An application of eye movement parameters collected from mass market devices for the estimation of a text comprehension

The growing interest in evaluating the reader's comprehension leads to the search for new methods that allow such estimation in real-time (or pseudo-real-time). This can be used for more effective educational processes and to adopt textual content for various purposes. The present study used the Oken Reader eye-tracking application (60 Hz) for mass-market devices to assess reading comprehension processes. Twenty-three (23) respondents aged between 19 and 31 (mean = 24. 5, SE = 1. 4, 65% female) participated in the study. The mean, mu, and sigma parameters differed significantly depending on the level of text comprehension. This result indicates the possibility of using mass-market devices with eye-tracking technology to assess comprehension in reading. Furthermore, the study's results confirm the possibility of searching the correlations between physiological indicators such as eye movements and comprehension

Large Rearrangements in Genes Responsible for Familial Adenomatous Polyposis, <i>MUTYH</i>-Associated Polyposis and Peutz–Jeghers Syndrome in Russian Patients

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

The course and clinical manifestations of Peutz–Jeghers syndrome in the Russian population

Background. PeutzJeghers syndrome (PJS) is a rare hereditary syndrome characterized by the growth of hamartomatous polyps in the gastrointestinal tract, perioral pigmentation and an increased risk of malignant neoplasms. The syndrome is caused by a pathogenic variant in the STK11 gene. Aim. To assess the clinical picture and treatment of Russian patients with PJS. Materials and methods. A retrospective analysis of 30 patients from 25 families with an established diagnosis of PJS who were in the Ryzikh State Scientific Center for Coloproctology from 2011 to 2021 was carried out. All patients underwent instrumental examination, including esophagogastroduodenoscopy, colonoscopy, X-ray examination of the small intestine/CT-enterography, in the absence of invaginates video capsule endoscopy, as well as molecular genetic examination for the presence of pathogenic variants in the STK11 gene. All removed polyps were subjected to the histological examination. Results. The analysis of the clinical picture allowed us to establish the following data: the first complaints in patients were noted in childhood and adolescence, while the median age was 11 [7; 19] (0.524) years; pathogenic variants in the STK11 gene were identified in 26 (87%) cases, among which 10 were described for the first time; during the initial examination, polyps in the small intestine were detected in all 30 (100%) patients, in the stomach in 23/30 (77%) patients, and in the colon in 21/30 (70%); with an age, an increase in the number of polyps in all parts of the gastrointestinal tract was noted; before the diagnosis operations were performed urgently for intestinal obstruction; after the diagnosis of PJS, when polyps were detected in the gastrointestinal tract, endoscopic polypectomies were performed; if endoscopic removal of hamartomatous polyps was impossible, patients were operated as planned; malignant diseases of the predominantly reproductive system were detected in 8/30 (27%) patients. The median age of cancer detection was 52 [31; 52] (1759) years. Conclusion. Russian patients with PJS have population-specific features in the clinical picture of the course of the disease, which dictates the need to develop their own recommendations for monitoring and treatment of such patients

Особенности КТ-семиотики АКТГ-продуцирующей нейроэндокринной опухоли легкого

The purpose of the study is to improve the accuracy of CT diagnostics of pulmonary ACTH-Secreting Tumor.Material and methods. During the period from 2010 to 2022 at the Endocrinology Research Centre and the National Medical Research Center of Surgery named after A. Vishnevsky of the Ministry of Health of Russia 23 patients with pulmonary ACTH-Secreting Tumor were examined and treated. CT-features were analyzed: localization, shape, contours, connection of the formation with the bronchus, connection of the formation with the vessel, adherence to the vessel and bronchus along the long axis, structure of the neoplasm. We also analyzed the largest size of the formation, the size of the largest regional lymph node, the density of the tumor on axial sections in the native, arterial, venous and delayed phases of the study.Results. In the study, we identified a new phenotypic CT sign – the relationship with the bronchovascular bundle. The connection with the bronchus and vessel was assessed in detail. In the majority of patients, the connection with the pulmonary vessels (in most cases with small bronchial arteries) was especially clearly noted: an intimate attachment of the tumor along its long axis to the vessel. Less often it was possible to trace the connection with the bronchus.Conclusion. ACTH-producing NET of the lung is most often a peripherally located oval-shaped formation with even/ lobulated contours, adjacent to the bronchovascular bundle along the long axis of the tumor, intensively enchancing (increase of density parameters by more than 40 HU compared with the unenhanced phase) in the venous, less often the arterial phase of bolus contrast enhancement.Цель исследования: повысить точность КТ-диагностики нейроэндокринной опухоли (НЭО) бронхолегочной локализации, продуцирующей АКТГ.Материал и методы. В период с 2010 по 2022 г. в Национальном медицинском исследовательском центре эндокринологии и Национальном медицинском исследовательском центре хирургии им. А.В. Вишневского проводилось обследование и лечение 23 пациентов c АКТГ-эктопическим синдромом, имеющих нейроэндокринные образования легких. Анализировались качественные показатели: локализация, форма, контуры, связь образования с бронхом, связь образования с сосудом, прилежание к сосуду и бронху по длинной оси, структура новообразования. Также анализировали наибольший размер образования, размер наиболее крупного регионарного лимфатического узла, плотность опухоли на аксиальных срезах в нативную, артериальную, венозную и отсроченную фазы исследования.Результаты. В исследовании нам удалось выявить новый фенотипический КТ-признак – взаимосвязь с бронхососудистым пучком. Детально оценивали связь с бронхом и сосудом. У большинства пациентов особенно четко отмечали связь с легочными сосудами (в большинстве наблюдений с мелкими бронхиальными артериями) в виде интимного прилежания опухоли вдоль длинной ее оси к сосуду. Реже можно было проследить связь с бронхом.Заключение. НЭО легкого, продуцирующая АКТГ, представляет собой чаще всего периферически расположенное образование овальной формы с ровными/неровными контурами, прилежащее к бронхососудистому пучку по длинной оси опухоли, интенсивно накапливающее (повышение плотностных показателей более 40 ед.Н по сравнению с нативной фазой) контрастный препарат в венозную, реже артериальную фазу болюсного контрастного усиления