Biomedical Journal最新文献_第8页

ECG-surv: A deep learning-based model to predict time to 1-year mortality from 12-lead electrocardiogram. ECG-surv：基于深度学习的模型，通过 12 导联心电图预测 1 年死亡时间。

IF 5.5 3区医学

Biomedical Journal Pub Date : 2024-04-30 DOI: 10.1016/j.bj.2024.100732

Ching-Heng Lin, Zhi-Yong Liu, Jung-Sheng Chen, Yang C Fann, Ming-Shien Wen, Chang-Fu Kuo

{"title":"ECG-surv: A deep learning-based model to predict time to 1-year mortality from 12-lead electrocardiogram.","authors":"Ching-Heng Lin, Zhi-Yong Liu, Jung-Sheng Chen, Yang C Fann, Ming-Shien Wen, Chang-Fu Kuo","doi":"10.1016/j.bj.2024.100732","DOIUrl":"https://doi.org/10.1016/j.bj.2024.100732","url":null,"abstract":"<p><strong>Background: </strong>Electrocardiogram (ECG) abnormalities have demonstrated potential as prognostic indicators of patient survival. However, the traditional statistical approach is constrained by structured data input, limiting its ability to fully leverage the predictive value of ECG data in prognostic modeling.</p><p><strong>Methods: </strong>This study aims to introduce and evaluate a deep-learning model to simultaneously handle censored data and unstructured ECG data for survival analysis. We herein introduce a novel deep neural network called ECG-surv, which includes a feature extraction neural network and a time-to-event analysis neural network. The proposed model is specifically designed to predict the time to 1-year mortality by extracting and analyzing unique features from 12-lead ECG data. ECG-surv was evaluated using both an independent test set and an external set, which were collected using different ECG devices.</p><p><strong>Results: </strong>The performance of ECG-surv surpassed that of the Cox proportional model, which included demographics and ECG waveform parameters, in predicting 1-year all-cause mortality, with a significantly higher concordance index (C-index) in ECG-surv than in the Cox model using both the independent test set (0.860 [95% CI: 0.859- 0.861] vs. 0.796 [95% CI: 0.791- 0.800]) and the external test set (0.813 [95% CI: 0.807- 0.814] vs. 0.764 [95% CI: 0.755- 0.770]). ECG-surv also demonstrated exceptional predictive ability for cardiovascular death (C-index of 0.891 [95% CI: 0.890- 0.893]), outperforming the Framingham risk Cox model (C-index of 0.734 [95% CI: 0.715-0.752]).</p><p><strong>Conclusion: </strong>ECG-surv effectively utilized unstructured ECG data in a survival analysis. It outperformed traditional statistical approaches in predicting 1-year all-cause mortality and cardiovascular death, which makes it a valuable tool for predicting patient survival.</p>","PeriodicalId":8934,"journal":{"name":"Biomedical Journal","volume":" ","pages":"100732"},"PeriodicalIF":5.5,"publicationDate":"2024-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140853895","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}

引用次数: 0

Antrodia cinnamomea extract alleviates bleomycin-induced pulmonary fibrosis in mice by inhibiting the mTOR pathway 蚂蚁肉桂提取物通过抑制mTOR途径减轻博莱霉素诱导的小鼠肺纤维化。

