Yale Journal of Biology and Medicine最新文献

{"title":"Expanding OBSL1 Mutation Phenotype: Disproportionate Short Stature, Barrel Chest, Thoracic Kyphoscoliosis, Hypogonadism, and Hypospadias.","authors":"Mine Koprulu,&nbsp;Rana Muhammad Kamran Shabbir,&nbsp;Sara Mumtaz,&nbsp;Aslıhan Tolun,&nbsp;Sajid Malik","doi":"10.59249/RLAU6003","DOIUrl":"https://doi.org/10.59249/RLAU6003","url":null,"abstract":"<p><p>We present a Pakistani kinship afflicted with a syndrome with features including short stature, reduced sitting height, orofacial symptoms including prominent forehead and thick eyebrows, short and broad thorax, and variable features such as long philtrum, short broad neck, barrel chest, thoracic kyphoscoliosis, hypogonadism, and hypospadias. Phenotypic variation even within different sibships was considerable. The unique combination of the phenotypic characteristics prompted us to determine the shared homozygosity regions in patient genomes and the pathogenic variants by next generation technologies like single nucleotide polymorphism (SNP) genotyping and whole exome sequencing (WES). Through these analyses, we detected homozygous <i>OBSL1</i> c.848delG (p.Gly283AlafsTer54) as the causal variant. Biallelic variants in <i>OBSL1</i> are known to cause Three M Syndrome 2 (3M2), a rare disorder of growth retardation with characteristic facial dysmorphism and musculoskeletal abnormalities. Affected members of the family do not have the 3M2 hallmark features of dolichocephaly, hypoplastic midface, anteverted nares, low nasal bridge, pectus excavatum, sacral hyperlordosis, spina bifida occulta, anterior wedging of thoracic vertebrae, prominent heels, and prominent talus. Moreover, they have some variable features not typical for the syndrome such as round face, disproportionate short stature, barrel chest, thoracic kyphoscoliosis, hypogonadism, and hypospadias. Our study facilitated genetic diagnosis in the family, expanded the clinical phenotype for 3M2, and unraveled the considerable clinical variation within the same kinship. We conclude that unbiased molecular analyses such as WES should be more integrated into healthcare, particularly in populations with high parental consanguinity, given the potential of such analyses to facilitate diagnosis.</p>","PeriodicalId":48617,"journal":{"name":"Yale Journal of Biology and Medicine","volume":"96 3","pages":"367-382"},"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/71/d9/yjbm_96_3_367.PMC10524810.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41138066","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":"\"Big Data\" Analyses Underlie Clinical Discoveries at the Aortic Institute.","authors":"Mohammad A Zafar, Bulat A Ziganshin, Yupeng Li, Nicolai P Ostberg, John A Rizzo, Maryann Tranquilli, Sandip K Mukherjee, John A Elefteriades","doi":"10.59249/LNDZ2964","DOIUrl":"10.59249/LNDZ2964","url":null,"abstract":"<p><p>This issue of the <i>Yale Journal of Biology and Medicine</i> (<i>YJBM</i>) focuses on Big Data and precision analytics in medical research. At the Aortic Institute at Yale New Haven Hospital, the vast majority of our investigations have emanated from our large, prospective clinical database of patients with thoracic aortic aneurysm (TAA), supplemented by ultra-large genetic sequencing files. Among the fundamental clinical and scientific discoveries enabled by application of advanced statistical and artificial intelligence techniques on these clinical and genetic databases are the following: <b>From analysis of Traditional \"Big Data\" (Large data sets)</b>. 1. Ascending aortic aneurysms should be resected at 5 cm to prevent dissection and rupture. 2. Indexing aortic size to height improves aortic risk prognostication. 3. Aortic root dilatation is more malignant than mid-ascending aortic dilatation. 4. Ascending aortic aneurysm patients with bicuspid aortic valves do not carry the poorer prognosis previously postulated. 5. The descending and thoracoabdominal aorta are capable of rupture without dissection. 6. Female patients with TAA do more poorly than male patients. 7. Ascending aortic length is even better than aortic diameter at predicting dissection. 8. A \"silver lining\" of TAA disease is the profound, lifelong protection from atherosclerosis. <b>From Modern \"Big Data\" Machine Learning/Artificial Intelligence analysis</b>: 1. Machine learning models for TAA: outperforming traditional anatomic criteria. 2. Genetic testing for TAA and dissection and discovery of novel causative genes. 3. Phenotypic genetic characterization by Artificial Intelligence. 