Philippine retinoblastoma initiative multi-eye center study 2010-2020

AIM:To provide a comprehensive and more representative national data on the disease,especially on treatment options and outcomes,and to determine access of retinoblastoma patients from Luzon,Visayas and Mindanao to eye care,and determine if access is associated with delay in consultation,staging and outcomes.METHODS:Cohort study of retinoblastoma patients seen in eleven institutions located in the three major areas of the Philippines namely Luzon,Vizayas and Mindanao from 2010-2020.RESULTS:Totally 636 patients,involving 821 eyes,were included.Majority(57%)were from Luzon and were seen in institutions in Luzon(72%).Annually,58±10 new cases were seen with 71%having unilateral disease.Median delay of consultation remained long at 9(3,17)mo,longest in patients with unilateral disease(P<0.02)and those from the Visayas(P<0.003).Based on the International Retinoblastoma Staging System,only 35%of patients had Stage 1 while 47%already had extraocular disease.Enucleation was the most common treatment received by 484 patients while intravenous chemotherapy was received by 469.There were 250(39%)patients alive,195(31%)dead,85(13%)abandoned,17(3%)refused and 89(14%)with no data.CONCLUSION:This study presents the largest cohort of retinoblastoma patients in the Philippines in terms of patients’and participating institutions’number and geographical location and type of institution(private and public).It also presents more comprehensive data on the treatments used and outcomes(survival,globe salvage,and vision retention rates).Delay in consultation was still long among patients leading to advanced disease stage and lower survival rate.Despite increasing capacity to diagnose and manage retinoblastoma in the country,the delay of consultation remains long primarily due to accessibility issues to eye care institutions especially in the Visayas and financial concerns.The delay was still significant that overall survival rate remain low.

Prox1 Suppresses Proliferation and Drug Resistance of Retinoblastoma Cells via Targeting Notch1

Objective Retinoblastoma(RB)is a prevalent type of eye cancer in youngsters.Prospero homeobox 1(Prox1)is a homeobox transcriptional repressor and downstream target of the proneural gene that is relevant in lymphatic,hepatocyte,pancreatic,heart,lens,retinal,and cancer cells.The goal of this study was to investigate the role of Prox1 in RB cell proliferation and drug resistance,as well as to explore the underlying Notch1 mechanism.Methods Human RB cell lines(SO-RB50 and Y79)and a primary human retinal microvascular endothelial cell line(ACBRI-181)were used in this study.The expression of Prox1 and Notch1 mRNA and protein in RB cells was detected using quantitative real time-polymerase chain reaction(RT-qPCR)and Western blotting.Cell proliferation was assessed after Prox1 overexpression using the Cell Counting Kit-8 and the MTS assay.Drug-resistant cell lines(SO-RB50/vincristine)were generated and treated with Prox1 to investigate the role of Prox1 in drug resistance.We employed pcDNA-Notch1 to overexpress Notch1 to confirm the role of Notch1 in the protective function of Prox1.Finally,a xenograft model was constructed to assess the effect of Prox1 on RB in vivo.Results Prox1 was significantly downregulated in RB cells.Overexpression of Prox1 effectively decreased RB cell growth while increasing the sensitivity of drug-resistant cells to vincristine.Notch1 was involved in Prox1’s regulatory effects.Notch1 was identified as a target gene of Prox1,which was found to be upregulated in RB cells and repressed by increased Prox1 expression.When pcDNA-Notch1 was transfected,the effect of Prox1 overexpression on RB was removed.Furthermore,by downregulating Notch1,Prox1 overexpression slowed tumor development and increased vincristine sensitivity in vivo.Conclusion These data show that Prox1 decreased RB cell proliferation and drug resistance by targeting Notch1,implying that Prox1 could be a potential therapeutic target for RB.

