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Brain
December 2024
Department of Neurosurgery, Massachusetts General Hospital & Harvard Medical School, Boston, MA 02114, USA.
Congenital hydrocephalus (CH), characterized by cerebral ventriculomegaly (CV), is among the most common and least understood pediatric neurosurgical disorders. We have identified in the largest-assembled CV cohort (>2,697 parent-proband trios) an exome-wide significant enrichment of protein-altering de novo variants (DNVs) in LDB1 (p = 1.11 x 10-15).
View Article and Find Full Text PDFClin Cardiol
December 2024
Department of Cardiology, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University Medical Centre, Maastricht, The Netherlands.
Aim: A recent European Heart Rhythm Association (EHRA) practical guide provides guidance on the use of novel digital devices for heart rhythm analysis using either electrocardiogram (ECG) or photoplethysmography (PPG) technology for the diagnosis of atrial fibrillation (AF). This survey assesses physicians' preferences to use digital devices in patients with possible AF and their impact on clinical decision-making.
Methods And Results: Participants of the DAS-CAM III initiated and distributed an online survey assessing physician preferences in using digital devices for the management of AF in different clinical scenarios.
Allergol Select
November 2024
Department of Oto-Rhino-Laryngology. Head and Neck Surgery, Ulm University Medical Center, Ulm.
Background And Objectives: Patients with rare diseases like hereditary angioedema (HAE) are usually referred to an angioedema center to ensure guideline-compliant and experience-based therapy. Even though there are established guidelines and several approved therapeutics, there are still open questions and situations in the daily care of HAE patients, where an exchange between centers is needed.
Materials And Methods: A survey was conducted among physicians from German angioedema centers regarding challenges and issues in everyday HAE treatment.
Pericarditis as an inflammatory heart disease is rarely discussed in the cardiology community. The latest European guidelines on pericarditis were published in 2015, and Russian clinical guidelines are dated 2022. However, in recent years, a number of publications have appeared that have forced the scientific community to take a fresh look at this problem.
View Article and Find Full Text PDFPatient Educ Couns
January 2025
Faculty of Medicine & Health, The University of New South Wales, Sydney, Australia; Ingham Institute for Applied Medical Research, Liverpool, Australia; Crohn's Colitis Cure, Sydney, New South Wales, Australia; Department of Gastroenterology and Hepatology, Liverpool Hospital, Liverpool, Australia.
Objectives: This study explored the prevalence and degree of misalignment between gastroenterologists and people with inflammatory bowel disease (IBD) and investigated communication features related to misalignment.
Methods: A mixed-methods approach incorporated qualitative and quantitative analyses of consultations and post-consultation patient and doctor interviews. Gastroenterologists at two Australian teaching hospitals and IBD patients participated in this study.
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