Medical research archives最新文献

{"title":"Pulse Rate Variability Analysis During Hemorrhage in an Experimental Porcine Model.","authors":"Gabriel P Bonvillain, Lauren D Crimmins-Pierce, Md Abul Hayat, Adria Abella Villafranca, Sam E Stephens, Luke E Ferguson, Hanna K Jensen, Joseph A Sanford, Jingxian Wu, Kevin W Sexton, Morten O Jensen","doi":"10.18103/mra.v13i6.6703","DOIUrl":"10.18103/mra.v13i6.6703","url":null,"abstract":"<p><strong>Background: </strong>The initial response to hemorrhage is mediated by the autonomic nervous system. A method for detecting autonomic nervous system activity may provide the ability to detect acute changes in blood volume. Previous work has indicated that heart rate variability may be able to detect acute hemorrhage in a porcine model. This study evaluates the ability of pulse rate variability, used as a surrogate for heart rate variability, and obtained from peripheral arterial pressure waveforms, to detect hemorrhage in a porcine model.</p><p><strong>Methods: </strong>Using a model consisting of four subjects, peripheral arterial pressure waveforms were collected over 15-minute intervals before, during, and after hemorrhage. Percent changes for pulse rate variability metrics were evaluated for the 15-minute signals. These longer signals were subsequently divided into three 5-minute signals for short term pulse rate variability analysis. A One-Way Analysis of Variance with a significance level of 0.05 was used to evaluate the sensitivity of pulse rate variability metrics for detecting hemorrhage.</p><p><strong>Results: </strong>At the onset of hemorrhage, an increase in standard deviation, root mean squared error, low frequency power, high frequency power, total power, and the ratio of low to high frequency power was observed, followed by an opposing decrease at the conclusion of hemorrhage. The low frequency power and the ratio of low to high frequency power had the greatest sensitivity to detecting changes in hemorrhage levels.</p><p><strong>Conclusion: </strong>These results suggest that pulse rate variability metrics obtained from arterial pressure waveforms have the potential to serve as a diagnostic method for acute hemorrhage.</p>","PeriodicalId":94137,"journal":{"name":"Medical research archives","volume":"13 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12571234/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145410967","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"REVIEW AND RECOMMENDATIONS FOR HEALTH INFORMATICS IN SUB-SAHARAN AFRICAN COUNTRIES: BETWEEN OPPORTUNITIES AND CHALLENGES.","authors":"Olayemi Michael Lawanson, Daniel Berleant, Oluwatomiwa Ajiferuke","doi":"10.18103/mra.v13i5.6554","DOIUrl":"10.18103/mra.v13i5.6554","url":null,"abstract":"<p><strong>Background: </strong>There is a wide-reaching consensus that health should be a priority in national development plans. This is why the Sustainable Development Goal (SDG) 3 is aimed at securing good health for all. If the SDG 3 is to be a reality, there is a need to consider alternatives to the present traditional health system in sub-Saharan African countries. The implementation of health informatics, which is currently the focus of attention in the health sector, presents a huge opportunity with the potential to revolutionize the health systems of developing nations, particularly those in sub-Saharan Africa. In addition to reducing child mortality and infant death rates, providing high-quality healthcare in the region will help combat the challenges posed by preventable diseases and premature deaths that affect many sub-Saharan countries. Ensuring the quality of healthcare also depends on improving information quality, as accurate, timely, and reliable data are essential for effective decision-making and patient care. If the Sustainable Development Goals (SDG) is to be achieved, this issue must be addressed.</p><p><strong>Methods: </strong>This study reviews research on health information systems in sub-Saharan Africa. The search used medical databases (PubMed and Scopus) and found articles with keywords like \"health,\" \"information,\" \"Africa,\" and \"informatics.\" It also focused on both benefits and challenges of digital health systems in sub-Saharan Africa. The articles were categorized into health information's potential benefits, its application, and barriers and opportunities to set up these systems. This review summarizes the current state of health technology in sub-Saharan Africa, identifies key trends and research gaps, and provides useful insights for health workers, governments, and NGOs.</p><p><strong>Results: </strong>Studies show that health informatics implementation in sub-Saharan Africa is still far behind where it should be. This analysis uncovers challenges in the deployment of health informatics into the health sector. It identifies infrastructure as well as other limitations and how they can be overcome to help enable the realization of quality healthcare in the region. This will improve the quality of healthcare information, helping to facilitate effective healthcare delivery. Documenting the insufficient current status of healthcare informatics in the health sectors of SSA countries' health systems helps to highlight the potential contribution that informatics can make to health care in the region.