TY - JOUR A1 - Belinsky, Martin G. A1 - Rink, Lori A1 - Cai, Kathy Q. A1 - Capuzzi, Stephen J. A1 - Hoang, Yen A1 - Chien, Jeremy A1 - Godwin, Andrew K. A1 - von Mehren, Margaret T1 - Somatic loss of function mutations in neurofibromin 1 and MYC associated factor X genes identified by exome-wide sequencing in a wild-type GIST case JF - BMC Cancer N2 - Approximately 10–15 % of gastrointestinal stromal tumors (GISTs) lack gain of function mutations in the KIT and platelet-derived growth factor receptor alpha (PDGFRA) genes. An alternate mechanism of oncogenesis through loss of function of the succinate-dehydrogenase (SDH) enzyme complex has been identified for a subset of these “wild type” GISTs. KW - gastrointestinal stromal tumor (GIST) KW - wild type KW - KIT KW - PDGFRA KW - succinate dehydrogenase (SDH) KW - NF1 KW - MAX Y1 - 2015 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:526-opus4-6292 SN - 1471-2407 VL - 15 IS - 887 ER - TY - JOUR A1 - Munchel, Sarah A1 - Hoang, Yen A1 - Yue, Zhao A1 - Cottrell, Joseph A1 - Klotzle, Brandy A1 - Godwin, Andrew K. A1 - Koestler, Devin A1 - Beyerlein, Peter A1 - Fan, Jian-Bing A1 - Bibikova, Marina A1 - Chien, Jeremy T1 - Targeted or whole genome sequencing of formalin fixed tissue samples: potential applications in cancer genomics JF - Oncotarget N2 - Current genomic studies are limited by the poor availability of fresh-frozen tissue samples. Although formalin-fixed diagnostic samples are in abundance, they are seldom used in current genomic studies because of the concern of formalin-fixation artifacts. Better characterization of these artifacts will allow the use of archived clinical specimens in translational and clinical research studies. To provide a systematic analysis of formalin-fixation artifacts on Illumina sequencing, we generated 26 DNA sequencing data sets from 13 pairs of matched formalin-fixed paraffin-embedded (FFPE) and fresh-frozen (FF) tissue samples. The results indicate high rate of concordant calls between matched FF/FFPE pairs at reference and variant positions in three commonly used sequencing approaches (whole genome, whole exome, and targeted exon sequencing). Global mismatch rates and C·G > T·A substitutions were comparable between matched FF/FFPE samples, and discordant rates were low (<0.26%) in all samples. Finally, low-pass whole genome sequencing produces similar pattern of copy number alterations between FF/FFPE pairs. The results from our studies suggest the potential use of diagnostic FFPE samples for cancer genomic studies to characterize and catalog variations in cancer genomes. KW - cancer genomics KW - FFPE DNA KW - whole exome sequencing KW - whole genome sequencing KW - copy number alteration Y1 - 2015 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:526-opus4-6307 SN - 1949-2553 VL - 6 IS - 28 SP - 25943 EP - 25961 ER - TY - JOUR A1 - Radivoievych, Aleksandar A1 - Kolp, Benjamin A1 - Grebinyk, Sergii A1 - Prylutska, Svitlana A1 - Ritter, Uwe A1 - Zolk, Oliver A1 - Glökler, Jörn A1 - Frohme, Marcus A1 - Grebinyk, Anna T1 - Silent Death by Sound: C60 Fullerene Sonodynamic Treatment of Cancer Cells JF - International Journal of Molecular Sciences N2 - The acoustic pressure waves of ultrasound (US) not only penetrate biological tissues deeper than light, but they also generate light emission, termed sonoluminescence. This promoted the idea of its use as an alternative energy source for photosensitizer excitation. Pristine C60 fullerene (C60), an excellent photosensitizer, was explored in the frame of cancer sonodynamic therapy (SDT). For that purpose, we analyzed C60 effects on human cervix carcinoma HeLa cells in combination with a low-intensity US treatment. The time-dependent accumulation of C60 in HeLa cells reached its maximum at 24 h (800 ± 66 ng/106 cells). Half of extranuclear C60 is localized within mitochondria. The efficiency of the C60 nanostructure’s sonoexcitation with 1 MHz US was tested with cell-based assays. A significant proapoptotic sonotoxic effect of C60 was found for HeLa cells. C60′s ability to induce apoptosis of carcinoma cells after sonoexcitation with US provides a promising novel approach for cancer treatment. KW - ultrasound KW - C60 fullerene KW - sonodynamic therapy KW - HeLa cells KW - apoptosis Y1 - 2023 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:526-opus4-16877 SN - 1422-0067 VL - 24 IS - 2 PB - MDPI ER - TY - JOUR A1 - Alekseeva, Victoriia A1 - Nechyporenko, Alina A1 - Frohme, Marcus A1 - Gargin, Vitaliy A1 - Meniailov, Ievgen A1 - Chumachenko, Dmytro T1 - Intelligent Decision Support System for Differential Diagnosis of Chronic Odontogenic Rhinosinusitis Based on U-Net Segmentation JF - Electronics N2 - The share of chronic