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Achieving Chronic Care Equity by Leveraging the Telehealth Ecosystem (ACCTIVATE): A Multilevel Randomized Controlled Trial Protocol. 通过利用远程医疗生态系统(ACCTIVATE)实现慢性病护理公平:多层次随机对照试验协议》。
Pub Date : 2024-11-01 DOI: 10.18103/mra.v12i11.6087
Adenike Omomukuyo, Andy Ramirez, Aliyah Davis, Alexandra Velasquez, Adriana L Najmabadi, Marianna Kong, Rachel Willard-Grace, William Brown, Andrew Broderick, Karla Suomala, Charles E McCulloch, Nora Franco, Urmimala Sarkar, Courtney Lyles W, Amber S Tran, Anjana E Sharma, Delphine S Tuot

Background: Racial/ethnic and socioeconomic disparities in diabetes and hypertension outcomes persist in the United States (U.S.), and worsened during the COVID-19 pandemic. This was in part due to suboptimal implementation of telehealth in U.S. safety-net settings alongside the pre-existing "digital divide" - structural determinants that limit access to digital tools by marginalized communities. To improve health equity, it is critical that health systems in the U.S. integrate principles of digital and health literacy for more equitable chronic disease care.

Methods: We are conducting a 2x2 factorial randomized controlled trial, in partnership with a Community Advisory Board, assessing a multi-level intervention addressing barriers that affect the equitable use of telehealth amongst low-income patients in San Francisco County. Patient-level support is provided through the evidence-based strategies of health coaching and digital navigation ("digital coaching"); clinic-level support includes equity dashboards, patient advisory councils, and practice facilitation. We are randomizing 600 low-income, racially/ethnically diverse English and Spanish-speaking patients with uncontrolled diabetes to receive digital coaching (n=200) vs. usual care (n=400) for 3 months; and 11 public health primary care clinics to clinic support vs. usual care for 24 months. We aim to evaluate the impact of patient and clinic level interventions to determine individual effectiveness and potential synergistic impact on clinical and process measures related to diabetes and telehealth outcomes.

Results: The study's primary clinical outcome is change in patient-level Hemoglobin A1C (A1c); the primary process outcome is patient portal usage. Secondary clinical outcomes include changes in patient-level systolic blood pressure (SBP) and microalbuminuria (UACR), and changes in clinic-level A1c, SBP, and UACR. Secondary process outcomes assess patient-level changes in digital literacy, medication adherence, patient activation, and visit show rates, and clinic-level measures of telehealth adoption.

Discussion: The ACCTiVATE trial tests a multi-level intervention developed through a stakeholder-engaged research approach and user-centered design to be feasible and acceptable for impacted communities. If efficacious, ACCTiVATE may provide a scalable model to improve chronic health outcomes and telehealth equity among marginalized racial/ethnic populations experiencing structural and interpersonal access barriers.

Trial registration: ClinicalTrials.gov identifier NCT06598436. Registered 15 September 2024.

背景:在美国,糖尿病和高血压治疗结果中的种族/民族和社会经济差异持续存在,并在 COVID-19 大流行期间进一步恶化。部分原因是美国安全网环境中远程医疗的实施效果不佳,同时还存在 "数字鸿沟"--限制边缘化社区使用数字工具的结构性决定因素。为了提高健康公平性,美国的医疗系统必须将数字和健康扫盲原则结合起来,以实现更公平的慢性病护理:方法:我们正在与社区咨询委员会合作开展一项 2x2 因式随机对照试验,评估针对影响旧金山低收入患者公平使用远程医疗的障碍的多层次干预措施。患者层面的支持通过基于证据的健康指导和数字导航("数字指导")策略提供;诊所层面的支持包括公平仪表板、患者咨询委员会和实践促进。我们将对 600 名低收入、种族/族裔多元化的英语和西班牙语糖尿病未得到控制的患者进行随机分组,让他们在 3 个月内接受数字辅导(200 人)与常规护理(400 人);并让 11 家公共卫生初级保健诊所在 24 个月内接受诊所支持与常规护理。我们的目标是评估患者和诊所层面干预措施的影响,以确定对与糖尿病和远程医疗结果相关的临床和流程措施的个体有效性和潜在协同影响:研究的主要临床结果是患者一级血红蛋白 A1C (A1c) 的变化;主要过程结果是患者门户网站的使用情况。次要临床结果包括患者水平收缩压 (SBP) 和微量白蛋白尿 (UACR) 的变化,以及诊所水平 A1c、SBP 和 UACR 的变化。次要过程结果评估患者层面的数字素养、用药依从性、患者活跃度和就诊显示率的变化,以及诊所层面的远程医疗采用措施:ACCTiVATE 试验检验了通过利益相关者参与的研究方法和以用户为中心的设计开发的多层次干预措施是否可行并为受影响社区所接受。如果效果显著,ACCTiVATE 可能会提供一个可扩展的模式,以改善遭受结构性和人际访问障碍的边缘化种族/民族人群的慢性病健康结果和远程医疗公平性:试验注册:ClinicalTrials.gov 识别码 NCT06598436。注册日期:2024 年 9 月 15 日。
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引用次数: 0
Cultural Effects on the Performance of Older Haitian Immigrants on Timed Cognitive Tests. 文化对老年海地移民时间认知测试表现的影响。
Pub Date : 2024-11-01 Epub Date: 2024-11-30 DOI: 10.18103/mra.v12i11.5868
Marie Adonis-Rizzo, Ruth M Tappen, Monica Rosselli, David Newman, Joshua Conniff, Jinwoo Jang, KwangSoo Yang, Borko Furht

