From exercise intolerance to functional improvement: The second wind phenomenon in the identification of McArdle disease

McArdle disease is the most common of the glycogen storage diseases. Onset of symptoms is usually in childhood with muscle pain and restricted exercise capacity. Signs and symptoms are often ignored in children or put down to 'growing pains' and thus diagnosis is often delayed. Misdiagnosis is not uncommon because several other conditions such as muscular dystrophy and muscle channelopathies can manifest with similar symptoms. A simple exercise test performed in the clinic can however help to identify patients by revealing the second wind phenomenon which is pathognomonic of the condition. Here a patient is reported illustrating the value of using a simple 12 minute walk test.RSS is funded by Ciências sem Fronteiras/CAPES Foundation. The authors would like to thank the Association for Glycogen Storage Disease (UK), the EUROMAC Registry funded by the European Union, the Muscular Dystrophy Campaign, the NHS National Specialist Commissioning Group and the Myositis Support Group for funding

Beyond States: A Constitutional History of Territory, Statehood, and Nation-Building

The United States has always been more than simply a group of united states. The constitutional history of national union and component states is linked to a third category: federal territory. This Article uses an integrated history of territory, statehood, and union to develop a new framework for analyzing constitutional statehood. Three historical periods are crucial—the Founding Era, the Civil War, and Reconstruction—as times when statehood was especially malleable as a matter of constitutional law. During each of those formative periods, the most important constitutional struggles about statehood and the union involved federal territories. Conflicts about territories reveal an important distinction between theories of states’ constitutional authority to participate in national politics (the “skeleton” of statehood) and their constitutional authority to resist the national government (the “muscle” of statehood). The skeletal authority of states to participate in federal politics has been legally explicit and essential since the Articles of Confederation. By comparison, advocates for muscular states’ rights have relied on dubious inferences and historical distortions. During the Founding Era and the Civil War, pivotal disputes concerning territories were resolved to favor the skeleton of representational statehood instead of the muscular statehood of antifederal resistance. During Reconstruction, however, the Supreme Court created new doctrines of muscular statehood that were based on inaccurate histories of the Founding and the Civil War. Judicial decisions like the Slaughter-House Cases and the Civil Rights Cases applied those doctrinal theories of muscular statehood to limit individual rights and congressional power under the Reconstruction Amendments. In the late twentieth century, such precedents gained force after the confirmation of politically conservative Supreme Court Justices, and similar doctrines might be even more powerful with the modern Court’s conservative supermajority

Medium to long-term outcome of thoracoscapular arthrodesis with screw fixation for facioscapulohumeral muscular dystrophy

Background: Shoulder girdle muscle weakness is the most constant feature of facioscapulohumeral muscular dystrophy and leads to scapular winging. Mechanical fixation of the scapula to the thoracic wall provides a stable fulcrum on which the deltoid muscle can exert its action on the humerus. The aim of this study was to evaluate the medium to long-term outcome of thoracoscapular arthrodesis with screw fixation (the modified Howard-Copeland technique). Methods: All patients with facioscapulohumeral dystrophy who underwent thoracoscapular arthrodesis with screw fixation and bone-grafting from July 1997 to July 2010 were retrospectively reviewed. Preoperative and postoperative clinical assessment included active shoulder elevation, the Constant score, a patient satisfaction score, and cosmetic satisfaction. Union was determined both clinically and radiographically. Results: Thoracoscapular arthrodesis was performed in thirty-five shoulders in twenty-four patients; eleven patients underwent bilateral procedures. The principal study group consisted of thirty-two shoulders in twenty-one patients with a minimum follow-up of twenty-four months (Mean, eighty-eight months; range, twenty-four to 174 months). The mean Constant score increased from 30 (range, 17 to 41) preoperatively to 61 (range, 30 to 90) postoperatively. The mean satisfaction score increased from 1 (range, 0 to 4) to 8.4 (range, 4 to 10). Early complications consisted of one pneumothorax, one superficial wound infection, and four early failures, two of which were associated with noncompliance with the postoperative regimen. Late complications consisted of one posttraumatic fracture resulting in loosening and one painful nonunion; both were treated successfully with revision. Conclusions: Thoracoscapular arthrodesis with screw fixation prevented scapular winging and improved short-term and long-term shoulder function in patients with facioscapulohumeral dystrophy. Level of Evidence: Therapeutic Level IV. See Instructions for Authors for a complete description of levels of evidence

