Objective:To analyze a Chinese pedigree with Hereditary coagulation factor Ⅻ (FⅫ) deficiency duo to variants of F12 gene and explore its molecular pathogenesis. Methods:A patient who underwent laparoscopic cystectomy at the Department of Gynecology of the First Affiliated Hospital of Wenzhou Medical University in June 2012 was selected as the study subject. Coagulation factor indexes of the proband and her family members (5 individuals from three generations) were determined. All exons, flanking sequences, 5′ and 3′ untranslated regions of the F12 gene of the proband and her family members were analyzed by direct sequencing. Three bioinformatics software was used to analyze the conservation, pathogenicity and protein model of the variant. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No. 2012-17). Results:The activated partial thromboplastin time (APTT), FⅫ activity (FⅫ: C) and FⅫ antigen (FⅫ: Ag) of the proband was 180.0 s, 1.0% and 2.1%, respectively. DNA sequencing revealed that she has harbored compound heterozygous variants of the F12 gene, namely c. 712_713insT (p.Cys238Leufs *73) in exon 8 and c. 1561G>A (p.Glu521Lys) in exon 13. Her mother and younger son were heterozygous for the p. Cys238Leufs*73 variant, while her older son was heterozygous for the p. Glu521Lys variant. Bioinformatic analysis suggested that Cys238 is highly conserved and p. Cys238Leufs*73 is a pathogenic variant, which eventually resulted in a truncated protein. Conclusion:The c. 712_713insT and c. 1561G>A compound heterozygous variants of the F12 gene probably underlay the decreased FⅫ level in this pedigree, among which c. 712_713insT (NM_000505) was unreported previously.

OBJECTIVE: To analyze a Chinese pedigree with Hereditary coagulation factor Ⅻ (FⅫ) deficiency duo to variants of F12 gene and explore its molecular pathogenesis. METHODS: A patient who underwent laparoscopic cystectomy at the Department of Gynecology of the First Affiliated Hospital of Wenzhou Medical University in June 2012 was selected as the study subject. Coagulation factor indexes of the proband and her family members (5 individuals from three generations) were determined. All exons, flanking sequences, 5' and 3' untranslated regions of the F12 gene of the proband and her family members were analyzed by direct sequencing. Three bioinformatics software was used to analyze the conservation, pathogenicity and protein model of the variant. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No. 2012-17). RESULTS: The activated partial thromboplastin time (APTT), FⅫ activity (FⅫ:C) and FⅫ antigen (FⅫ:Ag) of the proband was 180.0 s, 1.0% and 2.1%, respectively. DNA sequencing revealed that she has harbored compound heterozygous variants of the F12 gene, namely c.712_713insT (p.Cys238Leufs *73) in exon 8 and c.1561G>A (p.Glu521Lys) in exon 13. Her mother and younger son were heterozygous for the p.Cys238Leufs*73 variant, while her older son was heterozygous for the p.Glu521Lys variant. Bioinformatic analysis suggested that Cys238 is highly conserved and p.Cys238Leufs*73 is a pathogenic variant, which eventually resulted in a truncated protein. CONCLUSION The c.712_713insT and c.1561G>A compound heterozygous variants of the F12 gene probably underlay the decreased FⅫ level in this pedigree, among which c.712_713insT (NM_000505) was unreported previously.
Adult ; Female ; Humans ; Male ; Middle Aged ; Base Sequence ; China ; Factor XII/genetics* ; Heterozygote ; Mutation ; Pedigree ; Factor XII Deficiency/genetics* ; East Asian People