Decoding Retinoblastoma: Differential Gene Expression

Background: Retinoblastoma, the most common intraocular pediatric cancer, presents complexities in its genetic landscape that necessitate a deeper understanding for improved therapeutic interventions. This study leverages computational tools to dissect the differential gene expression profiles in retinoblastoma. Methods: Employing an in silico approach, we analyzed gene expression data from public repositories by applying rigorous statistical models, including limma and de seq 2, for identifying differentially expressed genes DEGs. Our findings were validated through cross-referencing with independent datasets and existing literature. We further employed functional annotation and pathway analysis to elucidate the biological significance of these DEGs. Results: Our computational analysis confirmed the dysregulation of key retinoblastoma-associated genes. In comparison to normal retinal tissue, RB1 exhibited a 2.5-fold increase in expression (adjusted p Conclusions: Our analysis reinforces the critical genetic alterations known in retinoblastoma and unveils new avenues for research into the disease’s molecular basis. The discovery of chemoresistance markers and immune-related genes opens potential pathways for personalized treatment strategies. The study’s outcomes emphasize the power of in silico analyses in unraveling complex cancer genomics.

Multi-distortion suppression for neutron radiographic images based on generative adversarial network

Neutron radiography is a crucial nondestructive testing technology widely used in the aerospace,military,and nuclear industries.However,because of the physical limitations of neutron sources and collimators,the resulting neutron radiographic images inevitably exhibit multiple distortions,including noise,geometric unsharpness,and white spots.Furthermore,these distortions are particularly significant in compact neutron radiography systems with low neutron fluxes.Therefore,in this study,we devised a multi-distortion suppression network that employs a modified generative adversarial network to improve the quality of degraded neutron radiographic images.Real neutron radiographic image datasets with various types and levels of distortion were built for the first time as multi-distortion suppression datasets.Thereafter,the coordinate attention mechanism was incorporated into the backbone network to augment the capability of the proposed network to learn the abstract relationship between ideally clear and degraded images.Extensive experiments were performed;the results show that the proposed method can effectively suppress multiple distortions in real neutron radiographic images and achieve state-of-theart perceptual visual quality,thus demonstrating its application potential in neutron radiography.

Deep learning automation of radiographic patterns for hallux valgus diagnosis

Artificial intelligence(AI)and deep learning are becoming increasingly powerful tools in diagnostic and radiographic medicine.Deep learning has already been utilized for automated detection of pneumonia from chest radiographs,diabetic retinopathy,breast cancer,skin carcinoma classification,and metastatic lymphadenopathy detection,with diagnostic reliability akin to medical experts.In the World Journal of Orthopedics article,the authors apply an automated and AIassisted technique to determine the hallux valgus angle(HVA)for assessing HV foot deformity.With the U-net neural network,the authors constructed an algorithm for pattern recognition of HV foot deformity from anteroposterior highresolution radiographs.The performance of the deep learning algorithm was compared to expert clinician manual performance and assessed alongside clinician-clinician variability.The authors found that the AI tool was sufficient in assessing HVA and proposed the system as an instrument to augment clinical efficiency.Though further sophistication is needed to establish automated algorithms for more complicated foot pathologies,this work adds to the growing evidence supporting AI as a powerful diagnostic tool.

Resolution analysis of thermal neutron radiography based on accelerator-driven compact neutron source

Owing to the immobility of traditional reactors and spallation neutron sources,the demand for compact thermal neutron radiography(CTNR)based on accelerator neutron sources has rapidly increased in industrial applications.Recently,thermal neutron radiography experiments based on a D-T neutron generator performed by Hefei Institutes of Physical Science indicated a significant resolution deviation between the experimental results and the values calculated using the traditional resolution model.The experimental result was up to 23%lower than the calculated result,which hinders the achievement of the design goal of a compact neutron radiography system.A GEANT4 Monte Carlo code was developed to simulate the CTNR process,aiming to identify the key factors leading to resolution deviation.The effects of a low collimation ratio and high-energy neutrons were analyzed based on the neutron beam environment of the CTNR system.The results showed that the deviation was primarily caused by geometric distortion at low collimation ratios and radiation noise induced by highenergy neutrons.Additionally,the theoretical model was modified by considering the imaging position and radiation noise factors.The modified theoretical model was in good agreement with the experimental results,and the maximum deviation was reduced to 4.22%.This can be useful for the high-precision design of CTNR systems.