4. Panel of RNAs \"detects\" TAA. Such findings, based on (a) long-standing application of advanced conventional statistical analysis to large clinical data sets, and (b) recent application of advanced machine learning/artificial intelligence to large genetic data sets at the Yale Aortic Institute have advanced the diagnosis and medical and surgical treatment of TAA.</p>","PeriodicalId":48617,"journal":{"name":"Yale Journal of Biology and Medicine","volume":"96 3","pages":"427-440"},"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/f5/65/yjbm_96_3_427.PMC10524815.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41173041","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":"Homozygous Mutations in Thyroid Peroxidase (TPO) in Hypothyroidism with Intellectual Disability, Developmental Delay, and Hearing and Ocular Anomalies in Two Families: Severe Manifestation of Untreated TPO-deficiency Poses a Diagnostic Dilemma.","authors":"Syeda Farwa Naqvi, Esra Yıldız-Bölükbaşı, Muhammad Afzal, Gökhan Nalbant, Sara Mumtaz, Aslıhan Tolun, Sajid Malik","doi":"10.59249/SSRG6507","DOIUrl":"10.59249/SSRG6507","url":null,"abstract":"<p><p>Intellectual disability (ID) involves compromised intellectual, learning and cognitive skills, and behavioral capabilities with reduced psychomotor skills. One of the preventable causes of ID is congenital hypothyroidism (CH), which may be due to biallelic mutations in <i>thyroid peroxidase</i> (<i>TPO</i>). In low- and middle-income countries with no newborn screening programs, CH poses a great risk of ID and long-term morbidity. We report two large Pakistani families with a total of 16 patients afflicted with CH. Detailed clinical and behavioral assessments, SNP-based homozygosity mapping, linkage analysis, and exome sequencing were performed. Initially, affected individuals were referred as suffering ID (in 11 of 16 patients) and developmental delay (in 14). Secondary/associated features were verbal apraxia (in 13), goiter (in 12), short stature (in 11), limb hypotonia (in 14), no pubertal onset (five of 10 of age ≥14 years), high myopia (in eight), muscle cramps (in six), and in some, variable microcephaly and enuresis/encopresis, fits, chronic fatigue, and other behavioral symptoms, which are not characteristics of CH. Molecular genetic analyses led to the discovery of homozygous variants in <i>TPO</i>: novel missense variant c.719A>G (p.Asp240Gly) in family 1 and rare c.2315A>G (p.Tyr772Cys) in family 2. In low-resource countries where neonatal screening programs do not include a CH test, the burden of neurodevelopmental disorders is likely to be increased due to untreated CH. Secondly, in the background of the high prevalence of recessive disorders due to high parental consanguinity, the severe manifestation of <i>TPO</i>-deficiency mimics a wide range of neurological and other presentations posing a diagnostic dilemma.</p>","PeriodicalId":48617,"journal":{"name":"Yale Journal of Biology and Medicine","volume":"96 3","pages":"347-365"},"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/ac/03/yjbm_96_3_347.PMC10524819.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41162193","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":"What Brings You in Today? Sex, Race, Substance Type, and Other Sociodemographic and Health-Related Characteristics Predict if Substance Use is the Main Reason for a Clinical Encounter.","authors":"Natasia S Courchesne-Krak,&nbsp;Carla B Marienfeld,&nbsp;Wayne Kepner","doi":"10.59249/UDRG5942","DOIUrl":"10.59249/UDRG5942","url":null,"abstract":"<p><p><b>Background</b>: Substance-related diagnoses (SRDs) are a common healthcare presentation. This study identified sociodemographic and health-related characteristics associated with having an SRD as the primary reason for a clinical encounter compared to those with an SRD who are treated for other reasons. <b>Methods</b>: Electronic health record (EHR) data on patients with an SRD (n=12,358, ages 18-90) were used to assess if an SRD was the primary reason for a clinical encounter from January 1, 2012-January 1, 2018. Patients were matched on key demographic characteristics at a 1:1 ratio. Adjusting for covariates, odds ratios, and 95% confidence intervals were calculated. <b>Results</b>: In the matched cohort of 8,630, most reported male sex (65.8%), White race (70.0%), and single marital status (62.7%) with a mean age of 47.2 (SD=14.6). Patient reported female sex, Black race, age 70+, married status, and low-income (<$50,000) were associated with a lower likelihood of presenting to care for an SRD as the primary reason for a clinical encounter. A nicotine-, alcohol-, opioid-, or stimulant-related diagnosis was associated with a higher likelihood of presenting to care for an SRD as the primary reason for the clinical visit. <b>Conclusion</b>: This is the first study to investigate whether sociodemographic and health-related characteristics were associated with having an SRD as the primary reason for a clinical encounter. Using rigorous methods, we investigated a unique clinical question adding new knowledge to predictors of patients seeking clinical care. Understanding these predictors can help us better align service provision with population needs and inform new approaches to tailoring care.