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关键词： Brazilian population   HLA-DPA1   new allele   NGS   REDOME  

摘要： Identification of the novel HLA-DPA1*02:133N allele in Brazilian individual.

关键词： HLA-B*15:639   next-generation sequencing   novel allele  

摘要： HLA-B*15:639 differs from HLA-B*15:01:01:01 by one single nucleotide substitution at position 71 C>T in exon 1.

关键词： Rheumatoid arthritis   Interleukin   IL-32   IL-37   Genetic variants  

摘要： BackgroundInterleukin (IL)-32 and IL-37 are implicated in the pathophysiology of rheumatoid arthritis (RA). The aim of this study is to investigate serum levels and the genotypes of the IL-32 and IL-37 variants (IL-32 (rs28372698) and IL-37 (rs3811047)) in RA patients compared to controls and to evaluate the relation between these variables and RA disease ***-seven RA patients who fulfilled the 2010 ACR diagnostic criteria of rheumatoid arthritis and 44 controls were included in the study. Measurement of serum IL-32 and IL-37 levels was performed using human IL-32 and human IL-37 enzyme-linked immunosorbent assay (ELISA)s. Genotyping of the IL-32 and IL-37 variants (IL-32 (rs28372698) and IL-37 (rs3811047)) was done by real-time polymerase chain *** elevations in serum levels of IL-32 and IL-37 in RA patients were found compared to controls, but no significant difference in genetic variants. Serum levels of IL-37 were statistically significantly lower in RA patients treated with corticosteroids. A statistically significant association was found between the TT genotype of IL-32 and higher disease activity and extra-articular manifestations. Additionally, a statistically significant association was found between the AA genotype of IL-37 in RA patients and joint *** patients have higher serum levels of IL-32 and IL-37 compared to healthy controls, making them potential diagnostic indicators. However, no correlation was found between these serum levels and the inflammatory markers, the RA disease activity, or the lipid profile in RA patients. The TT genotype of IL-32 and the AA genotype of IL-37 were associated significantly with high disease activity, extra-articular manifestations, and deformities. These findings emphasize the need for closer follow-up for RA patients carrying the genotypes to avoid unfavorable outcomes.

关键词： 流行性感冒   甲型流感病毒   乙型流感病毒   抗原   流行病学   儿童  

摘要： 目的 探讨四川某医院2019—2024年儿童甲型与乙型流行性感冒的流行病学特征,为流感防控提供依据。方法 选取2019年1月2024年12月在四川锦欣西囡妇女儿童医院儿科进行甲型与乙型流感病毒抗原检测的43 348例呼吸道感染患儿为研究对象,采用胶体金法检测抗原,分析流感的流行强度、季节规律及年龄性别差异。结果 在流行性感冒患儿中抗原总阳性率为24.19%,其中甲型流感病毒抗原(甲型)阳性率为21.64%,乙型流感病毒抗原(乙型)阳性率为2.56%。甲型和乙型阳性率在不同年份间差异均有统计学意义(P<0.05)。甲型在婴幼儿、学龄前儿童和学龄儿童的阳性率分别为16.13%、25.66%和24.55%,乙型分别为1.42%、2.64%和3.95%,甲型和乙型阳性率在不同年龄间差异均有统计学意义(P <0.05)。甲型在男女患儿中阳性率分别为22.22%、21.00%,差异有统计学意义(P<0.05),乙型分别为2.60%、2.51%,无统计学差异。甲型在春、夏、秋和冬季的阳性率分别为27.66%、11.94%、13.10%和21.98%,乙型分别为1.21%、0.09%、1.62%和5.53%,甲、乙阳性率在季节间差异均有统计学意义(P<0.05)。结论 甲型流感病毒抗原总体阳性率高于乙型,甲型与乙型流感的易感人群有差异,甲型流感的高发季节为冬季和春季,乙型流感的高发季节为冬季。

关键词： HLA-DPB1*05:01:20   next-generation sequencing   novel allele  

摘要： HLA-DPB1*05:01:20 differs from HLA-DPB1*05:01:01:01 by one single nucleotide substitution in Exon 3.

