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Stakeholder Perspectives on the Meaningful Integration of Clinical Informatics Interventions Using Patient-Reported Outcomes in Healthcare. 利益相关者对临床信息学干预在医疗保健中使用患者报告结果的有意义整合的观点。
ACI open Pub Date : 2024-07-01 Epub Date: 2024-12-17 DOI: 10.1055/a-2461-3027
David Russell, Yashika Sharma, Andrew P Ambrosy, Kelly Axsom, Janejira J Chaiyasit, Margaret O Cuomo, Christi Deaton, Anne J Goldberg, Parag Goyal, Angel Guan, Fernanda C G Polubriaginof, Lucy McGurk, Alexander T Sandhu, John A Spertus, Meghan Reading Turchioe, David K Vawdrey, Ruth Masterson Creber
{"title":"Stakeholder Perspectives on the Meaningful Integration of Clinical Informatics Interventions Using Patient-Reported Outcomes in Healthcare.","authors":"David Russell, Yashika Sharma, Andrew P Ambrosy, Kelly Axsom, Janejira J Chaiyasit, Margaret O Cuomo, Christi Deaton, Anne J Goldberg, Parag Goyal, Angel Guan, Fernanda C G Polubriaginof, Lucy McGurk, Alexander T Sandhu, John A Spertus, Meghan Reading Turchioe, David K Vawdrey, Ruth Masterson Creber","doi":"10.1055/a-2461-3027","DOIUrl":"10.1055/a-2461-3027","url":null,"abstract":"<p><strong>Background: </strong>Patient-reported outcomes (PROs) capture where patients are on their disease trajectory and can identify changes in health status from their perspective.</p><p><strong>Objectives: </strong>This study applied the equity and sustainability-informed RE-AIM framework (Reach, Effectiveness, Adoption, Implementation, and Maintenance) to gain insights into clinical informatics interventions for collection and use of PROs across health systems.</p><p><strong>Methods: </strong>A total of 14 health informatics and clinical professionals were interviewed about the development and use of PROs within their health systems and individual practices. Directed content analysis was performed to highlight patterns, similarities, and differences in stakeholder perspectives across RE-AIM domains.</p><p><strong>Results: </strong>The reach of clinical informatics interventions using PROs varied across clinical practices and settings based upon institutional commitment and support, integration of clinical information systems, and engagement with patients and families. Although interventions using PROs were viewed as effective for enabling focused conversations with patients and facilitating shared decision-making, barriers to adoption included licensing requirements associated with PRO instruments, lack of incentives for their use, limited integration of PRO results into electronic medical record systems, and poor support for patients with low technology and/or health literacy. Implementation of interventions using PROs was facilitated through training and support staff who aided clinicians with clinical workflow integration, availability of questionnaires in multiple languages, identifying thresholds and strategies for action, and presenting interpretable visualizations showing changes over time alongside significant clinical events. Maintenance of interventions using PROs was enabled through multimodal data collection approaches and data governance groups that evaluated organizational requests to track new measures.</p><p><strong>Conclusion: </strong>Initiatives to increase the reach of clinical informatics interventions using PROs will require health system investments into medical record system integration, education, and implementation support for clinicians and patients, and efforts to reach patient populations with language barriers or limited technology literacy.</p>","PeriodicalId":72041,"journal":{"name":"ACI open","volume":"8 2","pages":"e79-e88"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12143486/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144251068","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
Enhancing Secure Messaging in Electronic Health Records: Evaluating the Impact of Emoji Chat Reactions on the Volume of Interruptive Notifications 加强电子健康记录中的安全信息传递:评估表情符号聊天反应对中断通知量的影响
ACI open Pub Date : 2024-07-01 DOI: 10.1055/s-0044-1788621
John Will, William Small, Eduardo Iturrate, Paul Testa, Jonah Feldman
{"title":"Enhancing Secure Messaging in Electronic Health Records: Evaluating the Impact of Emoji Chat Reactions on the Volume of Interruptive Notifications","authors":"John Will, William Small, Eduardo Iturrate, Paul Testa, Jonah Feldman","doi":"10.1055/s-0044-1788621","DOIUrl":"https://doi.org/10.1055/s-0044-1788621","url":null,"abstract":"\u0000 Background Electronic health record secure messaging (EHRSM) is an increasingly utilized tool for communication among clinicians. However, there is concern about the growing quantity of disruptions it presents via interruptive notification.\u0000 Objectives The primary aim of this study is to assess whether introducing emoji reactions, which do not trigger push notifications in EHRSM, can alleviate the burden of interruptive notifications. The second aim is to use messaging notification metadata to identify subgroups that might benefit from targeted interventions to aid the adoption of this innovation.