Heart Septal Defects, Atrial ; complications ; Humans ; Infant, Newborn ; Male ; Nasal Polyps ; complications ; congenital ; Nasopharyngeal Diseases ; complications ; congenital

Objective:To study the association between rs2235371,rs2013162,rs2235377 SNPs in interferon regulatory factor 6 (IRF6)gene and non-syndromic cleft lip with or without cleft palate(NSCL/P)in Xinjiang Uyghur population.Methods:100 Uyghur NSCL/P patients from Xinjiang were included in the case group and 60 Uyghur inpatients with upper respiratory tract infection were se-lected in the control group.Next,generation sequencing was used,DNA sequencing results were compared with the information on the genome database and genetic analysis were made.Results:There were no significant differences in the frequency distribution of both genotypes and alles when the cases were campared with the controls at the rs2235371,rs2013162 and rs2235377 loci(P >0.05). Above three loci were located in the same block,rs2235371 and rs2235377 loci presents the strong linkage disequilibrium(r2 =0.949, D'=0.974).Possible haplotypes were:CCT >CAT >TAC,and there was no significant difference between the cases and controls in haplotype distribution(P >0.05).Conclusion:Polymorphisms of rs2235371,rs2013162 and rs2235377 in IRF6 gene may be associ-ated with NSCL/P in Xinjiang Uygur people.

Objective To clone, express and purify human PIF1 protein and analyze its ATPase activity. Methods The PIF1 cDNA was amplified by PCR from HeLa cell cDNA library and inserted to pET24b with histidine tag at its terminus to form pET24b-PIF1 plasmid. The recombinant pET24b-PIF1 plasmid was transformed to RosettaTM 2 (DE3) and the expression of PIF1 protein was monitored by SDS-PAGE analysis. By using fast protein liquid chromatograph (FPLC) system, the PIF1 protein was purified by affinity chromatograph and gel filtration. The ATPase activity of PIF1 was checked by thin layer chromatograph(TLC). Results The PIF1 protein was successfully cloned and expressed in E.coli. Conclusions The purification procedure of PIF1 protein was established using FPLC. The overexpressed and the purified PIF1 helicase has DNA and Mg2+ dependent ATPase activity.

Objective To investigate the changes and the correlation between the levels of plasma lysophosphalidic acid(LPA),acid phospholipid(AP),low density lipoprotein(LDL) and carotid artery atherosclerosis in patients with acute cerebral infarction(ACI).Methods The levels of plasma LPA,AP and LDL were examined in 67 ACI patients and 30 normal controls,the carotid arteries were investigated with B mode ultrosand.Results The levels of plasma LPA,AP and LDL were higher in ACI group than those in the normal control group(all P

Objective:The aim of this study was to investigate the carrier ratio and the genotype of thalassemia among Tujia and Miao people of reproductive age in Chongqing.Methods:According to forward-looking design and multi-stage stratified cluster sampling method, fasting venous blood samples of Tujia and Miao people of reproductive age were collected from 11 survey sites in Chongqing from March to July 2019. Gap-PCR and high-throughput sequencing were used to screen thalassemia genes.Results:A total of 516 Tujia people (258 males, 258 females) and 270 Miao people (139 males, 131 females) were included in this study, and their age were (28.63 ± 5.26) and (28.62 ± 5.35) years, respectively. About 5.04% (26/516) Tujia people carried thalassemia gene, with 1.94% (10/516) and 2.52% (13/516) for α and β thalassemia, respectively. Three kinds of new variants (1 case of each variant), HBA 2: c.46G>A (Gly>Ser), HBB: c.*+129T>A and HBB: c.-39T>G with unclear pathogenicity, were identified in Tujia people. About 7.78% (21/270) Miao people carried thalassemia gene, among these, α and β thalassemia were 3.33% (9/270) and 4.44%(12/270), respectively. The most common mutation type of α-globin gene was -α 3.7/in the two ethnic groups. Three kinds of β-globin gene mutation types, Codons 41/42 (-TTCT) beta 0, Codon 17 (A>T) beta 0 and IVS-Ⅱ-654 (C>T) beta +, were the most common in Tujia people. Meanwhile, the chief β-globin gene mutation type was Codons 41/42 (-TTCT) beta 0 in Miao people. Conclusions:The carrying rate of thalassemia gene is higher in Tujia and Miao people in Chongqing, and the genotypes of thalassemia gene are different between Tujia and Miao people. The clinical significance of three kinds of new variants with unclear pathogenicity should be focused on.