Background: Ignoring the cultural factors that can affect performance on cognitive tests may result in use of tests that have not been validated for that group. One example is testing of Haitian Creole speaking adults who are increasingly affected by Alzheimer's disease and related dementias, for whom few tests have been validated.

Aims: Our purpose is to describe differences in timed test performance between Haitian Creole and English-speaking participants and explore factors that may account for any differences in results found.

Methods: Data was obtained from an ongoing longitudinal driving and cognition study "In Vehicle Sensors to Detect Cognitive Change in Older Drivers." Two groups consisting of 12 Creole speaking and 12 English speaking older adults were matched by age and gender. Test scores were selected from the battery of tests administered in the parent study. The measures were translated by two bilingual Creole-English researchers. Group performance on five timed cognitive tests commonly used in research was compared.

Results: The English-speaking group's mean scores were significantly higher than the Creole speaking group on the MoCA and the timed Animal category fluency, letter P fluency, Stroop Color Test, and Trail Making Test A and B. The most significant effects were noted in Letter P fluency, Trail Making Test A and B and Animal category fluency where the differences had large effect sizes. However, the Creole speaking group had higher mean scores than the English-Speaking group on the Stroop Color Word Test, although the difference was not statistically significant. It was not feasible to match education levels due to the differences in years of education across the groups. These results highlight the significant role of culture and linguistic context in cognitive task performance.

Conclusions: The results suggest performance in cognitive testing among non-English speaking groups may be impacted by cultural factors related to time perception and the testing approach employed, leading to misinterpretation and misdiagnosis. Future studies should explore the fairness of various cognitive testing approaches with Haitian older adults and other societies with cultures and educational approaches different from those of Western cultures.

背景:忽略可能影响认知测试表现的文化因素可能导致使用未经该群体验证的测试。一个例子是对海地说克里奥尔语的成年人进行测试,这些成年人越来越多地受到阿尔茨海默病和相关痴呆症的影响,但很少有测试得到验证。目的:我们的目的是描述海地克里奥尔语和英语参与者在时间测试表现上的差异,并探讨可能导致结果差异的因素。方法:数据来自一项正在进行的纵向驾驶和认知研究“在车辆传感器中检测老年驾驶员的认知变化”。两组分别由12名说克里奥尔语和12名说英语的老年人组成,按年龄和性别进行匹配。测试分数是从父母研究中进行的一系列测试中选择的。测量结果由两名双语克里奥尔-英语研究人员翻译。比较了研究中常用的五种定时认知测试的小组表现。结果:英语组在MoCA和计时动物类别流畅性、字母P流畅性、Stroop颜色测试和小径制作测试A和B方面的平均得分显著高于克里奥尔语组,其中字母P流畅性、小径制作测试A和B和动物类别流畅性方面的影响最为显著,差异具有较大的效应量。然而,在Stroop颜色单词测试中,说克里奥尔语的组比说英语的组平均得分更高,尽管差异在统计上并不显著。由于各组受教育年限的差异,使教育水平相匹配是不可行的。这些结果强调了文化和语言语境在认知任务表现中的重要作用。结论:非英语群体的认知测试表现可能受到与时间感知相关的文化因素和所采用的测试方法的影响,从而导致误解和误诊。未来的研究应该探索各种认知测试方法在海地老年人和其他文化和教育方法不同于西方文化的社会中的公平性。
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引用次数: 0
Characteristics associated with social anxiety in adults with developmental stuttering: A review. 成人发展性口吃与社交焦虑相关的特征:综述。
Pub Date : 2024-10-01 Epub Date: 2024-10-22 DOI: 10.18103/mra.v12i10.5876
K R Bauerly