\u0000 Methods We implemented the emoji reaction feature into EHRSM across a large academic health system. We evaluated the volume of push notifications 11 weeks before (pre-emoji period) and after (post-emoji period) introducing emoji reactions in EHRSM. Notification metadata was categorized by user type, and users were stratified based on notification volume.\u0000 Results There were 1,387,506 fewer push notifications in the post-emoji period (a decrease of 4.7%). Subgroups of users with increasing mean daily push notifications in the pre-emoji period were associated with decreasing mean daily push notifications in the post-emoji period. Among the eight user subgroups, six experienced a significant reduction in interruptive notifications, with the pharmacy and “other” subgroups not observing a reduction. Users in the top quartile of notification volume saw the greatest reduction in burden across each user subgroup.\u0000 Conclusion Integrating emoji reactions into EHRSM across a large academic health system significantly reduced the burden of push notifications among EHRSM users. Utilizing messaging notification metadata allowed us to identify subgroups that require additional intervention.","PeriodicalId":72041,"journal":{"name":"ACI open","volume":"25 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141838996","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
Using Electronic Health Record Mortality Data to Promote Goals-of-Care Discussions in Seriously Ill Transferred Patients: A Pilot Study 利用电子健康记录死亡率数据促进重症转院患者的护理目标讨论:试点研究
ACI open Pub Date : 2024-07-01 DOI: 10.1055/s-0044-1788652
N. Mahendraker, Esmeralda Gutierrez-Asis, Seho Park, Linda S. Williams, Titus Schleyer, Elizabeth Umberfield
{"title":"Using Electronic Health Record Mortality Data to Promote Goals-of-Care Discussions in Seriously Ill Transferred Patients: A Pilot Study","authors":"N. Mahendraker, Esmeralda Gutierrez-Asis, Seho Park, Linda S. Williams, Titus Schleyer, Elizabeth Umberfield","doi":"10.1055/s-0044-1788652","DOIUrl":"https://doi.org/10.1055/s-0044-1788652","url":null,"abstract":"\u0000 Background Mortality prediction data may aid in identifying seriously ill transferred patients at high risk of dying and facilitate early goals-of-care discussions (GOCD); however, this is rarely evaluated. We recently developed a model for predicting 30-day inpatient mortality, which may be useful for promoting early GOCD.\u0000 Objectives Our objectives were to examine the effects of sharing model-generated mortality risk with hospitalists by assessing (1) if hospitalists agreed with the mortality risk prediction, (2) if they planned to conduct GOCD or consult palliative care within 72 hours of transfer, and (3) if the communication alert affected GOCD timing and other clinical outcomes. We also aimed to measure the association between both the model-generated and hospitalists' stratified risk assessments with patient mortality.\u0000 Methods This was a nonrandomized quasi-experimental pilot study with a historical control group. On the second day of hospitalization, the model-generated risk was communicated to the hospitalists. Hospitalists were asked to answer questions via a HIPAA (Health Insurance Portability and Accountability Act)-compliant mobile communication system, and clinical outcomes were extracted via chart review.\u0000 Results Eighty-four patients (42 in the control and 42 in the intervention group) were included in this study. Hospitalists agreed that all patients in the intervention group were at risk for inpatient mortality. Hospitalists were more likely to indicate a plan to conduct GOCD in the intervention group (n = 9) compared with the control group (n = 4, p < 0.001). In this subset of patients, GOCD was completed within 72 hours in 78% of intervention patients (n = 7) as compared with 50% in the control group (n = 2). The greater absolute value of the model-generated mortality risk was significantly associated with deaths (p = 0.01), similar to the hospitalists' prediction of the mortality risk (p = 0.02).\u0000 Conclusion Communicating model-generated mortality risk to hospitalists is a promising approach to promote timely GOCD.","PeriodicalId":72041,"journal":{"name":"ACI open","volume":"43 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141840740","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
Dealing with Diversity in Digital Psychological Interventions for Young People: A Structured Review 在针对青少年的数字心理干预中处理多样性问题:结构化审查
ACI open Pub Date : 2024-07-01 DOI: 10.1055/s-0044-1788563
Farzad Jahedi, Paul W. Fay Henman, Jillian C. Ryan
