Clinico-hematological and Outcome Profile of Pediatric B-other-ALL and BCR::ABL1-like pre-B-ALL: An Integrated Genomic Study From North India

PurposeBCR::ABL1-like pre-B-ALL comprises a myriad of genetic lesions making molecular diagnosis challenging and expensive. Its frequency and outcome are less studied in resource-constraint settings.Methods154 pre-B-ALL cases (0-12 years) were enrolled as group 1 (37 cases of B-other-ALL) and group 2 (117 patients with recurrent translocations/ hyperdiploidy). Group 1 was evaluated for BCR::ABL1-like genetic lesions and copy-number abnormalities (CNAs) as per our published PACE approach supplemented with targeted RNA sequencing.ResultsBCR::ABL1-like frequency was 5.2% (8 of 154) and 22% (8 of 37) with the PACE approach alone in the whole and B-other-ALL cohort, respectively. The addition of targeted RNA-sequencing had led to the frequency increasing to 9% (14 of 154) and 38% (14 of 37) in the whole and B-other-ALL cohort, respectively. P2RY8::CRLF2, IGH::CRLF2, and RCSD1::ABL1 were noted in 8 (57.1%), 4 (28.6%), and 2 (14.3%) patients, respectively. CNAs were noted in 56.7% (21 of 37) of patients. The BCR::ABL1-like group had a significantly higher initial WBC count of ≥ 50,000/mm³ (71.4%; P < .001) than group 2. The 4-year OS, EFS, RFS of group 1 was not statistically different from group 2, though RFS was borderline poor (84.2%, 51.7%, 56.9% Vs. 82.6%, 62.9%, 78% [P - .42, P - .53, P - .059]). The 4-year EFS and RFS for BCR::ABL1-like cases was 70.7% and 76.6%, respectively.ConclusionsThe sensitivity of detecting BCR::ABL1-like lesions had increased significantly from 22% using the PACE approach alone to 38% in B-other-ALLs with the integrated approach. Although outcomes were not statistically different, a higher percentage of relapses were noted in the B-other-ALL group.     

Moving Knowledge to Action: Aware,Adopt, Adapt (A3)

This article begins with an overview of the knowledge translation (KT) process, introduces commonly used KT terms and the Aware-Adopt-Adapt (A³) KT map. The A³ was created by a nurse practitioner (NP) for practitioners and NP students to provide a map for those who wish to move existing knowledge to practice, yet do not know where to start or do not have the time to take a deeper dive into specific KT theories.     

Survival and Outcomes of Newly Diagnosed Multiple Myeloma Patients Stratified by Transplant Status 2007-2018: Retrospective Analysis from the Canadian Myeloma Research Group Database

BackgroundConsiderable progress has been made in therapeutic options for multiple myeloma (MM). Understanding the current landscape of MM treatment options and associated outcomes in the real world is important in providing key insights into clinical and knowledge gaps which could be targeted for further optimization.MethodsThe Canadian Myeloma Research Group Database (CMRG-DB) is a prospectively maintained disease-specific database with >7000 patients. The objective of this study was to describe the trends in the treatment landscape and outcomes including early mortality, time to next treatment, and overall survival (OS) in each line of treatment stratified by autologous stem cell transplant (ASCT) receipt among newly-diagnosed MM patients in Canada between 2007 and 2018.ResultsA total of 5154 patients were identified among which 3030 patients (58.8%) received an upfront ASCT and 2124 (41.2%) did not. At diagnosis, the median age was 64 years and 58.6% were males. Bortezomib and lenalidomide were most frequently used (>50%) in first and second-line treatment respectively among both the ASCT and non-ASCT cohort. The median OS was 122.0 months (95% Cl 115.0-135.0 months) and 54.3 months (95% CI 50.8-58.8 months) for the ASCT and non-ASCT cohort respectively with an incremental decrease in OS in each subsequent line of treatment.ConclusionWe present the largest study to date in the Canadian landscape showing the characteristics, therapy usage, and outcomes among MM patients. This information will be critical in benchmarking current outcomes and provide key insight into areas of unmet needs and gaps for improvement of MM patients nationally.     

