Clinical and genetic features of UNC13D deficiency with hypogammaglobulinemia.

Background: UNC13D deficiency is the most common form of familial hemophagocytic lymphohistiocytosis (FHL) in Asia. Hypogammaglobulinemia is a rare phenotype observed in both patients with FHL3 and sporadic hemophagocytic lymphohistiocytosis (HLH). Our observations suggest that UNC13D deficiency with hypogammaglobulinemia presents a distinct clinical phenotype compared to other HLH patients.

Evaluating the causal effect of circulating proteome on the risk of Juvenile idiopathic arthritis: an omics pipeline study.

Background: Genome-wide association studies (GWAS) have pinpointed a multitude of risk loci associated with Juvenile Idiopathic Arthritis (JIA), but it is challenging to decipher novel plasma proteins. To address this, we applied an integrative omics pipeline to uncover novel proteins associated with JIA risk.

Methods: In this research, we utilized an integrative omics method to identify new plasma proteins associated with JIA.

The transcription factor FOXA1 upregulates PYCR1-mediated autophagy to suppress antitumor immunity in lung adenocarcinoma.

Background: Immunotherapy has emerged as an effective treatment for lung adenocarcinoma (LUAD) in recent years. However, the ability of cancer cells to suppress antitumor immune responses through multiple mechanisms has become one of the major challenges for therapy. PYCR1 can reinforce the proliferation of LUAD cells, but the function of PYCR1 in LUAD against the tumor immune response has not been fully elucidated.

Innexin DNA-binding domains regulate bracoviral transcription in symbiotic wasps.

Bracoviruses have two hosts: symbiotic wasps and infected hosts. Although symbiotic wasps and infected larva host bracoviruses, mature virions form only in the wasps after the integrated bracovirus (MbBV) proviral genome replicates. However, the associated mechanisms of transcription regulation have not been characterized.

Novel compound heterozygous MRTFA gene variants cause multiple dysfunctions of neutrophils and autoinflammation.

Background: Compound heterozygous mutations in the MRTFA gene have not been reported; the complete clinical phenotypic spectrum associated with MRTFA deficiency remains undefined. Whether such mutations can result in autoinflammatory manifestations is also yet to be determined.

Methods: Comprehensive analyses were conducted on a patient with novel compound heterozygous MRTFA variants, encompassing clinical data collection, genetic validation, and functional studies.

Case Report: Heterozygous out-of-frame frameshift variant in without evidence of neutropenia.

Mutations in the gene, which encodes neutrophil elastase, are known to cause cyclic neutropenia (CyN) and severe congenital neutropenia (SCN). Currently, targeting for insertion-deletion to trigger nonsense-mediated mRNA decay (NMD) may be a simple and universal method to treat SCN caused by mutations. Here, we present a patient with a heterozygous out-of-frame frameshift variant (-2 frame indel) in exon 4 of the gene.

Development of an Integrated EC-SPME-SERS Platform with the pAg-rGO-Au Substrate for Ultrasensitive Detection of Fenthion.

Surface-enhanced Raman scattering (SERS) is widely applied for ultrasensitive and label-free detection of molecules, but its potential is largely limited by complex matrix interference and the weak affinity between target molecules and the SERS substrate. To overcome these limitations, this study fabricates a pAg-rGO-Au substrate and develops an integrated platform combining electrochemistry (EC), solid-phase microextraction (SPME), and SERS. Leveraging the multifunctionality of pAg-rGO-Au (as a working electrode, SPME sorbent, and SERS substrate), the EC-SPME-SERS platform enables electro-enhanced adsorption and in situ detection of fenthion (FEN).

Loss of MALT1 Function in a Patient With Combined Immunodeficiency: a Novel Pathogenic Variant and Immunological Insights.

Background And Objectives: Germline pathogenic variants in the mucosa-associated lymphoid tissue lymphoma translocation gene 1 (MALT1) encodes a caspase-like protease that plays a crucial role in the caspase recruitment domain (CARD)-B-cell lymphoma 10 (BCL10)-MALT1 (CBM) complex. This complex mediates the activation of nuclear factor-kB (NF-kB) pathway and are associated with diverse human diseases including combine immunodeficiency (CID), lymphoproliferation and others. This study aimed to determine the underlying cause of immune deficiency and immune dysregulation in a patient presented with recurrent respiratory infections, aphthous ulcers, dermatitis, chronic diarrhea, failure to thrive and early death.