IF 4.1 3区医学

Biomedical Journal Pub Date : 2024-04-26 DOI: 10.1016/j.bj.2024.100720

{"title":"Antrodia cinnamomea extract alleviates bleomycin-induced pulmonary fibrosis in mice by inhibiting the mTOR pathway","authors":"","doi":"10.1016/j.bj.2024.100720","DOIUrl":"10.1016/j.bj.2024.100720","url":null,"abstract":"<div><h3>Background</h3><div>Pulmonary fibrosis is a progressive diffuse parenchymal lung disorder with a high mortality rate. Studies have indicated that injured lung tissues release various pro-inflammatory factors, and produce a large amount of nitric oxide. There is also accumulation of collagen and oxidative stress-induced injury, collectively leading to pulmonary fibrosis. <em>Antrodia cinnamomea</em> is an endemic fungal growth in Taiwan, and its fermented extracts exert anti-inflammatory effects to alleviate liver damages. Hence, we hypothesized and tested the feasibility of using <em>A. cinnamomea</em> extracts for treatment of pulmonary fibrosis.</div></div><div><h3>Methods</h3><div>The TGF-β1-induced human lung fibroblast cells (MRC-5) <em>in vitro</em> cell assay were used to evaluate the effects of <em>A. cinnamomea</em> extracts on the collagen production in MRC-5. Eight-week-old ICR mice were intratracheally administered bleomycin and then fed with an <em>A. cinnamomea</em> extract on day 3 post-administration of bleomycin. At day 21 post-bleomycin administration, the pulmonary functional test, the expression level of inflammation- and fibrosis-related genes in the lung tissue, and the histopathological change were examined.</div></div><div><h3>Results</h3><div>The <em>A. cinnamomea</em> extract significantly attenuated the expression level of collagen in the TGF-β1-induced MRC-5 cells. In the <em>A. cinnamome</em>-treated bleomycin-induced lung fibrotic mice, the bodyweight increased, pulmonary functions improved, the lung tissues expression level of inflammatory factor and the fibrotic indicator were decreased, and the histopathological results showed the reduction of thickening of the inter-alveolar septa.</div></div><div><h3>Conclusions</h3><div>The <em>Antrodia cinnamomea</em> extract significant protects mice against bleomycin-induced lung injuries through improvement of body weight gain and lung functions, and attenuation of expression of inflammatory and fibrotic indicators.</div></div>","PeriodicalId":8934,"journal":{"name":"Biomedical Journal","volume":"47 6","pages":"Article 100720"},"PeriodicalIF":4.1,"publicationDate":"2024-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140847471","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pharmaceutical cost savings from the treatment of oncology patients in clinical trials. 临床试验中治疗肿瘤患者节省的医药成本。

IF 5.5 3区医学

Biomedical Journal Pub Date : 2024-04-26 DOI: 10.1016/j.bj.2024.100742

Borja Gómez Mediavilla, Paloma Lanza León, Virginia Martínez Callejo, David Cantarero Prieto, María Lanza Postigo, Matilde Salcedo Lambea, Yolanda Blanco Mesonero, María Ochagavia Sufrategui, Ignacio Durán, Carmen María Sarabia Cobo

{"title":"Pharmaceutical cost savings from the treatment of oncology patients in clinical trials.","authors":"Borja Gómez Mediavilla, Paloma Lanza León, Virginia Martínez Callejo, David Cantarero Prieto, María Lanza Postigo, Matilde Salcedo Lambea, Yolanda Blanco Mesonero, María Ochagavia Sufrategui, Ignacio Durán, Carmen María Sarabia Cobo","doi":"10.1016/j.bj.2024.100742","DOIUrl":"https://doi.org/10.1016/j.bj.2024.100742","url":null,"abstract":"<p><strong>Objective: </strong>The aim of this study was twofold: to assess the annual pharmaceutical savings associated with the treatment of cancer patients at Marqués de Valdecilla University Hospital and to estimate the cost of innovative antineoplastic therapies that patients receive as experimental treatment, both during clinical trials throughout 2020.</p><p><strong>Material and methods: </strong>An observational and financial analysis of the drug cost related to clinical trials was applied. Direct cost savings to the Regional Health System of Cantabria and the cost of innovative therapies used as an experimental treatment in clinical trials were quantified.</p><p><strong>Results: </strong>This study includes 38 clinical trials with a sample of 101 patients. The clinical trials analyzed provide a total cost savings of €603,350.21 and an average cost saving of €6,630.22 per patient. Furthermore, the total investment amounts to €789,892.67, with an average investment of €15,488.09 per patient.</p><p><strong>Conclusions: </strong>Clinical trials are essential for the advancement of science. Furthermore, clinical trials can be a significant source of income for both hospitals and Regional Health Systems, contributing to their financial sustainability.</p>","PeriodicalId":8934,"journal":{"name":"Biomedical Journal","volume":" ","pages":"100742"},"PeriodicalIF":5.5,"publicationDate":"2024-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140859710","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}

