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. RET is a paradigmatic example of how different mutations of a single gene can lead to different neoplastic phenotypes. Indeed, gene rearrangements, often caused by chromosomal inversions, activate the oncogenic potential of RET in a fraction of human thyroid papillary carcinomas. On the other hand, different point mutations activate RET in familial multiple endocrine neoplasia syndromes familial medullary thyroid carcinoma (FMTC), MEN-2A and MEN-2B. Little information is so far available on the biochemical mechanisms by which the potent transforming and mitogenic signals of RET are delivered to the nucleus. However, recent data indicate coupling to the Shc-Ras-MAPK pathway as a necessary step in RET signal transduction.
journal_name
J Intern Medjournal_title
Journal of internal medicineauthors
Santoro M,Melillo RM,Carlomagno F,Visconti R,De Vita G,Salvatore G,Lupoli G,Fusco A,Vecchio Gdoi
10.1046/j.1365-2796.1998.00330.xsubject
Has Abstractpub_date
1998-06-01 00:00:00pages
505-8issue
6eissn
0954-6820issn
1365-2796journal_volume
243pub_type
杂志文章,评审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:OBJECTIVE:The aim of the present study was to ascertain the degree of occurrence of tuberculous infection in patients presenting with low back pain (LBP). METHODS:Forty consecutive patients seeking primary medical attention for the main symptom of LBP and presenting to the Rheumatology Outpatient Clinic of our institu...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.2006.01675.x
更新日期:2006-08-01 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::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:BACKGROUND:The mechanisms explaining morphological electrocardiogram (ECG) changes and increased troponin T (TnT) in acute stroke are unclear. The aims of the present study were to assess the prevalence of ECG and TnT changes in acute ischaemic stroke, to investigate whether ischaemic-like ECG changes correlate to a ri...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.2006.01639.x
更新日期:2006-06-01 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:OBJECTIVES:To compare family physicians' reported practice habits on hypertension in Sweden and Minnesota, and to assess to what extent different national guidelines account for differences. DESIGN:Random samples of family physicians were selected for telephone interviews on their practice of hypertension. SETTING:Pr...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1995.tb00925.x
更新日期:1995-09-01 00:00:00
abstract:BACKGROUND:No survival benefit of using blood stem cells instead of bone marrow (BM) has been shown in matched unrelated donor (MUD) transplantation. DESIGN AND METHODS:In a retrospective registry analysis, we compared the use of blood stem cells (n = 1502) and BM (n = 760) from unrelated donors in patients aged 18-60...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.2012.02547.x
更新日期:2012-11-01 00:00:00
abstract::As our understanding of the molecular mechanisms governing natural killer (NK) cell activity increases, their potential in cancer immunotherapy is growing increasingly prominent. This review analyses the currently available preclinical and clinical data regarding NK cell-based immunotherapeutic approaches in cancer st...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2796.2009.02121.x
更新日期:2009-08-01 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:To determine the possibility of very early prognostic stratification based on electrocardiograms (ECGs) at rest and/or cardiac enzyme levels after an episode of suspected unstable coronary heart disease. DESIGN AND SETTING:Men with suspected unstable angina or non-Q-wave myocardial infarction were studied i...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1993.tb00746.x
更新日期:1993-09-01 00:00:00
abstract::Serum creatine kinase (CK) is an important adjunct in the diagnosis of myocardial infarction or in monitoring for the side-effects of drugs. We report elevation of CK in patients with untreated heterozygous familial hypercholesterolaemia (FH) with no evidence of myocardial infarction. Of a group of 30 patients, 60% ha...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1990.tb00268.x
更新日期:1990-11-01 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::Type 2 diabetes (T2DM) is a rapidly growing public health problem. It is associated with an increased risk of fracture, particularly of the hip, despite normal or high bone mineral density. Longer duration of disease and poor glycaemic control are both associated with higher fracture risk. The factors underlying incre...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/joim.12725
更新日期:2018-02-01 00:00:00
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) ...
