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Differences in circulating lymphocyte subpopulations among patients with inflammatory polyps, colorectal adenomas and colorectal cancer 炎性息肉、结直肠腺瘤和结直肠癌患者循环淋巴细胞亚群的差异。
IF 1.4 4区 医学 Q3 Medicine Pub Date : 2024-05-01 DOI: 10.1016/j.ajg.2023.12.013
Jialai Zheng , Haiyong Jin , Yongtao Tu

Background and Study Aims

Colorectal cancer (CRC) may develop from focal changes within benign or precancerous polyps. The immune system’s failure to detect and eradicate tumor cells due to immune surveillance evasion, allows cancer to develop and spread. This study aims to analyze the differences in circulating lymphocyte subpopulations in patients with colorectal inflammatory polyps, colorectal adenomas and CRC.

Patients and Methods

We retrospectively reviewed patients from September 2016 to December 2019 at the Shaoxing Second Hospital. Using flow cytometry, the subset distribution and immunophenotype of T cells, CD4+ T cells, CD8+ T cells, B cells and NK cells were investigated in peripheral blood mononuclear cell samples. The counts of lymphocytes were determined by white blood cell counts.

Results

In total, 518 patients were included in this study. The counts of lymphocytes, T cells and NK cells in patients with inflammatory polyps, colorectal adenomas and CRC were lower than controls. The counts and percentages of CD8+ T cells in patients with inflammatory polyps, colorectal adenomas and CRC were lower than controls. The counts of CD4+ T cells were lower in patients with CRC than inflammatory polyps. The percentages of CD4+ T cells in patients with inflammatory polyps, colorectal adenomas and CRC were higher than controls, but lower in the CRC than inflammatory polyps, colorectal adenomas. The counts and percentages of B cells were lower in CRC patients than colorectal adenomas patients. In addition, the percentages of B cells were higher in patients with inflammatory polyps and colorectal adenomas than in controls.

Conclusions

The decrease in counts of lymphocyte, T cells, CD8+ T cells and NK cells in patients may be related to the dysplasia of epithelial cells. Furthermore, the B cells and CD4+ T cells may be related to the malignant growth of the dysplastic epithelial cells.

背景和研究目的:大肠癌(CRC)可能由良性或癌前息肉内的病灶变化发展而来。由于逃避免疫监视,免疫系统无法检测和消灭肿瘤细胞,从而使癌症得以发展和扩散。本研究旨在分析结直肠炎性息肉、结直肠腺瘤和 CRC 患者循环淋巴细胞亚群的差异:我们回顾性回顾了绍兴市第二医院2016年9月至2019年12月的患者。使用流式细胞术研究了外周血单核细胞样本中T细胞、CD4+ T细胞、CD8+ T细胞、B细胞和NK细胞的亚群分布和免疫表型。淋巴细胞的数量通过白细胞计数确定:本研究共纳入 518 名患者。炎性息肉、结直肠腺瘤和 CRC 患者的淋巴细胞、T 细胞和 NK 细胞数量均低于对照组。炎性息肉、结直肠腺瘤和 CRC 患者 CD8+ T 细胞的数量和百分比均低于对照组。与炎性息肉相比,CRC 患者的 CD4+ T 细胞数量更少。炎性息肉、结直肠腺瘤和 CRC 患者的 CD4+ T 细胞百分比高于对照组,但 CRC 患者的 CD4+ T 细胞百分比低于炎性息肉和结直肠腺瘤。B 细胞的数量和百分比在 CRC 患者中低于结直肠腺瘤患者。此外,炎性息肉和结直肠腺瘤患者的 B 细胞百分比高于对照组:患者淋巴细胞、T 细胞、CD8+ T 细胞和 NK 细胞数量的减少可能与上皮细胞发育不良有关。此外,B 细胞和 CD4+ T 细胞可能与发育不良上皮细胞的恶性生长有关。
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引用次数: 0
The impact of EndoCuff-assisted colonoscopy on the polyp detection rate: A cross-over randomized back-to-back study EndoCuff辅助结肠镜检查对息肉检出率的影响:交叉随机背靠背研究。
IF 1.4 4区 医学 Q3 Medicine Pub Date : 2024-05-01 DOI: 10.1016/j.ajg.2023.11.007
Mohammed Sherif Naguib , Ahmed Khairy , Hany Shehab , Hazem Abosheaishaa , Abdel Meguid Kassem

Background and study aims

Colorectal cancer (CRC) is one of the most common cancers worldwide, and most CRCs develop from polyps with malignant potential. We aimed to study the difference in polyp detection rate between EndoCuff-assisted colonoscopies (EAC) and standard colonoscopy (SC).

Patients and methods

This study was conducted at Cairo University Hospitals on patients referred for screening or diagnostic colonoscopy from July 2018 to August 2020. All included patients underwent back-to-back standard colonoscopy (SC) and ENDOCUFF VISION-assisted colonoscopies (EAC).

Results

214 patients were included in this study. In comparison between EAC and SC, EAC increased the polyp detection rate (69 (32.24 %) vs. 57(26.64 %) (p < 0.05), EAC increased the detection of diminutive polyps ≤ 5 mm (104 vs. 81) (p < 0.05), and small polyps 6–9 mm (12 vs. 10) while there was no difference in large polyps ≥ 10 mm. EAC increased the adenoma detection rate (ADR) (37 (17.2 %) vs. 32(14.9 %) (p < 0.05). The findings detected by EAC shortened the interval of surveillance determined by SC findings. EndoCuff caused six mucosal erosions (2.8 %) in patients.

Conclusion

EAC increases the number of detected colonic polyps, primarily small polyps on the left and right sides of the colon.

