Frontiers in Medicine最新文献

{"title":"Evaluation of the review models and approval timelines of authorities participating in the East African Medicine Regulatory Harmonisation initiative: alignment and strategies for moving forward","authors":"Nancy Ngum, Margareth Ndomondo-Sigonda, Rémy Habonimana, Fred Siyoi, Clarisse Irasabwa, Julia Ojukwu, Felchism Apolinary, Andrew Okello, Sabrina Ahmada, Stuart Walker, Sam Salek","doi":"10.3389/fmed.2024.1438041","DOIUrl":"https://doi.org/10.3389/fmed.2024.1438041","url":null,"abstract":"IntroductionMedicines regulatory harmonisation has been embraced by many national regulatory authorities (NRAs) to improve public health through faster availability of safe, high-quality, and effective medical products to patients and enhanced standardisation of technical guidelines and work sharing, leading to reduced cost to pharmaceutical companies. After ten years of implementing regulatory harmonisation by the East African Community Medicines Registration Harmonization (EAC-MRH) initiative, it is now imperative for participating NRAs to rely on each other to minimise duplication of use of limited resources. Major challenges in implementing reliance are the lack of clear registration processes and delays in the approval. The aim of this study was to compare review models, target timelines and data requirements used in assessing applications by EAC-MRH NRAs so as to align and propose strategies for improvement.MethodsA validated questionnaire that standardises and captures review processes was completed by the head of the medicine’s registration division in each of the seven EAC-MRH NRAs. A country report based on the completed questionnaire was developed for each NRA and validated by the heads of the respective authorities.ResultsMost applications received by all countries were for generics except Kenya, which received a significant number of new active substance applications (55 and 53 in 2020 and 2021). Mean approval times for generics using full review varied, with Tanzania’s time declining for the three years. Target timelines for full review for the five countries ranged between 180 calendar days (Tanzania) to the highest 330 days (Zanzibar). The three countries (Kenya, Rwanda and Uganda) utilising the verification review model had a target timeline of 90 days. All six authorities conducted abridged reviews and fast-track assessments through a priority review track. The common technical document format was mandatory for applications in all authorities. The target timeline for key milestones in the review process varied for each country with a few similarities.DiscussionThe study has provided a baseline for review models, target timelines and data requirements utilised in assessing applications for registration by EAC-MRH NRAs. Implementing the recommendations from this study will enable the NRAs to align and improve their registration processes.","PeriodicalId":12488,"journal":{"name":"Frontiers in Medicine","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142266434","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unconscious classification of quantitative electroencephalogram features from propofol versus propofol combined with etomidate anesthesia using one-dimensional convolutional neural network","authors":"Pan Zhou, Haixia Deng, Jie Zeng, Haosong Ran, Cong Yu","doi":"10.3389/fmed.2024.1447951","DOIUrl":"https://doi.org/10.3389/fmed.2024.1447951","url":null,"abstract":"ObjectiveEstablishing a convolutional neural network model for the recognition of characteristic raw electroencephalogram (EEG) signals is crucial for monitoring consciousness levels and guiding anesthetic drug administration.MethodsThis trial was conducted from December 2023 to March 2024. A total of 40 surgery patients were randomly divided into either a propofol group (1% propofol injection, 10 mL: 100 mg) (P group) or a propofol-etomidate combination group (1% propofol injection, 10 mL: 100 mg, and 0.2% etomidate injection, 10 mL: 20 mg, mixed at a 2:1 volume ratio) (EP group). In the P group, target-controlled infusion (TCI) was employed for sedation induction, with an initial effect site concentration set at 5–6 μg/mL. The EP group received an intravenous push with a dosage of 0.2 mL/kg. Six consciousness-related EEG features were extracted from both groups and analyzed using four prediction models: support vector machine (SVM), Gaussian Naive Bayes (GNB), artificial neural network (ANN), and one-dimensional convolutional neural network (1D CNN). The performance of the models was evaluated based on accuracy, precision, recall, and F1-score.ResultsThe power spectral density (94%) and alpha/beta ratio (72%) demonstrated higher accuracy as indicators for assessing consciousness. The classification accuracy of the 1D CNN model for anesthesia-induced unconsciousness (97%) surpassed that of the SVM (83%), GNB (81%), and ANN (83%) models, with a significance level of <jats:italic>p</jats:italic> &amp;lt; 