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Risk Factors of Portal Vein Thrombosis in Patients with Different Child-Pugh Classes Liver Cirrhosis 不同Child-Pugh型肝硬化患者门静脉血栓形成的危险因素分析
Q3 Medicine Pub Date : 2023-04-28 DOI: 10.22416/1382-4376-2023-33-2-45-59
M. Nadinskaia, K. Kodzoeva, Kseniya A. Gulyaeva, Mariia-Doris E. Khen, Diana I. Koroleva, Maxim Privalov, Amina Kh. Tekaeva, Vladislav R. Fedorov, Sergey G. Prokofev, Nadinskaia M.Yu, Kodzoeva Kh.B, M. A. Tekaeva, A.Kh, S. Risk, М.Ю. Надинская, Х.Б. Кодзоева, К.А. Гуляева, М.-Д.Э. Хэн, Д.И. Королева, М.А. Привалов1, А.Х. Текаева, В.Р. Федоров, С.Г. Прокофьев
Aim: to evaluate the frequency of portal vein thrombosis (PVT) and build predictive models of the development of PVT for patients with liver cirrhosis (LC) of A and B/C classes by Child-Pugh.Materials and methods. Research design is a case-control. The Case group included 130 patients with newly diagnosed PVT not caused by invasive hepatocellular carcinoma (HCC); 29 patients were assigned to class A, 101 patients were assigned to class B/C. From the database of cirrhotic patients without PVT 60 Controls for class A and 205 for B/C were selected using sratified randomization by sex, age and etiology of cirrhosis. The Mann-Whitney U-test and Pearson's chi-squared test were used to compare the groups. Odds ratios (OR) and 95 % confidence intervals (95 % CI) were calculated. Logistic regression models are constructed with the separation of the sample into training and test (0.7; 0.3). The operational characteristics of the models were calculated on the test sample; ROC analysis was carried out, the area under the ROC curve (AUC) was calculated.Results. The overall frequency of PVT was 4.1 % (95 % CI 2.7-5.8 %) in class A and 10.4 % (95 % CI 8.5-12.5 %) class B/C. Patients with class A and B/C PVT differed from the corresponding controls by more severe portal hypertension: the frequency of bleeding / number of interventions on varices compared with the control were 41/45 % vs. 7/8 % (p < 0.001) for class A and 25.7/30.7 % vs. 16.1/16.1 % (p < 0.05) for class B/C, ascites frequency was 24 % vs. 8 % (p < 0.05) for class A and 89.1 % vs. 68.3 % (p < 0.001) for class B/C. The cutoff by the portal vein diameter was the same for both classes — 13.4 mm; the spleen length was similar and amounted 17.5 mm for class A, 17.1 mm for class B/C. Patients with PVT differed from the corresponding controls by neutrophil-to-lymphocyte ratio: class A 2.33 (1.82; 3.61) vs. 1.76 (1.37; 2.20), p < 0.01, class B/C 2.49 (1.93; 3.34) vs. 2.15 (1.49; 3.26), p < 0.05. Patients of class B/C had a higher incidence of newly diagnosed malignant tumors - 23.8% (primarily HCC that does not invade the portal vein), compared with control and cases of class A - 6.3 % and 3 % (p < 0.05), respectively. The best model for class A included variceal bleeding, ascites, portal vein diameter, absolute number of neutrophils, for class B — ascites, spleen length, portal vein diameter, malignant tumors / local factors; sensitivity, specificity, accuracy and AUC were 79.3 %, 90 %, 86.5 %, 0.897 and 73.3 %, 68.3 %, 69.9 %, 0.789, respectively.Conclusion. Independently of the Child-Pugh class of LC, the main risk factor for PVT is severe portal hypertension.
目的:应用Child-Pugh方法评价A、B/C级肝硬化患者门静脉血栓形成(PVT)的发生频率,建立门静脉血栓形成的预测模型。材料和方法。研究设计为病例对照。病例组包括130例新诊断的非侵袭性肝细胞癌(HCC)引起的PVT患者;A组29例,B/C组101例。从无PVT的肝硬化患者数据库中,按性别、年龄和肝硬化病因进行随机化,选择A级60例对照,B/C级205例对照。采用Mann-Whitney u检验和Pearson卡方检验进行组间比较。计算优势比(OR)和95%置信区间(95% CI)。将样本分离为训练和测试(0.7;0.3)。在试验样品上计算了模型的运行特性;进行ROC分析,计算ROC曲线下面积(AUC)。PVT的总体频率为4.1%(95%可信区间2.7 - -5.8%)在课堂上和10.4%(95%可信区间8.5 - -12.5%)类B / C。类A和B / C PVT患者不同于相应的更严重的门静脉高压控制:在静脉曲张出血/数量的干预的频率与控制是41/45 %与7/8 %为A类(p < 0.001)和25.7/30.7 %与16.1/16.1 % (p < 0.05), B / C类,腹水频率是24%与8% (p < 0.05), A类和89.1%和68.3% (p < 0.001)为类B / C。两类患者门静脉直径的临界值相同,均为13.4 mm;脾脏长度相似,A类为17.5 mm, B/C类为17.1 mm。PVT患者的中性粒细胞与淋巴细胞比值与相应的对照组不同:A类2.33 (1.82;3.61) vs. 1.76 (1.37;2.20), p < 0.01, B/C类2.49 (1.93;3.34)和2.15 (1.49;3.26), p < 0.05。B/C类患者新诊断恶性肿瘤的发生率为23.8%(主要为未侵犯门静脉的HCC),高于对照组的6.3%和a类患者的3% (p < 0.05)。最好的模型类包括静脉曲张的出血、腹水,门静脉直径,绝对中性粒细胞的数量,为B类——腹水、脾长度、门静脉直径、恶性肿瘤/地方因素;灵敏度、特异度、准确度和AUC分别为79.3%、90%、86.5%、0.897和73.3%、68.3%、69.9%、0.789。除了Child-Pugh类型的LC外,PVT的主要危险因素是严重的门静脉高压。
