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Filename: controllers/Detail.php
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Filename: controllers/Detail.php
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Function: _error_handler
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Filename: controllers/Detail.php
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Filename: models/Detail_model.php
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Function: strpos
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Function: insertAPISummary
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Filename: helpers/my_audit_helper.php
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Function: str_replace
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Function: formatAIDetailSummary
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Filename: controllers/Detail.php
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Function: _error_handler
File: /var/www/html/index.php
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Filename: controllers/Detail.php
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Line: 256
Function: _error_handler
File: /var/www/html/index.php
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Filename: controllers/Detail.php
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Filename: controllers/Detail.php
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Filename: controllers/Detail.php
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Filename: controllers/Detail.php
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Filename: controllers/Detail.php
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Filename: controllers/Detail.php
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Background: A reduction of ADA2 activity due to autosomal recessive loss of function mutations in CECR1 results in a newly described vasculopathic phenotype reminiscent of polyarteritis nodosa, with manifestations ranging from fatal systemic vasculitis with multiple strokes in children to limited cutaneous disease in middle-aged individuals. Evidence indicates that ADA2 is essential for the endothelial integrity of small vessels. However, CECR1 is not expressed, nor is the ADA2 protein detectable, in cultured human endothelial cells, thus implicating additional cell types or circulating factors in disease pathogenesis.
Methods: Considering the phenotypic overlap of ADA2 deficiency with the type I interferonopathy Aicardi-Goutières syndrome due to mutations in SAMHD1, we looked for the presence of an interferon signature in the peripheral blood of two newly ascertained ADA2-deficient patients.
Results: We identified biallelic CECR1 mutations in two patients consistent with ADA2 deficiency. Both patients demonstrated an upregulation of interferon stimulated gene transcripts in peripheral blood. More strikingly however, genome-wide analysis revealed a marked overexpression of neutrophil-derived genes, suggesting that the vasculitis seen in ADA2 deficiency may be an indirect effect resulting from chronic and marked activity of neutrophils.
Conclusions: We hypothesise that ADA2 may act as a regulator of neutrophil activation, and that a reduction of ADA2 activity results in significant endothelial damage via a neutrophil-driven process.
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http://dx.doi.org/10.1186/1546-0096-12-44 | DOI Listing |
Pharmacol Res Perspect
February 2025
Department of Clinical Pharmacology, Wroclaw Medical University, Wroclaw, Poland.
The enzyme N-acetyltransferase 2 (NAT2) plays an important role in metabolism and detoxification of xenobiotics, including carcinogens and medications. We aimed to assess the contribution of the NAT2 polymorphism to susceptibility to inflammatory bowel disease (IBD) in the Polish population. The study involved 101 IBD patients and 100 healthy controls.
View Article and Find Full Text PDFFront Med (Lausanne)
December 2024
Department of Hematology, Xuanwu Hospital, Capital Medical University, Beijing, China.
POEMS syndrome is a complex and rare hematological disease involving multiple physiological systems. According to the currently accepted diagnostic criteria for POEMS syndrome, polyneuropathy is one of the primary mandatory criteria. A patient presented with M protein, Castleman disease (CD), elevated vascular endothelial growth factor (VEGF), extravascular volume overload, and endocrinopathy.
View Article and Find Full Text PDFBlood Genom Discov
October 2024
Department of Pathology and Laboratory Medicine, University of Vermont Larner College of Medicine, Burlington, VT 05405, USA.
Sickle cell trait (SCT) has been associated with alterations in various immune-related laboratory parameters including lower circulating lymphocyte counts. To further characterize the impact of SCT on the immune system, we performed flow cytometry of monocyte and lymphocyte immune cell subsets from peripheral blood mononuclear cells collected in a large, community-based cohort of SCT-positive (n = 68) and SCT-negative (n = 959) Black adults. SCT was significantly associated with lower proportions of CD8 and CD4 T cell subsets that include senescent-like markers of repeated immune system challenges.
View Article and Find Full Text PDFNat Sci Sleep
December 2024
Department of Cardiovasology, the Traditional Chinese Affiliated Hospital of Xinjiang Medical University, Urumqi, 830011, People's Republic of China.
Purpose: Intermittent hypoxia (IH), a defining feature of obstructive sleep apnea (OSA), is associated with heart damage and linked to transient receptor potential canonical channel 5 (TRPC5). Nonetheless, the function of TRPC5 in OSA-induced cardiac injury remains uncertain. For this research, we aimed to explore the role and potential mechanism of TRPC5 in cardiomyocyte injury induced by intermittent hypoxia.
View Article and Find Full Text PDFCureus
November 2024
Department of Pathology, Atal Bihari Vajpayee Government Medical College, Vidisha, IND.
Background: The most typical cause of thrombocytopenia is immune-mediated thrombocytopenic purpura (ITP). Thrombocytopenia can cause insufficient clot formation and increase the risk of bleeding. Bone marrow aspiration is commonly used for this purpose.
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