Epidemiological aspect of retinoblastoma in the world: a review of recent advance studies

·AIM: To collect and present updated evidence about epidemiological aspects of retinoblastoma(Rb) in the world.·METHODS: A comprehensive search without the time and language restrictions was conducted in international databases, including MEDLINE, Scopus, Web of Science, and Pub Med. The search keywords were “retinoblastoma” OR “retinal Neuroblastoma” OR “retinal glioma” OR “retinoblastoma eye cancer” OR “retinal glioblastoma”.·RESULTS: The worldwide incidence of Rb is 1 in 16 000-28 000 live births, but was higher in developing compared to developed countries. Several attempts for improving early detection and treatment had increased the Rb survival rate from 5% to 90% in developed countries over the past decade, but its survival was lower in developing countries(about 40% in low-income countries) and the majority of mortalities occurred in developing countries. The etiology of Rb could be viewed as genetics in the heritable form and environmental and lifestyle factors in the sporadic form. Some environmental risk factors such as in vitro fertilization;insect sprays;father’s occupational exposure to oil mists in metal working, and poor living conditions might play a role in the occurrence of the disease. Although ethnicity might affect Rb incidence, sex has no documented effect and the best treatment approaches were now ophthalmic artery chemosurgery and intravitreal chemotherapy.·CONCLUSION: Determining the role of genetics and environmental factors helps to accurately predict the prognosis and identify the mechanism of the disease, which can reduce the risk of tumor development.

Clinical and genetic characteristics of retinoblastoma patients in a single center with four novel RB1 variants

AIM:To assess the clinical and genetic characteristics of children diagnosed with retinoblastoma(RB)at Gazi University Faculty of Medicine’s Department of Pediatric Oncology.METHODS:All cases diagnosed with RB and received treatment and follow-up in the Ophthalmology and Pediatric Oncology Department,October 2016 to May 2021 were evaluated retrospectively.The RB1 gene was analyzed by next-generation sequencing(NGS)technique in DNAs obtained from peripheral blood samples of the patients.RESULTS:This study included 53 cases with 67 RBaffected eyes during the study period.The mean age was 24.6(median:18.5,range:3–151)mo.There were 15(22.3%)Group D eyes and 39(58.2%)Group E eyes.The RB1 gene was sequenced by the NGS method in 19 patients.Heterozygous RB1:NM_000321.3:c.54_76del(p.Glu19AlafsTer4)variant was detected in a 15-month-old female with bilateral RB.Heterozygous RB1:NM_000321.3:c.1814+3A>T variant was detected in a 5.5-month-old male with bilateral RB.The intronic RB1:NM_000321.3:c.1332+4A>G variant was detected in patient 14,a 13-month-old male with unilateral RB.The RB1:NM_000321.3:c.575_576del(p.Lys192SerfsTer10)variant was found in an 18-month-old female with an allele frequency of 37%.These variants have not been reported in the literature and mutation databases.CONCLUSION:Four novel variants are described and one of them is found in two different patients.This data is crucial for assessing prognosis.It serves as a guide for estimating the long-term risk of secondary malignancy as well as the short-term risk of developing additional malignancies in the same eye and the other eye.

Epigenetic and Posttranscriptional Regulation in Retinoblastoma

The Retinoblastoma 1 (RB1) gene, located on chromosome 13q14 and encodes the tumor-suppressor retinoblastoma protein, is the cause of Retinoblastoma. The mutational inactivation of both gene alleles brings on this cancer. Retinoblastoma (RB) high-risk histopathological characteristics indicate metastasis or local recurrence with rapid progresses following RB1 inactivation. There is growing interest in regulatory activities unconnected to the coding region of the genome, or exome, in addition to epigenetic control mechanisms. The altered epigenome is significant, though by no means the only, problem in the etiology of Retinoblastoma. After all, cancer development is a multistep process in which numerous dissimilar genetic, epigenetic, and posttranscriptional modifications result in a shared phenotype. This study emphasizes the most recent developments in posttranscriptional change and epigenetics related to retinoblastoma tumor biology. Here, we highlight the novel biomarkers the retinoblastoma tumor has expressed to improve patient survival.

