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BACKGROUND: Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterised by progressive neurological degeneration, where the rate of neurological disease progression varies depending on age at neurological onset. We report longitudinal data on functional disease progression and safety observations in patients in the international NPC Registry who received continuous treatment w
Defensive coping (DefS), oxidative stress, inflammation, and related amino acids (phenylalanine [Phe] and tyrosine [Tyr]) have been implicated in cardiovascular disease. This study assessed whether inflammation, oxidative stress, changes in essential amino acids, and altered coping strategies are correlated with subclinical vascular changes in African (n = 82) and Caucasian (n = 100) men from the
Results of a search for new phenomena in events with an energetic photon and large missing transverse momentum with the ATLAS experiment at the Large Hadron Collider are reported. The data were collected in proton-proton collisions at a centre-of-mass energy of 13 TeV and correspond to an integrated luminosity of 3.2 fb−1. The observed data are in agreement with the Standard Model expectations. Ex
A search is presented for dark matter produced in association with a hadronically decaying W or Z boson using 3.2 fb-1 of pp collisions at √ s = 13 TeV recorded by the ATLAS detector at the Large Hadron Collider. Events with a hadronic jet compatible with a W or Z boson and with large missing transverse momentum are analysed. The data are consistent with the Standard Model predictions and are inte
Background: High-throughput sequencing enables high-resolution genotyping of extremely duplicated genes.454 amplicon sequencing (454) has become the standard technique for genotyping the major histocompatibilitycomplex (MHC) genes in non-model organisms. However, illumina MiSeq amplicon sequencing (MiSeq), which offersa much higher read depth, is now superseding 454. The aim of this study was to q
Objective: A pay for performance programme was introduced in 2009 by a Swedish county with 1.6 million inhabitants. A process measure with payment linked to coding for medication reviews among the elderly was adopted. We assessed the association with inappropriate medication for five years after baseline.Design and setting: Observational study that compared medication for elderly patients enrolled
This study is devoted to the calibration of a backpack radiation detection system (BPRDS) for evaluation of the external dose to a person staying in an environment contaminated by 137Cs. A commercially available portable gamma-ray spectrometer-dosemeter based on a NaI(Tl) detector was used. By means of information in the pulse-height distribution, it has been possible to separate the technogenic a
Background and aim: Research regarding patients undergoing total hip arthroplasty (THA) has shown no significant difference in postoperative pain with or without the use of local infiltration analgesia (LIA). The aim was to evaluate whether intra-operative LIA with Ropivacaine in patients undergoing THA under general anaesthesia reduces postoperative pain. Method: A randomised, placebo-controlled
BACKGROUND: The Redesigning Daily Occupations (ReDO™) work rehabilitation method has been found effective, compared with care as usual (CAU), for women with stress-related disorders. OBJECTIVE: To conduct a long-Term follow-up of former ReDO™ and CAU participants with respect to sick leave, well-being and everyday occupations 3-4 years after completed work rehabilitation. METHODS: Forty-Two women
Background: Adjuvant chemotherapy is standard treatment for other solid tumours, but to date has not proven effective in prostate cancer. Objective: o evaluate whether six cycles of docetaxel alone improve biochemical disease-free survival after radical prostatectomy for high-risk prostate cancer. Design, setting, and participants: Open-label, randomised multinational phase 3 trial. Enrolment of 4
A search is performed for new phenomena in events having a photon with high transverse momentum and a jet collected in 36.7fb-1 of proton–proton collisions at a centre-of-mass energy of s = 13 TeV recorded with the ATLAS detector at the Large Hadron Collider. The invariant mass distribution of the leading photon and jet is examined to look for the resonant production of new particles or the presen
Current trends in energy supply and use within the building sector in Egypt are patently unsustainable and uneconomical; they are not environmentally and sometimes not even socially viable. Renewable energy has recently started to attract considerable attention as a future energy source. After major problems with electricity blackouts the photovoltaic (PV) market, in particular, has been growing s
The study describes the first glycoside hydrolase that exhibits comparable levels of activity on α- and β-linked saccharide substrates. This enzyme, assigned into GH109, is encoded by the genome of the human gut symbiont Akkermansia muciniphila that is a model primary degrader of the heavily O-glycosylated mucin glycoprotein that coats the epithelial enterocytes.The elusive catalytic acid/base cat
Enzymes active on glycosidic bonds are defined according to the stereochemistry of both substrates and products of the reactions they catalyze. The CAZy classification further assigns these enzymes into sequence-based families sharing a common stereochemistry for substrates (either α- or β-) and products (i.e., inverting or retaining mechanism). Here we describe the N-acetylgalactosaminidases AmGH
A search for new resonances decaying into a pair of jets is reported using the dataset of proton-proton collisions recorded at s = 13 TeV with the ATLAS detector at the Large Hadron Collider between 2015 and 2018, corresponding to an integrated luminosity of 139 fb−1. The distribution of the invariant mass of the two leading jets is examined for local excesses above a data-derived estimate of the
The United Arab Emirates National Diabetes and Lifestyle Study (UAEDIAB) has identified obesity, hypertension, obstructive sleep apnea, and dyslipidemia as common phenotypic characteristics correlated with diabetes mellitus status. As these phenotypes are usually linked with genetic variants, we hypothesized that these phenotypes share single nucleotide polymorphism (SNP)-clusters that can be used
BACKGROUND: One-year mortality after hip-fracture is a widely used outcome measure when comparing hospital care performance. However, traditional analyses do not explicitly consider the referral of patients to municipality care after just a few days of hospitalization. Furthermore, traditional analyses investigates hospital (or municipality) variation in patient outcomes in isolation rather than a
