Expanding the Genetic Etiology of Multiple Morphological Abnormalities of the Sperm Flagella: A Case Report of Two Novel DNAH1 Variants.

Background: The following case report details the genetic evaluation and treatment of a 30-year-old male with a history of asthenoteratospermia and notable abnormalities of the sperm flagella.

Methods: Genetic evaluation was performed via a multi-gene panel of genes associated with primary ciliary dyskinesia and multiple morphological abnormalities of the sperm flagella (MMAF) prior to the couple's in vitro fertilization (IVF) cycle.

Results: Genetic evaluation was performed via a multi-gene panel of genes associated with primary ciliary dyskinesia and multiple morphological abnormalities of the sperm flagella (MMAF) prior to the couple's in vitro fertilization (IVF) cycle.

A framework towards implementation of sequencing for antimicrobial-resistant and other health-care-associated pathogens.

Antimicrobial resistance continues to be a growing threat globally, specifically in health-care settings in which antimicrobial-resistant pathogens cause a substantial proportion of health-care-associated infections (HAIs). Next-generation sequencing (NGS) and the analysis of the data produced therein (ie, bioinformatics) represent an opportunity to enhance our capacity to address these threats. The 3rd Geneva Infection Prevention and Control Think Tank brought together experts to identify gaps, propose solutions, and set priorities for the use of NGS for HAIs and antimicrobial-resistant pathogens.

Brain Transcriptome Changes Associated With an Acute Increase of Protein O-GlcNAcylation and Implications for Neurodegenerative Disease.

Enhancing protein O-GlcNAcylation by pharmacological inhibition of the enzyme O-GlcNAcase (OGA) has been considered as a strategy to decrease tau and amyloid-beta phosphorylation, aggregation, and pathology in Alzheimer's disease (AD). There is still more to be learned about the impact of enhancing global protein O-GlcNAcylation, which is important for understanding the potential of using OGA inhibition to treat neurodegenerative diseases. In this study, we investigated the acute effect of pharmacologically increasing O-GlcNAc levels, using the OGA inhibitor Thiamet G (TG), in normal mouse brains.

International perspective on social cognition in schizophrenia: current stage and the next steps.

In the last decades, research from cognitive science, clinical psychology, psychiatry, and social neuroscience has provided mounting evidence that several social cognitive abilities are impaired in people with schizophrenia and contribute to functional difficulties and poor clinical outcomes. Social dysfunction is a hallmark of the illness, and yet, social cognition is seldom assessed in clinical practice or targeted for treatment. In this article, 17 international experts, from three different continents and six countries with expertise in social cognition and social neuroscience in schizophrenia, convened several meetings to provide clinicians with a summary of the most recent international research on social cognition evaluation and treatment in schizophrenia, and to lay out primary recommendations and procedures that can be integrated into their practice.

Quantity of Caloric Support After Pediatric Severe Traumatic Brain Injury: Description of Associated Outcomes in a Single Retrospective Center Cohort, 2010-2022.

Objectives: To examine the relationship between adequacy of caloric nutritional support during the first week after severe traumatic brain injury (TBI) and outcome.

Design: Single-center retrospective cohort, 2010-2022.

Setting: Tertiary care children's hospital with a level 1 trauma center.