Yale Journal of Biology and Medicine最新文献

{"title":"Clinical Informatics in Critical Care Medicine.","authors":"Girish N Nadkarni, Ankit Sakhuja","doi":"10.59249/WTTU3055","DOIUrl":"10.59249/WTTU3055","url":null,"abstract":"<p><p>Continuous monitoring and treatment of patients in intensive care units generates vast amounts of data. Critical Care Medicine clinicians incorporate this continuously evolving data to make split-second, life or death decisions for management of these patients. Despite the abundance of data, it can be challenging to consider every accessible data point when making the quick decisions necessary at the point of care. Consequently, Clinical Informatics offers a natural partnership to improve the care for critically ill patients. The last two decades have seen a significant evolution in the role of Clinical Informatics in Critical Care Medicine. In this review, we will discuss how Clinical Informatics improves the care of critically ill patients by enhancing not only data collection and visualization but also bedside medical decision making. We will further discuss the evolving role of machine learning algorithms in Clinical Informatics as it pertains to Critical Care Medicine.</p>","PeriodicalId":48617,"journal":{"name":"Yale Journal of Biology and Medicine","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2023-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/61/1f/yjbm_96_3_397.PMC10524812.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41148298","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"工程技术","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Recurrent Mutation in Growth Hormone Receptor (<i>GHR</i>) Gene Underlying Laron-type Dwarfism in a Pakistani Family.","authors":"Rana Muhammad Kamran Shabbir,&nbsp;Gökhan Nalbant,&nbsp;Qamar Zaman,&nbsp;Aslıhan Tolun,&nbsp;Sajid Malik,&nbsp;Sara Mumtaz","doi":"10.59249/TCAA2040","DOIUrl":"https://doi.org/10.59249/TCAA2040","url":null,"abstract":"<p><p>Laron syndrome (LS) is a rare autosomal recessively segregating disorder of severe short stature. The condition is characterized by short limbs, delayed puberty, hypoglycemia in infancy, and obesity. Mutations in growth hormone receptor (<i>GHR</i>) have been implicated in LS; hence, it is also known as growth hormone insensitivity syndrome (MIM-262500). Here we represent a consanguineous Pakistani family in which three siblings were afflicted with LS. Patients had rather similar phenotypic presentations marked with short stature, delayed bone age, limited extension of elbows, truncal obesity, delayed puberty, childish appearance, and frontal bossing. They also had additional features such as hypo-muscularity, early fatigue, large ears, widely-spaced breasts, and attention deficit behavior, which are rarely reported in LS. The unusual combination of the features hindered a straightforward diagnosis and prompted us to first detect the regions of shared homozygosity and subsequently the disease-causing variant by next generation technologies, like SNP genotyping and exome sequencing. A homozygous pathogenic variant c.508G>C (p.(Asp170His)) in <i>GHR</i> was detected. The variant is known to be implicated in LS, supporting the molecular diagnosis of LS. Also, we present detailed clinical, hematological, and hormonal profiling of the siblings.</p>","PeriodicalId":48617,"journal":{"name":"Yale Journal of Biology and Medicine","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2023-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/a6/2a/yjbm_96_3_313.PMC10524814.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41166905","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"工程技术","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Artificial Intelligence to Improve Patient Understanding of Radiology Reports.","authors":"Kanhai Amin, Pavan Khosla, Rushabh Doshi, Sophie Chheang, Howard P Forman","doi":"10.59249/NKOY5498","DOIUrl":"10.59249/NKOY5498","url":null,"abstract":"<p><p>Diagnostic imaging reports are generally written with a target audience of other providers. As a result, the reports are written with medical jargon and technical detail to ensure accurate communication. With implementation of the 21st Century Cures Act, patients have greater and quicker access to their imaging reports, but these reports are still written above the comprehension level of the average patient. Consequently, many patients have requested reports to be conveyed in language accessible to them. Numerous studies have shown that improving patient understanding of their condition results in better outcomes, so driving comprehension of imaging reports is essential. Summary statements, second reports, and the inclusion of the radiologist's phone number have been proposed, but these solutions have implications for radiologist workflow. Artificial intelligence (AI) has the potential to simplify imaging reports without significant disruptions. Many AI technologies have been applied to radiology reports in the past for various clinical and research purposes, but patient focused solutions have largely been ignored. New natural language processing technologies and large language models (LLMs) have the potential to improve patient understanding of their imaging reports. However, LLMs are a nascent technology and significant research is required before LLM-driven report simplification is used in patient care.