股骨头坏死ARCO 3A期平片分期准确性及误分期原因分析

目的评估X线平片对股骨头坏死ARCO3A期分期的准确性,并分析其误分期的原因。方法回顾性分析2017年1月至2023年7月同期行髋关节正、蛙式位X线及CT检查,且髋关节CT分期为ARCO3A期的158例股骨头坏死患者,其中14例为双侧ARCO3A期,共计172例ARCO3A期股骨头坏死,F/M=67/91,平均年龄43.7±11.8岁。观察髋关节X线正、蛙式位图像进行ARCO分期并统计结果。结果髋关节X线分期为ARCO 3A期139例,误分期为ARCO 2期33例,准确率为80.8%;对照同期髋关节CT图像,X线误分期病例中未发现软骨下骨折6例(18.2%)、未发现坏死区骨折4例(12.1%)、未发现股骨头局限塌陷23例(69.7%)。结论X线对股骨头坏死ARCO 3A期分期的准确性高,但仍存在误分期的状况。在临床工作中,正位结合蛙式位,仔细观察关节面局部轻微不光整及软骨下、坏死区骨折等征象有助于提高X线平片对股骨头坏死ARCO3A期分期的准确性。

胸部CT图像质量评价与辐射剂量的临床应用研究

目的:归纳和分析影响胸部CT图像质量的因素,进一步对照分析常规剂量组和低剂量组两组图像质量有无差异,以论证胸部CT低剂量检查的可行性。方法:选取150例胸部CT查体的患者,A组为常规剂量组,管电压120kV,管电流自动调节;B组为低剂量组,管电压100kV,管电流自动调节。参照胸部CT的图像质量评价标准对常规剂量组和低剂量组图像质量进一步作出主观评价。对辐射剂量、信噪比等客观数据进行统计学处理,以P<0.05为差异有统计学意义。并与主观评价相比较。结果:主、客观评价两组图像质量均无统计学意义,A组辐射剂量与B组辐射剂量有统计学意义。结论:影响图像质量的因素包括患者的因素、设备的因素以及操作者的因素,胸部CT采用100kV低剂量检查可以作为常规扫描方案,获得的图像可以满足影像诊断的要求,具有可行性。

中国先进研究堆瞬发γ元素成像技术研究

无损分析样品内部的元素分布,对于材料、考古、地质科学等领域的研究具有重要意义。基于瞬发γ活化分析方法,结合中子照相技术,分析了模拟样品的结构和对称性,首次利用中国先进研究堆(CARR)水平孔道聚焦的微束中子束流,开展样品瞬发γ扫描分析和材料内部元素分布研究。通过蒙特卡罗软件(MCNP)对样品元素分布实验模型进行分析,模拟结果获得了样品不同区域的铜、铁、铝元素分布,基本实现了元素空间分辨。MCNP计算结果表明在瞬发γ扫描分析中,优化准直几何参数和提高中子通量能进一步提高元素空间分辨和元素测量准确度。

番泻苷B通过Wnt/β-catenin通路抑制视网膜母细胞瘤HXO-Rb44细胞增殖、凋亡和侵袭

目的探究番泻苷B对视网膜母细胞瘤HXO-Rb44细胞增殖、凋亡、侵袭及Wnt/β-catenin信号通路的影响。方法通过采用不同剂量(0、5、10、20μmol/L)番泻苷B处理HXO-Rb44细胞,将细胞随机分为4组:Control组,番泻苷B 5、10、20μmol/L组。MTT法检测细胞活力;克隆形成实验检测克隆形成率;流式细胞仪检测细胞凋亡率;Transwell检测侵袭细胞数;细胞成球实验检测细胞成球直径和细胞成球数目;蛋白质印迹检测cleaved caspase-3、caspase-3、MMP-2、MMP-9、SOX2、OCT4、CD44、Wnt1、β-catenin蛋白表达。结果与Control组比较,番泻苷B 10、20μmol/L组细胞活力、克隆形成率显著降低(P<0.05),细胞凋亡率和cleaved caspase-3/caspase-3表达显著升高(P<0.05),侵袭细胞数和MMP-2、MMP-9蛋白表达显著降低(P<0.05),细胞成球直径、细胞成球数目和SOX2、OCT4、CD44蛋白表达显著降低(P<0.05),Wnt1、β-catenin蛋白表达显著降低(P<0.05)。结论番泻苷B可抑制视网膜母细胞瘤HXO-Rb44细胞增殖、侵袭和干细胞样特性,诱导细胞凋亡,抑制Wnt/β-catenin信号通路的活化。

