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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,
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
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
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 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
The purpose of this work was to develop a contrast-detail phantom that can be used to evaluate image quality in breast tomosynthesis (BT) and as a first step use it to evaluate in-plane artifacts with respect to object size and contrast. The phantom was constructed using a Polylite [registered trademark] resin as bulk material, as it has x-ray mass attenuation properties similar to polymethyl meth
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
Stomatopod crustaceans have the most complex assemblage of visual receptor classes known; retinas of many species are thought to express up to 16 different visual pigments. Physiological studies indicate that stomatopods contain up to six distinct middle-wavelength-sensitive (MWS) photoreceptor classes, suggesting that no more than six different MWS opsin gene copies exist per species. However, we
A T-cell permissive tumor microenvironment, characterized by the presence of activated T cells and low fibrotic activity is crucial for response to immune checkpoint inhibitors (ICIs). Granzyme B has been shown to promote T-cell migration through the basement membrane by the degradation of type IV collagen. In this study, we evaluated the biomarker potential of measuring granzyme B-mediated degrad
INTRODUCTION: Variants in collagen-related genes COL1A1, COL3A1, COL5A1 andCOL5A2 are associated with Ehlers-Danlos syndrome (EDS), a heterogeneous groupof connective tissue disorders strongly associated with increased bleeding. Of patientswith incompletely explained bleeding diathesis, a relatively high proportion were shown to harbour at least one heterozygous variant of unknown significance (VU
The most accepted taxonomic treatment of the New World sulphurs of the genus Phoebis Hübner, [1819] recognizes 16 species including those in the current synonyms Aphrissa and Rhabdodryas. This total conflicts with the results of several recent pierid DNA barcode studies across the Neotropics. We used a five-locus dataset to carry out species delimitation analyses using the coalescence-based method
BACKGROUND: Blood loss and adult blood transfusions are common during the neonatal period in preterm infants. The objective of the study was to clarify if degree of loss of fetal haemoglobin (HbF) was associated with later retinopathy of prematurity (ROP).METHODS: Retrospective observational cohort study. In total, 452 infants born <30 gestational weeks at a tertiary level neonatal intensive care
Objective: To examine Facial Emotion Recognition (FER) and visual scanning behavior (eye-tracking) during FER in women long-term recovered from teenage-onset anorexia nervosa (recAN) with and without autism spectrum disorder (±ASD) and age-matched comparison women (COMP), using a sensitive design with facial emotion expressions at varying intensities in order to approximate real social contexts. M
Aim: To evaluate the frequency of temporomandibular disorder (TMD) pain among adolescents with a history of preterm birth compared to a matched control group. Methods: A group of 192 preterm-born adolescents was followed up at the age of 17-19 years and compared to matched controls. Self-report questionnaires included screening questions about TMD pain, chronic diseases, general health, depression
