Objective To elucidate the effect of ex vivo expansion of umbilical cord blood (UCB) mononuclear cells (MNCs) on their implantation capability and the hematopoietic reconstitution, and to find a feasible way of applying ex vivo expanded UCB MNCs to clinical transplantation.Methods UCB MNCs were cultured in short-term in serum-free medium with different early acting cytokines combinations in order to observe the amplification result and cells apoptotic difference. The 6-day expanded cells were transplanted into sublethally irradiated NOD/SCID mice to assess the implantation and the hematopoietic reconstitution of the survival mice.Results UCB MNCs reached the best amplification result between day 6 and day 10 with the contribution of SCF, FL, IL-6 and IL-3 in common and the presence of Annxin V on the surface of cells obviously decreased. Six weeks after transplantation, CD45, CD34, CD33, CD3 and CD19 antigen could be detected by FCM on BM, spleen and thymus cells of the alive mice and the human specific Alu and Cart-Ⅰ repetitive sequence could be detected in the DNA obtained from peripheral blood by PCR.Conclusion After 6-day effective expanding with SCF+FL+IL-6+IL-3 UCB MNCs can be implanted into NOD/SCID mice successfully and contribute to reconstitute the multiple hematopoiesis.

Objective To investigate the clinical manifestations and genetic features of children with papillorenal syndrome caused by PAX2 gene mutation.Methods Clinical manifestations,imaging changes and sequencing data were collected and analyzed from a family with papillorenal syndrome who were diagnosed in Wuhan Children's Hospital in February 2018."PAX2","papillorenal syndrome" and "renal coloboma syndrome" were used as key words to search in China National Knowledge Infrastructure,Wangfang Data Knowledge Service Platform,PubMed and Human Gene Mutation Database up to April 2018.Results A ten years old girl was admitted due to "edema and urine output decreased for one week".Lab showed BUN 25.30 mmol/L,Scr 766.5 μmol/L,Urine protein 3.6 g/24 h.Imaging examination showed bilateral vesical and ureter reflux combined with left duplex kidney and duplication of ureter.Developmental dysplasia of the left hip was also found.The father of the patient had been diagnosed with chronic kidney disease for 10 years and on hemodialysis for 6 years.Next generation sequencing revealed that both the father and daughter carried a heterozygous nonsense mutation in the exon3 c.219C ＞ G(p.Y73X) of PAX2.No Chinese literature ever was reported about papillorenal syndrome.Ninety-four articles in English were retrieved and 177 patients with papillorenal syndrome were confirmed by gene analysis with a total of 92 PAX2 variants.Ten nonsense mutations had been reported.Developmental dysplasia of the hip (DDH) never be reported before.Conclusion Papillorenal syndrome caused by PAX2 mutation can mainly manifest as abnormal development of both kidney and optic nerve,which may be accompanied by other systemic abnormalities,it is rarely reported in China.DDH may be a new phenotype of papillorenal syndrome.