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The US Dental Insurance System Prevents Care for the Whole Person 美国牙科保险制度阻碍了对整个人的护理
Pub Date : 2022-10-18 DOI: 10.52504/001c.38809
M. Rock
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引用次数: 0
Curative Measures for Cystic Fibrosis: A Perspective on Current Stem Cell–Based, Gene, and Small Molecule Therapies 囊性纤维化的治疗措施:当前基于干细胞、基因和小分子治疗的观点
Pub Date : 2022-10-10 DOI: 10.52504/001c.38728
P. Ajilore, Henry Y. Yang, Anastassia Kerasidis, R. Castro
Cystic fibrosis (CF), which is caused by a defect or deficiency in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, continues to be a life-limiting multiorgan disease with severe phenotypic manifestations in affected patients. Current approaches to CF therapy have advanced far beyond symptomatic treatment, targeting the aberrant CFTR for therapeutic results. Novel small molecule treatments, or CF modulators, were the first to significantly improve the quality of life for patients with CF. These low-molecular-weight drugs can easily traverse the cell membrane and effect transcriptive changes in cells, albeit only for those with the specific mutations addressed by the drugs. However, other stem cell–based treatments, such as mesenchymal stromal cell therapy or induced pluripotent stem cell therapy, and gene therapies, such as CRISPR/Cas9 and viral vectors, are being researched as potential mutation-independent cures. These therapies have yet to progress to clinical trials, but their efficacies in various CF models prove their promise as future treatment options and potential cures. In this review, 3 potential contemporary therapies for CF and their current statuses and trajectories as clinical tools are discussed.
囊性纤维化(CF)是由囊性纤维化跨膜传导调节因子(CFTR)基因缺陷或缺乏引起的,是一种限制生命的多器官疾病,在受影响的患者中具有严重的表型表现。目前的CF治疗方法已经远远超出了对症治疗,针对异常CFTR的治疗结果。新颖的小分子治疗,或CF调节剂,是第一个显著改善CF患者生活质量的药物。这些低分子量药物可以很容易地穿过细胞膜,影响细胞的转录变化,尽管仅适用于那些具有特定突变的药物。然而,其他基于干细胞的治疗,如间充质基质细胞治疗或诱导多能干细胞治疗,以及基因治疗,如CRISPR/Cas9和病毒载体,正在研究作为潜在的不依赖突变的治疗方法。这些疗法尚未进入临床试验阶段,但它们在各种CF模型中的疗效证明了它们作为未来治疗选择和潜在治愈方法的前景。在这篇综述中,讨论了CF的3种潜在的当代治疗方法及其作为临床工具的现状和发展轨迹。
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引用次数: 0
Incorporating Equity Into Maternal Telehealth 将公平纳入孕产妇远程保健
Pub Date : 2022-08-31 DOI: 10.52504/001c.37490
Sabrina Movitz, R. Mayer, Alison Dingwall
The US maternal health crisis continues to disproportionately affect economically and socially marginalized pregnant and postpartum people. Meanwhile, telehealth has boomed in popularity due to the coronavirus pandemic and has been lauded as a potential tool to address certain social determinants of health (SDOHs) such as transportation and rurality. While telehealth shows promise for obstetric care delivery, more research is needed to assess accessibility and outcomes in diverse populations. This commentary outlines key areas for health care providers and researchers to advance maternal health equity through telehealth by addressing individual patient needs, investing in telehealth care delivery, using electronic health record data to identify demographic trends, and conducting equity-centered research focused on SDOHs for pregnant and postpartum people. While we use pregnant and postpartum people where possible here to recognize that not all pregnant people identify as women, we occasionally use women and maternal to reflect terminology used in federal, state, and local data.1 Additionally, we use the term telehealth in accordance with the definition by the US Department of Health and Human Services.2 *Approved for Public Release; Distribution Unlimited. Public Release Case Number 22-1455. ©2022 The MITRE Corporation. ALL RIGHTS RESERVED*