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引用次数: 1
Ilaser Submucous Destruction in the Treatment of Hemorrhoids 激光粘膜下破坏治疗痔疮
Q3 Medicine Pub Date : 2023-04-28 DOI: 10.22416/1382-4376-2023-33-2-70-78
S. A. Frolov, D. V. Vyshegorodtsev, A. M. Kuzminov, Vyaheslav Yuliya L. Trubacheva, Yu. Korolik, I. S. Bogormistrov, Ivan A. Mukhin, Arseniy N. Ryndin, Akbermet A. Anarbaeva, С.А. Фролов, Д.В. Вышегородцев, А. М. Кузьминов, Ю.Л. Трубачева, В.Ю. Королик, И.С. Богормистров, И.А. Мухин, А.Н. Рындин, А.А. Анарбаева
Aim: to improve the results of treatment in patients with hemorrhoids of the 2nd and 3rd stages.Materials and methods. The prospective study included 60 patients with hemorrhoids of the 2nd and 3rd stages. All patients underwent destruction of internal hemorrhoids with a fiber laser with a diode pump with a wavelength of 1940 nm. The technique is based on the effect of laser energy on the cavernous tissue of the internal hemorrhoidal node and on the terminal branches of the upper rectal artery. The efficiency of the destruction of internal hemorrhoids and the frequency of relapses of the disease were evaluated. The effectiveness of the proposed method was evaluated using anoscopy, measurement of the size of internal hemorrhoidal nodes, transrectal ultrasound with dopplerography. The analysis of the intensity of the pain syndrome, the consumption of nonsteroidal anti-inflammatory drugs and the assessment of the quality of life on the SF-36 scale was carried out. Sphincterometry was performed in all patients to determine the possible effect of laser radiation on the rectal locking apparatus. To assess the possible causes of complications, a single-factor analysis of the amount of energy transferred to each hemorrhoidal node and the total amount of energy spent on the operation was conducted.Results. In all patients, by day 7 after surgery, the pain syndrome in 43 patients (75.4 %) corresponded to 0 points according to VAS. In 3 patients (5 %) intraoperative hemorrhage developed. In the early postoperative period, 5 patients (8.3 %) had 7 complications: 5 cases of thrombosis of the external hemorrhoidal node and 2 — of acute urinary retention. The conducted single-factor analysis showed the dependence of the development of complications on the energy transferred to each hemorrhoidal node and its total amount for the entire operation. In terms of up to 6 months, there were no signs of a return of the disease in any case (hemorrhoidal prolapse and blood discharge). The detected hemorrhoids before the operation, a month after the operation, were not visualized, which persisted after 6 months. The performed transrectal ultrasound examination with spectral-wave dopplerography for up to 6 months allowed to diagnose a persistent decrease in blood flow along the terminal branches of the upper rectal artery compared with preoperative values. When performed sphincterometry, there was no change in the parameters of the anal sphincter function compared to preoperative parameters.Conclusion. The proposed method applying a fiber laser with a diode pump with a wavelength of 1940 nm makes it possible to affect transdermally the internal hemorrhoidal node without damaging the mucosa of the anal canal. The absence of postoperative wounds in the anal canal leads to a decrease in pain syndrome, and by day 7 there are no clinical manifestations of hemorrhoids. The method of laser destruction of internal hemorrhoids can be used in outpatient conditions and can improve th
