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- Ávila-Polo, R., et al.
(författare)
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Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies
- 2018
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Ingår i: Journal of Neuropathology and Experimental Neurology. - : Oxford University Press (OUP). - 1554-6578 .- 0022-3069. ; 77:12, s. 1101-1114
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Tidskriftsartikel (refereegranskat)abstract
- Titin-related myopathies are heterogeneous clinical conditions associated with mutations in TTN. To define their histopathologic boundaries and try to overcome the difficulty in assessing the pathogenic role of TTN variants, we performed a thorough morphological skeletal muscle analysis including light and electron microscopy in 23 patients with different clinical phenotypes presenting pathogenic autosomal dominant or autosomal recessive (AR) mutations located in different TTN domains. We identified a consistent pattern characterized by diverse defects in oxidative staining with prominent nuclear internalization in congenital phenotypes (AR-CM) (n=10), ±necrotic/regenerative fibers, associated with endomysial fibrosis and rimmed vacuoles (RVs) in AR early-onset Emery-Dreifuss-like (AR-ED) (n=4) and AR adult-onset distal myopathies (n=4), and cytoplasmic bodies (CBs) as predominant finding in hereditary myopathy with early respiratory failure (HMERF) patients (n=5). Ultrastructurally, the most significant abnormalities, particularly in AR-CM, were multiple narrow core lesions and/or clear small areas of disorganizations affecting one or a few sarcomeres with M-band and sometimes A-band disruption and loss of thick filaments. CBs were noted in some AR-CM and associated with RVs in HMERF and some AR-ED cases. As a whole, we described recognizable histopathological patterns and structural alterations that could point toward considering the pathogenicity of TTN mutations.
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| 4. |
- Dybeck Udd, S, et al.
(författare)
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Oral Syphilis: A Reemerging Infection Prompting Clinicians' Alertness
- 2016
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Ingår i: Case reports in dentistry. - : Hindawi Limited. - 2090-6447 .- 2090-6455. ; 2016, s. 6295920-
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Tidskriftsartikel (refereegranskat)abstract
- Syphilis is a rare but increasing disease. Due to changing sexual habits, presentation of oral manifestations may rise. Since syphilis may mimic other oral manifestations, diagnoses can be difficult. Clinicians need to be aware that ambiguous oral manifestations may in fact be caused by oral syphilis. Here, we present a case of extended diagnostic delay highlighting the importance of consulting an expert in infectious diseases in case of obscure oral lesions not responding to standard treatment. Despite seven visits to six different medical doctors, a patient who presented with oral syphilis was continuously misdiagnosed. After 6 months of increasing complaints and deteriorating severity of disease, the patient was referred to an oral and maxillofacial surgeon where the correct diagnosis was determined and proper treatment initiated.
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| 5. |
- Olive, M, et al.
(författare)
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Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions
- 2019
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 1396-
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Tidskriftsartikel (refereegranskat)abstract
- Myoglobin, encoded by MB, is a small cytoplasmic globular hemoprotein highly expressed in cardiac myocytes and oxidative skeletal myofibers. Myoglobin binds O2, facilitates its intracellular transport and serves as a controller of nitric oxide and reactive oxygen species. Here, we identify a recurrent c.292C>T (p.His98Tyr) substitution in MB in fourteen members of six European families suffering from an autosomal dominant progressive myopathy with highly characteristic sarcoplasmic inclusions in skeletal and cardiac muscle. Myoglobinopathy manifests in adulthood with proximal and axial weakness that progresses to involve distal muscles and causes respiratory and cardiac failure. Biochemical characterization reveals that the mutant myoglobin has altered O2 binding, exhibits a faster heme dissociation rate and has a lower reduction potential compared to wild-type myoglobin. Preliminary studies show that mutant myoglobin may result in elevated superoxide levels at the cellular level. These data define a recognizable muscle disease associated with MB mutation.
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