子野个数限值对宫颈癌固定野调强放疗计划的影响

目的:分析子野个数限值对宫颈癌固定野调强放疗（fixed-field intensity-modulated radiotherapy,ff-IMRT）计划的影响，寻求最优的子野个数限值。方法:选取10例接受ff-IMRT的宫颈癌患者，基于Monaco 5.11.03计划系统，以45 Gy/25 f处方剂量分别对同一患者设计8种ff-IMRT计划（ff-IMRT计划依据子野个数限值命名，子野个数限值分别为40、60、70、80、100、120、130、150），采用SPSS 20.0软件比较除plan100之外7个ff-IMRT计划与plan100剂量学参数、优化时间和治疗参数的差异。结果:8种ff-IMRT计划归一化后，plan40和plan60的D2%、Dmin、CI和HI均劣于plan100（P＜0.05）。8种ff-IMRT计划均能较好保护危及器官（organ at risk,OAR）和正常组织。plan40小肠V45;plan40和plan60小肠D2cc，直肠、膀胱V45、D40%，两侧股骨头V40和正常组织 V35、V40均高于plan100（P＜0.05）。plan40和plan60优化时间、治疗参数均优于plan100（P＜0.05）；plan120、plan130和plan150子野面积、子野个数（51~150 cm2和＞150 cm2）和出束时间均劣于plan100（P＜0.05）。结论:子野个数限值为70~100时，ff-IMRT计划能兼顾剂量学参数满足临床要求、优化时间和治疗参数最优化，建议在设计宫颈癌ff-IMRT计划时在该范围内设置子野个数限值。     

IN.PACT AV Access Trial: Economic Evaluation of Drug-Coated Balloon Treatment for Dysfunctional Arteriovenous Fistulae Based on 12-Month Clinical Outcomes

PurposeTo study, from a U.S. payer’s perspective, the economic consequences of drug-coated balloon (DCB) versus standard percutaneous transluminal angioplasty (PTA) use for the treatment of stenotic lesions in dysfunctional hemodialysis arteriovenous fistulae.Materials and MethodsCost differences between DCBs and PTA at year 1 and beyond were calculated via 2 methods. The first approach used the mean absolute number of trial-observed access circuit reinterventions through 12 months (0.65 ± 1.05 vs 1.05 ± 1.18 events per patient for DCBs and PTA, respectively) and projected treatment outcomes to 3 years. The second approach was based on the trial-observed access circuit primary patency rates at 12 months (53.8% vs 32.4%) and calculated the cost difference on the basis of previously published Medicare cost for patients who maintained or did not maintain primary patency. Assumptions regarding DCB device prices were tested in sensitivity analyses, and the numbers needed to treat were calculated.ResultsUsing the absolute number of access circuit reinterventions approach, the DCB strategy resulted in an estimated per-patient savings of $1,632 at 1 year and $4,263 at 3 years before considering the DCB device cost. The access circuit primary patency approach was associated with a per-patient cost savings of $2,152 at 1 year and $3,894 at 2.5 years of follow-up. At the theoretical DCB device reimbursement of $1,800, savings were $1,680 and $2,049 at 2.5 and 3 years, respectively. The one-year NNT of DCB compared to PTA was 2.48.ConclusionsEndovascular therapy for arteriovenous access stenosis with the IN.PACT AV DCB can be expected to be cost-saving if longer follow-up data confirm its clinical effectiveness.     

基因组拷贝数变异测序与染色体核型分析在胎儿遗传学诊断中的比较

目的比较基因组拷贝数变异测序(CNV-seq)技术和染色体核型分析和在产前胎儿遗传学诊断中的应用价值。方法收集来我院有产前诊断指征进行羊水穿刺的259例孕妇,取材后,送检染色体核型分析和CNV-seq,比较两种方法在产前诊断中的优缺点。结果259例标本中,共诊断异常染色体核型及微缺失微重复23例,总阳性诊断率8.88%(23/259),CNV-seq结果显示,共有22例染色体拷贝数异常(12例三体+9例微缺失微重复+1例三倍体),检出率为8.49%;染色体核型分析结果显示为:17例染色体异常(12例三体+3例结构异常+1例嵌合型+1例三倍体),检出率为6.56%。此外还检出染色体多态7例。结论CNV-seq与染色体核型分析对于染色体非整倍体的检测效力一致,CNV-seq能检测染色体微缺失微重复,染色体核型分析则能诊断出三体具体核型,在怀疑性染色体异常时,建议行两者联合检测。     

二补助育汤对胚胎着床障碍小鼠子宫血管生成相关因子表达的影响

目的：探讨二补助育汤对胚胎着床障碍模型小鼠子宫内膜形态及血管生成素-1（Ang-1）mRNA、血管内皮生长因子（VEGF）mRNA的表达和定位的影响。方法：24只ICR雌性小鼠随机分为空白组、模型组、戊酸雌二醇组、二补助育汤组，每组6只，用米非司酮建立胚胎着床障碍动物模型，各组给予相应药物灌胃，妊娠第5天处死小鼠后，检测各组妊娠率、平均着床位点数、子宫内膜Ang-1和VEGF mRNA表达量及其蛋白定位。结果：模型组小鼠平均胚胎着床位点数、Ang-1 mRNA、VEGF mRNA表达量明显低于空白组（均P<0.05）；与模型组比较，二补助育汤组平均胚胎着床位点数、Ang-1 mRNA、VEGF mRNA表达量显著提高（均P<0.05）。结论：二补助育汤可提高子宫内膜Ang-1和VEGF蛋白表达量，促进子宫内膜血管生成，从而提高子宫内膜容受性。     