引用次数: 0

Applications of Deep Learning in Trauma Radiology: A Narrative Review. 深度学习在创伤放射学中的应用：叙述性综述。

IF 5.5 3区医学

Biomedical Journal Pub Date : 2024-04-26 DOI: 10.1016/j.bj.2024.100743

Chi-Tung Cheng, Chun-Hsiang Ooyang, Shih-Ching Kang, Chien-Hung Liao

{"title":"Applications of Deep Learning in Trauma Radiology: A Narrative Review.","authors":"Chi-Tung Cheng, Chun-Hsiang Ooyang, Shih-Ching Kang, Chien-Hung Liao","doi":"10.1016/j.bj.2024.100743","DOIUrl":"https://doi.org/10.1016/j.bj.2024.100743","url":null,"abstract":"<p><p>Diagnostic imaging is essential in modern trauma care for initial evaluation and identifying injuries requiring intervention. Deep learning (DL) has become mainstream in medical image analysis and has shown promising efficacy for classification, segmentation, and lesion detection. This narrative review provides the fundamental concepts for developing DL algorithms in trauma imaging and presents an overview of current progress in each modality. DL has been applied to detect free fluid on Focused Assessment with Sonography for Trauma (FAST), traumatic findings on chest and pelvic X-rays, and computed tomography (CT) scans, identify intracranial hemorrhage on head CT, detect vertebral fractures, and identify injuries to organs like the spleen, liver, and lungs on abdominal and chest CT. Future directions involve expanding dataset size and diversity through federated learning, enhancing model explainability and transparency to build clinician trust, and integrating multimodal data to provide more meaningful insights into traumatic injuries. Though some commercial artificial intelligence products are Food and Drug Administration-approved for clinical use in the trauma field, adoption remains limited, highlighting the need for multi-disciplinary teams to engineer practical, real-world solutions. Overall, DL shows immense potential to improve the efficiency and accuracy of trauma imaging, but thoughtful development and validation are critical to ensure these technologies positively impact patient care.</p>","PeriodicalId":8934,"journal":{"name":"Biomedical Journal","volume":" ","pages":"100743"},"PeriodicalIF":5.5,"publicationDate":"2024-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140850676","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}

引用次数: 0

The Effect and Mechanism of Astragalus Polysaccharides on T Cells and Macrophages in Inhibiting Prostate Cancer. 黄芪多糖对T细胞和巨噬细胞抑制前列腺癌的作用和机制

IF 5.5 3区医学

Biomedical Journal Pub Date : 2024-04-25 DOI: 10.1016/j.bj.2024.100741

Ching-Yuan Wu, Yao-Hsu Yang, Yu-Shih Lin, Li-Hsin Shu, Hung-Te Liu, Chung-Kuang Lu, Yu-Huei Wu, Yu-Heng Wu