odontogenic rhinosinusitis is 40% among all chronic rhinosinusitis. Using automated information systems for differential diagnosis will improve the efficiency of decision-making by doctors in diagnosing chronic odontogenic rhinosinusitis. Therefore, this study aimed to develop an intelligent decision support system for the differential diagnosis of chronic odontogenic rhinosinusitis based on computer vision methods. A dataset was collected and processed, including 162 MSCT images. A deep learning model for image segmentation was developed. A 23 convolutional layer U-Net network architecture has been used for the segmentation of multi-spiral computed tomography (MSCT) data with odontogenic maxillary sinusitis. The proposed model is implemented in such a way that each pair of repeated 3 × 3 convolutions layers is followed by an Exponential Linear Unit instead of a Rectified Linear Unit as an activation function. The model showed an accuracy of 90.09%. To develop a decision support system, an intelligent chatbot allows the user to conduct an automated patient survey and collect patient examination data from several doctors of various profiles. The intelligent information system proposed in this study made it possible to combine an image processing model with a patient interview and examination data, improving physician decision-making efficiency in the differential diagnosis of Chronic Odontogenic Rhinosinusitis. The proposed solution is the first comprehensive solution in this area. KW - CT data KW - deep learning KW - image segmentation KW - U-Net KW - decision support system KW - chronic odontogenic rhinosinusitis KW - machine learning KW - artificial intelligence Y1 - 2023 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:526-opus4-17088 SN - 2079-9292 VL - 12 IS - 5 PB - MDPI ER - TY - JOUR A1 - Radivoievych, Aleksandar A1 - Schnepel, Sophia A1 - Prylutska, Svitlana A1 - Ritter, Uwe A1 - Zolk, Oliver A1 - Frohme, Marcus A1 - Grebinyk, Anna T1 - From 2D to 3D In Vitro World: Sonodynamically-Induced Prooxidant Proapoptotic Effects of C60-Berberine Nanocomplex on Cancer Cells JF - Cancers N2 - Recently, sonodynamic therapy (SDT) has emerged as a promising non-invasive approach for treating cancer by activating sensitizers with ultrasound (US). In this context, we investigated C60 fullerene (C60) as a nanocarrier for the promising drug Berberine (Ber)—both potential aromatic sonosensitizers. The preferential mitochondrial accumulation of C60 and the proapoptotic effects of Ber also make the C60-Berberine nanocomplex (C60-Ber) a good candidate for direct induction of the intrinsic apoptotic cell death under US action. The in vitro research on C60-Ber can provide insights into novel, non-invasive cancer treatments. These findings lead to the development of targeted therapies with reduced side effects, inspire interdisciplinary collaboration, and open new avenues for drug delivery and cancer therapy research. KW - berberine KW - C60 fullerene KW - apoptosis KW - sonodynamic therapy KW - ultrasound Y1 - 2024 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:526-opus4-19438 VL - 16 IS - 18 ER - TY - JOUR A1 - Nechyporenko, Alina A1 - Frohme, Marcus A1 - Strelchuk, Yaroslav A1 - Omelchenko, Vladyslav A1 - Gargin, Vitaliy A1 - Ishchenko, Liudmyla A1 - Alekseeva, Victoriia T1 - Galvanic Skin Response and Photoplethysmography for Stress Recognition Using Machine Learning and Wearable Sensors JF - Applied Sciences N2 - This study investigates stress recognition using galvanic skin response (GSR) and photoplethysmography (PPG) data and machine learning, with a new focus on air raid sirens as a stressor. It bridges laboratory and real-world conditions and highlights the reliability of wearable sensors in dynamic, high-stress environments such as war and conflict zones. The study involves 37 participants (20 men, 17 women), aged 20–30, who had not previously heard an air raid siren. A 70 dB “S-40 electric siren” (400–450 Hz) was delivered via headphones. The protocol included a 5 min resting period, followed by 3 min “no-stress” phase, followed by 3 min “stress” phase, and finally a 3 min recovery phase. GSR and PPG signals were recorded using Shimmer 3 GSR+ sensors on the fingers and earlobes. A single session was conducted to avoid sensitization. The workflow includes signal preprocessing to remove artifacts, feature extraction, feature selection, and application of different machine learning models to classify the “stress “and “no-stress” states. As a result, the best classification performance was shown by the k-Nearest Neighbors model, achieving 0.833 accuracy. This was achieved by using a particular combination of heart rate variability (HRV) and GSR features, which