背景和研究目的:结肠直肠癌(CRC)是全球最常见的癌症之一,大多数 CRC 由具有恶性潜能的息肉发展而来。我们旨在研究 EndoCuff 辅助结肠镜检查(EAC)与标准结肠镜检查(SC)在息肉检出率方面的差异:本研究于 2018 年 7 月至 2020 年 8 月在开罗大学医院进行,对象是转诊进行筛查或诊断性结肠镜检查的患者。所有纳入患者均接受了背靠背标准结肠镜检查(SC)和ENDOCUFF VISION辅助结肠镜检查(EAC)。结果:本研究共纳入 214 名患者,EAC 与 SC 相比,EAC 提高了息肉检出率(69(32.24%)对 57(26.64%))(p 结论:EAC 提高了息肉检出率:EAC 增加了结肠息肉的检出数量,主要是结肠左右两侧的小息肉。
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引用次数: 0
Rare liver diseases in Egypt: Clinical and epidemiological characterization 埃及的罕见肝病:临床和流行病学特征
IF 1.4 4区 医学 Q3 Medicine Pub Date : 2024-05-01 DOI: 10.1016/j.ajg.2023.12.002
Walaa Abdelhamed , Mohamed El-Kassas

Illnesses that afflict a tiny number of individuals are referred to as rare diseases (RDs), sometimes called orphan diseases. The local healthcare systems are constantly under financial, psychological, and medical strain due to low incidence rates, unusual presentations, flawed diagnostic standards, and a lack of treatment alternatives for these RDs. The effective management of the once widely spread viral hepatitis B and C has altered the spectrum of liver diseases in Egypt during the last several years. The detection of uncommon disorders such as autoimmune, cholestatic, and hereditary liver diseases has also been made easier by the increasing knowledge and greater accessibility of specific laboratory testing. Finally, despite Egypt's large population, there are more uncommon liver disorders than previously thought. This review article discusses the clinical and epidemiological characteristics of a few uncommon liver disorders and the information currently accessible concerning these illnesses in Egypt.

只有极少数人患病的疾病被称为罕见病(RDs),有时也称为孤儿病。由于发病率低、表现异常、诊断标准不完善以及缺乏治疗这些罕见病的替代方法,当地的医疗保健系统一直承受着经济、心理和医疗压力。在过去的几年里,对曾经广泛传播的乙型和丙型病毒性肝炎的有效管理改变了埃及的肝脏疾病谱。由于对特定实验室检测知识的不断增长和更容易获得,检测自身免疫性肝病、胆汁淤积性肝病和遗传性肝病等不常见疾病也变得更加容易。最后,尽管埃及人口众多,但不常见的肝脏疾病比以前想象的要多。这篇综述文章讨论了一些不常见肝病的临床和流行病学特征,以及目前在埃及可以获得的有关这些疾病的信息。
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引用次数: 0
Effects of HMGA2 on the biological characteristics and stemness acquisition of gastric cancer cells HMGA2 对胃癌细胞生物学特性和干性获得的影响
IF 1.4 4区 医学 Q3 Medicine Pub Date : 2024-05-01 DOI: 10.1016/j.ajg.2024.01.001
Dequan Kong , Lang Zha , Yaben Yao , Zhenyu Zhang , Jun Gao , Rui Zhang , Lei Chen , Ziwei Wang

Background and study aims

The high mobility group A2 (HMGA2), a nonhistone nuclear binding protein, modulates transcription by altering the chromatin architecture of the target gene DNA in its specific AT-hooks region. HMGA2 overexpression has been observed in embryonic tissue and many malignant neoplasms. This study sought to verify whether HMGA2 plays a role in the biological functions of gastric cancer cells, such as cell proliferation, invasiveness, migration, and stem cell acquisition, and to provide some ideas for further research on the metastatic mechanism of gastric cancer.

Patients and methods

HMGA2′s effects on the proliferation, invasiveness, and migration capabilities of gastric cancer cells were individually detected by BrdU, Transwell, and wound healing assays. Western blotting and immunofluorescence were used to evaluate whether HMGA2 could promote the acquisition of gastric cancer cells. Biostatistical analyses were performed using SPSS 17.0 for Windows.

Results

HMGA2 expression levels in gastric cancer cell lines were significantly higher than those in human immortalized gastric epithelial cell lines (p < 0.01). Gastric cancer cell proliferation was inhibited when HMGA2 was overexpressed (p < 0.05). The invasiveness and migration capabilities of gastric cancer cells with HMGA2 overexpression were enhanced more than those of the corresponding control groups (p < 0.05). HMGA2 overexpression promotes the stemness acquisition of stem cells from gastric cancer cells.

Conclusions

This study verified that the HMGA2 structural transcription factor promotes invasiveness, migration, and acquisition of gastric cancer cells. Furthermore, our findings provide significant insight for further research on the metastatic mechanism of gastric cancer.

背景和研究目的:高迁移率基团 A2(HMGA2)是一种非组蛋白核结合蛋白,它通过改变目标基因 DNA 在其特定 AT 钩子区的染色质结构来调节转录。在胚胎组织和许多恶性肿瘤中都观察到了 HMGA2 的过表达。本研究试图验证HMGA2是否在胃癌细胞的生物学功能(如细胞增殖、侵袭性、迁移和干细胞获得)中发挥作用,并为进一步研究胃癌的转移机制提供一些思路。患者和方法:HMGA2对胃癌细胞增殖、侵袭性和迁移能力的影响分别通过BrdU、Transwell和伤口愈合试验进行检测。用 Western 印迹法和免疫荧光法评估 HMGA2 是否能促进胃癌细胞的获得。使用 SPSS 17.0 for Windows 进行生物统计分析:结果:HMGA2在胃癌细胞系中的表达水平明显高于人类永生化胃上皮细胞系(P 结论:HMGA2在胃癌细胞系中的表达水平明显高于人类永生化胃上皮细胞系(P本研究验证了HMGA2结构转录因子可促进胃癌细胞的侵袭、迁移和获得。此外,我们的研究结果为进一步研究胃癌的转移机制提供了重要启示。
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引用次数: 0
Risk factors of liver abscess and biloma formation after drug-eluting bead transarterial chemoembolization for unresectable intrahepatic cholangiocarcinoma 药物洗脱珠经动脉化疗栓塞治疗不可切除的肝内胆管癌后形成肝脓肿和胆脂瘤的风险因素。
IF 1.4 4区 医学 Q3 Medicine Pub Date : 2024-05-01 DOI: 10.1016/j.ajg.2024.01.012
Longhao Bian, Jianjun Yang, Zhaomin Song