journal_title:Journal of internal medicine
pub_type: 杂志文章,多中心研究
doi:10.1111/j.1365-2796.1995.tb01208.x
更新日期:1995-10-01 00:00:00
abstract::We present three patients with variant angina pectoris and episodes of cardiac arrest. All of them had typical clinical symptoms, ST-segment changes in electrocardiogram, and coronary artery spasm confirmed by arteriography. They were treated with high doses of calcium antagonists and nitrates. An automatic cardiovert...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1046/j.1365-2796.2002.01044.x
更新日期:2002-10-01 00:00:00
abstract:OBJECTIVES:To clarify the mechanisms by which smoking is associated to toxic and nontoxic goitre and thyroid nodules. DESIGN:Cohort study. SETTING:Sweden. SUBJECTS:A cohort of 874,507 parous women identified through the Medical Birth Registry, with smoking behaviour assessed through self-reported information at the ...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.2005.01523.x
更新日期:2005-09-01 00:00:00
abstract:OBJECTIVES:A significant proportion of patients with chronic fatigue syndrome (CFS) also have postural orthostatic tachycardia syndrome (POTS). We aimed to characterize these patients and differentiate them from CFS patients without POTS in terms of clinical and autonomic features. METHODS:A total of 179 patients with...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/joim.12022
更新日期:2013-05-01 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::We describe a 22-year-old female with systemic lupus erythematosus and lymphopenia, who developed septic arthritis of the right knee with Listeria monocytogenes type 1/2 A, whilst on low-dose methotrexate (MTX). So far, septic arthritis due to this microorganism has been reported in two other patients treated with low...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1046/j.1365-2796.1998.00311.x
更新日期:1998-07-01 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:OBJECTIVES:To evaluate (i) the demineralizing effect of L-thyroxine (LT4) therapy at doses mildly inhibiting serum thyroid stimulating hormone (TSH) in patients with benign nodular goitre; (ii) the efficacy of treatment on nodule size. DESIGN:Cross-sectional study comparing euthyroid women with nodular goitre treated ...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1046/j.1365-2796.2002.00977.x
更新日期:2002-05-01 00:00:00
abstract::A survey among Danish students revealed that 33 (7.2%) of the respondents had experience with hallucinogenic mushrooms (HM). Afterwards these students answered an extended questionnaire about habits and pattern of consumption. It seems that mushroom use is experimental and may be due to risk-seeking behaviour but is m...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1993.tb00661.x
更新日期:1993-02-01 00:00:00
abstract::The first unifying definition for the metabolic syndrome was proposed by WHO in 1998. In accordance to this, patients with type 2 diabetes mellitus or impaired glucose tolerance have the syndrome if they fulfil two of the criteria: hypertension, dyslipidaemia, obesity/abdominal obesity and microalbuminuria. Persons wi...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1046/j.1365-2796.2001.00864.x
更新日期:2001-08-01 00:00:00
abstract::It is now well recognized that cardiovascular events (CVE) occur quite commonly, both in the acute phase and in the long-term, in patients with community-acquired pneumonia (CAP). CVE have been noted in up to 30% of patients hospitalized with all-cause CAP. One systematic review and meta-analysis of hospitalized patie...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/joim.12875
更新日期:2019-06-01 00:00:00
abstract:OBJECTIVE:Patients with psoriasis are prone to premature atherosclerosis and increased risk of cardiovascular disease events. However, the prevalence and extent of atherosclerosis in patients with psoriasis are unknown. DESIGN:A cross-sectional study. SETTING AND SUBJECTS:The prevalence and extent of coronary and car...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/joim.12002
更新日期:2013-03-01 00:00:00
abstract:BACKGROUND:The original definition of microalbuminuria (20-200 microg min-1 or 15-150 microg min-1 overnight) is based on studies of patients with diabetes, in whom microalbuminuria was associated with increased risk of chronic renal failure. In a recent report an overnight urinary albumin excretion (UAE) above only 5 ...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.2006.01679.x
更新日期:2006-09-01 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:OBJECTIVES:Polymyalgia rheumatica (PMR) is a rheumatic disease that is characterized by intense activation of systemic inflammation. Systemic inflammation has been associated with an imbalance between endothelial injury and repair, defined by an increased number of circulating endothelial microparticles (EMPs) and a re...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.2011.02510.x
更新日期:2012-08-01 00:00:00
abstract::Lifibrol is a powerful cholesterol-lowering drug of unknown mechanism of action. This investigation was carried out to determine whether the major action of lifibrol is to enhance clearance of low density lipoproteins (LDL) through the LDL-receptor pathway, and if so, whether the drug exerts its action by altering the...
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.1365-2796.1999.00536.x
更新日期:1999-07-01 00:00:00