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A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.
Hereditas
January 2025
Key Laboratory of Reproductive Health Diseases Research and Translation of Ministry of Education & Key Laboratory of Human Reproductive Medicine and Genetic Research of Hainan Provincie & Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan, 571101, China.
Background: The dynein cytoplasmic two heavy chain 1 (DYNC2H1) gene encodes a cytoplasmic dynein subunit. Cytoplasmic dyneins transport cargo towards the minus end of microtubules and are thus termed the "retrograde" cellular motor. Mutations in DYNC2H1 are the main causative mutations of short rib-thoracic dysplasia syndrome type III with or without polydactyly (SRTD3).
View Article and Find Full Text PDFWake-up call for recovery: a paradigm shift to address the deep crisis in Israel's public mental health services in the shadow of October 7, 2023.
Isr J Health Policy Res
January 2025
Geha Mental Health Center, Helsinki 1st, Petach-Tikva, +9729258220, Israel.
Background: The events of October 7, 2023, and the subsequent war have starkly exposed the shortcoming of Israel's public mental health system. This system, already strained by years of underfunding and the COVID-19 pandemic, was unprepared for the surge in mental health needs resulting from these traumatic events. This paper outlines the systemic failures and proposes a comprehensive overhaul reform towards an integrative community-based, recovery-oriented mental health service.
View Article and Find Full Text PDFPolyp and tumor microenvironment reprogramming in colorectal cancer: insights from mucosal bacteriome and metabolite crosstalk.
Ann Clin Microbiol Antimicrob
January 2025
Department of Science and Environment, Roskilde University, Roskilde, Denmark.
Background: Highly frequent colorectal cancer (CRC) is predicted to have 3.2 million novel cases by 2040. Tumor microenvironment (TME) bacteriome and metabolites are proposed to be involved in CRC development.
View Article and Find Full Text PDFIdentification of emerging harms due to COVID-19 outbreak: a qualitative study in Iran.
BMC Public Health
January 2025
Preventive Medicine and Public Health Research Center, Psychosocial Health Research Institute, Department of Community and Family Medicine, School of Medicine, Iran University of Medical Sciences, Tehran, Iran., Shahid Hemmat Highway, Tehran, P.O Box: 14665-354, 1449614535, Iran.
Introduction: Although COVID-19 has altered various harms and exacerbated the prevalence of some of them, this period has also set the stage for the emergence of new harms. The present study aims to identify the emerging harms resulting from the COVID-19 outbreak in Iran.
Methods: The study was conducted using a qualitative content analysis approach through semi-structured interviews with 21 experts and professors knowledgeable about social harms and COVID-19 consequences who were selected through purposive and theoretical sampling.
Identification of unmet information needs among families of critically ill patients and their association with post-intensive care syndrome-family: protocol for a single-center cross-sectional study.
BMC Palliat Care
January 2025
Departments of Emergency and Critical Care Medicine, Graduate School of Medicine, Nippon Medical School, Tokyo, Japan.
Background: Families of critically ill patients in the intensive care unit (ICU) need a variety of information about the patient. Meeting these information needs improves the quality of communication between the family and ICU staff, as well as reduces the risk of post-intensive care syndrome-family (PICS-F). However, information needs continue to be unmet, and information regarding which specific information needs are met or unmet is insufficient.
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