Background and study aims

Drug-eluting bead transarterial chemoembolization (DEB-TACE) causes serious complications, including liver abscess and biloma formation. This study aimed to investigate the frequency and risk factors of liver abscess and biloma formation after dug-eluting bead transarterial chemoembolization for unresectable intrahepatic cholangiocarcinoma (ICC).

Patients and methods

152 unresectable ICC patients received 241 DEB-TACE procedures from February 2018 to November 2022 were studied retrospectively. Patients were evaluated for the presence of liver abscess and biloma formation after DEB-TACE. The medical records, including baseline demographic data, preoperative imaging data, DEB-TACE details, and postoperative management, were reviewed to search for risk factors of liver abscess and biloma formation.

Results

Liver abscesses developed in 11 cases, with an incidence rate of 7.2 % (11/152) per patient and 4.6 % (11/241) per procedure. In the 11 patients with abscesses, the incidence of biloma formation was 36.4 % (n = 4). The binary logistic regression analysis showed that diabetes mellitus (OR 7.967, 95 % CI 1.491–42.571, p = 0.015), bilioenterostomy or biliary stent implantation (OR 18.716, 95 % CI 1.006–348.049, p = 0.049) and grade 1 arterial occlusion (OR 9.712, 95 % CI 1.054–89.484, p = 0.045) were independent risk factors for liver abscess and biloma formation.

Conclusion

Liver abscesses and biloma formation induced by DEB-TACE are associated with various factors. Diabetes mellitus, bilioenterostomy or biliary stent implantation, and grade 1 artery occlusion were all associated with liver abscess and biloma formation after DEB-TACE for unresectable ICC. In patients with these risk factors, the DEB-TACE procedure should be finely designed and manipulated with more caution.

背景和研究目的:药物洗脱珠经动脉化疗栓塞术(DEB-TACE)会导致严重的并发症,包括肝脓肿和胆汁瘤的形成。本研究旨在调查挖洗珠经动脉化疗栓塞治疗不可切除的肝内胆管癌(ICC)后肝脓肿和胆汁瘤形成的频率和风险因素。患者和方法:回顾性研究了2018年2月至2022年11月期间接受241例DEB-TACE手术的152例不可切除的ICC患者。对患者在 DEB-TACE 术后是否出现肝脓肿和胆脂瘤形成进行了评估。回顾病历,包括基线人口统计学数据、术前影像学数据、DEB-TACE详情和术后管理,以寻找肝脓肿和胆汁瘤形成的风险因素:结果:11例患者出现肝脓肿,每位患者的发病率为7.2%(11/152),每次手术的发病率为4.6%(11/241)。在 11 例脓肿患者中,胆脂瘤形成率为 36.4%(n = 4)。二元逻辑回归分析显示,糖尿病(OR 7.967,95 % CI 1.491-42.571,p = 0.015)、胆肠造口术或胆道支架植入术(OR 18.716,95 % CI 1.006-348.049, p = 0.049)和1级动脉闭塞(OR 9.712, 95 % CI 1.054-89.484, p = 0.045)是肝脓肿和胆汁瘤形成的独立危险因素:结论:DEB-TACE诱发的肝脓肿和胆汁瘤的形成与多种因素有关。糖尿病、胆肠造口术或胆道支架植入术、1级动脉闭塞均与不可切除ICC的DEB-TACE术后肝脓肿和胆汁瘤的形成有关。对于存在这些危险因素的患者,DEB-TACE手术的设计和操作应更加精细和谨慎。
{"title":"Risk factors of liver abscess and biloma formation after drug-eluting bead transarterial chemoembolization for unresectable intrahepatic cholangiocarcinoma","authors":"Longhao Bian,&nbsp;Jianjun Yang,&nbsp;Zhaomin Song","doi":"10.1016/j.ajg.2024.01.012","DOIUrl":"10.1016/j.ajg.2024.01.012","url":null,"abstract":"<div><h3>Background and study aims</h3><p>Drug-eluting bead transarterial chemoembolization (DEB-TACE) causes serious complications, including liver abscess and biloma formation. This study aimed to investigate the frequency and risk factors of liver abscess and biloma formation after dug-eluting bead transarterial chemoembolization for unresectable intrahepatic cholangiocarcinoma (ICC).</p></div><div><h3>Patients and methods</h3><p>152 unresectable ICC patients received 241 DEB-TACE procedures from February 2018 to November 2022 were studied retrospectively. Patients were evaluated for the presence of liver abscess and biloma formation after DEB-TACE. The medical records, including baseline demographic data, preoperative imaging data, DEB-TACE details, and postoperative management, were reviewed to search for risk factors of liver abscess and biloma formation.</p></div><div><h3>Results</h3><p>Liver abscesses developed in 11 cases, with an incidence rate of 7.2 % (11/152) per patient and 4.6 % (11/241) per procedure. In the 11 patients with abscesses, the incidence of biloma formation was 36.4 % (n = 4). The binary logistic regression analysis showed that diabetes mellitus (OR 7.967, 95 % CI 1.491–42.571, p = 0.015), bilioenterostomy or biliary stent implantation (OR 18.716, 95 % CI 1.006–348.049, p = 0.049) and grade 1 arterial occlusion (OR 9.712, 95 % CI 1.054–89.484, p = 0.045) were independent risk factors for liver abscess and biloma formation.</p></div><div><h3>Conclusion</h3><p>Liver abscesses and biloma formation induced by DEB-TACE are associated with various factors. Diabetes mellitus, bilioenterostomy or biliary stent implantation, and grade 1 artery occlusion were all associated with liver abscess and biloma formation after DEB-TACE for unresectable ICC. In patients with these risk factors, the DEB-TACE procedure should be finely designed and manipulated with more caution.</p></div>","PeriodicalId":48674,"journal":{"name":"Arab Journal of Gastroenterology","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139933673","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A potential new way to facilitate HCV elimination: The prediction of viremia in anti-HCV seropositive patients using machine learning algorithms 促进消除 HCV 的潜在新方法:利用机器学习算法预测抗-HCV 血清阳性患者的病毒血症。
IF 1.4 4区 医学 Q3 Medicine Pub Date : 2024-05-01 DOI: 10.1016/j.ajg.2024.03.003
Tayibe Bal , Emre Dirican

