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- Hashemi, Esmatossadat, et al.
(författare)
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Population-based epidemiology of non-fatal injuries in Tehran, Iran
- 2018
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Ingår i: Health Promotion Perspectives. - : Maad Rayan Publishing Company. - 2228-6497. ; 8:2, s. 127-132
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Tidskriftsartikel (refereegranskat)abstract
- Background: Our aim in this survey was to explore descriptive epidemiology of injuries in Tehran in 2012 and to report the recalled estimates of injury incidence rates.Methods: A population survey was conducted in Tehran during 2012, within which a total of 8626 participants were enrolled. The cluster sampling was used to draw samples in 100 clusters with a pre-specified cluster size of 25 households per cluster. Data were collected on demographic features, accident and injury characteristics based on the International Classification of Diseases (ICD10).Results: A total of 618 injuries per 3 months were reported, within which 597 cases (96.6%)were unintentional injuries. More than 82% of all injuries were those caused by exposure to inanimate mechanical forces, traffic accidents, falls and burns. Above 80% of the traffic injuries happened among men (P<0.001). About 43% of the unintentional injuries were mild injuries.After the age of 40, women, unlike men, had higher risks for being injured. The estimated annual incidence rate for all types of injuries was 284.8 per 1000 (95% CI: 275.4-294.4) and for unintentional injuries was 275.2 per 1000.Conclusion: Injuries are major health problems in Tehran with a highly reported incidence. The status is not substantially improved over the recent years which urges the need to be adequately and emergently addressed. As the incidence rate was estimated based on participant recalls, the real incidence rate may even be higher than those reported in the current study.
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| 2. |
- Nilipour, Yalda, et al.
(författare)
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Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies
- 2018
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Ingår i: European Journal of Neurology. - : Blackwell Publishing. - 1351-5101 .- 1468-1331. ; 25:6, s. 841-847
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Tidskriftsartikel (refereegranskat)abstract
- Background: Nemaline myopathy has been associated with mutations in twelve genes to date. However, for some patients diagnosed with nemaline myopathy, definitive mutations are not identified in the known genes, suggesting there are other genes involved. This study describes compound heterozygosity for rare variants in RYR3 in one such patient.Results: Clinical examination of the patient at 22 years of age revealed a long-narrow face, high arched palate and bilateral facial weakness. She had proximal weakness in all four limbs, mild scapular winging but no scoliosis. Muscle biopsy revealed wide variation in fibre size with type 1 fibre predominance and atrophy. Abundant nemaline bodies were located in perinuclear areas, subsarcolemmal and within the cytoplasm. No likely pathogenic mutations in known nemaline myopathy genes were identified. Copy number variation in known nemaline myopathy genes was excluded by nemaline myopathy targeted array-CGH. Next generation sequencing revealed compound heterozygous missense variants in the ryanodine receptor type 3 gene (RYR3). RYR3 transcripts are expressed in human fetal and adult skeletal muscle as well as in human brain or cauda equina samples. Immunofluorescence of human skeletal muscle revealed a "single-row" appearance of RYR3, interspaced between the "double-rows" of RYR1 at each A-I junction.Conclusion: The results suggest that variants in RYR3 may cause a recessive muscle disease with pathological features including nemaline bodies. We characterize the expression pattern of RYR3 in human skeletal muscle and brain and the subcellular localization of RYR1 and RYR3 in human skeletal muscle.
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