The DHODH inhibitor teriflunomide impedes cell proliferation and enhances chemosensitivity to daunorubicin (DNR) in T-cell acute lymphoblastic leukemia.

T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive hematological tumor that requires novel treatment strategies, especially for relapsed/refractory cases. Dihydroorotate dehydrogenase (DHODH), a key enzyme in the de novo pyrimidine synthesis pathway, has been identified as a potential target for tumors. Besides, Teriflunomide (TRF) is a DHODH inhibitor with anticancer effects; however, its role in T-ALL remains poorly understood.

[Leigh syndrome caused by the mitochondrial m.8993T>G mutation with hypocitrullinemia: a report of four cases and literature review].

Objectives: To explore early diagnostic biological markers for Leigh syndrome caused by the m.8993T>G mutation.

Methods: A retrospective analysis was performed on the clinical data of four children diagnosed with m.

Identification and Functional Analysis of a de novo IKZF3 Mutation in a Pediatric Patient with Combined Immunodeficiency.

AIOLOS, a vital member of the IKAROS protein family, plays a significant role in lymphocyte development and function through DNA binding and protein-protein interactions. Mutations in the IKZF3 gene, which encodes AIOLOS, lead to a rare combined immunodeficiency often linked with infections and malignancy. In this study, we evaluated a 1-year-4-month-old female patient presenting with recurrent infections, diarrhea, and failure to thrive.

Efficacy and safety of adjunctive perampanel treatment in pediatric patients with epilepsy aged 4-12 years: a real-world study.

Objective: To determine the efficacy and safety of perampanel (PER) as an adjunctive therapy in children aged 4-12 years with epilepsy.

Methods: We performed a non-randomized, open-label, placebo-uncontrolled, real-world self-controlled study that included 216 young children (aged 4-12 years) with epilepsy who received PER as adjunctive therapy at the children's hospital affiliated with Chongqing Medical University from July 4, 2020, to September 20, 2023.

Results: (1) The efficacy rates of adjunctive PER therapy at 3, 6, 9, and 12 months were 62.

Effect of physical activity on anxiety, depression and obesity index in children and adolescents with obesity: A meta-analysis.

For Full-length Articles: This study systematically identified the effects of physical activity (PA) on depression, anxiety and weight-related outcomes among children and adolescents with overweight/obesity. EMBASE, The Cochrane Library, Web of Science, and PubMed were searched from January 1, 2000 to August 1, 2022 for peer-reviewed papers. Meta-analyses were conducted to ascertain the effect of physical activity on symptoms of anxiety, depression and weight-related outcomes in overweight/obese children and adolescents.

Emergence of a clinical Salmonella enterica serovar 1,4,[5], 12: i:-isolate, ST3606, in China with susceptibility decrease to ceftazidime-avibactam carrying a novel bla variant and a bla.

Purpose: The detection rate of Salmonella enterica serovar 1,4,[5], 12: i: - (S. 1,4,[5], 12: i: -) has increased as the most common serotype globally. A S.

Caspase-8 dependent apoptosis contributes to dyskinesia caused by muscle defects and neurotoxicity in zebrafish exposed to zearalenone.

Zearalenone (ZEA), one of the usual mycotoxins, has been recognized in many areas and crops, posing a significant threat to the living organisms even to human beings. However, the mechanisms of locomotive defects remain unknown. Herein, zebrafish larvae was employed to investigate ZEA effects on developmental indexes, muscle and neural toxicity, apoptosis, transcriptome and motor behaviors of zebrafish larvae.

Ion channel TRPV2 is critical in enhancing B cell activation and function.

The function of transient receptor potential vanilloid (TRPV) cation channels governing B cell activation remains to be explored. We present evidence that TRPV2 is highly expressed in B cells and plays a crucial role in the formation of the B cell immunological synapse and B cell activation. Physiologically, TRPV2 expression level is positively correlated to influenza-specific antibody production and is low in newborns and seniors.

Can we preserve the necrotic testis caused by incarcerated inguinal hernia in infants under 3 months?

Purpose: This study aims to investigate whether necrotic testis resulting from incarcerated inguinal hernias can be preserved in infants under 3 months old.

Methods: A retrospective analysis was conducted on data collected from infants under 3 months old who had necrotic testis caused by incarcerated inguinal hernias between 2016 and 2020. They were divided into two groups: the orchiectomy group and the testicular preservation group.

A novel homozygous Y140X mutation of ISG15 causes diverse type I interferonopathies in sibling patients with cutaneous lesions or recurrent parenchymal pneumonia.

Purpose: Interferon-stimulated gene 15 (ISG15) deficiency, a rare human inborn error of immunity characterized by susceptibility to Bacillus Calmette-Guerin (BCG) diseases, neuropathic and dermatological manifestations.

Methods: The clinical and immunological features of two siblings with ISG15 deficiency combined with asymptomatic myeloperoxidase (MPO) mutations were analyzed, and their pathogenesis, as well as target therapeutic candidates, were explored.

Results: The manifestation in patient 2 was skin lesions, while those in patient 1 were intracranial calcification and recurrent pneumonia.

Clinical and electroencephalographic characteristics of 34 infant with onset of epileptic spasms before three months of age.

Epileptic spasms (ES) occur mostly between age 3 months and 24 months. ES beginning before 3 months of age were called early-onset ES in previous studies. The aim of this study was to identify clinical and electroencephalographic characteristics of patients with ES onset before 3 months of age.