{"title":"The Effect and Mechanism of Astragalus Polysaccharides on T Cells and Macrophages in Inhibiting Prostate Cancer.","authors":"Ching-Yuan Wu, Yao-Hsu Yang, Yu-Shih Lin, Li-Hsin Shu, Hung-Te Liu, Chung-Kuang Lu, Yu-Huei Wu, Yu-Heng Wu","doi":"10.1016/j.bj.2024.100741","DOIUrl":"https://doi.org/10.1016/j.bj.2024.100741","url":null,"abstract":"<p><strong>Background: </strong>The impact and underlying mechanisms of astragalus polysaccharide (APS) on prostate cancer, particularly its role in immunomodulation, remain inadequately elucidated.</p><p><strong>Methods: </strong>This study employed the XTT assay for assessing proliferation in prostate cancer cells and macrophages. T cell proliferation was determined using the Carboxyfluorescein diacetate succinimidyl ester labeling assay. APS's effect on T cells and macrophages was scrutinized via flow cytometry, Western blot analysis, ELISA, quantitative PCR and cytokine membrane arrays. The effect of APS on interaction between PD-L1 and PD-1 was investigated by the PD-L1/PD-1 homogeneous assay. Additionally, the impact of conditioned medium from T cells and macrophages on PC-3 cell migration was explored through migration assays.</p><p><strong>Results: </strong>It was observed that APS at concentrations of 1 and 5 mg/mL enhanced the proliferation of CD8+ T cells. At a concentration of 5 mg/mL, APS activated both CD4+ and CD8+ T cells, attenuated PD-L1 expression in prostate cancer cells stimulated with interferon gamma (IFN-γ) or oxaliplatin, and moderately decreased the population of PD-1+ CD4+ and PD-1+ CD8+ T cells. Furthermore, APS at this concentration impeded the interaction between PD-L1 and PD-1, inhibited the promotion of prostate cancer migration mediated by RAW 264.7 cells, THP-1 cells, CD4+ T cells, and CD8+ T cells, and initiated apoptosis in prostate cancer cells treated with conditioned medium from APS (5 mg/mL)-treated CD8+ T cells, RAW 264.7 cells, or THP-1 cells.</p><p><strong>Conclusion: </strong>The findings indicate a potential role of 5 mg/mL APS in modulating the PD-1/PD-L1 pathway and influencing the immune response, encompassing T cells and macrophages. Consequently, further in vivo research is recommended to assess the efficacy of APS.</p>","PeriodicalId":8934,"journal":{"name":"Biomedical Journal","volume":" ","pages":"100741"},"PeriodicalIF":5.5,"publicationDate":"2024-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140856037","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}

引用次数: 0

Guizhi Fuling Wan ameliorates concanavalin A-induced autoimmune hepatitis in mice. 桂枝茯苓丸可改善小鼠由金刚烷胺 A 引起的自身免疫性肝炎。

IF 5.5 3区医学

Biomedical Journal Pub Date : 2024-04-25 DOI: 10.1016/j.bj.2024.100731

Shun-Li Kuo, Chun-Han Su, Kuei-Hung Lai, Yu-Chia Chang, Jyh-Sheng You, Hsin-Hsin Peng, Chun-Hong Chen, Chi-Chen Lin, Po-Jen Chen, Tsong-Long Hwan

{"title":"Guizhi Fuling Wan ameliorates concanavalin A-induced autoimmune hepatitis in mice.","authors":"Shun-Li Kuo, Chun-Han Su, Kuei-Hung Lai, Yu-Chia Chang, Jyh-Sheng You, Hsin-Hsin Peng, Chun-Hong Chen, Chi-Chen Lin, Po-Jen Chen, Tsong-Long Hwan","doi":"10.1016/j.bj.2024.100731","DOIUrl":"https://doi.org/10.1016/j.bj.2024.100731","url":null,"abstract":"<p><strong>Background: </strong>Autoimmune hepatitis (AIH) is an immune-mediated hepatic disease associated with intense complications. AIH is more common in females and needs effective drugs to treat. Guizhi Fuling Wan (GZFLW) is a traditional Chinese herbal formula used to treat various gynecologic diseases. In this study, we aim to extend the new use of GZFLW for AIH.</p><p><strong>Methods: </strong>The tandem MS-based analysis was used to identify secondary metabolites in GZFLW. Therapeutic effects of GZFLW were tested in a concanavalin A (Con A)-induced AIH model in mice. Ethnopharmacological mechanisms underlying the antiapoptotic, antioxidant, and immunomodulatory protective effects were determined.</p><p><strong>Results: </strong>Oral administration of GZFLW attenuates AIH in a Con A-induced hepatotoxic model in vivo. The tandem MS-based analysis identified 15 secondary metabolites in GZFLW. The Con A-induced AIH syndromes, including hepatic apoptosis, inflammation, reactive oxygen species accumulation, function failure, and mortality, were significantly alleviated by GZFLW in mice. Mechanistically, GZFLW restrained the caspase-dependent apoptosis, restored the antioxidant system, and decreased pro-inflammatory cytokine production in the livers of Con A-treated mice. Besides, GZFLW repressed the Con A-induced hepatic infiltration of inflammatory cells, splenic T cell activation, and splenomegaly in mice.</p><p><strong>Conclusions: </strong>Our findings demonstrate the applicable potential of GZFLW in treating AIH. It prompts further investigation of GZFLW as a treatment option for AIH and possibly other hepatic diseases.</p>","PeriodicalId":8934,"journal":{"name":"Biomedical Journal","volume":" ","pages":"100731"},"PeriodicalIF":5.5,"publicationDate":"2024-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140855876","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}

