Background And Objectives: Neurosarcoidosis poses a diagnostic and management challenge due to its rarity, phenotypic variability, and lack of randomized controlled studies to guide treatment selection. Recommendations for management based on expert opinion are useful in clinical practice and provide a framework for designing prospective studies.
Methods: In this Delphi survey study, specialists with experience in managing patients with neurosarcoidosis were invited to anonymously complete 2 surveys about key elements of evaluation, diagnosis, treatment, monitoring, and long-term management of neurosarcoidosis.
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.
View Article and Find Full Text PDFBackground: 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.
J Allergy Clin Immunol Pract
January 2025
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.