Complex Genetic Framework in Familial Amyotrophic Lateral Sclerosis With a C9ORF72 Mutation: A Case Report.

A significantly diverse clinical presentation of amyotrophic lateral sclerosis (ALS), even in its best-studied familial form, continues to hinder current efforts to develop effective disease-modifying drugs for the cure of this rapidly progressive, fatal neuromuscular disease. We have previously shown that clinical heterogeneity of sporadic ALS (sALS) could be explained, at least in part, by its polygenic nature as well as by the presence of mutated genes linked to non-ALS neurological diseases and genes known to mediate ALS-related pathologies. We hypothesized that a similar genetic framework could also be present in patients with familial ALS (fALS).

BnaHSFA2, a heat shock transcription factor interacting with HSP70 and MPK11, enhances freezing tolerance in transgenic rapeseed.

Heat shock transcription factors (Hsfs) play important roles in plant developmental regulations and various abiotic stress responses. However, their evolutionary mechanism of freezing tolerance remains poorly understood. In our previous transcriptomics study based on DNA methylation sequencing, the BnaHsfA2 was found to be significantly accumulated in winter rapeseed (Brassica rapa L.

Work accidents registered in the Brazilian social security system between 2016 and 2020: a descriptive analysis.

Introduction: More than 500,000 work accidents were registered each year in Brazil from 2016 to 2018, representing more than BRL 300 million in expenditures.

Objectives: To analyze the prevalence of work accidents in Brazil between 2016 and 2020 according to geographic region, age group, and sex and analyze the prevalence according to the cause and economic activity type.

Methods: Descriptive, cross-sectional study based on data from the Social Security Statistics Yearbook.

Clinical Outcomes Associated with the Implementation of a Dedicated Clinical Pharmacy Service in a Resource-Limited Neurocritical Intensive Care Unit.

Patients in neurocritical care units are particularly vulnerable to medication errors and adverse drug events, necessitating specialized care and comprehensive pharmacological management. Despite this need, the scarcity of clinical pharmacist specialists in South Korean hospitals results in limited direct patient care within multidisciplinary teams. This study aimed to evaluate the impact of a dedicated pharmacy service program in the neurocritical care intensive care unit (neuro-ICU) on patient outcomes and to propose a clinical pharmacy service model tailored for resource-limited settings.