康柏西普不同给药方案治疗视网膜分支静脉阻塞继发黄斑水肿

目的：对比康柏西普1+PRN和3+PRN方案玻璃体腔注射治疗BRVO继发ME的短期临床疗效。

方法：前瞻性随机对照研究,选取BRVO继发ME患者共40例40眼,随机分入1+PRN组18眼和3+PRN组22眼,对比两组患者BCVA和CMT变化及平均注药次数,分析视力预后的影响因素。

结果：治疗后6mo,3+PRN组BCVA(LogMAR)由0.86±0.22提高到0.41±0.12,CMT由517.4±75.1μm降低到280.1±41.8μm, 1+PRN组BCVA由0.79±0.20提高到0.42±0.14,CMT由472.7±80.7μm降低到271.6±39.6μm,治疗前后各时间点组间BCVA和CMT比较无差异(P>0.05)。3+PRN、1+PRN组平均注药次数分别为3.64±0.66、2.78±0.94次(P>0.05))。多元回归分析中,年龄、病程、基线BCVA、椭圆体带完整性表现出和良好的视力预后有关。

结论：康柏西普1+PRN和3+PRN方案治疗BRVO继发ME在短期内可以取得类似的疗效。     

Expression and role of calcitonin gene-related peptide in mouse Aspergillus fumigatus keratitis

AIM: To investigate the expression and role of calcitonin gene-related peptide (CGRP) in the mouse models induced by Aspergillus fumigatus (A. fumigatus). METHODS: C57BL/6 mice were randomized into a control group and A. fumigatus keratitis group. The cornea photography was assessed under the slit lamp and the clinical score was recorded after infection. Western blot, real-time polymerase chain reaction (PCR) and immunohistofluorescence analysis were applied to detect CGRP expression in cornea of both groups. In vitro, tests were conducted with C57BL/6 mice macrophages to investigate CGRP expression after interaction with A. fumigatus. Cytokines expression induced by exogenous CGRP and the antagonist CGRP8-37 in A. fumigatus-exposed macrophages was evaluated by real-time PCR and ELISA. RESULTS: The cornea expression of CGRP was significantly elevated in C57BL/6 mice corneas and macrophages after A. fumigatus infection. After treatment with exogenous CGRP, the levels of interleukin-1β (IL-1β), tumor necrosis factor-α (TNF-α) and IL-6 were reduced, and IL-10 level was increased in the A. fumigatus stimulated-macrophages. However, IL-1β, TNF-α and IL-6 levels were upregulated after pretreatment of CGRP8-37. But the mRNA levels of MIP-2, TGF-β and IL-10 were not changed. CONCLUSION: This study provides evidence that A. fumigatus increased CGRP expression. CGRP may play a protective role against inflammation in A. fumigatus keratitis.     

强脉冲光联合睑板腺按摩治疗睑板腺功能障碍的短期疗效

目的：评估强脉冲光（IPL）联合睑板腺按摩（MGX）（IPL/MGX）治疗睑板腺功能障碍（MGD）的短期 疗效。方法：前瞻性临床研究。选择2016年11月至2017年12月于汉口爱尔眼科医院门诊连续就诊 的MGD患者55例,最终完成随访的有48例（96眼）,双眼均行IPL/MGX治疗,每3周治疗1次,共3次。 在治疗前、治疗结束后1周进行眼表疾病指数（OSDI）问卷调查、泪膜破裂时间、角膜染色、睑板腺 功能及成像、结膜眼红评分、共聚焦显微镜下睑板腺及蠕形螨检查等。使用配对t检验、Wilcoxon 秩和检验及Spearman秩相关分析对数据进行处理。结果：IPL/MGX治疗结束后1周与治疗前比较, OSDI评分降低（t=2.300,P=0.024）,睑板腺分泌能力与睑酯质量均得到改善（Z=-3.617,P<0.001;t= 2.472,P=0.017）,角膜染色评分、球结膜眼红评分降低（Z=-2.757,P=0.006;t=2.040,P=0.044）,睑 板腺腺周炎症细胞密度下降（t=4.765,P<0.001）,睫毛根部蠕形螨总数减少（t=2.121,P=0.037）。睑 板腺萎缩面积<50%的MGD患者,治疗后症状评分、眼表炎症状态及睑板腺功能显著改善,睑板腺 萎缩面积≥70%的MGD患者,治疗前后各项指标均未见明显改善。结论：IPL/MGX可明显改善睑板 腺萎缩程度尚轻的MGD患者主观症状及睑板腺功能,减轻患者眼表炎症,减少眼蠕形螨数量,降低 眼表损害。     

