Abstract：
OBJECTIVE:The RET proto-oncogene is known to be the susceptibility gene for various disease phenotypes, including multiple endocrine neoplasia type 2 (MEN 2). Recent studies have also suggested an involvement of RET in the development of the mammalian kidney. Although kidney agenesis or dysgenesis has been observed in mice lacking functional ret, no clinically relevant kidney abnormalities have been reported in individuals with known RET mutations and familial medullary thyroid carcinoma (FMTC). We have studied a family with five members affected with isolated FMTC. DNA analysis was performed and the involved RET mutation was identified. Amongst these patients were a woman and her son. DESIGN:Case report. SETTING:University department. PATIENTS:A 32-year-old woman and her son with FMTC and unilateral renal agenesis. RESULTS:The woman's abdominal ultrasound findings demonstrated unilateral renal absence of the left kidney. Her son, when only a few months old, had undergone surgical treatment for Hirschsprung's disease. Abdominal ultrasonography was performed recently, and left-side renal absence was diagnosed. Intravenous pyelography confirmed the agenesis of his left kidney, whilst the contralateral kidney displayed compensatory hypertrophy. CONCLUSIONS:The involvement of the RET proto-oncogene in the early growth and differentiation of the human kidney is now generally accepted. We believe that at least a proportion of patients with MEN 2 may have undiagnosed renal malformations. We suggest therefore that noninvasive imaging techniques, such as ultrasonography, should be used to explore the presence of renal abnormalities in subjects with demonstrated RET mutations.
journal_name
J Intern Medjournal_title
Journal of internal medicineauthors
Loré F,Talidis F,Di Cairano G,Renieri Adoi
10.1046/j.1365-2796.2001.00846.xsubject
Has Abstractpub_date
2001-07-01 00:00:00pages
37-42issue
1eissn
0954-6820issn
1365-2796pii
jim846journal_volume
250pub_type
杂志文章,评审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
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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
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journal_title：Journal of internal medicine
pub_type： 杂志文章,评审
doi：10.1046/j.1365-2796.1996.427779000.x
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abstract：:We describe the clinical course of a 58-year-old man who died from acute papillary muscle rupture as a complication of clostridial sepsis. There was no evidence for myocardial infarction, infective endocarditis, prior chest trauma or other known causes of papillary muscle rupture. Histological specimens taken at autop...
journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1046/j.1365-2796.1997.100115000.x
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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
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abstract：OBJECTIVES:A description of the clinical presentation, diagnostic procedure and mode of therapy in three patients suffering from chronic mesenteric ischaemia. DESIGN AND INTERVENTIONS:In all cases, the diagnosis was made on the basis of abdominal complaints in combination with angiographic findings. The primary treatm...
journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1111/j.1365-2796.1995.tb01178.x
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abstract：:Infection of mural thrombus over an area of old myocardial infarct was found in an elderly woman with cholangitis. This case is unique since cholangitis was thought to be the cause of septicaemia and ventricular aneurysm was not present. ...
journal_title：Journal of internal medicine
pub_type： 杂志文章,评审
doi：10.1111/j.1365-2796.1990.tb00159.x
更新日期：1990-04-01 00:00:00
abstract：OBJECTIVE:To ascertain whether carotid intraplaque haemorrhage (IH) in patients undergoing carotid artery surgery is a predictor of increased cardiac mortality over a 5.5 year follow-up. DESIGN AND SUBJECTS:Carotid artery plaques were obtained at surgery from 47 consecutive patients (41 men, six women), median age 67 ...
journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1111/j.1365-2796.1995.tb00910.x
更新日期：1995-08-01 00:00:00
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journal_title：Journal of internal medicine
pub_type： 杂志文章,评审
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pub_type： 杂志文章,评审
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更新日期：2018-07-01 00:00:00
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journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1046/j.1365-2796.1999.00410.x
更新日期：1999-01-01 00:00:00
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journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1111/j.1365-2796.1989.tb00085.x
更新日期：1989-05-01 00:00:00
abstract：:In the clinic, obesity and anorexia constitute prevalent problems whose manifestations are encountered in virtually every field of medicine. However, as the command centre for regulating food intake and energy metabolism is located in the brain, the basic neuroscientist sees in the same disorders malfunctions of a mod...
journal_title：Journal of internal medicine
pub_type： 杂志文章,评审
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更新日期：2005-10-01 00:00:00
abstract：OBJECTIVES:To evaluate the predictive accuracy of the scoring system Rapid Acute Physiology score (RAPS) in nonsurgical patients attending the emergency department (ED) regarding in-hospital mortality and length of stay in hospital (LOS), and to investigate whether the predictive ability of RAPS could be improved by ex...
journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1111/j.1365-2796.2004.01321.x
更新日期：2004-05-01 00:00:00
abstract：OBJECTIVES:The effects of atorvastatin, a new synthetic HMG-CoA reductase inhibitor, were investigated in patients with familial hypercholesterolaemia (FH), with high LDLc levels whilst on standard treatment. DESIGN:Open treatment with 40 mg atorvastatin daily for 6 weeks, followed by another 6 weeks with 80 mg atorva...
journal_title：Journal of internal medicine
pub_type： 临床试验,杂志文章
doi：10.1046/j.1365-2796.1998.00352.x
更新日期：1998-08-01 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：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
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journal_title：Journal of internal medicine
pub_type： 杂志文章
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更新日期：2015-08-01 00:00:00
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journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1046/j.1365-2796.2001.00912.x
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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
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journal_title：Journal of internal medicine
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doi：10.1046/j.1365-2796.1998.00286.x
更新日期：1998-03-01 00:00:00
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journal_title：Journal of internal medicine
pub_type： 杂志文章,评审
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更新日期：2019-03-01 00:00:00
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journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1111/j.1365-2796.2008.01985.x
更新日期：2008-11-01 00:00:00
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journal_title：Journal of internal medicine
pub_type： 杂志文章
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更新日期：2020-03-01 00:00:00
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journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1111/j.1365-2796.1995.tb00902.x
更新日期：1995-07-01 00:00:00
abstract：OBJECTIVE:Algorithms to predict the future long-term risk of patients with stable coronary artery disease (CAD) are rare. The VIenna and Ludwigshafen CAD (VILCAD) risk score was one of the first scores specifically tailored for this clinically important patient population. The aim of this study was to refine risk predi...
journal_title：Journal of internal medicine
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更新日期：2014-08-01 00:00:00
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journal_title：Journal of internal medicine
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doi：10.1111/j.1365-2796.1993.tb00704.x
更新日期：1993-07-01 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...
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更新日期：2001-06-01 00:00:00
abstract：:In this article, we review the current knowledge of the inherited genetics of epithelial ovarian cancer (EOC) susceptibility and clinical outcome. We focus on recent developments in identifying low-penetrance susceptibility genes and the role of the Ovarian Cancer Association Consortium (OCAC) in these discoveries. Th...
journal_title：Journal of internal medicine
pub_type： 杂志文章,评审
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更新日期：2012-04-01 00:00:00
abstract：:Originally isolated from a haematophagous hookworm, recombinant nematode anticoagulant protein c2 (rNAPc2) is an 85-amino acid protein with potent anticoagulant properties. Unlike conventional anticoagulants that attenuate blood coagulation via inhibition of thrombin or activated factor X (FXa) at the downstream porti...
journal_title：Journal of internal medicine
pub_type： 杂志文章,评审
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更新日期：2003-10-01 00:00:00
