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).

Survival and acute osmoregulatory response of grass carp under salinity stress.

Inland saline waters, widely distributed globally, impose stringent constraints on aquaculture owing to their high osmotic pressure, preventing most aquatic organisms from surviving. As the most extensively farmed freshwater fish worldwide, the grass carp (Ctenopharyngodon idella) is confined to freshwater habitats. The adaptation of this species to saline aquaculture holds significant ecological and economic potential; however, the mechanisms underlying its osmotic regulation in hypersaline environments remain poorly understood.

The clinical phenotypes and therapeutic strategies for stiff skin syndrome: a case series with literature review.

Background: Stiff skin syndrome (SSS) is a rare, non-inflammatory skin disease with a pronounced restriction in joint mobility. In this study, we aim to report Chinese pediatric patients with SSS in our center and summarize the clinical features of the disease through literature review.

Results: A retrospective study was conducted on 16 pediatric patients diagnosed with SSS at Peking Union Medical College Hospital between January 2014 and January 2024, based on clinical manifestations, laboratory tests, and skin biopsy findings.

Kearns-Sayre syndrome presenting with fanconi syndrome: a case report.

Background: Kearns-Sayre syndrome (KSS) is a mitochondrial genetic disorder characterized by progressive external ophthalmoplegia, short stature, atrioventricular block, and proximal renal tubular dysfunction. While Fanconi syndrome is a recognized renal manifestation of KSS, it is rare as the initial presenting feature. This report describes the clinical and genetic features of a child with KSS who initially presented with Fanconi syndrome.

Dietary Supplementation with Whole-Fat or Defatted Antarctic Krill Powder Improves the Growth Performance, Body Coloration, and Immune Capability of Red-White Koi Carp ( var. koi).

This study was conducted to investigate the effects of replacing fish meal with either whole-fat or defatted krill powder on the growth, body color, immunity, and related gene expression of red-white koi carp. A total of 630 red-white koi carp with an initial body mass of 13.5 ± 0.

Genetic diversity analysis and DNA fingerprinting of different populations of largemouth bass (Micropterus salmoides) in China with fluorescence-labeled microsatellite markers.

Background: Largemouth bass (Micropterus salmoides, LMB) is an economic fish in China, which has developed into many different cultured populations in the past decades. These populations exhibit different growth rates, morphological traits, stress resistance, and genetic diversity. Analyzing genetic diversity and molecular identification of these populations is crucial for conserving and utilizing germplasm resources, as well as for breeding new varieties.

Application of the Scleroderma Clinical Trials Consortium Damage Index in patients with juvenile systemic sclerosis.

Background: Juvenile systemic sclerosis (jSSc) can lead to permanent and irreversible anatomical or physiological dysfunction. The Scleroderma Clinical Trials Consortium-Damage Index (SCTC-DI), which has been employed and validated in adult patients, can quantify organ damage and predict mortality and morbidity. However, its application in paediatric patients remains unexplored.

Osmoregulation and Physiological Response of Largemouth Bass () Juvenile to Different Salinity Stresses.

The distribution of saline-alkali water is extensive and is increasing globally each year. Fully utilizing saline-alkali water for aquaculture can help alleviate the scarcity of freshwater resources in global fisheries. As a major economic fish species, the largemouth bass () holds significant potential for aquaculture in saline-alkali water.

RNA-Seq Reveals Adaptation Strategy in Grass Carp () Under Hypersaline Conditions.

Grass carp () is a key aquaculture species, and understanding its adaptation mechanisms to saline environments is crucial for addressing the global freshwater salinization challenge. In this study, juvenile grass carp were acclimated to three salinity levels (0, 4, and 8 ppt) for 30 days, after which gill and intestinal tissues were sampled to quantify cortisol concentrations and conduct RNA-seq. Results showed that cortisol levels exhibited a salinity-dependent increase, with significantly higher concentrations in gill tissues than in intestinal tissues, suggesting that cortisol plays an important role in the salt adaptation of grass carp.

Draft genome assembly of the largemouth bass (Micropterus salmoides).

Objective: Largemouth bass (Micropterus salmoides, LMB) is an important species in aquaculture, and the annual production is rapidly increasing. Genetic and breeding studies related to LMB have promising applications, and a high-quality genome assembly is essential for interpreting genetic and sequencing data. In this study, we sequenced the genome of a male LMB using the PacBio Sequel platform, high-throughput chromosome conformation capture (Hi-C), and paired-end Illumina sequencing.

A novel STING1-activating mutation is identified in a patient with childhood-onset systemic lupus erythematosus.

