Dysregulation of the actin cytoskeleton and FMRP causes polar body protrusion defects in human fragile X premutation and aged oocytes.

Women carrying the fragile X premutation (55-200 CGG repeat expansion, PM) are at risk for developing fragile X-associated primary ovarian insufficiency (FXPOI), which is preceded by fragile X-associated diminished ovarian reserve (FXDOR). So far, the cause of FXDOR/FXPOI could not be comprehensively examined due to the scarcity of human ovarian tissue and oocytes. From studies in model systems, it was proposed that molecular abnormalities within the ovaries or a diminished primordial follicle pool cause FXDOR/FXPOI.

Testing the feasibility of a digital storytelling intervention combined with heart rate variability biofeedback in hematopoietic cell transplant patients.

This pilot 2-week, randomized controlled trial examined integrating digital storytelling (DST) with heart rate variability biofeedback (HRVB) to enhance psycho-emotional well-being of hematopoietic cell transplantation (HCT) patients. HCT patients ( = 25; = 51.9 years) were randomly assigned: (1) DST + HRVB intervention, or (2) DST-only control.

Evaluation of Electronic Palliative Care Coordination Systems to support advance care planning for people living with life-threatening conditions (PREPARE): protocol for a multicentre observational study using routinely collected primary and secondary care data in England.

Introduction: Electronic Palliative Care Coordination Systems (EPaCCS) are electronic registers that aim to facilitate documentation and sharing of up-to-date information about patients' end-of-life preferences and plans for care among different health services. They aim to improve patients' experiences and outcomes and mitigate costs linked to undesired aggressive care. However, evidence on the equitable delivery of EPaCCS and the extent to which advance care planning (ACP) enhances end-of-life care remains sparse.

Sex Differences in the Relationship Between Cortical Thickness and Sensory Motor Symptoms in Adults on the Autism Spectrum.

Autism spectrum disorder (ASD) involves alterations in both cortical morphology and sensory processing. These structural and perceptual changes may lie on a continuum with typically developing (TD) individuals. However, investigations on possible links between these two factors are lacking, and it remains to be seen if their relationship differs by sex.

eNODAL: an experimentally guided nutriomics data clustering method to unravel complex drug-diet interactions.

Unraveling the complex interplay between nutrients and drugs via their effects on "omics" features could revolutionize our fundamental understanding of nutritional physiology, personalized nutrition, and, ultimately, human health span. Experimental studies in nutrition are starting to use large-scale "omics" experiments to pick apart the effects of such interacting factors. However, the high dimensionality of the omics features, coupled with complex fully factorial experimental designs, poses a challenge to the analysis.