</p>","PeriodicalId":48617,"journal":{"name":"Yale Journal of Biology and Medicine","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2023-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/02/b7/yjbm_96_3_407.PMC10524809.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41174169","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"工程技术","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"ChatGPT and the Future of Journal Reviews: A Feasibility Study.","authors":"Som Biswas, Dushyant Dobaria, Harris L Cohen","doi":"10.59249/SKDH9286","DOIUrl":"10.59249/SKDH9286","url":null,"abstract":"&lt;p&gt;&lt;p&gt;The increasing volume of research submissions to academic journals poses a significant challenge for traditional peer-review processes. To address this issue, this study explores the potential of employing ChatGPT, an advanced large language model (LLM), developed by OpenAI, as an artificial intelligence (AI) reviewer for academic journals. By leveraging the vast knowledge and natural language processing capabilities of ChatGPT, we hypothesize it may be possible to enhance the efficiency, consistency, and quality of the peer-review process. This research investigated key aspects of integrating ChatGPT into the journal review workflow. We compared the critical analysis of ChatGPT, acting as an AI reviewer, to human reviews for a single published article. Our methodological framework involved subjecting ChatGPT to an intricate examination, wherein its evaluative acumen was juxtaposed against human-authored reviews of a singular published article. As this is a feasibility study, one article was reviewed, which was a case report on scurvy. The entire article was used as an input into ChatGPT and commanded it to \"Please perform a review of the following article and give points for revision.\" Since this was a case report with a limited word count the entire article could fit in one chat box. The output by ChatGPT was then compared with the comments by human reviewers. Key performance metrics, including precision and overall agreement, were judiciously and subjectively measured to portray the efficacy of ChatGPT as an AI reviewer in comparison to its human counterparts. The outcomes of this rigorous analysis unveiled compelling evidence regarding ChatGPT's performance as an AI reviewer. We demonstrated that ChatGPT's critical analyses aligned with those of human reviewers, as evidenced by the inter-rater agreement. Notably, ChatGPT exhibited commendable capability in identifying methodological flaws, articulating insightful feedback on theoretical frameworks, and gauging the overall contribution of the articles to their respective fields. While the integration of ChatGPT showcased immense promise, certain challenges and caveats surfaced. For example, ambiguities might present with complex research articles, leading to nuanced discrepancies between AI and human reviews. Also figures and images cannot be reviewed by ChatGPT. Lengthy articles need to be reviewed in parts by ChatGPT as the entire article will not fit in one chat/response. The benefits consist of reduction in time needed by journals to review the articles submitted to them, as well as an AI assistant to give a different perspective about the research papers other than the human reviewers. In conclusion, this research contributes a groundbreaking foundation for incorporating ChatGPT into the pantheon of journal reviewers. The delineated guidelines distill key insights into operationalizing ChatGPT as a proficient reviewer within academic journal frameworks, paving the way for a more eff","PeriodicalId":48617,"journal":{"name":"Yale Journal of Biology and Medicine","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2023-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/1c/fa/yjbm_96_3_415.PMC10524821.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41172019","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"工程技术","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Racial Disparities in Invasive ICU Treatments Among Septic Patients: High Resolution Electronic Health Records Analysis from MIMIC-IV.","authors":"Sara Mohammed,&nbsp;João Matos,&nbsp;Matthieu Doutreligne,&nbsp;Leo Anthony Celi,&nbsp;Tristan Struja","doi":"10.59249/WDJI8829","DOIUrl":"10.59249/WDJI8829","url":null,"abstract":"<p><p><b>Background</b>: Low-resolution administrative databases can give biased results, whereas high-resolution, time-stamped variables from clinical databases like MIMIC-IV might provide nuanced insights. We evaluated racial-ethnic disparities in life-sustaining ICU-treatments (Invasive Mechanical Ventilation (IMV), Renal Replacement Therapy (RRT), and Vasopressors (VP)) among patients with sepsis. <b>Methods</b>: In this observational retrospective cohort study, patients fulfilling sepsis-3 criteria were categorized by treatment assignment within the first 4 days. The outcomes were treatment allocations. The likelihood of receiving treatment was calculated by race-ethnicity (Racial-ethnic group (REG) or White group (WG)) using 5-fold sub-sampling nested logistic regression and XGBoost. <b>Results</b>: In 23,914 admissions, 82% were White, 42% were women. REG were less likely to receive IMV across all eligibility days (day 1 odds ratio (OR) 0.87, 95% confidence interval (CI) 0.83-0.94, day 4 OR 0.80, 95% CI 0.72 - 0.87). There were no differences in RRT (day 1 OR 1.00, 95% CI 0.96-1.09, day 4 OR 1.00, 95% CI 0.94-1.06). REG were also less likely to be treated with VP at days 1 to 3 (day 1 OR 0.87, 95% CI 0.76-0.94), but not at day 4 (OR 0.95, 95% CI 0.87-1.01). These findings remained robust when relaxing eligibility criteria for treatment allocation. <b>Conclusion</b>: Our findings reveal significant disparities in the use of invasive life-saving ICU treatments among septic patients from racial and ethnic minority backgrounds, particularly with respect to IMV and VP use. These disparities underscore not only the need to address inequality in critical care settings, but also highlight the importance of high-resolution data.