can be considered as new indicators of siren-induced stress. KW - galvanic skin response KW - machine learning KW - photoplethysmography KW - stress Y1 - 2024 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:526-opus4-19803 VL - 14 IS - 24 PB - MDPI ER - TY - CHAP A1 - Nechyporenko, Alina A1 - Reshetnik, Viktor A1 - Frohme, Marcus A1 - Alekseeva, Victoriia A1 - Lupyr, Andrii A1 - Gargin, Vitaliy ED - Chumachenko, Dmytro ED - Golland, Polina ED - Yakovlev, Sergiy T1 - Evaluation of Bone Radiodensity in Smokers T2 - Proceedings of the 4th International Workshop of IT-professionals on Artificial Intelligence (ProfIT AI 2024) 2024, Cambridge, MA, USA, September 25-27, 2024 N2 - One of the most prevalent harmful habits that affect people daily is smoking. The aim of our study was to investigate changes in the bone density of the human paranasal sinuses under the influence of smoking using uncertainty calculation. Material and Methods. The study involved 150 male and female individuals aged 20-40 years, which helps to exclude other factors that could influence the reduction in bone radiodensity (e.g., menopause in women, age-related changes, etc.). The participants were divided into three groups based on the duration of their smoking habits. Results. Smoking has almost no effect on the maximum bone density. All groups show nearly identical values. In the first group, consisting of individuals who smoked for up to 5 years, the maximum density is 75.22 ± 37.61 Hu. In the second group, those who smoked for up to 10 years have a density of 84.22 ± 42.11 Hu, while in the third control group, the density is 74.29 ± 37.15 Hu. On the other hand, smoking has a greater impact on the minimum radiological bone density of the upper wall of the maxillary sinus. The lowest values are found in the group of individuals who smoked for 10 or more years, with a minimum density of 23.86 ± 11.93 Hu. For those who smoked for up to 5 years, the radiological bone density was 52.65 ± 26.32 Hu. In the control group, the density values were slightly higher than those of individuals who smoked for up to 5 years, with the highest values being 58.12 ± 29.06 Hu. Conclusion. The study investigated changes in the bone density of the human paranasal sinuses under the influence of smoking, utilizing uncertainty calculation. It was found that the most sensitive indicator to nicotine exposure is the minimum radiological density, which can significantly increase the risk of developing complications. Specifically, the lowest radiological density was observed in the group of individuals who smoked for 10 years or more, with a value of 23.86 ± 11.93 Hu. KW - bone radiodensity KW - computer tomography KW - paranasal sinus KW - uncertainty Y1 - 2024 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:526-opus4-19616 UR - https://ceur-ws.org/Vol-3777/short8.pdf IS - 3777 SP - 238 EP - 244 ER - TY - CHAP A1 - Reshetnik, Viktor A1 - Muryzina, Irina A1 - Frohme, Marcus A1 - Alekseeva, Victoriia A1 - Dzyza, Alla A1 - Nechyporenko, Alina ED - Chumachenko, Dmytro ED - Golland, Polina ED - Yakovlev, Sergiy T1 - Uncertainty Estimation Method for Determining Bone Density in Patients with Infiltrating Intraductal Carcinoma Undergoing Anti-Cancer Therapy T2 - Proceedings of the 4th International Workshop of IT-professionals on Artificial Intelligence (ProfIT AI 2024) 2024, Cambridge, MA, USA, September 25-27, 2024 N2 - Identification of a bone density is crucial in all branches of medicine. Assessing bone density is a labor-intensive process. Bone density is quite unstable and depends on many factors, both physiological (aging, hormonal balance) and pathological (medication use, various underlying conditions). The aim of our study is to determine bone density in patients with malignant breast tumors undergoing anti-cancer therapy. Material and Methods. The study included 50 women aged 60-70 years who were diagnosed with infiltrating intraductal carcinoma. According to established protocols, MSCT is recommended for this category of women at intervals of once every six months. The first MSCT scan was performed immediately after the diagnosis was made, before the start of treatment, and the second scan was conducted six months later. Results. The maximum radiological density was 75.8954±37.9477 Hu in the group of women who had been receiving treatment for six months, compared to 93.9388±46.9694 Hu in the group of patients who did not take the drug. Meanwhile, the minimum density showed a slight increase from 29.7295±14.8647 Hu to 38.6919±19.3460 Hu, which can be attributed to the compensatory mechanisms of the body. Conclusions. In the course of this study, bone density in patients with infiltrating intraductal