Early-Life Exposures and Odds of Adenomyosis: A Population-Based Case-Control Study.

Background: Adenomyosis can confer life-altering symptoms such as pelvic pain. Yet, the epidemiologic study of this uterine condition lags other gynaecologic conditions. This includes the investigation of intrauterine exposures that could disrupt foetal development and contribute to the presence of adenomyosis in adulthood.

Mode of Action of Psyllium in Reducing Gas Production from Inulin and its Interaction with Colonic Microbiota: A 24 hours, Randomised, Placebo-Controlled Trial in Healthy Human Volunteers.

Background: Recent studies show that the increase in breath hydrogen (BH) and symptoms after ingestion of inulin is reduced by co-administering psyllium.

Objectives: To determine if slowing delivery of inulin to the colon by administering it in divided doses would mimic the effect of psyllium. Primary endpoint was the BH area under the curve AUC.

HiCrayon reveals distinct layers of multi-state 3D chromatin organization.

Chromatin contact maps are often shown as 2D heatmaps and visually compared to 1D genomic data by simple juxtaposition. While common, this strategy is imprecise, placing the onus on the reader to align features with each other. To remedy this, we developed HiCrayon, an interactive tool that facilitates the integration of 3D chromatin organization maps and 1D datasets.

Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.

Background: MECP2 Duplication Syndrome, also known as X-linked intellectual developmental disorder Lubs type (MRXSL; MIM: 300260), is a neurodevelopmental disorder caused by copy number gains spanning MECP2. Despite varying genomic rearrangement structures, including duplications and triplications, and a wide range of duplication sizes, no clear correlation exists between DNA rearrangement and clinical features. We had previously demonstrated that up to 38% of MRXSL families are characterized by complex genomic rearrangements (CGRs) of intermediate complexity (2 ≤ copy number variant breakpoints < 5), yet the impact of these genomic structures on regulation of gene expression and phenotypic manifestations have not been investigated.