Time-varying characteristics of the induced membrane and its effects on bone defect repair

PurposeThis study intended to determine the properties of induced membranes after various periods of polymethyl methacrylate (PMMA) retention and the effect of different retention intervals on subsequent defect repair.MethodsModel of a critical bone defect in rabbits was prepared to obtain the induced membrane. For varying intervals of spacer insertion (2, 4, 6, 8, 12, 16, and 20 weeks postoperatively), angiogenesis, osteogenesis, and MSC-related properties were analyzed by immunohistochemistry and western-blot. Furthermore, 2, 4, 6, and 8 weeks after PMMA insertion, bone grafting was performed. Characteristics of defect repair were analyzed by X-ray and micro-CT analysis.ResultsThe induced membrane displayed angiogenesis, osteogenesis, and MSC-related properties from the 2- to 20-week intervals. Quantitation of protein expression (RUNX2, ALP, VEGF, TGF-beta, OCT4, and STRO1) revealed that selected proteins gradually rose to a high level at 4–8 weeks postoperatively and then decreased to a low level over a long time period. Following bone grafting, the most new bone formation was in the group when grafting was performed at 4 weeks, followed by the groups at 2 and 6 weeks, with the least in the group at 8 weeks.ConclusionThe induced membrane displays angiogenesis, osteogenesis, and MSC-related properties from the 2- to 20-week intervals. These were increased to a peak level at 4–8 weeks postoperatively and then gradually decreased. The optimal timing for bone grafting at the second stage in the presented model was 4 weeks after PMMA insertion.     

Collaborer avec les familles des jeunes adultes avec troubles psychiques débutants : vers un dialogue réflexif ? Illustration de cas

Early intervention programs for young adults with early mental illness value and promote collaboration with families. Partnership is justified in particular by the influence of family tensions on relapse and the importance of redefining ties at this stage of life. However, in practice, implementing interventions with families is still complex and gaps exist between willingness and actual practices. Early intervention programs around the world often favor a psychoeducational approach with families. However, an alternative practice with young adults developed in Finnish psychiatry under the name of “open dialogue” involves a discussion about the process of care during family sessions with the aim of improving it. Inspired by this approach to clinical our case study presents how a reflexive dialogue can be established with families, in the context of observations done within a clinical program for young adults (18 to 25 years) with early mental illness, in order to facilitate collaboration with them. For our case study, reflexive dialogue was implemented through a reflexive interview organized for the family of a 23-year-old single man living in a foster care family and treated after a first psychotic episode. The interview was done in a context of tensions within clinical staff and the family. During this reflexive interview, a member of the clinical staff not directly involved in family sessions collectively interviewed the clinical staff and the families during a semi-structured interview (Example of question for staff: Are there any issues you haven’t talked about yet? Example of question for family: Have you ever felt that you have not been heard by caregivers?). This interview is presented to the families as a way of gathering everyone's impressions of their experiences of family sessions, as freely as possible. This interview is presented as an opportunity to reorient the continuation of therapy by allowing clinicians to better adjust to family expectations. The interview takes place in three stages: (1) The interviewer turns to the caregivers and asks them questions about the family sessions. Family members listen to the answers without intervening (close to the practice of the reflexive team). (2) The interviewer turns to family members and asks them questions. Caregivers listen to their answers without intervening. (3) Family and caregivers are invited to briefly share their impressions of what was said during this interview session. A few weeks after the intervention, quantitative (adaptation of SCORE scale) and qualitative feedback on the usefulness and perception of interview was taken from the clinicians as well as the family. Results suggested that the interview was judged useful by staff and family on several dimensions like positive change in therapeutic relation after reflexive interview. The interview also positively changed the way clinical staff and parents viewed each other within the system of care. Clinical staff saw more resources of parents and parents perceiving a better relationship within clinical staff. Our results seem promising and encourage a more systematic study of reflexive interview effect on collaboration with families.     

Distinct segregation of the pathogenic m.5667G>A mitochondrial tRNAAsn mutation in extraocular and skeletal muscle in chronic progressive external ophthalmoplegia

Chronic progressive external ophthalmoplegia (CPEO) is a frequent clinical manifestation of disorders caused by pathogenic mitochondrial DNA mutations. However, for diagnostic purposes skeletal muscle tissue is used, since extraocular muscle tissue is usually not available for work-up. In the present study we aimed to identify causative factors that are responsible for extraocular muscle to be primarily affected in CPEO. We performed comparative histochemical and molecular genetic analyses of extraocular muscle and skeletal muscle single fibers in a case of isolated CPEO caused by the heteroplasmic m.5667G>A mutation in the mitochondrial tRNA^Asn gene (MT-TN). Histochemical analyses revealed higher proportion of cytochrome c oxidase deficient fibers in extraocular muscle (41%) compared to skeletal muscle (10%). However, genetic analyses of single fibers revealed no significant difference either in the mutation loads between extraocular muscle and skeletal muscle cytochrome c oxidase deficient single fibers (extraocular muscle 86% ± 4.6%; skeletal muscle 87.8 %± 5.7%, p = 0.246) nor in the mutation threshold (extraocular muscle 74% ± 3%; skeletal muscle 74% ± 4%). We hypothesize that higher proportion of cytochrome c oxidase deficient fibers in extraocular muscle compared to skeletal muscle might be due to facilitated segregation of the m.5667G>A mutation into extraocular muscle, which may explain the preferential ocular manifestation and clinically isolated CPEO.