The ability to manage hemophilia in SP remains suboptimal. However, due to limited data, the evaluation and extrapolation of large hemophilia populations in SP are restricted, therefore, further studies with a large cohort are needed.
Hemophilia A (HA) is an X-linked bleeding disorder caused by heterogeneous mutations in the factor VIII gene ( F8). Our aim is to identify the causative mutations in a large HA cohort from China. We studied 216 unrelated HA families. Molecular analyses of F8 were performed using a combination of molecular techniques, including polymerase chain reaction, direct sequencing, and multiplex ligation-dependent probe amplification. The deleterious consequences of the unreported missense mutations were evaluated using various bioinformatics approaches. Causative mutations in F8 were identified in 209 families, intron 22 inversion (Inv22) was identified in 89 severe families, and intron 1 inversion (Inv1) was positive in 5 severe families; 95 mutations were detected among 115 noninversion families, of which 42 were novel, including 29 null variations and 13 missense mutations for which causality was demonstrated via bioinformatics. Among the 53 previously reported mutations, more nonsense (5 of 9) and missense (10 of 26) mutation sites were found to occur at Arginine (Arg) sites and multiple small deletions/insertions (5 of 10) located within the poly-A runs of the B domain. The majority of these sequence variants frequently recurred in the database. The odds ratios for the likelihood of developing inhibitors significantly increased in the presence of nonsense mutation. Our F8 defect spectrum was heterogeneous. Small deletions/insertions in the poly-A runs of the B domain and nonsense and missense mutations at Arg sites were identified as mutation hot spots. Nonsense mutation increased the risk of developing inhibitors.
The relationship between pore architecture and structure performance needs to be explored, as well as confirm the optimized porous structure. Because of the linear correlation between constant C and pore architecture, triply periodic minimal surface (TPMS) based porous structures could be a controllable model for the investigation of the optimized porous structure. In the present work, three types of TPMS porous scaffolds (S, D and G) combined with four constants (0.0, 0.2, 0.4 and 0.6) were designed, and built successfully via the selective laser melting (SLM) technology. The designed feature and mechanical property of porous scaffolds were investigated through mathematical method and compression test. And the manufactured samples were co-cultured with rMSCs for the compatibility study. The results indicated that the whole manufacturing procedure was good in controllability, repeatability, and accuracy. The linear correlation between the porosity of TPMS porous scaffolds and the constant C in equations was established. The different TPMS porous scaffolds possess the disparate feature in structure, mechanical property and cell compatibility. Comprehensive consideration of the structure features, mechanical property and biology performance, different TPMS structures should be applied in appropriate field. The results could guide the feasibility of apply the different TPMS architectures into the different part of orthopedic implants.
Background
Autogenous granular bone graft (AG), autogenous massive bone graft (AM), and titanium mesh bone graft (TM) are the three commonly utilized bone implant methods for spinal tuberculosis. However, the gold standard is still controversial. Therefore, this study aimed to compare the clinical efficacy and surgical safety of three primary bone graft modalities.
Methods
For systematic literature review, several databases, including PubMed, Embase, and Web of Science, were searched up to December 2022. Stata (version 14.0) was employed for data analysis.
Results
Our network meta-analysis included 517 patients from 7 articles whose qualities are acceptable based on our quality assessment criteria. In direct comparison, AG was associated with a shorter operation time (MD = 73.51; CI 30.65–116.37) and a lesser blood loss (MD = 214.30; CI 7.17–421.44) than AM. TM had fewer loss of Cobb angle than AG (MD = 1.45; CI 0.13–2.76) and AM (MD = 1.21; CI 0.42–1.99). Compared with AG, TM (MD = 0.96; CI 0.06–1.87) was related to a shorter bone graft fusion time. In indirect comparison, for the clinical parameters, the rank of CRP (from best to worst) was as follows: TM (58%) > AM (27%) > AG (15%), the rank of ESR (from best to worst) was as follows: AG (61%) > AM (21%) > TM (18%), and the rank of VAS (from best to worst) was as follows: AG (65%) > TM (33%) > AM (2%). In the aspect of surgical data, what is noteworthy is that AG showed less blood loss [AG (93%) > TM (6%) > AM (1%)], operative time [AG (97%) > TM (3%) > AM (0)], and complications [AG (75%) > TM (21%) > AM (4%)] than AM and TM. As for imaging parameters, the rank of the loss of Cobb angle (from best to worst) was as follows: TM (99%) > AM (1%) > AG (0). Moreover, TM showed a shorter bone graft fusion time than AM and AG: TM (96%) > AM (3%) > AG (1%).
Conclusions
The results indicated that AG might be the optional treatment for spinal tuberculosis owing to the outcomes of surgical safety. Moreover, TM is another right choice which can significantly reduce the loss of Cobb angle and shorten bone graft fusion time with long‐term follow‐up.
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