Bone marrow-derived mesenchymal stem cells (MSCs) are key components of the hematopoietic microenvironment and provide support to hematopoiesis and modulate immune system. Several studies suggest that SLE may be seen as stem cell disorders. However, it is unclear that whether MSCs from SLE patients are defective. So in this research, we studied the biological character of bone marrow derived MSCs in patients with SLE, focused on their phenotype (morphology and immunophenotype), karyotype, cytokines expression and hematopoietic support of MSCs. Our results showed that MSCs from SLE patients and normal controls can be successfully culture-expanded, but the MSCs from SLE grew more slowly than those of normal controls (P < 0.05). Cells from both groups were positive for CD29, CD44 and CD105, and negative for CD14, CD34, CD45 and HLA-DR. MSCs from SLE have a normal karyotype. Both groups express IL-6, IL7, IL-11, macrophage colony stimulating factor (M-CSF) and stem cell factor (SCF) at mRNA level. While IL-6 and IL-7 were down-regulated in MSCs from SLE patient (P < 0.05) at mRNA level. The MSCs from SLE patients and normal controls were infused into ICR (Tac: Icr: Ha strain) mice after high-dose chemotherapy, with no adverse events in either group. Recovery of white blood cells, hemoglobin and platelet was more rapid (P < 0.05) compared with the group without MSCs infusion. We conclude that MSCs in patient with SLE have abnormalities compared with those in normal control. MSCs in patient with SLE may play an important role in the SLE pathogenesis.

To explore the approaches and diagnostic yield of genetic testing for renal disease in children, we describe the genotype and phenotype of the national cohort of children with renal disease from 13 different regions of China recruited from 2014 to 2018 by building up the multicenter registration system (Chinese Children Genetic Kidney Disease Database, CCGKDD). Genetic diagnosis was confirmed in 42.1% of our cohort of 1001 pediatric patients with clinical suspicion of a genetic renal disease. Of the 106 distinct monogenetic disorders detected, 15 accounted for 60.7% of genetic diagnoses. The diagnostic yield was 29.1% in steroid resistant nephritic syndrome (SRNS), 61.4% in cystic renal disease, 17.0% in congenital anomalies of the kidney and urinary tract (CAKUT), 62.3% in renal tubular disease/renal calcinosis, and 23.9% for chronic kidney disease (CKD) 3 to 5 stage with unknown origin. Genetic approaches of target gene sequence (TGS), singleton whole‐exome sequencing (WES) and trio‐WES were performed with diagnostic rates of 44.8%, 36.2%, and 42.6%, respectively. The early use of trio‐WES could improve the diagnostic rate especially in renal tubular disease and calcinosis. We report the genetic spectrum of Chinese children with renal disease. Establishment of the CCGKDD will improve the genetic work on renal disease.

Objective:To examine whether obesity/overweight is a risk predictor for breast cancer recurrence and death by menopausal status in a retrospective study.Methods:We performed a retrospective analysis of 1017 breast cancer patients treated in our hospital from January 2004 to December 2012. Three groups were divided according to body mass index (BMI) when breast cancer diagnosis: normal weight, BMI < 25.0 kg/m2; overweight, 25.0≤BMI < 30.0 kg/m2; and obesity, BMI≥30.0 kg/m2. The clinicopathological characteristics and clinical outcomes of patients within 5 years following breast cancer diagnosed were analyzed. Subgroup analyses of BMI on breast cancer prognosis were analyzed according to the menopausal status when breast cancer diagnosis. The Cox proportional hazards model was used to estimate hazard ratios (HRs) and 95% confidence intervals (CIs).Results:Overweight and obesity groups were associated with larger size tumors, older age, increased proportion of postmenopausal patients and less patients choosing anthracycline and/or taxane regimen. The 5-year disease-free survival (DFS) and overall survival (OS) decreased in overweight and obese patients (P < .001), and both overweight and obesity were independent predictors for increased risks of breast cancer relapse and death (P < .001). When stratified by menopausal status, both overweight and obesity were associated with reduced 5-year DFS and OS in postmenopausal patients (P < .050), and multivariate analysis showed that the risk of relapse and breast cancer mortality in these 2 groups also increased (P < .050). Among premenopausal patients, the risks of relapse and death were significantly increased in obesity group rather than overweight group by multivariate analysis.Conclusion:Overweight and obesity might be independently associated with poorer prognosis for breast cancer patients, and the effects of overweight on the breast cancer prognosis seem to be related to menopausal status.

Our results suggest that miR-196a2 polymorphism is not associated with both an increased risk and progression of CRC in Chinese.

Background The association between mutations in the TNFAIP3 gene and a new autoinflammatory disease (called A20 haploinsufficiency, HA20) has recently been recognized. Here, we describe four patients with HA20 from two unrelated Chinese families. Case presentation A total of four patients from two families were included. The average age at onset was 5.9 years. All patients had no signs of eye or skin problems, such as uveitis, rash, folliculitis and dermal abscess. Prior to the recognition of HA20, P1 was diagnosed with SLE, liver fibrosis and hypothyroidism. She also had no oral, genital or perineal ulcers. P2 was diagnosed with Crohn’s disease and inflammatory bowel disease-related arthritis (IBD-RA). He had a perianal abscess but no oral or genital ulcers. P3, the father of P1 and P2, only had mild oral ulcers, arthralgia, and archosyrinx. P4 was diagnosed with polyarticular juvenile idiopathic arthritis (JIA), macrophage activation syndrome (MAS) and interstitial lung disease (ILD). Whole exome sequencing (WES) was performed in two families. WES revealed heterozygous c.559C > T in the TNFAIP3 gene in P1, P2 and P3, while the c.259C > T mutation in the TNFAIP3 gene was identified in P4. The c.259C > T mutations is novel. Conclusion HA20 had a different phenotype between families and even between family members with the same mutation. Liver fibrosis, hypothyroidism, ILD and MAS in the patients with HA20 were first reported in this study. Our results expanded the phenotype and genotype spectrum of A20 haploinsufficiency. Electronic supplementary material The online version of this article (10.1186/s12881-019-0856-1) contains supplementary material, which is available to authorized users.