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【目的】对7家拟诊为Maroteaux_Lamy综合征（MPSⅥ）的患儿及其父母进行ARSB基因的突变检测 和新突变的致病性鉴定，以揭示其分子发病机制，为将来的产前/植入前基因诊断等创造前提条件。【方法】在 临床初诊及GAG尿检和MPS酶检的基础上，抽取患儿及其父母EDTA抗凝血，进行ARSB基因的PCR扩增和 Sanger测序。对所发现的新突变，在经HGMD、1000G和ExAC等数据库核实排查后，首先用SWISS-MODEL软件 分析、比对突变蛋白和正常蛋白的空间构象，然后用ClustalX软件分析跨物种氨基酸的保守性，用PROVEAN、 SIFT、PolyPhen-2软件预测新突变的致病性，最后用ACMG标准对新突变的致病性进行综合分析鉴定。【结果】 1） 7个家系先证者的基因检测结果分别为：No1： c.574T>C，p.C192R纯合错义突变；No2： c.160G>A/p.D54N（来 自其母）和c.1197C>G/p.F399L（来自其父）的复合杂合子；No3：仅检出c.1072G>A/p.V358M和IVS5as（-27）A> C变异，但酶检和临床表型符合VI型；No4：为c.281C>T，p.S94L（新突变，来自其母）和IVS5as（-27）A>C（来自 其父）的复合杂合子；No5：为c.1197C>G，p.F399L纯合错义突变；No6：为c.1197C>G，p.F399L（来自其母）和 c.1379C>T，p.S460F（新突变，来自其父）的复合杂合子；No7：为c.499G>A，p.G167R（来自其父）和c.1325C> T，p.T442M（来自其母）的复合杂合子。2）新突变鉴定结果：对正常ARSB酶蛋白和p.S94L突变酶蛋白的空间构 象的预测比对结果显示，两者有明显区别；跨物种保守性分析结果显示， p.94突变点所在氨基酸（S）在物种进化 过程中具有高度保守性；PROVEAN、SIFT和PolyPhen-2软件对p.S94L预测结果分别为：Deleterious、Damaging和 Probablydamaging。用上述方法对p.S460F的预测结果及ACMG的综合分析结果也显示该突变可能是致病性 的。【结论】1）家系4的p.S94L和家系6的p.S460F新突变可能都是新的致病性突变，有可能都是引起患儿发病 的内在原因之一。2）家系1， 2， 5， 6， 7可以确诊为MPSVI型，其基因型和表现型具有显著的相关性，家系3虽经 酶检确诊，临床症状和尿检结果也都与MPSVI型符合，但却未能在DNA水平查到明确的突变类型，其表现型与 基因型的相关性还有待进一步证实。

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Copyright of Chinese Journal of Preventive Veterinary Medicine / Zhongguo Yufang Shouyi Xuebao is the property of Chinese Journal of Preventive Veterinary Medicine Editorial Office and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: To evaluate the efficacy of posterior atlantoaxial screw-plate fixation and autologous bone graft fusion for atlantoaxial instability and dislocation in children. Methods: From March 2019 to October 2022, 22 children with atlantoaxial instability and dislocation were retrospectively reviewed. There were 12 boys and 10 girls with an age range of (8.2±2.8)(4-14) year. Degree and improvement of spinal cord injury before and after surgery were assessed by the neurological grading system of American Spinal Cord Injury Association (ASIA). Atlantodens interval (ADI) and clivus-axial angle (CAA) were measured for evaluating the reduction of atlas and axis. Space available for spinal cord (SAC) was measured for evaluating spinal cord compression. And ASIA impairment scale, bone graft fusion and complications were recorded. Results: One-stage posterior atlantoaxial screw-plate fixation ( n=20) and posterior reduction plus fusion after anterior release ( n=2) were performed. The average follow-up period was (45.8±14.5)(13-48) month. No intraoperative injury of spinal cord or vertebral artery occurred. The postoperative and final follow-up ADI (2.6±1.3), (2.7±1.0) mm, CAA (143.1±6.4), (142.7±8.5) and SAC (18.7±3.4), (18.9±3.0) mm were compared with preoperative ADI[(9.0±3.2)mm], CAA[(120.5±13.1)]and SAC[(13.6±5.2) mm]. And the differences were statistically significant ( P<0.05).At the last follow-up, 13 children with preoperative neurological symptoms attained ASIA grade E. And solid fusion and anatomical reduction were obtained on cervical CT scan without any loosening or fracturing of internal fixation. Conclusions: For atlantoaxial instability and dislocation in children, posterior atlantoaxial screw-plate system fixation and autologous iliac cancellous bone graft fusion may achieve anatomical reduction and strong fixation and yield excellent outcomes of bone graft fusion. [ABSTRACT FROM AUTHOR]

