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Gastrointestinal complications of hepatic glycogen storage disease: a national survey questionnaire study in China.
Orphanet J Rare Dis
January 2025
Department of Pediatrics, Guangdong Provincial People's Hospital, The Second School of Clinical Medicine, Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, 510080, China.
Background: Hepatic glycogen storage diseases (GSD) are inborn errors of metabolism with abnormal storage or utilization of glycogen, a complex disease with significant genetic heterogeneity and similar clinical manifestations. This study aimed to describe the gastrointestinal symptoms and endoscopic features of hepatic GSD, including types Ia, Ib, III, VI, and IX, to provide evidence for etiology and treatment.
Methods: A national cohort survey questionnaire was distributed to patients diagnosed with GSD type Ia, Ib, III, VI, and IX through genetic testing or their parents in mainland China in May 2022.
Effect of early administration of fibrinogen replacement therapy in traumatic haemorrhage: a systematic review and meta-analysis of randomised controlled trials with narrative synthesis of observational studies.
Crit Care
January 2025
Centre for Trauma Sciences, Blizard Institute, Queen Mary University of London, London, England.
Background: In severely injured trauma patients, hypofibrinoginaemia is associated with increased mortality. There is no evidence-based consensus for what constitutes optimal fibrinogen therapy, treatment dose or timing of administration. The aim of this systematic review was to evaluate the effects of early fibrinogen replacement, either cryoprecipitate or fibrinogen concentrate (FgC) on mortality, transfusion requirements and deep venous thrombosis (DVT).
View Article and Find Full Text PDFEstablishing a preoperative predictive model for gallbladder adenoma and cholesterol polyps based on machine learning: a multicentre retrospective study.
World J Surg Oncol
January 2025
Department of Hepatobiliary and Pancreas, Affiliated Hospital of Qingdao University, NO.1677 Wutaishan Road, Qingdao, Shandong Province, 266555, China.
Background: With the rising diagnostic rate of gallbladder polypoid lesions (GPLs), differentiating benign cholesterol polyps from gallbladder adenomas with a higher preoperative malignancy risk is crucial. This study aimed to establish a preoperative prediction model capable of accurately distinguishing between gallbladder adenomas and cholesterol polyps using machine learning algorithms.
Materials And Methods: We retrospectively analysed the patients' clinical baseline data, serological indicators, and ultrasound imaging data.
Predictive role of SLC1A5 in neuroblastoma prognosis and immunotherapy.
BMC Cancer
January 2025
Department of Pediatric Surgery, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Background: Neuroblastoma, a prevalent extracranial solid tumor in pediatric patients, demonstrates significant clinical heterogeneity, ranging from spontaneous regression to aggressive metastatic disease. Despite advances in treatment, high-risk neuroblastoma remains associated with poor survival. SLC1A5, a key glutamine transporter, plays a dual role in promoting tumor growth and immune modulation.
View Article and Find Full Text PDFPosterior instrumented correction and fusion of Scheuermann´s results in physiological reconstruction of sagittal alignment and excellent overall clinical outcome- clinical trail of 73 patients.
BMC Musculoskelet Disord
January 2025
Department of Spine Surgery, Ameos Clinic Eutin, Eutin, Germany.
Purpose: The aim was to assess the clinical outcomes after posterior spinal fusion (PSF) in patients with Scheuermann's disease (SD).
Methods: SD undergoing PSF were retrospectively analyzed. Clinical outcome was determined using SRS-22- and Eq.
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