俯卧与坐姿下籽骨轴位的X线影像质量的比较

目的:评估在坐姿下行籽骨轴位X线投照的影像质量。方法:收集2023年3—6月由于足部不适前来就诊的50例患者,对同一患者进行俯卧与坐姿两种姿势下籽骨轴位的DR检查,将获取的两组影像进行质量评估与比较。结果:俯卧与坐姿两种姿势下的影像合格率、EI、DAP在统计学上均不存在显著差异。结论:在拍摄籽骨轴位X线时,对于不能进行传统体位(俯卧)投照的患者,可在坐姿下进行投照,所获取的X线影像也能满足影像医生诊断需求。

基于倾向性评分逆概率加权法的视网膜母细胞瘤疗效评价及其预后影响因素分析

目的评估手术、化疗及手术联合化疗3种治疗方式对视网膜母细胞瘤(RB)的疗效,分析RB患者的预后影响因素。方法选取2000年1月1日-2019年12月31日美国监测、流行病学和最终结果(SEER)数据库登记的RB患者1188例临床资料进行回顾性分析。采用倾向性评分逆概率加权法(IPTW)对接受手术、化疗或手术联合化疗治疗的3组患者基线特征进行平衡。采用Log-rank检验比较3组患者的生存概率,采用Cox回归模型分析RB患者预后影响因素。结果共纳入RB1188例,其中手术组426例,化疗组200例,手术联合化疗组562例。经IPTW加权后,患者的年龄、性别、种族等基线资料均达到平衡(P>0.05)。Log-rank检验结果显示,加权前后3组生存曲线比较差异均有统计学意义(P<0.05);加权后,手术组患者生存情况明显优于化疗组和手术联合化疗组(P<0.05),化疗组与手术联合化疗组比较差异无统计学意义(P>0.05)。加权后患者1年、3年和5年的生存概率为:手术组99.7%、98.9%和98.6%;化疗组97.4%、95.8%和95.8%;手术联合化疗组97.9%、95.8%和95.0%。Cox回归分析结果显示,与手术组比较,化疗组患者特异性死亡风险比为1.367(95%CI 1.100~1.700),手术联合化疗组特异性死亡风险比为1.132(95%CI0.963~1.330);与RB病灶为1个的患者比较,RB病灶数≥2个的患者特异性死亡风险比为0.399(95%CI0.268~0.594)。结论RB患者接受治疗后生存概率较高;在控制年龄、性别等因素的影响后,3种治疗方式中手术的疗效更好;多灶性可能是RB患者预后的独立影响因素。

改良肺超声评分用于评估急性呼吸窘迫综合征严重程度

目的提出改良肺超声评分(LUS),观察其用于评估急性呼吸窘迫综合征(ARDS)严重程度的价值。方法回顾性分析33例突发ARDS患者肺超声及X线胸片等资料,根据氧合指数(OI)将患者归入中-重度组(n=16)及轻度组(n=17);比较组间LUS、改良LUS及肺水肿放射学(RALE)评分;绘制受试者工作特征(ROC)曲线,计算曲线下面积(AUC),分析影像学评分评估ARDS严重程度的效能;以Pearson相关分析观察ARDS患者影像学评分与OI的相关性,以及RALE评分与LUS及改良LUS的相关性。结果中-重度组LUS及改良LUS均高于轻度组(P均<0.05);RALE评分组间差异无统计学意义(P>0.05)。以LUS、改良LUS及RALE评分评估ARDS严重程度的AUC分别为0.809、0.853及0.640。ARDS患者LUS及改良LUS均与OI呈中度负相关(r=-0.570,P=0.001;r=-0.708,P<0.001),而RALE评分与OI无明显相关(r=-0.229,P=0.201)。ARDS患者RALE评分与LUS及改良LUS均呈中度正相关(r=0.588,P<0.001;r=0.502,P=0.003)。结论本研究提出的改良LUS可有效评估ARDS严重程度,且其效能优于LUS及RALE评分。

