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61.
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应用拷贝数变异测序(copy number variation sequencing,CNV-seq)技术鉴别来源不明的胎儿标记染色体,明确其遗传物质的来源,并探讨此技术在产前诊断中的应用价值。讨论Pallister-Killian综合征(Pallister-Killian syndrome,PKS)的临床特征及遗传学特点,提高对此类罕见染色体疾病的认识。该病例因在妊娠中期超声发现胎儿异常而行羊水穿刺进行CNV-Seq检测,同时分析胎儿和父母的核型。羊水CNV-Seq结果示该样本12号染色体p13.33-p11.1处检测到拷贝数为3.5、片段大小为34.70 Mb的嵌合重复区域;羊水染色体核型结果为47,XY,+i(12)(p10)[58]/46,XX[42],综合上述结果考虑为PKS。通过结合超声结果,综合应用染色体G显带核型分析和CNV-seq技术能准确确认染色体异常片段来源,在产前有效诊断PKS患者。 相似文献
63.
《Vaccine》2020,38(45):7118-7128
IntroductionToward the Global Vaccine Action Plan 2020 goal, almost 90% of countries have established a National Immunization Technical Advisory Group (NITAG). However, little is known about NITAG's contributions to governance.MethodsIn 2017–2018, a two-step, qualitative retrospective study was conducted. Jordan (JO), Argentina (AR), and South Africa (SA) were selected owing to government-financed NITAGs from middle-income countries (MICs), geographic diversity, and a vaccine introduction with NITAG support. Country case studies were developed, collecting data through desk review and face-to-face key informant interviews (KIIs) from Ministry of Health (MoH) and NITAG. Case studies were analyzed together, to assess governance applying the European Observatory on Health Systems and Policies framework focusing on transparency, accountability, participation, integrity, and policy capacity (TAPIC).ResultsDocument review and 53 KII (22 AR, 20 SA, 11 JO) showed NITAGs played a pivotal role as advisors promoting a culture of evidence-informed policies. NITAGs strengthened governance, although practices varied among countries. Meetings were conducted behind-closed-doors, participation restricted to members, only in one country agendas, and recommendations were public (AR). To increase participation, policy capacity, and transparency, countries considered adding experts in communications, advocacy, and economics. AR and SA contemplated including community members. NITAGs functioned autonomously from the government, with no established internal or external monitoring or supervision. NITAG meeting minutes allowed the review of integrity, adherence to terms of reference, standard operating procedures, and conflict of interest (CoI). For the most part, NITAGs abided by their mandates. Significant issues were related to the level of MoH support and oversight of CoI declaration and documentation.ConclusionsSystematically implementing governance approaches could improve processes, better tailor policies, and implementation. The long-term survival and resilience of NITAGs in these countries showed they play a significant role in strengthening governance. Lessons learned could be useful to those promoting country-driven evidence-informed decision-making. 相似文献
64.
皮肤损伤后的异常愈合会导致病理性瘢痕的产生。病理性瘢痕的出现不仅影响美观,严重时还会造成心理和生理功能障碍。病理性瘢痕的机制研究对于瘢痕治疗有极为重要的意义。其中,动物瘢痕模型是目前研究病理性瘢痕的重要模型手段之一。理想的动物瘢痕模型应该在组织学、细胞学等层面尽可能接近于人类的病理性瘢痕。该文分别从传统技术动物瘢痕中的啮齿类动物模型、兔耳模型和猪模型,以及新技术动物瘢痕模型这两个方面,结合近年来在瘢痕领域应用较多的研究,进行了相应系统的阐述。 相似文献
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66.
《The Journal of arthroplasty》2022,37(10):2090-2096
BackgroundIt remains unclear whether reimplantation of a patellar component during a two-stage revision for periprosthetic total knee arthroplasty infection (PJI) affects patient reported outcome measures (PROMs) or implant survivorship. The purpose of this study was to evaluate whether patellar resurfacing during reimplantation confers a functional benefit or increases implant survivorship after two-stage treatment for PJI.MethodsTwo-stage revisions for knee PJI performed by three surgeons at a single tertiary care center were reviewed retrospectively. All original patellar components and cement were removed during resection and the patella was resurfaced whenever feasible during reimplantation. PROMs, implant survivorship, and radiographic measurements (patellar tilt and displacement) were compared between knees reimplanted with a patellar component versus those without a patellar component.ResultsA total of 103 patients met the inclusion criteria. Forty-three patients (41.7%) underwent reimplantation with, and 60 patients (58.3%) without a patellar component. At a mean follow-up of 33.5 months, there were no significant differences in patient demographics or PROMs between groups (P ≥ .156). No significant differences were found in the estimated Kaplan-Meier all-cause, aseptic, or septic survivorship between groups (P ≥ .342) at a maximum of 75 months follow-up. There was no significant difference in the change (pre-resection to post-reimplant) of patellar tilt (P = .504) or displacement (P = .097) between the groups.ConclusionPatellar resurfacing during knee reimplantation does not appear to meaningfully impact postoperative PROMs or survivorship. Given the risk of potential extensor mechanism complications with patellar resurfacing, surgeons may choose to leave the patella without an implant during total knee reimplantation and expect similar clinical outcomes.Level of EvidenceLevel III. 相似文献
67.
68.
复杂性胸壁缺损的修复一直是一项极具挑战性的工作。肿瘤性复杂性胸壁缺损的修复决策及其执行困难是限制胸壁肿瘤治疗方法选择及影响预后的重要因素之一。皮瓣解剖学研究的深入、胸壁支持结构重建技术的进步、显微外科技术的发展、麻醉护理的发展、对综合治疗的重视和治疗手段的进步等,使传统认为不可切除的胸壁肿瘤得以彻底地切除和安全有效地修复,从而使与缺损修复相关的肿瘤切除及辅助治疗的禁忌证缩减到最小程度,有效地提高了胸壁肿瘤患者的生存质量,并很大程度上延长了生存率。作者以湖南省肿瘤医院整形外科15年565例胸壁肿瘤切除后修复重建的临床资料为依据,充实了胸壁肿瘤切除及修复的策略:(1)可靠的胸壁骨性支架重建;(2)有效的软组织修复;(3)麻醉及护理与手术团队的合作;(4)系统有序的综合治疗。并进一步明确了复杂胸壁肿瘤切除及重建的细节理念,包括胸部肿瘤治疗中加强多学科合作的密切性和科学性,整形外科医生参与肿瘤治疗整体规划的主动性和时机前移等。 相似文献
69.
《Journal of infection and chemotherapy》2019,25(10):764-768
ObjectiveThe detection of abnormal findings on computed tomography (CT) scans of tuberculosis contacts combined with normal plain radiographs contributes to the early detection of tuberculosis. However, the benefit of the early detection of abnormalities for the prevention of active tuberculosis during follow-up requires evaluation.MethodWe conducted retrospective comparison of the existence of CT scans of tuberculosis contacts without findings of active tuberculosis on plain radiographs at a hospital in Japan. Results: Among 243 contacts without CT scans, five developed tuberculosis during follow-up. Among 229 contacts with CT scans, 24 were judged as targets of multi-drug therapy since their CT findings were suggestive of active tuberculosis at the time of the CT screening. Among 205 contacts judged as having latent tuberculous infection with CT screening, three developed tuberculosis diseases during follow-up. Conclusion: CT scans detected abnormal findings among contacts without abnormalities of plain radiographs but there were some contacts that developed tuberculosis diseases among those with contact investigation including CT scan. The value of CT is equivocal considering the balance of true treatment, overtreatment and harm of radiation. 相似文献
70.