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.

Correlation of Preoperative Hippocampal Volume Measured with Magnetic Resonance Imaging and Emergence from General Anaesthesia in Elective Neurosurgical Patients: An Observational Study.

Background And Objectives: The electrophysiological process of emergence from general anesthesia (GA) commences from deeper structures of the brain rather than the cortex. The phylogenetically old parts of the brain (hippocampus) are the first to recover during emergence. Study objectives were to evaluate and predict the effect of preoperative hippocampal volume (HV) measured using MRI with emergence from GA and delayed extubation in patients undergoing elective neurosurgical procedures.

Low expression promotes sensitivity to CHK1 inhibition in high-grade serous ovarian cancer.

High-grade serous ovarian cancer (HGSOC), the most lethal epithelial ovarian cancer subtype, faces persistent challenges despite advances in the therapeutic use of PARP inhibitors. Thus, innovative strategies are urgently needed to improve survival rates for this deadly disease. Checkpoint kinase 1 (CHK1) is pivotal in regulating cell survival during oncogene-induced replication stress (RS).