People who stutter are at a greater risk for developing symptoms of social anxiety, with up to 22-60% of adults who stutter meeting the criteria for a clinical diagnosis. Negative attitudes and feelings about speaking and stuttering are reported to emerge as early as the preschool years and are suspected to be due to exposure to negative listener reactions, stereotyping and social isolation. Repeated negative experiences lead to feelings of fear, embarrassment and loss of control during speaking which over time, leads to the development of more severe difficulties with speaking and an overall apprehension to speak as they perceive themselves as an incompetent communicator. The present review aims to summarize risk factors, particularly temperament and environmental factors, that are reported to play a role in the emergence and maintenance of social anxiety in people who stutter. Another aim of this review is to summarize the features of social anxiety reported in adults who stutter, some of which, are similar to high socially anxious fluent speakers (e.g., avoidant strategies) while others are specific to stuttering (e.g., muscle tension). The clinical implications of these findings and recommendations for future research are also discussed.

口吃的人出现社交焦虑症状的风险更大,多达22-60%的口吃成年人符合临床诊断的标准。据报道,对说话和口吃的消极态度和感觉早在学龄前就出现了,怀疑是由于暴露于消极的听众反应、刻板印象和社会孤立。反复的负面经历会导致说话时的恐惧、尴尬和失控感,随着时间的推移,会导致更严重的说话困难和整体的说话恐惧,因为他们认为自己是一个无能的沟通者。本综述旨在总结风险因素,特别是气质和环境因素,这些因素被报道在口吃者社交焦虑的出现和维持中发挥作用。本综述的另一个目的是总结在口吃的成年人中报道的社交焦虑的特征,其中一些类似于高社交焦虑的流利说话者(例如,回避策略),而另一些则是口吃特有的(例如,肌肉紧张)。本文还讨论了这些发现的临床意义和对未来研究的建议。
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引用次数: 0
Air Pollution as an Environmental Risk Factor for Alzheimer's Disease and Related Dementias. 空气污染是阿尔茨海默病和相关痴呆的环境风险因素。
Pub Date : 2024-10-01 Epub Date: 2024-10-31 DOI: 10.18103/mra.v12i10.5825
Heui Hye Park, Matthew J Armstrong, Fredric A Gorin, Pamela J Lein

Alzheimer's disease and related dementias are a leading cause of morbidity in our aging populations. Although influenced by genetic factors, fewer than 5% of Alzheimer's disease and related dementia cases are due solely to genetic causes. There is growing scientific consensus that these dementias arise from complex gene by environment interactions. The 2020 Lancet Commission on dementia prevention, intervention, and care identified 12 modifiable risk factors of dementia, including lifestyle, educational background, comorbidities, and environmental exposures to environmental contaminants. In this review, we summarize the current understanding and data gaps regarding the role(s) of environmental pollutants in the etiology of Alzheimer's disease and related dementias with a focus on air pollution. In addition to summarizing findings from epidemiological and experimental animal studies that link airborne exposures to environmental contaminants to increased risk and/or severity of Alzheimer's disease and related dementias, we discuss currently hypothesized mechanism(s) underlying these associations, including peripheral inflammation, neuroinflammation and epigenetic changes. Key data gaps in this rapidly expanding investigative field and approaches for addressing these gaps are also addressed.

阿尔茨海默病和相关的痴呆症是老年人群发病的主要原因。虽然受到遗传因素的影响,但只有不到5%的阿尔茨海默病和相关痴呆病例是完全由遗传原因引起的。越来越多的科学共识认为,这些痴呆症是由复杂的基因和环境相互作用引起的。2020年《柳叶刀》痴呆症预防、干预和护理委员会确定了12种可改变的痴呆症风险因素,包括生活方式、教育背景、合并症和环境污染物暴露。在这篇综述中,我们总结了目前对环境污染物在阿尔茨海默病和相关痴呆病因学中的作用的理解和数据缺口,重点是空气污染。除了总结流行病学和实验动物研究的发现,将空气中暴露于环境污染物与阿尔茨海默病和相关痴呆的风险和/或严重程度增加联系起来,我们还讨论了目前这些关联的假设机制,包括外周炎症、神经炎症和表观遗传变化。还讨论了这一迅速扩大的调查领域的关键数据差距和解决这些差距的方法。
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引用次数: 0
Hybrid care model: Combining telemedicine and office visits for diabetes management in older adults with type 1 diabetes. 混合护理模式:结合远程医疗和办公室就诊对老年1型糖尿病患者的糖尿病管理。
Pub Date : 2024-09-01 Epub Date: 2024-09-30 DOI: 10.18103/mra.v12i9.5728
Elena Toschi, Atif Adam, Nana Frimpong, Rebecca Hurlbert, Christine Slyne, Lori Laffel, Medha Munshi

Aims: To evaluate the use of hybrid (telehealth and in-person) care on visitation and glycaemia in older adults with type 1 diabetes (T1D).

