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Myotonic dystrophy type 1 (DM1) is an autosomal dominant disorder, caused by an expansion of a CTG triplet repeat in the DMPK gene. The aims of the present study were to classify a cohort of children with DM1, to describe their neuropsychiatric problems and cognitive level, to estimate the size of the CTG expansion, and to correlate the molecular findings with the neuropsychiatric problems. Fifty-

BACKGROUND.: To evaluate the predictive value of prostate-specific antigen (PSA) in a population-based cohort, the authors analyzed relative survival in all men with localized prostate cancer who were registered in the Swedish National Prostate Cancer Register (NPCR) from 1996 to 2005. METHODS.: All men aged <75 years with localized tumors were identified in the NPCR. A Poisson regression analysis

BACKGROUND: The aim of this study was to evaluate and compare the cost-effectiveness of varenicline with nicotine replacement therapy (NRT) for smoking cessation in four European countries (Belgium, France, Sweden and the UK). METHODS: Markov simulations, using the Benefits of Smoking Cessation on Outcomes (BENESCO) model, were performed. We simulated the incidence of four smoking-related morbidit

The geographic distribution of allozyme variation within the Eurasian boreo-nemoreal woodland grass Melica nutans L. has been investigated together with a minor subset of other Melica species. Twenty alleles were found at nine polymorphic loci in M. nutans. Allelic richness was highest in areas central in the species' European distribution, i.e. in southern Fennoscandia. High population densities,

In the present study three different strains of Escherichia coli (JM 109 - a native "wild type" strain, JM 109/pBSD 1300 - a strain overproducing the membrane anchor domain of Bacillus subtilis succinate-quinone reductase, SQR, a protein that contains two transmembraneously arranged heme groups and JM109/pLUV 1900 - a strain overproducing cytochrome c(550) from B. subtilis, a protein where the cyt

Objectives: To assess the extent and pattern of irreversible organ damage in patients with Wegener's granulomatosis (WG), microscopic polyangiitis (MPA), polyarteritis nodosa (PAN), and Churg-Strauss syndrome (CSS) by a cross-sectional point prevalence study within a defined geographical area. Methods: The Vasculitis Damage Index (VDI) was recorded for 86 prevalent cases, classified as 46 patients

BACKGROUND: Polymorphisms of the vitamin D receptor (VDR) gene have been implicated in the genetic regulation of bone mineral density (BMD). However, the clinical impact of these variants remains unclear.OBJECTIVE: To evaluate the relation between VDR polymorphisms, BMD, and fractures.DESIGN: Prospective multicenter large-scale association study.SETTING: The Genetic Markers for Osteoporosis consor

Objective: The aim of the study was to evaluate the change over time of cartilage defects, subchondral lesions and meniscal abnormalities of the knee using magnetic resonance (MR) imaging with a 2-year interval in patients with chronic knee pain. Design: In the format of a prospective study of early osteoarthritis (OA), the signal knee (most painful at the inclusion in the study 1990) in 47 indivi

Aims/hypothesis: The objective of the study was to analyse the mortality, survival and cause of death patterns in incident cases of diabetes in the 15-34-year age group that were reported to the nationwide prospective Diabetes Incidence Study in Sweden (DISS). Methods: During the study period 1983-1999, 6,771 incident cases were reported. Identification of deaths was made by linking the records to

Glypicans are cell-surface heparan sulfate proteoglycans that influence Wnt, hedgehog, decapentaplegic, and fibroblast growth factor activity via their heparan sulfate chains. However, recent studies have shown that glypican core proteins also have a role in growth factor signaling. Here, we expressed secreted recombinant human glypican-1 in eukaryotic cells. Recombinant glypican-1 was expressed a

Objective To examine the association between anthropometry and endometrial cancer, particularly by menopausal status and exogenous hormone use subgroups. Methods Among 223,008 women in the European Prospective Investigation into Cancer and Nutrition (EPIC) study, there were 567 incident endometrial cancer cases during 6.4 years of follow-up. The analysis was performed with Cox proportional hazards

Embryonic nigral grafts can survive, reinnervate the striatum and reverse functional deficits in both experimental and clinical Parkinsonism. A major drawback is that only around 10% of the implanted dopaminergic neurons survive. The underlying mechanisms leading to this 90% cell death are not fully understood, but oxidative stress and a substantial loss of neurotrophic support are likely to be in

Objective: We report on the consequences of introducing coil embolization for the total management of and outcome in patients with subarachnoid hemorrhage (SAH). Methods: In southern Sweden, a prospective analysis of all patients with SAH of verified aneurysmal origin was conducted during the 3 years when coiling was gradually being introduced. The incidence of acute or chronic hydrocephalus, vaso

The reason for the particularly increased risk for cardiovascular complications in diabetic women is still unclear. We have previously found decreased distensibility of elastic arteries in type I diabetic women, indicating increased cardiac load, not seen in type I diabetic men, which might be one contributing factor. Whether the effect of gender is different in muscular arteries in type I diabeti

This study prospectively evaluated the rate of biologic response to desmopressin (DDAVP) in 66 patients with type I or 2 von Willebrand disease (VWD), each of whom had, on the basis of available records, a clinically significant bleeding history and at least one of the following laboratory abnormalities: bleeding time (BT) longer than 15 minutes, ristocetin cofactor activity (VWF:RCo) less than 10

BACKGROUND: Cerebral injury is the most important complication of cardiac operations with cardiopulmonary bypass. Prolonged total circulatory arrest (TCA) can expose patients to an even greater risk of cerebral injury. We sought to detect the degree of cerebral injury in adults who had thoracic aortic operations with TCA by measuring S100B protein, which is released into the circulation after cere

Objective: To examine foetal lung blood perfusion using power Doppler ultrasound (PDU) and to compare fractional moving blood volume (FMBV) and mean pixel intensity (MPI) estimations in the lungs of normally grown (NG) foetuses and foetuses with intrauterine growth restriction (IUGR) and also to correlate foetal lung FMBV and MPI with respiratory complications after birth. Methods: Lungs of 47 NG