STAC3 related congenital myopathy: A case series of seven Comorian patients

The Bailey-Bloch congenital myopathy, also known as Native American myopathy (NAM), is an autosomal recessive congenital myopathy first reported in the Lumbee tribe people settled in North Carolina (USA), and characterized by congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH) triggered by anesthesia. NAM is linked to STAC3 gene coding for a component of excitation-contraction coupling in skeletal muscles. A homozygous missense variant (c.851G > C; p.Trp284Ser) in STAC3 segregated with NAM in the Lumbee families. Non-Native American patients with STAC3 related congenital myopathy, and with other various variants of STAC3 have been reported. Here, we present seven patients from the Comoros Islands (located in the Mozambique Channel) diagnosed with STAC3 related congenital myopathy and having the recurrent variant identified in the Lumbee people. The series is the second largest series of patients having STAC3 related congenital myopathy with a shared ethnicity after le Lumbee series. Local history and geography may explain the overrepresentation of NAM in the Comorian Archipelago with a founder effect. Further researches would be necessary for the understanding of the onset of the NAM in Comorian population as search of the “classical” STAC3 variant in East African population, and haplotypes comparison between Comorian and Lumbee patients.     

TGF-β、PD-L1及PI3K蛋白在胃癌组织中的表达及临床意义北大核心

目的:检测胃癌组织中TGF-β、PD-L1及PI3K的表达情况,并探讨TGF-β、PD-L1及PI3K表达的临床意义。方法:收集2017年01月至2018年01月我院74例接受过胃癌根治术且组织学证实为胃腺癌患者的病例蜡块标本。采用免疫组织化学法检测其中TGF-β、PD-L1以及PI3K的表达情况,分析其与临床病理参数之间的关系及三者在胃癌组织中表达的相关性,并分析其与胃癌患者预后生存之间的关系。结果:胃癌组织中TGF-β、PD-L1、PI3K阳性率高于癌旁组织,差异具有统计学意义(P<0.05);胃癌组织中TGF-β的表达与淋巴结转移、临床TNM分期有关(P<0.05),与年龄、性别、分化程度、浸润程度、肿瘤直径无显著相关性(P>0.05);胃癌组织中PD-L1和PI3K的表达与肿瘤浸润程度、淋巴结转移、临床TNM分期有关(P<0.05),与年龄、性别、分化程度、肿瘤直径无显著相关性(P>0.05);在胃癌组织中,TGF-β与PD-L1的表达呈正相关(P<0.05),TGF-β与PI3K的表达呈正相关(P<0.05),PI3K与PD-L1的表达呈正相关(P<0.05)。Kaplan-Meier生存分析提示,与TGF-β、PD-L1、PI3K阴性相比,TGF-β、PD-L1、PI3K阳性表达的患者总生存期明显缩短(P<0.05)。结论:胃癌组织中存在TGF-β、PD-L1以及PI3K的高表达,并且TGF-β、PD-L1、PI3K的表达与淋巴结转移、临床TNM分期密切相关,三者可能参与胃癌的发生、发展和转移,且高表达患者的预后情况较差。     

不同时期COPD患者血清DcR3、Survivin表达水平及临床意义

目的 探讨不同时期慢性阻塞性肺疾病(COPD)患者血清诱饵受体3(DcR3)、凋亡抑制蛋白(Survivin)表达水平及临床意义。方法 选取2018年9月—2019年12月本院收治的92名COPD患者为研究对象,其中稳定型COPD 50例,急性加重期COPD 42例;同期本院健康体检者88例为对照组。测定各组研究对象血清DcR3、Survivin水平及肺功能指标。 与对照组[DcR3(106.54±48.35)pg/mL,Survivin(98.85±26.59)pg/mL]比较,稳定期组和急性加重期组血清DcR3[(395.23±123.85)pg/mL,(1 248.81±213.59)pg/mL]、Survivin [(267.54±84.69)pg/mL,(1 233.95±307.26)pg/mL]水平升高;与稳定期组比较,急性加重期组血清DcR3、Survivin水平升高。与对照组比较,稳定期组和急性加重期组FEV1%、FEV1 /FVC、DLCO%水平降低(P<0.001);与稳定期组比较,急性加重期组FEV1%、FEV1 /FVC、DLCO%水平降低(P<0.001)。随着低氧血症严重程度的增加,COPD患者血清DcR3、Survivin水平逐渐增加(P<0.001)。多因素logistics回归分析显示,高水平DcR3、Survivin、IL-12、hs-CRP为COPD病情的危险因素(P<0.001)。DcR3、Survivin与FEV、FEV1 /FVC呈负相关,与IL-12、TNF-α、hs-CRP呈正相关(P<0.001)。 COPD稳定期、急性加重期患者血清DcR3、Survivin表达水平升高,且DcR3、Survivin与COPD病情严重程度呈正相关。     