引用次数: 0

m⁶A landscape is more pervasive when Trypanosoma brucei exits the cell cycle. 当布氏锥虫退出细胞周期时，m6A 的分布更为普遍。

IF 5.5 3区医学

Biomedical Journal Pub Date : 2024-04-17 DOI: 10.1016/j.bj.2024.100728

Lúcia Serra, Sara Silva Pereira, Idálio J Viegas, Henrique Machado, Lara López-Escobar, Luisa M Figueiredo

{"title":"m<sup>6</sup>A landscape is more pervasive when Trypanosoma brucei exits the cell cycle.","authors":"Lúcia Serra, Sara Silva Pereira, Idálio J Viegas, Henrique Machado, Lara López-Escobar, Luisa M Figueiredo","doi":"10.1016/j.bj.2024.100728","DOIUrl":"https://doi.org/10.1016/j.bj.2024.100728","url":null,"abstract":"<p><p>N6-methyladenosine (m<sup>6</sup>A) is a mRNA modification with important roles in gene expression. In African trypanosomes, this post-transcriptional modification is detected in hundreds of transcripts and it affects the stability of the variant surface glycoprotein (VSG) transcript in the proliferating blood stream form. However, how the m<sup>6</sup>A landscape varies across the life cycle remains poorly defined. Using full-length, non-fragmented RNA, we immunoprecipitated and sequenced m<sup>6</sup>A-modified transcripts across three life cycle stages of Trypanosoma brucei - slender (proliferative), stumpy (quiescent), and procyclic forms (proliferative). We found that 1037 transcripts are methylated in at least one of these three life cycle stages. While 21% of methylated transcripts are common in the three stages of the life cycle, globally each stage has a distinct methylome. Interestingly, 47% of methylated transcripts are detected in the quiescent stumpy form only, suggesting a critical role for m<sup>6</sup>A when parasites exit the cell cycle and prepare for transmission by the Tsetse fly. In this stage, we found that a significant proportion of methylated transcripts encodes for proteins involved in RNA metabolism, which is consistent with their reduced transcription and translation. Moreover, we found that not all major surface proteins are regulated by m<sup>6</sup>A, as procyclins are not methylated, and that, within the VSG repertoire, not all VSG transcripts are demethylated upon parasite differentiation to procyclic form. This study reveals that the m<sup>6</sup>A regulatory landscape is specific to each life cycle stage, becoming more pervasive as T. brucei exits the cell cycle.</p>","PeriodicalId":8934,"journal":{"name":"Biomedical Journal","volume":" ","pages":"100728"},"PeriodicalIF":5.5,"publicationDate":"2024-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140847975","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}

