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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-
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 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
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
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
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
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
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
Objective. - To study the impact of preschool outdoor environments on children's physical activity and solar ultraviolet (UV) exposure at different latitudes and countries. Methods. Outdoor environments of 11 preschools (two in Raleigh NC, USA, Lat.36 degrees N, nine in Malmo, Sweden, Lat.55 degrees N) were scored (OPEC) regarding space, vegetation, hilly terrain and level of integration between o
Amphibians are declining worldwide, but lack of long-term regional data makes identifying possible causes difficult, hindering conservation efforts. We evaluated whether habitat destruction, terrestrial habitat adjacent to ponds and the physico-chemical characteristics of ponds could explain the regional and local decline of the spadefoot toad (Pelobates fuscus) in Sweden. Analyses of aerial photo
Smoking is a well-established risk factor for cardiovascular disease. Studies have indicated that smoking may outweigh the benefit of blood pressure (BP) control. Our aim was to compare cardiovascular risk factors in smokers vs non-smokers from a national sample of treated hypertensives. Data were collected on smoking habits, BP control, total and low-density lipoprotein (LDL) cholesterol, diabete
Background During the last 15 years, high-dose chemotherapy with autologous hematopoietic stem cell transplantation (HSCT) has globally been performed for severe multiple sclerosis (MS). Most patients have been in progressive phase with long disease duration. As a rule, treatment effect has been minor or moderate. Patients Since 2004, we have performed HSCT in nine young patients with "malignant"
Background & Aims: Preterm birth and formula feeding are key risk factors associated with necrotizing enterocolitis (NEC) in infants, but little is known about intestinal conditions that predispose to disease. Thus, structural, functional, and microbiologic indices were used to investigate the etiology of spontaneous NEC development in preterm pigs. Methods : Piglets were delivered by cesarean
Asymmetrical flow field-flow fractionation (AsFIFFF) in combination with multi-angle light scattering (MALS) was applied to cationic potato amylopectin (CPAP) to investigate how molar mass, root-mean-square (r.m.s.) radius and shape was influenced by different conditions of jet-cooking. The effect of different jet-cooking temperatures in the range 110 degrees C - 140 degrees C was studied in an ex
OBJECTIVE: Prostate cancer cells secrete the unique protease human glandular kallikrein 2 (hK2) that represents a target for proteolytic activation of cytotoxic prodrugs. The objective of this study was to identify hK2-selective peptide substrates that could be coupled to a cytotoxic analogue of thapsigargin, a potent inhibitor of the sarcoplasmic/endoplasmic reticulum calcium ATPase pump that ind
Objective Short bowel syndrome patients frequently experience impaired health-related quality of life. This syndrome is also associated with increased costs for the individuals concerned and the community. Intake of specially processed cereals has been demonstrated to decrease intestinal secretion. This study evaluates the effect of a supplementary diet with specially processed cereals compared wi
Asthma-like symptoms, methacholine hyperresponsiveness, and use of asthma medication are prevalent in elite cross-country skiers. We quantitated mucosal inflammatory cell infiltration and tenascin expression in the subepithelial basement membrane in endobronchial biopsy specimens of the proximal airways from 40 elite, competitive skiers (mean: 17.5; range: 16 to 20 yr) without a diagnosis of asthm
