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http://dx.doi.org/10.1002/ajmg.a.30381 | DOI Listing |
J Biol Methods
October 2024
University of Texas Rio Grande Valley School of Medicine, 1201 West University Drive, Edinburg, TX 78539, USA.
Background: This is the first study to examine a cohort that engages in the practice of immunization with snake venoms. In this practice, either fresh wet venom or venom reconstituted from freeze-dried form is used in vaccination protocols to produce hyper-immunity to venom.
Methods: This is a retrospective community-initiated collaborative research (CICR) project that collated the records of venom immunization.
Mol Ecol Resour
January 2025
Key Laboratory of Eco-Environments in Three Gorges Reservoir Region (Ministry of Education), School of Life Sciences, Southwest University, Chongqing, China.
Pardosa spiders, belonging to the wolf spider family Lycosidae, play a vital role in maintaining the health of forest and agricultural ecosystems due to their function in pest control. This study presents chromosome-level genome assemblies for two allied Pardosa species, P. laura and P.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Internal Medicine, Yale School of Medicine, New Haven, Connecticut, USA
An African American man in his early 40s with progressive gait impairment and chronic cognitive impairment initially presented to the emergency department after statements of self-harm and was hospitalised. Examination revealed notable neurological abnormalities including impaired memory recall, oral dyskinesia/choreiform movements, dystonia of the right upper extremity with drift, hyper-reflexia and spastic gait. On further evaluation, including neurology and genetics consultation and workup, a clinical diagnosis of the neurodegenerative disorder Huntington's disease (HD) was made.
View Article and Find Full Text PDFJ Clin Immunol
January 2025
Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Seattle, WA, USA.
Reduced function or hypomorphic variants in recombination-activating genes (RAG) 1 or 2 result in a broad clinical phenotype including common variable immunodeficiency (CVID) and even adult-onset disease. Milder RAG variants are less characterized. Here we describe the longitudinal course of a milder combined RAG deficiency in 3 of 7 siblings sharing the same RAG2 mutations over a 50-year study.
View Article and Find Full Text PDFJ Affect Disord
January 2025
Research Department of Clinical, Educational & Health Psychology, University College London, UK; Anna Freud National Centre for Children and Families, London, UK.
Background: The mentalization-based perspective of Borderline Personality Disorder (BPD) underscores fluctuating interpersonal functionality, believed to arise from suboptimal mentalization modes, including hyper- and hypomentalizing. The connection between ineffective mentalizing and specific BPD challenges remains ambiguous. Network theory offers a unique means to investigate the hypothesis that distinct yet interconnected mental challenges ('symptoms') construct 'disorders' through their continuous mutual interactions.
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