Methods: In this retrospective study, we examined clinical characteristics, number of visits (telehealth and in-person) and continuous glucose monitoring (CGM) metrics for older adults (≥65 years) with T1D from electronic health records during the pre-COVID-19 pandemic (March 1, 2019-March 1, 2020; in-person) and pandemic (September 1, 2020-August 31, 2021; hybrid) periods. Main outcomes were the number of visits and changes in glycaemic control (HbA1c), and in a sub-group of older adults using CGM, changes in CGM metrics between in-person and hybrid care.

Results: We analysed data of 661 older adults with T1D (age 72±5 years). The hybrid care resulted in an increased number of annual diabetes visits (6.3 vs 4.2 visits/person) without change in glycaemic control (HbA1c 7.4% vs 7.2%) compared with in-person care alone. In the sub-group of 299 older adults with T1D using CGM, hybrid care compared with in-person care resulted in an improvement of time-in-range (70-180 mg/dL) (68% to 71%; p<0.001) without increasing hypoglycaemia (<70 mg/dL).

Conclusion: Compared with in-person only visits, hybrid care maintained visit frequency and preserved glycaemic control measured as HbA1c. In a sub-group of older adults with T1D using CGM, time-in-range improved while time in hypoglycaemia did not change. These data suggest that a hybrid care model is efficacious in maintaining visitation and glycaemic control, and, as demonstrated in a sub-group of older adults with T1D using CGM, safe with respect to time in hypoglycaemia.

目的:评估在老年1型糖尿病患者(T1D)中使用混合(远程医疗和面对面)护理的探视和血糖情况。方法:在这项回顾性研究中,我们研究了2019年3月1日至2020年3月1日期间,来自电子健康记录的老年(≥65岁)T1D患者的临床特征、就诊次数(远程医疗和面对面)和连续血糖监测(CGM)指标。面对面)和大流行(2020年9月1日至2021年8月31日;混合)。主要结果是就诊次数和血糖控制(HbA1c)的变化,在使用CGM的老年人亚组中,CGM指标在面对面护理和混合护理之间的变化。结果:我们分析了661例老年T1D患者(年龄72±5岁)的资料。与单独的现场护理相比,混合护理导致每年糖尿病就诊次数增加(6.3次对4.2次/人),而血糖控制没有改变(HbA1c 7.4%对7.2%)。在299名使用CGM的老年T1D患者亚组中,与面对面护理相比,混合护理导致范围内时间(70-180 mg/dL)的改善(68%至71%;结论:与单独就诊相比,混合护理维持了就诊频率,并保留了以HbA1c测量的血糖控制。在使用CGM的老年T1D患者亚组中,范围内时间得到改善,而低血糖时间没有改变。这些数据表明,混合护理模式在维持探视和血糖控制方面是有效的,并且正如在使用CGM的老年T1D患者亚组中所证明的那样,在低血糖时间方面是安全的。
{"title":"Hybrid care model: Combining telemedicine and office visits for diabetes management in older adults with type 1 diabetes.","authors":"Elena Toschi, Atif Adam, Nana Frimpong, Rebecca Hurlbert, Christine Slyne, Lori Laffel, Medha Munshi","doi":"10.18103/mra.v12i9.5728","DOIUrl":"https://doi.org/10.18103/mra.v12i9.5728","url":null,"abstract":"<p><strong>Aims: </strong>To evaluate the use of hybrid (telehealth and in-person) care on visitation and glycaemia in older adults with type 1 diabetes (T1D).</p><p><strong>Methods: </strong>In this retrospective study, we examined clinical characteristics, number of visits (telehealth and in-person) and continuous glucose monitoring (CGM) metrics for older adults (≥65 years) with T1D from electronic health records during the pre-COVID-19 pandemic (March 1, 2019-March 1, 2020; in-person) and pandemic (September 1, 2020-August 31, 2021; hybrid) periods. Main outcomes were the number of visits and changes in glycaemic control (HbA1c), and in a sub-group of older adults using CGM, changes in CGM metrics between in-person and hybrid care.</p><p><strong>Results: </strong>We analysed data of 661 older adults with T1D (age 72±5 years). The hybrid care resulted in an increased number of annual diabetes visits (6.3 vs 4.2 visits/person) without change in glycaemic control (HbA1c 7.4% vs 7.2%) compared with in-person care alone. In the sub-group of 299 older adults with T1D using CGM, hybrid care compared with in-person care resulted in an improvement of time-in-range (70-180 mg/dL) (68% to 71%; p<0.001) without increasing hypoglycaemia (<70 mg/dL).</p><p><strong>Conclusion: </strong>Compared with in-person only visits, hybrid care maintained visit frequency and preserved glycaemic control measured as HbA1c. In a sub-group of older adults with T1D using CGM, time-in-range improved while time in hypoglycaemia did not change. These data suggest that a hybrid care model is efficacious in maintaining visitation and glycaemic control, and, as demonstrated in a sub-group of older adults with T1D using CGM, safe with respect to time in hypoglycaemia.</p>","PeriodicalId":94137,"journal":{"name":"Medical research archives","volume":"12 9","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11737547/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143019091","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
Psychometric Evaluation of Screens for Common Mental Disorders, Severe Mental Disorders, Substance Use Disorders, and Suicide Risk in Mozambican Healthcare. 莫桑比克医疗保健中常见精神障碍、严重精神障碍、药物使用障碍和自杀风险筛查的心理计量学评估。
Pub Date : 2024-08-31 DOI: 10.18103/mra.v12i8.5294
Kathryn L Lovero, Melissa A Stockton, M Claire Greene, Cale Basaraba, Saida Khan, Dirceu Mabunda, Flavio Mandlate, Lidia Gouveia, Wilza Fumo, Melanie M Wall, Cristiane S Duarte, Maria A Oquendo, Milton L Wainberg

