{"title":"The US Dental Insurance System Prevents Care for the Whole Person","authors":"M. Rock","doi":"10.52504/001c.38809","DOIUrl":"https://doi.org/10.52504/001c.38809","url":null,"abstract":"","PeriodicalId":340325,"journal":{"name":"Georgetown Medical Review","volume":"45 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126691097","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}
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.
{"title":"Curative Measures for Cystic Fibrosis: A Perspective on Current Stem Cell–Based, Gene, and Small Molecule Therapies","authors":"P. Ajilore, Henry Y. Yang, Anastassia Kerasidis, R. Castro","doi":"10.52504/001c.38728","DOIUrl":"https://doi.org/10.52504/001c.38728","url":null,"abstract":"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.","PeriodicalId":340325,"journal":{"name":"Georgetown Medical Review","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130435100","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}
{"title":"A Medical Student’s Change of Heart","authors":"Evan Czulada","doi":"10.52504/001c.37488","DOIUrl":"https://doi.org/10.52504/001c.37488","url":null,"abstract":"","PeriodicalId":340325,"journal":{"name":"Georgetown Medical Review","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128184065","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}
{"title":"Medfluencing: A New Role for Physicians in the Age of Tiktok","authors":"M. Rao","doi":"10.52504/001c.34633","DOIUrl":"https://doi.org/10.52504/001c.34633","url":null,"abstract":"","PeriodicalId":340325,"journal":{"name":"Georgetown Medical Review","volume":"44 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133695069","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}
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.
{"title":"Integrating Pharmacogenomics Into Treatments: Rationales, Current Challenges, and Future Directions","authors":"Jingyue Wu","doi":"10.52504/001c.37021","DOIUrl":"https://doi.org/10.52504/001c.37021","url":null,"abstract":"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.","PeriodicalId":340325,"journal":{"name":"Georgetown Medical Review","volume":"5 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131465653","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}
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.
{"title":"Uveal Melanoma","authors":"Dylan Sadowsky, K. Delijani, J. Lim, Matthew Cabrera","doi":"10.52504/001c.36973","DOIUrl":"https://doi.org/10.52504/001c.36973","url":null,"abstract":"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.","PeriodicalId":340325,"journal":{"name":"Georgetown Medical Review","volume":"9 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"117187898","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}
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.
{"title":"Stargardt Disease","authors":"K. Delijani, Dylan Sadowsky, Kahlo Baniadam, D. Popovsky, W. Davis","doi":"10.52504/001c.36966","DOIUrl":"https://doi.org/10.52504/001c.36966","url":null,"abstract":"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.","PeriodicalId":340325,"journal":{"name":"Georgetown Medical Review","volume":"323 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115840676","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}
{"title":"Slow Burn: The Impact of Language Barriers on My Father’s Burn Unit Hospitalization","authors":"Lisa Gong","doi":"10.52504/001c.36968","DOIUrl":"https://doi.org/10.52504/001c.36968","url":null,"abstract":"","PeriodicalId":340325,"journal":{"name":"Georgetown Medical Review","volume":"59 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123682821","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}
{"title":"Music Therapy: A Necessary Addition to the Treatment of Neurodegenerative Disorders?","authors":"Nikash Shankar","doi":"10.52504/001c.34720","DOIUrl":"https://doi.org/10.52504/001c.34720","url":null,"abstract":"","PeriodicalId":340325,"journal":{"name":"Georgetown Medical Review","volume":"53 3 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133846245","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}