Purpose Of Review: Target therapy is the necessary step towards personalized medicine. The definition of asthma phenotypes and underlying mechanisms (endotypes) represent a key point in the development of new asthma treatments. Big data analysis, biomarker research and the availability of monoclonal antibodies, targeting specific cytokines is leading to the rapid evolution of knowledge. In this review, we sought to outline many of the recent advances in the field.
Recent Findings: Several attempts have been made to identify asthma phenotypes, sometimes with contrasting results. More success has been obtained concerning the pathogenetic mechanism of specific asthma patterns with the consequent identification of biomarkers and development of effective ad hoc treatment.
Summary: We are in the middle of an extraordinary revolution of our mode of thinking about and approaching asthma. All the effort in the identification of clusters of patients with different disease clinical patterns, prognosis and response to treatment is closely linked to the identification of endotypes (Th2-low and Th2-high). This approach has allowed the development of the specific treatments (anti IgE, Anti IL5 and IL5R) that are now available and is leading to new ones.
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http://dx.doi.org/10.1097/ACI.0000000000000440 | DOI Listing |
The levels of biogenesis of lysosome organelles complex 1 subunit 1 (BLOC1S1) control mitochondrial and endolysosome organelle homeostasis and function. Reduced fidelity of these vacuolar organelles is increasingly being recognized as important in instigating cell-autonomous immune cell activation. We reasoned that exploring the role of BLOC1S1 in CD4 T cells, may further advance our understanding of regulatory events linked to mitochondrial and/or endolysosomal function in adaptive immunity.
View Article and Find Full Text PDFThe Biorepository and Integrative Genomics (BIG) Initiative in Tennessee has developed a pioneering resource to address gaps in genomic research by linking genomic, phenotypic, and environmental data from a diverse Mid-South population, including underrepresented groups. We analyzed 13,152 genomes from BIG and found significant genetic diversity, with 50% of participants inferred to have non-European or several types of admixed ancestry. Ancestry within the BIG cohort is stratified, with distinct geographic and demographic patterns, as African ancestry is more common in urban areas, while European ancestry is more common in suburban regions.
View Article and Find Full Text PDFJ Arthroplasty
January 2025
International Joint Center, Acibadem University Hospital, Istanbul, Turkey.
Am J Hum Genet
January 2025
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany; Institute of Clinical Human Genetics, University Hospital Regensburg, 93053 Regensburg, Germany. Electronic address:
BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants have been associated with a variety of developmental syndromes. However, genotype-phenotype correlations along with pathophysiologic mechanisms of selected variants mostly remain elusive.
View Article and Find Full Text PDFPolymers (Basel)
December 2024
Faculty of Chemistry, Lomonosov Moscow State University, Leninskie Gory, 1/3, 119991 Moscow, Russia.
Macrophage (Mph) polarization and functional activity play an important role in the development of inflammatory lung conditions. The previously widely used bimodal classification of Mph into M1 and M2 does not adequately reflect the full range of changes in polarization and functional diversity observed in Mph in response to various stimuli and disease states. Here, we have developed a model for the direct assessment of Mph from bronchial alveolar lavage fluid (BALF) functional alterations, in terms of phagocytosis activity, depending on external stimuli, such as exposure to a range of bacteria (, and ).
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