基于深度学习的胸部X线图像清晰度评价方法

目的 构建深度学习模型对胸部X线图像进行清晰度评价,并与放射科医师的主观评价对比,验证模型的效能。资料与方法 回顾性收集2015年6月—2022年8月安徽省590家医院共9 135幅胸部X线图像,组织放射科医师采用五级评分法对图像清晰度进行多人多次评价,单人评价结果为A、B,多人评价结果为C。构建基于ResNet-50的深度学习模型对胸部X线图像进行清晰度评价,以结果 C作为模型训练和测试数据,模型评价结果为D。由1名放射质控专家对模型评价结果和医师多人评价结果进行审核评价作为图像清晰度的参考标准,评价结果为E。采用Spearman相关、均方根误差(RMSE)和准确率验证模型的效能。结果 与参考标准E相比,D的平均准确率为0.85,高于C的0.84。A、B、C、D与E的ρ分别为0.58(0.54,0.62)、0.59(0.55,0.63)、0.74(0.71,0.77)和0.80(0.78,0.82),D与E的相关性最好。A与B的ρ为0.45(0.41,0.49),两次单人主观评价清晰度相关性较差。A、B、C、D与E的RMSE分别为0.99、0.94、0.72和0.71,D与E的RMSE小于人工评价结果。结论 本研究构建的模型能够准确评价胸部X线图像清晰度,通过深度学习方法可以降低人工评价的主观干扰,为临床放射图像清晰度评价提供有效、客观的工具。

婴幼儿视网膜母细胞瘤生存率预测列线图模型的构建

目的:构建预测婴幼儿视网膜母细胞瘤(RB)生存率的列线图。方法:收集2004年至2019年SEER数据库中929例RB患儿(0~3岁)的临床资料作为训练集,采用Cox回归分析筛选出婴幼儿RB生存的影响因素,并基于回归结果构建预测RB患儿3、5和10 a生存率的列线图。收集2010年至2019年郑州大学第一附属医院诊断的RB患儿111例为外部验证集。利用C指数、ROC曲线、校准曲线和决策曲线分析(DCA)评估列线图模型的预测价值。结果:以因RB死亡为终点事件,Cox回归分析结果显示,肿瘤基底直径≥15 mm、T3期、T4期、M1期和放化疗联合治疗是生存预后的危险因素,HR(95%CI)分别为3.049(1.459~7.782)、6.341(1.811~12.372)、9.554(6.054~13.989)、5.087(1.602~16.155)、10.452(1.180~19.598)。在训练集和外部验证集中,列线图模型预测的C指数(95%CI)分别为0.948(0.923~0.973)、0.858(0.728~0.987);在训练集中,列线图模型3、5和10 a生存率预测的AUC(95%CI)分别为0.966(0.946~0.986)、0.960(0.930~0.990)、0.934(0.906~0.962),在外部验证集中分别为0.825(0.769~0.881)、0.843(0.781~0.905)、0.868(0.796~0.940);校准曲线与标准曲线重合度较高,同时DCA显示模型具有理想的临床收益。结论:构建的列线图可用于婴幼儿RB生存率的预测,为临床个性化诊疗提供参考。

对比植入第二代无导线起搏器与传统双腔起搏器辐射剂量

目的对比植入第二代无导线起搏器(Micra AV)与传统双腔起搏器所致患者辐射剂量。方法回顾性分析74例因心动过缓接受植入起搏器患者,按照植入起搏器类型将其分为AV组(n=30)与传统组(n=44);比较2组透视时间、空气比释动能(AK)、剂量面积乘积(DAP)、电影序列数及电影合计帧数。结果AV组AK、电影DAP、电影序列数及电影合计帧数均高于传统组(P均<0.05);组间透视时间和透视DAP差异均无统计学意义(P均>0.05)。2组患者X线辐射投射范围基本一致,且多分布于躯体左半侧。结论相比植入传统双腔起搏器,植入Micra AV时患者所受电影采集辐射剂量更大,而透视所致辐射剂量无显著差异。

人工智能技术在视网膜母细胞瘤中的应用现状

视网膜母细胞瘤是一种常见于儿童的眼部恶性肿瘤,是威胁儿童视力和生命的主要原因之一。视网膜母细胞瘤的诊断和评估一直是临床的热点问题。在过去的几年,人工智能(AI)技术的应用在医学领域取得了显著进展,为视网膜母细胞瘤的诊断和治疗提供了新的机会和挑战,如利用AI算法分析海量临床数据,可以帮助医生更准确地诊断疾病,提供个性化的治疗方案。此外,AI技术还在医学图像分析、基因组学研究等多方面发挥重要作用,可以助力新药开发、改善患者预后。本文结合近年研究情况,综述AI在视网膜母细胞瘤中的应用进展。