Validation and optimization of classification criteria for childhood-onset systemic lupus erythematosus in a multi-center Chinese cohort.

Objective: This study evaluated the diagnostic accuracy of the 2012 SLICC and 2019 EULAR/ACR criteria in Chinese cSLE patients and aimed to develop an optimized classification schema based on the 2019 EULAR/ACR criteria, specifically tailored for cSLE.

Methods: Data from cSLE and control cases were extracted from the CAPRID database. Gold-standard diagnosis were established by consensus among 43 rheumatologists (≥80% agreement).

UBE2D1 as a key biomarker in systemic juvenile idiopathic arthritis: a new perspective on diagnosis and disease activity assessment.

Background: Early diagnosis is crucial for reducing disability and improving long-term prognosis in patients with systemic Juvenile Idiopathic Arthritis (sJIA), but it remains a significant challenge. This study aims to identify non-invasive biomarkers with superior diagnostic efficacy for sJIA.

Methods: To predict early potential biomarker candidates and pathogenic mechanisms for sJIA, we performed scRNA-seq and Bulk RNA-seq on PBMCs from the Chinese sJIA cohort.

Single-cell landscape of immunological responses in patients with juvenile idiopathic arthritis.

The study aimed to analyze the single-cell transcriptomes of immune cells in juvenile idiopathic arthritis (JIA) patients to understand the cellular heterogeneity within the immune system. Peripheral blood samples from fourteen JIA patients and four healthy individuals were subjected to single-cell RNA sequencing. Various subtypes of JIA were included in the patient cohort.

Albumin and Gamma-Glutamyl Transferase as Biomarkers for Differentiating Systemic Juvenile Idiopathic Arthritis from Reactive Arthritis.

Objective: Systemic juvenile idiopathic arthritis (sJIA) and reactive arthritis (ReA) share overlapping clinical features, posing diagnostic challenges. Early differentiation is critical for treatment decisions but lacks reliable biomarkers. This study aims to identify simple clinical indicators and develop a clinical prediction model to distinguish sJIA from ReA.

Context-modulating effect on processing scientific metaphors: Evidence from ERPs.

Previous event-related potential (ERP) studies have demonstrated the neural specificity of cognitive processing mechanisms in scientific metaphors. This property makes semantic retrieval and extraction more difficult compared to conventional metaphors. However, the role of context in modulating the comprehension of scientific metaphors remains unclear, and there has been no analysis or categorization of abstract and difficult scientific metaphors.

Effectiveness of Restoration Strategies for Posterior Missing Teeth With Dental Implants: A Retrospective Study.

Aim: This study aimed to assess the effectiveness of a treatment strategy involving only implant restoration of the first molars (M1s) in cases where both M1s and second molars (M2s) lost.

Materials And Methods: A retrospective study design compared two groups: one underwent simultaneous implant restoration of both M1s and M2s (Group 1), while the other underwent restoration of only M1s (Group 2). Statistical models were used to evaluate implant survival, complication-free survival rates, cumulative treatment costs, peri-implant conditions, and patient-reported outcomes (PROMs).

Disease activity and treatment in patients with juvenile idiopathic arthritis before transfer to adult care: the first survey in China.

Objectives: To analyze disease activity and treatment in patients with juvenile idiopathic arthritis (JIA) before transfer to adult care.

Methods: We retrospectively collected the clinical data of 230 JIA patients (range 14-18 years) in our center from January 2013 to December 2022. We evaluated the clinical features, disease activity, and medication use across various JIA subtypes.

Preclinical IL2RG gene therapy using autologous hematopoietic stem cells as an effective and safe treatment for X-linked severe combined immunodeficiency disease.

X-linked severe combined immunodeficiency disease (X-SCID) is a rare inherited disease caused by mutations in the interleukin 2 receptor subunit gamma gene (), which encodes the common γ chain protein, a subunit of the receptor for lymphocytes. X-SCID is characterized by profound defects in T-cell, B-cell, and natural killer cell function. Here, we report a Chinese cohort of nine X-SCID patients with six novel mutations.

