Coexistence of arteriovenous malformation and meningioma in a single patient: Systematic review and illustrative case

BackgroundThe coexistence of intracranial arteriovenous malformation (AVM) and meningioma in a single patient is seldom reported, so the clinical profile, optimal management, and outcomes of these patients are mostly unknown.MethodsWe performed a systematic review of the SCOPUS and PubMed databases for case reports and case series on patients with both intracranial AVMs and meningiomas. Data on demographics, clinical characteristics, surgical management, and outcomes were collected.ResultsA total of 18 cases were reported in the literature, including the present case. The mean age at presentation was 54 years (range of 15–70 years), with no gender predilection. Most of the meningiomas and AVMs were frontal in location, and more than half of the lesions were contiguous. The most common presenting symptoms were seizures (67%), headache (44%), and weakness (33%). Majority of the patients underwent single stage meningioma and AVM excision (44%), followed by staged meningioma excision then AVM excision (17%) and meningioma excision only (17%). In all, 94% (17/18) of the meningiomas were excised compared to 72% (13/18) of the AVMs. Outcomes were reported in 15 patients; 80% were favorable, but there were 2 deaths and 1 tumor recurrence after 5 years.ConclusionThe coexistence of an intracranial AVM with a meningioma is recognized but rarely reported in the literature. Individualized treatment should be employed in managing patients with concurrent lesions, and outcomes are generally favorable due to the benign nature of both these entities.     

33911例新生儿听力联合耳聋基因筛查及随访结果的分析

目的通过分析新生儿听力联合耳聋基因筛查的结果,以及对阳性病例的随访和管理,提高遗传性耳聋的检出率。方法收集33911例新生儿听力联合耳聋基因筛查的结果,应用Sanger测序对听力未通过或基因筛查提示阳性的患儿进行验证。结果听力初筛通过率为93.32%,复筛为87.01%。耳聋基因筛查阳性率为4.18%。GJB2、SLC26A4、GJB3和12SrRNA基因变异的检出率分别为1.98%、1.58%、0.37%和0.25%。共检出126例迟发性耳聋,84例药物性耳聋,4例GJB2纯合/复合杂合变异,5例SLC26A4纯合/复合杂合变异。联合筛查发现GJB2、SLC26A4、GJB3和12SrRNA单杂合变异者听力初筛和复筛未通过的比例分别为6.75%和2.61%、3.3%和1.2%、0.72%和0.14%、0.36%和0%。纯合/单基因复合杂合变异、单基因杂合变异、多基因复合杂合以及GJB3纯合变异组听力筛查未通过率明显高于阴性组,差异具有统计学意义。结论基因检测是对新生儿听力筛查很好的补充。对阳性患儿的追踪管理能够有效提高耳聋的诊断率,但基因筛查不能等同于诊断,应综合分析基因检测、听力筛查和影像学的结果,Sanger/二代测序可作为重要的补充检查手段。     

A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome

Concurrence of distinct genetic conditions in the same patient is not rare. Several cases involving neurofibromatosis type 1 (NF1) have recently been reported, indicating the need for more extensive molecular analysis when phenotypic features cannot be explained by a single gene mutation. Here, we describe the clinical presentation of a boy with a typical NF1 microdeletion syndrome complicated by cleft palate and other dysmorphic features, hypoplasia of corpus callosum, and partial bicoronal craniosynostosis caused by a novel 2bp deletion in exon 2 of Meis homeobox 2 gene (MEIS2) inherited from the mildly affected father. This is only the second case of an inherited MEIS2 intragenic mutation reported to date. MEIS2 is known to be associated with cleft palate, intellectual disability, heart defects, and dysmorphic features. Our clinical report suggests that this gene may also have a role in cranial morphogenesis in humans, as previously observed in animal models.     