Globally, mental and substance use disorders are a leading cause of disease burden. In low- and middle-income countries, where there is an extreme shortage of trained mental health specialists, validated, brief screening tools for mental and substance use disorders are required for non-specialists to efficiently identify patients in need of mental health care. Mozambique, one of the poorest countries in the world, has fewer than two mental health specialists for every 100,000 people. In the present study, we evaluated a comprehensive set of seven measures for depression, anxiety, somatization, alcohol use disorder, substance use disorder, psychosis and mania, and suicide risk among N=911 Mozambican adults in general healthcare settings. All instruments demonstrated acceptable internal consistency (α > 0.75). Compared to diagnoses made by the Mini International Neuropsychiatric Interview, all measures showed good criterion validity (AUC > 0.75), except the Psychosis Screening Questionnaire, which showed low sensitivity (0.58) for psychotic disorder. No substantial differences were observed in internal consistency when stratifying by gender, age, education level, primary language, facility-type, and patient status; criterion validity showed some variability when stratified by sub-population, particularly for education, primary language, and whether the participant was seeking care that day. Exploratory factor analyses indicated that the measures best differentiate categories of diagnoses (common mental disorder, severe mental disorders, substance use disorders, and suicide risk) rather than individual diagnoses, suggesting the utility of a transdiagnostic approach. Our findings support the use of these measures in Mozambique to identify common mental disorders, substance use disorders, and suicide risk, but indicate further research is needed to develop an adequate screen for severe mental disorders. Given the limited mental health specialists in this and other LMIC settings, these brief measures can support non-specialist provision of mental health services and promote closure of the treatment gap.

在全球范围内,精神障碍和药物使用障碍是造成疾病负担的主要原因。在中低收入国家,训练有素的心理健康专家极度缺乏,因此需要针对精神障碍和药物使用障碍的有效、简短筛查工具,以便非专业人员有效识别需要心理健康护理的患者。莫桑比克是世界上最贫穷的国家之一,每 10 万人中只有不到两名心理健康专家。在本研究中,我们对莫桑比克 911 名成年人的抑郁、焦虑、躯体化、酒精使用障碍、药物使用障碍、精神病和躁狂症以及自杀风险进行了全面评估。所有工具的内部一致性均可接受(α > 0.75)。与迷你国际神经精神病学访谈的诊断结果相比,除精神病筛查问卷对精神病性障碍的敏感性较低(0.58)外,其他所有测量指标均显示出良好的标准效度(AUC > 0.75)。按性别、年龄、受教育程度、主要语言、机构类型和患者身份进行分层时,内部一致性未发现实质性差异;按亚人群进行分层时,标准效度显示出一定的差异性,尤其是受教育程度、主要语言和受试者当天是否就诊。探索性因素分析表明,这些测量方法最能区分诊断类别(常见精神障碍、严重精神障碍、药物使用障碍和自杀风险),而不是单个诊断,这表明了跨诊断方法的实用性。我们的研究结果支持在莫桑比克使用这些测量方法来识别普通精神障碍、药物使用障碍和自杀风险,但表明还需要进一步的研究来开发适当的严重精神障碍筛查方法。鉴于莫桑比克和其他低收入与中等收入国家的精神卫生专家有限,这些简明的测量方法可以支持非专家提供精神卫生服务,并促进缩小治疗差距。
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引用次数: 0
Identification of a Novel SCN5A gene variant in a young female with atrioventricular canal defect in the absence of classical Brugada syndrome phenotype. 在一名年轻女性房室管缺损患者中发现新型 SCN5A 基因变异体,该患者无典型 Brugada 综合征表型。
Pub Date : 2024-08-01 Epub Date: 2024-07-31 DOI: 10.18103/mra.v12i7.5527
Ritwick Mondal, Rahul Manna, Emili Banerjee, Julián Benito-León, Shramana Deb

