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 because of fever and abdominal pain. Initially, the symptoms were interpreted as manifestations of another TRAPS attack, but the patient's condition worsened, despite treatment with corticosteroids and antibiotics. A repeated computer tomography revealed an intra-abdominal abscess, which necessitated urgent surgical intervention. This case stresses the importance of differential diagnostic vigilance when dealing with patients with rare genetic diseases.
journal_name
J Intern Medjournal_title
Journal of internal medicineauthors
Stjernberg-Salmela S,Kivisaari A,Puolakkainen P,Färkkilä M,Kemppainen E,Ranki A,Pettersson Tdoi
10.1111/j.1365-2796.2005.01601.xsubject
Has Abstractpub_date
2006-02-01 00:00:00pages
209-13issue
2eissn
0954-6820issn
1365-2796pii
JIM1601journal_volume
259pub_type
杂志文章abstract:OBJECTIVE:Therapeutic paracentesis in patients with cirrhosis is associated with a circulatory dysfunction. Intravenous albumin has been used to prevent the circulatory dysfunction; however, the use of albumin is controversial and costly. Splanchnic vasodilation is mainly responsible for circulatory dysfunction in thes...
journal_title:Journal of internal medicine
pub_type: 杂志文章,随机对照试验
doi:10.1111/j.1365-2796.2006.01654.x
更新日期:2006-07-01 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::The acquired immunodeficiency syndrome (AIDS) has been associated with abnormalities of adrenocortical function, and hypoaldosteronism due to hyporeninaemic hypoaldosteronism (HHA). We here report the case of a woman with AIDS associated with orthostatic hypotension, persistent hyponatraemia and hyperkalaemia, in whom...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1991.tb00427.x
更新日期:1991-08-01 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::Neutrophil granules store proteins that are critically important for the neutrophil to move from the vascular bed to tissues and to kill microorganisms. This is illustrated in nature when individual proteins are deleted due to inherited mutations of their cognate genes, and such deficiencies result in the conditions l...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2796.2010.02237.x
更新日期:2010-07-01 00:00:00
abstract:OBJECTIVE:To evaluate primary hyperparathyroidism (HPT) as a risk factor for hip fractures. DESIGN:A population-based, record-linked, prospective study with a mean observation time of 17 years (women) and 16.5 years (men). SETTING:A cohort obtained from a register of hospital admissions in the Uppsala Health Care Reg...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1993.tb01017.x
更新日期:1993-12-01 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:OBJECTIVE:the aim of this study was to investigate the effects of a healthy Nordic diet (ND) on cardiovascular risk factors. DESIGN AND SUBJECTS:in a randomized controlled trial (NORDIET) conducted in Sweden, 88 mildly hypercholesterolaemic subjects were randomly assigned to an ad libitum ND or control diet (subjects'...
journal_title:Journal of internal medicine
pub_type: 杂志文章,随机对照试验
doi:10.1111/j.1365-2796.2010.02290.x
更新日期:2011-02-01 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:Phospholipid transfer protein (PLTP) is an emerging cardiometabolic risk marker that is important in high-density lipoprotein (HDL) and triglyceride metabolism. Plasma PLTP activity is elevated in type 2 diabetes mellitus, whereas glucose may regulate PLTP gene transcription in vitro. Of interest, common PLT...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.2011.02465.x
更新日期:2012-05-01 00:00:00
abstract::The ground-breaking discovery of genotype-phenotype relationships in hereditary medullary thyroid cancer has greatly facilitated early prophylactic thyroidectomy. Its timing depends not solely on a positive gene test but, more importantly, on the type of the REarranged during Transfection (RET) mutation and its underl...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2796.2009.02113.x
更新日期:2009-07-01 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::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::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:OBJECTIVE:To study the association between postural hypotension and (i) electrolyte levels and (ii) neurohumoral factors in elderly hypertensive patients using diuretics. DESIGN:Cross-sectional study of patients and controls. SETTING:The subjects were gathered from senior citizen clubs or they were referred to the st...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1995.tb01189.x
更新日期:1995-04-01 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::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 determine whether mutations in APOA1 affect levels of high-density lipoprotein (HDL) cholesterol and to predict risk of ischaemic heart disease (IHD) and total mortality in the general population. BACKGROUND:Epidemiologically, risk of IHD is inversely related to HDL cholesterol levels. Mutations in apoli...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.2011.02381.x
更新日期:2011-08-01 00:00:00
abstract:OBJECTIVES:Statins reduce low-density lipoprotein cholesterol (LDL-C) and can raise high-density lipoprotein cholesterol (HDL-C). HDL-bound paraoxonase-1 (PON1) is associated with variations in plasma HDL-C, and may, therefore, contribute to changes of HDL-C during statin therapy. DESIGN:The effects of baseline PON1 s...
