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 confirmed by molecular diagnosis. There were no exclusion criteria; all patients were included in the demographic and genetic study. A total of 92% participants completed the questionnaire study and 82% the biochemical study. RESULTS:The prevalence of EPP was 1 : 180,000. Nine novel ferrochelatase gene mutations were found. The most commonly reported age at onset of symptoms was the first year of life and the mean age at diagnosis was 22 years. Painful photosensitivity was the main symptom. Exogenous factors other than sunlight were frequently reported to cause cutaneous symptoms. One in five patients reported a positive effect of beta-carotene therapy. A marked impact of EPP on quality of life was reported. Women had a significantly lower mean erythrocyte protoporphyrin concentration than men. Of all participants, 84% had insufficient vitamin D concentrations, 44% had below normal serum ferritin or transferrin saturation levels and red cell abnormalities were common. CONCLUSIONS:The notably delayed diagnosis suggests the need for an increased awareness of EPP. Disturbed erythropoiesis, biochemical signs of iron deficiency and low vitamin D levels are frequent findings in this disease. New and better treatments are needed as current treatment options for symptom amelioration are limited. Vitamin D supplementation should be considered.
journal_name
J Intern Medjournal_title
Journal of internal medicineauthors
Wahlin S,Floderus Y,Stål P,Harper Pdoi
10.1111/j.1365-2796.2010.02236.xsubject
Has Abstractpub_date
2011-03-01 00:00:00pages
278-88issue
3eissn
0954-6820issn
1365-2796pii
JIM2236journal_volume
269pub_type
杂志文章abstract::In order to study the influence of fish oil on CyA-induced renal dysfunction, 13 patients with psoriasis (CyA group) received cyclosporin A (CyA) alone, and seven patients (CyA/EPA + DHA group) received a combination of cyclosporin A and fish oil (6g eicosapentaenoic acid, C20:5 omega-3, and docosahexaenoic acid, C22:...
journal_title:Journal of internal medicine
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1111/j.1365-2796.1989.tb01421.x
更新日期:1989-12-01 00:00:00
abstract:OBJECTIVES:To assess the clinical course of renal function in relation to risk factors in NIDDM patients with normo- and microalbuminuria. DESIGN:Prospective clinical study. SETTING:Outpatient diabetic clinic. SUBJECTS:Thirty-two NIDDM patients with normo- or microalbuminuria followed for (mean (range)) 5.5 (3.3-7.5...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1046/j.1365-2796.1997.93107000.x
更新日期:1997-02-01 00:00:00
abstract:OBJECTIVE:Findings from animal studies indicate that growth hormone (GH) may stimulate the production of the putative metabolic regulator fibroblast growth factor 21 (FGF21). We investigated whether circulating FGF21 levels are altered in patients with GH deficiency and characterized how levels of this growth factor ar...
journal_title:Journal of internal medicine
pub_type: 杂志文章,多中心研究
doi:10.1111/joim.12112
更新日期:2013-09-01 00:00:00
abstract:OBJECTIVE:Plasma fibrinogen predicts cardiovascular events in patients with stable peripheral arterial occlusive disease, but its predictive value in patients with chronic critical limb ischaemia, a condition associated with a high risk of death, is unknown. DESIGN:A prospective cohort study. SETTING:Determination of...
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
abstract:BACKGROUND:Elevated plasma levels of bilirubin, an endogenous antioxidant, have been associated with reduced risk of ischaemic heart disease (IHD) and myocardial infarction (MI). Whether this is a causal relationship remains unclear. OBJECTIVE:We tested the hypothesis that elevated plasma bilirubin is causally related...