CCLG-ALL2008方案治疗不同分子生物学特征儿童急性淋巴细胞白血病的长期疗效分析

目的 探讨CCLG-ALL2008方案治疗具有不同分子生物学特征的初诊儿童急性淋巴细胞白血病（ALL）的长期疗效。方法 选取按照CCLG-ALL2008方案治疗的940例初诊ALL患儿为研究对象,针对不同分子生物学特征ALL的长期疗效进行回顾性分析。结果 940例ALL患儿中,男570例,女370例,中位年龄5（1~15）岁,中位随访时间65（3~123）个月。完全缓解（CR）率为96.7%,预期10年总体生存（OS）率为（76.5±1.5）%,无事件生存（EFS）率为（62.6±3.0）%。患儿经治疗达CR后,总复发率为21.9%,其中ETV6-RUNX1阳性患儿复发率最低,且易于晚期复发;MLL重排阳性患儿复发率最高,且易于早期复发。ETV6-RUNX1阳性患儿的预期10年OS率明显高于伴有TCF3-PBX1阳性、BCR-ABL阳性、MLL重排及无分子生物学特征患儿（P < 0.05）。ETV6-RUNX1阳性患儿的预期10年EFS率明显高于伴有BCR-ABL阳性和MLL重排患儿（P < 0.05）。结论 分子生物学特征是影响ALL患儿长期预后的指标,MLL重排、BCR-ABL融合基因阳性是预后的不良指标,ETV6-RUNX1融合基因阳性患儿长期生存率较高。     

Wnt通路中散乱蛋白在儿童急性淋巴细胞白血病中的表达及意义

目的 探讨Wnt信号通路中散乱蛋白（DVL）对儿童急性淋巴细胞白血病（ALL）发病及预后的意义。方法 选取33例新发ALL患儿为病例组,根据危险度将ALL患儿分为低危组（n=14）、中危组（n=5）和高危组（n=14）;29例免疫性血小板减少症（ITP）患儿为对照组。采集病例组患儿初发及诱导治疗第33天时,以及对照组骨髓血各2 mL,采用实时荧光定量聚合酶链反应（qRT-PCR）检测骨髓血细胞DVL1、DVL2、DVL3 mRNA表达。结果 病例组初发期DVL1、DVL2、DVL3 mRNA表达水平高于缓解期及对照组（P < 0.05）,与对照组比较,病例组缓解期DVL2 mRNA水平升高（P < 0.05）。DVL2 mRNA表达水平在病例组初发期及缓解期均高于DVL 1、DVL 3 mRNA （P < 0.05）。高、中危组DVL1、DVL2 mRNA表达水平高于低危组（P < 0.05）。DVL2 mRNA表达水平在低、中、高危组均高于DVL1、DVL3 mRNA （P < 0.05）。结论 Wnt通路中DVL,尤其是DVL2的表达变化可能对儿童ALL的发病及预后有一定意义。     

儿童身材矮小的病因分析及遗传学诊断

目的 探讨身材矮小患儿的病因分布及遗传学诊断。方法 回顾性分析86例身材矮小患儿的病因分布及临床特征。结果 86例身材矮小患儿中,病因有6种,以特发性矮小症（ISS,41%）和生长激素缺乏症（GHD,29%）最常见,遗传性疾病（14%）次之。将遗传性疾病组与ISS组、GHD组比较显示,各组患儿就诊年龄、身高、出生身长、出生体重、父母身高及胰岛素样生长因子1（IGF-1）水平差异均无统计学意义（P > 0.05）,但遗传性疾病组身高距同年龄同性别个体身高第3百分位数的差值（ΔP3）和身高标准差评分（HtSDS）显著低于ISS组（P < 0.05）,但与GHD组相比差异无统计学意义（P > 0.05）。对遗传性疾病组患儿的临床表现进行分析,显示不同遗传性疾病表型谱存在异质性及表型重叠性。结论 ISS、GHD和遗传性疾病是儿童身材矮小的主要病因。对存在严重身材矮小的患儿,在除外GHD外,有必要进一步行遗传学检查明确诊断。     