Background: Brugada syndrome is generally considered a cardiac channelopathy disorder characterized by syncope or sudden cardiac death. The sodium voltage-gated channel alpha subunit 5 (SCN5A) gene is the most commonly mutated gene associated with Brugada syndrome. Recent discoveries of new variants of this gene, along with current guidance of family screening, have identified several asymptomatic carriers with potentially causative mutations.

Case presentation: We present the case of a 25-year-old female patient without any family history of Brugada syndrome nor related congenital cardiovascular disorders, with an extensive atrioventricular canal defect, who tested positive for a novel heterozygous variant NM_198056.3: c.3169G>C (p. Asp1057 His) in the SCN5A gene. She had no history of syncope or aborted sudden cardiac death except for recurrent chest infections since her early childhood. Intriguingly, she did not show a type I Brugada electrocardiogram pattern.

Conclusions: This report provides a novel heterozygous variant NM_198056.3: c.3169G>C (p. Asp1057 His) in the SCN5A gene, which may have a potential detrimental effect.

背景:Brugada 综合征通常被认为是一种以晕厥或心脏性猝死为特征的心脏通道病变疾病。钠电压门控通道α亚基 5(SCN5A)基因是与 Brugada 综合征相关的最常见变异基因。最近发现了该基因的新变异,加上目前对家族筛查的指导,已经发现了几个无症状的潜在致病基因突变携带者:本病例是一名 25 岁的女性患者,既无布鲁格达综合征家族史,也无相关的先天性心血管疾病史,患有广泛的房室管缺损,其 SCN5A 基因的新型杂合变异 NM_198056.3:c.3169G>C(p. Asp1057 His)检测呈阳性。除了自幼胸部反复感染外,她没有晕厥或心脏猝死的病史。令人费解的是,她没有显示出 I 型 Brugada 心电图模式:本报告提供了 SCN5A 基因中一个新的杂合变异 NM_198056.3:c.3169G>C(p. Asp1057 His),它可能具有潜在的有害影响。
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引用次数: 0
Design and testing of Hepatitis Delta Ribozymes for suppression of Chikungunya virus infection in cell cultures. 设计和测试用于抑制基孔肯雅病毒在细胞培养物中感染的肝炎δ波酶。
Pub Date : 2024-08-01 Epub Date: 2024-08-31 DOI: 10.18103/mra.v12i8.5762
Mark E Fraser, Cheryl Kucharski, Zoe Loh, Erin Hanahoe, Malcolm J Fraser

Chikungunya virus is an emerging pathogen with widespread distribution in regions of Africa, India, and Asia that threatens to spread into temperate climates following the introduction of its major vector, Aedes albopictus. Recent cases have been documented in Europe, the Caribbean, and the Americas. Chikungunya virus causes a disease frequently misdiagnosed as Dengue fever, with potentially life-threatening symptoms that can result in long term debilitating arthritis. There have been ongoing investigations of possible therapeutic interventions for both acute and chronic symptoms, but to date none have proven effective in reducing the severity or lasting effects of this disease. Recently, a promising vaccine candidate has received accelerated approval, indicating the importance of remedies to this emerging worldwide health threat. Nonetheless, therapeutic interventions for Chikungunya and other mosquito borne virus diseases are urgently needed yet remain elusive. The increasing risk of spread from endemic regions via human travel and commerce, coupled with the absence of a vaccine or approved therapeutic, puts a significant proportion of the world population at risk for this disease. In this report we explore the possibility of using Specific On/oFf Adapter Hepatitis Delta Virus Ribozymes as antivirals in cells infected with Chikungunya virus. The results we obtained suggest there could be some role in using these ribozyme molecules as antiviral therapies for not only Chikungunya virus, but potentially other viruses as well.

