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Missense variants weakening a SOX9 phosphodegron linked to odontogenesis defects, scoliosis and other skeletal features.
HGG Adv
January 2025
Department of Surgery, Division of Orthopaedics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address:
SOX9 encodes an SRY-related transcription factor critical for chondrogenesis and sex determination among other processes. Loss-of-function variants cause campomelic dysplasia and Pierre Robin Sequence, while both gain- and loss-of-function variants cause disorders of sex development. SOX9 has also been linked to scoliosis and cancers, but variants are undetermined.
View Article and Find Full Text PDFThe Role of Modern Radiological Procedures in Diagnosing Blunt Liver Injuries Manifested by Upper Gastrointestinal Bleeding.
J Clin Med
December 2024
Ist Department of Radiology and Diagnostics Imaging, Faculty of Medicine, Medical University of Lodz, Narutowicza 60, 90-136 Lodz, Poland.
Posttraumatic upper gastrointestinal bleeding (UGIB) is a very rare consequence of blunt liver trauma. It can be quite a diagnostic challenge for clinicians, as it can clinically manifest many weeks after the trauma or be scantily symptomatic. The following article would like to provide an analysis of clinical cases of 13 patients following blunt liver injuries, the main symptoms of which was bleeding into the gastrointestinal tract through the biliary tree.
View Article and Find Full Text PDFMalignant Salivary Gland Tumors in a Tertiary University Hospital in Northern Spain.
J Clin Med
December 2024
Radiation Oncology Department, Osakidetza, Donostia University Hospital, 20014 San Sebastian, Spain.
(1) : Salivary gland tumors (SGTs) are a rare and diverse group of neoplasms arising in the parotid, submandibular, sublingual, and minor salivary glands distributed throughout the upper aerodigestive tract. Given the rarity and complexity of MSGTs, understanding their epidemiology across diverse populations is crucial for improving diagnostic and therapeutic strategies. (2) : A retrospective analysis involving 45 patients diagnosed with malignant salivary gland tumors and treated with curative intention between 1 July 2016 and 1 July 2021 in a tertiary academic hospital was performed.
View Article and Find Full Text PDFFasciolopsis buski infection of the biliary tract: a case report.
Diagn Pathol
January 2025
Department of Pathology, Affiliated Hospital of Zunyi Medical University, Zunyi City, Guizhou Province, P.R. China.
Background: Fasciolopsis buski is a large fluke that parasitises the human small intestine, with its infection in the biliary tract being even rarer. Given its relatively rare occurrence in recent years, the clinical diagnosis of F. buski infections can pose certain challenges.
View Article and Find Full Text PDFPosition statement and guidelines about Endoscopic Sleeve Gastroplasty (ESG) also known as "Endo-sleeve".
J Visc Surg
January 2025
Digestive Surgery, UFR Lyon Esthôpital Edouard-Herriot, hospices civils de Lyon, université Lyon 1, Lyon, France; Center spécialisé et intégré de l'obésité, Carmen Laboratory, Team 1, Inserm Unit, 1060 Lyon, France.
IS ESG EFFECTIVE IN THE TREATMENT OF OBESITY AND ASSOCIATEDCOMORBIDITIES?: Endoscopic Sleeve Gastroplasty (ESG) is more effective than lifestyle modifications alone for weight loss and improving obesity-related comorbidities. While it has less effect on weight loss compared to Laparoscopic Sleeve Gastrectomy (LSG) in the short to medium term, it offers similar comorbidities resolution to LSG. IS ESG A SAFE PROCEDURE, AND WHAT ARE ITS RISKS?: The safety profile of ESG is consistently supported in the literature.
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