Irish journal of medical science
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Maternally inherited non-syndromic hearing loss is linked with mitochondrial DNA mutations. ⋯ The m.14502 T > C mutation should be considered an inherited risk factor that can help diagnose. The data of this investigation help counsel families of individuals with hearing loss.
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The aim of this study was to retrospectively evaluate the effect of plasmapheresis treatment concomitant with chemotherapy and the number of sessions on renal improvement and survival in patients with newly diagnosed multiple myeloma (MM) presenting with acute kidney injury (AKI). ⋯ It was observed that plasmapheresis is beneficial in the short term for renal recovery in the treatment of MM with AKI and that > 3 plasmapheresis sessions have no superior effectiveness in renal improvement or survival.
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The most reliable magnetic resonance imaging (MRI) marker of cognitive dysfunction in multiple sclerosis (MS) is brain atrophy. However, 1-year volumetric changes prior to cognitive assessment were never studied as potential predictors of cognition, which we aim to assess with this pilot work. ⋯ Our work reveals novel 1-year regional brain volume changes as potential predictors of cognitive deficits in MS. This suggests a possible role of these regions in such deficits and might contribute to uncover cognitively deteriorating patients, whose detection is still unsatisfying in clinical practice.
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Glioblastoma(GBM) is the most common primary tumor of the central nervous system with an extremely dismal prognosis. Many progresses have been made such as the discovery of new molecular biomarkers and target drugs especially IDH inhibitors. However, GBM prognosis is still poor, which requires more biomarkers and drug targets for more precision classification and treatment. ⋯ PARP14, SAMD9, and SAMD9L are prognostic biomarkers of GBM predicting poor prognosis. PARP14 promotes GBM cell proliferation by inducing SAMD9 and SAMD9L expression. Our results indicate that PARP14/SAMD9/SAMD9L are prognostic biomarkers and potential drug targets of GBM.
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Extrapyramidal symptoms (EPS) can cause significant morbidity and impact negatively on patients' quality of life. Clinical guidelines provide recommendations regarding screening frequency and the use of structured tools to ensure adequate monitoring of EPS. Despite this, the literature indicates that the documentation and monitoring of EPS remain suboptimal. ⋯ Documentation of EPS monitoring improved significantly across several settings affiliated with a Dublin North City MHS following the systematic adoption of the Extrapyramidal Symptom Scale (EPSS) and clinician education regarding its use.