基孔肯雅病毒是一种新出现的病原体,广泛分布于非洲、印度和亚洲地区,随着其主要病媒白纹伊蚊的引入,有可能蔓延到温带气候地区。最近在欧洲、加勒比海和美洲都有病例记录。基孔肯雅病毒导致的疾病经常被误诊为登革热,其症状可能危及生命,并可能导致长期衰弱性关节炎。人们一直在研究对急性和慢性症状可能采取的治疗干预措施,但迄今为止,还没有任何一种措施能有效减轻这种疾病的严重程度或持久影响。最近,一种前景看好的候选疫苗已加速获得批准,这表明了针对这种新出现的全球健康威胁采取补救措施的重要性。然而,治疗基孔肯雅病和其他蚊媒病毒疾病的干预措施亟待出台,但仍然遥遥无期。通过人类旅行和商业活动从流行地区传播的风险越来越大,再加上缺乏疫苗或经批准的治疗方法,使得世界上很大一部分人口面临着感染这种疾病的风险。在本报告中,我们探讨了在感染基孔肯雅病毒的细胞中使用特异性 On/oFf 适配器肝炎三角洲病毒 Ribozymes 作为抗病毒药物的可能性。我们获得的结果表明,使用这些核酶分子作为抗病毒疗法不仅可以治疗基孔肯雅病毒,还可能治疗其他病毒。
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引用次数: 0
Medical Mistrust on Prostate Cancer Screening: A mixed method study among African Americans, Caribbean immigrants and African immigrants. 前列腺癌筛查中的医疗不信任:一项针对非裔美国人、加勒比移民和非洲移民的混合方法研究。
Pub Date : 2024-08-01 Epub Date: 2024-08-31 DOI: 10.18103/mra.v12i8.5727
Malika Nipher, Roberts Lisa, Alemi Qais, Casiano Carlos A, Montgomery Susanne

Objectives: The contribution of medical mistrust to healthcare utilization delays has been gaining increasing attention. However, few studies have examined these associations among subgroups of Black men (African Americans, Caribbean, and African immigrants) in relation to prostate cancer (PCa). This study addresses this gap by assessing how medical mistrust affects PCa screening behavior and to further understand perceptions of medical mistrust among subgroups of Black men.

Methods: This research employs a mixed-methods approach comprising two distinct phases. In Phase 1, a cross-sectional examination was conducted to evaluate the influence of medical mistrust toward healthcare organizations on prostate cancer screening among 498 Black men. In Phase 2, a qualitative investigation was undertaken to delve into the nuances of medical mistrust through six focus groups (n=51) and ten key informant interviews (n=10). Logistic regression and grounded theory methods were employed for data analysis.

Results: Quantitative findings unveiled disparities in mistrust among subgroups, with Caribbean immigrants exhibiting higher levels of medical mistrust. Nevertheless, individuals with a family history of PCa showed elevated likelihoods of undergoing screening, despite mistrust. Qualitative results revealed 1) differences in reasons for medical mistrust among Black subgroups, 2) cultural perceptions which influence medical mistrust and medical care seeking, 3) lack of education in relation to PCa that contributes to medical mistrust, 4) negative past experiences and poor provider communication contribute, and 5) when PCa directly affected one's life, either personally or within the family, there was a recognized importance placed on monitoring one's risk despite mistrust.

Conclusion: While medical mistrust may not significantly deter healthcare utilization among individuals with a family history or diagnosis of PCa, it underscores the variability of medical mistrust and its underlying reasons among different Black subgroups.

