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Unveiling the Pathogenic Role of Novel CPLANE1 Compound Heterozygous Variants in Joubert Syndrome: Insights Into mRNA Stability and NMD Pathway.
J Cell Mol Med
March 2025
Center for Reproductive Medicine, Zhongnan Hospital of Wuhan University, Wuhan, Hubei, People's Republic of China.
Joubert syndrome (JS) is a rare neurodevelopmental disorder associated with mutations in genes involved in ciliary function. Germline variants in CPLANE1 have been implicated in JS. In this study, we investigated a family with three adverse pregnancies characterised by fetal malformations consistent with JS.
View Article and Find Full Text PDFDynamic prediction and quantitative assessment of carbon emissions from animal husbandry: A case study of inner mongolia autonomous region, China.
J Environ Qual
March 2025
College of Science, Inner Mongolia University of Technology, Hohhot, China.
Climate change, driven by greenhouse gas emissions, has emerged as a pressing global ecological and environmental challenge. Our study is dedicated to exploring the various factors influencing greenhouse gas emissions from animal husbandry and predicting their future trends. To this end, we have analyzed data from China's Inner Mongolia Autonomous Region spanning from 1978 to 2022, aiming to estimate the carbon emissions associated with animal husbandry in the region.
View Article and Find Full Text PDFAdvancing Metastatic Spine Tumor Research: A Review of AO Spine Knowledge Forum Tumor's Scientific Contributions Derived From the EPOSO Network, 2014-2024.
Global Spine J
March 2025
Combined Neurosurgical and Orthopaedic Spine Program, University of British Columbia, Vancouver, BC, Canada.
Study DesignNarrative Review.ObjectivesTo summarize the work of the AO Spine Knowledge Forum Tumor, specifically studies from the Epidemiology, Process and Outcomes in Spine Oncology (EPOSO) study.MethodsA narrative review of all published manuscripts from the EPOSO study was undertaken.
View Article and Find Full Text PDFCommunity pharmacy services in the late COVID-19 period: What has driven change?
Res Social Adm Pharm
March 2025
WHO Collaborating Centre for Pharmaceutical Pricing and Reimbursement Policies, Pharmacoeconomics Department, Gesundheit Österreich GmbH (GÖG / Austrian National Public Health Institute), Stubenring 6, 1010, Vienna, Austria; Department of Health Policy, London School of Economics and Political Science, Houghton Street, London, WC2A 2AE, UK. Electronic address:
Background: Community pharmacy appears to have undergone considerable change over the years.
Objectives: The objective of this research is to study the range of community pharmacy services provided in late stages of the COVID-19 pandemic and during the last decades and to identify potential drivers for change.
Methods: Four European countries (Austria, England, Estonia, and Portugal), which represent a balance in terms of income, organization of the health system and pharmacy services, were selected as case studies.
Multi-omics analysis of druggable genes to facilitate Alzheimer's disease therapy: A multi-cohort machine learning study.
J Prev Alzheimers Dis
March 2025
Department of Pathophysiology School of Basic Medicine Key Laboratory of Education Ministry/Hubei Province of China for Neurological Disorders Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China. Electronic address:
Background: The swift rise in the prevalence of Alzheimer's disease (AD) alongside its significant societal and economic impact has created a pressing demand for effective interventions and treatments. However, there are no available treatments that can modify the progression of the disease.
Methods: Eight AD brain tissues datasets and three blood datasets were obtained.
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