PPARs at the crossroads of T cell differentiation and type 1 diabetes.

T-cell-mediated autoimmune type 1 diabetes (T1D) is characterized by the immune-mediated destruction of pancreatic beta cells (β-cells). The increasing prevalence of T1D poses significant challenges to the healthcare system, particularly in countries with struggling economies. This review paper highlights the multifaceted roles of Peroxisome Proliferator-Activated Receptors (PPARs) in the context of T1D, shedding light on their potential as regulators of immune responses and β-cell biology.

Hypoxia improves self-renew and migration of urine-derived stem cells by upregulating autophagy and mitochondrial function through ERK signal pathway.

Urine-derived stem cells (USCs) are autologous stem cells with self-renewal ability and multi-lineage differentiation potential. Our previous studies have shown that hypoxia preconditioning can improve self-renewal and migration abilities of USCs by up-regulating autophagy. The purpose of this study was to investigate the specific mechanism by which hypoxia treatment promotes the biological function of USCs.

Combination therapy of HIFα inhibitors and Treg depletion strengthen the anti-tumor immunity in mice.

Hypoxia-inducible factor 1 alpha (HIF1α), under hypoxic conditions, is known to play an oxygen sensor stabilizing role by exerting context- and cell-dependent stimulatory and inhibitory functions in immune cells. Nevertheless, how HIF1α regulates T cell differentiation and functions in tumor settings has not been elucidated. Herein, we demonstrated that T-cell-specific deletion of HIF1α improves the inflammatory potential and memory phenotype of CD8 T cells.

Evaluation of belimumab in treatment of Chinese childhood-onset systemic lupus erythematosus: a prospective analysis from a multicentre study.

Objective: The aim of this study is to identify whether low lupus disease activity status (LLDAS) and clinical remission (CR) of belimumab plus standard of care (SoC) therapy are achievable goals in childhood-onset SLE (cSLE).

Methods: This multicentre, one arm pre-post intervention study was conducted at 15 centres in China. The primary end point was to describe the proportion of patients who achieved LLDAS and CR after 3, 6 and 12 months after treatment with belimumab plus SoC therapy.

Vaccination against COVID-19 and potential protective effects on seizure recurrence in children with epilepsy: A cross-sectional survey.

Objective: Despite strong evidence on the safety and tolerability of the COVID-19 vaccine, data on vaccination in children with epilepsy, particular younger children with specific epilepsy syndromes, are limited. The protective effects of vaccination against seizure increase upon COVID-19 infection also remain to be elucidated.

Methods: Questionnaire surveys were distributed online via an established WeChat group for patient management as well as in our outpatient clinic.

Clinical characterization of epilepsy in children with chromosomal aberration 47, XXY.

Objective: The phenotype of the chromosomal aberration 47, XXY exhibits considerable heterogenicity. In addition, epilepsy is extremely uncommon in individuals with this chromosomal disorder. As a result, the clinical characteristics of epilepsy in these patients remain poorly understood.

Pparα knockout in mice increases the Th17 development by facilitating the IKKα/RORγt and IKKα/Foxp3 complexes.

The helper CD4 T cell-type 17 (Th17) cells and regulatory CD4 T cells (Tregs) are balanced through numerous molecular regulators, particularly metabolic factors, and their alteration causes immune dysregulation. Herein, we report that peroxisome proliferator of activated receptor-alpha (Pparα), a lipid metabolism regulator, suppresses Th17 differentiation. We demonstrated that Pparα ablation improves Th17 and pro-Th17 factor HIF-1α by enhancing the expression and nuclear localization of NFκB-activator IκB kinase-alpha (IKKα).

Clinical features of severe Mycoplasma pneumoniae pneumonia with pulmonary complications in childhood: A retrospective study.

Introduction: Incidence of severe M. pneumoniae pneumonia (SMPP) reported in China has been increasing over the last decade. We aimed to evaluate the clinical features of pediatric SMPP with pulmonary complications, according to laboratory tests and chest radiographic resolution patterns.

Serum total bile acid levels assist in the prediction of acute intussusception with abdominal type Henoch-Schonlein purpura in children.

Background: The severe acute abdomen associated with Henoch-Schonlein purpura (HSP) is an acute intussusception (AI). There is no reliable specific marker for AI with abdominal-type HSP. The serum total bile acid (TBA) level is a new prognostic marker associated with the severity of intestinal inflammation.

Multiple Immune Defects in Two Patients with Novel DOCK2 Mutations Result in Recurrent Multiple Infection Including Live Attenuated Virus Vaccine.

The dedicator of cytokinesis 2(DOCK2) protein, an atypical guanine nucleotide exchange factor (GEFs), is a member of the DOCKA protein subfamily. DOCK2 protein deficiency is characterized by early-onset lymphopenia, recurrent infections, and lymphocyte dysfunction, which was classified as combined immune deficiency with neutrophil abnormalities as well. The only cure is hematopoietic stem cell transplantation.

A Multicenter Cohort Study of Immune Dysregulation Disorders Caused by ELF4 Variants in China.

Patients with DEX (deficiency in ELF4, X-linked) were recently reported by our team and others, and cases are very limited worldwide. Our knowledge of this new disease is currently preliminary. In this study, we described 5 more cases presenting mainly with oral ulcer, inflammatory bowel disease-like symptoms, fever of unknown origin, anemia, or systemic lupus erythematosus.