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The Implementation of a Perioperative Registry in a Resource-Limited Setting: A Feasibility, Fidelity, and Acceptance Study. 资源有限条件下围手术期注册的实施:可行性、保真度和可接受性研究。
Medical research archives Pub Date : 2025-06-01 Epub Date: 2025-06-30 DOI: 10.18103/mra.v13i6.6574
Joshua D Gazzetta, Poster P Mutambo, Mutimba B Mpabalwani, Mwamba Jc Mulenga, Cyrus Phiri, Kelvin Shaba, Emmanuel M Makasa
{"title":"The Implementation of a Perioperative Registry in a Resource-Limited Setting: A Feasibility, Fidelity, and Acceptance Study.","authors":"Joshua D Gazzetta, Poster P Mutambo, Mutimba B Mpabalwani, Mwamba Jc Mulenga, Cyrus Phiri, Kelvin Shaba, Emmanuel M Makasa","doi":"10.18103/mra.v13i6.6574","DOIUrl":"10.18103/mra.v13i6.6574","url":null,"abstract":"<p><strong>Background: </strong>In low and middle-income countries, nine out of every ten persons is unable to access safe and timely surgery. The limited perioperative data in resource-limited settings compromises surgical and research capacity growth. By increasing data availability, surgical disparities may be addressed through research efforts and quality initiatives. This project aimed to implement and evaluate a perioperative registry in a tertiary care hospital in a low-income country.</p><p><strong>Methods: </strong>A prospective emergency laparotomy perioperative registry was implemented in Zambia's largest teaching and referral hospital. Over the first 6-months of implementation, 162 patients were included. Data was collected postoperatively, before discharge, and at 30 days. The registries feasibility was assessed by evaluating patient accrual, retention, and 30-day completion rates. The registries fidelity was measured by evaluating data missingness. A participant acceptance survey was retrospectively collected and analyzed for the first 25 consecutively enrolled patients.</p><p><strong>Results: </strong>The capture rate of the registry could not be calculated due to a destroyed theatre logbook. The participant accrual and retention rates were 99.4% and 95.1%, respectively. The participant completion rate at 30-days was 75.6%. The overall incidence of missing information in the registry was 3.5%. More than 75% of participant responses to the acceptance survey were positive in each category regarding the ethical conduct of research and the storing of personal data.</p><p><strong>Conclusion: </strong>The value of this study is the reporting and evaluation of a successful perioperative registry implementation with minimal external funding. This framework is being used to develop new data registries and may provide a roadmap for other hospitals with resource constraints.</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/PMC12360225/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144884687","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}
引用次数: 0
Novel Protein Adjuvant Activating Innate IFN-γ and IL-18 Expression and Inducing Rejection of Implanted Colorectal Cancer Following Immunotherapy Using This Adjuvant in Mice. 新型蛋白佐剂激活小鼠植入式结直肠癌免疫治疗后IFN-γ和IL-18的先天表达并诱导排斥反应
Medical research archives Pub Date : 2025-06-01 Epub Date: 2025-06-30 DOI: 10.18103/mra.v13i6.6615
Rajesh Mani, B Mark Evers, Yasuhiro Suzuki
{"title":"Novel Protein Adjuvant Activating Innate IFN-γ and IL-18 Expression and Inducing Rejection of Implanted Colorectal Cancer Following Immunotherapy Using This Adjuvant in Mice.","authors":"Rajesh Mani, B Mark Evers, Yasuhiro Suzuki","doi":"10.18103/mra.v13i6.6615","DOIUrl":"10.18103/mra.v13i6.6615","url":null,"abstract":"<p><p>Our recent study demonstrated that immunizations with nonreplicable MC38 colorectal cancer cells plus a novel recombinant protein adjuvant, the amino-terminus region of dense granule protein 6 (rGRA6Nt) of <i>Toxoplasma gondii</i> (a protozoan parasite), effectively activate the cancer cell-specific CD8<sup>+</sup> T cytotoxic cells and inhibit the growth of implanted tumors of the identical cancer cells after its challenge implantation. In the present study, we first examined