24 research outputs found

    Mitochondrial DNA deletions in muscle fibers in inclusion body myositis

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    Inclusion body myositis (IBM) is an autoimmune, inflammatory myopathy where morphological changes of muscle, including ragged red fibers, have indicated mitochondrial dysfunction in some muscle fibers. In this study enzyme histochemical analysis showed that cytochrome c oxidase (COX)-deficient muscle fibers were present at a frequency ranging from 0.5 to 5% of the muscle fibers in a series of 20 IBM patients. In age-matched controls, only occasional COX-deficient muscle fibers were present. Polymerase chain reaction (PCR) analysis of DNA extracted from muscle tissue of the IBM patients showed multiple mtDNA deletions. PCR analysis of isolated, single muscle fibers showed presence of mtDNA with only one type of deletion and deficiency of wild-type mtDNA in each COX-deficient muscle fiber. This finding was supported by results from in situ hybridization using different mtDNA probes on consecutive sections. A 5 kb deletion was identified in all 20 IBM patients. DNA sequencing of the breakpoint region showed that this deletion was the so-called "common deletion." Most but not all of the investigated deletion breakpoints were flanked by direct repeats. COX-deficient fibers were more frequent among fibers with positive immunostaining with antibodies directed toward a regeneration marker, the Leu-19 antigen, than in the entire fiber population. These results show that COX deficiency in muscle fiber segments in IBM is associated with deletions of mtDNA. Clonal expansion of mtDNA with deletions may take place in regenerating muscle fibers following segmental necrosis

    "It's Like Piecing Together Small Pieces of a Puzzle". Difficulties in Reporting Abuse and Neglect of Disabled Children to the Social Services

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    According to Swedish law, the Child and Youth Habilitation Services are obliged to report abuse and neglect of disabled children to the Social Services. Only a small proportion of all children who are suspected of being victims of abuse or neglect are however reported to the Social Services. The aim of this study is to discuss why some cases of abuse and neglect of disabled children are considered difficult to report by the Child and Youth Habilitation Services. The qualitative data were collected during individual and natural group interviews with fourteen members of the staff of a regional division of this authority. The study shows that reporting was seen as a “last resort”, and was used only when all other remedies had been exhausted. The main obstacles to reporting were to be found in the perceived closeness between staff members and the disabled children’s families. Other obstacles to reporting were habilitation ideals, cultural ideas about the family, a lack of evidence of abuse and neglect, and uncertainty about the children’s future after reporting. Factors that facilitated reporting were visible proof of abuse and neglect, and the disabled children’s ability to communicate. Furthermore, certain criminal acts against the children were seen as more reprehensible than others and thus easier to report
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