0.05. Furthermore, the mean and mean difference ± standard error of the primary power values for the EP and P groups during the induced period were as follows: delta (23.85 and 16.79, 7.055 ± 0.817, <jats:italic>p</jats:italic> &amp;lt; 0.001), theta (10.74 and 8.743, 1.995 ± 0.7045, <jats:italic>p</jats:italic> &amp;lt; 0.02), and total power (24.31 and 19.72, 4.588 ± 0.7107, <jats:italic>p</jats:italic> &amp;lt; 0.001).ConclusionLarge slow-wave oscillations, power spectral density, and the alpha/beta ratio are effective indicators of changes in consciousness during intravenous anesthesia with a propofol-etomidate combination. These indicators can aid anesthesiologists in evaluating the depth of anesthesia and adjusting dosages accordingly. The 1D CNN model, which incorporates consciousness-related EEG features, represents a promising tool for assessing the depth of anesthesia.Clinical Trial Registration<jats:ext-link>https://www.chictr.org.cn/index.html</jats:ext-link>.","PeriodicalId":12488,"journal":{"name":"Frontiers in Medicine","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142266393","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comprehensive review of Korean Medicine registries 2015–2023","authors":"Soo-Dam Kim, Sunmi Choi, Sungha Kim","doi":"10.3389/fmed.2024.1412053","DOIUrl":"https://doi.org/10.3389/fmed.2024.1412053","url":null,"abstract":"BackgroundDespite the increasing popularity of Korean Medicine (KM), its scientific evidence faces scrutiny. Instead of randomized controlled trials, registries are favored to capture the real world of KM practice due to the difficulties associated with proper control and the holistic nature of the KM approach. This review aimed to examine the KM registries in detail, identify the scope and focus of studies within this field, and assess the research trends.MethodsWe conducted a comprehensive analysis of KM registries listed in trial registration platforms, covering records from their inception until the end of 2023. The selection criteria aimed to include studies focusing on various interventions related to KM, with data extraction focusing on study characteristics and outcomes measured. The analysis utilized descriptive statistics to summarize the findings.ResultsWe identified a steady increase in registry studies (2015, one; 2023, seven). Musculoskeletal disorders were most studied (28%), aligning with patients’ demand. The involvement of 112 primary clinics and Quality of Life (QOL) as the predominant outcome in 14 (66.7%) registries demonstrates the positive impact on patient well-being and the critical role that primary clinics play in KM practice.ConclusionOur findings indicate a heightened interest and commitment to evidence-based KM practices. Future Registries should be implemented on a large scale, incorporating long-term follow-up encompassing primary clinics. This approach would enable a comprehensive evaluation of the effectiveness and safety of KM interventions, as well as offer valuable insights into the influence of KM on chronic conditions and QOL.","PeriodicalId":12488,"journal":{"name":"Frontiers in Medicine","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142266395","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Large language model answers medical questions about standard pathology reports","authors":"Anqi Wang, Jieli Zhou, Peng Zhang, Haotian Cao, Hongyi Xin, Xinyun Xu, Haiyang Zhou","doi":"10.3389/fmed.2024.1402457","DOIUrl":"https://doi.org/10.3389/fmed.2024.1402457","url":null,"abstract":"This study aims to evaluate the feasibility of large language model (LLM) in answering pathology questions based on pathology reports (PRs) of colorectal cancer (CRC). Four common questions (CQs) and corresponding answers about pathology were retrieved from public webpages. These questions were input as prompts for Chat Generative Pretrained Transformer (ChatGPT) (gpt-3.5-turbo). The quality indicators (understanding, scientificity, satisfaction) of all answers were evaluated by gastroenterologists. Standard PRs from 5 CRC patients who received radical surgeries in Shanghai Changzheng Hospital were selected. Six report questions (RQs) and corresponding answers were generated by a gastroenterologist and a pathologist. We developed an interactive PRs interpretation system which allows users to upload standard PRs as JPG images. Then the ChatGPT's responses to the RQs were generated. The quality indicators of all answers were evaluated by gastroenterologists and out-patients. As for CQs, gastroenterologists rated AI answers similarly to non-AI answers in understanding, scientificity, and satisfaction. As for RQ1-3, gastroenterologists and patients rated the AI mean scores higher than non-AI scores among the quality indicators. However, as for RQ4-6, gastroenterologists rated the AI mean scores lower than non-AI scores in understanding and satisfaction. In RQ4, gastroenterologists rated the AI scores lower than non-AI scores in scientificity (<jats:italic>P</jats:italic> = 0.011); patients rated the AI scores lower than non-AI scores in understanding (<jats:italic>P</jats:italic> = 0.004) and satisfaction (<jats:italic>P</jats:italic> = 0.011). In conclusion, LLM could generate credible answers to common pathology questions and conceptual questions on the PRs. It holds great potential in improving doctor-patient communication.","PeriodicalId":12488,"journal":{"name":"Frontiers in Medicine","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142266437","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Curriculum guide for teaching house officers and faculty: applying procedure codes effectively using chemical denervation as a model","authors":"Maryam Berri, Noha Beydoun, Martha Johnson","doi":"10.3389/fmed.2024.1359230","DOIUrl":"https://doi.org/10.3389/fmed.2024.1359230","url":null,"abstract":"IntroductionThe healthcare system in the United States relies heavily on physician-and house officer-driven initiation of billing and coding for collection of hospital payments and professional fees. Under the umbrella of practice management is the ever-changing and suboptimally taught concept of procedural billing and coding to house officers and faculty. Clinical providers and practitioners initiate billing and coding for performed services based on the procedural visit encounter, supported by the appropriate documentation. Correct charge capture is dependent on accurately linking CPT codes and J codes, including waste documentation, modifiers, and charge collection. We discuss a perspective regarding a new curricular methodology that teaches learners to apply an algorithmic approach for coding CPT codes, J codes, and modifiers for chemical denervation procedures involving high-cost botulinum toxin. We further recommend the use of visuals with algorithm development for other pertinent procedures that are specific to a department.MethodsWe developed a curriculum that includes algorithmic visuals, pre-and post-test questions, and reflections. It was implemented across various learner types.ResultsThis chemical denervation curriculum was well-received and impactful in meeting the objectives of the course. It further expanded a learner’s vision of practice management that can be applied to other procedural examples.DiscussionThe results demonstrate a clear gap in practice management education, with pre-education knowledge on applying appropriate codes being particularly low among resident physicians. Learners found the algorithm we developed especially valuable, as it serves as a practical tool for accurately accounting for all aspects of CPT codes, modifiers, and J-codes. The methodology of the algorithmic approach proved to be innovative for avoiding billing write-offs and loopbacks that were beneficial for the training process. Learners indicated that this approach can be applied to other procedural billing.","PeriodicalId":12488,"journal":{"name":"Frontiers in Medicine","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142266390","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vulnerability, social value and the equitable sharing of benefits from research: beyond the placebo and access debates","authors":"Chieko Kurihara, Dirceu Greco, Ames Dhai, Kotone Matsuyama, Varvara Baroutsou","doi":"10.3389/fmed.2024.1432267","DOIUrl":"https://doi.org/10.3389/fmed.2024.1432267","url":null,"abstract":"The vulnerability of research participants is a critical topic for the 2024 revision of the Declaration of Helsinki, with the proposal to include “social value. ” However, this proposal has been withdrawn and the relationship between the two concepts has not been clarified. This paper attempts to clarify: (1) the recent reform for the ethical inclusion of vulnerable study participants to promote diversity; (2) the social value, prerequisite for everyone, especially for those who are vulnerable and the most in need; (3) the requirements for promoting the inclusion of vulnerable participants, in particular the review of the norms for placebo-controlled trials and post-trial access; (4) finally, the direction of research ethics reform to achieve social value and equitable global health.","PeriodicalId":12488,"journal":{"name":"Frontiers in Medicine","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142266392","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel RPE65 variant p.