</p>","PeriodicalId":48617,"journal":{"name":"Yale Journal of Biology and Medicine","volume":"96 3","pages":"277-291"},"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/10/e2/yjbm_96_3_277.PMC10524817.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41136392","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 Stop-gain Variant c.220C>T (p.(Gln74*)) in <i>FLNB</i> Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family.","authors":"Hamna Shahid,&nbsp;Nazish Shakoor,&nbsp;Anisa Bibi,&nbsp;Asma Saleem Qazi,&nbsp;Rida Fatima Saeed,&nbsp;Aqeela Nawaz,&nbsp;Sajid Malik,&nbsp;Sara Mumtaz","doi":"10.59249/UTCP9818","DOIUrl":"https://doi.org/10.59249/UTCP9818","url":null,"abstract":"<p><p>Spondylocarpotarsal synostosis (SCT) syndrome is a very rare and severe form of skeletal dysplasia. The hallmark features of SCT are disproportionate short stature, scoliosis, fusion of carpal and tarsal bones, and clubfoot. Other common manifestations are cleft palate, conductive and sensorineural hearing loss, joint stiffness, and dental enamel hypoplasia. Homozygous variants in <i>FLNB</i> are known to cause SCT. This study was aimed to investigate the phenotypic and genetic basis of unique presentation of SCT syndrome segregating in a consanguineous Pakistani family. Three of the four affected siblings evaluated had severe short stature, short trunk, short neck, kyphoscoliosis, pectus carinatum, and winged scapula. The subjects had difficulty in walking and gait problems and complained of knee pain and backache. Roentgenographic examination of the eldest patient revealed gross anomalies in the axial skeleton including thoracolumbar and cervical fusion of ribs, severe kyphoscoliosis, thoracic and lumbar lordosis, coxa valga, fusion of certain carpals and tarsals, and clinodactyly. The patients had normal faces and lacked other typical features of SCT like cleft palate, conductive and sensorineural hearing loss, joint stiffness, and dental enamel hypoplasia. Whole exome sequencing (WES) of two affected siblings led to the discovery of a rare stop-gain variant c.220C>T (p.(Gln74*)) in exon 1 of the <i>FLNB</i> gene. The variant was homozygous and segregated with the malformation in this family. This study reports extensive phenotypic variability in SCT and expands the mutation spectrum of <i>FLNB</i>.</p>","PeriodicalId":48617,"journal":{"name":"Yale Journal of Biology and Medicine","volume":"96 3","pages":"383-396"},"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/87/cc/yjbm_96_3_383.PMC10524816.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41140085","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":"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":"96 3","pages":"397-405"},"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":"Ophthalmology at the Forefront of Big Data Integration in Medicine: Insights from the IRIS Registry Database.","authors":"Austen N Knapp,&nbsp;Theodore Leng,&nbsp;Ehsan Rahimy","doi":"10.59249/VUPM2510","DOIUrl":"https://doi.org/10.59249/VUPM2510","url":null,"abstract":"<p><p>Ophthalmology stands at the vanguard of incorporating big data into medicine, as exemplified by the integration of The Intelligent Research in Sight (IRIS) Registry. This synergy cultivates patient-centered care, demonstrates real world efficacy and safety data for new therapies, and facilitates comprehensive population health insights. By evaluating the creation and utilization of the world's largest specialty clinical data registry, we underscore the transformative capacity of data-driven medical paradigms, current shortcomings, and future directions. We aim to provide a scaffold for other specialties to adopt big data integration into medicine.</p>","PeriodicalId":48617,"journal":{"name":"Yale Journal of Biology and Medicine","volume":"96 3","pages":"421-426"},"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/32/1f/yjbm_96_3_421.PMC10524808.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41159182","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":"96 3","pages":"313-325"},"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":"96 3","pages":"407-417"},"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":"96 3","pages":"415-420"},"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}