whether rGRA6Nt activates mRNA expression for IFN-γ, IL-12, IL-15, and IL-18, which are known to assist an activation of the CD8<sup>+</sup> T cells, in innate immune cells. Following an intraperitoneal injection of rGRA6Nt (40 μg) into SCID mice deficient in both T and B cells, markedly increased levels of mRNA for only IFN-γ and IL-18 were detected in their peritoneal exudate innate immune cells. When C57BL/6 mice were immunized with nonreplicable MC38 colorectal cancer cells plus rGRA6Nt adjuvant twice and challenged with replication-capable cancer cells of the identical colorectal cancer, more than one fifth (22.2%, 6/27) of the immunized mice rejected the growth of the implanted tumors, whereas none (0/27, <i>P</i><0.05) of unimmunized control mice rejected the implanted tumors. These results indicate that rGRA6Nt protein adjuvant has a unique capability to selectively activate expression of IFN-γ and IL-18 in innate immune cells, and that immunizations with nonreplicable cancer cells in combination with this protein adjuvant can induce a protection to reject the growth of the identical tumor cells after its challenge implantation in a significant portion of the immunized mice.</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/PMC12360206/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144884686","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}
引用次数: 0
REVIEW AND RECOMMENDATIONS FOR HEALTH INFORMATICS IN SUB-SAHARAN AFRICAN COUNTRIES: BETWEEN OPPORTUNITIES AND CHALLENGES. 撒哈拉以南非洲国家卫生信息学审查和建议:机遇与挑战之间。
Medical research archives Pub Date : 2025-05-01 Epub Date: 2025-05-31 DOI: 10.18103/mra.v13i5.6554
Olayemi Michael Lawanson, Daniel Berleant, Oluwatomiwa Ajiferuke
{"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}
引用次数: 0
Saying YES to Careers in Cancer Research: A Collaborative Model for Evaluating and Improving a Cancer Education and Research Program. 对癌症研究的职业说YES:一个评估和改进癌症教育和研究项目的合作模式。
Medical research archives Pub Date : 2025-04-01 Epub Date: 2025-04-30 DOI: 10.18103/mra.v13i4.6432
James A Render, Ever Mkonyi, Ashley Langford, Kelli Qua, Damian J Junk
{"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}
引用次数: 0
Tomatidine Attenuates Inflammatory Responses to Exercise-Like Stimulation in Donor-derived Skeletal Muscle Myobundles. 番茄碱减轻供体骨骼肌肌束对运动样刺激的炎症反应。
Medical research archives Pub Date : 2025-04-01 Epub Date: 2025-04-30 DOI: 10.18103/mra.v13i4.6423
Maddalena Parafati, Tushar Sanjay Shenoy, Zon Thwin, Mauro Parlavecchio, Siobhan Malany
{"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}
引用次数: 0
Strategies and Considerations for Safe Reinforcement Learning in Programming Cardiac Implantable Electronic Devices. 心脏植入式电子设备编程中安全强化学习的策略和考虑。
Medical research archives Pub Date : 2025-03-01 Epub Date: 2025-03-29 DOI: 10.18103/mra.v13i3.6363
John Komp, Aaptha Boggaram, David P Kao, Ashutosh Trivedi, Michael A Rosenberg
{"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}
引用次数: 0
A Case Report: 19-Year-Old Hispanic Young Woman with Early-Stage Breast Cancer and a Germline Pathogenic Variant. 一例报告:19岁西班牙裔年轻女性早期乳腺癌和种系致病变异。
Medical research archives Pub Date : 2025-02-01 Epub Date: 2025-02-08 DOI: 10.18103/mra.v13i2.6293
Tarsha Jones, Alice Zhang, Katherine Freeman
{"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}
引用次数: 0
The role of genome composition and activation in shaping the translocation landscape in health and disease. 基因组组成和激活在塑造健康和疾病易位景观中的作用。
Medical research archives Pub Date : 2024-12-29 eCollection Date: 2025-01-01 DOI: 10.18103/mra.v12i12.6212
Anna Oncins, Jessica Velten, Renée Beekman
{"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}
引用次数: 0
A Personalized Medicine Approach is Best for Patients with Homozygous Familial Hypercholesterolemia. 个体化治疗是纯合子家族性高胆固醇血症患者的最佳选择。
Medical research archives Pub Date : 2024-12-01 Epub Date: 2024-12-24 DOI: 10.18103/mra.v12i12.6160
Ana Morales, Allison Jamison, Robert A Hegele, Linda Hemphill, Samuel S Gidding