OBJECTIVE To establish HPLC fingerprints of three drying processes(Atmospheric pressure drying,Decompression drying,Freeze-drying)of Danggui Buxue granules,and combine them with antioxidant tests to determine the optimal drying process and main active components of Danggui Buxue granules.METHODS The fingerprints of multiple batches of Danggui Buxue granules were established by HPLC;the"Fingerprint Similarity Evaluation System of Traditional Chinese Medicine Chromatogram"was used to evaluate the similarity;Hierarchical Cluster Analysis(HCA)and Principal Component Analysis(PCA)were used to characterize the different drying processes of Danggui Buxue granules;evaluate the antioxidant activity of Danggui Buxue granules in different drying processes using 1,1-diphenyl-2-picrylhydrazy(DPPH)and 2,2'-azino-bis(3-ethylbenzothiazoline-6-sulfonic acid)diammonium salt(ABTS)free radical scavenging method;the spectrum-effect relationship between Danggui Buxue granules fingerprint and antioxi-dant activity was analyzed by grey correlation degree and Pearson,Spearman,Kendall's tau-b correlation analysis methods.RE-SULTS The results of fingerprint showed that there were 16 common peaks in 30 batches of Danggui Buxue granules,and 6 of them were identified by comparison.The results of Cluster Analysis and Principal Component Analysis showed that 30 batches of Danggui buxue granules were divided into 3 categories,and the difference between the groups of atmospheric pressure drying was the least.The results of oxidation test showed that different drying processes of Danggui Buxue granules had good antioxidant activity,and the atmos-pheric pressure drying had the lowest IC50 and the strongest antioxidant activity.Finally,combining the results of gray correlation anal-ysis and correlation analysis,the compounds F2,F10,F13(calycosin),F15(formononetin),F16 might be important characteristic peaks reflecting the antioxidant activity of Danggui Buxue granules.CONCLUSION Compared with other drying processes,atmos-pheric pressure drying has higher batch consistency and stronger antioxidant activity,and can be used as the preferred drying process for Danggui Buxue granules,and components 2,10,13,15 and 16 are the main active ingredients for Danggui Buxue granules to exert antioxidant effects.

OBJECTIVE To establish HPLC fingerprints of three drying processes(Atmospheric pressure drying,Decompression drying,Freeze-drying)of Danggui Buxue granules,and combine them with antioxidant tests to determine the optimal drying process and main active components of Danggui Buxue granules.METHODS The fingerprints of multiple batches of Danggui Buxue granules were established by HPLC;the"Fingerprint Similarity Evaluation System of Traditional Chinese Medicine Chromatogram"was used to evaluate the similarity;Hierarchical Cluster Analysis(HCA)and Principal Component Analysis(PCA)were used to characterize the different drying processes of Danggui Buxue granules;evaluate the antioxidant activity of Danggui Buxue granules in different drying processes using 1,1-diphenyl-2-picrylhydrazy(DPPH)and 2,2'-azino-bis(3-ethylbenzothiazoline-6-sulfonic acid)diammonium salt(ABTS)free radical scavenging method;the spectrum-effect relationship between Danggui Buxue granules fingerprint and antioxi-dant activity was analyzed by grey correlation degree and Pearson,Spearman,Kendall's tau-b correlation analysis methods.RE-SULTS The results of fingerprint showed that there were 16 common peaks in 30 batches of Danggui Buxue granules,and 6 of them were identified by comparison.The results of Cluster Analysis and Principal Component Analysis showed that 30 batches of Danggui buxue granules were divided into 3 categories,and the difference between the groups of atmospheric pressure drying was the least.The results of oxidation test showed that different drying processes of Danggui Buxue granules had good antioxidant activity,and the atmos-pheric pressure drying had the lowest IC50 and the strongest antioxidant activity.Finally,combining the results of gray correlation anal-ysis and correlation analysis,the compounds F2,F10,F13(calycosin),F15(formononetin),F16 might be important characteristic peaks reflecting the antioxidant activity of Danggui Buxue granules.CONCLUSION Compared with other drying processes,atmos-pheric pressure drying has higher batch consistency and stronger antioxidant activity,and can be used as the preferred drying process for Danggui Buxue granules,and components 2,10,13,15 and 16 are the main active ingredients for Danggui Buxue granules to exert antioxidant effects.

Objective:To analyze a Chinese pedigree with Hereditary coagulation factor Ⅻ (FⅫ) deficiency duo to variants of F12 gene and explore its molecular pathogenesis. Methods:A patient who underwent laparoscopic cystectomy at the Department of Gynecology of the First Affiliated Hospital of Wenzhou Medical University in June 2012 was selected as the study subject. Coagulation factor indexes of the proband and her family members (5 individuals from three generations) were determined. All exons, flanking sequences, 5′ and 3′ untranslated regions of the F12 gene of the proband and her family members were analyzed by direct sequencing. Three bioinformatics software was used to analyze the conservation, pathogenicity and protein model of the variant. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No. 2012-17). Results:The activated partial thromboplastin time (APTT), FⅫ activity (FⅫ: C) and FⅫ antigen (FⅫ: Ag) of the proband was 180.0 s, 1.0% and 2.1%, respectively. DNA sequencing revealed that she has harbored compound heterozygous variants of the F12 gene, namely c. 712_713insT (p.Cys238Leufs *73) in exon 8 and c. 1561G>A (p.Glu521Lys) in exon 13. Her mother and younger son were heterozygous for the p. Cys238Leufs*73 variant, while her older son was heterozygous for the p. Glu521Lys variant. Bioinformatic analysis suggested that Cys238 is highly conserved and p. Cys238Leufs*73 is a pathogenic variant, which eventually resulted in a truncated protein. Conclusion:The c. 712_713insT and c. 1561G>A compound heterozygous variants of the F12 gene probably underlay the decreased FⅫ level in this pedigree, among which c. 712_713insT (NM_000505) was unreported previously.

