Articles: cations.
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Individuals can be deemed to have radiologically isolated syndrome (RIS) if they have incidental demyelinating-appearing lesions in their brain or spinal cord that are highly suggestive of multiple sclerosis but their clinical history does not include symptoms consistent with multiple sclerosis. Data from international longitudinal cohorts indicate that around half of people with RIS will develop relapsing or progressive symptoms of multiple sclerosis within 10 years, suggesting that in some individuals, RIS is a presymptomatic stage of multiple sclerosis. ⋯ Two 2-year randomised clinical trials showed the efficacy of approved multiple sclerosis immunomodulatory medications in preventing the clinical conversion to multiple sclerosis in some individuals with RIS. If substantiated in longer-term studies, these data have the potential to transform our approach to care for the people with RIS who are at the greatest risk of diagnosis with multiple sclerosis.
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Hereditary transthyretin (TTR) amyloid polyneuropathy is an autosomal dominant life-threatening disorder. TTR is produced mainly by the liver but also by the choroid plexus and retinal pigment epithelium. Detailed clinical characterisation, identification of clinical red flags for misdiagnosis, and use of biomarkers enable early diagnosis and treatment. ⋯ As none of the disease-modifying therapies can cross the blood-brain barrier, TTR deposition in the CNS, which can cause stroke and cognitive impairment, remains an important unaddressed issue. CRISPR-Cas9-based one-time TTR editing therapy is being investigated in a phase 1 clinical study. Identification of the earliest stages of pathogenesis in TTR variant carriers is a major challenge that needs addressing for optimal management.
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An understanding of the genetic mechanisms underlying diseases in ancestrally diverse populations is an important step towards development of targeted treatments. Research in African and African admixed populations can enable mapping of complex traits, because of their genetic diversity, extensive population substructure, and distinct linkage disequilibrium patterns. We aimed to do a comprehensive genome-wide assessment in African and African admixed individuals to better understand the genetic architecture of Parkinson's disease in these underserved populations. ⋯ The Global Parkinson's Genetics Program, which is funded by the Aligning Science Across Parkinson's initiative, and The Michael J Fox Foundation for Parkinson's Research.
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Critical care medicine · Nov 2023
Randomized Controlled TrialSodium Bicarbonate for Metabolic Acidosis in the ICU: Results of a Pilot Randomized Double-Blind Clinical Trial.
To identify the best population, design of the intervention, and to assess between-group biochemical separation, in preparation for a future phase III trial. ⋯ The findings confirm the feasibility of a larger phase III sodium bicarbonate trial; eligibility criteria may require modification to facilitate recruitment.
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Minerva anestesiologica · Nov 2023
Observational StudyUltrasound predictors of difficult spinal anesthesia: a prospective single-blind observational study.
Ultrasound showed to improve the precision and efficacy of spinal anesthesia (SA) through the identification of specific structures surrounding the intrathecal space, such as the anterior and posterior complex of dura mater (DM). The aim of this study was to verify the efficacy of ultrasonography in predicting difficult SA trough the analysis of different ultrasound patterns. ⋯ Ultrasound showed a high accuracy in detecting difficult spinal anesthesia and its use should be recommended in the daily clinical practice in order to increase success rate and minimize patient discomfort. The absence of both DM complexes at ultrasound should lead the anesthetist to evaluate other intervertebral levels or consider alternative techniques.