目的:提高二、三期痔疮患者的治疗效果。材料和方法。前瞻性研究包括60例2期和3期痔疮患者。所有患者都接受了波长为1940 nm的二极管泵浦光纤激光器的内痔破坏。该技术是基于激光能量对内痔结海绵状组织和直肠上动脉末端分支的影响。评估内痔的破坏效率和疾病复发的频率。通过肛门镜检查、内痔淋巴结大小测量、经直肠超声多普勒成像评估该方法的有效性。分析两组患者疼痛综合征的强度、非甾体类抗炎药的使用情况及SF-36生活质量评价。所有患者均行括约肌测量术,以确定激光照射对直肠锁定装置可能产生的影响。为了评估并发症的可能原因,我们对每个痔结的能量转移量和手术中消耗的总能量进行了单因素分析。在所有患者中,术后第7天,有43例(75.4%)患者的疼痛综合征根据VAS评分达到0分。术中出血3例(5%)。术后早期5例(8.3%)出现7例并发症,其中外痔结血栓形成5例,急性尿潴留2例。单因素分析显示,并发症的发生与整个手术过程中输送到各个痔结的能量及其总量有关。在长达6个月的时间里,在任何情况下都没有疾病复发的迹象(痔疮脱垂和出血)。术前发现的痔疮,术后1个月未见,术后6个月未见。经过长达6个月的经直肠超声波谱多普勒检查,可以诊断出与术前相比,直肠上动脉末端分支的血流持续减少。当进行括约肌测量时,肛门括约肌功能参数与术前参数相比没有变化。采用波长为1940 nm的二极管泵浦光纤激光器,可以在不损伤肛管粘膜的情况下经皮影响内痔结。术后肛管无创面,疼痛综合征减轻,术后第7天无痔疮临床表现。激光破坏内痔的方法可以在门诊条件下使用,可以提高患者术后早期的生活质量。
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引用次数: 0
Intrahepatic Cholestasis in Non-Alcoholic Fatty Liver Disease: Pathogenesis and Role of Ademetionine in Treatment 非酒精性脂肪肝的肝内胆汁淤积:发病机制和腺苷在治疗中的作用
Q3 Medicine Pub Date : 2023-04-28 DOI: 10.22416/1382-4376-2023-33-2-79-86
Ye.N. Shirokova
Aim: to evaluate features of intrahepatic cholestasis (IHC) pathogenesis in non-alcoholic fatty liver disease (NAFLD), as well as role of ademetionine in treatment of this condition.Key statements. NAFLD is the most frequent chronic diffuse liver disease. Increase in proportion of people with excess weight, obesity, and metabolic dysregulation leads to higher rates of NAFLD. Concomitant IHC is present in 30 % of NAFLD patients, while it is associated with more active disease course and possible worsening of prognosis. Impairment of adipocyte and hepatocyte metabolism, gut dysbiosis, and inherent factors are recognized as significant factors for NAFLD development. In NAFLD patients most of IHC cases are related to functional cholestasis. IHC in NAFLD is associated with increased risks of fibrosis and all-cause death. Ademetionine may restore transmethylation and improve rheologic properties of hepatocyte membranes in liver disease. In IHC patients treatment with ademetionine led to decreased serum bilirubin concentrations, as well as lowering of the liver transaminases' and alkaline phosphatase activities. At the same time improvement of symptoms severity, including itching, was noted. Taking into account the efficacy of ademetionine in IHC in NAFLD patients, its' use was included in the national clinical guidelines.Conclusion. Use of ademetionine in NAFLD with concomitant IHC is feasible from pathogenesis perspective and may be effective in clinical practice.
目的:探讨非酒精性脂肪性肝病(NAFLD)肝内胆汁淤积(IHC)发病机制的特点,以及腺苷在治疗此病中的作用。关键语句。NAFLD是最常见的慢性弥漫性肝病。超重、肥胖和代谢失调人群比例的增加导致NAFLD发病率升高。30%的NAFLD患者存在合并IHC,但它与更活跃的病程和可能的预后恶化有关。脂肪细胞和肝细胞代谢障碍、肠道生态失调和固有因素被认为是NAFLD发展的重要因素。在NAFLD患者中,大多数IHC病例与功能性胆汁淤积有关。NAFLD患者IHC与纤维化和全因死亡风险增加相关。腺苷腺苷可能恢复转甲基化和改善肝脏疾病的肝细胞膜流变学特性。在免疫组化患者中,用腺苷腺苷治疗可降低血清胆红素浓度,降低肝转氨酶和碱性磷酸酶活性。同时注意到症状严重程度的改善,包括瘙痒。考虑到腺苷腺苷在NAFLD患者免疫组化中的疗效,将其应用纳入国家临床指南。从发病机制上看,在NAFLD合并免疫组化中应用腺苷是可行的,在临床实践中可能是有效的。
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引用次数: 0
Application of N-Acetyl-Glucosaminil-N-Acetyl-Muramyl Dipeptide during Triple Component Anti-Helicobacter Pylori Therapy in the Period of Coronavirus Infection COVID-19 n -乙酰-氨基葡萄糖- n -乙酰- muramyl二肽在新型冠状病毒感染期抗幽门螺杆菌三组分治疗中的应用
Q3 Medicine Pub Date : 2023-04-28 DOI: 10.22416/1382-4376-2023-33-2-60-69
M. R. Konorev, E. N. Tyshevich, R. A. Pavlyukov, М.Р. Конорев, Е.Н. Тышевич, Р.А. Павлюков, Roman A. Pavlyukov — Senior Lecturer