{"title":"A Personalized Medicine Approach is Best for Patients with Homozygous Familial Hypercholesterolemia.","authors":"Ana Morales, Allison Jamison, Robert A Hegele, Linda Hemphill, Samuel S Gidding","doi":"10.18103/mra.v12i12.6160","DOIUrl":"10.18103/mra.v12i12.6160","url":null,"abstract":"<p><p>Homozygous familial hypercholesterolemia (HoFH) is an autosomal semi-dominant condition characterized by biallelic pathogenic variants impacting low-density lipoprotein receptor (LDLR) function. Affected individuals have severely elevated LDL cholesterol, early onset atherosclerotic heart disease and/or aortic stenosis, and characteristic clinical findings. While the cause is known and diagnosis is relatively simple, real-world HoFH care presents many complexities, including genetic heterogeneity and the diverse personal and social circumstances that influence care. Genetics-informed treatment involves a trial-and-error approach that warrants specific considerations during pregnancy. Thus, HoFH care requires a deep understanding of personal factors, social determinants of health, and a flexible, adaptable approach to treatment, all of which justify the need for personalized care. Framed by complexity theory, this review offers strategies for personalizing HoFH care, including a reconceptualization of the definition of health and implementing a multidisciplinary team approach. We also recommend integrating complexity theory and systems thinking into clinical care. By doing so, we illustrate the advantages of classifying knowledge complexity to inform clinical decision-making. We also demonstrate how openness to relationship-building and time investment is critical to materializing personalized care to HoFH.</p>","PeriodicalId":94137,"journal":{"name":"Medical research archives","volume":"12 12","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12393222/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144984325","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}
引用次数: 0
Diastolic Dysfunction Unveiling Cardiac Light-Chain Amyloidosis: A Case Report. 心脏轻链淀粉样变性的舒张功能障碍1例报告。
Medical research archives Pub Date : 2024-12-01 DOI: 10.18103/mra.v12i12.6168
Somesh Saha, Ritwick Mondal, Shramana Deb, Biswarup Sarkar, Julián Benito-León
{"title":"Diastolic Dysfunction Unveiling Cardiac Light-Chain Amyloidosis: A Case Report.","authors":"Somesh Saha, Ritwick Mondal, Shramana Deb, Biswarup Sarkar, Julián Benito-León","doi":"10.18103/mra.v12i12.6168","DOIUrl":"10.18103/mra.v12i12.6168","url":null,"abstract":"<p><strong>Background: </strong>Cardiac light-chain amyloidosis represents a critical component of this multi-systemic disease, significantly impacting prognosis. The extent of cardiac free light-chain deposition is the primary determinant of survival.</p><p><strong>Case presentation: </strong>We report the case of a 67-year-old male with a 10-year history of diabetes mellitus and arterial hypertension who presented with a two-day history of chest discomfort and difficulty lying down or sleeping, along with a two-month history of progressively worsening exertional dyspnea. On examination, the patient exhibited low blood pressure. A 12-lead electrocardiogram revealed poor R-wave progression and left ventricular hypertrophy. Further evaluation using 2D echocardiography demonstrated significant concentric left ventricular hypertrophy, a restrictive filling pattern, and mild pericardial effusion. Cardiac magnetic resonance imaging, nuclear imaging, and biopsy confirmed the diagnosis of cardiac light-chain amyloidosis.</p><p><strong>Conclusion: </strong>Timely recognition and a high index of suspicion are essential for the early diagnosis of cardiac amyloidosis. Prompt diagnosis enables the initiation of definitive therapy, which may halt disease progression and significantly improve prognosis.</p>","PeriodicalId":94137,"journal":{"name":"Medical research archives","volume":"12 12","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11900892/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143618078","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}
引用次数: 0
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