引用次数: 0

In vivo SPECT imaging of Tc-99m radiolabeled exosomes from human umbilical-cord derived mesenchymal stem cells in small animals 人脐带间充质干细胞Tc-99 m放射性标记外泌体在小动物体内的SPECT成像。

IF 4.1 3区医学

Biomedical Journal Pub Date : 2024-04-16 DOI: 10.1016/j.bj.2024.100721

{"title":"In vivo SPECT imaging of Tc-99m radiolabeled exosomes from human umbilical-cord derived mesenchymal stem cells in small animals","authors":"","doi":"10.1016/j.bj.2024.100721","DOIUrl":"10.1016/j.bj.2024.100721","url":null,"abstract":"<div><p>Extracellular vesicles derived from human umbilical cord-derived mesenchymal stem cells (UCMSC-EVs) have been postulated to have therapeutic potential for various diseases. However, the biodistribution and pharmacokinetics of these vesicles are still unclear. For a better understanding of the <em>in vivo</em> properties of UCMSC-EVs, in the present study, these vesicles were first radiolabeled with Technetium-99m (<sup>99m</sup>Tc-UCMSC-EVs) and evaluated using <em>in vivo</em> single photon emission computed tomography (SPECT) imaging and biodistribution experiments. SPECT images demonstrated that the liver and spleen tissues mainly took up the <sup>99m</sup>Tc-UCMSC-EVs. The biodistribution study observed slight uptake in the thyroid and stomach, indicating that <sup>99m</sup>Tc-UCMSC-EVs was stable at 24 h <em>in vivo</em>. The pharmacokinetic analyses of the blood half-life demonstrated the quick distribution phase (0.85 ± 0.28 min) and elimination phase (25.22 ± 20.76 min) in mice. This study provides a convenient and efficient method for <sup>99m</sup>Tc-UCMSC-EVs preparation without disturbing their properties. In conclusion, the biodistribution, quick elimination, and suitable stability <em>in vivo</em> of <sup>99m</sup>Tc-UCMSC-EVs were quantified by the noninvasive imaging and pharmacokinetic analyses, which provides useful information for indication selection, dosage protocol design, and toxicity assessment in future applications.</p></div>","PeriodicalId":8934,"journal":{"name":"Biomedical Journal","volume":"47 5","pages":"Article 100721"},"PeriodicalIF":4.1,"publicationDate":"2024-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2319417024000246/pdfft?md5=f6bfd85d22f0548e875248f1e7865047&pid=1-s2.0-S2319417024000246-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140785094","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genome-wide association study identifies DRAM1 associated with Tourette syndrome in Taiwan 全基因组关联研究发现 DRAM1 与台湾的妥瑞症有关。

IF 4.1 3区医学

Biomedical Journal Pub Date : 2024-04-10 DOI: 10.1016/j.bj.2024.100725

{"title":"Genome-wide association study identifies DRAM1 associated with Tourette syndrome in Taiwan","authors":"","doi":"10.1016/j.bj.2024.100725","DOIUrl":"10.1016/j.bj.2024.100725","url":null,"abstract":"<div><h3>Background</h3><div>Tourette syndrome (TS) is a neurodevelopmental disorder characterized by motor and vocal tics. Several susceptibility loci associated with TS have been identified previously in populations of European descent using genome-wide association studies (GWAS). However, the exact pathogenic mechanism underlying TS is unknown; additionally, the results of previous GWAS for TS were based on Western populations, which may not translate to other populations. Therefore, we conducted a GWAS in Taiwanese patients with TS and chronic tic disorders (CTDs), with an aim to elucidate the genetic basis and potential risk factors for TS in this population.</div></div><div><h3>Methods</h3><div>GWAS was performed on a Taiwanese TS/CTDs cohort with a sample size of 1007 patients with TS and 25,522 ancestry-matched controls. Additionally, polygenic risk score was calculated and assessed.</div></div><div><h3>Results</h3><div>Genome-wide significant locus, rs12313062 (<em>p</em> = 1.43 × 10<sup>−8</sup>) and other 9 single nucleotide polymorphisms, were identified in chromosomes 12q23.2, associated with <em>DRAM1</em> and was a novel susceptibility locus identified in TS/CTDs group. DRAM1, a lysosomal transmembrane protein regulated by p53, modulates autophagy and apoptosis, with potential implications for neuropsychiatric conditions associated with autophagy disruption.</div></div><div><h3>Conclusions</h3><div>This study conducted the first GWAS for TS in a Taiwanese population, identifying a significant locus on chromosome 12q23.2 associated with <em>DRAM1</em>. These findings provide novel insights into the neurobiology of TS and potential directions for future research in this area.</div></div>","PeriodicalId":8934,"journal":{"name":"Biomedical Journal","volume":"47 6","pages":"Article 100725"},"PeriodicalIF":4.1,"publicationDate":"2024-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140847472","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Blood oxygenation state in COVID-19 patients: Unexplored role of 2,3-bisphosphoglycerate COVID-19 患者的血液氧合状态：尚未探索的 2,3-二磷酸甘油酯的作用

