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Autism spectrum conditons in myotonic dystrophy type 1: A study on 57 individuals with congenital and childhood forms

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-

The impact of prostate-specific antigen level at diagnosis on the relative survival of 28,531 men with localized carcinoma of the prostate.

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

Cost-effectiveness of varenicline compared with nicotine patches for smoking cessation--results from four European countries.

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

Large-scale geographic patterns of genetic variation in Melica nutans, a widespread Eurasian woodland grass

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,

Electrical communication of cytochrome enriched Escherichia coli JM109 cells with graphite electrodes

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

The extent and pattern of organ damage in small vessel vasculitis measured by the Vasculitis Damage Index (VDI)

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

The association between common vitamin D receptor gene variations and osteoporosis : a participant-level meta-analysis

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

Magnetic resonance imaging of the knee in chronic knee pain. A 2-year follow-up

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

Recovery of urokinase from integrated mammalian cell culture cryogel bioreactor and purification of the enzyme using p-aminobenzamidine affinity chromatography

An integrated product recovery system was developed to separate urokinase from the cell culture broth of human kidney cells HT1080. Supermacroporous monolithic cryogels provided ideal matrices with respect to surface and flow properties for use as cell culture scaffold as well as for affinity chromatographic capture step of the enzyme in the integrated system. The urokinase was produced continuous

Excess mortality in incident cases of diabetes mellitus aged 15 to 34 years at diagnosis: a population-based study (DISS) in Sweden

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

Chemical and Thermal Unfolding of Glypican-1: Protective Effect of Heparan Sulfate against Heat-Induced Irreversible Aggregation

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

Anthropometric factors and risk of endometrial cancer: the European prospective investigation into cancer and nutrition

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

Flunarizine improves the survival of grafted dopaminergic neurons

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

Potential for lower absorbed dose in digital mammography: A JAFROC experiment using clinical hybrid images with simulated dose reduction

Purpose: To determine how image quality linked to tumor detection is affected by reducing the absorbed dose to 50% and 30% of the clinical levels represented by an average glandular dose (AGD) level of 1.3 mGy for a standard breast according to European guidelines. Materials and methods: 90 normal, unprocessed images were acquired from the screening department using a full-field digital mammograph

Impact of coil embolization on overall management and outcome of patients with aneurysmal subarachnoid hemorrhage

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

Female gender increases stiffness of elastic but not of muscular arteries in type I diabetic patients.

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

Biologic response to desmopressin in patients with severe type 1 and type 2 von Willebrand disease: results of a multicenter European study

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

Serum S100B and hypothermic circulatory arrest in adults

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

EULAR recommendations for cardiovascular disease risk management in patients with rheumatoid arthritis and other forms of inflammatory joint disorders : 2015/2016 update

Patients with rheumatoid arthritis (RA) and other inflammatory joint disorders (IJD) have increased cardiovascular disease (CVD) risk compared with the general population. In 2009, the European League Against Rheumatism (EULAR) taskforce recommended screening, identification of CVD risk factors and CVD risk management largely based on expert opinion. In view of substantial new evidence, an update