Objective:To investigate the clinical effect of Ilizarov bone transport technique with assisted guiding pin in medullary cavity for treatment of posttraumatic bone defect of tibia.Methods:A retrospective case series study was conducted to analyze the clinical data of 17 patients with post-traumatic bone defect of tibia admitted to Third Hospital of Hebei Medical University form November 2014 to March 2018.There were 13 males and 4 females, aged 19-60 years [(37.2±13.4)years]. The bone defect length was 4.6-14.0 cm [(8.6±2.8)cm] after debridement. All patients underwent treatment with Ilizarov bone transport technique. The alignment of transport bone segment was controlled by a guiding pin in medullary cavity of tibia. Bone grafts were performed to accelerate fracture healing of docking point. The wound healing, bone healing, external fixation time, external fixation index (EFI), alignment recovery were recorded. Bone healing and functional results were evaluated according to the criteria given by Association for the Study and Application of the Method of Ilizarov (ASAMI). The complication was recorded according to Paley's criteria. The physical component summary score (PCS) and mental component summary score (MCS) ware recorded according to the MOS 36-item Short-form Health Survey (SF-36) questionnaire and compared with the national norm to evaluate the quality of life.Results:After removal of the apparatus, follow-up period was 12-37 months [(29.9±4.4)months]. Wound healing was achieved without flap transfer. At the latest follow-up, all patients achieved bone healing without recurrent infection. External fixation time was 242-801 days [(436.5±154.6)days] and external fixation index was 35.7-60.5 d/cm [(50.6±6.2)d/cm]. The affected extremity alignment was restored in all patients except for residual angular deformity in one patient. According to ASAMI, the excellent and good rate of bony results and functional results were 88% and 94%. According to Paley's criteria, complications included 12 problems, 7 obstacles and 1 sequelae. The PCS and MCS in SF-36 questionnaire were (85.8±11.6)points and (69.6±11.1)points. Compared with the national norm [PCS: (87.6±16.8)points, MCS: (78.8±15.4)points], PCS showed no statistical difference ( P>0.05), but MCS showed statistical difference ( P<0.05). Conclusions:Ilizarov bone transport combined with intramedullary guiding pin can accelerate wound and fracture healing, control infection and restore lower limb alignment. The physical function of the affected extremity can be restored in spite of some complications and psychological effects. The technique is an effective treatment for posttraumatic bone defect of tibia.

OBJECTIVE To optimize hematopoietic stem cell transplantation therapy and provide support for drug research by investigating the dynamic process of hematopoietic and immune system reconstitution after bone marrow transplantation(BMT)in mice.METHODS CD45.2+C57BL/6 mice were used as recipient mice and randomly divided into the normal control group and transplantation group,with 30 mice in each.The transplantation group was irradiated by a lethal dose of cobalt-60 rays.Bone marrow cells were prepared from CD45.1+C57BL/6 mice and transfused into recipient mice through the tail vein.Peripheral blood,spleens,lymph nodes,thymuses and bone marrow were collected at 1,2,4,8 and 16 weeks after transplantation.Blood routine examination was performed with peripheral blood and total cell numbers in suspensions of other organs were counted by an automated cell counter.Cell classification analysis of white blood cells in peripheral blood,cell suspensions of other organs was performed by flow cytometry.RESULTS Four weeks after BMT,the numbers of white blood cells and red blood cells in peripheral blood of recipient mice returned to the same level of or higher level than normal control(P<0.05).Although the number of platelets recovered significantly,it was still mark-edly lower than that of normal control until 16 weeks post BMT(P<0.05).In addition,the percentages of myeloid leukocytes and B cells in peripheral blood,spleens,lymph nodes,and bone marrow,as well as megakaryocytes and erythrocyte progenitor cells in bone marrow also returned to normal,and the majority of myeloid leukocytes and B cells were CD45.1+cells from the donors.Eight weeks after BMT,T cells in peripheral blood,spleens,lymph nodes,thymuses,and bone marrow of recipient mice returned to normal,and CD45.1+T cells were dominating.CONCLUSION The hematopoietic and immune reconstitution of recipient mice is nearly completed eight weeks after BMT.However,the reconstruction speed of different kinds of cells and the reconstruction status of same kind of cell in different organs vary widely.

Objective To investigate the effects of gemstone energy spectrum CT atomic number method and infrared spec-troscopy for analyzing the composition of urinary calculi and to compare their values in qualitative diagnosis of urinary calculi .Meth-ods Two hundreds and sixty cases of urinary tract stones were performed the gemstone spectrum CT urinary scanning and the stone composition was identified by atomic number method .After removing stone ,the stone composition analyzed by infrared spec-troscopy served as the gold standard .Then the consistency identified by the two methods was analyzed .Results The Kappa consis-tency test results showed that the two kinds of method for identifying stone type had good consistency (Kappa=0 .787 ,P<0 .01) . The paired chi square test results showed that the difference of the two methods for identifying the stone type had no statistical sig-nificance(χ2 =6 .581 ,P=0 .254) .The stone crystal composition types measured by gemstone energy spectrum CT atomic number method were less than those measured by infrared spectroscopy .The precise quantification of the stones with different crystal struc-tures was not as accurate as that of infrared spectroscopy (calcium oxalate monohydrate and calcium oxalate dihydrate ) .Conclusion The two methods for analyzing theurinary stone composition all have clinical significance ,the stone analysis method should be se-lected according to the actual situation .

Objective:To compare the genotypes and phenotypes between the monozygotic twins via whole genome sequencing to further clarify the autosomal dominant inherited neurofibromatosis type 1 (NF1) variants related to congenital pseudarthrosis (CP).Methods:According to the diagnostic criteria of congenital tibial pseudarthrosis and the clinical diagnostic criteria of NF1, two pairs of monozygotic twins with NF1 were included. Both were female and only one of each pair had congenital pseudarthrosis. The other did not have congenital pseudarthrosis. Whole genome sequencing was performed using the peripheral blood of the two pairs of monozygotic twins. Customized bioinformatics analysis was then performed to identify single nucleotide variants (SNVs), short insertion deletion variants (InDel), copy number variants (CNVs), and structural variants (SVs). Classified the variants according to the American College of Medical Genetics and Genomics (ACMG) and ClinGen criteria. The germline variants within the monozygotic twins were compared to identify the CP patients' unique variants. The shared pathogenic or likely pathogenic germline variants between the unique variants in the CP patients from the twins were also analyzed. Further, the identified disease-causing variants were validated by Sanger sequencing in the family of the twins and their parents. Finally, the genotypes and phenotypes regarding the pathogenic variants of the NF1 gene among the twins were characterized. Results:Both the two monozygotic twins were identified pathogenic variants in the NF1 gene. One with c.3047_3048del (p.Cys1016SerfsTer4), and the other with c.4267A>G (p.Lys1423Glu). By Sanger sequencing validation in family quads, the two CP patients and their siblings harbored de novo heterozygous variants of the NF1 gene. In addition to the NF1 gene, no other genes were identified pathogenic or likely pathogenic variants uniquely in the CP patients compared with their twin sisters, as well as SVs and CNVs. In addition, by analyzing the rare and damaging variants in the two CP patients from the two twins, they had no overlapping genes against the SNVs, InDels, SVs, or CNVs. Conclusion:Whole genome sequencing revealed that both the two monozygotic twins with NF1 were detected pathogenic variants of gene NF1. No other pathogenic variants specific to the CP patients among the twins were identified. The two CP patients shared no other common genes from the detected likely pathogenic variants.