OBJECTIVE: To analyze the molecular genetics of a Chinese pedigree with congenital hand foot cleft. METHODS: Single nucleotide polymorphism microarray (SNP array) was used to analyze the whole genome copy number variation. RESULTS: SNP array analysis showed that there was a 433 kb repeat in 10q24.31-10q24.32 region, which contained LBX1, BTRC, POLL, OPCD and FBXW4 genes. CONCLUSION Microduplication of chromosome 10q24.31-10q24.32 may be the cause of congenital hand foot cleft in this pedigree.
China ; DNA Copy Number Variations/genetics* ; Foot Deformities, Congenital/genetics* ; Hand Deformities, Congenital/genetics* ; Humans ; Pedigree

Objective:To explore the relationship between anti-human leukocyte antigen (HLA) antibodies and transplant outcomes in patients with hematological diseases who underwent matched sibling donor transplantation (MSDT).Methods:A retrospective analysis was conducted in 168 patients with hematological diseases who received MSDT in Peking University People's Hospital from March 2015 to November 2017. All patients received detection of anti-HLA antibodies before transplantation, and the correlation between anti-HLA antibodies and transplant outcomes such as hematopoietic cells implantation, blood product transfusion and prognosis after transplantation were analyzed.Results:Among the 168 patients, 28 (16.7%) were positive for anti-HLA class Ⅰ or class Ⅱ antibodies, and 14 (8.3%) were positive for both anti-HLA class Ⅰ and class Ⅱ antibodies. All patients received neutrophil engraftment, 164 patients (97.9%) received platelet engraftment. Univariate analysis showed that there were no effects of anti-HLA antibodies on neutrophil engraftment and engraftment time, platelet engraftment and engraftment time, the volume of red cell transfusion, the volume of platelet transfusion, overall survival (OS) rate, disease free survival (DFS) rate and transplant-related mortality (TRM) in patients with hematological diseases underwent MSDT (all P > 0.05). Multivariate analysis showed that platelet engraftment was associated with better OS ( HR=0.065, 95% CI 0.017-0.252, P < 0.01), better DFS ( HR=0.083, 95% CI 0.024-0.289, P < 0.01) and lower TRM ( HR=0.094, 95% CI 0.014-0.626, P=0.015). Conclusion:Anti-HLA antibodies have no effect on transplant outcomes of patients with hematological diseases who have received MSDT.

Objective To investigate the expression of miRNA associated with hepatic fibrosis induced by Schistosoma ja-ponicum soluble egg antigen stimulation in mouse hepatocytes(AML12),so as to lay the foundation for clarifying the mecha-nism of schistosome infection leading to hepatic fibrosis. Methods The expressions of miR-122,miR-182,miR-23b,miR-27b and KSRP in AML12 cells treated with SEA were measured by q-PCR. KSRP protein in cell lyses was measured by Western blotting. AML12 cells were transfected with miR-27b precursor or anti-miR-27b for 24 h,then q-PCR was adopted to determine KSRP mRNA,and KSRP protein was detected by Western blotting. Results The expressions of miR-182,miR-23b and miR-27b were decreased and miR-122 was increased in AML12 cells following SEA treatment(all P<0.05). An increase of mRNA and protein of KSRP expression was also observed in AML12 cells after SEA stimulation(both P<0.05). In addition,KSRP mRNA expression was not changed significantly in AML12 cells transfected with anti-miR-27b or miR-27b precursor,and miR-27b precursor reduced KSRP protein expression as compared with the control. In contrast,the expression of KSRP protein was increased in the anti-miR-27b group and decreased in the miR-27b precursor group. Conclusions After the stimulation of SEA,the expressions of a variety of liver fibrosis-related miRNAs and KSRP change in murine hepatocytes,including miR-27b. And miR-27b can regulate the expression of KSRP. These findings might lay a foundation for further study on the molecular mechanism of fibrosis induced by schistosome infection.

Objective:To understand the condition of the antibacterial drug utilization and the effects of these drugs on the nosocomial infections.Methods:The data of 44 patients of the nosocomial infections were in entry and statistical analysis with a software of pharmacoepidemiology.Results:In 44 cases,the frequency of antibacterial administration was 88.64％ before nosocomial infections,31.86％ for preventive purposes and 33.63％ for unreasonable application.Moreover,the microbiological assay and drug sensitive test were not done in 95.5 ％ of the cases before antibacterials taken.The nosocomial infections mosdy occured in the patients who took the drugs for a long time,the gastrointestinal infections standing first on the list.In 8 risk factors of the nosocomial infections,the constitutive ratio and afterwards infection rate of the broadspectrum antibacterial utilization were 29.06 ％ and 3.93 ％,ranking the first and the seventh,respectively.Conclution:Antibacterials are empirically used in clinic for both prevention and treatment with less attention to the microbiological assay and the drug sensitive test.The administration of antibacterials is a protective factor,and one of the risk factors for the nosocomial infections,too.

Objective:To understand the condition of the antibacterial drug utilization and the effects of these drugs on the nosocomial infections.Methods:The data of 44 patients of the nosocomial infections were in entry and statistical analysis with a software of pharmacoepidemiology.Results:In 44 cases,the frequency of antibacterial administration was 88.64％ before nosocomial infections,31.86％ for preventive purposes and 33.63％ for unreasonable application.Moreover,the microbiological assay and drug sensitive test were not done in 95.5 ％ of the cases before antibacterials taken.The nosocomial infections mosdy occured in the patients who took the drugs for a long time,the gastrointestinal infections standing first on the list.In 8 risk factors of the nosocomial infections,the constitutive ratio and afterwards infection rate of the broadspectrum antibacterial utilization were 29.06 ％ and 3.93 ％,ranking the first and the seventh,respectively.Conclution:Antibacterials are empirically used in clinic for both prevention and treatment with less attention to the microbiological assay and the drug sensitive test.The administration of antibacterials is a protective factor,and one of the risk factors for the nosocomial infections,too.