carcinoma undergoing anti-cancer therapy was determined using uncertainty estimation. It was found that after six months, the first to respond to changes in density was the maximum bone density. KW - infiltrarive intraductal adenocarcinoma KW - multislice computer tomography KW - radiological bone density Y1 - 2024 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:526-opus4-19628 UR - https://ceur-ws.org/Vol-3777/short6.pdf IS - 3777 SP - 222 EP - 228 ER - TY - CHAP A1 - Rykova, Eugenia A1 - Walther, Mathias ED - of Hawai’i at Manoa, University T1 - AphaDIGITAL – Digital Speech Therapy Solution for Aphasia Patients with Automatic Feedback Provided by a Virtual Assistant T2 - Proceedings of the 57th Hawaii International Conference on System Sciences N2 - This paper introduces aphaDIGITAL – a mobile application for speech and language therapy (SLT) support of German-speaking people with aphasia. The app includes automatic speech recognition and text analysis components, which allows giving detailed feedback to the users on different types of errors. Furthermore, the exercises are accompanied by an avatar-based SLT assistant, which is created for this specific purpose. The user performs the exercises, individually configured for her by the SLT practitioner, on a mobile device. Data collection and processing are carried out on the server. KW - automatic speech recognition KW - digital health KW - embodied conversational agent KW - language technology KW - speech and language therapy Y1 - 2024 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:526-opus4-19453 SN - 978-0-9981331-7-1 SP - 3385 EP - 3394 ER - TY - CHAP A1 - Strelchuk, Yaroslav A1 - Nechyporenko, Alina A1 - Frohme, Marcus A1 - Gargin, Vitaliy A1 - Lupyr, Andrii A1 - Alekseeva, Victoriia ED - Shakhovska, Nataliya ED - Jiao, Jianbo ED - Izonin, Ivan ED - Chretien, Stephane T1 - Detection of stress using photoplethysmography T2 - Proceedings of the 7th International Conference on Informatics & Data-Driven Medicine (IDDM 2024) N2 - Stress is an important factor affecting human health, and its timely detection can significantly improve quality of life. This study addresses the current issue of identifying stress states using photoplethysmography signals obtained from the wearable Shimmer 3 sensor. The purpose of the study was to establish an effective approach for stress detection, specifically through the analysis of heart rate variability changes during different states: rest and stress. A distinctive feature of the research is the use of the air raid siren sound as a stress factor. The research methodology includes the collection and analysis of biosignals, allowing for the assessment of cardiovascular system functioning under the impact of stress factors. The results of the study demonstrated significant differences in heart rhythm indicators depending on the person's state, highlighting the potential of these metrics as a tool for health monitoring and stress detection. The paper proposes a new approach to using photoplethysmography for assessing stress responses, which may contribute to the development of personalized stress management methods. KW - air raid signal KW - cardiovascular system health KW - early stress detection KW - health monitoring KW - heart rate variability KW - personalized stress management KW - photoplethysmography KW - stress KW - wearable sensors Y1 - 2024 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:526-opus4-19896 UR - https://ceur-ws.org/Vol-3892/short3.pdf VL - 3892 SP - 196 EP - 202 PB - RWTH Aachen ER - TY - CHAP A1 - Nechyporenko, Alina A1 - Frohme, Marcus A1 - Omelchenko, Vladyslav A1 - Alekseeva, Victoriia A1 - Lupyr, Andrii A1 - Gargin, Vitaliy ED - Shakhovska, Nataliya ED - Kovác, Michal ED - Izonin, Ivan ED - Chrétien, Stéphane T1 - Identification of Personality Based on the Sphenoid Sinus Structure Using Machine Learning T2 - Proceedings of the 6th International Conference on Informatics & Data-Driven Medicine, Bratislava, Slovakia, November 17-19, 2023 N2 - The aim of our study is to develop a new, simple, and effective method for identification of personality based on the characteristics of the sphenoid sinus structure, using machine learning for subsequent implementation into routine medical practice in Ukraine. The study involved 200 multislice computed tomography (MSCT) scans of individuals of various genders and ages. During the study, we obtained results with an accuracy exceeding 70%. KW - identification of personality KW - multislice computed tomography KW - deep learning Y1 - 2023 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:0074-3609-1 UR - https://ceur-ws.org/Vol-3609/short2.pdf VL - 3609 SP - 167 EP - 173 PB - CEUR-WS.org ER -