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.

Development of chitosan-based films with invertase enzyme for active packaging: Physicochemical parameters, structure, application, and storage.

The use of active packaging made from biodegradable polymers can contribute to the environment and to the food industry by increasing the shelf life of their products. This study aimed to produce chitosan-based films incorporated with the invertase enzyme (1, 2, 5, 9, and 10 %) as an alternative to avoid sucrose crystallization in the confectionery industry. The optimum activity of the invertase enzyme was observed at 55 °C and pH 5, thus, the films made with the film-forming solution adjusted to pH 5 and dried at 55 °C were compared with those without pH adjustment and dried at room temperature.

Human fallopian tube organoids provide a favourable environment for sperm motility.

Study Question: Does a human fallopian tube (HFT) organoid model offer a favourable apical environment for human sperm survival and motility?

Summary Answer: After differentiation, the apical compartment of a new HFT organoid model provides a favourable environment for sperm motility, which is better than commercial media.

What Is Known Already: HFTs are the site of major events that are crucial for achieving an ongoing pregnancy, such as gamete survival and competence, fertilization steps, and preimplantation embryo development. In order to better understand the tubal physiology and tubal factors involved in these reproductive functions, and to improve still suboptimal in vitro conditions for gamete preparation and embryo culture during IVF, we sought to develop an HFT organoid model from isolated adult stem cells to allow spermatozoa co-culture in the apical compartment.

Impact of ERAS Protocol with Multimodal Anesthesia on Perioperative Outcomes after Open AAA Repair.

Objective: Enhanced Recovery After Surgery (ERAS) clinical pathways have demonstrated improved perioperative outcomes after major surgery. However, its adoption within vascular surgery has been limited. In this study, we examined the impact of an ERAS protocol with multimodal anesthesia on open abdominal aortic aneurysm (AAA) repair by comparing early outcomes before and after its implementation.