IF 4.1 3区医学

Biomedical Journal Pub Date : 2024-04-06 DOI: 10.1016/j.bj.2024.100723

{"title":"Blood oxygenation state in COVID-19 patients: Unexplored role of 2,3-bisphosphoglycerate","authors":"","doi":"10.1016/j.bj.2024.100723","DOIUrl":"10.1016/j.bj.2024.100723","url":null,"abstract":"<div><h3>Background</h3><div>COVID-19 reduces lung functionality causing a decrease of blood oxygen levels (hypoxemia) often related to a decreased cellular oxygenation (hypoxia). Besides lung injury, other factors are implicated in the regulation of oxygen availability such as pH, partial arterial carbon dioxide tension (PaCO<sub>2</sub>), temperature, and erythrocytic 2,3-bisphosphoglycerate (2,3-BPG) levels, all factors affecting hemoglobin saturation curve. However, few data are currently available regarding the 2,3-BPG modulation in SARS-CoV-2 affected patients at the hospital admission.</div></div><div><h3>Material and methods</h3><div>Sixty-eight COVID-19 patients were enrolled at hospital admission. The lung involvement was quantified using chest-Computer Tomography (CT) analysed with automatic software (CALIPER). Haemoglobin concentrations, glycemia, and routine analysis were evaluated in the whole blood, while partial arterial oxygen tension (PaO<sub>2</sub>), PaCO<sub>2</sub>, pH, and HCO<sub>3</sub><sup>−</sup> were assessed by arterial blood gas analysis. 2,3-BPG levels were assessed by specific immunoenzymatic assays in RBCs.</div></div><div><h3>Results</h3><div>A higher percentage of interstitial lung disease (ILD) and vascular pulmonary-related structure (VRS) volume on chest-CT quantified with CALIPER had been found in COVID-19 patients with a worse disease outcome (R = 0.4342; and R = 0.3641, respectively). Furthermore, patients with lower PaO<sub>2</sub> showed an imbalanced acid-base equilibrium (pH, <em>p</em> = 0.0208; PaCO<sub>2</sub>, <em>p</em> = 0.0496) and a higher 2,3-BPG levels (<em>p</em> = 0.0221). The 2,3-BPG levels were also lower in patients with metabolic alkalosis (<em>p</em> = 0.0012 vs. no alkalosis; and <em>p</em> = 0.0383 vs. respiratory alkalosis).</div></div><div><h3>Conclusions</h3><div>Overall, the data reveal a different pattern of activation of blood oxygenation compensatory mechanisms reflecting a different course of the COVID-19 disease specifically focusing on 2,3-BPG modulation.</div></div>","PeriodicalId":8934,"journal":{"name":"Biomedical Journal","volume":"47 6","pages":"Article 100723"},"PeriodicalIF":4.1,"publicationDate":"2024-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140765485","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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