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Range-wide understanding of genetic diversity and population structure of endangered Kashmir musk deer in North-Western Himalaya.
Mol Biol Rep
January 2025
Zoological Survey of India, Kolkata, 700053, India.
Background: The endangered Kashmir musk deer (Moschus cupreus), native to high-altitude Himalayas, is an ecological significant and endangered ungulate, threatened by habitat loss and poaching for musk pod distributed in western Himalayan ranges of India, Nepal and Afghanistan. Despite its critical conservation status and ecological importance in regulating vegetation dynamics, knowledge gaps persist regarding its population structure and genetic diversity, hindering effective management strategies.
Methods And Results: We aimed to understand the population genetics of Kashmir musk deer in north-western Himalayas using two mitochondrial DNA (mtDNA) regions and 11 microsatellite loci.
Comparison of the natural course of clinical and radiologic features in 13 patients with TRPV4-related skeletal dysplasias.
Pediatr Radiol
January 2025
Department of Pediatric Genetics, Istanbul University-Cerrahpaşa, Cerrahpasa Medical Faculty, 34098, Cerrahpasa, Istanbul, Turkey.
Background: Heterozygous TRPV4 mutations cause a group of skeletal dysplasias characterized by short stature, short trunk, and skeletal deformities.
Objective: The aim of this study is to compare the natural history of clinical and radiologic features of patients with different TRPV4-related skeletal dysplasias.
Materials And Methods: Thirteen patients with a mutation in TRPV4 were included in the study, and 11 were followed for a median of 6.
Disparities in utilization of novel cancer therapies in advanced stage III and IV melanoma and variance in outcomes.
Immunotherapy
January 2025
Department of Surgery, Division of Surgical Oncology, Roger Williams Medical Center, Providence, RI, USA.
Introduction: Significant gains in advanced melanoma have been made through immunotherapy trials. Factors influencing equitable access and survival impact of these novel therapies are not well-defined.
Method: Retrospective analysis using National Cancer Database of patients with advanced stage III and IV melanoma from 2004 to 2021.
Early CRPS Is a Heterogeneous Condition: Results From a Latent Class Analysis.
Eur J Pain
February 2025
Institute of Neuroscience, Université Catholique de Louvain, Brussels, Belgium.
Background: Complex regional pain syndrome (CRPS) is a debilitating condition characterised by significant heterogeneity. Early diagnosis is critical, but limited data exists on the condition's early stages. This study aimed to characterise (very) early CRPS patients and explore potential subgroups to enhance understanding of its mechanisms.
View Article and Find Full Text PDFCharacterisation of the ocular inflammatory response to AAV reveals divergence by sex and age.
Mol Ther
January 2025
Academic Unit of Ophthalmology, Translational Health Sciences, University of Bristol, Bristol, BS8 1TD, UK; NIHR Biomedical Research Centre of Ophthalmology, Moorfields Eye Hospital, London, EC1V 2PD, UK. Electronic address:
Progress for ocular AAV gene therapy has been hindered by AAV-induced inflammation, limiting dose escalation and long-term efficacy. Broadly, the extent of inflammatory responses alters with age and sex, yet these factors are poorly represented in pre-clinical development of ocular AAV gene therapies. Here, we combined clinical imaging, flow cytometry and bulk-sequencing of sorted microglia to interrogate the longitudinal inflammatory response following intravitreal delivery of AAV2 in young (3-month), middle aged (9-month) and old (18-month) Cx3cr1-creER:R26tdTomato+/- mice of both sexes.
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