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.

Fournier's Gangrene Severity Index and Charlson Comorbidity Index Predict Mortality, Intensive Care Unit Admission, and Length of Hospital Stay in Patients With Fournier's Gangrene: An Analysis of 264 Consecutive Patients.

Introduction Fournier's gangrene (FG) is a rapidly progressing necrotizing fasciitis. The Fournier's Gangrene Severity Index (FGSI), in conjunction with the Charlson Comorbidity Index (CCI), has been used as a mortality predictor during hospitalization. Patients with diabetes have also been shown to be at an increased risk for the development of FG.

Assessing the Use and Acceptability of Virtual Reality to Assist Coping in Children Undergoing Clinical Procedures.

Purpose: Virtual reality is used as a distraction tool during medical procedures that can cause anxiety and pain. We assessed the usefulness, engagement, value and feasibility of virtual reality to help children cope with routine clinical procedures.

Design And Methods: Quality improvement study.

Utilization of Partial Cytoreductive Nephrectomy in Patients with Metastatic Renal Cell Carcinoma.

Objectives: Cytoreductive nephrectomy for metastatic renal cell carcinoma (mRCC) is a standard of care. Partial nephrectomy (PN) in the setting of metastatic disease is an uncommon occurrence, and we aimed to characterize its utilization in a modern cohort.

Methods: The National Cancer Database was reviewed for patients with mRCC from 2010 to 2017.

The Development of a Chocolate-Based Chewable Tablet of Prednisolone-Enhancing the Palatability of Steroids for Pediatric Use.

Oral liquid prednisolone medications have poor acceptance among paediatric patients due to ineffective masking of the bitterness taste of prednisolone. This study aimed to develop a child-friendly prednisolone tablet using a patented chewable chocolate-based delivery system (CDS) previously applied successfully to mask the bitterness tastes of midazolam and tramadol. Prednisolone sodium phosphate (PSP) and prednisolone base (PB) CDS tablets were prepared, and the manufacturing process was optimised using a design of experiments (DoE) approach.