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.1365-2796.2005.01557.x
更新日期:2005-11-01 00:00:00
abstract::Seventeen patients with mild to moderate hypertension, as indicated by a diastolic blood pressure (DPB) of 95-115 mmHg (WHO I), were treated in a randomized, double-blind, parallel study, with either 5 mg of fosinopril, a new phosphinic acid-containing angiotensin converting enzyme (ACE) inhibitor, or 25 mg of hydroch...
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.1365-2796.1991.tb00482.x
更新日期:1991-12-01 00:00:00
abstract:OBJECTIVE:The relationship between physical activity and cognitive function is intriguing but controversial. We performed a systematic meta-analysis of all the available prospective studies that investigated the association between physical activity and risk of cognitive decline in nondemented subjects. METHODS:We con...
journal_title:Journal of internal medicine
pub_type: 杂志文章,meta分析,评审
doi:10.1111/j.1365-2796.2010.02281.x
更新日期:2011-01-01 00:00:00
abstract::Pheochromocytoma endures as a life-threatening disorder. In the absence of systemic hypertension, diagnosis may be difficult. We present a 46-year-old normotensive male with a history of presyncope. One of these episodes could be documented, and revealed symptomatic bradycardia suspicious of sinus node arrest. Due to ...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1046/j.1365-2796.1997.00198.x
更新日期:1997-09-01 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::Obesity and its comorbidities, such as type 2 diabetes, are pressing worldwide health concerns. Available anti-obesity treatments include weight loss pharmacotherapies and bariatric surgery. Whilst surgical interventions typically result in significant and sustained weight loss, available pharmacotherapies are far les...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/joim.12837
更新日期:2018-12-01 00:00:00
abstract::Personalized medicine involves the selection of the safest and most effective pharmacological treatment based on the molecular characteristics of the patient. In the case of anticancer drugs, tumour cell alterations can have a great impact on drug activity and, in fact, most biomarkers predicting response originate fr...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/joim.12321
更新日期:2015-02-01 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:OBJECTIVES:To investigate the concordance of anti-hepatitis C virus (anti-HCV) reactivity by a second-generation enzyme immunoassay (EIA-2) and by a four-antigen recombinant immunoblot assay (4-RIBA) in homosexual men, in comparison with that found in other sexually active groups and blood donors. DESIGN:Prospective s...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1994.tb01122.x
更新日期:1994-07-01 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::The past few years have witnessed a major breakthrough in the understanding of the molecular mechanisms and ultrastructural changes behind the development of proteinuria. The discovery of several proteins in the glomerular podocyte and slit diaphragm, where mutations lead to disease, has revealed the importance of thi...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1046/j.1365-2796.2003.01207.x
更新日期:2003-09-01 00:00:00
abstract::Chronic nonvalvular atrial fibrillation is associated with an overall risk of thromboembolic complications of 4.5% per year. Advancing age, prior stroke or transient cerebral ischaemia, diabetes, hypertension, and impaired function of the left ventricle are known risk factors. Placebo-controlled trials have demonstrat...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1046/j.1365-2796.1999.00461.x
更新日期:1999-04-01 00:00:00