Human recombination-activating gene (RAG) deficiency can manifest with distinct clinical and immunological phenotypes. By applying a multiomics approach to a large group of -mutated patients, we aimed at characterizing the immunopathology associated with each phenotype. Although defective T and B cell development is common to all phenotypes, patients with hypomorphic variants can generate T and B cells with signatures of immune dysregulation and produce autoantibodies to a broad range of self-antigens, including type I interferons.
View Article and Find Full Text PDFBackground: Distinct clinical course patterns have been identified between AQP4-IgG-positive and AQP4-IgG-negative NMOSD patients.
Objectives: This study aimed to evaluate the differences between AQP4-IgG-seropositive and AQP4-IgG-seronegative NMOSD patients in a single centre in Argentina.
Methods: We performed a retrospective cross-sectional study of 108 NMOSD patients in the city of Buenos Aires, Argentina.
The data from recent years on chronic disease mortality in Rome's V district show a significant disparity compared to the city's central neighborhoods, with a 23% increase in chronic diseases and an 80% rise in diabetes cases. The 'Ambulatorio Popolare Roma Est', an autonomous healthcare facility founded in 2022 in Quarticciolo neighborhood, is run by over 30 volunteers, including medical specialists, therapists, nutritionists and students. The clinic provides free services such as medical consultations, psychological support and nutritional advice.
View Article and Find Full Text PDFRecenti Prog Med
December 2024
The paper highlights the limited healthcare access for women in Rome's outskirts, worsened by gender-related barriers. The progressive reduction of services at the via Manfredonia clinic has left the Quarticciolo community underserved. To address this, Ambulatorio Popolare Roma Est promotes grassroots mobilization and conducted a survey identifying local women's health priorities, like cervical cancer screening, psychological counseling, and contraception.
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