Assessment of a next generation sequencing gene panel strategy in 133 patients with negative thrombophilia screening.

Background: Although heritability of venous thromboembolism (VTE) is high, the thrombophilia screening appears to be positive only in a minority of VTE patients. Adding rare variants screening to identify VTE missing heritability still requires further assessment.

Objective: We report the results of a panel strategy after 3 years of application.

Calamities, the Subsequent School Closure, and Their Impact on Adolescents' Mental Health.

This article aims to understand the implications of calamities and the resulting school closures on the mental health of adolescents. The impact of calamities, such as natural disasters or pandemics, on school closures and adolescents' mental health is complex. It is crucial to provide the necessary support, resources, and interventions to help adolescents navigate these challenging times and minimize the long-term impact on their mental well-being.

Evaluating the implementation of the rapid prenatal exome sequencing (pES) service in England.

Introduction In October 2020, a national rapid prenatal exome sequencing (pES) service was rolled out across the English National Health Service (NHS). This service is delivered by multiple clinical and two laboratory teams. Whilst there was high level national guidance to support implementation, it was unclear how the service has been delivered in practice.

The Impact of the COVID-19 Pandemic: A Longitudinal Analysis of Body Weight Variations and Their Implications for Daily Habits.

Assessing changes in lifestyle, dietary habits, eating behaviors, and stress during the pandemic and their impact on weight is crucial for developing effective interventions. This study investigated weight variations among Brazilians and associated habit changes over nine months during the COVID-19 pandemic. An online questionnaire was applied (T0/T1, T2).