</p><p><strong>Conclusion: </strong>The findings help provide a baseline of current knowledge to support efforts to implement health informatics in sub-Saharan Africa.</p>","PeriodicalId":94137,"journal":{"name":"Medical research archives","volume":"13 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12165249/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144304141","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Saying YES to Careers in Cancer Research: A Collaborative Model for Evaluating and Improving a Cancer Education and Research Program.","authors":"James A Render, Ever Mkonyi, Ashley Langford, Kelli Qua, Damian J Junk","doi":"10.18103/mra.v13i4.6432","DOIUrl":"10.18103/mra.v13i4.6432","url":null,"abstract":"<p><p>The Case Comprehensive Cancer Center's Youth Enjoy Science (YES) Program is funded by the National Cancer Institute to promote broad interest in pursuing a career in biomedical research via early intervention strategies that inspire student interest, help envision research as a career path, and strengthen practical research and career skills. A major aspect of the YES program is an 8-week immersion into cancer center faculty laboratories to conduct a cancer research project over the summer. The overall goal is to excite students to consider a future career in biomedical research or healthcare to enhance the future cancer-focused workforce. To ensure the YES program is meeting its goals and providing an exceptional experience for students, an external evaluation team performs an annual evaluation that incorporates a mixed methods approach combining mechanisms for formal and informal feedback. The team shares key insights with program leadership, faculty, and student representatives to ensure that all feedback directly informs program adjustments. This approach emphasizes actionable results rather than passive data collection, reinforcing the program's commitment to continuous quality improvement. Formal surveys suggest the program has been consistently meeting its goals of increasing student understanding of cancer biology and research. However, a recent reduction in survey response rates makes it challenging to determine whether survey respondents are primarily those with the most positive experiences. Integrating both formal and informal feedback mechanisms in program evaluation is essential for capturing the full range of student experiences. Thus, it is critical that training programs provide a channel for informal discussions. The YES program coordinator maintains close relationships with all stakeholders and is deeply familiar with student participants, from the application process to ongoing program activities. As an approachable and engaged leader, the coordinator effectively gathers feedback and implements changes to enhance program performance. In response to formal and informal feedback, the YES program curriculum has been modified to enhance not only student and mentor experiences but also the process for soliciting feedback in the future.</p>","PeriodicalId":94137,"journal":{"name":"Medical research archives","volume":"13 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12442571/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145088712","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tomatidine Attenuates Inflammatory Responses to Exercise-Like Stimulation in Donor-derived Skeletal Muscle Myobundles.","authors":"Maddalena Parafati, Tushar Sanjay Shenoy, Zon Thwin, Mauro Parlavecchio, Siobhan Malany","doi":"10.18103/mra.v13i4.6423","DOIUrl":"10.18103/mra.v13i4.6423","url":null,"abstract":"<p><p>Donor-derived myotubes offer a pre-clinical model for studying muscle biology, the effects of exercise-like electrical stimulation, and assessing drug efficacy and toxicity. We engineered a 3D muscle microphysiological system from myoblasts isolated from vastus lateralis of young and older adults. Over a three-week differentiation process, we applied two cycles of low frequency electrical stimulation daily for seven days generating functional, mature myobundles, as confirmed by gene expression profiling. Both young- and old-derived myobundles showed synchronous contraction in response to electrical stimulation, however, the contraction magnitude was reduced in old-derived myobundles compared to young-derived myobundles. We then assessed the donor-specific response to tomatidine, a steroidal alkaloid found in the skin of green tomatoes, known to inhibit muscle atrophy and promote skeletal muscle hypertrophy. Bioinformatic analyses revealed that infusion of tomatidine during electrical stimulation modulated the IL-6/JAK/STAT3 pathway. The contraction magnitude decreased in the young-derived myobundles treated with tomatidine compared to vehicle-treated controls, while no significant difference was observed in the old-derived myobundles. Secretome analysis revealed age-related changes in secreted proteins linked to inflammation and extracellular matrix remodeling. Notably, tomatidine attenuates the inflammatory and extracellular matrix remodeling responses in the myobundles triggered by electrical stimulation, partially preventing the secretion of proinflammatory proteins. This intervention strategy helps balance muscle adaptation and repair, while limiting excessive proinflammatory responses. Our microphysiological system provides a valuable platform for investigating signaling pathways involved in muscle function, and pharmacological responses, advancing the understanding of age-related muscle biology.