Abstract:
OBJECTIVES:The aim of the study was to define the phenotype in three families with mild haemophilia A and to determine restriction fragment length polymorphisms (RFLP), which could support a hypothesis of a common progenitor of the families. DESIGN:Family survey. SETTING:Index cases were identified in and outside hospital and a family survey for symptoms and signs of bleeding in family members and sampling for coagulation and RFLP studies were mostly carried out in the field. SUBJECT:Family members with and without symptoms of bleeding were selected for investigation and normal spouses and unrelated individuals were investigated for control. INTERVENTIONS:Medical advice regarding affected family members were given to the families and their physicians. MAIN OUTCOME MEASURES:Bleeding time, factor VIII activity, quantification of factor VIII:Ag, von Willebrand factor (vWF) Ag and vWF ristocetin assay. Typing of RFLP polymorphisms for genetic homogeneity. RESULTS:Bleeding manifestations are present in both sexes in the three families although more frequent and more severe in the males. The level of factor VIII activity is between 10 and 20% in most affected males whereas 35-60% is found approximately in 2/3 of female carriers and in 1/3 of them factor VIII activity is within the normal range. It is suggested that screening for this mild haemophilia A gene by a molecular genetic method would be of clinical value now, its mutation having been detected. CONCLUSIONS:Transmission of mild haemophilia A through six to seven generations is demonstrated by the study. The mild haemophilia A type described is the most prevalent of haemophilia A types in Iceland (population 260,000, 1992). The founder effect was confirmed by studies of RFLP polymorphisms.
journal_name
J Intern Medjournal_title
Journal of internal medicineauthors
Jensson O,Stenbjerg Bernvil S,Jónsdóttir S,Ingerslev Jdoi
10.1111/j.1365-2796.1994.tb01101.xsubject
Has Abstractpub_date
1994-05-01 00:00:00pages
443-50issue
5eissn
0954-6820issn
1365-2796journal_volume
235pub_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::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: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:OBJECTIVE:Patients undergoing bariatric surgery present long-term metabolic improvements and reduced type 2 diabetes risk, despite long-term weight regain. We hypothesized that part of these protective effects could be linked to altered gene expression in white adipose tissue (WAT). METHODS:Transcriptomic profiling by...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/joim.13066
更新日期:2020-08-01 00:00:00
abstract:AIM:Prevalence, optimal diagnostic approach and consequences of clinically unsuspected osteomyelitis in diabetic foot ulcers are unclear. Early diagnosis of this infection may be crucial to ensure correct management. METHODS:We conducted a prospective study in 20 diabetic patients with a chronic foot ulcer (>8 weeks) ...
journal_title:Journal of internal medicine
pub_type: 临床试验,杂志文章
doi:10.1111/j.1365-2796.2007.01877.x
更新日期:2008-01-01 00:00:00
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 ...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2796.2004.01356.x
更新日期:2004-08-01 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 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::Mucosal surfaces of the body serve as the major portal of entry for human immunodeficiency virus (HIV). These tissues also house a majority of the body's lymphocytes, including the CD4(+) T cells that are the major cellular target for HIV infection. Mucosal surfaces are defended by innate and adaptive immune mechanism...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2796.2008.02042.x
更新日期:2009-01-01 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::Millions of people worldwide receive agents targeting the renin-angiotensin system (RAS) to treat hypertension or statins to lower cholesterol. The RAS and cholesterol metabolic pathways in the brain are autonomous from their systemic counterparts and are interrelated through the cholesterol metabolite 27-hydroxychole...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/joim.12838
更新日期:2018-12-01 00:00:00
abstract:BACKGROUND:Patients with coronary artery disease (CAD) and left ventricular systolic dysfunction (LVSD) are often asymptomatic. Angiogenesis is implicated in the physiology of vascular repair and cardiac remodelling, and is one of many pathophysiological processes implicated in heart failure. We hypothesized that plasm...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.2008.02057.x
更新日期:2009-05-01 00:00:00
abstract::We observed two patients with hypercholesterolaemia and tendon xanthomas associated with apolipoprotein (apoE-7) E-7, a rare variant of the apoE isoforms. Both suffered from coronary artery disease and had undergone a coronary bypass operation. Their cholesterol levels were 268 and 310 mg dl-1, respectively. Both pati...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1994.tb01051.x
更新日期:1994-02-01 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::Irritable bowel syndrome (IBS) is a common functional gastrointestinal disorder that affects approximately 10% of the population. Diet triggers symptoms in the vast majority of individuals with IBS. In view of this, there has been a focus on the role of diet in IBS. The diets currently being headlined for IBS include ...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/joim.12966
更新日期:2019-11-01 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:OBJECTIVES:Red blood cell distribution width (RDW), a measure of variation in erythrocyte volume, has been associated with several cardiovascular disorders, but the relationship with atrial fibrillation (AF) remains unclear. We investigated the association between RDW and incidence of first hospitalization due to AF in...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/joim.12143
更新日期:2014-01-01 00:00:00
abstract::Pneumonia exhibits a broad range of severity, from mildly symptomatic at one end to fulminant septic shock and death at the other. Although an adequate inflammatory response is necessary for the clearance of microorganisms, excessive inflammation can lead to ongoing local and systemic damage. Because of this extended ...