Background and study aims:

The present study was undertaken to design a new machine learning (ML) model that can predict the presence of viremia in hepatitis C virus (HCV) antibody (anti-HCV) seropositive cases.

Patients and Methods

This retrospective study was conducted between January 2012-January 2022 with 812 patients who were referred for anti-HCV positivity and were examined for HCV ribonucleic acid (HCV RNA). Models were constructed with 11 features with a predictor (presence and absence of viremia) to predict HCV viremia. To build an optimal model, this current study also examined and compared the three classifier data mining approaches: RF, SVM and XGBoost.

Results

The highest performance was achieved with XGBoost (90%), which was followed by RF (89%), SVM Linear (85%) and SVM Radial (83%) algorithms, respectively. The four most important key features contributing to the models were: alanine aminotransferase (ALT), aspartate aminotransferase (AST), albumin (ALB) and anti-HCV levels, respectively, while “ALB” was replaced by the “AGE” only in the XGBoost model.

Conclusion

This study has shown that XGBoost and RF based ML models, incorporating anti-HCV levels and routine laboratory tests (ALT, AST, ALB), and age are capable of providing HCV viremia diagnosis with 90% and 89% accuracy, respectively. These findings highlight the potential of ML models in the early diagnosis of HCV viremia, which may be helpful in optimizing HCV elimination programs.

背景和研究目的:本研究旨在设计一种新的机器学习(ML)模型,以预测丙型肝炎病毒(HCV)抗体(抗-HCV)血清阳性病例中是否存在病毒血症:这项回顾性研究是在 2012 年 1 月至 2022 年 1 月期间进行的,共有 812 名患者因抗-HCV 阳性转诊并接受了 HCV 核糖核酸(HCV RNA)检查。通过 11 个特征和一个预测因子(有无病毒血症)构建了模型,以预测 HCV 病毒血症。为了建立最佳模型,本研究还对三种分类器数据挖掘方法进行了研究和比较:RF、SVM 和 XGBoost:结果:XGBoost 算法的性能最高(90%),其次分别是 RF 算法(89%)、SVM 线性算法(85%)和 SVM 径向算法(83%)。对模型贡献最大的四个关键特征分别是:丙氨酸氨基转移酶(ALT)、天门冬氨酸氨基转移酶(AST)、白蛋白(ALB)和抗-HCV 水平,而只有在 XGBoost 模型中 "ALB "被 "AGE "取代:本研究表明,基于 XGBoost 和 RF 的 ML 模型结合了抗-HCV 水平、常规实验室检测(谷丙转氨酶、谷草转氨酶、白蛋白)和年龄,能够提供 HCV 病毒血症诊断,准确率分别为 90% 和 89%。这些发现凸显了 ML 模型在早期诊断 HCV 病毒血症方面的潜力,可能有助于优化 HCV 消除计划。
{"title":"A potential new way to facilitate HCV elimination: The prediction of viremia in anti-HCV seropositive patients using machine learning algorithms","authors":"Tayibe Bal ,&nbsp;Emre Dirican","doi":"10.1016/j.ajg.2024.03.003","DOIUrl":"10.1016/j.ajg.2024.03.003","url":null,"abstract":"<div><p><strong><em>Background and study aims:</em></strong></p><p>The present study was undertaken to design a new machine learning (ML) model that can predict the presence of viremia in hepatitis C virus (HCV) antibody (anti-HCV) seropositive cases.</p></div><div><h3>Patients and Methods</h3><p>This retrospective study was conducted between January 2012-January 2022 with 812 patients who were referred for anti-HCV positivity and were examined for HCV ribonucleic acid (HCV RNA). Models were constructed with 11 features with a predictor (presence and absence of viremia) to predict HCV viremia. To build an optimal model, this current study also examined and compared the three classifier data mining approaches: RF, SVM and XGBoost.</p></div><div><h3>Results</h3><p>The highest performance was achieved with XGBoost (90%), which was followed by RF (89%), SVM Linear (85%) and SVM Radial (83%) algorithms, respectively. The four most important key features contributing to the models were: alanine aminotransferase (ALT), aspartate aminotransferase (AST), albumin (ALB) and anti-HCV levels, respectively, while “ALB” was replaced by the “AGE” only in the XGBoost model.</p></div><div><h3>Conclusion</h3><p>This study has shown that XGBoost and RF based ML models, incorporating anti-HCV levels and routine laboratory tests (ALT, AST, ALB), and age are capable of providing HCV viremia diagnosis with 90% and 89% accuracy, respectively. These findings highlight the potential of ML models in the early diagnosis of HCV viremia, which may be helpful in optimizing HCV elimination programs.</p></div>","PeriodicalId":48674,"journal":{"name":"Arab Journal of Gastroenterology","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140855593","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic evaluation in indeterminate acute liver failure: A post hoc analysis 不确定急性肝衰竭的基因评估:事后分析
IF 1.4 4区 医学 Q3 Medicine Pub Date : 2024-05-01 DOI: 10.1016/j.ajg.2024.03.004
Chunya Wang , Meina Li , Zhenhua Liu , Yupeng Guo , Huijuan Liu , Pan Zhao , Acute Liver Failure Study Team

