Abstract:
BACKGROUND:Lymphangioleiomyomatosis (LAM) can occur as in isolated form (sporadic LAM) or as a pulmonary manifestation of tuberous sclerosis complex (TSC) (TSC-associated LAM). Recent studies, however, revealed that both forms of LAM are genetically related but that sporadic LAM is a distinct clinical entity caused by somatic mutations of TSC2 (not TSC1) rather than a forme fruste of TSC carrying either of the TSC1 or TSC2 germline mutations. METHOD:Case presentation and in-depth molecular and histopathological examinations. A 34-year-old Japanese woman was diagnosed as having pulmonary lymphangioleiomyomatosis (LAM) when bilateral pneumothoraces were surgically treated in 1992. Although slowly progressive renal disfunction was observed due to bilateral multiple renal cysts during the past 4 years, she had no other clinical features of TSC and was diagnosed as having sporadic LAM with multiple renal cysts of undetermined aetiology. Her subsequent clinical course was complicated by an endobrochial carcinoid tumour, which eventually resulted in her death in June 1999 due to massive haemoptysis. RESULTS:Postmortem examination revealed the presence of LAM lesions in the lungs, mediastinal lymph nodes, kidneys and uterus. Diffuse renal LAM lesions are presumed to generate multiple renal cysts by constricting the nephron rather than epithelial hyperplasia obstructing lumina, which is analysis of the TSC genes demonstrated that she did not have TSC2/PKD1 contiguous gene syndrome but had a TSC1 germline mutation (Sato T et al. J Hum Genet 2002; 47: 20-8) that had occured de novo. CONCLUSION:This patient therefore illustrates that clinical manifestations of TSC are sufficiently diverse as to allow a forme fruste of TSC that mimics sporadic LAM and that TSC1 mutation can cause multiple renal cysts resulting in renal failure.
journal_name
J Intern Medjournal_title
Journal of internal medicineauthors
Sato T,Seyama K,Kumasaka T,Fujii H,Setoguchi Y,Shirai T,Tomino Y,Hino O,Fukuchi Ydoi
10.1111/j.1365-2796.2004.01356.xsubject
Has Abstractpub_date
2004-08-01 00:00:00pages
166-73issue
2eissn
0954-6820issn
1365-2796pii
JIM1356journal_volume
256pub_type
杂志文章,评审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
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abstract::Pathological deviations in bodyweight is a major increasing health problem in industrialized societies. It is currently unclear what genetic mechanisms are involved in the long-term control of human body-weight and to what extent these genes are involved in pathological deviations of bodyweight control such as anorexi...
journal_title:Journal of internal medicine
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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:OBJECTIVES:To study serum homocysteine concentration for its prediction of major coronary heart disease events amongst women. DESIGN:A case-control study nested within a follow-up study. Subjects. A total of 74 and 75 major coronary events (coronary deaths or nonfatal myocardial infarction) which occurred in women wit...
journal_title:Journal of internal medicine
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doi:10.1046/j.1365-2796.2001.00830.x
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abstract:OBJECTIVES:To evaluate the prognostic value of exercise testing performed soon after acute myocardial infarction (AMI) in patients treated with thrombolytic therapy. DESIGN:A 1-year prospective follow-up of 185 subjects treated with thrombolytic therapy who survived AMI, and who performed exercise testing 3 weeks afte...
journal_title:Journal of internal medicine
pub_type: 临床试验,杂志文章
doi:10.1111/j.1365-2796.1994.tb00841.x
更新日期:1994-11-01 00:00:00
abstract::The prevalence of coronary heart disease (CHD) was determined in a population survey in Mauritius where the prevalence of non-insulin dependent diabetes and mortality from CHD are amongst the highest in the world. Men and women aged 35-74 years of all major ethnic groups were included: Asian Indians (Hindus and Muslim...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1993.tb00672.x
更新日期:1993-02-01 00:00:00
abstract::In order to evaluate the effects of one-year antihypertensive treatment on plasma lipids and lipoproteins, 65 patients whose diastolic blood pressure was in the range 95-120 mmHg were randomly allocated to groups that received either hydrochlorothiazide or metoprolol, or both drugs when the response to one of them was...
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.1365-2796.1990.tb00240.x
更新日期:1990-10-01 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
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doi:10.1111/j.1365-2796.1995.tb00925.x
更新日期:1995-09-01 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:2001-07-01 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
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journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/joim.12874
更新日期:2019-07-01 00:00:00
abstract::There is clear heritability of human longevity. However, the genetics of ageing is likely to be complex. Evolution theory tells us not to expect genes that have been selected to promote ageing. Ageing is not programmed but results from accumulation of somatic damage, owing to limited investments in maintenance and rep...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.2007.01901.x
更新日期:2008-02-01 00:00:00
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pub_type: 杂志文章
doi:10.1046/j.1365-2796.2000.00670.x
更新日期:2000-03-01 00:00:00
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journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1989.tb00085.x
更新日期:1989-05-01 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
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journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/joim.12912
更新日期:2019-09-01 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.1365-2796.1996.19841000.x
更新日期:1996-09-01 00:00:00
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journal_title:Journal of internal medicine
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journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1046/j.1365-2796.1999.00564.x
更新日期:1999-08-01 00:00:00
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更新日期:2017-08-01 00:00:00
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journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1992.tb00529.x
更新日期:1992-03-01 00:00:00
abstract::We studied the effect of sleeping in the head-up tilt (HUT) position, alone and in combination with fludrocortisone, on orthostatic tolerance and blood pressure (BP) in six patients with hypoadrenergic orthostatic hypotension. A high salt diet of 150-200 mmol Na+ d-1 was also administered. Combined treatment reduced o...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1992.tb00563.x
更新日期:1992-08-01 00:00:00
abstract::Since 2006, the advent of increasingly larger genome-wide association studies and their meta-analyses have led to numerous, replicated findings of genetic polymorphisms associated with many diseases and traits. Early studies suggested that the identified loci generally accounted for a small fraction of the genetic var...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2796.2012.02587.x
更新日期:2012-11-01 00:00:00
abstract::Vasopressin (AVP) plays a major role in the regulation of water and sodium homeostasis by its antidiuretic action on the kidney, mediated by V2 receptors. AVP secretion is stimulated by a rise in plasma osmolality, a decline in blood volume or stress. V1a receptors are expressed in vascular smooth muscle cells, but th...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
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更新日期:2017-10-01 00:00:00
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journal_title:Journal of internal medicine
pub_type: 杂志文章,多中心研究
doi:10.1111/j.1365-2796.2008.02022.x
更新日期:2009-03-01 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:2013-05-01 00:00:00
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journal_title:Journal of internal medicine
pub_type: 临床试验,杂志文章
doi:10.1111/j.1365-2796.1994.tb01067.x
更新日期:1994-03-01 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
doi:10.1111/j.1365-2796.2011.02509.x
更新日期:2012-04-01 00:00:00
abstract::Atherosclerosis is a chronic inflammatory disease characterized by accumulation of oxidized lipoproteins, increased cell death and hypertrophic degeneration of the arterial intima. The disease process is associated with local formation of modified self antigens that are targeted by both innate and adaptive immune resp...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2796.2008.01945.x
更新日期:2008-05-01 00:00:00