多学科协作健康教育对乳腺癌放化疗患者自我效能和心理状况的影响

目的探讨多学科协作健康教育对乳腺癌放化疗患者自我效能和心理状况的影响。方法将200例乳腺癌放化疗患者按住院时间随机分为观察组(2019年1月—2019年6月)102例和对照组(2018年7月—2018年12月)98例,对照组实施常规健康教育,观察组实施多学科协作健康教育,采用自我效能评价量表(GSES)、焦虑和抑郁自评量表(SAS、SDS)对两组患者干预前后自我效能感、心理状态进行评价。结果两组干预前后自我效能评分、焦虑和抑郁评分差异均有统计学意义(P<0.05);干预后,观察组自我效能评分高于对照组(P<0.05),焦虑及抑郁评分均低于对照组(P<0.05)。结论多学科协作健康教育能有效提高乳腺癌放化疗患者自我效能感,改善患者焦虑、抑郁状况。     

诱导加同步时辰化疗联合调强放射治疗鼻咽癌的前瞻性随机对照研究

目的 分析诱导化疗加同步时辰化疗与同步常规化疗联合调强放疗治疗局部晚期鼻咽癌的不良反应、淋巴免疫功能及疗效.方法 将60例局部晚期鼻咽癌患者采用信封法随机分组,试验组为诱导化疗加同步时辰化疗联合调强放疗,对照组为诱导化疗加同步常规化疗联合调强放疗.两组均采用2个周期多西他赛+顺铂+5-氟尿嘧啶诱导化疗,同步化疗均采用顺铂,试验组采用时辰给药方式,对照组采用常规静脉给药方式.观察两组的不良反应、淋巴免疫功能及疗效.结果 同步放化疗期间试验组恶心(Z=2.50,P＜0.05)、呕吐(Z=3.31,P＜0.05)较对照组轻.同步放化疗后试验组CD4 +/CD8+高于对照组(t=3.34,P＜0.05).两组诱导化疗加同步放化疗的疗效差异无统计学意义(P＞0.05).结论 在不降低疗效的情况下,时辰给药方式能减轻恶心、呕吐不良反应,改善免疫功能,有可能成为鼻咽癌一种更合理的治疗方式.     

替吉奥联合奥沙利铂或奈达铂同步放疗治疗局部进展期食管鳞癌的临床观察

目的 比较替吉奥联合奥沙利铂（OXA）或奈达铂（NDP）同步放疗治疗局部进展期食管鳞癌的临床疗效和相关不 良反应。方法 选择局部进展期食管鳞癌患者72 例,随机分为观察组（38 例）和对照组（34 例）,两组均采用同步放化疗。观察组采用替吉奥联合OXA 治疗,OXA 剂量为130mg/m2,静脉滴注,d1,替吉奥40mg/m2,早晚各1 次口服,d1~14。对照组采用NDP,剂量为80mg/m2,静脉滴注,d1,其余治疗方法同观察组。两组患者放、化疗同时开始,3周为1 个疗程,共化疗2个疗程。比较两组患者治疗后的临床疗效、生存期及不良反应情况。结果 观察组和对照组近期总有效率分别为81.6%和82.4%,两组比较无统计学差异（P＞0.05）;观察组和对照组患者1、2、3 年生存率分别为86.8%、57.9%、28.9%和85.3%、55.9%、29.4%,两组比较均无统计学差异（均P ＞0.05）。观察组患者外周神经毒性反应发生率高于对照组（P＜0.05）;而在骨髓抑制、放射性食管炎及放射性肺炎等其他方面的不良反应发生率均类似于对照组,两组比较均无统计学差异（均P＞0.05）。结论在局部进展期食管癌同步放化疗中,替吉奥联合OXA 方案与替吉奥联合NDP 方案患者的近期有效率与远期生存率相当,有效性和耐受性都较好,值得进一步 前瞻性探索。     