美国孕产妇健康危机继续不成比例地影响经济和社会边缘化的孕妇和产后人群。与此同时,由于冠状病毒大流行,远程医疗越来越受欢迎,并被誉为解决交通和农村等某些健康社会决定因素(SDOHs)的潜在工具。虽然远程保健显示了产科护理提供的前景,但需要更多的研究来评估不同人群的可及性和结果。本评论概述了卫生保健提供者和研究人员通过远程保健促进孕产妇保健公平的关键领域,包括解决患者的个人需求,投资于远程保健服务,使用电子健康记录数据确定人口趋势,以及开展以公平为中心的研究,重点关注孕妇和产后患者的sdos。虽然我们在这里尽可能使用孕妇和产后人员,以认识到并非所有孕妇都被认为是女性,但我们偶尔使用妇女和产妇来反映联邦、州和地方数据中使用的术语此外,我们根据美国卫生和人类服务部的定义使用术语远程医疗。2 *批准公开发布;无限的分布。公开发布案例号22-1455。©2022米特公司。版权所有*
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引用次数: 0
A Medical Student’s Change of Heart 一个医科学生的变心
Pub Date : 2022-08-31 DOI: 10.52504/001c.37488
Evan Czulada
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引用次数: 0
Medfluencing: A New Role for Physicians in the Age of Tiktok medinfluencing:抖音时代医生的新角色
Pub Date : 2022-07-22 DOI: 10.52504/001c.34633
M. Rao
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引用次数: 1
Integrating Pharmacogenomics Into Treatments: Rationales, Current Challenges, and Future Directions 将药物基因组学整合到治疗中:基本原理、当前挑战和未来方向
Pub Date : 2022-07-22 DOI: 10.52504/001c.37021
Jingyue Wu
Pharmacogenomics is a novel therapeutic concept that essentially focuses on how genes affect the body’s response to different medications. Although it has the potential to revolutionize conventional clinical approaches, the actual implementations in daily practice are not as common or as easy as scientists and physicians had hoped. The disease and cancer management of patients is still very difficult due to the significant interindividual differences in the therapeutic responses observed in clinical practice. Therefore, the goal of this article is to discuss the rationales, challenges, and limitations of pharmacogenomics by analyzing several studies written by experts in diverse fields. Moreover, this article also discusses potential solutions to overcome those challenges and limitations, as well as potential future directions.
药物基因组学是一种新的治疗概念,主要关注基因如何影响身体对不同药物的反应。尽管它有可能彻底改变传统的临床方法,但在日常实践中的实际实施并不像科学家和医生所希望的那样普遍或容易。由于在临床实践中观察到的治疗反应存在显着的个体差异,因此患者的疾病和癌症管理仍然非常困难。因此,本文的目的是通过分析不同领域专家撰写的几项研究来讨论药物基因组学的基本原理、挑战和局限性。此外,本文还讨论了克服这些挑战和限制的潜在解决方案,以及潜在的未来方向。
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引用次数: 0
Uveal Melanoma 葡萄膜黑色素瘤
Pub Date : 2022-07-22 DOI: 10.52504/001c.36973
Dylan Sadowsky, K. Delijani, J. Lim, Matthew Cabrera
Uveal melanoma, a malignant proliferation of melanocytes in the uvea, is the most common primary tumor of the eye in adults. The purpose of this review is to discuss the risk factors, clinical presentation, diagnosis, prognosis, and management, while providing information about novel viewpoints and tools for diagnosis and treatment of uveal melanoma. Blue-light exposure, BAP1 polymorphisms, complete monosomy 3, and history of ocular melanocytosis are the greatest risk factors for the development of uveal melanoma. Uveal melanoma can first present either on routine eye exam or upon presentation with flashes, floaters, and visual field defects. Diagnosis of uveal melanoma is made with anterior segment ocular coherence tomography or ultrasound biomicroscopy. Fine-needle biopsy of the lesion often follows diagnosis, with gene expression profiling being the best prognostic indicator for uveal melanoma. The gold standard for treatment of uveal melanoma is plaque brachytherapy. Other treatment possibilities for uveal melanoma include enucleation, charged-particle radiation therapy, transpupillary thermotherapy and photodynamic thermotherapy. Uveal melanoma may be fatal if untreated and subsequently metastasizes. Hopefully, earlier detection methods including the use of circulating tumor cells, circulating tumor DNA, and circulating MicroRNA and subsequent treatment using novel targeted therapies like high-intensity focused ultrasound, iontophoresis and electrochemotherapy would be crucial to improving prognosis in the future.