</p>","PeriodicalId":94137,"journal":{"name":"Medical research archives","volume":"13 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12360297/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144884685","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Strategies and Considerations for Safe Reinforcement Learning in Programming Cardiac Implantable Electronic Devices.","authors":"John Komp, Aaptha Boggaram, David P Kao, Ashutosh Trivedi, Michael A Rosenberg","doi":"10.18103/mra.v13i3.6363","DOIUrl":"https://doi.org/10.18103/mra.v13i3.6363","url":null,"abstract":"<p><p>The programming of cardiac implantable electronic devices, such as pacemakers and implantable defibrillators, represents a promising domain for the application of automated learning systems. These systems, leveraging a type of artificial intelligence called reinforcement learning, have the potential to personalize medical treatment by adapting device settings based on an individual's physiological responses. At the core of these self-learning algorithms is the principle of balancing exploration and exploitation. Exploitation refers to the selection of device programming settings previously demonstrated to provide clinical benefit, while exploration refers to the real-time search for adjustments to device programming that could provide an improvement in clinical outcomes for each individual. Exploration is a critical component of the reinforcement learning algorithm, and provides the opportunity to identify settings that could directly benefit individual patients. However, unconstrained exploration poses risks, as an automated change in certain settings may lead to adverse clinical outcomes. To mitigate these risks, several strategies have been proposed to ensure that algorithm-driven programming changes achieve the desired level of individualized optimization without compromising patient safety. In this review, we examine the existing literature on safe reinforcement learning algorithms in automated systems and discuss their potential application to the programming of cardiac implantable electronic devices.</p>","PeriodicalId":94137,"journal":{"name":"Medical research archives","volume":"13 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12040070/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144002248","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Case Report: 19-Year-Old Hispanic Young Woman with Early-Stage Breast Cancer and a Germline Pathogenic Variant.","authors":"Tarsha Jones, Alice Zhang, Katherine Freeman","doi":"10.18103/mra.v13i2.6293","DOIUrl":"10.18103/mra.v13i2.6293","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Breast cancer (BC) is the most common cancer diagnosed in women globally and the leading cause of cancer-related deaths among younger women diagnosed between the ages of 20-49 years in the United States (US). Although the median age of BC diagnosis is 62 years overall, recent data show that early-onset BC is on the rise in young people. Black and Hispanic women are disproportionately affected by BC, often diagnosed at a younger age, and BC is the leading cause of cancer-related deaths for both groups of women. The aim of this report is to present the unique case of a young adult Hispanic woman diagnosed with early-stage BC. Younger women with BC face unique biological and psychosocial challenges compared to older post-menopausal women. Additionally, young breast cancer survivors (YBCS) are at an increased risk of BC recurrence. Therefore, there is a critical need to develop interventions that are tailored to the cultural and age-specific needs of racial and ethnic minority women to promote cancer risk-reduction and to improve health outcomes.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Method case report: &lt;/strong&gt;We present the case of a 19-year-old Hispanic female with no family history of breast cancer (BC), who was diagnosed with ductal carcinoma in situ (DCIS). Initially diagnosed in 2018, she received treatment at a comprehensive cancer center. At the time of diagnosis, she completed multigene panel testing to identify hereditary cancer risk. The testing revealed a pathogenic variant in the &lt;i&gt;PTEN&lt;/i&gt; gene. The patient underwent a bilateral mastectomy as part of her treatment plan due to her high-risk status. Five years post-diagnosis, in 2023 she joined our NIH-funded research study focused on investigating the experiences and needs of young breast cancer survivors (YBCS) from diverse racial and ethnic backgrounds.