Novel Clean-Background Coffee Ring SERS Platform for Trace Toxin Analysis.

Biotoxins, known for their ubiquity and potent toxicity, pose significant threats to ecosystems and human health, highlighting the urgency the development of robust detection methods. Despite the significant potential of surface-enhanced Raman spectroscopy (SERS) in analytical science, challenges emerge when dealing with low Raman active molecules, such as biotoxins. Our study addresses this by introducing an innovative, ultrasensitive, clean-background coffee ring SERS (CC-SERS) platform, specifically designed for the detection of neo-saxitoxin (neo-STX), saxitoxin (STX), microcystin-LR (MC-LR), and microcystin-RR (MC-RR) using the AgNPs@AgO@AgCl coffee rings.

Radiopharmaceuticals in Nasopharyngeal Cancer.

Nasopharyngeal carcinoma (NPC) is a prevalent malignant epithelial tumor and epidemic in East and Southeast Asia. The pathology of NPC was characterized by local infiltration early, regional nodal involvement and distant metastases. The specialty of pathological sites makes it hard to early diagnosis, which relies on multiple imaging techniques (MRI, CT scans, and endoscopy) and biopsy.

Therapeutic and hepatoprotective effect of tocilizumab combined with total glycosides of peony in systemic juvenile idiopathic arthritis.

This retrospective observational study aimed to evaluate the effectiveness and hepatoprotective effects of combination therapy with tocilizumab (TCZ) and total glycosides of peony (TGP) in treating systemic juvenile idiopathic arthritis (sJIA). Among the 119 sJIA patients enrolled, 49 received TCZ combined with TGP (study group) and 70 received TCZ not combined with TGP (control group). We compared clinical characteristics, 5 liver function indices (alanine aminotransferase [ALT]/aspartate aminotransferase [AST]/alkaline phosphatase/γ-glutamyltransferase/total bilirubin), transaminase (ALT/AST) Kaplan-Meier curves, and inflammatory indices between the groups.

A three-in-one strategy of molecularly imprinted polymers-based electrochemical SERS for sensitive detection of acetamiprid in vegetables.

Selectively trapping analytes in complex matrices to hotspots and performing sensitive detection is an extremely important topic in surface-enhanced Raman spectroscopy (SERS) detection. Herein, a molecularly imprinted polymers-based electrochemical SERS (MIP-EC-SERS) sensor was proposed for detecting acetamiprid (AAP) residue. A polydopamine layer rich in imprinted cavities was fabricated on the surface of AuNPs/ITO, using an electropolymerization process, yielding a SERS substrate modified with MIP (MIP/AuNPs/ITO).

X-linked Deficiency in ELF4 in Females with Skewed X Chromosome Inactivation.

Deficiency in ELF4, X-linked (DEX) is a newly identified monogenic autoinflammatory disease. Most reported cases are male, leading to the recognition of DEX being primarily limited to male patients. Here we described 3 pediatric female patients with DEX from 3 unrelated families, who are all heterozygous for ELF4 mutations (c.

Corrigendum: Heterogeneous phenotype of a Chinese Familial WHIM syndrome with CXCR4 gain-of-function mutation.

[This corrects the article DOI: 10.3389/fimmu.2024.

Advances and Future Trends in Nanozyme-Based SERS Sensors for Food Safety, Environmental and Biomedical Applications.

Nanozymes, a kind of nanoparticles with enzyme-mimicking activities, have attracted considerable attention due to their robust catalytic properties, ease of preparation, and resistance to harsh conditions. By combining nanozymes with surface-enhanced Raman spectroscopy (SERS) technology, highly sensitive and selective sensors have been developed. These sensors are capable of detecting a wide range of analytes, such as foodborne toxins, environmental pollutants, and biomedical markers.

Machine Learning-Assisted High-Throughput Screening of Nanozymes for Ulcerative Colitis.

Ulcerative colitis (UC) is a chronic gastrointestinal inflammatory disorder with rising prevalence. Due to the recurrent and difficult-to-treat nature of UC symptoms, current pharmacological treatments fail to meet patients' expectations. This study presents a machine learning-assisted high-throughput screening strategy to expedite the discovery of efficient nanozymes for UC treatment.