Aim: evaluation of the incidence of COVID-19 infection after three-component H. pylori eradication therapy while taking N-acetyl-glucosaminyl-N-acetyl-muramyl dipeptide (GMDP).Materials and methods. A prospective randomized comparative clinical study was carried out. The study included 208 patients (147 men, 61 women; mean age — 48.1 ± 14.5 years) with duodenal ulcer associated with Helicobacter pylori (H. pylori) who underwent eradication therapy. H. pylori in the gastric mucosa was detected by a morphological method and a rapid urease test before treatment and 6-8 weeks after the end of treatment and the withdrawal of all drugs. Patients were divided into three groups according to treatment protocols: omeprazole 0.04 g/day, clarithromycin 1 g/day, amoxicillin 2 g/day (OСA; n = 103); omeprazole 0.04 g/day, clarithromycin 1 g/day, amoxicillin 2 g/day + GMDP 0.001 g/day (OCAL1; n = 61) or 0.01 g/day (OCAL10; n = 44) for 10 days. Detection of SARS-CoV-2 RNA by PCR was carried out from April 2020 to April 2022. Tracking completeness was 96.6 %.Results. The frequency of H. pylori eradication depending on “intention to treat” (ITT) and “per protocol” (PP): OCA — 79 % (95 % CI: 71-87) and 83 % (95 % CI: 75-91); OCAL1 — 95 % (95 % CI: 88-100) and 97 % (95 % CI: 92-100); OCAL10 — 96 % (95 % CI: 89-100) and 98 % (95 % CI: 93-100) respectively. The frequency of adverse reactions depending on ITT and PP: OCA — 24 % (95 % CI: 16-33) and 26 % (95 % CI: 17-35); OCAL1 — 2 % (95 % CI: 0.01-8) and 2 % (95 % CI: 0.01-8); OCAL10 — 2 % (95 % CI: 0.01-7) and 2 % (95 % CI: 0.01-7). The incidence of COVID-19 infection depending on ITT and PP: OCA — 9 % (95 % CI: 3-14) and 9 % (95 % CI: 3-15); OCAL1 + OCAL10 — 1 % (95 % CI: 0.003-1.9) and 1 % (95 % CI: 0.001-2.9), respectively.Conclusions. In H. pylori-infected patients, GMDP (an immunomodulator based on L. bulgaricus) at a dose of 1-10 mg/day, during a 10-day triple eradication therapy, allows a significant (p < 0.05) increase in the frequency of H. pylori eradication and reduce the incidence of adverse reactions compared with a 10-day protocol without adjuvant therapy with GMDP. There was a significant (p < 0.05) decrease in the incidence of COVID-19 infection after H. pylori eradication therapy with GMDP.
目的:评价三组分幽门螺杆菌根除治疗同时服用n -乙酰-氨基葡萄糖- n -乙酰-muramyl二肽(GMDP)后COVID-19感染的发生率。材料和方法。进行前瞻性随机对照临床研究。该研究包括208例患者(147例男性,61例女性;平均年龄- 48.1±14.5岁),十二指肠溃疡伴幽门螺杆菌(H. pylori),接受根除治疗。治疗前、治疗结束及停药后6 ~ 8周分别采用形态学法和快速脲酶试验检测胃黏膜幽门螺杆菌。根据治疗方案将患者分为三组:奥美拉唑0.04 g/d、克拉霉素1 g/d、阿莫西林2 g/d (OСA;N = 103);奥美拉唑0.04 g/天,克拉霉素1 g/天,阿莫西林2 g/天+ GMDP 0.001 g/天(OCAL1;n = 61)或0.01 g/d (OCAL10;N = 44),持续10天。2020年4月至2022年4月,采用PCR方法检测SARS-CoV-2 RNA。跟踪完成度为96.6%。幽门螺杆菌根除的频率取决于“治疗意向”(ITT)和“每个方案”(PP): OCA - 79% (95% CI: 71-87)和83% (95% CI: 75-91);OCAL1 - 95% (95% CI: 88-100)和97% (95% CI: 92-100);OCAL10 - 96% (95% CI: 89-100)和98% (95% CI: 93-100)。不良反应发生频率取决于ITT和PP: OCA - 24% (95% CI: 16-33)和26% (95% CI: 17-35);OCAL1 - 2% (95% CI: 0.01-8)和2% (95% CI: 0.01-8);OCAL10 - 2% (95% CI: 0.01-7)和2% (95% CI: 0.01-7)。COVID-19感染的发生率取决于ITT和PP: OCA - 9% (95% CI: 3-14)和9% (95% CI: 3-15);OCAL1 + OCAL10 - 1% (95% CI: 0.003-1.9)和1% (95% CI: 0.001-2.9)。在幽门螺杆菌感染的患者中,在为期10天的三联根除治疗中,GMDP(一种基于保加利亚乳杆菌的免疫调节剂)剂量为1- 10mg /天,与不使用GMDP辅助治疗的10天方案相比,可以显著(p < 0.05)增加幽门螺杆菌根除的频率,并降低不良反应的发生率。用GMDP治疗幽门螺杆菌后COVID-19感染发生率显著(p < 0.05)降低。
{"title":"Application of N-Acetyl-Glucosaminil-N-Acetyl-Muramyl Dipeptide during Triple Component Anti-Helicobacter Pylori Therapy in the Period of Coronavirus Infection COVID-19","authors":"M. R. Konorev, E. N. Tyshevich, R. A. Pavlyukov, М.Р. Конорев, Е.Н. Тышевич, Р.А. Павлюков, Roman A. Pavlyukov — Senior Lecturer","doi":"10.22416/1382-4376-2023-33-2-60-69","DOIUrl":"https://doi.org/10.22416/1382-4376-2023-33-2-60-69","url":null,"abstract":"Aim: evaluation of the incidence of COVID-19 infection after three-component H. pylori eradication therapy while taking N-acetyl-glucosaminyl-N-acetyl-muramyl dipeptide (GMDP).Materials and methods. A prospective randomized comparative clinical study was carried out. The study included 208 patients (147 men, 61 women; mean age — 48.1 ± 14.5 years) with duodenal ulcer associated with Helicobacter pylori (H. pylori) who underwent