Gain-of-function variants in stimulator of interferon genes (STING1) are known to cause STING-associated vasculopathy with onset in infancy (SAVI), a disorder characterized by cutaneous vasculopathy, interstitial lung disease (ILD), and systemic inflammation. Here, we report a novel STING1 N188H variant in a patient who met the classification criteria for systemic lupus erythematosus (SLE) but lacked typical SAVI features. In vitro assays demonstrated that the N188H variant drives constitutive STING activation and enhances type I interferon signaling.

Clinical and Laboratory Risk Factors of Early Poor Outcome in Patients With Childhood-Onset Lupus Nephritis-A Single-Center Retrospective Study.

Objective: Childhood-onset lupus nephritis (LN) tends to be more severe than in adults. A significant correlation between remission at 3 months of induction therapy and remission after 3 years was found in adults. While few studies on the risk factors of poor early prognosis in children with LN were made.

Somatic gain-of-function mutation in TLR7 causes early-onset systemic lupus erythematosus.

Objectives: We identified a case of early-onset systemic lupus erythematosus (SLE) characterised by acute immune thrombocytopenia, recurrent fever, pneumonia, myocardial damage, thyroid dysfunction, lymphadenopathy, hepatosplenomegaly, and intracranial calcification. Our objective was to investigate the genetic and molecular mechanisms underlying the disease.

Methods: Whole exome sequencing and targeted sequencing were performed and a somatic mutation in TLR7 was identified.

The efficacy of hydroxychloroquine in paediatric chronic immune thrombocytopenia: A retrospective cohort study.

Aims: Research on hydroxychloroquine (HCQ) for children with chronic immune thrombocytopenia (ITP) is limited. The association between antinuclear antibody (ANA) positivity and its efficacy remains unclear.

Methods: This retrospective cohort study compared the clinical characteristics of children with chronic ITP who received HCQ with those who did not, as well as patients who responded to HCQ at 3 months with those who did not.

A diagnostic signatures for intervertebral disc degeneration using TNFAIP6 and COL6A2 based on single-cell RNA-seq and bulk RNA-seq analyses.

Objectives: Intervertebral disc degeneration (IVDD) is a prevalent degenerative condition associated with a high incidence rate of low back pain and disability. This study aimed to identify potential biomarkers and signaling pathways associated with IVDD.

Methods: Biomarkers were discerned through bulk-RNA and single-cell RNA sequencing (scRNA-Seq) investigations of IVDD cases from the Gene Expression Omnibus (GEO) database.

Chronic heat stress is capable of reducing the growth performance, causing damage to the liver structure, and altering the liver glucose metabolism and lipid metabolism in largemouth bass (Micropterus salmoides L.).

High temperatures cause abnormal energy metabolism and inhibit the growth of fish in aquaculture. However, the mechanism of energy metabolism under chronic heat stress is still unknown. In this study, largemouth bass (Micropterus salmoides, LMB) was treated with 25℃, 29℃, and 33℃ for 8 weeks.

Sex influences on hippocampal kindling-induced seizures in middle-aged mice.

Epilepsy is a chronic neurological disorder, and its prevalence presents a bimodal distribution with high incidences in children and older adults. The incidence of epilepsy does not generally differ between men and women; however, whether this holds true for new-onset epilepsy in older adults is unclear. While studies in animal models of epilepsy may help explore the biological mechanisms relevant to the influences of sex on epileptogenesis, relatively little information is available regarding sex differences in the genesis of epileptic seizures in middle-aged animals.

Effects of short-term salt exposure on gill damage, serum components and gene expression patterns in juvenile Largemouth bass (Micropterus salmoides).

The Largemouth bass (Micropterus salmoides; LMB) is a freshwater fish that plays a significant role in aquaculture, and its cultural base is expanding into inland saline water areas. To study the effect of short-term salt exposure on LMB, fish with an average body weight of 11.69 (±1.

Effects of 17α-methyltestosterone and letrozole on growth and gonadal development in largemouth bass ().

In order to optimize the parameters for reversing masculinization and establish the techniques for sex induction of pseudo-males and creation of all-female fry in largemouth bass (, LMB), 15-day-old LMB (1.00 ± 0.10 cm in length, 0.

Childhood-onset systemic lupus erythematosus in China, 2016-21: a nationwide study.

Background: Childhood-onset systemic lupus erythematosus (SLE) is a complex autoimmune disorder that can lead to serious organ damage. Despite the prevalence of SLE among children in Asian countries, treatment guidelines, prognosis, and clinical decision making for children with SLE are limited by gaps in region-specific epidemiological data. The aim of this study was to analyse epidemiological characteristics of childhood-onset SLE and associated organ involvement and in-hospital mortality in China.