With bio-materials being widely applied in clinical practice, acellular dermal matrix (ADM), one of the most competitive techniques in tissue engineering, has been developed rapidly in recent years, gaining popularity for its advantages in clinical application. What’s more, micronized acellular dermal matrix (mADM) has received an increasing amount of attention for its unique morphological characteristics, particularly in the field of cosmetic injection. Compared with other techniques, mADM has the advantages of great safety and sustainability, with less minimal invasion. However, further practical validation is still needed to determine the most suitable media for mADM injection as well as the most appropriate ratio of media to mADM transplantation. This paper reviews the relevant research findings.

The impeller, as a key component of artificial heart pumps, experiences high shear stress due to its rapid rotation, which may lead to hemolysis. To enhance the hemolytic performance of artificial heart pumps and identify the optimal combination of blade parameters, an optimization design for existing pump blades is conducted. The number of blades, outlet angle, and blade thickness were selected as design variables, with the maximum shear stress within the pump serving as the optimization objective. A back propagation (BP) neural network prediction model was established using existing simulation data, and a grey wolf optimization algorithm was employed to optimize the blade parameters. The results indicated that the optimized blade parameters consisted of 7 impeller blades, an outlet angle of 25 °, and a blade thickness of 1.2 mm; this configuration achieved a maximum shear stress value of 377 Pa-representing a reduction of 16% compared to the original model. Simulation analysis revealed that in comparison to the original model, regions with high shear stress at locations such as the outer edge, root, and base significantly decreased following optimization efforts, thus leading to marked improvements in hemolytic performance. The coupling algorithm employed in this study has significantly reduced the workload associated with modeling and simulation, while also enhancing the performance of optimization objectives. Compared to traditional optimization algorithms, it demonstrates distinct advantages, thereby providing a novel approach for investigating parameter optimization issues related to centrifugal artificial heart pumps.
Neural Networks, Computer ; Algorithms ; Heart-Assist Devices ; Hemolysis ; Humans ; Equipment Design ; Stress, Mechanical ; Computer Simulation

Objective:To observe the effect of combining robot-assisted gait training (RAGT) with task-oriented training (TOT) on the walking ability of children with dyskinetic cerebral palsy (DCP).Methods:Sixty DCP children were randomly divided into a conventional intervention group, an RAGT group, and a combined intervention group, each of 20. All of the children received conventional rehabilitation therapy, while the RAGT and combined intervention groups were additionally provided with RAGT, and RAGT combined with TOT, respectively. Before the experiment and after 12 and 24 weeks of treatment, the subjects′ walking ability was evaluated using the 10-metre walk test (10MWT), and the D energy zone (standing position) and the E energy zone (walking, running and jumping) of the Gross Motor Function Measurement-88 (GMFM-88) instrument.Results:After 12 and 24 weeks of treatment, the average 10MWT speed and D and E energy zone scores of all three groups had improved significantly. After 24 weeks the combined group′s averages on all three measures were significantly better than those of the other two groups.Conclusion:RAGT combined with TOT and conventional rehabilitation training significantly improves the walking ability of DCP children.

Objective:To evaluate the clinical efficacy of A-PRF in the preservation of alveolar ridge after tooth extraction.Methods:Electronic databases of VIP,CNKI,Wanfang,CQVIP,Medline,Pubmed and Cochrane library were searched.The meta-analysis was performed by using Revman 5.4.Results:5 RCTs including 217 patients were identified.A-PRF can significantly reduce the vertical bone absorption of the extraction socket,can increase the amount of new bone formation in the extraction socket(P＜0.05).However,A-PRF can not effectively reduce the horizontal bone absorption and can not improve the bone density in the extraction socket(P＞0.05).Conclusion:A-PRF is effective in the alveolar ridge preservation after tooth extraction.