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;Women are being diagnosed with BC at increasingly younger ages. This case underscores the need to increase awareness about risk factors among diverse younger women and highlights the critical role of genetic testing in identifying hereditary breast and ovarian cancer (HBOC) syndrome and using that knowledge for informed decision-making. This is especially important for racial and ethnic minority women who suffer disproportionately from BC outcomes. Furthermore, it emphasizes the importance of a holistic approach to care, grounded in caring science, which prioritizes the well-being of the whole person. Nurses, in collaboration with other healthcare providers, are in a unique position to positively impact the lives of young breast cancer patients, survivors, and those at high-risk for developing the disease. By advocating for early detection, tailored age-appropriate interventions, and comprehensive support, nurses can significantly improve health outcomes and empower young women to live longer, healthier lives. Future research should investigate the complex interaction between biological, psy","PeriodicalId":94137,"journal":{"name":"Medical research archives","volume":"13 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12123653/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144201196","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Obstructive Sleep Apnea in Children and Adolescents with Down Syndrome: A Clinical Study","authors":"Lorena Favaro, Marllon Cunha, Pedro Costa, Lídia Raquel de Carvalho, Debora Avellaneda Penatti, Silke Weber, Cátia Regina Branco da Fonseca","doi":"10.18103/mra.v13i2.6336","DOIUrl":"https://doi.org/10.18103/mra.v13i2.6336","url":null,"abstract":"Objectives: To assess the prevalence of obstructive sleep apnea in children and adolescents with Down syndrome followed up in an outpatient clinic in a university hospital and to identify which factors are related to the disease and its severity. Methods: A total of 35 patients with Down syndrome were included in this cross-sectional study after being invited to undergo polysomnography and applying structured and standardized questionnaires, between March 2021 and June 2022, with data description by mean ± standard deviation for continuous variables and frequency and percentage in categorical, being considered significant p ≤ 0.05. Results: The selected sample consists of 57.1% girls, with mean age and body mass index z-score, respectively, 87.5 months (± 45.5) and 0.6 (± 1.3). Obstructive sleep apnea was diagnosed in 96.3% of cases, with a mean apnea and hypopnea rate of 11.3 events per hour (± 12.5) and moderate or severe disease in more than half of the population (59.2%). The severity of the condition was significantly associated with parental report of habitual snoring (p 0.002) and excessive daytime sleepiness according to the modified Epworth scale (p 0.001). Patients diagnosed with obstructive sleep apnea were referred for otorhinolaryngological follow-up. Conclusion: The results show the high prevalence of obstructive sleep apnea in this population, as well as the association between report of snoring and daytime sleepiness with the severity of the disease, which demonstrates the applicability of screening tools and reinforces the importance diagnosis to improve the follow-up of these patients.","PeriodicalId":94137,"journal":{"name":"Medical research archives","volume":"13 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://esmed.org/MRA/mra/article/download/6336/99193548947","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147889346","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Case Report: Amyotrophic Lateral Sclerosis Treatment with Extracellular Vesicles derived from Mesenchymal Stromal Cells","authors":"Paul Dreschnack, Ina Dreschnack, Robert Bard","doi":"10.18103/mra.v13i9.6930","DOIUrl":"https://doi.org/10.18103/mra.v13i9.6930","url":null,"abstract":"Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder marked by motor neuron loss, resulting in muscle weakness, respiratory failure, and death. Current treatment options offer limited survival benefit, highlighting the urgent need for novel therapeutic strategies. Extracellular vesicles (EVs), particularly those derived from human bone marrow, have shown promise in preclinical models due to their anti-inflammatory and neuroprotective properties. We report the case of an 81-year-old male with a two-year history of ALS who received a novel investigational therapy consisting of intravenous infusions of human bone marrow-derived EVs. At baseline, the patient exhibited bulbar and respiratory involvement, as well as progressive weakness in the upper and lower extremities, and significant impairment in activities of daily living. Pulmonary function testing revealed a forced vital capacity (FVC) of 52% predicted, and the patient relied on