Abstract:
:We report on a 43-year-old male patient with Ehlers-Danlos syndrome (EDS) type IV with acute myocardial infarction (MI) without organic coronary stenosis. The disease was complicated with pneumothorax, subcutaneous and mediastinal emphysema, and splenic artery rupture. Three of the patient's family members suffered sudden cardiac death or MI. A diagnosis of EDS type IV was confirmed by decreased production of type III collagen by 86%. Mutation analysis revealed a point mutation in the COL3A1 gene that substituted glycine for aspartate at amino acid position 877. This mutation had not been reported as pathogenic for EDS type IV. These findings suggest close linkage between the mutation and the phenotype with familial MI.
journal_name
J Intern Medjournal_title
Journal of internal medicineauthors
Nishiyama Y,Nejima J,Watanabe A,Kotani E,Sakai N,Hatamochi A,Shinkai H,Kiuchi K,Tamura K,Shimada T,Takano T,Katayama Ydoi
10.1046/j.1365-2796.2001.00761.xsubject
Has Abstractpub_date
2001-01-01 00:00:00pages
103-8issue
1eissn
0954-6820issn
1365-2796pii
jim761journal_volume
249pub_type
杂志文章abstract::The association of sex, age, relative weight, smoking and drinking habits, chronic obstructive pulmonary disease (COPD) and economic and marital status, with benign oesophageal disease (BOD) was investigated by means of a point-prevalence study of BOD in a Danish population. A total of 346 individuals, representing su...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1991.tb00399.x
更新日期:1991-07-01 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:OBJECTIVES:The angiotensinogen (AGT) gene has been implicated as a candidate gene of high blood pressure. However, because the variants of the AGT gene are point mutations, it is difficult to detect them in large scale population studies. The aims of this study were to develop a rapid screening method for the point mut...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1995.tb01158.x
更新日期:1995-02-01 00:00:00
abstract:OBJECTIVE:To describe the epidemiology, pathogenesis and clinical features of hepatocellular carcinoma (HCC) in patients with acute intermittent porphyria (AIP). DESIGN:A retrospective population-based mortality study. SUBJECTS:All inhabitants who died between 1978-1990 (2122) including 33 with AIP, in two municipali...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1046/j.1365-2796.1996.21847000.x
更新日期:1996-10-01 00:00:00
abstract:BACKGROUND:Gallium-67 (67Ga) scintigraphy may be useful in evaluating patients with retroperitoneal fibrosis (RPF), but a systematic assessment of its value is lacking. OBJECTIVE:Prospective evaluation of the value of 67Ga scintigraphy in assessing active RPF disease and in predicting treatment response. METHODS:Thir...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.2007.01805.x
更新日期:2007-08-01 00:00:00
abstract::Patients with established coronary disease and abnormalities of lipid metabolism represent a particularly important subgroup, since their mortality risk is typically 10 times greater than that amongst-subjects with comparable risk factors but no clinical history. Such patients are commonly treated initially with anti-...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1046/j.1365-2796.1997.109132000.x
更新日期:1997-04-01 00:00:00
abstract:OBJECTIVES:to examine fatigue variability over time in chronic fatigue syndrome (CFS) and the effect of other symptoms on its predictability. DESIGN:longitudinal cohort study of patients with CFS (Fukuda criteria). SETTING:specialist CFS clinical service. SUBJECTS:phase 1: 100 patients who participated in a study of...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.2010.02306.x
更新日期:2011-02-01 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:OBJECTIVES:The serum levels of the catabolic cytokine TNF-alpha are often raised in malnourished chronic heart failure patients as well as in chronic renal failure (CRF) patients. Angiotensin-converting enzyme (ACE) inhibitors are often used in these patients and may decrease TNF-alpha and IL-1beta levels in vitro and ...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1046/j.1365-2796.1999.00560.x
更新日期:1999-11-01 00:00:00
abstract::Fifty consecutive patients with confirmed PCP received a high dose of cotrimoxazole for 14 d, or until development of intolerance, directly followed by reduced dose maintenance therapy. Seven individuals died during the high dose course. Twenty (47%) of the 43 survivors showed toxicity reactions that necessitated dose...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1990.tb00172.x
更新日期:1990-05-01 00:00:00
abstract:OBJECTIVE:To study the short-term efficacy, tolerability and safety of the treatment with gemfibrozil 600 mg twice daily or placebo in male patients with established atherosclerosis, with a lipid profile matching the 'high triglyceride-low high-density lipoprotein (HDL) cholesterol trait'. DESIGN:Double-blind randomiz...