摘要： Adolescent idiopathic scoliosis (AIS) is a complex three-dimensional spinal deformity that primarily affects adolescents, and its pathogenesis remains elusive. Several studies have indicated that AIS may be associated with low bone mineral density, and bone marrow mesenchymal stem cells (BMSCs) are known to play a crucial role in bone metabolism. Through high-throughput sequencing of the BMSC transcriptome, we identified 1919 differentially expressed genes and pinpointed IL6ST as a key gene influencing osteogenic differentiation in AIS. Mechanistic experiments revealed that IL6ST regulates the osteogenic differentiation of BMSCs by activating the JAK/STAT3/RANKL/OPG pathway. Moreover, knockout of IL6ST expression significantly increased the malformation rate in zebrafish models. We further explored upstream regulators of IL6ST. Using high-throughput sequencing and bioinformatics analysis, we identified CircSCAF8 as a potential upstream regulatory circRNA of IL6ST. Collectively, these findings suggest that IL6ST may be a pivotal gene in the development of AIS, deepening our understanding of its pathogenesis.

摘要：

关键词： Alopecia areata   Interleukin-2   JAK inhibitor   Regulatory T cells   Sequential immunotherapy   Sustained remission   Tofacitinib  

摘要： BACKGROUND:Alopecia areata (AA) is a chronic autoimmune condition that causes non-scarring hair loss and often leads to significant psychosocial distress. Although Janus kinase (JAK) inhibitors such as tofacitinib are effective, relapse after stopping treatment remains a major challenge. New evidence indicates that low-dose interleukin-2 (IL-2) may help maintain remission by increasing regulatory T cells, which can restore immune tolerance. OBJECTIVE:This proof-of-concept study aimed to evaluate the efficacy of sequential immunotherapy combining tofacitinib and low-dose IL-2 in inducing sustained remission for AA patients after treatment withdrawal. METHODS:A monocentric, retrospective case series was conducted at Xiangya Hospital, China, from September 2022 to May 2025. The IL-2 regimen comprised subcutaneous injections (0.5-1 million IU/day for 5 consecutive days per cycle), repeated every 3 weeks for 2-3 cycles. Tofacitinib was tapered and discontinued post-IL-2 therapy. Clinical outcomes, including relapse-free survival and safety, were monitored longitudinally. RESULTS:Four refractory AA patients (median follow-up: 32.5 months) with complete hair regrowth (SALT = 0) after ≥6 months of tofacitinib received adjunctive IL-2. Three patients maintained complete remission for 11-20 months after treatment cessation, while one experienced localized recurrence at 5 months but achieved control with low-dose tofacitinib maintenance. No adverse events were reported. CONCLUSION:Sequential tofacitinib and low-dose IL-2 therapy may reestablish immune tolerance, offering a potential strategy for drug-free remission. Larger trials are needed to confirm efficacy and optimize protocols.

关键词： NCAPD2   PI3K/AKT   MHC-I   Gastric cancer   Immune evasion  

摘要： BackgroundImpaired major histocompatibility complex class I (MHC-I) antigen presentation constitutes a fundamental mechanism of tumor immune evasion, yet the upstream molecular drivers in gastric cancer (GC) remain enigmatic. Although non-structural maintenance of chromosomes condensin I complex subunit D2 (NCAPD2) demonstrates oncogenic potential across malignancies, its functional crosstalk with immune surveillance mechanisms remains *** conducted transcriptome sequencing on NCAPD2-silenced GC cell lines to identify differentially expressed genes (DEGs), followed by GO and KEGG pathway analyses. Leveraging the TCGA cohort, we analyzed NCAPD2 expression patterns and evaluated its clinical relevance in GC through survival analysis. Orthogonal validation was performed via qRT-PCR and Western blot to quantify mRNA and protein levels of NCAPD2 and MHC-I. To functionally characterize the oncogenic phenotype, we employed CCK-8, wound healing, Transwell, and flow cytometry, providing a multi-parametric assessment of malignant progression ***2 was overexpressed in GC tissues and associated with poorer patient survival. Functional characterization in GC cell lines revealed that NCAPD2 knockdown significantly inhibited malignant phenotypes, including slowed proliferation, weakened migration, reduced invasion, and enhanced apoptosis. Mechanistically, NCAPD2 downregulated MHC-I surface expression, a critical immune evasion mechanism, and this suppression was partially rescued by treatment with the PI3K inhibitor LY294002, suggesting the involvement of the PI3K/Akt signaling pathway in NCAPD2-mediated immune *** GC, elevated NCAPD2 expression is a negative prognostic marker associated with advanced tumor stage and poorer survival. Functionally, NCAPD2 promotes malignant phenotypes and downregulates MHC-I antigen presentation via the PI3K/AKT pathway, thereby facilitating immune evasion. These findings suggest NCAPD2 as a pote