产妇年龄对新生儿不良结局影响的回顾性队列研究

目的 探讨不同怀孕年龄单胎妊娠产妇和新生儿不良结局的关系。方法 采用回顾性队列研究的方法,通过截取产科和新生儿科电子病例资料,获得2006年1月至2018年12月复旦大学附属妇产科医院住院单胎妊娠孕妇的社会人口学资料、孕产史及本次妊娠情况。按照分娩年龄不同将产妇分为低龄(<20岁)、适龄(~34岁)和高龄组(≥35岁)。分析各年龄组产妇相关特征的基线和妊娠的新生儿结局的发生率。组间比较采用χ²或Fisher精确检验。采用多自变量logistic回归模型,进行产妇亚组分析,以~34岁组为参考组,对<20、≥35岁组产妇,通过比值比(Crude OR)、调整比值比(Adjusted OR)和95％CI表示各产妇亚组相关的新生儿不良结局的风险。结果 2006至2014年高龄产妇比例6.9%~9.9%,2015、2016、2017和2018高龄产妇的比例分别为13.1%、13.8%、17.6%和19.6%。低龄组、高龄组在流动人口、初产妇、剖宫产比例方面与适龄组相比差异均有统计学意义(P均<0.001)。高龄组较适龄组胎产式为非头位者、不良孕产史、男性新生儿比例增加(P<0.05)。校正后低龄组和高龄组早产儿的发生率分别是适龄组的1.88倍(95%CI:1.34~2.65)和1.31倍(95%CI:1.21~1.42)。低龄组和高龄组中期早产儿的发生率分别是适龄组的2.83倍(95%CI:1.45~5.54)和1.34倍(95%CI:1.13~1.60),低龄组和高龄组晚期早产儿的发生率分别是适龄组的1.75倍(95%CI:1.22~2.51)和1.27倍(95%CI:1.17~1.36)。低龄组和高龄组低出生体重儿的发生率分别是适龄组的2.35倍(95%CI:1.66~3.33)和1.26倍(95%CI:1.16~1.37)。高龄组出生缺陷发生率是适龄组的1.39倍(95%CI:1.20~1.62)。结论 与适龄组相比,高龄组和低龄组产妇增加了早产、中期早产儿、晚期早产儿和低出生体重的风险。对低龄产妇应加强流动人口的管理,定期产检。对高龄产妇,应预防出生缺陷的发生,积极处理妊娠期并发症,加强孕中后期监护,预防围生期感染。本研究结果有助于不同怀孕年龄产妇的产前咨询和管理。     

Use of the Ion AmpliSeq Cancer Hotspot Panel in clinical molecular pathology laboratories for analysis of solid tumours: With emphasis on validation with relevant single molecular pathology tests and the Oncomine Focus Assay

Targeted application of next-generation sequencing (NGS) technology allows detection of specific mutations that can provide treatment opportunities for cancer patients. We evaluated the applicability of the Ion AmpliSeq Cancer Hotspot Panel V2 (CHV2) using formalin-fixed, paraffin-embedded (FFPE) tissue of clinical specimens.Thirty-five FFPE tumour samples with known mutational status were collected from four different hospitals and sequenced with CHV2 using an Ion Chef System and Ion S5 XL system. Out of 35 cases, seven were sequenced with Oncomine focus Assay Panel for comparison. For the limit of detection test, we used an FFPE reference standard, a cell line that included an engineered 50% EGFR T790?M in an RKO cell line background. Coverage analysis results including number of mapped reads, on target percent, mean depth, and uniformity were not different according to hospitals. Sensitivity for mutation detection down to 3% was demonstrated. NGS results showed 100% concordance with the results from single molecular pathology tests Assay in 30 cases with 24 known positive mutations and 14 known negative mutations, and another NGS panel of the Oncomine focus in seven cases.The CHV2 NGS test for solid tumours using Ion chef system and S5 XL system in clinical molecular pathology laboratories for analysis of solid tumours could be routinely used and could replace some single molecular pathology tests after a stringent and thorough validation process.     

CD20‐positive plasmablastic lymphoma with excellent response to bortezomib combined with rituximab

As a distinct type of aggressive mature large B‐cell lymphoma, plasmablastic lymphoma (PBL) poses diagnostic and treatment challenges. PBL is distinguished from other B‐cell lymphomas by the presence of plasmacytic differentiation markers such as CD38, CD138, and MUM1. Clinically, PBLs from oral and extra‐oral sites are rapidly progressive tumors with frequent relapse after treatment with standard diffuse large B‐cell lymphoma regimens. Here, we report a near‐complete response of one patient with relapsed PBL following treatment with a non‐cytotoxic regimen containing bortezomib, rituximab, and dexamethasone.