Background and study aims

There are limited data regarding indeterminate acute liver failure (ALF). The study aims to perform a post hoc analysis using genetic methods for the ALF cases with indeterminate etiology.

Patients and Methods

Stored blood samples from these patients with indeterminate ALF were collected. Whole-exome sequencing (WES) was used to evaluate the pathogenesis of indeterminate ALF.

Results

A total of 16 samples from 11 adult patients and 5 pediatric patients with indeterminate ALF were available. Among the adult patients, one female patient was identified with two heterozygous variants (c.2333G > T (p.Arg778Leu) and c.2310C > G (p.Leu770 = )) in the adenosine triphosphatase copper-transporting beta (ATP7B) gene, and two male patients were found to harbor heterozygous and homozygous variants (c.686C > A (p.Pro229Gln) plus homozygous variant A(TA)6TAAinsTA (-), and c.1456 T > G (p.Tyr486Asp) plus c.211G > A (p.Gly71Arg)) in the uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) gene. For the pediatric patients, single heterozygous variant (c.2890C > T (p.Arg964Cys)) in the polymerase gamma (POLG) gene was found in 1 male child, and two heterozygous variants (c.1909A > G (p.Lys637Glu) and c.3646G > A (p.Val1216Ile)) in the tetratricopeptide repeat domain 37 (TTC37) gene were found in 1 female child. No variants clinically associated with known liver diseases were revealed in the remaining patients.

Conclusion

These results expand the knowledge of ALF with indeterminate etiology. WES is helpful to reveal possible candidate genes for indeterminate ALF, but incomplete consistency between the genotype and phenotype in some cases still challenge the accurate diagnosis.

背景和研究目的:关于病因不明确的急性肝衰竭(ALF)的数据有限。本研究旨在利用遗传学方法对病因不确定的 ALF 病例进行事后分析:研究收集了这些病因不确定的急性肝衰竭患者的储存血样。患者和方法:收集这些不确定 ALF 患者的储存血样,采用全外显子组测序(WES)评估不确定 ALF 的发病机制:结果:共获得了来自11名成年患者和5名儿童患者的16份样本。在成人患者中,发现一名女性患者的腺苷三磷酸酶铜转运β(ATP7B)基因中存在两个杂合变体(c.2333G > T (p.Arg778Leu) 和 c.2310C > G (p.Leu770 = )),两名男性患者的腺苷三磷酸酶铜转运β(ATP7B)基因中存在杂合和同源变体(c.686C>A(p.Pro229Gln)加同源变异A(TA)6TAAinsTA(-),以及尿苷二磷酸葡萄糖醛酸转移酶 1A1(UGT1A1)基因中的 c.1456 T>G(p.Tyr486Asp)加 c.211G>A(p.Gly71Arg)。在儿童患者中,1 名男童的聚合酶伽马(POLG)基因中发现了单杂合子变异(c.2890C > T (p.Arg964Cys)),1 名女童的四肽重复域 37(TTC37)基因中发现了两个杂合子变异(c.1909A > G (p.Lys637Glu) 和 c.3646G > A (p.Val1216Ile))。其余患者中未发现与已知肝病相关的临床变异:这些结果扩展了对病因不确定的 ALF 的认识。WES有助于揭示病因不确定的ALF的可能候选基因,但某些病例的基因型与表型不完全一致,仍对准确诊断构成挑战。
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引用次数: 0
Effect of medium chain triglycerides enriched formula on growth of biliary atresia patients after Kasai portoenterostomy 富含中链甘油三酯的配方奶粉对卡西肠造口术后胆道闭锁患者生长的影响
IF 1.4 4区 医学 Q3 Medicine Pub Date : 2024-05-01 DOI: 10.1016/j.ajg.2024.01.015
Nehal El-Koofy , Eman Mahmoud , Fatma El Mougy , Engy Nasr , Sawsan Okasha , Hanaa El-Karaksy , Ghada Anwar , Mortada H. El-Shabrawi , Nora E. Badawi , Noha Arafa

Background and study aims

Biliary atresia (BA) is the most common cause of neonatal cholestasis, negatively affecting nutritional status, growth, and development. It is the most frequent paediatric indication for liver transplantation. The Kasai portoenterostomy (KPE) operation is an effective procedure with favourable outcomes when performed before two months of age. The present study aimed to assess the nutritional status of patients with biliary atresia who underwent the Kasai operation and to evaluate the effectiveness of nutritional counselling using medium-chain triglyceride (MCT) formulas and proper supplementation on their nutritional status, growth, and vitamin D levels.

Patients and methods

This prospective observational study included 36 infants with biliary atresia who underwent Kasai portoenterostomy. All patients underwent clinical assessment, anthropometric evaluation, nutritional counselling, and an evaluation of vitamin D levels. Only compliant patients (22/36) were followed up after 3 and 6 months of nutritional counselling.