non-invasive ventilation for up to 9 hours nightly. The treatment was well-tolerated with no adverse events reported. Clinical monitoring showed stabilization of respiratory function, maintained ambulatory ability for short distances, and no further significant decline in bulbar or limb strength over the treatment period. Subjective improvements were noted in energy levels, mood, and overall quality of life, though these outcomes require further investigation in controlled studies.","PeriodicalId":94137,"journal":{"name":"Medical research archives","volume":"13 9","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://esmed.org/MRA/mra/article/download/6930/99193549604","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147892071","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Patient-centered Assessment of the Efficacy and Safety of Vildagliptin Sustained-release Tablet (100 mg) Relative to Sitagliptin (100 mg) in Patients with Type 2 Diabetes Mellitus Inadequately Controlled on MEtformin (PRIME-Vilda Trial)","authors":"Abdul Hamid Zargar, Sunil Gupta, Balaji Jaganmohan, Sona Warrier","doi":"10.18103/mra.v13i5.6599","DOIUrl":"https://doi.org/10.18103/mra.v13i5.6599","url":null,"abstract":"Dipeptidyl peptidase-4 inhibitors (DPP4Is) were introduced for the management of type 2 diabetes mellitus (T2DM) due to their insulinotropic effects, lack of inherent hypoglycemia risk, and neutral impact on body weight. Vildagliptin is a dipeptidyl peptidase-4 inhibitor that improves glycemic control by increasing the incretin levels and prolonging the effect of glucagon-like peptide 1 (GLP- 1). Due to its unique mechanism of action for glycemic control and its advantages, DPP-4 inhibitors have been widely used alone in monotherapy or combined with metformin. The present study aimed to evaluate the efficacy and safety of Vildagliptin 100 mg sustained release tablet once daily (SR tablet OD) compared to Sitagliptin 100 mg tablet in patients with Type 2 diabetes mellitus not optimally controlled on Metformin alone. A total of three sites were involved in the enrollment of 128 Type 2 diabetes mellitus patients, with 64 patients in each treatment arm. 50 patients were selected to monitor the average blood glucose levels by continuous glucose monitoring system (CGMS) measurements in a subset of population with 25 patients in each treatment arm. Eligible patients were randomly assigned to receive (orally) Vildagliptin sustained release tablets 100 mg or Sitagliptin tablets IP 100 mg with metformin once daily for 84 days. The reduction in HbA1c, fasting blood glucose (FBG) levels, postprandial blood glucose (PPBG) levels and the average glucose values measured using the Continuous Glucose Monitoring system (CGMS) from baseline to the end of treatment (Day 84±3) were found to be -0.22%, -1.43 mg/dL, 2.55 mg/dL, and -19.14 mg/dL respectively indicating that Vildagliptin 100 mg Sustained Release Tablet administered once daily in patients with Type 2 diabetes mellitus who are not optimally controlled on metformin alone is beneficial for better patient compliance towards effective glycemic control while reducing the frequency of dosing.","PeriodicalId":94137,"journal":{"name":"Medical research archives","volume":"13 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://esmed.org/MRA/mra/article/download/6599/99193549224","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147911947","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The role of genome composition and activation in shaping the translocation landscape in health and disease.","authors":"Anna Oncins, Jessica Velten, Renée Beekman","doi":"10.18103/mra.v12i12.6212","DOIUrl":"10.18103/mra.v12i12.6212","url":null,"abstract":"<p><p>Translocations are rearrangements produced upon erroneous repair of double-strand breaks, fusing segments of non-homologous chromosomes. These events can cause chimeric protein expression and other transcriptional alterations, eventually driving oncogenic transformation. Despite their significance, the factors shaping the heterogeneous translocation landscape in healthy individuals and cancer patients remain incompletely understood. In this review, we focus on genomic content and activation as two fundamental factors associated with translocation formation and selection. While emphasizing the critical role of double-strand breaks and interchromosomal contacts in translocation formation, we discuss that selective advantage is likely the main driver shaping translocation landscapes in health and disease. Finally, we address that it remains difficult to disentangle the effect of translocation formation from the influence of selective pressure, and point out that unraveling their separate contribution in future studies will be key to better understand early tumorigenesis.</p>","PeriodicalId":94137,"journal":{"name":"Medical research archives","volume":"12 12","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7618143/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145115781","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}