Intestinal icrobiota Transplant Prior to llogeneic tem Cell ransplant (MAST) trial: study protocol for a multicentre, double-blinded, placebo-controlled, phase IIa trial.

Introduction: Lower diversity of the gut microbiome prior to allogeneic haematopoietic cell transplantation (HCT) correlates with reduced survival after the intervention. Most patients undergoing HCT for a haematological malignancy have previously received intensive chemotherapy, resulting in prolonged neutropenic episodes requiring broad-spectrum antibiotics; use of these has been linked to reduced microbiome diversity. Intestinal microbiota transplant (IMT) is a novel treatment approach that restores this diversity.

De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder.

Volume-regulated anion channels (VRACs) are multimeric proteins composed of different paralogs of the LRRC8 family. They are activated in response to hypotonic swelling, but little is known about their specific functions. We studied two human individuals with the same congenital syndrome affecting blood vessels, brain, eyes, and bones.

Experiences of violence while in insecure migration status: a qualitative evidence synthesis.

Background: The global movement of people in the context of strict immigration laws and policies places significant numbers of people in insecure migration status worldwide. Insecure status leaves people without recourse to legal, governmental or social protection from violence and abuse. This review synthesized qualitative studies that reported how migrants associated physical and physically enforced sexual violence they experienced with their insecure migration status.

Loss of DOT1L function disrupts neuronal transcription, animal behavior, and leads to a novel neurodevelopmental disorder.

Individuals with monoallelic pathogenic variants in the histone lysine methyltransferase DOT1L display global developmental delay and varying congenital anomalies. However, the impact of monoallelic loss of remains unclear. Here, we present a largely female cohort of 11 individuals with variants with developmental delays and dysmorphic facial features.

Brain malformations and seizures by impaired chaperonin function of TRiC.

Malformations of the brain are common and vary in severity, from negligible to potentially fatal. Their causes have not been fully elucidated. Here, we report pathogenic variants in the core protein-folding machinery TRiC/CCT in individuals with brain malformations, intellectual disability, and seizures.