葡萄膜黑色素瘤是葡萄膜中黑色素细胞的恶性增殖,是成人眼睛最常见的原发性肿瘤。本文旨在探讨葡萄膜黑色素瘤的危险因素、临床表现、诊断、预后和治疗,同时为葡萄膜黑色素瘤的诊断和治疗提供新的观点和工具。蓝光暴露、BAP1多态性、完整单体3和眼部黑色素细胞增多史是葡萄膜黑色素瘤发生的最大危险因素。葡萄膜黑色素瘤可以在常规眼科检查时首次出现,也可以出现闪光、飞蚊症和视野缺陷。葡萄膜黑色素瘤的诊断是通过前段眼相干断层扫描或超声生物显微镜。病灶的细针活检通常在诊断后进行,基因表达谱是葡萄膜黑色素瘤的最佳预后指标。治疗葡萄膜黑色素瘤的金标准是斑块近距离治疗。葡萄膜黑色素瘤的其他治疗方法包括去核、带电粒子放射治疗、上膜热疗法和光动力热疗法。葡萄膜黑色素瘤如果不治疗并随后转移可能是致命的。希望早期的检测方法,包括使用循环肿瘤细胞、循环肿瘤DNA和循环MicroRNA,以及随后使用新型靶向治疗方法,如高强度聚焦超声、离子导入和电化学治疗,将对未来改善预后至关重要。
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引用次数: 0
Stargardt Disease 黄斑变性疾病
Pub Date : 2022-07-22 DOI: 10.52504/001c.36966
K. Delijani, Dylan Sadowsky, Kahlo Baniadam, D. Popovsky, W. Davis
Stargardt disease is a slowly progressing macular dystrophy with an onset of disease most commonly in children and young adults. Numerous genes have been found to be associated with this disease, with variants in the retina specific ATP- binding cassette transporter (ABCA4) gene being most common. Each variant may have distinct clinical features, however, patients generally experience bilateral central vision loss and poor visual acuity ranging from 20/70 to 20/200. Diagnosis is often made through clinical presentation and may be assisted by fluorescein angiography (FA), spectral domain optical coherence tomography (OCT), fundus autofluorescence (FAF) or electrophysiological assessment. Currently, there are multiple classification systems of Stargardt disease that include Fishman STGD classification system, groupings due to electroretinography (ERG) findings, and types based on FAF imaging. Though there are currently no clinically proven treatments for Stargardt disease, physicians often recommend patients avoid direct sunlight, smoking cigarettes, and excessive intake of vitamin A. Potential treatments currently under investigation include strategies using gene replacement therapy, stem cell therapy, and pharmacologic agents. The purpose of this paper is to review the current knowledge of the genetics, classifications, and treatments of Stargardt disease, while underscoring the need for further research in potential treatment routes.
Stargardt病是一种进展缓慢的黄斑营养不良,发病最常见于儿童和年轻人。许多基因被发现与这种疾病有关,视网膜特异性ATP结合盒转运体(ABCA4)基因的变异是最常见的。每种变体可能具有不同的临床特征,然而,患者通常会出现双侧中央视力丧失和视力差,视力范围在20/70至20/200之间。诊断通常通过临床表现,并可通过荧光素血管造影(FA),光谱域光学相干断层扫描(OCT),眼底自身荧光(FAF)或电生理评估辅助。目前,Stargardt病有多种分类系统,包括Fishman STGD分类系统,根据视网膜电图(ERG)结果进行分组,以及根据FAF成像进行分型。虽然目前尚无临床证实的治疗Stargardt病的方法,但医生经常建议患者避免阳光直射、吸烟和过量摄入维生素a。目前正在研究的潜在治疗方法包括使用基因替代疗法、干细胞疗法和药物制剂。本文的目的是回顾目前对Stargardt病的遗传学,分类和治疗的认识,同时强调需要进一步研究潜在的治疗途径。
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引用次数: 29
Slow Burn: The Impact of Language Barriers on My Father’s Burn Unit Hospitalization 慢烧伤:语言障碍对我父亲的烧伤住院治疗的影响
Pub Date : 2022-07-22 DOI: 10.52504/001c.36968
Lisa Gong
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引用次数: 0
Music Therapy: A Necessary Addition to the Treatment of Neurodegenerative Disorders? 音乐疗法:神经退行性疾病治疗的必要补充?
Pub Date : 2022-07-22 DOI: 10.52504/001c.34720
Nikash Shankar
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Georgetown Medical Review
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