Lowe Syndrome (LS) is a rare X-linked multisystemic disorder syndrome, which can be caused by the gene mutations of OCRL. In present study, the urine cells (UCs) derived from a 12-year-old male LS patient with the hemizygote OCRL gene mutation p.M876N (c.2626dupA) were reprogrammed into induced pluripotent stem cells (iPSCs) named WMUi031-A through the commercial Sendai virus reprogramming kit. The pluripotent markers OCT4 and SOX2 can be expressed positively in WMUi031-A, which can be differentiated into three germ layers in vitro as well as maintain a stable karyotype (46, XY).

Human induced pluripotent stem (iPS) cells expressing Cas9 protein are valuable for the pathogenic mechanism study and drug discovery. These cells can be efficiently induced to differentiate into disease cell models with specific mutations through adding designed sgRNAs. Here, we generated a human gene-editable iPS cell line by gene editing method that Cas9 gene driven by Tet-on operator was perfectly integrated into the human AAVS1 safe harbor locus. The established Cas9 expression iPS cell line named as WMUi013-A can express endogenous pluripotent markers, has the ability to differentiate into the three germ layers, and possesses a normal karyotype.

95% of the body's testosterone is produced by the Leydig Cells (LCs) in adult testis, and LC functional degradation can cause testosterone deficiency ultimately leading towards hypogonadism. The transplantation of LCs derived from stem cells is a very promising therapy to overcome the testosterone deficiency. The isolated umbilical cord mesenchymal stem cells (UMSCs) were identified by flow cytometry and adipogenic and osteogenic differentiation. Western blotting and reverse transcription polymerase chain reaction (RT-PCR) were used for the differentiated Leydig-like cell identification. The comparisons of the testosterone levels, gene expression levels, and cyclic adenosine monophosphate (cAMP) productions were performed through radioimmunoassay, quantitative polymerase chain reaction (qPCR), and cAMP assay kit, respectively. Here, it is stated that our isolated human UMSCs, which could positively express CD29, CD44, CD59, CD90, CD105, and CD166 but negatively express CD34 as well as could be differentiated into adipocytes and osteocytes, could be differentiated into Leydig-like cells (UMSC-LCs) using a novel differentiation method based on molecular compounds. The enrichment UMSC-LCs could secrete testosterone into the medium supernatant and produce considerable cAMP at the stimulation of luteinizing hormone (LH), and positively expressed LC lineage-typical markers LHCGR, SCARB1, SATR, CYP11A1, CYP17A1, HSD3B1, HSD17B3, and SF-1 as well as negatively expressed mesenchymal stem cell typical markers CD29, CD44, and CD105. The expression levels of NR3C4, PDGFRA, and NR3A1 in UMSC-LCs were higher than those of UMSCs and were comparable with LCs. These results illuminated that UMSCs could be differentiated into Leydig-like cells using the defined molecular compounds, which might further support MSC-derived Leydig cell transplantation therapy for testosterone insufficiency.

Human urine cells from a 6-year-old male X-linked Barth syndrome patient harboring a TAZ frameshift (c.517delG, Xq28) were reprogrammed into the induced pluripotent stem cell (iPSC) line WMUi002-A using non-integration CytoTune®-iPS 2.0 Sendai Virus Reprogramming kit, including four well-known Yamanaka factors SOX2, OCT4, KLF4, and c-MYC. The established patient-derived iPSC expressed endogenous pluripotent markers, had the potential to differentiate into all of the three germ layers, and displayed a normal karyotype.

Objective To summarize retrospectively the manifestation types of nail deformities after Bilhaut-Cloquet (BC) procedure for polydactyly deformity and its influence on aesthetic evaluation.Methods From January 2005 to December 2015,84 patients (88 thumbs) were treated with BC.According to the Wassel classification,3 case was type Ⅰ,20 were type Ⅱ,12 were type Ⅲ,33 were type Ⅳ,6 were type Ⅵ,10 were type Ⅶ.The shape,width,flamess,semilunar and fold shape of reconstructed nails were observed and classified after the operation.The aesthetic effect of the reconstructed nails was evaluated by the modified Wang-Gao score.Results The follow-up period ranged from 6 to 128 months,with an average of 34.4 months.Among them,abnormal flatness of the reconstructed nails occurred in 51 thumbs (57.95％),nail semilunar deformity in 27 fingers (30.68％),nail fold deformity in 22 fingers (25.00％),abnormal nail width in 16 fingers (18.18％) and abnormal nail shape in 7 fingers (7.95％).Acoording to the modified Wang-Gao score,the score was 2 to 12 points with an average of 9.18 points.Among them,the results were rated as excellent in 58 fingers,good in 23 fingers,fair 5 fingers and poor in 2 fingers,with the excellent and good rate being 92.05％.Conclusion The application of BC procedure for correction of polydactyly deformity has a definite effect on the improvement of finger volume and nail width.The deformities may occur in all the nail stmctuwal units requiring reconstruction,and manifestations are diverse,mainly mild deformities.More than three structural unit deformities are the main cause of dissatisfaction of patients or their families,but the incidence is not high.Therefore,BC procedure is still an option for dysplastic polydactyly deformity.

OBJECTIVETo investigate the effectiveness of dorsal pentagonal flap for reconstruction of the web space in congenital toe syndactyly.METHODSBetween January 2009 and June 2014, 10 patients with congenital toe syndactyly were treated for web space reconstruction with dorsal pentagonal flap. There were 6 boys and 4 girls with the average age of 42 months (range, 8 months to 9 years). The congenital toe syndactyly located at the left foot in 5 cases, the right foot in 4 cases, and both feet in 1 case; 7 patients had polydactyly and 1 patient had brachydactylia. During follow-up, the toe function and web space appearance, web space depth, and web space gradient were observed to evaluate the effectiveness.RESULTSAll 13 flaps survived and incisions healed by first intention. Ten patients were followed up 6-50 months (mean, 26 months). The skin color and texture in 13 reconstructed web spaces were close to normal web space. in 9 patients undergoing web spaces reconstruction of single foot, the abduction angle of toes was (42.879±3.703) at the injured side, showing no significant difference when compared with the normal side [(45.922±2.657)°] (t= -2.004, P=0.062); the web space depth was (1.881±0.266) cm at the injured side and was (1.631±0.202) cm at the normal side, showing significant difference (t=2.248, P=0.039); and the web space gradient was (42.733±3.421)° at the injured side and was (41.189±5.593)° at the normal side, showing no significant difference (t=0.707, P=0.490). The web space appearance, web space depth, and web space gradient were close to those of the normal web space in 1 patient undergoing bilateral web spaces reconstruction.CONCLUSIONWeb space reconstruction with dorsal pentagonal flap is easy to perform with reliable blood supply and low re-operated rate. The cosmetic and functional results are satisfactory.