Results

Z-scores for weight, triceps skinfold thickness, and mid-upper arm circumference improved significantly after three months, and the height velocity Z-score improved after six months of nutritional counselling using an MCT-containing formula and supplementations. Patients who showed an improvement in cholestasis had better responses. The initial assessment revealed low serum levels of 25-hydroxyvitamin D in 77.8 %, which increased significantly (p = 0.012).

Conclusion

Dietary intervention and supplementation with MCT and micronutrients can improve the nutritional status of children with BA following KPE.

背景和研究目的:胆道闭锁(BA)是新生儿胆汁淤积症最常见的原因,对营养状况、生长和发育有负面影响。它是儿科肝移植最常见的适应症。葛西肠管造口术(KPE)是一种有效的手术,如果在新生儿两个月前进行,效果会很好。本研究旨在评估接受Kasai手术的胆道闭锁患者的营养状况,并评估使用中链甘油三酯(MCT)配方奶粉和适当补充营养对其营养状况、生长和维生素D水平的影响:这项前瞻性观察研究纳入了 36 名接受卡萨伊肠管造口术的胆道闭锁婴儿。所有患者均接受了临床评估、人体测量评估、营养咨询和维生素 D 水平评估。只有符合要求的患者(22/36)在接受营养咨询 3 个月和 6 个月后接受了随访:结果:使用含 MCT 的配方奶粉和补充剂进行营养咨询 6 个月后,体重、肱三头肌皮褶厚度和中上臂围的 Z 值均有明显改善,身高速度 Z 值也有所提高。胆汁淤积症得到改善的患者反应更好。初步评估显示,77.8%的患者血清中 25-羟基维生素 D 含量较低,而这一比例显著上升(p = 0.012):结论:饮食干预以及补充 MCT 和微量营养素可改善 KPE 后 BA 患儿的营养状况。
{"title":"Effect of medium chain triglycerides enriched formula on growth of biliary atresia patients after Kasai portoenterostomy","authors":"Nehal El-Koofy ,&nbsp;Eman Mahmoud ,&nbsp;Fatma El Mougy ,&nbsp;Engy Nasr ,&nbsp;Sawsan Okasha ,&nbsp;Hanaa El-Karaksy ,&nbsp;Ghada Anwar ,&nbsp;Mortada H. El-Shabrawi ,&nbsp;Nora E. Badawi ,&nbsp;Noha Arafa","doi":"10.1016/j.ajg.2024.01.015","DOIUrl":"10.1016/j.ajg.2024.01.015","url":null,"abstract":"<div><h3>Background and study aims</h3><p>Biliary atresia (BA) is the most common cause of neonatal cholestasis, negatively affecting nutritional status, growth, and development. It is the most frequent paediatric indication for liver transplantation. The Kasai portoenterostomy (KPE) operation is an effective procedure with favourable outcomes when performed before two months of age. The present study aimed to assess the nutritional status of patients with biliary atresia who underwent the Kasai operation and to evaluate the effectiveness of nutritional counselling using medium-chain triglyceride (MCT) formulas and proper supplementation on their nutritional status, growth, and vitamin D levels.</p></div><div><h3>Patients and methods</h3><p>This prospective observational study included 36 infants with biliary atresia who underwent Kasai portoenterostomy. All patients underwent clinical assessment, anthropometric evaluation, nutritional counselling, and an evaluation of vitamin D levels. Only compliant patients (22/36) were followed up after 3 and 6 months of nutritional counselling.</p></div><div><h3>Results</h3><p>Z-scores for weight, triceps skinfold thickness, and mid-upper arm circumference improved significantly after three months, and the height velocity Z-score improved after six months of nutritional counselling using an MCT-containing formula and supplementations. Patients who showed an improvement in cholestasis had better responses. The initial assessment revealed low serum levels of 25-hydroxyvitamin D in 77.8 %, which increased significantly (p = 0.012).</p></div><div><h3>Conclusion</h3><p>Dietary intervention and supplementation with MCT and micronutrients can improve the nutritional status of children with BA following KPE.</p></div>","PeriodicalId":48674,"journal":{"name":"Arab Journal of Gastroenterology","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139913816","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Diabetic patients with chronic hepatitis C virus response compared to non diabetics when treated with directly acting antiviral therapy 与非糖尿病患者相比,慢性丙型肝炎病毒感染的糖尿病患者在接受直接作用抗病毒疗法时的反应。
IF 1.4 4区 医学 Q3 Medicine Pub Date : 2024-05-01 DOI: 10.1016/j.ajg.2023.12.006
Raghda N. Marzaban , Hesham I. AlMekhzangy , Wafaa ElAkel , Tamer M ElBaz , Yehia M. ElShazly , Kadry ElSaeed , Mahmoud Anees , Mohamed Said , Magdy A. ElSerafy , Gamal G. Esmat , Wahid H. Doss

Background and study aims

Hepatitis C virus (HCV) impairs glucose homoestasis, thus influences its clinical picture and prognosis.

This study aimed at evaluating Diabetes mellitus (DM) on Egyptian patients with chronic hepatitis C (CHC), and its impact on their virologic response when treated with directly acting antiviral (DAA) medications.

Patients and methods

Adult patients with CHC were divided into 2 groups; Diabetic patients, and Non diabetic patients serving as control group. All patients were subjected to thorough clinical evaluation, basic biochemical laboratory tests including fasting blood glucose/glycosylated haemoglobin (HbA1C), and virologic assay. They were treated with various combined DAAs, and were monitored during, at and after end of treatment.