(Ala391Asp) in Leber congenital amaurosis: a case report and literature review in Japan","authors":"Natsuki Higa, Takaaki Hayashi, Kei Mizobuchi, Maki Iwasa, Shingo Kubota, Kazuki Kuniyoshi, Shuhei Kameya, Hiroyuki Kondo, Mineo Kondo, Tadashi Nakano","doi":"10.3389/fmed.2024.1442107","DOIUrl":"https://doi.org/10.3389/fmed.2024.1442107","url":null,"abstract":"IntroductionIn Japan, inherited retinal dystrophy caused by biallelic variants of the <jats:italic>RPE65</jats:italic> gene is exceedingly rare. The purpose of this study was to describe a Japanese male patient with a novel variant in <jats:italic>RPE65</jats:italic> associated with Leber congenital amaurosis (LCA).Case reportThe patient, diagnosed with LCA, exhibited infantile nystagmus and reported experiencing night blindness since early childhood. At 27 years of age, the patient underwent an ophthalmologically evaluation. Corrected visual acuity was Snellen equivalent 20/133 in the right eye and Snellen equivalent 20/100 in the left eye. Fundus examination revealed alterations in the retinal pigment epithelium characterized by hypopigmentation and narrowing of retinal vessels. Fundus autofluorescence imaging demonstrated a generally diminished autofluorescent signal. Full-field electroretinography identified a generalized dysfunction of both rod and cone systems in each eye. Whole exome sequencing identified a novel missense variant in <jats:italic>RPE65</jats:italic> (NM_000329.3): c.1172C &amp;gt; A p.(Ala391Asp), which was classified as pathogenic, as well as a recurrent variant p.(Arg515Trp).ConclusionThis study provides valuable insights into the genotype–phenotype correlation of <jats:italic>RPE65</jats:italic>-associated LCA in Japanese patients, with critical implications for enhanced diagnostic accuracy and informed therapeutic decisions.","PeriodicalId":12488,"journal":{"name":"Frontiers in Medicine","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142266389","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparative effectiveness of combined biologic agents versus standard therapies in the treatment of plaque psoriasis: a retrospective analysis","authors":"Bo Wu, Qian Chen, Rong Cao, Lei Zhu, Hongyan Zhu","doi":"10.3389/fmed.2024.1451069","DOIUrl":"https://doi.org/10.3389/fmed.2024.1451069","url":null,"abstract":"IntroductionPlaque psoriasis is a persistent skin disorder that necessitates efficient management. This study investigates the therapeutic effectiveness and timeline for skin lesion resolution in plaque psoriasis patients treated with combined biologic agents compared to standard therapies.MethodsConducted retrospectively between March 2020 and March 2023, the study included 162 patients with moderate to severe plaque psoriasis. Participants were divided into two groups: the Control Group, which received standard treatments, and the Combined Biologic Agent Group, which received additional biologic therapy with secukinumab. Participants in the Control Group received standard treatments, while those in the Combined Biologic Agent Group received standard treatments plus secukinumab.ResultsThe results showed that the Combined Biologic Agent Group experienced a significantly faster onset of therapeutic effects, with an average time of 3.04 ± 2.25 days compared to 6.12 ± 2.06 days in the Control Group. Additionally, skin lesion resolution occurred more rapidly in the biologic agent group (7.04 ± 2.13 days) than in the control group (14.56 ± 4.73 days). By week 24, the Psoriasis Area and Severity Index (PASI) scores demonstrated a more substantial reduction in the biologic agent group, decreasing from 26.98 ± 11.28 to 2.48 ± 3.01, whereas the control group showed a reduction from 25.82 ± 10.47 to 10.40 ± 7.63. The overall effectiveness rate was higher in the biologic agent group, with no cases of ineffectiveness, compared to a 20.99% ineffectiveness rate in the control group. Furthermore, there was no recurrence of the disease in the biologic agent group, while the control group experienced an 11.11% recurrence rate. Both groups had a similar incidence of adverse reactions, indicating that the addition of biologic agents does not significantly increase the risk of adverse events.DiscussionThese findings suggest that combined biologic agent therapy offers a more effective and faster treatment option for plaque psoriasis without compromising safety. However, larger-scale clinical trials are necessary to validate these results and establish the long-term benefits and safety of this treatment approach in diverse patient populations.","PeriodicalId":12488,"journal":{"name":"Frontiers in Medicine","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142266603","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dry eye disease and spondyloarthritis: expanding the spectrum of systemic inflammatory disorders associated with ocular surface disease. Data from the international AIDA Network Spondyloarthritis Registry","authors":"Antonio Vitale, Valeria Caggiano, Eduardo Martín-Nares, Nunzia Di Meglio, Cristian Sica, Andrea Hinojosa-Azaola, Maria Orsetta Perfetti, Alessandra Pagliara, Giorgia Guidetti, Alex Fonollosa, Roberta Lopez, Jessica Sbalchiero, Jurgen Sota, Ester Carreño, Perla Ayumi Kawakami-Campos, Stefano Gentileschi, Alejandra de-la-Torre, Gian Marco Tosi, Maria Antonietta Mazzei, Alberto Balistreri, Bruno Frediani, Luca Cantarini, Claudia Fabiani","doi":"10.3389/fmed.2024.1422307","DOIUrl":"https://doi.org/10.3389/fmed.2024.1422307","url":null,"abstract":"ObjectiveDry eye disease (DED) is a condition associated with a