eradication therapy. H. pylori in the gastric mucosa was detected by a morphological method and a rapid urease test before treatment and 6-8 weeks after the end of treatment and the withdrawal of all drugs. Patients were divided into three groups according to treatment protocols: omeprazole 0.04 g/day, clarithromycin 1 g/day, amoxicillin 2 g/day (OСA; n = 103); omeprazole 0.04 g/day, clarithromycin 1 g/day, amoxicillin 2 g/day + GMDP 0.001 g/day (OCAL1; n = 61) or 0.01 g/day (OCAL10; n = 44) for 10 days. Detection of SARS-CoV-2 RNA by PCR was carried out from April 2020 to April 2022. Tracking completeness was 96.6 %.Results. The frequency of H. pylori eradication depending on “intention to treat” (ITT) and “per protocol” (PP): OCA — 79 % (95 % CI: 71-87) and 83 % (95 % CI: 75-91); OCAL1 — 95 % (95 % CI: 88-100) and 97 % (95 % CI: 92-100); OCAL10 — 96 % (95 % CI: 89-100) and 98 % (95 % CI: 93-100) respectively. The frequency of adverse reactions depending on ITT and PP: OCA — 24 % (95 % CI: 16-33) and 26 % (95 % CI: 17-35); OCAL1 — 2 % (95 % CI: 0.01-8) and 2 % (95 % CI: 0.01-8); OCAL10 — 2 % (95 % CI: 0.01-7) and 2 % (95 % CI: 0.01-7). The incidence of COVID-19 infection depending on ITT and PP: OCA — 9 % (95 % CI: 3-14) and 9 % (95 % CI: 3-15); OCAL1 + OCAL10 — 1 % (95 % CI: 0.003-1.9) and 1 % (95 % CI: 0.001-2.9), respectively.Conclusions. In H. pylori-infected patients, GMDP (an immunomodulator based on L. bulgaricus) at a dose of 1-10 mg/day, during a 10-day triple eradication therapy, allows a significant (p < 0.05) increase in the frequency of H. pylori eradication and reduce the incidence of adverse reactions compared with a 10-day protocol without adjuvant therapy with GMDP. There was a significant (p < 0.05) decrease in the incidence of COVID-19 infection after H. pylori eradication therapy with GMDP.","PeriodicalId":33798,"journal":{"name":"Rossiiskii zhurnal gastroenterologii gepatologii koloproktologii","volume":"40 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79700333","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Large Rearrangements in Genes Responsible for Familial Adenomatous Polyposis, MUTYH-Associated Polyposis and Peutz–Jeghers Syndrome in Russian Patients 俄罗斯患者家族性腺瘤性息肉病、mutyh相关息肉病和Peutz-Jeghers综合征的基因重排
Q3 Medicine Pub Date : 2023-04-25 DOI: 10.22416/1382-4376-2023-33-1-59-67
A. Loginova, Y. Shelygin, V. Shubin, A. M. Kuzminov, D. Y. Pikunov, T. A. Saveleva, A. S. Tsukanov
Аim: to reveal the rate of large rearrangements in the genes responsible for familial adenomatous polyposis, MUTYH-associated polyposis and Peutz–Jeghers syndrome.Materials and methods. The MLPA method was used for identification of large rearrangements. A total number of 135 patients was included in the study: 83 patients with a clinical diagnosis of “familial adenomatous polyposis”, 18 — with suspected MUTYH-associated polyposis, and 34 — with a clinical diagnosis of “Peutz–Jeghers syndrome”.Results. Seven large deletions and one large duplication in the APC gene were identified in 83 patients with classic familial adenomatous polyposis, with rate of large rearrangements 9.6 % (8/83). In 18 patients with suspected MUTYH-associated polyposis, no large rearrangements were found in the MUTYH gene. Four large deletions in the STK11 gene (12 %, 4/34) were detected in 34 patients with Peutz–Jeghers syndrome.Conclusion. For the first time, the expediency of including the method of detecting large rearrangements in routine DNA test list for Russian patients with various hereditary polyposis syndromes is demonstrated. Routine use of MLPA method makes it possible to increase the total frequency of detection of pathogenic variants in the APC and STK11 genes above 90 %. At the same time, the need for searching of large rearrangements in the MUTYH gene were not justified.