</p>","PeriodicalId":48617,"journal":{"name":"Yale Journal of Biology and Medicine","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2023-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/78/ba/yjbm_96_3_293.PMC10524813.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41166958","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"工程技术","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparative Effectiveness Analysis of Lumpectomy and Mastectomy for Elderly Female Breast Cancer Patients: A Deep Learning-based Big Data Analysis.","authors":"Jiping Wang, Shunqin Zhang, Huangdi Yi, Shuangge Ma","doi":"10.59249/IAJU7580","DOIUrl":"10.59249/IAJU7580","url":null,"abstract":"<p><p><b>Objectives</b>: To evaluate the comparative effectiveness of treatments, a randomized clinical trial remains the gold standard but can be challenged by a high cost, a limited sample size, an inability to fully reflect the real world, and feasibility concerns. The objective is to showcase a big data approach that takes advantage of large electronic medical record (EMR) data to emulate clinical trials. To overcome the limitations of regression analysis, a deep learning-based analysis pipeline was developed. <b>Study Design and Setting</b>: Lumpectomy (breast-conserving surgery) and mastectomy are the two most commonly used surgical procedures for early-stage female breast cancer patients. An emulation trial was designed using the Surveillance, Epidemiology, and End Results (SEER)-Medicare data to evaluate their relative effectiveness in overall survival. The analysis pipeline consisted of a propensity score step, a weighted survival analysis step, and a bootstrap inference step. <b>Results</b>: A total of 65,997 subjects were enrolled in the emulated trial, with 50,704 and 15,293 in the lumpectomy and mastectomy arms, respectively. The two surgery procedures had comparable effects in terms of overall survival (survival year change = 0.08, 95% confidence interval (CI): -0.08, 0.25) for the elderly SEER-Medicare early-stage female breast cancer patients. <b>Conclusion</b>: This study demonstrated the power of \"mining large EMR data + deep learning-based analysis,\" and the proposed analysis strategy and technique can be potentially broadly applicable. It provided convincing evidence of the comparative effectiveness of lumpectomy and mastectomy.</p>","PeriodicalId":48617,"journal":{"name":"Yale Journal of Biology and Medicine","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2023-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/0a/be/yjbm_96_3_327.PMC10524818.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41156052","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"工程技术","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Autonomy of the Living Cell, Driving Force of Evolution","authors":"Ford Brian J","doi":"10.17352/jbm.000040","DOIUrl":"https://doi.org/10.17352/jbm.000040","url":null,"abstract":"Conventional biologists and medical doctors conceptualize the body as divided into cells. It is construed as a bag of organs, with one of everything down the center, and two of everything down the sides. My alternative view is the body as a community of autonomous living cells whose choreographed cohesion gives rise to the phenomenon we know as the body. Science reduces multicellular life to the biochemical interplay of its components, and systems biology to a concatenation of subunits acting according to the laws of chemistry and physics. Current studies of living cells concentrate on the subcellular components since mitochondria were designated the “powerhouse of the cell” though they can be seen to move, migrate, and respond to stimuli. Although we understand cells in communities and the organelles within each cell, we ignore the lives lived by individual cells as they conduct themselves in heuristic (decision-making) and in motivating evolutionary progress. Here we review original observations on the behavior of living cells and conclude that they are essential drivers of coordinated community cohesion.","PeriodicalId":48617,"journal":{"name":"Yale Journal of Biology and Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136193777","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"工程技术","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Synthesis, characterization, anti-cancer evaluation, and DNA-binding study of new bay-substituted perylene derivatives","authors":"Abourajab Arwa, Mostafanejad S Melika, Dinleyici Meltem, Al-Khateeb Basma, Kunter Imge, Tuzmen Sukru, Icil Huriye","doi":"10.17352/jbm.000039","DOIUrl":"https://doi.org/10.17352/jbm.000039","url":null,"abstract":"Two new perylene derivatives 1,7-di(3,5-diamino-pyrimidoxyl) perylene-3,4,9,10- tetracarboxylic