A 2-tier system of analysis for newborn screening for DMD has been established. This path for newborn screening fits our health care system, minimizes false-positive testing, and uses predetermined levels of CK on dried blood spots to predict DMD gene mutations.

Patients with FA have abnormal myocardial perfusion reserve that parallels met-S severity. Impaired perfusion reserve and fibrosis occur in the absence of significant hypertrophy and prior to clinical heart failure, providing potential therapeutic targets for stage B cardiomyopathy in FA and related myocardial diseases.

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Mucopolysaccharidosis (MPS) III are a group of four lysosomal storage diseases with severe neurological manifestation. While the primary pathology of MPS III is the lysosomal storage of heparan sulfates, detailed mechanisms of neuropathology are unclear. Using a mouse model, we showed that a profound neuroimmune response contributes to the CNS disease progression of MPS IIIB. Immune status in MPS III patients remains unexplored. Here, we tested peripheral blood from 12 patients with MPS III, including MPS IIIA and IIIB, to assess their immune status. White blood cell differential showed higher lymphocyte ratio (48-70%) in majority tested MPS III patients than healthy control children (41-54%). PBWC from all patients exhibited significant increase in 3H-thymidine-incorporation when stimulated ex vivo with an anti-CD3 or anti-CD40 antibody, suggesting the activation of T-cells and B-cells. Complement deposition assays showed increased levels of RBC-C4d and/or reticulocyte-C4d in majority patients, indicating an ongoing activation of the classical complement pathway. In addition, antinuclear antibodies were detected in the serum of 6 patients. No association was seen between immune activation and age/gender/disease forms. This is the first study that has demonstrated a chronic autoimmune status in MPS III patients, which may also contribute to the disease progression and may have potential as therapeutic target in these patients, as demonstrated in MPS IIIB mice.

IntroductionUpper limb surgery is a common burden on the active and ageing population, often resulting in a transient state of functional impairment. Many activities of daily living can be affected, including ability to drive. Currently there are no guidelines regarding safe return to driving following upper limb surgery. This scoping review aims to systematically review the current literature on the topic of driving following surgery to the upper limb.Methods and analysisInformed by the Preferred Reporting Items for Systematic Reviews and Meta-Analyses—Scoping Review extension guidelines, this protocol details the scoping review’s methodological and analytical approaches. The review will consider all primary and secondary source articles that examine return to driving following surgery to the upper limb, including the impact of orthoses on functional ability to drive. All studies will be included regardless of methodology and text and opinion pieces will also be considered. Studies conducted in any geographical location or setting will be included in the review. Systematic searches of scientific databases such as OVID (MEDLINE, EMBASE and Cochrane), NCBI (PubMed), Scopus, PsycINFO, EBSCOhost (CINAHL), Web of Science, Google Scholar and ProQuest will be conducted. In addition, relevant organisational websites, dissertations, theses from university repositories and grey literature will be included. Further articles will be identified by searching references of relevant studies. Studies conducted in English in any year will be included. Two independent reviewers will screen identified literature sources based on predetermined inclusion/exclusion criteria. Discrepancies will be resolved through discussion, therefore, negating the need for a third reviewer. Article data will be presented in tabular or graphical format along with a narrative summary.Ethics and disseminationEthics approval is not required. Findings will be disseminated through professional networks, peer-reviewed publications and conference presentations.