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.

Relationship Between Radiation Therapy and Fecal Incontinence in Patients Treated for Localized Prostate Cancer: Results of the French ICONES Study.

Background: Radiation-induced late fecal incontinence (LFI) is one of the most quality-of-life impairing symptoms in prostate cancer. We aimed to assess the impact of radiotherapy (RT) technique and dose-volume effects on LFI using a robust score.

Methods: We identified 409 patients who underwent curative intent using standard fractionated radiation therapy, 190 of them were finally included and analyzed.

Hazelnut oral immunotherapy desensitizes hazelnut but not other tree nut allergies (Nut CRACKER Study).

Background: Data on oral immunotherapy (OIT) for hazelnut allergy is limited and its potential to cross-desensitize for other nuts is unknown.

Objective: To study the efficacy and safety of hazelnut OIT in desensitizing hazelnut and additional tree nuts.

Methods: A prospective observational study of 30 hazelnut allergic patients aged ≥4 years who underwent hazelnut OIT.

Repurposing Licensed Drugs with Activity Against Epstein-Barr Virus for Treatment of Multiple Sclerosis: A Systematic Approach.

Background: Epstein-Barr virus (EBV) is implicated as a necessary factor in the development of multiple sclerosis (MS) and may also be a driver of disease activity. Although it is not clear whether ongoing viral replication is the driver for MS pathology, MS researchers have considered the prospect of using drugs with potential efficacy against EBV in the treatment of MS. We have undertaken scientific and lived experience expert panel reviews to shortlist existing licensed therapies that could be used in later-stage clinical trials in MS.

Time-Critical Emergencies in Suburban Parks and Outdoor Recreation Spaces.

Objective Prior studies have described the patterns of emergency medical service (EMS) activations in national parks in the United States. However, little data exists regarding EMS activations in local and regional outdoor recreational locations. We performed a retrospective analysis of EMS activations originating from parks and recreational areas in suburban Howard County, Maryland, to characterize those activations determined to be time-critical emergencies.