Cases reported "Muscular Diseases"

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1/6. Fetal akinesia deformation sequence: behavioral development in a case of congenital myopathy.

    OBJECTIVE: To monitor behavioral development in a fetus affected by the Pena-Shokeir phenotype due to fetal akinesia deformation sequence of myogenic origin. methods: Fetal behavioral development was studied sonographically in a fetus suspected of having fetal akinesia deformation sequence, between 15 and 35 weeks of gestation at 1-4-week intervals. RESULTS: Fetal body movements were quantitatively and qualitatively abnormal from 28 weeks onwards. Behavioral deterioration coincided with the observation of structural anomalies such as club feet. fetal heart rate and its variation remained within normal limits and showed normal ultradian cyclicity, but the temporal linkage between body movements and heart rate pattern worsened with advancing gestation. Breathing movements, although present until the end of pregnancy, became increasingly shallow. CONCLUSION: Our results provide sound evidence that the trajectory of behavioral development with fetal akinesia deformation sequence, which has been hypothesized to occur in man exclusively on the basis of retrospective analyses and animal experiments, does indeed take place.
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2/6. Chronic human colchicine neuropathy and myopathy.

    A 43-year-old woman who indiscriminately took colchicine for five years developed a progressive multisystem syndrome that included severe axonal neuropathy and a pathologically striking myopathy. The neuropathy and myopathy were similar to experimental animal colchicine-induced neuromuscular toxicity.
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3/6. Posttetanic potentiation in a patient with myasthenia gravis.

    We studied a patient with clinically typical myasthenia gravis (MG) and high serum titer of antibodies to acetylcholine receptor. Unlike the usual response in MG, there was an increment in the amplitude of the electrical response (308% of control) after 10 seconds of voluntary tetanus. Posttetanic facilitation is usually less than 200% in MG and over 200% in Eaton-Lambert syndrome. However, there have been several other cases of typical MG with increments over 200%. Facilitation of this magnitude has also been seen with curare administration in animals and man. However, in myasthenia, as opposed to curare poisoning, competitive blocking is not thought to exist.
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4/6. Bacterial adherence and the glycocalyx and their role in musculoskeletal infection.

    bacteria produce a virulence-related polysaccharide exocellular slime (the glycocalyx), which preferentially adheres to the surfaces of biomaterials and compromised tissues. This biofilm resists antibiotic penetration and provides a degree of protection from antibodies and macrophages. Similar adhesive cell-to-substrate phenomena have been noted in natural environments and in bacterial-animal cell disease states. The adherent glycocalyx is one of the fundamental reasons for increased susceptibility to infection in the presence of biomaterials and compromised tissues and a significant factor in the persistence of such infection until the removal of the prosthetic device.
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5/6. Muscle granulomas following intramuscular injection.

    An 8-month-old child underwent a muscle biopsy because of hypotonia. The biopsy showed centronuclear myopathy and, in addition, an unusual granulomatous inflammatory infiltrate. The child died of respiratory complications and a complete autopsy failed to reveal further evidence of granulomatous disease. The lesion was reproduced in experimental animals by intramuscular injection of diphtheria and tetanus toxoids and pertussis vaccine. Granular material present in histiocytes in these lesions was shown histochemically to be an aluminum salt.
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6/6. Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit.

    Heritable phosphorylase kinase (Phk) deficiency is responsible for several forms of glycogen storage disease in humans and animals that differ in mode of inheritance and tissue-specificity. Mutations affecting different subunits and isoforms of Phk are expected to contribute to this heterogeneity. In the present study, we have investigated a case of muscle-specific, adult-onset Phk deficiency. The coding sequences of three candidate genes were analyzed by RT-PCR and sequencing: the muscle isoform of the alpha subunit (alpha M), a muscle-specifically expressed exon of the beta subunit, and the muscle isoform of the gamma subunit. Whereas the latter two sequences were found to be normal, we identified a nonsense mutation in alpha M. The condition of this patient therefore is a human homolog of the X-linked muscle Phk deficiency of I-strain mice. To our knowledge, this is the first description of a human Phk deficiency mutation.
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