Waardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome. The diagnosis was made after detection and treatment of deafness.
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http://dx.doi.org/10.1590/abd1806-4841.20153343 | DOI Listing |
Ann Plast Surg
January 2025
Hospital Clínico San Carlos, Instituto de Investigación Sanitaria San Carlos, Universidad Complutense de Madrid, Madrid, Spain.
Introduction: Carpal tunnel syndrome (CTS) is the most common peripheral nerve entrapment disease, and it is a subject of great interest and concern to medical professionals and the general public. Our study aims to analyze and compare the quality and accuracy of the information related to CTS provided by social media platforms (SMPs) and the new large language models (LLM).
Methods: On YouTube, the first 20 videos in English and the first 20 videos in Spanish when searching for "carpal tunnel syndrome" and "síndrome túnel carpo" were selected.
J Neurochem
January 2025
Centre for Prions and Protein Folding Diseases, University of Alberta, Edmonton, Canada.
Highly abundant in neurons, the cellular prion protein (PrP) is an obligatory precursor to the disease-associated misfolded isoform denoted PrP that accumulates in the rare neurodegenerative disorders referred to either as transmissible spongiform encephalopathies (TSEs) or as prion diseases. The ability of PrP to serve as a substrate for this template-mediated conversion process depends on several criteria but importantly includes the presence or absence of certain endoproteolytic events performed at the cell surface or in acidic endolysosomal compartments. The major endoproteolytic events affecting PrP are referred to as α- and β-cleavages, and in this review we outline the sites within PrP at which the cleavages occur, the mechanisms potentially responsible and their relevance to pathology.
View Article and Find Full Text PDFJMIR Pediatr Parent
January 2025
Department of Primary- and Long-term Care, University Medical Center Groningen, University of Groningen, 9700 AD, Oostersingel, Groningen, PO-box 196, Netherlands, 31 653445206.
Background: Management of children with functional abdominal pain (FAP) or irritable bowel syndrome (IBS) is difficult in primary care. When education and reassurance do not alleviate symptoms, primary care physicians lack treatment options for children with FAP or IBS. Home-based guided hypnotherapy is a promising treatment because of its accessibility.
View Article and Find Full Text PDFWorld J Gastrointest Surg
January 2025
Department of Surgery, Gastroenterology and Digestive Endoscopy Unit, ASST Santi Paolo e Carlo, University of Milan, Milan 20142, Lombardy, Italy.
Trans-jugular intrahepatic portosystemic stent shunting (TIPSS) has been in use for many years with great results and many evolutions. The procedure essentially involves the insertion of a metal covert stent to create an Hepato-Hepatic portosystemic shunt. Over time, TIPSS has become the subject of many studies aimed at examining its clinical utility and evaluating the results of using TIPSS to manage complications related to portal hypertension.
View Article and Find Full Text PDFFront Psychiatry
January 2025
Ethics in Medicine, Carl von Ossietzky Universität Oldenburg, Oldenburg, Germany.
Introduction: The concept of privacy marks an astonishing gap in the discussion about care for people with dementia (PwD). In general, questions of privacy play an important role and attract much attention in the ethics of nursing care. Yet, when it comes to dementia care, there is hardly any systematic ethical debate on the topic at all.
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