Objective To evaluate effect of bone grafting combining with titanium mesh and/or reinforcement cup in reconstruction of acetabular bone defect in total hip arthroplasty (THA).Methods From January 2008 to November 2011,32 patients,including 23 males and 9 females,aged from 51 to 76 years (average,66 years),underwent THA with acetabular defect reconstruction by using bone grafting combining with titanium mesh and/or reinforcement cup.There were 6 cases of primary THA and 26 cases of revision THA.Twelve cases (Paprosky Ⅱ B) and 7 cases (Paprosky Ⅱ C) underwent impaction bone grafting with titanium mesh; 6 cases (Paprosky Ⅱ C) underwent impaction bone grafting with reinforcement cup; 6 cases (Paprosky Ⅲ A) underwent impaction bone grafting and structural bone grafting with winged reinforcement cup; 1 case (Paprosky Ⅲ A) underwent double-layer impaction bone grafting with titanium mesh and reinforcement cup.Harris score and Gill classification were used to evaluate clinical and radiological results,respectively.Results All cases (32 hips) were followed up for an average of 22 months (range,12 to 25months).One year postoperatively,Harris score improved from preoperative 44.00±11.71 to postoperative 78.41 ±9.32.Twenty-four cases were excellent,4 good,4 fair,and the excellent and good rate was 87.5％.Three cases occurred mild displacement of acetabular rotation center; one case occurred dislocation.There was no loosing,subsidence,and bone resorption in other 28 cases at final follow-up.ConcLusion Bone grafting with titanium mesh and/or reinforcement cup is effective in reconstruction of acetabular bone defect in THA,which can improve the stability of acetabular cup.

Objective To determine the median effective concentration (EC50) of ropivacaine for ultrasound-guided brachial plexus block.Methods Fifty ASA Ⅰ or Ⅱ patients of both sexes, aged 19-72 yr, weighing 45-83 kg, scheduled for upper extremity surgery under brachial plexus block guided by ultrasound, were enrolled in this study. Brachial plexus block was performed under the guidance of ultrasound. After successful location, ropivacaine 30 ml was injected. EC50 of ropivacaine was determined by up-and-down sequential method. The initial concentration was 0.50% . Each time the concentration increased/decreased by 0.05% . EC50 of ropivacaine required for ultrasound-guided brachial plexus block and 95% confidence interval were calculated using Probit analysis.Results The EC50 of ropivacaine resulting in complete block of the brachial plexus nerve was 0.436%(95% confidence interval 0.393%-0.477% ). Conclusion The EC50 of ropivacaine is 0.436% for ultrasoundguided brachial plexus block.

Objective To investigate the role of RANKL/RANK/OPG system in bone metabolism of ankylosing spondylitis (AS) by detecting bone mineral density, bone metabolism factors such as osteoprotegerin (OPG), soluble receptor activator of nuclear factors-κB ligand (sRANKL) and the expression of membrane-bound (mb) RANKL in the peripheral blood T lymphocytes. Methods Bone mineral density of AS patients were measured by dual-energy X-ray absorptiometry (DEXA) and serum levels of OPG, sRANKL,tartrate resistant acid phosphatase 5b (TRACP-5b) and bone alkaline phosphatase (BALP) were determined by enzyme-linked immunosorbent assay (ELISA). The percentages of CD4+/RANKL+ and CD8+/RANKL+ in the peripheral blood were detected with flow cytometry. T-test, x2-test were used for statisical analysis. Results ① The incidence of osteopenia and osteoporosis in AS was 47% and 37% respectively. ② Serum RANKL,TRACP-5b levels and RANKL/OPG ratio were higher in AS patients than those in normal controls (P<0.05).But there was no significant difference in OPG and BALP between AS patients and normal controls. ③There were positive linear correlation between serum levels of RANKL and OPG, sRANKL and TRACP-5b, OPG and TRACP-5b in AS (P<0.01). ④ The prevalence of CD4+/RANKL+ cells in the peripheral blood of AS patients was significantly higher than that in the normal controls (P<0.05). Conclusion There is a high incidence of bone loss in AS patients. Increased bone resorbtion is the feature of bone metabolism in AS.RANKL/RANK/OPG system may play an important role. The imbalance of RANKL/RANK/OPG system may be one of the bone loss mechanisms of AS. CD4 + T lymphocyte may play an important role in osteoclasts differentiation and bone resorption in AS by up-regulating the expression of RANKL.

Humans ; Medicine, Chinese Traditional ; methods ; Phytotherapy ; methods ; Spinal Cord Injuries ; therapy