journal_title:Journal of internal medicine
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2796.2012.02554.x
更新日期:2012-07-01 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::A 64-year-old lady with a personal and family history of autoimmune disease developed chronic myelomonocytic leukaemia and multiple myeloma simultaneously. Her sister died of acute myelomonocytic leukaemia, but showed no evidence of autoimmune disease. It is possible that chronic immunological stimulation, perhaps by ...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1991.tb00457.x
更新日期:1991-10-01 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:BACKGROUND:Heart failure is characterized by chronically increased adenosine levels, which are thought to express a protective anti-heart failure activation of the adenosinergic system. The aim of the study was to assess whether the activation of adenosinergic system in idiopathic dilated cardiomyopathy (IDC) can be mi...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.2003.01234.x
更新日期:2003-12-01 00:00:00
abstract::Serum creatine kinase (CK) is an important adjunct in the diagnosis of myocardial infarction or in monitoring for the side-effects of drugs. We report elevation of CK in patients with untreated heterozygous familial hypercholesterolaemia (FH) with no evidence of myocardial infarction. Of a group of 30 patients, 60% ha...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1990.tb00268.x
更新日期:1990-11-01 00:00:00
abstract:BACKGROUND:The aims of the study were (i) to examine which antithrombotic therapy patients with known atrial fibrillation use at the point of time when they suffer an ischaemic stroke, (ii) to evaluate the effects of optimal antithrombotic treatment on outcome and severity of the stroke. METHODS:Patients with known at...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.2005.01512.x
更新日期:2005-08-01 00:00:00
abstract:OBJECTIVE:Waist circumference is a clinical marker of obesity and an established risk factor for cardiovascular (CV) disease. Adiponectin, an adipocyte-derived hormone and new biomarker of obesity, was recently proposed as the missing link between obesity and increased cardiovascular risk. We evaluated waist and adipon...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.2009.02192.x
更新日期:2010-06-01 00:00:00
abstract:BACKGROUND:Patients with venous thromboembolism (VTE) secondary to transient risk factors may develop VTE recurrences after discontinuing anticoagulation. Identifying at-risk patients could help to guide the duration of therapy. METHODS:We used the RIETE database to assess the prognostic value of d-dimer testing after...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/joim.12969
更新日期:2020-01-01 00:00:00
abstract:OBJECTIVES:Hip and distal arm fractures are associated with osteoporosis in the postmenopausal female. In diabetic patients, bone mass has been found to be reduced leading to the hypothesis that diabetes is a risk factor for osteoporosis. Whether this has any clinical implication has only been sparsely elucidated. DES...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1111/j.1365-2796.1994.tb01284.x
更新日期:1994-08-01 00:00:00
abstract::In a 24-week randomized multicentre single-blind study, including mild to moderate hypertensives free from other diseases, the effect on blood lipids of captopril (n = 51) was studied and compared with that of metoprolol (n = 53). In order to keep the diastolic pressure less than 95 mm Hg, bendroflumethiazide was adde...
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.1365-2796.1990.tb00129.x
更新日期:1990-02-01 00:00:00
abstract:OBJECTIVES:To study the relationships between plasma renin activity and metabolic cardiovascular risk factors in patients with essential hypertension. SUBJECTS AND DESIGN:Patients with uncomplicated essential hypertension (n = 36) with a diastolic blood pressure of 95-115 mmHg were studied. Assessment of plasma renin ...
journal_title:Journal of internal medicine
pub_type: 杂志文章
doi:10.1046/j.1365-2796.1996.414756000.x
更新日期:1996-01-01 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