Аim:揭示家族性腺瘤性息肉病、mutyh相关息肉病和Peutz-Jeghers综合征的基因大重排率。材料和方法。MLPA法用于鉴定大的重排。共纳入135例患者:83例临床诊断为“家族性腺瘤性息肉病”,18例疑似mutyh相关息肉病,34例临床诊断为“Peutz-Jeghers综合征”。83例典型家族性腺瘤性息肉病患者中发现APC基因7个大缺失和1个大重复,大重排率为9.6%(8/83)。在18例疑似MUTYH相关息肉病患者中,未发现MUTYH基因的大重排。34例Peutz-Jeghers综合征患者中检测到4个STK11基因大缺失(12%,4/34)。首次证明了在俄罗斯各种遗传性息肉综合征患者的常规DNA检测列表中包括检测大重排的方法的便利性。常规应用MLPA法可以将APC和STK11基因致病变异的总检出率提高到90%以上。同时,在MUTYH基因中寻找大型重排的需要是不合理的。
{"title":"Large Rearrangements in Genes Responsible for Familial Adenomatous Polyposis, MUTYH-Associated Polyposis and Peutz–Jeghers Syndrome in Russian Patients","authors":"A. Loginova, Y. Shelygin, V. Shubin, A. M. Kuzminov, D. Y. Pikunov, T. A. Saveleva, A. S. Tsukanov","doi":"10.22416/1382-4376-2023-33-1-59-67","DOIUrl":"https://doi.org/10.22416/1382-4376-2023-33-1-59-67","url":null,"abstract":"Аim: to reveal the rate of large rearrangements in the genes responsible for familial adenomatous polyposis, MUTYH-associated polyposis and Peutz–Jeghers syndrome.Materials and methods. The MLPA method was used for identification of large rearrangements. A total number of 135 patients was included in the study: 83 patients with a clinical diagnosis of “familial adenomatous polyposis”, 18 — with suspected MUTYH-associated polyposis, and 34 — with a clinical diagnosis of “Peutz–Jeghers syndrome”.Results. Seven large deletions and one large duplication in the APC gene were identified in 83 patients with classic familial adenomatous polyposis, with rate of large rearrangements 9.6 % (8/83). In 18 patients with suspected MUTYH-associated polyposis, no large rearrangements were found in the MUTYH gene. Four large deletions in the STK11 gene (12 %, 4/34) were detected in 34 patients with Peutz–Jeghers syndrome.Conclusion. For the first time, the expediency of including the method of detecting large rearrangements in routine DNA test list for Russian patients with various hereditary polyposis syndromes is demonstrated. Routine use of MLPA method makes it possible to increase the total frequency of detection of pathogenic variants in the APC and STK11 genes above 90 %. At the same time, the need for searching of large rearrangements in the MUTYH gene were not justified.","PeriodicalId":33798,"journal":{"name":"Rossiiskii zhurnal gastroenterologii gepatologii koloproktologii","volume":"78 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83746944","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Features of the Parameters of 24-Hours pH-Impedance and High-Resolution Esophageal Manometry in Patients with Barrett's Esophagus on Proton Pump Inhibitors 质子泵抑制剂治疗Barrett食管患者24小时ph阻抗及高分辨率食管测压参数的特征
Q3 Medicine Pub Date : 2023-04-25 DOI: 10.22416/1382-4376-2023-33-1-24-39
I. Maev, D. S. Bordin, E. Barkalova, M. Ovsepyan, E. Valitova, N. G. Kalashnikova, D. Andreev
Аim: to identify predictors of insufficient effectiveness of proton pump inhibitors based on the evaluation of the results of 24-hour pH-impedance and high-resolution esophageal manometry in patients with Barrett's esophagus.Materials and methods. 52 patients with histologically confirmed Barrett's esophagus who are on therapy with proton pump inhibitors were examined. All patients underwent daily pH-impedance and high-resolution esophageal manometry.Results. According to daily pH-impedance, group 1 consisted of 37 patients who responded satisfactorily to antisecretory therapy, group 2 of 15 patients who demonstrated insufficient response to acid-suppressive therapy, 11 of whom had no clinical manifestations. The total number of reflux averaged 55 in group 1 and 106 in group 2. The average number of acid reflux in group 1 was 5.68, in group 2 — 48.5. The average number of non-acid reflux prevailed in patients of group 2 and averaged 58, in group 1 the indicator averaged 47. Evaluation of the results of high-resolution esophageal manometry showed that violations of the structure and function of the esophago-gastric junction were detected in 21 patients out of 52. Disorders of the motility of the thoracic esophagus were detected in 31 patients out of 52. When comparing the frequency of motor disorders from the thoracic esophagus in groups 1 and 2, no significant differences were obtained. However, significantly more frequent registration of violations of the structure and/or function of the esophago-gastric junction was found in the group with unsatisfactory effectiveness of proton pump inhibitors.Conclusion. In a number of patients with Barrett's esophagus, there is an insufficient effect of acid-suppressive therapy and at the same time an asymptomatic course of the disease, which may increase the risk of its progression. Predictors of insufficiently successful treatment of patients with Barrett's esophagus may be both insufficient pharmacological effect of proton pump inhibitors themselves, and motility disorders that cause the presence of non-acid reflux, decreased esophageal clearance, which in turn may cause the patient's symptoms to persist and adversely affect the condition of the esophageal mucosa.
Аim:通过对巴雷特食管患者24小时ph阻抗和高分辨率食管测压结果的评估,确定质子泵抑制剂有效性不足的预测因素。材料和方法。我们对52例经组织学证实的巴雷特食管患者进行了质子泵抑制剂治疗。所有患者均接受每日ph阻抗和高分辨率食管血压测量。根据每日ph阻抗,1组有37例患者对抗分泌治疗反应满意,2组有15例患者对抑酸治疗反应不足,其中11例无临床表现。组1平均反流次数为55次,组2平均反流次数为106次。组1平均胃酸反流次数5.68次,组2平均胃酸反流次数- 48.5次。2组患者出现非胃酸反流的平均次数为58次,1组患者出现非胃酸反流的平均次数为47次。对高分辨率食管测压结果的评估显示,52例患者中有21例检测到食管-胃交界结构和功能的破坏。52例患者中有31例出现胸段食道运动障碍。比较1组和2组胸段食道运动障碍的发生频率,无明显差异。然而,在质子泵抑制剂效果不理想的组中,发现食管胃连接处结构和/或功能破坏的发生率明显更高。在许多巴雷特食管患者中,抑酸治疗效果不足,同时病程无症状,这可能增加其进展的风险。巴雷特食管患者治疗不够成功的预测因素可能是质子泵抑制剂本身的药理作用不足,以及运动障碍导致非酸反流的存在,食管清除率降低,这反过来可能导致患者的症状持续并对食管粘膜状况产生不利影响。
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引用次数: 0
How to Make the Right Choice of Proton Pump Inhibitor for Patients with Gastroesophageal Reflux Disease? 胃食管反流病患者如何正确选择质子泵抑制剂?