Results

Diabetic patients constituted 9.85 % of CHC, and had generally worse laboratory tests (significantly higher transaminases, platelet count, Fib4 and hepatic steatosis) than non diabetic patients, and a less sustained virologic response (SVR) (significantly in Sofosbuvir (SOF) + pegylated interferon (PegIFN) + ribavirin (RBV), SOF + RBV, SOF + daclatasvir (DAC)). Although DM did not play a significant influence on SVR, yet Fib4 and SOF + RBV + PEG-IFN were significant factors affecting SVR among diabetics, while female gender and viraemia were significant factors affecting SVR among non diabetics. Hepatic fibrosis and SOF/RBV significantly influenced SVR in both groups.

Conclusions

Diabetic patients with CHC have worse liver biochemical profile, yet DM per se did not influence the virologic response to DAAs, however, some factors played roles in affecting SVR among them.

背景和研究目的:丙型肝炎病毒(HCV)会损害血糖平衡,从而影响临床症状和预后。本研究旨在评估糖尿病(DM)对埃及慢性丙型肝炎(CHC)患者的影响,以及在使用直接作用抗病毒药物(DAA)治疗时对其病毒学应答的影响:成年 CHC 患者分为两组:糖尿病患者和作为对照组的非糖尿病患者。所有患者都接受了全面的临床评估、基础生化实验室检测(包括空腹血糖/糖化血红蛋白(HbA1C))和病毒学检测。他们接受了各种联合 DAAs 治疗,并在治疗期间、治疗结束时和治疗结束后接受了监测:与非糖尿病患者相比,糖尿病患者的实验室检查结果普遍较差(转氨酶、血小板计数、Fib4和肝脏脂肪变性显著升高),持续病毒学应答(SVR)也较低(索非布韦(SOF)+聚乙二醇干扰素(PegIFN)+利巴韦林(RBV)、SOF+RBV、SOF+达卡他韦(DAC)的持续病毒学应答显著降低)。虽然 DM 对 SVR 没有显著影响,但 Fib4 和 SOF + RBV + PEG-IFN 是糖尿病患者 SVR 的显著影响因素,而女性性别和病毒血症则是非糖尿病患者 SVR 的显著影响因素。肝纤维化和SOF/RBV对两组患者的SVR均有显著影响:结论:CHC 糖尿病患者的肝脏生化指标较差,但 DM 本身并不影响他们对 DAAs 的病毒学应答,然而,某些因素会影响他们的 SVR。
{"title":"Diabetic patients with chronic hepatitis C virus response compared to non diabetics when treated with directly acting antiviral therapy","authors":"Raghda N. Marzaban ,&nbsp;Hesham I. AlMekhzangy ,&nbsp;Wafaa ElAkel ,&nbsp;Tamer M ElBaz ,&nbsp;Yehia M. ElShazly ,&nbsp;Kadry ElSaeed ,&nbsp;Mahmoud Anees ,&nbsp;Mohamed Said ,&nbsp;Magdy A. ElSerafy ,&nbsp;Gamal G. Esmat ,&nbsp;Wahid H. Doss","doi":"10.1016/j.ajg.2023.12.006","DOIUrl":"10.1016/j.ajg.2023.12.006","url":null,"abstract":"<div><h3>Background and study aims</h3><p>Hepatitis C virus (HCV) impairs glucose homoestasis, thus influences its clinical picture and prognosis.</p><p>This study aimed at evaluating Diabetes mellitus (DM) on Egyptian patients with chronic hepatitis C (CHC), and its impact on their virologic response when treated with directly acting antiviral (DAA) medications.</p></div><div><h3>Patients and methods</h3><p>Adult patients with CHC were divided into 2 groups; Diabetic patients, and Non diabetic patients serving as control group. All patients were subjected to thorough clinical evaluation, basic biochemical laboratory tests including fasting blood glucose/glycosylated haemoglobin (HbA1C), and virologic assay. They were treated with various combined DAAs, and were monitored during, at and after end of treatment.</p></div><div><h3>Results</h3><p>Diabetic patients constituted 9.85 % of CHC, and had generally worse laboratory tests (significantly higher transaminases, platelet count, Fib4 and hepatic steatosis) than non diabetic patients, and a less sustained virologic response (SVR) (significantly in Sofosbuvir (SOF) + pegylated interferon (PegIFN) + ribavirin (RBV), SOF + RBV, SOF + daclatasvir (DAC)). Although DM did not play a significant influence on SVR, yet Fib4 and SOF + RBV + PEG-IFN were significant factors affecting SVR among diabetics, while female gender and viraemia were significant factors affecting SVR among non diabetics. Hepatic fibrosis and SOF/RBV significantly influenced SVR in both groups.</p></div><div><h3>Conclusions</h3><p>Diabetic patients with CHC have worse liver biochemical profile, yet DM per se did not influence the virologic response to DAAs, however, some factors played roles in affecting SVR among them.</p></div>","PeriodicalId":48674,"journal":{"name":"Arab Journal of Gastroenterology","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139913803","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Colorectal cancer subtyping and immune landscape analysis based on natural killer cell-related genes 基于自然杀伤细胞相关基因的结直肠癌亚型和免疫景观分析。
IF 1.4 4区 医学 Q3 Medicine Pub Date : 2024-05-01 DOI: 10.1016/j.ajg.2024.03.005
Mei Ding , Jianchao Gao , Jinyan Wang , Zongfu Li , Xiangliang Gong , Zhiyu Cui , Changjun Li , Hongjun Xue , Dandan Li , Yigang Wang

Background and study aims

The prognosis of colorectal cancer (CRC) is related to natural killer (NK) cells, but the molecular subtype features of CRC based on NK cells are still unknown. This study aimed to identify NK cell-related molecular subtypes of CRC and analyze the survival status and immune landscape of patients with different subtypes.