journal_title:Journal of internal medicine
pub_type: 杂志文章,meta分析
doi:10.1111/j.1365-2796.2012.02576.x
更新日期:2013-01-01 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:OBJECTIVES:To evaluate the concentrations of magnesium (Mg), potassium (K) and sodium,potassium pumps (Na,K pumps) in skeletal muscle in patients with chronic obstructive lung disease (COLD) treated with or without diuretics. DESIGN:An open cross-sectional study. SETTING:COLD patients admitted to the Medical Departme...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1046/j.1365-2796.1997.69891000.x
更新日期:1997-01-01 00:00:00
abstract:BACKGROUND:Intravenous nitrate therapy has been shown to improve short-term outcome of acute heart failure patients treated in the intensive care unit. The potential of a noninvasive high-dose nitrate strategy in the Emergency Department and the general ward remains unknown. METHODS:A total of 128 consecutive acute he...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.2009.02146.x
更新日期:2010-03-01 00:00:00
abstract::This study was performed to evaluate thyroid and adrenal function in patients with familial amyloidotic polyneuropathy. Twenty-four patients without any clinical overt endocrinological dysfunction were studied. None of the patients showed laboratory evidences of hypo- or hyperthyroidism. A short ACTH-stimulation test ...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1989.tb00091.x
更新日期:1989-05-01 00:00:00
abstract:BACKGROUND:Periodontal disease is associated with cardiovascular disease (CVD) but it is unknown if periodontal disease severity is associated with asymptomatic carotid plaque. The aim of the current population-based, observational study was to investigate if signs of periodontal disease are associated with the occurre...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/joim.12998
更新日期:2020-03-01 00:00:00
abstract:OBJECTIVES:To examine the occurrence over time of the metabolic syndrome (MetS) according to different definitions and the relation to change during follow-up in carotid artery intima-media thickness (IMT), measured by ultrasound. DESIGN:A cohort of 316, originally 58-year-old men, initially free of diabetes and cardi...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.2005.01511.x
更新日期:2005-07-01 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::Findings from preclinical and clinical studies show that vascular normalization represents a novel strategy to enhance the efficacy of and overcome the acquired resistance to anti-angiogenic therapies in cancer. Several mechanisms of tumour vessel normalization have been revealed. Amongst them, secreted class 3 semaph...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/joim.12017
更新日期:2013-02-01 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:Mixed cryoglobulinaemia (MC) and autoimmune chronic hepatitis (AI-CH) are frequently associated with hepatitis C virus (HCV) chronic infection. Because HCV represents a possible common aetiological factor, the aim of the present study is to investigate the clinico-serological alterations of both MC and AI-CH...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1994.tb01116.x
更新日期:1994-07-01 00:00:00
abstract::In healthy individuals, insulin resistance is associated with physiological conditions such as pregnancy or body weight gain and triggers an increase in beta cell number and insulin secretion capacity to preserve normoglycaemia. Failure of this beta cell compensation capacity is a fundamental cause of diabetic hypergl...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/joim.12096
更新日期:2013-09-01 00:00:00
abstract::A 42-year-old man presented with a mediastinal tumour. On histological examination, tuberculosis was evoked, but no definitive conclusion could be drawn. The patient thereafter developed throat ulcerations and rapidly progressing renal insufficiency due to necrotizing glomerulonephritis. After reviewing the histologic...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1990.tb00146.x
更新日期:1990-03-01 00:00:00
abstract::The success of antiretroviral therapy in treating HIV infection has greatly prolonged life expectancy in affected individuals, transforming the disease into a chronic condition. A number of HIV-associated non-AIDS comorbidities have emerged in the ageing HIV-infected population, including osteoporosis and increased ri...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/joim.12520
更新日期:2016-10-01 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::Orthostatic hypotension (OH) is a relatively common heterogenous and multifactorial disorder, traditionally classified as neurogenic (less common but often more severe) or nonneurogenic (more common, with no direct signs of autonomic nervous system disease). The different clinical variants of orthostatic intolerance i...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/joim.12021
更新日期:2013-04-01 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::Many people infected with the human immunodeficiency virus type-1 (HIV) exhibit mild or severe neurological problems, termed HIV-associated neurocognitive disorder (HAND), even when receiving antiretroviral therapy. Thus, novel adjunctive therapies must be developed to overcome the neurotoxic effect of HIV. New therap...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/joim.12050
更新日期:2013-05-01 00:00:00
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 su...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1046/j.1365-2796.2001.00761.x
更新日期:2001-01-01 00:00:00
abstract::The fight against doping in sports commenced as a result of the death of a Danish cyclist during the Rome Olympic Games in 1960. The International Olympic Committee (IOC) established a Medical Commission (IOC-MC) which had the task of designing a strategy to combat the misuse of drugs in Olympic Sport. Some Internatio...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2796.2008.01993.x
更新日期:2008-08-01 00:00:00
abstract::During a 10-year period 39 patients with acromegaly, aged 23-73 years, underwent selective adenomectomy via a trans-sphenoidal or transfrontal (one case) approach. Six to 12 months after the operation, the serum level of growth hormone (GH) was reduced to less than 5 micrograms l-1 in 28 patients (74%) in at least two...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1991.tb00405.x
更新日期:1991-07-01 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
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:OBJECTIVE:The aim of the study was to quantify the inter-relationship between bone mineral density and physical activity, muscle strength, and body mass composition in a group of healthy 16-20-year-old women. DESIGN:A cross-sectional study. SETTING:Reykjavik area. SUBJECTS:Two-hundred and fifty-four Icelandic Caucas...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1046/j.1365-2796.1999.00486.x
更新日期:1999-05-01 00:00:00
abstract:OBJECTIVES:We aimed to characterize the clinical experiences of patients in whom heparin-induced thrombocytopenia (HIT) complicated heparin therapy for venous thromboembolism (VTE) and who switched to argatroban. DESIGN:A retrospective analysis of previously reported prospective, multicentre, historical-controlled Arg...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.2005.01573.x
更新日期:2005-12-01 00:00:00
abstract::The association between dental infections and cerebral infarction was investigated in a case-control study involving 40 patients with ischaemic cerebral infarction under the age of 50, and 40 randomly selected community controls matched for sex and age. Poor oral health, as assessed by two indices measuring the severi...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1989.tb00060.x
更新日期:1989-03-01 00:00:00