Q3 Medicine Pub Date : 2023-04-23 DOI: 10.22416/1382-4376-2023-33-1-68-76
Yulia Evsyutina
Аim: to analyze the main pharmacokinetic properties of proton pump inhibitors (PPIs) and their significance in the treatment of gastroesophageal reflux disease (GERD).Key points. Pantoprazole has a high bioavailability, the absolute bioavailability of pantoprazole at a dose of 40 mg is 77 % from the first dose and does not change with repeated use. Pantoprazole shows a faster onset of action than omeprazole. Simultaneous food intake does not change the bioavailability of pantoprazole. Suppression of hydrochloric acid production while taking pantoprazole accompanies by the achievement of endoscopic remission of GERD by day 28 in 91 % of patients with reflux esophagitis and by day 56 in all patients in the PANSTAR studies. Pantoprazole has little effect on CYP2C19 compared to other PPIs, minimizing the risk of drug-drug interactions. Pantoprazole is the most pH-selective PPI, which determines the specificity of action only in the parietal cells of the stomach and the greatest safety of long-term use in patients with comorbid pathology.Conclusion. PPIs form the basis of the therapy of acid-dependent diseases, and, in particular, gastroesophageal reflux disease. Pantoprazole is distinguished from other PPIs by its persistent high bioavailability, long-term antisecretory effect, and very low affinity for cytochrome P450.
Аim:分析质子泵抑制剂(PPIs)的主要药代动力学特性及其在胃食管反流病(GERD)治疗中的意义。要点。泮托拉唑具有很高的生物利用度,40mg剂量时泮托拉唑的绝对生物利用度为第一次剂量的77%,并且不随重复使用而改变。泮托拉唑比奥美拉唑起效更快。同时进食不会改变泮托拉唑的生物利用度。PANSTAR研究中,91%的反流性食管炎患者在服用泮托拉唑时抑制盐酸产生,并在第28天和所有患者在第56天实现胃镜下胃食管反流缓解。与其他PPIs相比,泮托拉唑对CYP2C19的影响较小,将药物-药物相互作用的风险降至最低。泮托拉唑是ph选择性最强的PPI,这决定了其仅在胃壁细胞中起作用的特异性和长期应用于有合并症病理患者的安全性最大。PPIs是治疗酸依赖性疾病,特别是胃食管反流病的基础。泮托拉唑与其他PPIs的区别在于其持续的高生物利用度、长期的抗分泌作用和对细胞色素P450的极低亲和力。
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引用次数: 0
Physical Activity and Gallstone Disease 体育活动与胆结石疾病
Q3 Medicine Pub Date : 2023-04-23 DOI: 10.22416/1382-4376-2023-33-1-7-14
I. Grigor’eva, T. Notova, T. I. Romanova
Аim: to present data of Russian and foreign studies about association between physical activity (PA) and gallstone disease (GSD).Key point. A low PA level is one of the four major risk factors for chronic non-infectiuos diseases. The frequency of low PA in men and women of the Russian Federation (according to the medical examination in 2016) is 19 %. The global prevalence of GSD is up to 20 % among adults. Many systematic reviews and meta-analyses have confirmed an inverse association between GSD and PA in the world, regardless of potential risk factors for GSD, with a clear dose-dependent effect — the relative risk (RR) of GSD was 0.87 (95 % CI 0.83–0.92) per 20 metabolic equivalents (MET) of PA per week. According to our results of an epidemiological survey in the framework of the WHO MONICA program in Novosibirsk (n = 870) among women aged 25–64 with low total PA (less than 800 MET/min/week), as well as with the first class of PA in leisure-time, GSD occurred much more often (class 1 — 33 %, classes 2–4 — 8.7–11.0 %, p < 0.01). PA favorably affects almost all mechanisms of gallstone formation: improves cholesterol metabolism in bile, increases serum HDL cholesterol, bile acid synthesis, stimulates the release of cholecystokinin, reduces mucin hypersecretion, increases the diversity and richness of the intestinal microbiota. Daily PA serves as a preventive measure for GSD: the risk of GSD is reduced by 66 % (95 % CI 0.18–0.86).Conclusion. EASL has recognized PA as a protective agent against gallstone formation.