myriad of systemic disorders. According to recent preliminary data, axial spondylarthritis (axial-SpA) could represent a new entity associated with DED. Therefore, this study aimed to assess DED in patients with axial SpA by performing quantitative and qualitative specific tests to investigate the potential association between DED and ocular surface damage in patients with axial-SpA and to identify potential variables associated with DED.MethodsA total of 71 patients with axial-SpA who fulfilled the Assessment of SpondyloArthritis International Society (ASAS) classification criteria and 19 healthy controls were enrolled in this study. Both the patients and the controls underwent a complete ocular assessment aimed at evaluating the tear film and ocular surface, which included the Schirmer test, tear break-up time (TBUT), fluorescein staining, and lissamine green staining. The Ocular Surface Disease Index (OSDI) questionnaire was administered to all patients.ResultsDED symptoms were reported in 46 (64.8%) patients and three (15.8%) healthy controls (<jats:italic>p</jats:italic> = 0.0004). The odds ratio for receiving a diagnosis of axial-SpA based on the presence of dry-eye-related symptoms was 9.2 (95% C.I. 2.72–42.52, <jats:italic>p</jats:italic> = 0.001). The Schirmer test values of &amp;lt; 6 mm/5 min were observed in 31 (43.7%) patients with axial-SpA and two (10.5%) healthy controls (<jats:italic>p</jats:italic> = 0.013); a TBUT of &amp;lt;5 s was observed in 34 (47.9%) patients with axial-SpA and six (31.6%) healthy controls. The median OSDI score was found to be 22.9 (IQR = 29.35) among the patients with axial-SpA and 0.0 (IQR = 4.69) among the healthy controls (<jats:italic>p</jats:italic> = 0.009). The fluorescein and lissamine green staining of the ocular surface indicated a significantly higher Oxford Grading Scale in the patients with axial-SpA than in the healthy controls.ConclusionPatients with axial-SpA often complain of eye dryness, which may be quantified with the self-administered OSDI questionnaire and objectively assessed through the tests commonly used for the diagnosis of DED. Patients suspected of having axial-SpA should routinely be asked about dry eye symptoms and evaluated for potential corneal and conjunctival damage.","PeriodicalId":12488,"journal":{"name":"Frontiers in Medicine","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142266646","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Causal relationship between non-alcoholic fatty liver disease and sarcopenia: a bidirectional Mendelian randomization study","authors":"Meng Chen, Jili Liu, Xin Xia, Yarong Wang, Hongying Zheng","doi":"10.3389/fmed.2024.1422499","DOIUrl":"https://doi.org/10.3389/fmed.2024.1422499","url":null,"abstract":"IntroductionA correlation between non-alcoholic fatty liver disease and sarcopenia is demonstrated, but the causality remains unclear. Our study aims to clarify the point of genetics between non-alcoholic fatty liver disease (NAFLD) and sarcopenia at the level of gene prediction through two-sample Mendelian randomization (MR) analysis.MethodsThe study employed the two-sample MR approach to investigate the bi-directional causality between NAFLD and sarcopenia. Published summary statistics were used to obtain instrumental variables (IVs) at the genome-wide significance level.ResultsIVW analysis showed that the risk of NAFLD was reduced when walking pace was increased (OR = 0.435, 95%CI 0.240–0.789, <jats:italic>p</jats:italic> = 0.006); Increasing appendicular lean mass (ALM) decreased the risk of NAFLD (OR = 0.906, 95%CI 0.838–0.980, <jats:italic>p</jats:italic> = 0.014); Those older than 60 were more likely to suffer from NAFLD if they had low grip strength (OR = 1.411, 95%CI 1.087–1.830, <jats:italic>p</jats:italic> = 0.0012). In the reverse MR study, weight median analysis showed that NAFLD caused a decrease in ALM (OR = 0.953, 95%CI 0.957–0.994, <jats:italic>p</jats:italic> = 0.001); whereas NAFLD showed no correlation with usual walking pace or grip strength (all with <jats:italic>p</jats:italic> &amp;gt; 0.05). MR-Egger regression analysis showed that there was no horizontal pleiotropy in the SNPs (all with <jats:italic>p</jats:italic> &amp;gt; 0.05).ConclusionThe characteristics related to sarcopenia (usual walking pace, appendicular lean mass and low hand grip strength) may play a causal role in the development of nonalcoholic fatty liver disease, although the underlying mechanisms need to be further investigated. The presence of specific single nucleotide polymorphisms (SNPs) such as rs3747207, rs429358, and rs73001065 has been identified in the PNPLA3, APOE, and MAU2 proteins. These genetic markers represent potential targets for future interventions aimed at addressing, managing, or mitigating the risk of NAFLD.","PeriodicalId":12488,"journal":{"name":"Frontiers in Medicine","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142266600","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}