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[Analysis of a Chinese pedigree with hereditary spherocytosis caused by intron variation of SPTB gene].
Zhonghua Er Ke Za Zhi
March 2025
Department of Pediatrics, First Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710061, China.
To analyze a novel intronic variant in the SPTB gene and explore its effect on SPTB mRNA splicing. Clinical data of a child diagnosed with hereditary spherocytosis (HS) and admitted to the First Affiliated Hospital of Xi'an Jiaotong University in February 2022 were analyzed retrospectively. Whole genome sequencing was used to identify disease-causing mutations and the results were validated with Sanger sequencing, mRNA sequencing was used to determine the SPTB gene's mRNA expression level, and bioinformatics tools were used for splicing site prediction and analysis.
View Article and Find Full Text PDFThe Association of the Cancer Inflammation Prognostic Index with Microsatellite Instability, Tumor Budding and Prognosis in Colorectal Adenocarcinoma.
Ann Ital Chir
March 2025
Department of General Surgery, Başakşehir Çam and Sakura City Hospital, 34480 İstanbul, Turkey.
Aim: This study aimed to investigate the relationship between the Cancer Inflammation Prognostic Index (CIPI) and microsatellite instability (MSI), tumor budding, and prognosis in colorectal cancer cases.
Methods: Patients with stage 1-3 colorectal cancer who underwent curative surgical treatment between May 2020 and January 2022 were included. Serum CIPI was calculated, a cut-off point was established using Receiver Operating Characteristic (ROC) analysis and Patients were divided into two groups according to their CIPI scores: Group 1 (low CIPI) consisted of 94 patients, and Group 2 (high CIPI) consisted of 95 patients.
Association of plasma metabolites with treatment response after intravitreal anti-vascular endothelial growth factor injections in treatment-naïve neovascular age-related macular degeneration.
BMJ Open Ophthalmol
March 2025
Ophthalmology, Mass Eye and Ear, Boston, Massachusetts, USA
Background/aims: To investigate the association between plasma metabolomic profiles and treatment response after intravitreal anti-vascular endothelial growth factor (VEGF) injections in treatment-naïve neovascular age-related macular degeneration (nAMD).
Methods: This is part of a prospective longitudinal study that included patients with treatment-naïve nAMD who have undergone three loading intravitreal anti-VEGF injections. All patients underwent ophthalmological examinations including spectral domain optical coherence tomography (SD OCT).
Pragmatic, multicentre, randomised controlled trial of a Hospital-Community-Home Tiered Transitional Care (HCH-TTC) programme for individuals with type 2 diabetes: a study protocol.
BMJ Open
March 2025
Department of Nursing, Gongli Hospital of Shanghai Pudong New Area, Shanghai, China
Introduction: Type 2 Diabetes Mellitus (T2DM) and its complications significantly increase the risk of premature mortality and disability among patients, placing a considerable burden on socioeconomic development. Evidence has shows that effective transitional care can improve health outcomes for patients with T2DM. However, T2DM transitional care faces challenges including service discontinuity, communication breakdowns and a lack of personalised design, leading to potential issues of undertreatment and overtreatment, increasing the risk of improper blood sugar management.
View Article and Find Full Text PDFTranscriptomic analysis of intracellular RNA granules and small extracellular vesicles: Unmasking their overlap in a cell model of Huntington's Disease.
Mol Cell Probes
March 2025
Human and Neurobiology, Department of Chemistry and Biology, University of Siegen, Siegen, Germany. Electronic address:
Huntington's disease (HD) arises from the abnormal expansion of a CAG repeat in the HTT gene. The mutant CAG repeat triggers aberrant RNA-protein interactions and translates into toxic aggregate-prone polyglutamine protein. These aberrant RNA-protein ineractions also seed the formation of cytoplasmic liquid-like granules, such as stress granules.
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