{"title":"Dealing with Diversity in Digital Psychological Interventions for Young People: A Structured Review","authors":"Farzad Jahedi, Paul W. Fay Henman, Jillian C. Ryan","doi":"10.1055/s-0044-1788563","DOIUrl":"https://doi.org/10.1055/s-0044-1788563","url":null,"abstract":"In recent years, despite significant progress in digital psychological interventions (DPIs), the prevalence of psychological issues among young adults remains a concern. While research on the feasibility and effectiveness of DPIs is extensive, there's a growing recognition of the need for a sociotechnical approach to enhance user engagement. This review aims to highlight the importance of integrating diversity, especially sociodemographic characteristics, into DPI design and implementation.The review meticulously examined literature from six academic databases focused on DPIs tailored for users aged 12 to 26, spanning the period between 2009 and 2019. The data extraction process specifically targeted biosocial factors such as gender and ethnicity, as well as sociocultural elements like remoteness and labor force status among users. Among the initial pool of 879 articles, a refined selection of 25 underwent detailed analysis. Intriguingly, 14 of these studies did not treat sociodemographic factors as independent variables, leaving only 11 that did. Notably, gender and ethnicity emerged as the most frequently studied factors, with remoteness and labor force considerations receiving comparatively less attention.Despite the acknowledged importance of user engagement in DPI effectiveness, the review highlights a critical gap: insufficient consideration of young adults' sociodemographic characteristics in intervention design and implementation. Therefore, the findings strongly support further mixed-method studies to fully understand the complex social factors influencing user engagement with DPIs. Closing this gap will undoubtedly refine and optimize DPIs to better meet the diverse needs of young adults dealing with psychological challenges.","PeriodicalId":72041,"journal":{"name":"ACI open","volume":"16 S14","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141696377","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
A Usability Survey of a Quality Improvement Data Visualization Tool Among Medical Intensive Care Unit Nurses. 重症监护病房护士质量改进数据可视化工具的可用性调查。
ACI open Pub Date : 2024-01-01 Epub Date: 2024-04-05 DOI: 10.1055/s-0044-1782604
Abigail M Williams, Claire L Davis, Margot Bjoring, Kris Blackstone, Andrew J Barros, Kyle B Enfield
{"title":"A Usability Survey of a Quality Improvement Data Visualization Tool Among Medical Intensive Care Unit Nurses.","authors":"Abigail M Williams, Claire L Davis, Margot Bjoring, Kris Blackstone, Andrew J Barros, Kyle B Enfield","doi":"10.1055/s-0044-1782604","DOIUrl":"10.1055/s-0044-1782604","url":null,"abstract":"<p><strong>Background: </strong>Cognitive overload is prevalent among intensive care unit (ICU) clinicians. Data visualization may decrease cognitive load by assisting with data interpretation and task prioritization. We developed the Bundle Board to display real-time data from the electronic medical record (EMR), highlighting opportunities for action in standardized ICU patient care. This study evaluates the practical usability of this data visualization tool among nurses in the ICU.</p><p><strong>Methods: </strong>The tool is offered as an application separate from the EMR and was available in the medical ICU for eight months before we surveyed unit nursing staff. To evaluate usability of the tool, we adapted the Health-Information Technology Usability Scale (Health-ITUES) and included an option to provide open-ended feedback. Survey data was analyzed using quantitative and qualitative methods.</p><p><strong>Results: </strong>ICU nurses were invited to participate through email and verbal announcements. Of the potential participants, 38% (N=47) responded. The survey demonstrated that the tool was perceived as usable. For each subscale, mean scores were as follows: Perceived Ease of Use 4.40, Impact 4.14, User Control 4.07, and Perceived Usefulness 3.61. There were no significant differences between core and contracted nurses or after stratifying by duration of Bundle Board use. Fifteen respondents completed the optional free-text portion of the survey. Qualitative analysis revealed six subthemes focusing on perceived impacts on quality and safety, cognitive burden and workload, and emotional impact of the Bundle Board.</p><p><strong>Conclusions: </strong>The Bundle Board demonstrated good usability among ICU Nurses, who provided substantive feedback for its improvement. These observations may be generalizable to other comparable interventions. Iterative feedback from end-users is vital to developing and implementing a digital health intervention. Our study provides a framework for performing a usability analysis within a specific clinician population and environment.</p>","PeriodicalId":72041,"journal":{"name":"ACI open","volume":"8 1","pages":"e33-e42"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12303040/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144735766","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
Linking Patient Encounters across Primary and Ancillary Electronic Health Record Systems: A Comparison of Two Approaches. 在主电子健康记录系统和辅助电子健康记录系统之间连接患者会诊:两种方法的比较。
