Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.

Pathogenic heterozygous variants in CHD4 cause Sifrim-Hitz-Weiss syndrome, a neurodevelopmental disorder associated with brain anomalies, heart defects, macrocephaly, hypogonadism, and additional features with variable expressivity. Most individuals have non-recurrent missense variants, complicating variant interpretation. A few were reported with truncating variants, and their role in disease is unclear.

Early Opioid Use and Postoperative Delirium Following Open Abdominal Aortic Aneurysm Repair.

Background: Postoperative delirium is a common complication following open abdominal aortic aneurysm repair (OAR). Opioids have been found to contribute to delirium, especially at higher doses. This study assessed the impact of early postoperative opioid analgesia on postoperative delirium incidence and time to onset.

In Hot Water: Current Thermal Threshold Methods Unlikely to Predict Invasive Species Shifts in NW Atlantic.

As global temperatures continue to rise, accurate predicted species distribution models will be important for forecasting the movement of range-shifting species. These predictions rely on measurements of organismal thermal tolerance, which can be measured using classical threshold concepts such as Arrhenius break temperatures and critical thermal temperatures, or through ecologically relevant measurements such as the temperature at which reproduction and growth occur. Many species, including invasive species, exhibit thermal plasticity, so these thresholds may change based on ambient temperature, life stage, and measurement techniques.

Longitudinal Analysis of Urban Stormwater Microbiome and Resistome from Watersheds with and without Green Infrastructure using Long-Read Sequencing.

Since stormwater conveys a variety of contaminants into water bodies, green infrastructure (GI) is increasingly being adopted as an on-site treatment solution in addition to controlling peak flows. The purpose of this study was to identify differences in microbial water quality of stormwater in watersheds retrofitted with GI vs. those without GI.