Efficacy of initial combination with belimumab in newly diagnosed childhood-onset lupus nephritis: a single-centre historical control study.

Objective: To explore the efficacy of initial treatment of newly diagnosed childhood-onset lupus nephritis (cLN) with combination of belimumab and either cyclophosphamide, mycophenolate mofetil, tacrolimus or multitargeted therapy.

Methods: A historical control study was conducted on children aged 5-17 years with newly diagnosed cLN. All patients recruited met the 2012 Systemic Lupus International Collaborating Clinics and/or 2019 European League Against Rheumatism/American College of Rheumatology classification criteria for SLE, and the 2003 International Society of Nephrology/Renal Pathology Society histopathological criteria for LN.

Juvenile dermatomyositis with central nervous system involvement: two case reports from a retrospective single-center cohort, with literature review.

Background: Juvenile dermatomyositis (JDM) is a systemic autoimmune disease primarily involving the muscles and skin; it can also affect the central nervous system (CNS). The relevant literature provides limited information regarding the characteristics of JDM with CNS involvement.

Method: We reviewed patients with JDM who were hospitalized at our center between January 2016 and August 2023, with a focus on those with CNS involvement.

Severe gastrointestinal involvement in pediatric IgA vasculitis: a retrospective single-center cohort study in China.

Objectives: The study aimed to describe the characteristics of gastrointestinal (GI) involvement in a cohort of hospitalized children with IgA vasculitis (IgAV) in China.

Method: We reviewed the records of hospitalized IgAV patients from January 2014 to December 2020 at one tertiary medical center. The patients were divided into the severe GI group and the non-severe GI group according to the presence of massive GI bleeding and complications.

A Chinese girl of Blau syndrome with renal arteritis and a literature review.

Background: Blau syndrome is a rare autoinflammatory disease caused by autosomal dominant mutations in the CARD15/NOD2 gene. Vascular involvement is a rare phenotype in Blau syndrome patients. In this study, we aimed to describe a 20-year- old Chinese girl with Blau syndrome complicated by renal arteritis.

Childhood-onset primary Sjögren's syndrome in a tertiary center in China: clinical features and outcome.

Objectives: To characterize the clinical features and outcomes of childhood-onset primary Sjögren's syndrome (pSS).

Methods: Patients less than 18 years old who were diagnosed with pSS by paediatric rheumatologists were included, and all patients were applied the 2002 American-European Consensus Group (ACEG) criteria, the 2016 American College of Rheumatology/European League Against Rheumatism (ACR/EULAR) criteria for pSS, or the 1999 proposed juvenile pSS criteria. The electronic medical records of patients with pSS from 2013 to 2020 were collected and analysed.

Identification of lncRNA expression profiles in pediatric localized scleroderma.

The role and potential molecular mechanism of inflammatory cells in pediatric localized scleroderma are poorly investigated. In this study, we first investigated the profiling of inflammatory cells in skin samples from pediatric localized scleroderma. Among them, CD4+ T-cells were up-regulated.

Urine Screening and 9 Years' Medical Record System Follow-Up Among School Students in Wenzhou, China.

School urinary screening programming can be useful for the early detection of renal and urinary disorders. However, urine screening is not included in the school health check-up in our region. Therefore, from February 2012 to March 2021, 12,497 school students were screened for urinalysis, and a long-term follow-up took place an electronic medical record system.

Safety and efficacy of telitacicept in refractory childhood-onset systemic lupus erythematosus: A self-controlled before-after trial.

Objective: To observe the efficacy and safety of telitacicept in refractory childhood-onset systemic lupus erythematosus (cSLE).

Methods: A self-controlled before-after trial. Children with active SLE, aged 5-18 years, who cannot tolerate side effects of glucocorticoid, were enrolled in our study.

Responsible genes in children with primary vesicoureteral reflux: findings from the Chinese Children Genetic Kidney Disease Database.

Background: Primary vesicoureteral reflux (VUR) is a common congenital anomaly of the kidney and urinary tract (CAKUT) in childhood. The present study identified the possible genetic contributions to primary VUR in children.

Methods: Patients with primary VUR were enrolled and analysed based on a national multi-center registration network (Chinese Children Genetic Kidney Disease Database, CCGKDD) that covered 23 different provinces/regions in China from 2014 to 2019.

mutation caused kidney hypoplasia and defective ureter-bladder connections in mice.

Limited genetic factors were uncovered for the development of congenital anomalies of the kidney and urinary tract (CAKUT). We previously reported that a Holliday junction resolvase was essential for early metanephric development in mice. This comprehensive follow-up study focused on the roles of in late metanephric development.

Exploration of postnatal integrated management for prenatal renal and urinary tract anomalies in China.

The aim of this prospective observational study was to establish a suitable model for the postnatal follow-up and management of prenatal renal and urinary tract anomalies in Shanghai, China. Minhang and Changning maternal child health care hospitals were selected to establish the integrated management model. Newborns with prenatal renal and urinary tract anomalies in these two centers were eligible to participate in the study from 2015 to 2017.

Early detection of congenital anomalies of the kidney and urinary tract: cross-sectional results of a community-based screening and referral study in China.

Objective: To establish an effective screening model of congenital anomalies of the kidney and urinary tract (CAKUT) using ultrasound among neonates in Shanghai, China.

Design: Cross-sectional study.

Setting: A three-level screening model for CAKUT in neonates based on the child healthcare system was established since 2010 in Minhang District, Shanghai, China.

Gen1 and Eme1 Play Redundant Roles in DNA Repair and Meiotic Recombination in Mice.

Resolution of the Holliday junction (HJ) is essential for homologous recombination and DNA repair. In Saccharomyces cerevisiae, HJ resolvase Yen1 and the Mus81-Mms4 complex are redundant in DNA damage repair. In cultured mammalian cells, such redundancy also exists between Yen1 ortholog GEN1 and the Mus81-Mms1 ortholog MUS81-EME1.

Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1.

Background: Primary hyperoxaluria type 1 is a rare autosomal recessive disease of glyoxylate metabolism caused by a defect in the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT) that leads to hyperoxaluria, recurrent urolithiasis, and nephrocalcinosis.

Methods: Two unrelated patients with recurrent urolithiasis, along with members of their families, exhibited mutations in the AGXT gene by PCR direct sequencing.

Results: Two heterozygous mutations that predict truncated proteins, p.