目的:医疗不信任对医疗保健使用延迟的影响日益受到关注。然而,很少有研究对黑人男性亚群(非裔美国人、加勒比海人和非洲移民)在前列腺癌(PCa)方面的这些关联进行研究。本研究通过评估医疗不信任如何影响 PCa 筛查行为来弥补这一空白,并进一步了解黑人男性亚群对医疗不信任的看法:本研究采用混合方法,包括两个不同的阶段。在第一阶段,研究人员对 498 名黑人男性进行了横断面调查,评估他们对医疗机构的医疗不信任对前列腺癌筛查的影响。在第二阶段,通过六个焦点小组(人数=51)和十个关键信息提供者访谈(人数=10)进行定性调查,深入了解医疗不信任的细微差别。数据分析采用了逻辑回归和基础理论方法:定量研究结果显示,不同亚群体之间的不信任程度存在差异,加勒比移民对医疗的不信任程度更高。然而,尽管存在不信任,有 PCa 家族史的人接受筛查的可能性仍然较高。定性研究结果显示:1)黑人亚群体对医疗不信任的原因存在差异;2)文化观念影响了医疗不信任和就医;3)缺乏与 PCa 相关的教育导致了医疗不信任;4)过去的负面经历和医疗服务提供者沟通不畅导致了医疗不信任;5)当 PCa 直接影响到个人或家庭的生活时,尽管存在不信任,但人们仍然认识到监测自身风险的重要性:结论:虽然医疗不信任可能不会严重阻碍有 PCa 家族史或确诊 PCa 的人利用医疗服务,但它强调了不同黑人亚群之间医疗不信任的差异性及其根本原因。
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引用次数: 0
Linking alcohol use to Alzheimer's disease: Interactions with aging and APOE along immune pathways. 将饮酒与阿尔茨海默病联系起来:与衰老和 APOE 沿免疫途径的相互作用。
Pub Date : 2024-08-01 Epub Date: 2024-08-31 DOI: 10.18103/mra.v12i8.5228
Mollie Monnig, Krish Shah

Although it is known that APOE genotype is the strongest genetic risk factor for late-onset Alzheimer's disease, development is a multifactorial process. Alcohol use is a contributor to the epidemic of Alzheimer's disease and related dementias in the US and globally, yet mechanisms are not fully understood. Carriers of the APOE ε4 allele show elevated risk of dementia in relation to several lifestyle factors, including alcohol use. In this review, we describe how alcohol interacts with APOE genotype and aging with potential implications for Alzheimer's disease promotion. Age-related immune senescence and "inflammaging" (i.e., low-grade inflammation associated with aging) are increasingly recognized as contributors to age-related disease. We focus on three immune pathways that are likely contributors to Alzheimer's disease development, centering on alcohol and APOE genotype interactions, specifically: 1) microbial translocation and immune activation, 2) the senescence associated secretory phenotype, and 3) neuroinflammation. First, microbial translocation, the unphysiological movement of gut products into systemic circulation, elicits a proinflammatory response and increases with aging, with proposed links to Alzheimer's disease. Second, the senescence associated secretory phenotype is a set of intercellular signaling factors, e.g., proinflammatory cytokines and chemokines, growth regulators, and proteases, that drives cellular aging when senescent cells remain metabolically active. The senescence associated secretory phenotype can drive development of aging-diseases such as Alzheimer's disease. Third, neuroinflammation occurs via numerous mechanisms such as microglial activation and is gaining recognition as an etiological factor in the development of Alzheimer's disease. This review focuses on interactions of alcohol with APOE genotype and aging along these three pathways that may promote Alzheimer's disease. Further research on these processes may inform development of strategies to prevent onset and progression of Alzheimer's disease and to delay associated cognitive decline.

众所周知,APOE 基因型是晚发性阿尔茨海默病最主要的遗传风险因素,但阿尔茨海默病的发病是一个多因素过程。在美国和全球范围内,饮酒是导致阿尔茨海默病和相关痴呆症流行的一个因素,但其机制尚未完全明了。APOE ε4等位基因携带者患痴呆症的风险升高与包括饮酒在内的多种生活方式因素有关。在这篇综述中,我们将介绍酒精如何与 APOE 基因型和衰老相互作用,并对阿尔茨海默病的诱发产生潜在影响。与年龄相关的免疫衰老和 "炎症"(即与衰老相关的低度炎症)越来越被认为是导致老年性疾病的因素。我们以酒精和 APOE 基因型的相互作用为中心,重点研究可能导致阿尔茨海默病发展的三种免疫途径,具体包括1)微生物转位和免疫激活;2)衰老相关分泌表型;3)神经炎症。首先,微生物转位,即肠道产物非生理性地进入全身循环,会引起促炎症反应,并随着年龄的增长而增加,据说与阿尔茨海默病有关。其次,衰老相关分泌表型是一组细胞间信号传导因子,如促炎细胞因子和趋化因子、生长调节因子和蛋白酶,当衰老细胞保持新陈代谢活跃时,它们会推动细胞衰老。与衰老相关的分泌表型可导致阿尔茨海默病等衰老性疾病的发生。第三,神经炎症通过多种机制发生,如小胶质细胞活化,并逐渐被认为是阿尔茨海默病发病的病因之一。本综述重点探讨了酒精与 APOE 基因型和衰老在这三种可能促进阿尔茨海默病的途径上的相互作用。对这些过程的进一步研究可为制定预防阿尔茨海默病的发生和发展以及延缓相关认知能力衰退的策略提供参考。
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引用次数: 0
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