ACI open Pub Date : 2024-01-01 Epub Date: 2024-04-10 DOI: 10.1055/s-0044-1782679
Marcos A Davila, Evan T Sholle, Xiaobo Fuld, Mark L Israel, Curtis L Cole, Thomas R Campion
{"title":"Linking Patient Encounters across Primary and Ancillary Electronic Health Record Systems: A Comparison of Two Approaches.","authors":"Marcos A Davila, Evan T Sholle, Xiaobo Fuld, Mark L Israel, Curtis L Cole, Thomas R Campion","doi":"10.1055/s-0044-1782679","DOIUrl":"10.1055/s-0044-1782679","url":null,"abstract":"<p><strong>Background: </strong>To achieve scientific goals, researchers often require integration of data from a primary electronic health record (EHR) system and one or more ancillary EHR systems used during the same patient care encounter. Although studies have demonstrated approaches for linking patient identity records across different EHR systems, little is known about linking patient encounter records across primary and ancillary EHR systems.</p><p><strong>Objectives: </strong>We compared a patients-first approach versus an encounters-first approach for linking patient encounter records across multiple EHR systems.</p><p><strong>Methods: </strong>We conducted a retrospective observational study of 348,904 patients with 533,283 encounters from 2010 to 2020 across our institution's primary EHR system and an ancillary EHR system used in perioperative settings. For the patients-first approach and the encounters-first approach, we measured the number of patient and encounter links created as well as runtime.</p><p><strong>Results: </strong>While the patients-first approach linked 43% of patients and 49% of encounters, the encounters-first approach linked 98% of patients and 100% of encounters. The encounters-first approach was 20 times faster than the patients-first approach for linking patients and 33% slower for linking encounters.</p><p><strong>Conclusion: </strong>Findings suggest that common patient and encounter identifiers shared among EHR systems via automated interfaces may be clinically useful but not \"research-ready\" and thus require an encounters-first linkage approach to enable secondary use for scientific purposes. Based on our search, this study is among the first to demonstrate approaches for linking patient encounters across multiple EHR systems. Enterprise data warehouse for research efforts elsewhere may benefit from an encounters-first approach.</p>","PeriodicalId":72041,"journal":{"name":"ACI open","volume":"8 1","pages":"e43-e48"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11101195/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141065965","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
Factors Influencing Health Care Professionals' Perceptions of Frequent Drug–Drug Interaction Alerts 影响医护专业人员对频繁发布药物相互作用警报的看法的因素
ACI open Pub Date : 2024-01-01 DOI: 10.1055/s-0044-1782534
Yasmine Biady, Teresa Lee, Lily Pham, A. Patanwala, Simon Poon, A. Ritchie, Rosemary Burke, Jonathan Penm
{"title":"Factors Influencing Health Care Professionals' Perceptions of Frequent Drug–Drug Interaction Alerts","authors":"Yasmine Biady, Teresa Lee, Lily Pham, A. Patanwala, Simon Poon, A. Ritchie, Rosemary Burke, Jonathan Penm","doi":"10.1055/s-0044-1782534","DOIUrl":"https://doi.org/10.1055/s-0044-1782534","url":null,"abstract":"\u0000 Background Drug–drug interactions (DDIs) remain a highly prevalent issue for patients in both community and hospital settings. Electronic medication management systems have implemented DDI alerts to mitigate DDI-related harm from occurring.\u0000 Objectives The primary aim of this study was to explore factors that influence health care professionals' (hospital doctors, hospital pharmacists, general practitioners, and community pharmacists) perceptions and action taken by them in response to DDI alerts.\u0000 Methods A qualitative study was conducted using semi-structured interviews between early January and late February 2021. The top 20 most frequently triggered DDI alerts previously identified were used as examples of alert prompts shown to participants.\u0000 Results A total of 20 participants were recruited. General practitioners (n = 4) were most likely to consider DDI alerts to be clinically relevant and important, and hospital doctors (n = 4) were most likely to consider these alerts not being clinically relevant nor important. Three main factors were identified to influence health care professionals' perceptions of DDI alerts, which included clinical relevance, visual presentation, and content of alerts.\u0000 Conclusion Health care professionals' perceptions of DDI alerts are influenced by multiple factors and considerations are required to create tailored alerts for users and their clinical contexts. Improvement in DDI alerts should be a priority to improve patient medication safety and health outcomes.","PeriodicalId":72041,"journal":{"name":"ACI open","volume":"19 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140526315","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