Patients/material and methods

mRNA expression data, single nucleotide variant (SNV) data, and clinical information of CRC patients were obtained from The Cancer Genome Atlas. Differentially expressed genes (DEGs) were obtained through differential analysis, and the intersection was taken with NK cell-associated genes to obtain 103 NK cell-associated CRC DEGs (NCDEGs). Based on NCDEGs, CRC samples were divided into three clusters through unsupervised clustering analysis. Survival analysis, immune analysis, Gene Set Enrichment Analysis (GSEA), and tumor mutation burden (TMB) analysis were performed. Finally, NCDEG-related small-molecule drugs were screened using the CMap database.

Results

Survival analysis revealed that cluster2 had a lower survival rate than cluster1 and cluster3 (p < 0.05). Immune infiltration analysis found that the immune infiltration levels and immune checkpoint expression levels of cluster1_3 were substantially higher than those of cluster2, and the tumor purity was the opposite (p < 0.05). GSEA presented that cluster1_3 was significantly enriched in the chemokine signaling pathway, ECM receptor interaction, and antigen processing and presentation pathways (p < 0.05). The TMB of cluster1_3 was significantly higher than that of cluster2 (p < 0.05). Genes with the highest mutation rate in CRC were APC, TP53, TTN, and KRAS. Drug prediction results showed that small-molecule drugs that reverse the upregulation of NCDEGs, deoxycholic acid, dipivefrine, phenformin, and other drugs may improve the prognosis of CRC.

Conclusion

NK cell-associated CRC subtypes can be used to evaluate the tumor characteristics of CRC patients and provide an important reference for CRC patients.

研究背景和目的:结直肠癌(CRC)的预后与自然杀伤细胞(NK)有关,但基于NK细胞的CRC分子亚型特征尚不清楚。本研究旨在确定与NK细胞相关的CRC分子亚型,并分析不同亚型患者的生存状况和免疫格局。患者/材料和方法:从癌症基因组图谱(The Cancer Genome Atlas)中获取CRC患者的mRNA表达数据、单核苷酸变异(SNV)数据和临床信息。通过差异分析获得差异表达基因(DEGs),并与NK细胞相关基因相交,得到103个NK细胞相关的CRC DEGs(NCDEGs)。根据 NCDEGs,通过无监督聚类分析将 CRC 样本分为三组。此外,还进行了生存分析、免疫分析、基因组富集分析(Gene Set Enrichment Analysis,GSEA)和肿瘤突变负荷分析(Tumor mutation burden,TMB)。最后,利用 CMap 数据库筛选了与 NCDEG 相关的小分子药物:结果:生存率分析表明,群组2的生存率低于群组1和群组3(p 结论:群组2的生存率低于群组1和群组3):NK细胞相关的CRC亚型可用于评估CRC患者的肿瘤特征,为CRC患者提供重要参考。
{"title":"Colorectal cancer subtyping and immune landscape analysis based on natural killer cell-related genes","authors":"Mei Ding ,&nbsp;Jianchao Gao ,&nbsp;Jinyan Wang ,&nbsp;Zongfu Li ,&nbsp;Xiangliang Gong ,&nbsp;Zhiyu Cui ,&nbsp;Changjun Li ,&nbsp;Hongjun Xue ,&nbsp;Dandan Li ,&nbsp;Yigang Wang","doi":"10.1016/j.ajg.2024.03.005","DOIUrl":"10.1016/j.ajg.2024.03.005","url":null,"abstract":"<div><h3>Background and study aims</h3><p>The prognosis of colorectal cancer (CRC) is related to natural killer (NK) cells, but the molecular subtype features of CRC based on NK cells are still unknown. This study aimed to identify NK cell-related molecular subtypes of CRC and analyze the survival status and immune landscape of patients with different subtypes.</p></div><div><h3>Patients/material and methods</h3><p>mRNA expression data, single nucleotide variant (SNV) data, and clinical information of CRC patients were obtained from The Cancer Genome Atlas. Differentially expressed genes (DEGs) were obtained through differential analysis, and the intersection was taken with NK cell-associated genes to obtain 103 NK cell-associated CRC DEGs (NCDEGs). Based on NCDEGs, CRC samples were divided into three clusters through unsupervised clustering analysis. Survival analysis, immune analysis, Gene Set Enrichment Analysis (GSEA), and tumor mutation burden (TMB) analysis were performed. Finally, NCDEG-related small-molecule drugs were screened using the CMap database.</p></div><div><h3>Results</h3><p>Survival analysis revealed that cluster2 had a lower survival rate than cluster1 and cluster3 (<em>p</em> &lt; 0.05). Immune infiltration analysis found that the immune infiltration levels and immune checkpoint expression levels of cluster1_3 were substantially higher than those of cluster2, and the tumor purity was the opposite (<em>p</em> &lt; 0.05). GSEA presented that cluster1_3 was significantly enriched in the chemokine signaling pathway, ECM receptor interaction, and antigen processing and presentation pathways (<em>p</em> &lt; 0.05). The TMB of cluster1_3 was significantly higher than that of cluster2 (<em>p</em> &lt; 0.05). Genes with the highest mutation rate in CRC were APC, TP53, TTN, and KRAS. Drug prediction results showed that small-molecule drugs that reverse the upregulation of NCDEGs, deoxycholic acid, dipivefrine, phenformin, and other drugs may improve the prognosis of CRC.</p></div><div><h3>Conclusion</h3><p>NK cell-associated CRC subtypes can be used to evaluate the tumor characteristics of CRC patients and provide an important reference for CRC patients.</p></div>","PeriodicalId":48674,"journal":{"name":"Arab Journal of Gastroenterology","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140892525","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
期刊
Arab Journal of Gastroenterology
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