Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B leading to the accumulation of dermatan sulfate. Birth prevalence is between 1 in 43,261 and 1 in 1,505,160 live births. The disorder shows a wide spectrum of symptoms from slowly to rapidly progressing forms. The characteristic skeletal dysplasia includes short stature, dysostosis multiplex and degenerative joint disease. Rapidly progressing forms may have onset from birth, elevated urinary glycosaminoglycans (generally >100 μg/mg creatinine), severe dysostosis multiplex, short stature, and death before the 2nd or 3rd decades. A more slowly progressing form has been described as having later onset, mildly elevated glycosaminoglycans (generally <100 μg/mg creatinine), mild dysostosis multiplex, with death in the 4th or 5th decades. Other clinical findings may include cardiac valve disease, reduced pulmonary function, hepatosplenomegaly, sinusitis, otitis media, hearing loss, sleep apnea, corneal clouding, carpal tunnel disease, and inguinal or umbilical hernia. Although intellectual deficit is generally absent in MPS VI, central nervous system findings may include cervical cord compression caused by cervical spinal instability, meningeal thickening and/or bony stenosis, communicating hydrocephalus, optic nerve atrophy and blindness. The disorder is transmitted in an autosomal recessive manner and is caused by mutations in the ARSB gene, located in chromosome 5 (5q13-5q14). Over 130 ARSB mutations have been reported, causing absent or reduced arylsulfatase B (N-acetylgalactosamine 4-sulfatase) activity and interrupted dermatan sulfate and chondroitin sulfate degradation. Diagnosis generally requires evidence of clinical phenotype, arylsulfatase B enzyme activity <10% of the lower limit of normal in cultured fibroblasts or isolated leukocytes, and demonstration of a normal activity of a different sulfatase enzyme (to exclude multiple sulfatase deficiency). The finding of elevated urinary dermatan sulfate with the absence of heparan sulfate is supportive. In addition to multiple sulfatase deficiency, the differential diagnosis should also include other forms of MPS (MPS I, II IVA, VII), sialidosis and mucolipidosis. Before enzyme replacement therapy (ERT) with galsulfase (Naglazyme®), clinical management was limited to supportive care and hematopoietic stem cell transplantation. Galsulfase is now widely available and is a specific therapy providing improved endurance with an acceptable safety profile. Prognosis is variable depending on the age of onset, rate of disease progression, age at initiation of ERT and on the quality of the medical care provided.
Future research should focus on decreasing the risk of injury to linemen.
Recent outbreaks of infectious diseases in athletes in competitive sports have stimulated considerable interest. The environments in which these athletes compete, practice, receive therapy for injuries, and travel, both domestically and internationally, provide varied opportunities for the transmission of infectious organisms. The purpose of this medical literature review is to identify the agents most commonly reported in the medical literature as responsible for infectious disease outbreaks in specific sports and their modes of transmission and to guide targeted prevention efforts. A literature review of English-language articles in medical publications that reported outbreaks of infectious diseases in competitive athletes was conducted in PubMed MEDLINE from 1966 through May 2005. Outbreaks that were solely food borne were excluded. Fifty-nine reports of infectious disease outbreaks in competitive sports were identified in the published medical literature. Herpes simplex virus infections appear to be common among wrestlers and rugby players, with no single strain responsible for the outbreaks. Methicillin-resistant Staphylococcus aureus was responsible for several recent outbreaks of soft tissue and skin infections among collegiate and professional athletes. The most common mode of transmission in outbreaks was direct, person-to-person (primarily skin-to-skin) contact. Blood-borne exposure was implicated in 2 confirmed outbreaks of hepatitis. Airborne and vector transmissions were rarely reported. This review provides an overview of infectious disease outbreaks thought to be either serious enough or unusual enough to report. Appropriate surveillance of the frequency of infections will allow sports medicine staff to identify outbreaks quickly and take necessary measures to contain further transmission and prevent future outbreaks.
Results suggest that physical characteristics play a minor role in risk of injury from football in this age group.
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