直肠腔内剪切波弹性成像对局部进展期直肠癌新辅助放化疗后T分期的价值

目的探讨经直肠腔内超声弹性成像对局部进展期直肠癌新辅助放化疗后T分期的应用价值。 方法收集就诊于中国医学科学院肿瘤医院的局部进展期直肠癌患者57例,均于术前接受新辅助放化疗,并进行根治性手术。所有患者新辅助放化疗前后行经直肠腔内超声（ERUS）及剪切波弹性成像（SWE）检查。以术后病理为金标准,评价ERUS及SWE对直肠癌新辅助放化疗后T分期的准确性。 结果ERUS对局部进展期直肠癌新辅助放化疗后T分期的诊断准确率为59.6%（34/57）。ERUS判断肿瘤局限于肠壁（T0~T2）的准确性为39.3%（11/28）。46.2%（6/13）的ypT0期患者被过高分期。放化疗前后,杨氏模量最大值（Emax）平均值分别为（103.27±29.23）kPa、（49.91±32.67）kPa,差异有统计学意义（t=6.236,P<0.001）。新辅助治疗后病理T分期越高,Emax平均值随之升高。以放化疗后病灶Emax构建ROC曲线,选取58 kPa作为最佳诊断临界点时,诊断放化疗后残余病变局限于肠壁内的敏感性、特异性、准确性分别为76.2%、86.4%、78.9%;以43 kPa为最佳诊断临界点,诊断ypT0期的敏感性、特异性、准确性分别为100%、84.6%、89.7%,均较ERUS有改善,说明SWE可提高新辅助治疗后直肠癌再分期的准确性,有助于临床治疗方案的制定。 结论经直肠腔内SWE可提高局部进展期直肠癌新辅助放化疗后T分期的准确性,可丰富现有影像检查方法。     

直肠癌新辅助治疗后不同等待时间对术后病理和预后的影响

目的探讨中低位直肠癌术前新辅助治疗后不同等待时间对术后病理及预后的影响。 方法回顾性分析2013年1月~2018年12月期间于江苏省人民医院行新辅助放化疗的77例进展期中低位直肠癌患者临床资料,按照新辅助治疗后术前等待时间分为Ⅰ组43例（6~8周）和Ⅱ组34例（9~12周）,比较两组术后病理及预后情况。 结果两组患者新辅助前的一般资料如性別、年龄、cTNM分期及CEA水平等比较差异均无统计学意义（P>0.05）。术后病理结果提示：Ⅱ组术后病理淋巴结阳性率显著低于Ⅰ组（20.6% vs. 46.5%,P=0.018）。Ⅰ组和Ⅱ组pCR率分别为18.6%和17.6%,二者差异无统计学意义（χ²=0.012,P=0.914）。Ⅰ组共有14例患者（32.6%,14/43）肿瘤消退明显,仅剩下少量镜下癌灶或无肿瘤残留,Ⅱ组共有13例患者（38.2%,13/34）肿瘤消退明显,两组比较差异无统计学意义（Z=-0.702,P=0.483）。两组术后并发症发生率及远期肿瘤复发及转移差异无统计学意义（P>0.05）。 结论延长新辅助放化疗至手术的时间间隔至9~12周较6~8周能进一步降低淋巴结的阳性率,但对pCR率及肿瘤消退分级评分并无影响。对术后短期并发症发生情况以及长期复发及转移等情况也未产生较大影响。延期手术对患者来说利弊共存,因此应根据患者病情制定个体化治疗策略。     

Prognostic value of neutrophil-to-lymphocyte ratio in patients treated with concurrent chemoradiotherapy for locally advanced oesophageal cancer

BackgroundWe performed a retrospective analysis of Asian patients with locally advanced oesophageal cancer to test the hypothesis that an elevated neutrophil-to-lymphocyte ratio is associated with a poor survival rate after definitive concurrent chemoradiotherapy.MethodsIn total, 138 patients diagnosed with locally advanced oesophageal cancer (TNM classification of malignant tumours stage II or III) who were treated with definitive concurrent chemoradiotherapy between January 2005 and December 2010 were retrospectively analysed. Definitive concurrent chemoradiotherapy was performed using two different chemotherapy regimens.ResultsThe median follow-up duration was 39.5 months (range 1.1–93.4). The median progression-free survival was 14.0 months, and the median overall survival was 19.9 months. Compared with the low (<2.0) neutrophil-to-lymphocyte ratio group (n = 43, 31.2%), the high (≥2.0) neutrophil-to-lymphocyte ratio group (n = 95, 68.8%) exhibited significant decreases in the durations of both progression-free survival and overall survival. Using multivariate analysis, an elevated neutrophil-to-lymphocyte ratio was also significantly associated with decreased progression-free survival (HR 1.799; 95% CI, 1.050–3.083; P = 0.032) and overall survival duration (HR 2.115; 95% CI, 1.193–3.749; P = 0.010).ConclusionsThe pretreatment neutrophil-to-lymphocyte ratio is a useful prognostic marker in patients with locally advanced oesophageal cancer treated with definitive concurrent chemoradiotherapy.