User-centered Design and Formative Evaluation of a Web Application to Collect and Visualize Real-time Clinician Well-being Levels 以用户为中心设计网络应用程序并对其进行形成性评估,以收集和直观显示临床医生的实时健康水平
ACI open Pub Date : 2024-01-01 DOI: 10.1055/s-0044-1779698
Derek Shu, Catherine T. Xu, Somya Pandey, Virginia Walls, Kristen Tenney, Abby Georgilis, Lisa Melink, Danny T.Y. Wu, Jennifer Molano
{"title":"User-centered Design and Formative Evaluation of a Web Application to Collect and Visualize Real-time Clinician Well-being Levels","authors":"Derek Shu, Catherine T. Xu, Somya Pandey, Virginia Walls, Kristen Tenney, Abby Georgilis, Lisa Melink, Danny T.Y. Wu, Jennifer Molano","doi":"10.1055/s-0044-1779698","DOIUrl":"https://doi.org/10.1055/s-0044-1779698","url":null,"abstract":"\u0000 Background Clinician burnout is increasingly prevalent in the health care workplace. Hospital leadership needs an informatics tool to measure clinicians' well-being levels and provide empirical evidence to improve their work environment.\u0000 Objectives This study aimed to (1) design and implement a web-based application to collect and visualize clinicians' well-being levels and (2) conduct formative usability evaluation.\u0000 Methods Clinician and staff well-being champions guided the development of the Well-being Check application. User-centered design and Agile principles were used for incremental development of the app. The app included a customizable survey and an interactive visualization. The survey consisted of six standard, two optional, and three additional questions. The interactive visualization included various charts and word clouds with filters for drill-down analysis. The evaluation was done primarily with the rehabilitation (REHAB) team using data-centered approaches through historical survey data and qualitative coding of the free-text explanations and user-centered approaches through the System Usability Scale (SUS).\u0000 Results The evaluation showed that the app appropriately accommodated historical survey data from the REHAB team, enabling the comparison between self-assessed and perceived team well-being levels, and summarized key drivers based on the qualitative coding of the free-text explanations. Responses from the 23 REHAB team members showed an above-average score (SUS: 80.22), indicating high usability of the app.\u0000 Conclusion The Well-being Check app was developed in a user-centered manner and evaluated to demonstrate its effectiveness and usability. Future work includes iterative refinement of the app and designing a pre-poststudy using the app to measure the change in clinicians' well-being levels for quality improvement intervention.","PeriodicalId":72041,"journal":{"name":"ACI open","volume":"101 3-4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140516992","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
DNM1L variant presenting as adolescent-onset sensory neuronopathy, spasticity, dystonia, and ataxia. DNM1L 变异表现为青少年发病型感觉神经病、痉挛、肌张力障碍和共济失调。
ACI open Pub Date : 2023-12-01 Epub Date: 2023-07-28 DOI: 10.1055/s-0043-1771352
Alexander S Wang, Gabrielle Lemire, Grace E VanNoy, Christina Austin-Tse, Anne O'Donnell-Luria, Camilla Kilbane
{"title":"DNM1L variant presenting as adolescent-onset sensory neuronopathy, spasticity, dystonia, and ataxia.","authors":"Alexander S Wang, Gabrielle Lemire, Grace E VanNoy, Christina Austin-Tse, Anne O'Donnell-Luria, Camilla Kilbane","doi":"10.1055/s-0043-1771352","DOIUrl":"10.1055/s-0043-1771352","url":null,"abstract":"<p><p><i>DMN1L</i> encodes for dynamin-like protein 1 (DLP1) which plays a key role in perixosomal and mitochondrial fission. Individuals with heterozygous variants in <i>DNM1L</i> present with a wide range of neurologic symptoms, including encephalopathy, epilepsy, and motor deficits. Here we report on a woman presenting with adolescence onset of sensory neuronopathy, spasticity, dystonia, and ataxia. Trio genome sequencing identified a heterozygous variant in <i>DNM1L</i> (NM_012062.3 c.121G>A/p.Val41Met) which was thought to be pathogenic. This case describes the latest known symptomatic onset of <i>DMN1L-</i>related disease described in literature. We highlight our approach to a challenging diagnostic workup and interpretation of a specific variant that has not been previously reported. Furthermore, the case highlights the diagnostic importance of utilizing genomic sequencing and research studies for patients with rare disease.</p>","PeriodicalId":72041,"journal":{"name":"ACI open","volume":"05 1","pages":"475-478"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10932615/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76846779","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
Will the Doctor "See" You Now? The Development and Implementation of a Targeted Telemedicine System for Primary Care. 医生现在会“看见”你吗?有针对性的初级保健远程医疗系统的开发和实施。
ACI open Pub Date : 2023-07-01 Epub Date: 2023-10-18 DOI: 10.1055/s-0043-1776038
Jeremy A Epstein, Zoljargal Lkhagvajav, Tempest Young, Amanda Bertram, Hsin-Chieh Yeh, Casey Overby Taylor
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