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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 PDFDisparate X-linked retinoschisis phenotypes in fraternal twins with the same pathogenic variant in the gene.
Ophthalmic Genet
March 2025
Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Introduction: In X-linked retinoschisis (XLRS), the RS1 pathogenic variant and the patient's age might be the most important determinants of the XLRS phenotype. In this case report, we present fraternal twins with the same RS1 pathogenic mutation who were examined at the same age yet exhibited significantly different phenotypes.
Methods: This is a retrospective case report.
Perceptions About Care and Support Among Cancer Survivors With Severe Mental Health Conditions.
Psychooncology
March 2025
Faculty of Social Welfare and Health Sciences, School of Social Work, University of Haifa, Haifa, Israel.
Background: Research on the attitudes and support received by cancer survivors with preexisting severe mental health conditions (SMHC) from their families and oncology professionals is lacking.
Aims: To explore how individuals with SMHC perceive and experience family and oncology team attitudes and care.
Methods: Participants were 25 cancer survivors, 6 men and 18 women, aged 26-86 with preexisting SMHC.
Prevalence and Impact of Postoperative Sexual Dysfunction After Major Emergency Abdominal Surgery: A Prospective Cohort Study.
World J Surg
March 2025
Emergency Surgery Research Group Copenhagen (EMERGE), Department of Hepatic and Gastrointestinal Diseases, Copenhagen University Hospital-Herlev and Gentofte, Herlev, Denmark.
Introduction: Sexual dysfunction is commonly reported after cancer surgery or pelvic surgery; however, the incidence following major emergency abdominal surgery remains unknown. This study aimed to investigate the incidence and sex differences in sexual dysfunction up to 90 days postoperatively after major emergency abdominal surgery.
Methods: This single-center prospective cohort study included all consecutive patients undergoing major emergency abdominal surgery at Copenhagen University Hospital Herlev from March 2023 to March 2024.
Implementation of occupation-centred practice by occupational therapists in acute adult physical settings: A mixed method study in a regional and rural health service.
Aust Occup Ther J
April 2025
Research Development and Engagement Unit, Darling Downs Health, Toowoomba, Queensland, Australia.
Introduction: Occupational therapy is underpinned by the belief that occupation facilitates health and wellbeing. However, evidence suggests that occupational therapists encounter challenges to implementing occupation-centred practice. The aim of this study was to investigate the uptake, acceptability and impact of a workplace intervention designed to enhance occupation-centred practice of occupational therapists in an acute adult physical context.
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