3D打印骨折模型在复杂骨盆骨折手术中的治疗方法及效果探讨

目的:探讨复杂骨盆骨折手术治疗中3D打印骨折模型的应用方法及效果。方法:选取医院收治的60例复杂骨盆骨折患者,按照随机数表法将其分为对照组和观察组,每组30例。对照组行传统CT指导下手术治疗,观察组行3D打印仿真骨盆模型体外模拟术后,应用腹直肌旁切口钢板内固定术治疗。比较两组手术时间、住院时间和骨折愈合时间,以及术中出血量、并发症发生率和骨盆功能恢复优良率。结果:观察组手术时间、住院时间及骨折愈合时间短于对照组,术中出血量少于对照组,差异有统计学意义(t=2.721,t=2.458,t=2.791,t=4.450;P<0.05);观察组和对照组并发症发生率分别为3.33%和10.00%,差异无统计学意义(x²=0.267,P>0.05);观察组和对照组骨盆功能恢复优良率分别为96.67%和73.33%,观察组明显高于对照组,差异有统计学意义(x²=4.705,P<0.05)。结论:复杂骨盆骨折手术中应用3D打印骨折模型可缩短手术时间、住院时间,减少出血量,促进骨折愈合,可改善骨盆功能且并发症少。     

Quantitative Automated Segmentation of Lipiodol Deposits on Cone-Beam CT Imaging Acquired during Transarterial Chemoembolization for Liver Tumors: A Deep Learning Approach

PurposeTo show that a deep learning (DL)–based, automated model for Lipiodol (Guerbet Pharmaceuticals, Paris, France) segmentation on cone-beam computed tomography (CT) after conventional transarterial chemoembolization performs closer to the “ground truth segmentation” than a conventional thresholding-based model.Materials and MethodsThis post hoc analysis included 36 patients with a diagnosis of hepatocellular carcinoma or other solid liver tumors who underwent conventional transarterial chemoembolization with an intraprocedural cone-beam CT. Semiautomatic segmentation of Lipiodol was obtained. Subsequently, a convolutional U-net model was used to output a binary mask that predicted Lipiodol deposition. A threshold value of signal intensity on cone-beam CT was used to obtain a Lipiodol mask for comparison. The dice similarity coefficient (DSC), mean squared error (MSE), center of mass (CM), and fractional volume ratios for both masks were obtained by comparing them to the ground truth (radiologist-segmented Lipiodol deposits) to obtain accuracy metrics for the 2 masks. These results were used to compare the model versus the threshold technique.ResultsFor all metrics, the U-net outperformed the threshold technique: DSC (0.65 ± 0.17 vs 0.45 ± 0.22, P < .001) and MSE (125.53 ± 107.36 vs 185.98 ± 93.82, P = .005). The difference between the CM predicted and the actual CM was 15.31 mm ± 14.63 versus 31.34 mm ± 30.24 (P < .001), with lesser distance indicating higher accuracy. The fraction of volume present ([predicted Lipiodol volume]/[ground truth Lipiodol volume]) was 1.22 ± 0.84 versus 2.58 ± 3.52 (P = .048) for the current model’s prediction and threshold technique, respectively.ConclusionsThis study showed that a DL framework could detect Lipiodol in cone-beam CT imaging and was capable of outperforming the conventionally used thresholding technique over several metrics. Further optimization will allow for more accurate, quantitative predictions of Lipiodol depositions intraprocedurally.