Аim:介绍俄罗斯和国外关于体育活动(PA)和胆结石疾病(GSD)之间关系的研究数据。关键。低PA水平是慢性非传染性疾病的四大危险因素之一。俄罗斯联邦男性和女性低PA的频率(根据2016年的医疗检查)为19%。全球成人中GSD患病率高达20%。许多系统评价和荟萃分析已经证实,无论GSD的潜在危险因素如何,GSD和PA在世界范围内呈负相关,具有明显的剂量依赖效应——GSD的相对风险(RR)为0.87 (95% CI 0.83-0.92)每20代谢当量(MET)每周PA。根据我们在新西伯利亚WHO MONICA计划框架下的流行病学调查结果(n = 870),在25-64岁总PA低于800 MET/min/week的女性中,以及休闲时间PA为一级的女性中,GSD发生的频率更高(1 - 33%,2-4 - 8.7 - 11.0%,p < 0.01)。PA对胆石形成的几乎所有机制都有积极影响:改善胆汁中胆固醇代谢,增加血清HDL胆固醇、胆汁酸合成,刺激胆囊收缩素释放,减少粘蛋白高分泌,增加肠道菌群的多样性和丰富性。每日PA可作为GSD的预防措施:GSD的风险降低66% (95% CI 0.18-0.86)。EASL已经确认PA是防止胆结石形成的保护剂。
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引用次数: 1
The Centenary of the Birth of Professor Georgy I. Dorofeev 格奥尔基·多罗费耶夫教授诞辰一百周年
Q3 Medicine Pub Date : 2023-02-28 DOI: 10.22416/1382-4376-2022-32-5-7-15
A. V. Gordienko
The article is devoted to one of the leaders of the Leningrad school of gastroenterologists of the second half of the last century. For almost two decades, he headed the oldest department of the Military Medical Academy — the Department of Hospital Therapy, turning it into one of the famous gastroenterological centers of the country of that period. The author offers the reader the complete biography of this famous scientist. One of the most important scientific merits of G.I. Dorofeev is the creation of an original scientific internist school. Many followers of it headed and continue to head the leading scientific centers of the country.
这篇文章是献给上世纪下半叶列宁格勒胃肠病学学院的一位领导者的。在将近二十年的时间里,他领导着军事医学院最古老的部门——医院治疗部,把它变成了那个时期全国著名的胃肠病学中心之一。作者向读者提供了这位著名科学家的完整传记。G.I.多罗费耶夫最重要的科学功绩之一是创立了一个独创的科学内科学派。它的许多追随者曾经领导并继续领导着全国主要的科学中心。
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引用次数: 0
Screening and Early Diagnosis of Hepatocellular Cancer and Optimization of Diagnostic Imaging Techniques: A Review and Conclusion of the Expert Panel 肝细胞癌的筛查、早期诊断和诊断影像技术的优化:专家小组的回顾和结论
Q3 Medicine Pub Date : 2023-02-28 DOI: 10.22416/1382-4376-2022-32-5-16-23
V. Breder, R. Alikhanov, S. Bagnenko, E. Bessonova, V. Isakov, N. E. Kudashkin, B. Medvedeva, A. Mishchenko, M. Novruzbekov, V. Rudakov
Аim: to describe modern approaches for screening and early diagnosis of hepatocellular carcinoma (HCC).Key points. Screening for HCC in high-risk groups (cirrhosis of any etiology, patients with chronic viral hepatitis B and patients with F3 liver fibrosis) should be organized as regular (every 6 months) liver ultrasound in combination with determination of the serum alpha-fetoprotein (AFP) level. At an AFP level of ≥ 20 ng/ml, even in the absence of changes according to ultrasound data, it is advisable to perform MRI with a hepatospecific contrast agent (gadoxetic acid) which makes it possible to detect very small focal liver lesions. If focal liver lesions of 1–2 cm are detected on ultrasound, additional imaging of the liver using MRI with a hepatospecific contrast agent gadoxetic acid helps to identify HCC at an earlier stage or high degree dysplastic nodes. When planning surgical treatment and liver transplantation, it is preferable to use MRI with a hepatospecific contrast agent, since the presence of the hepatobiliary phase may allow the detection of additional smaller focal liver lesions and assess the nature of the focal liver lesion. When a patient is included in the waiting list for liver transplantation, the optimal frequency of liver MRI is 1 time in 3 months.Conclusion. MRI with hepatospecific contrast agent gadoxetic acid is effective in screening, early diagnosis and treatment planning for HCC.
Аim:描述筛选和早期诊断肝细胞癌(HCC)的现代方法。要点。高危人群(任何病因肝硬化、慢性乙型病毒性肝炎和F3型肝纤维化)的HCC筛查应定期(每6个月)组织肝脏超声检查,并联合检测血清甲胎蛋白(AFP)水平。当AFP水平≥20 ng/ml时,即使根据超声数据没有变化,也建议使用肝特异性造影剂(gadoxetic酸)进行MRI,这可以检测到非常小的局灶性肝脏病变。如果超声检测到1-2厘米的局灶性肝脏病变,则使用肝特异性造影剂加多乙酸进行MRI检查,有助于识别早期HCC或高度发育不良淋巴结。当计划手术治疗和肝移植时,最好使用带有肝特异性造影剂的MRI,因为肝胆期的存在可以检测到其他较小的局灶性肝脏病变,并评估局灶性肝脏病变的性质。当患者被列入肝移植候诊名单时,肝脏MRI的最佳频率为3个月1次。MRI联合肝特异性造影剂加多己酸对肝癌的筛查、早期诊断和治疗规划具有重要意义。
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引用次数: 0
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