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Ital J Pediatr
January 2025
Pediatric Immuno-Rheumatology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Background: Atraumatic avascular necrosis (AVN) is a severe condition that may complicate the course of rheumatic diseases and contribute to long-term damage. However, there is a lack of evidence on this rare event in pediatric rheumatology. The aim of our study was to evaluate the occurrence of avascular necrosis in the context of rheumatologic diseases in Italy and to describe the main demographic and clinical features of AVN patients, with a particular focus on treatment background.
View Article and Find Full Text PDFOrphanet 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.
Eur J Med Res
January 2025
Department of Thoracic Medicine, Chang Gung Memorial Hospital, Linkou Branch, No. 5, Fu-Shing St., GuiShan, Taoyuan, Taiwan.
Background: This study compared the ventilatory variables and computed tomography (CT) features of patients with coronavirus disease 2019 (COVID-19) versus those of patients with pulmonary non-COVID-19-related acute respiratory distress syndrome (ARDS) during the early phase of ARDS.
Methods: This prospective, observational cohort study of ARDS patients in Taiwan was performed between February 2017 and June 2018 as well as between October 2020 and January 2024. Analysis was performed on clinical characteristics, including consecutive ventilatory variables during the first week after ARDS diagnosis.
Cancer Metab
January 2025
Department of Dermatology, Venereology and Allergology, University Medical Center and Medical Faculty Mannheim, Heidelberg University, Theodor-Kutzer-Ufer 1-3, Mannheim, 68167, Germany.
Background: In malignant melanoma, liver metastases significantly reduce survival, even despite highly effective new therapies. Given the increase in metabolic liver diseases such as metabolic dysfunction-associated steatotic liver disease (MASLD) and metabolic dysfunction-associated steatohepatitis (MASH), this study investigated the impact of liver sinusoidal endothelial cell (LSEC)-specific alterations in MASLD/MASH on hepatic melanoma metastasis.
Methods: Mice were fed a choline-deficient L-amino acid-defined (CDAA) diet for ten weeks to induce MASH-associated liver fibrosis, or a CDAA diet or a high fat diet (HFD) for shorter periods of time to induce early steatosis-associated alterations.
BMC Pediatr
January 2025
Pediatric Internal Medicine, Yantai Yuhuangding Hospital, No.20 Yuhuangding East Road, Zhifu District, Yantai City, Shandong, 264000, China.
Background: Common clinical findings in patients with 19p13.3 duplication include intrauterine growth restriction, intellectual disability, developmental delay, microcephaly, and distinctive facial features. In this study, we report the case of a patient with 19p13.
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