Validation and implementation of whole-genome sequencing-based analytical methods for molecular surveillance and relatedness analysis of complex isolates at a national reference laboratory.

Whole genome sequencing-based methodologies have become extremely relevant for the molecular surveillance of human pathogens and are being increasingly introduced into national reference laboratory services. In this study, we describe the validation and implementation of core-genome Multi-Locus Sequence Typing (cgMLST) and whole genome single-nucleotide polymorphism (wgSNP) analysis at the Irish Mycobacteria Reference Laboratory, as a replacement for Mycobacterial Interspersed Repetitive Unit-Variable Number Tandem Repeat (MIRU-VNTR) typing. Concordance of clustering, discriminatory power, and ease-of-use of both WGS analytical methods were evaluated.

Clinical and Demographic Factors Linked to Low-Value Emergency Department Visits in Pediatric Patients With Spina Bifida.

Purpose: Identifying factors associated with emergency visits that could be delivered at lower cost sites may help guide population health strategies for pediatric patients with spina bifida.

Materials And Methods: Emergency department encounters (2016-2023) by patients with spina bifida (younger than 18 years) in the Pediatric Health Information System were identified. Absence of clinical and imaging charges was defined as low-value emergency visit.

Emerging Adults Mirror Infants' Emotions and Yawns.

Infants' nonverbal expressions-a broad smile or a sharp cry-are powerful at eliciting reactions. Although parents' reactions to their own infants' expressions are relatively well understood, here we studied whether adults more generally exhibit behavioral and physiological reactions to unfamiliar infants producing various expressions. We recruited U.

Two Novel Variants in in a Family Presenting With Hereditary Spastic Paraparesis: A Case Report.

Objectives: To report novel biallelic variants in a family presenting with pure hereditary spastic paraparesis.

Methods: Two affected sisters presented with unsolved hereditary spastic paraparesis and underwent clinical and imaging assessments. This was followed by short-read next-generation sequencing.

Data challenges for international health emergencies: lessons learned from ten international COVID-19 driver projects.

The COVID-19 pandemic highlighted the importance of international data sharing and access to improve health outcomes for all. The International COVID-19 Data Alliance (ICODA) programme enabled 12 exemplar or driver projects to use existing health-related data to address major research questions relating to the pandemic, and developed data science approaches that helped each research team to overcome challenges, accelerate the data research cycle, and produce rapid insights and outputs. These approaches also sought to address inequity in data access and use, test approaches to ethical health data use, and make summary datasets and outputs accessible to a wider group of researchers.