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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.
Multimodal learning for mapping genotype-phenotype dynamics.
Nat Comput Sci
January 2025
Institute for Medical Engineering and Science, Massachusetts Institute of Technology, Cambridge, MA, USA.
How complex phenotypes emerge from intricate gene expression patterns is a fundamental question in biology. Integrating high-content genotyping approaches such as single-cell RNA sequencing and advanced learning methods such as language models offers an opportunity for dissecting this complex relationship. Here we present a computational integrated genetics framework designed to analyze and interpret the high-dimensional landscape of genotypes and their associated phenotypes simultaneously.
View Article and Find Full Text PDFStructured surgical training in minimally invasive esophagectomy (MIE) increases textbook outcome-a risk-adjusted learning curve.
Surg Endosc
January 2025
Department of Surgery, Campus Charité Mitte Campus Virchow-Klinikum, Charité Universitätsmedizin Berlin, Berlin, Germany.
Background: Minimally Invasive Esophagectomy (MIE) is a complex surgical procedure that has become a cornerstone in the management of esophageal cancer. This study aims to delineate the learning curve associated with MIE and its impact on patient outcomes.
Methods: A retrospective analysis was conducted on 191 patients who underwent MIE between 2015 and 2022.
The role of CLDN11 in promotion of granulosa cell proliferation in polycystic ovary syndrome via activation of the PI3K-AKT signalling pathway.
Sci Rep
January 2025
Department of Obstetrics and Gynecology, The Second Hospital of Jilin University, No. 4110 Yatai Street, Nanguan District, Changchun, Jilin, 130000, China.
Polycystic ovary syndrome (PCOS) is a complex gynecological endocrinological condition that significantly impacts women's fertility during their reproductive lifespan. The causes of PCOS are multifaceted, and its pathogenesis is not yet clear. This study established a rat model of PCOS and, in conjunction with clinical samples and database data, analysed the role of claudin 11 (CLDN11) in follicular granulosa cells (GCs) in regulating the proliferation of GCs.
View Article and Find Full Text PDFMonitoring of inflammatory preterm responses via myometrial cell based multimodal electrophysiological and optical biosensing platform.
Biosens Bioelectron
January 2025
Department of Chemistry, ZJU-Hangzhou Global Scientific and Technological Innovation Center, School of Medicine, Zhejiang University, Hangzhou, 310058, China; General Surgery Department, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children's Health, Hangzhou, 310052, China. Electronic address:
Preterm birth (PTB) remains a leading cause of neonatal morbidity and mortality, with inflammation-induced PTB posing a significant challenge due to its complex pathophysiology. To address this, we developed an in vitro platform utilizing hTERT-immortalized human myometrial (hTERT-HM) cells integrated with a multielectrode array (MEA) biosensing system and optical calcium imaging. Compared to primary uterine myometrial cells, hTERT-HM cells exhibit superior reproducibility, high scalability, and convenient manipulation, facilitating the consistent and large-scale investigations.
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