OBJECTIVE: To explore the clinical characteristics and genetic variants underlying Hereditary coagulation factor V (FV) deficiency in two Chinese pedigrees. METHODS: Seventeen individuals from three generations of the two pedigrees affected with FV deficiency whom had visited Taizhou Hospital of Zhejiang Province respectively in March and June 2024 were recruited as study subjects. One hundred healthy individuals undergoing physical examinations have served as the controls. Relevant coagulation parameters were measured. Thrombin generation was assessed using the calibrated automated thrombogram (CAT) assay. All exons and flanking regions of the F5 gene were amplified by PCR and directly sequenced. Candidate variants were analyzed for evolutionary conservation and potential pathogenicity, and their effects on protein structure were predicted. This study was approved by the Medical Ethics Committee of Taizhou Hospital of Zhejiang Province (Ethics No.: 20230722). RESULTS: The FV activity (FV: C) and antigen levels (FV: Ag) of both probands showed concurrent decrease. By thrombin generation assay, both the lag time ratio and time to peak ratio were significantly increased. Genetic analysis revealed that proband A carried compound heterozygous missense variants c.911G>A (p.Gly304Glu) and c.1238T>C (p.Met413Thr), whilst Proband B carried compound heterozygous missense variants c.1258G>T (p.Gly420Cys) and c.1538G>A (p.Arg513Lys) of the F5 gene. Conservation analysis revealed that the amino acid residues p.Gly304, p.Gly420, and p.Arg513 are highly conserved across various species. Online bioinformatics tools predicted that both the p.Gly304Glu and p.Gly420Cys variants are pathogenic. Protein modeling demonstrated that all four variants can result in alterations of protein structure or disruption of hydrogen bonding. CONCLUSION FV deficiency in these two pedigrees can be attributed to the compound heterozygous variants p.Gly304Glu/p.Met413Thr and p.Gly420Cys/p.Arg513Lys of the F5 gene.
Adult ; Female ; Humans ; Male ; Middle Aged ; China/ethnology* ; Factor V/chemistry* ; Factor V Deficiency/genetics* ; Heterozygote ; Pedigree ; East Asian People/genetics*

Objective To investigate the clinical effect of old thoracolumbar vertebral fracturekyphosis with spinal stenosis by pedicle of vertebral archosteotomy and internal fixation.Methods Twenty patients with old thoracolumbar fracture with kyphosis,and associated with spinal stenosis,were treated by using transpedicular osteotomy and internal fixation treatment in the First People's Hospital of Shangqiu from June 2012 to May 2014.Radiographical assessments including localized kyphosis,thoracic kyphosis,lumber lordosis,sacral tilt angle,sagittal vertical axis,bony fusion and the relative height of the ifiterbody fusion vertebra.Visual analogue scale(VAS),and ASIA were evaluated before and after surgery,and the operative duration,blood loss were recorded.Results The operation carried out in 120-200 min,800-1600 ml of bleeding statistics through operation process.Localized kyphosis was reduced from an average of (42.6±4.2) ° to (8.2± 1.6) °,the difference was statistically significant (P =0.012).All patients were followed up for 10.0 -26.0 months,average (18.0±6.2) months.The average VAS score was 6.88±0.82 before operation and 2.10 ±0.84 at final follow-up,the difference was statistically significant(P=0.023).The bone healed well,no false joints.Neurological function improved from C to D in 2 patients,from C to E in 4 patients,and from D to E in 14 patients.Conclusion Old thoracolumbar vertebral fracture kyphosis with spinal stenosis by transpedicularosteotomy and internal fixation in the treatment of simple operation,definite effect,less complications and can effectively improve the prognosis.

Objective To investigate the clinical effect of high developmental dislocation of the hip in patients with total hip replacement operation to take biology.Methods Thirty-six cases of high developmental dislocation of the hip by patients as the object of study from January 2011 to February 2014 in the First People' s Hospital of Shangqiu, all patients underwent cementless total hip joint replacement operation, 6 months to 2 years after surgery, observed the clinical effect of all patients before and after treatemnt.Results The operation time was 1.20-3.0 h,the average operation time was (2.13±1.01) h,amount of bleeding during the operation of 300.00-700.00 ml,the average amount of bleeding was (342.43±34.23) ml;follow up of 6 months to 2 years, all patients had no prosthesis loosening and dislocation of the hip;all patients after treatment, Harris score (81.56± 14.34) points, better than that before treatment, the difference was statistically significant ((54.34 ± ±9.78) points,P=0.009);The excellent and good rate of all the patients after the treatment (97.22％) .Conclusion The clinical effect of high developmental dislocation of the hip by total hip replacement operation in patients taking biological type significantly, has the advantages of simple operation, effectively relieve pain, improve the life quality of patients and other advantages, the ideal treatment method can be used as high developmental dislocation of hip.

0.05). Conclusion The changes of serum protein electrophoresis results in the parturient women were mainly presented with the decreased in albumin and ? globin levels, increased percent of ? 1,? 2 and ? globins, increased percent of ? 2 and ? globins markedly related with increased ? and ? lipoprotein. Agarose gel electrophoresis as a screening method for component of serum proteins is valuable.