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Objective To explore the application of intervertebral autologous bone graft in situ in hemivertebral resection surgery in children. MethodsA retrospective study was conducted for 70 children undergoing single-level hemivertebral resection due to congenital scoliosis. According to different surgical approaches, they were divided into control group and observation group (n=35 each). The control group underwent traditional posterior hemivertebral resection, bone grafting, fusion and internal fixation. The observation group underwent posterior hemivertebral resection, anterior structural reconstruction (massive autologous bone graft in situ for intervertebral fusion) and posterior bone grafting. Clinical data, surgical findings and postoperative follow-ups were recorded. Based upon radiographs of whole spine at the time of pre-operation, post-operation and follow-ups, the relevant sagittal and coronal imaging parameters were measured. Postoperative spinal computed tomography (CT) images were acquired during follow-ups for evaluating the outcomes of bone graft fusion. Results No inter-group statistical difference existed in gender, height, age, weight, hemivertebral distribution, operative duration, intraoperative blood loss or length of hospitalization stay (P>0. 05). Preoperative coronal parameters (major curve Cobb's angle, proximal compensatory curve & distal compensatory curve) or sagittal plane parameters (segmental kyphosis angle, thoracic kyphosis angle, thoracolumbar kyphosis angle, sagittal plane balance & lumbar lordorsis angle) showed no significant difference (P>0. 05). At the last follow-up, loss of major curve Cobb's angle and segmental kyphosis angle were significantly smaller in observation group than those in control group, which had significant differences (P<0. 05); CT scan revealed that the rate of intervertebral fusion (level 1) was higher in observation group with a statistical difference (P<0. 05); no obvious operation-related complications occurred in neither groups. Conclusion In situ intervertebral bone grafting of massive autogenous bone may achieve excellent correction and satisfactory intervertebral fusion through anterior support and reconstruction, which has significant advantages for the correction of lumbar lordosis. At the same time, due to anterior intervertebral support and fusion, it is more benefical to maintain postoperative kyphosis angle and avoid excessive angle loss. [ABSTRACT FROM AUTHOR]

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Objective To figure out whether propofol anesthesia impairs information transmission from hippocampal to prefrontal cortex (HPC-PFC) neural pathways during the coding phase of working memory in rats. Methods Among 12 rats, 6 SD rats (3 months old) were selected for research analysis, and 16-channel microelectrode arrays were implanted into the medial prefrontal cortex (mPFC) and the ventral hippocampus (vHPC) of rats, respectively. The Cerebus information acquisition system was used to record the working memory coding stage tasks of each rat before and 12 and 24 hours after anesthesia with 150 mg/kg propofol. The multichannel local field potential (LFPs) signals of mPFC and vHPC, two responsible brain regions, were used to establish the vHPC-mFPC network. The directional transfer function (DTF) and the information flow of vHPC-mPFC neural pathway in vHPC and mPFC networks were calculated respectively, and the information transmission of vHPC-mPFC neural pathway before and after anesthesia was quantitatively characterized. Results During working memory encoding, information flow from vHPC to mPFC was significantly reduced 12 h after propofol anesthesia comparison with before propofol anesthesia, but it recovered at 24 h after propofol injection. There were no significant differences in the average vHPC and mPFC network connection strength and vHPC-mPFC information flow of rats between before anesthesia and 24 h after anesthesia. Conclusion These results indicated that working memory impairment induced by propofol may result from disrupting information transmission in vHPC-mPFC network during working memory encoding. [ABSTRACT FROM AUTHOR]

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