Genetic diagnosis as a tool for personalized treatment of Duchenne muscular dystrophy

Accurate definition of genetic mutations causing Duchenne muscular dystrophy (DMD) has always been relevant in order to provide genetic counseling to patients and families, and helps to establish the prognosis in the case where the distinction between Duchenne, Becker, or intermediate muscular dystrophy is not obvious. As molecular treatments aimed at dystrophin restoration in DMD are increasingly available as commercialized drugs or within clinical trials, genetic diagnosis has become an indispensable tool in order to determine eligibility for these treatments. DMD patients in which multiplex ligation-dependent probe amplification (MLPA) or similar techniques show a deletion suitable to exon skipping of exons 44, 45, 51, or 53, may be currently treated with AONs targeting these exons, in the context of clinical trials, or, as is the case for exon 51 skipping in the United States, with the first commercialized drug (eteplirsen). Patients who test negative at MLPA, but in whom DMD gene sequencing shows a nonsense mutation, may be amenable for treatment with stop codon readthrough compounds such as ataluren. Novel molecular approaches such as CRISPR-Cas9 targeting of specific DMD mutations are still in the preclinical stages, but appear promising. In conclusion, an accurate genetic diagnosis represents the entrance into a new scenario of personalized medicine in DMD

Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR)

The Belgian Neuromuscular Disease Registry, commissioned in 2008, aims to collect data to improve knowledge on neuromuscular diseases and enhance quality health services for neuromuscular disease patients. This paper presents a clear outline of the strategy to launch a global national registry. All patients diagnosed with one of the predefined 62 neuromuscular disease groups and living in Belgium may be included in the yearly updated Registry. Basic core data is harvested through a newly designed web application by the six accredited neuromuscular reference centres. In 2010, 3,424 patients with a neuromuscular disorder were registered. The most prevalent disease group in the Registry is Hereditary Motor and Sensory Neuropathy, as similarly stated by other studies, albeit the prevalence in Belgium is five times lower: 6.5 per 100,000 in the north of Belgium, versus 17.0-41.0 per 100,000 in other areas of Europe. Very few patients were captured in the south of the country. With the aim to collect valuable epidemiological data, the registry targets to gather high quality data, that the sample to be representative of the population and that it be complete. The past 5 years of building the registry have improved its quality, albeit the consistent gap in data from the south of the country prevails, influencing the estimated prevalence of these diseases. To this day, the true burden of neuromuscular diseases in Belgium is not known but actions have been undertaken to address these issues

The effect of a seven-week exercise program on golf swing performance and musculoskeletal measures

As most golf exercise studies have shown improved golf performance as a result of two or three sessions per week, the present study investigated the effects of a supervised exercise session performed once a week for seven weeks on golf swing variables and musculoskeletal screening measures. Professional Golfers Association of Australia International Golf Institute student golfers (n ¼ 43) with a mean standard deviation handicap of 8.6 8.3 participated in the study. Each golfer performed 10 musculoskeletal tests and a standardised 60-shot golf performance test (TrackMan, Vedbaek, Denmark) on separate days before and after the seven-week program. Significant improvements in a number of musculoskeletal tests (i.e. left leg bridging (6.6%), thoracic extension (62.5%), right thoracic rotation (23.3%), and right (20.8%) and left single leg squat (29.1%)) were observed (all p 0.024); however, no significant differences were observed for any golf swing variables. Future research investigating different training protocols may help to determine whether the type or frequency of training has the greatest influence on golf swing performance

The relationship between various live animal scores/measurements and carcass classification for conformation and fatness with meat yield and distribution, and ultimate carcass value

End of project reportAccordingly, the primary objectives of the following study were to: (1) determine the relationship of live animal muscular and skeletal scores, ultrasonically scanned muscle and fat depth measurements of the m. longissimus dorsi, and carcass conformation and fat scores with kill-out proportion, carcass composition and value. (2) Specifically develop and test the accuracy of prediction equations for carcass meat, fat and bone proportions, derived from carcass conformation and fat scores, and develop prediction equations for total carcass composition from hind-quarter composition