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Thirty-nine members, ages 1 to 67 years, of a Swedish family with rippling muscle disease (RMD) were investigated to assess genotype phenotype correlations. Clinical, neurophysiological, and muscle morphological examinations were performed. Genetic analysis was performed in 38 individuals. Twenty-three patients had percussion-induced muscle mounding (PIMM) and percussion-induced rapid contractions
The molecular motor dynein and its associated regulatory subunit dynactin have been implicated in several neurodegenerative conditions of the basal ganglia, such as Huntington's disease (HD) and Perry syndrome, an atypical Parkinson-like disease. This pathogenic role has been largely postulated from the existence of mutations in the dynactin subunit p150(Glued). However, dynactin is also able to a
A search for high-mass resonances decaying into tau(+)tau(-) final states using proton-proton collisions at root s = 8 TeV produced by the Large Hadron Collider is presented. The data were recorded with the ATLAS detector and correspond to an integrated luminosity of 19.5-20.3 fb(-1). No statistically significant excess above the Standard Model expectation is observed; 95% credibility upper limits
BACKGROUND AND PURPOSE: In failed total ankle replacements (TARs), fusion is often the procedure of preference; the outcome after exchanging prosthetic components is debated. We analyzed prosthetic survival, self-reported function, and patient satisfaction after component exchange. Patients and methods We identified patients in the Swedish Ankle Registry who underwent exchange of a tibial and/or t
Although it is known that lead is a neurotoxin that negatively impacts cognitive functions at low blood concentrations (B-Pb), little is known about the impact of early exposure on later cognitive functions.
Hematopoietic stem cells (HSCs) reside and self-renew in the bone marrow (BM) niche. Overall, the signaling that regulates stem cell dormancy in the HSC niche remains controversial. Here, we demonstrate that TGF-beta type II receptor-deficient HSCs show low-level Smad activation and impaired long-term repopulating activity, underlining the critical role of TGF-beta/Smad signaling in HSC maintenanc
In experiments investigating dynamic tasks, it is often useful to examine eye movement scan patterns. We can present trials repeatedly and compute within-subjects/conditions similarity in order to distinguish between signal and noise in gaze data. To avoid obvious repetitions of trials, filler trials must be added to the experimental protocol, resulting in long experiments. Alternatively, trials c
Two years of harmonized aerosol number size distribution data from 24 European field monitoring sites have been analysed. The results give a comprehensive overview of the European near surface aerosol particle number concentrations and number size distributions between 30 and 500 nm of dry particle diameter. Spatial and temporal distribution of aerosols in the particle sizes most important for cli
The aim of this study was to examine potential risk factors for GCA in a nested case-control study based on two prospective health surveys.
A search for the pair production of heavy leptons (N-0, L-+/-) predicted by the type-III seesaw theory formulated to explain the origin of small neutrino masses is presented. The decay channels N-0 -> W(+/-)l(+/-) (l = e, mu, tau) and L-+/- -> W(+/-)v (v = v(e), v(mu), v(tau)) are considered. The analysis is performed using the final state that contains two leptons (electrons or muons), two jets f
Families of generalized spatially-coupled low-density parity-check (GSC-LDPC) code ensembles can be formed by terminating protograph-based generalized LDPC convolutional (GLDPCC) codes. It has previously been shown that ensembles of GSC-LDPC codes constructed from a protograph have better iterative decoding thresholds than their block code counterparts, and that, for large termination lengths, the
Fungus-growing (attine) ants and their fungal symbionts passed through several evolutionary transitions during their 50 million year old evolutionary history. The basal attine lineages often shifted between two main cultivar clades, whereas the derived higher-attine lineages maintained an association with a monophyletic clade of specialized symbionts. In conjunction with the transition to speciali
Introduction: Our objective was to study mandibular widening in untreated subjects with hemifacial microsomia. Methods: From the 3-dimensional files at the Department of Plastic and Reconstructive Surgery, Skane University Hospital in Malmo, Sweden, data of 11 subjects (3 girls, 8 boys) with hemifacial microsomia were retrieved. Their age range was 9 years 2 months to 13 years 2 months at the firs
In this article I focus on women's advancement in the Swedish labour market during more than a century. By applying a long-term perspective I give the historical background to what is commonly seen as a success story. By reassessing census and labour force survey data I show that participation rates may tell a misleading tale not only for the past but also for the present. In a long-term perspecti
In this study well-ordered glycerol monooleate (GMO)-based cubic liquid crystalline nanoparticles (LCNPs) have been used as substrates for Thermomyces lanuginosus lipase in order to establish the relation between the catalytic activity, measured by pH-stat titration, and the change in morphology and nanostructure determined by cryogenic transmission electron microscopy and synchrotron small angle
Concentration of viable cell populations in suspension is of interest for several clinical and pre-clinical applications. Here, we report that microfluidic acoustophoresis is an effective method to efficiently concentrate live and viable cells with high target purity without any need for protein fluorescent labeling using antibodies or over-expression. We explored the effect of the acoustic field
Primary Sjogren's syndrome (pSS) is a chronic autoimmune disease characterized by a lymphocytic exocrinopathy. However, patients often have evidence of systemic autoimmunity, and they are at markedly increased risk for the development of non-Hodgkin's lymphoma. Similar to other autoimmune disorders, a strong interferon (IFN) signature is present among subsets of pSS patients, although the precise
The article reports and discusses a long-term qualitative study of forty 8-10 year old students who regularly played a math game during math lessons for 9 weeks. The goal was to explore the relations between (i) some of the pedagogical principles that underlie the game and (ii) the playing practice in terms of what actually takes place when students play the math game during regular math lessons.
