Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.

E3 ubiquitin ligases have been linked to developmental diseases including autism, Angelman syndrome (UBE3A), and Johanson-Blizzard syndrome (JBS) (UBR1). Here, we report variants in the E3 ligase UBR5 in 29 individuals presenting with a neurodevelopmental syndrome that includes developmental delay, autism, intellectual disability, epilepsy, movement disorders, and/or genital anomalies. Their phenotype is distinct from JBS due to the absence of exocrine pancreatic insufficiency and the presence of autism, epilepsy, and, in some probands, a movement disorder.

Bile acid-induced metabolic changes in the colon promote Enterobacteriaceae expansion and associate with dysbiosis in Crohn's disease.

Bile acids (BAs) affect the growth of potentially pathogenic commensals, including those from the Enterobacteriaceae family, which are frequently overrepresented in inflammatory bowel disease (IBD). BAs are normally reabsorbed in the ileum for recycling and are often increased in the colonic lumina of patients with IBD, including those with Crohn's disease (CD). Here, we investigated the influence of BAs on gut colonization by Enterobacteriaceae.

Experimental models of antibiotic exposure and atopic disease.

In addition to numerous clinical studies, research using experimental models have contributed extensive evidence to the link between antibiotic exposure and atopic disease. A number of mouse models of allergy have been developed and used to uncover the specific effects of various microbiota members and perturbations on allergy development. Studies in mice that lack microbes entirely have also demonstrated the various components of the immune system that require microbial exposure.

Caregiver restrictions on child access to tobacco in the home and home Smoking/Vaping bans among Black/African American women caregivers who smoke and live in Resource-limited, rural areas.

Objective: This study examined relationships between home smoking/vaping bans and caregiver restrictions on child access to tobacco in the home among rural, Black/African American caregivers who smoke.

Methods: Data were from the baseline survey of a randomized trial conducted in 2020-2022 among caregivers who smoke cigarettes and/or little cigars/cigarillos (N = 188). Logistic regressions examined associations between independent variables (tobacco product-specific and comprehensive home smoking/vaping bans) and dependent variables (caregiver keeps tobacco in the home; among caregivers with tobacco at home, caregiver restricts child tobacco access at home) Models were adjusted for caregiver tobacco use, income, and additional covariates based on stepwise selection.

Associations between prenatal exposure to environmental phenols and child neurodevelopment at two years of age in a South African birth cohort.

Objective: Evidence suggests that prenatal environmental phenol exposures negatively impact child neurodevelopment, however there is little research on the effects of mixtures of multiple phenol exposures. We analyzed associations between prenatal exposure to phenol mixtures and cognitive neurodevelopment at two years of age among 545 mother-child pairs from the South African Drakenstein Child Health Study.

Material And Methods: We measured maternal urine environmental phenol concentrations once during the second trimester of pregnancy.