acid bisanhydride (4) and 1,7-di(2-[3-[(4-amino-2-methylpyrimidin-5-yl)methyl]-4-methyl-1,3-thiazol-3-ium-5-yl]) ethoxyperylene-3,4,9,10-tetracarboxylic bisanhydride (6) have been synthesized. We aimed to study their interactions with G-quadruplex (G4) structures as potent G4 ligands and telomerase inhibitors. We used a PCR-amplified guanine-rich region from the human beta-globin gene, oligonucleotide from human telomeres (a-coreTT), an oncogene (c-kit), and SK-HEP-1 adenocarcinoma cells to characterize those compounds’ binding and stabilizing abilities to G4 structures and anti-cancer potential. All results obtained through UV-visible and fluorescence spectroscopies, agarose gel electrophoresis, and MTT assay on SK-HEP-1 adenocarcinoma cells were in good agreement. Compounds 4 and 6 are promising DNA-binding and cytotoxic compounds with a relatively antiproliferative effect on the selected tumour. In all studies, the formal positive charge carrier, compound 6, showed higher activity in terms of anti-cancer effects. These results may help elucidate the feasibility of the perylene derivatives as future chemo-therapeutic agents.","PeriodicalId":48617,"journal":{"name":"Yale Journal of Biology and Medicine","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2023-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81284484","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"工程技术","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Coffee, Citrus, and Alcohol: A Review of What We Drink and How it May Affect our Risk for Skin Cancer.","authors":"Marcelo Paiva, Sara Yumeen, Benjamin J Kahn, Hongmei Nan, Eunyoung Cho, Elie Saliba, Abrar Qureshi","doi":"10.59249/EVKO3455","DOIUrl":"10.59249/EVKO3455","url":null,"abstract":"Climate change and environmental health are closely linked with agriculture and food supply. The environment influences accessibility, quality, and variety of foods and drinks that are available for consumption, which in turn influences population health. A growing area of research is the role of dietary intake of nutrients and how they may influence risk for skin cancer. In recent years, our group has studied dietary nutrients, particularly those found in commonly consumed beverages, such as those containing caffeine, citrus products, and alcohol, in large prospective cohorts to evaluate how their intake may influence risk for skin cancer. Our data suggest that intake of citrus juices, when consumed around once per day or more, or around 5 to 6 times per week, may be associated with increased risk for both keratinocyte carcinomas (KC) and malignant melanoma (MM). With regards to alcohol consumption, we have found that intake of white wine may be associated with increased risk for both KC and MM, while beer and red wine have not shown such associations. Lastly, our work suggests caffeinated beverages, including coffee, tea, and cola, may be associated with decreased risk for basal cell carcinoma (BCC) and MM. While the associations between food intake and skin cancer development are complex, and remain to be further analyzed in future studies, we hope that our summary may help guide individuals to small changes they may make towards potentially reducing their risk for certain skin cancers.","PeriodicalId":48617,"journal":{"name":"Yale Journal of Biology and Medicine","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/47/74/yjbm_96_2_205.PMC10303256.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9811049","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"工程技术","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Positive Association of Aggression with Ambient Temperature.","authors":"Satbyul Estella Kim, Yoonhee Kim, Masahiro Hashizume, Yasushi Honda, Oka Kazutaka, Yasuaki Hijioka, Ho Kim","doi":"10.59249/RXZX5728","DOIUrl":"10.59249/RXZX5728","url":null,"abstract":"<p><p><b>Background</b>: Relatively little attention has been paid to the potential effects of rising temperatures on changes in human behavior that lead to health and social consequences, including aggression. This study investigated the association between ambient temperature and aggression using assault death data from Seoul, South Korea (1991-2020). <b>Methods</b>: We conducted a time-stratified case-crossover analysis based on conditional logistic regression to control for relevant covariates. The exposure-response curve was explored, and stratified analyses were conducted by season and sociodemographic characteristics. <b>Results</b>: The overall risk of assault deaths significantly increased by 1.4% per 1°C increase in ambient temperature. A positive curvilinear relationship was observed between ambient temperature and assault deaths, which flattened out at 23.6°C during the warm season. Furthermore, risk increases were higher in males, teenagers, and those with the least education. <b>Conclusion</b>: This study highlighted the importance of understanding the impact of rising temperatures on aggression in the context of climate change and public health.</p>","PeriodicalId":48617,"journal":{"name":"Yale Journal of Biology and Medicine","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/b0/df/yjbm_96_2_189.PMC10303254.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9757676","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"工程技术","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}