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.1365-2796.1994.tb00813.x
更新日期:1994-10-01 00:00:00
abstract::Studies have shown occasional evidence of increased physiological activity in patients with primary insomnia. We hypothesized that metabolic rate, as measured by overall oxygen use (VO2), might be a more general index of increased physiological activity. An initial experiment found elevated VO2 both at night and durin...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1046/j.1365-2796.2003.01176.x
更新日期:2003-07-01 00:00:00
abstract:OBJECTIVES:There is currently widespread exposure to the toxic metal cadmium through the diet as well as through smoking, and it has been suggested that cadmium exposure may increase the risk of cardiovascular disease. Here we examined whether cadmium exposure is associated with prevalence and growth of atherosclerotic...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.2012.02578.x
更新日期:2012-12-01 00:00:00
abstract::A total of 1280 80-year-old men were invited to a medical examination to study common risk indicators for cardiovascular disease (CVD) in the elderly. From the pool of 811 responders (63.3%), all 122 individuals who fulfilled our inclusion criteria were assigned to one of four groups: (1) no CVD, non-smokers; (2) no C...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1990.tb00185.x
更新日期:1990-07-01 00:00:00
abstract:BACKGROUND:Renewed interest in triglyceride-rich lipoproteins as causative agents in cardiovascular disease mandates further exploration of the integrated metabolism of chylomicrons and very low-density lipoproteins (VLDL). METHODS:Novel tracer techniques and an integrated multi-compartmental model were used to determ...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/joim.13017
更新日期:2020-10-01 00:00:00
abstract::There is good evidence that both inherited and environmental factors influence the risk of developing asthma. Only recently, large well-designed studies have been undertaken with the power to identify the genetic causes for asthma, and methods developed in parallel with the Human Genome Project, such as gene expressio...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2796.2012.02555.x
更新日期:2012-08-01 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:OBJECTIVE:To investigate the demographic, clinical, biochemical and genotypic features of patients with erythropoietic protoporphyria (EPP) in a Swedish cohort. DESIGN:Cross-sectional questionnaire, biochemical and genetic study. SETTING:Sweden. SUBJECTS:Fifty-one Swedish individuals known in 2008 to have EPP confir...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.2010.02236.x
更新日期:2011-03-01 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::We created the GIFTs, fusions of granulocyte-colony macrophage-stimulating-factor with IL-2, or IL-15 or IL-21, in order to stimulate distinct, but complimentary elements of the immune response. We found that the physical coupling of two functionally distinct cytokines as a bifunctional hybrid allowed for synergistic ...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2796.2010.02314.x
更新日期:2011-01-01 00:00:00
abstract:OBJECTIVES:There is uncertainty amongst clinicians about the definitions of cobalamin and folate deficiency and therefore about the indications for treatment. In this report we present the results of systematic cobalamin and folic acid treatment based upon serum cobalamin, total homocysteine (tHcy) and methylmalonic ac...
journal_title:Journal of internal medicine
pub_type: 临床试验,杂志文章
doi:10.1046/j.1365-2796.1999.00559.x
更新日期:1999-09-01 00:00:00
abstract:OBJECTIVE:We evaluated the hypothesis that higher levels of total daily physical activity can eliminate the increased mortality rate associated with overweight and obesity. DESIGN:Population-based prospective cohort study. SETTING:Central Sweden. SUBJECTS:A total of 37,633 men at baseline 45-79 years of age and free...
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
abstract:BACKGROUND:Community-acquired pneumonia (CAP) is the leading infectious cause of death in developed countries. Risk stratification has previously been difficult. METHODS:Markers of cardiac stress (B-type natriuretic peptide, BNP) and inflammation (C-reactive protein, white blood cell count, procalcitonin) as well as t...
journal_title:Journal of internal medicine
pub_type: 杂志文章,随机对照试验
doi:10.1111/j.1365-2796.2008.01934.x
更新日期:2008-08-01 00:00:00
abstract::Apart from being an acute phase reactant, fibrinogen appears to play an important although not widely recognized role in athero-/thrombogenesis. Arteriosclerotic diseases are associated with elevated levels of plasma fibrinogen. Strategies that lower the cardiovascular risk also lower fibrinogen levels. Virtually all ...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2796.1990.tb00174.x
更新日期:1990-06-01 00:00:00
abstract::Cerebral toxoplasmosis is optimally treated with the combination of high doses of sulphadiazine and pyrimethamine. We described two patients with AIDS treated for cerebral toxoplasmosis who developed renal failure due to sulphadiazine-induced crystalluria. Symptoms and renal failure were rapidly reversed with urine al...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1993.tb00685.x
更新日期:1993-04-01 00:00:00
abstract:OBJECTIVE:To study the prognostic value of neutrophil gelatinase-associated lipocalin (NGAL) in chronic heart failure (HF) of ischaemic aetiology. BACKGROUND:Neutrophil gelatinase-associated lipocalin is a marker of kidney injury as well as matrix degradation and inflammation and has previously been shown to be increa...
journal_title:Journal of internal medicine
pub_type: 杂志文章,随机对照试验
doi:10.1111/j.1365-2796.2011.02503.x
更新日期:2012-05-01 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::Chances are that you have come across membrane proteins many times in your professional life: ion channels, aquaporins, G-protein-coupled receptors, drug resistance proteins. But it is also quite likely that you have never bothered to think about what the implications are of being a membrane protein, as opposed to a s...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2796.2007.01792.x
更新日期:2007-06-01 00:00:00
abstract::Orthopaedic implants are highly susceptible to infection. The aims of treatment of infection associated with internal fixation devices are fracture consolidation and prevention of chronic osteomyelitis. Complete biofilm eradication is not the primary goal, as remaining adherent microorganisms can be removed with the d...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/joim.12233
更新日期:2014-08-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Benefit from endovascular thrombectomy (EVT) for large-vessel occlusion (LVO) acute ischaemic stroke (AIS) is well demonstrated. Furthermore, emerging evidence supports efficacy in appropriately selected patients treated beyond current recommendations of 6 h. We evaluated clinical outcomes in ...
journal_title:Journal of internal medicine
pub_type: 杂志文章,多中心研究
doi:10.1111/joim.12680
更新日期:2017-12-01 00:00:00