucosal surfaces of the body serve as the major portal of entry for human immunodeficiency virus (HIV). These tissues also house a majority of the body's lymphocytes, including the CD4(+) T cells that are the major cellular target for HIV infection. Mucosal surfaces are defended by innate and adaptive immune mechanism...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2796.2008.02042.x
更新日期:2009-01-01 00:00:00
abstract::Twenty-six consecutive patients with primary biliary cirrhosis (PBC) from northern Sweden were studied regarding the occurrence and features of Sjögren's syndrome (SS). In more than 50% of the patients the rose bengal dye test showed conjunctival and/or corneal staining. In six patients keratoconjunctivitis sicca (KCS...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1991.tb00470.x
更新日期:1991-11-01 00:00:00
abstract::Irritable bowel syndrome (IBS) is a common functional gastrointestinal disorder that affects approximately 10% of the population. Diet triggers symptoms in the vast majority of individuals with IBS. In view of this, there has been a focus on the role of diet in IBS. The diets currently being headlined for IBS include ...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/joim.12966
更新日期:2019-11-01 00:00:00
abstract:OBJECTIVES:To examine to what extent traditional biomedical risk factors and social factors can predict, separately or jointly, first-ever stroke event, and to explore to what extent other risk factors might add to hypertension/elevated blood pressure as a stroke risk factor. DESIGN:An incident case-referent study. S...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1046/j.1365-2796.2000.00746.x
更新日期:2000-12-01 00:00:00
abstract::In a prospective study, the clinicopathological effect of prednisolone was evaluated in six patients with collagenous colitis. Prednisolone was associated with a significant decrease in stool frequency. However, the effect was transitory, since the diarrhoea recurred when prednisolone treatment was discontinued. There...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1991.tb00372.x
更新日期:1991-05-01 00:00:00
abstract::Cardiopulmonary diseases are major causes of death worldwide, but currently recommended strategies for diagnosis and prevention may be outdated because of recent changes in risk factor patterns. The Swedish CArdioPulmonarybioImage Study (SCAPIS) combines the use of new imaging technologies, advances in large-scale 'om...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/joim.12384
更新日期:2015-12-01 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:BACKGROUND:Hyponatremia is a common feature of acute illness and associated with increased mortality. This may be explained by a stress-mediated activation of the vasopressin system with an increase in free-water reabsorption. OBJECTIVES:To investigate whether the association between hyponatremia and mortality could b...
journal_title:Journal of internal medicine
pub_type: 杂志文章,多中心研究
doi:10.1111/joim.12764
更新日期:2018-09-01 00:00:00
abstract::Prions represent a group of proteins with a unique capacity to fold into different conformations. One isoform is rich in beta-pleated sheets and can aggregate into amyloid that may be pathogenic. This abnormal form propagates itself by imposing its confirmation on the homologous normal host cell protein. Pathogenic pr...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2796.2011.02387.x
更新日期:2011-07-01 00:00:00
abstract:OBJECTIVES:The clinical features of 80 patients with primary Sjögren's syndrome (PSS) were revised in order to evaluate the descriptive and analytical facilities of a newly proposed model for classification of the exocrine and nonexocrine disease manifestations in PSS. DESIGN:Retrospective, long-term (median 7.5 years...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1046/j.1365-2796.1996.418817000.x
更新日期:1996-06-01 00:00:00
abstract::Recent studies have demonstrated that replacement of C-peptide to normal physiological concentrations in insulin-dependent diabetic (IDDM) patients on a short-term basis (1-3 h) results in decreased glomerular hyperfiltration, augmented glucose utilization and improved autonomic nervous function. More prolonged admini...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1046/j.1365-2796.1996.19841000.x
更新日期:1996-09-01 00:00:00
abstract:OBJECTIVES:The aim of this study was to examine if an acute nicotine infusion alters insulin sensitivity to a similar degree in type 2 diabetic patients as in healthy control subjects. DESIGN:. Double-blind, cross-over, placebo-controlled, randomized experimental study. Nicotine 0.3 microg kg-1 min(-1) or NaCl was inf...
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.1365-2796.2001.00840.x
更新日期:2001-06-01 00:00:00
abstract:OBJECTIVE:We estimated the prevalence, incidence and risk factors of left ventricular hypertrophy (LVH) in a prospective cohort study of 26 489 participants. MATERIAL AND METHODS:The LVH was defined as Minnesota Code 310 on electrocardiogram (ECG). Everyone with this code at first visit was defined as a prevalence cas...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1046/j.1365-2796.2003.01111.x
更新日期:2003-04-01 00:00:00
abstract:OBJECTIVES:To ascertain whether patients with Crohn's disease treated with azathioprine maintained bone mineral mass better than patients treated with steroids alone. DESIGN:Retrospective study. SETTING:University Hospital of Malmö, Sweden. SUBJECTS:A total of 59 patients with ileocolonic, ileocaecal or colonic Croh...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1046/j.1365-2796.1998.00246.x
更新日期:1998-02-01 00:00:00