Objective: Dysregulated central tolerance predisposes to autoimmune diseases. Reduced thymic output as well as compromised central B cell tolerance checkpoints have been proposed in the pathogenesis of juvenile idiopathic arthritis (JIA). The aim of this study was to investigate neonatal levels of T-cell receptor excision circles (TRECs) and kappa-deleting element excision circles (KRECs), as markers of T- and B-cell output at birth, in patients with early onset JIA.
Methods: TRECs and KRECs were quantitated by multiplex qPCR from dried blood spots (DBS), collected 2-5 days after birth, in 156 children with early onset JIA and in 312 matched controls.
Results: When analysed from neonatal dried blood spots, the median TREC level was 78 (IQR 55-113) in JIA cases and 88 (IQR 57-117) copies/well in controls. The median KREC level was 51 (IQR 35-69) and 53 (IQR 35-74) copies/well, in JIA cases and controls, respectively. Stratification by sex and age at disease onset did not reveal any difference in the levels of TRECs and KRECs.
Conclusion: T- and B-cell output at birth, as measured by TREC and KREC levels in neonatal dried blood spots, does not differ in children with early onset JIA compared to controls.
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http://dx.doi.org/10.1016/j.clim.2023.109277 | DOI Listing |
Pediatr Rheumatol Online J
December 2024
Translational Genetics Research Group, La Fe Health Research Institute (IIS La Fe), Avenida Fernando Abril Martorell nº 106 Tower A, 7th Floor, Valencia, Spain.
Background: Aicardi-Goutières Syndrome is a monogenic type 1 interferonopathy with infantile onset, characterized by a variable degree of neurological damage. Approximately 7% of Aicardi-Goutières Syndrome cases are caused by pathogenic variants in the ADAR gene and are classified as Aicardi-Goutières Syndrome type 6. Here, we present a new homozygous pathogenic variant in the ADAR gene.
View Article and Find Full Text PDFAllergol Int
December 2024
Department of Dermatology, Tohoku University Graduate School of Medicine, Sendai, Japan.
Background: Identification of predictive biomarkers is crucial for formulating preventive interventions and halting the progression of atopic march. Although controversial, the use of accessible markers to predict or detect early onset of atopic diseases is highly desirable. Therefore, this study aimed to investigate whether corneal squamous cell carcinoma antigen-1 (SCCA1) collected from infants can predict the development of atopic dermatitis and food allergy.
View Article and Find Full Text PDFPlant Sci
December 2024
Instituto de Fisiología Vegetal (INFIVE CCT CONICET La Plata), Universidad Nacional de La Plata (UNLP) y Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET). Diagonal 113 Nº 495 (1900) La Plata, Argentina. Electronic address:
Nitrate reductase (NR) is an essential enzyme because of its role in nitrogen metabolism and in key signaling events through the generation of the reactive nitrogen species, nitric oxide (NO). In this work, we evaluated changes in endogenous NO levels during the onset of P-restriction in soybean plants (Glycine max), focusing on the possible pathways involved in its generation, namely NR and NO synthase like activity, NOS, and the subsequent role of NR during low P-acclimation. During the first 96h of P-starvation NO levels increased in the leaves.
View Article and Find Full Text PDFInt J Surg Case Rep
December 2024
Department of Pediatric Surgery, Tribhuvan University Teaching Hospital, Kathmandu, Nepal.
Introduction: Achalasia, a rare esophageal disorder with an annual incidence of 0.11 per 100,000 in children, is characterized by impaired lower esophageal sphincter (LES) relaxation and peristalsis. Infantile cases are extremely uncommon and often linked to genetic conditions like Allgrove and Down syndrome.
View Article and Find Full Text PDFClin J Gastroenterol
December 2024
Department of Gastroenterology and Hepatology, Japanese Red Cross Aichi Medical Center Nagoya Daiichi Hospital, 3-35 Michishita-cho, Nakamura-ku, Nagoya, 453-8511, Japan.
Intravesical Bacillus Calmette-Guérin (BCG) immunotherapy for bladder cancer rarely leads to disseminated BCG infections, most of which occur early after BCG instillations or in immunocompromised patients. We report late-onset disseminated BCG infection after intravesical BCG immunotherapy in a non-immunocompromised patient. A 78-year-old non-immunocompromised man was admitted with fever and hepatosplenomegaly.
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