Pub Date : 2024-09-14DOI: 10.1080/07853890.2024.2396568
Ziying Wang,Miaomiao Zhao,Xiaotong Huang,Yuxin Wang,Wentong Li,Jianhong Qiao,Xiao Yang
BACKGROUNDThe clinical efficacy of cancer treatment protocols remains unsatisfactory; however, the emergence of ferroptosis-driven therapy strategies has renewed hope for tumor treatment, owing to their remarkable tumor suppression effects. Biologically based small-molecule inducers are used in conventional method to induce ferroptosis. Nevertheless, some molecular drugs have limited solubility, poor ability to target cells, and fast metabolism, which hinder their ability to induce ferroptosis over a prolonged period. Fortunately, further investigations of ferroptosis and the development of nanotechnology have demonstrated that nanoparticles (NPs) are more efficient in inducing ferroptosis than drugs alone, which opens up new perspectives for cancer therapy.OBJECTIVEIn order to organize a profile of recent advance in NPs for inducing ferroptosis in cancer therapy, and NPs were comprehensively classified in a new light.Materials and methods: We comprehensively searched the databases such as PubMed and Embase. The time limit for searching was from the establishment of the database to 2023.11. All literatures were related to "ferroptosis", "nanoparticles", "nanodelivery systems", "tumors", "cancer".RESULTSWe summarized and classified the available NPs from a new perspective. The NPs were classified into six categories based on their properties: (1) iron oxide NPs (2) iron - based conversion NPs (3) core-shell structure (4) organic framework (5) silica NPs (6) lipoprotein NPs. According to the therapeutic types of NPs, they can be divided into categories: (1) NPs induced ferroptosis-related immunotherapy (2) NPs loaded with drugs (3) targeted therapy of NPs (4) multidrug resistance therapy (5) gene therapy with NPs (6) energy conversion therapy.CONCLUSIONSThe insights gained from this review can provide ideas for the development of original NPs and nanodelivery systems, pave the way for related nanomaterials application in clinical cancer therapy, and advance the application and development of nanotechnology in the medical field.
{"title":"Therapeutic types and advantages of functionalized nanoparticles in inducing ferroptosis in cancer therapy.","authors":"Ziying Wang,Miaomiao Zhao,Xiaotong Huang,Yuxin Wang,Wentong Li,Jianhong Qiao,Xiao Yang","doi":"10.1080/07853890.2024.2396568","DOIUrl":"https://doi.org/10.1080/07853890.2024.2396568","url":null,"abstract":"BACKGROUNDThe clinical efficacy of cancer treatment protocols remains unsatisfactory; however, the emergence of ferroptosis-driven therapy strategies has renewed hope for tumor treatment, owing to their remarkable tumor suppression effects. Biologically based small-molecule inducers are used in conventional method to induce ferroptosis. Nevertheless, some molecular drugs have limited solubility, poor ability to target cells, and fast metabolism, which hinder their ability to induce ferroptosis over a prolonged period. Fortunately, further investigations of ferroptosis and the development of nanotechnology have demonstrated that nanoparticles (NPs) are more efficient in inducing ferroptosis than drugs alone, which opens up new perspectives for cancer therapy.OBJECTIVEIn order to organize a profile of recent advance in NPs for inducing ferroptosis in cancer therapy, and NPs were comprehensively classified in a new light.Materials and methods: We comprehensively searched the databases such as PubMed and Embase. The time limit for searching was from the establishment of the database to 2023.11. All literatures were related to \"ferroptosis\", \"nanoparticles\", \"nanodelivery systems\", \"tumors\", \"cancer\".RESULTSWe summarized and classified the available NPs from a new perspective. The NPs were classified into six categories based on their properties: (1) iron oxide NPs (2) iron - based conversion NPs (3) core-shell structure (4) organic framework (5) silica NPs (6) lipoprotein NPs. According to the therapeutic types of NPs, they can be divided into categories: (1) NPs induced ferroptosis-related immunotherapy (2) NPs loaded with drugs (3) targeted therapy of NPs (4) multidrug resistance therapy (5) gene therapy with NPs (6) energy conversion therapy.CONCLUSIONSThe insights gained from this review can provide ideas for the development of original NPs and nanodelivery systems, pave the way for related nanomaterials application in clinical cancer therapy, and advance the application and development of nanotechnology in the medical field.","PeriodicalId":8371,"journal":{"name":"Annals of medicine","volume":"14 1","pages":"2396568"},"PeriodicalIF":4.4,"publicationDate":"2024-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142249666","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-13DOI: 10.1080/07853890.2024.2398200
Forrest Bohler, Lily Bohler, Varna Taranikanti
Diabetic retinopathy is a common yet severe complication of diabetes mellitus and is the leading cause of blindness in middle-aged adults. After years of poorly managed hyperglycemia, complications...
{"title":"Targeting pericyte retention in Diabetic Retinopathy: a review","authors":"Forrest Bohler, Lily Bohler, Varna Taranikanti","doi":"10.1080/07853890.2024.2398200","DOIUrl":"https://doi.org/10.1080/07853890.2024.2398200","url":null,"abstract":"Diabetic retinopathy is a common yet severe complication of diabetes mellitus and is the leading cause of blindness in middle-aged adults. After years of poorly managed hyperglycemia, complications...","PeriodicalId":8371,"journal":{"name":"Annals of medicine","volume":"66 1","pages":""},"PeriodicalIF":4.4,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142249716","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-13DOI: 10.1080/07853890.2024.2402949
Xinmiao Xue,Peng Liu,Chi Zhang,Zhiwei Ding,Li Wang,Yuke Jiang,Wei-Dong Shen,Shiming Yang,Fangyuan Wang
INTRODUCTIONTinnitus is a prevalent and disabling condition characterized by the perception of sound in the absence of external acoustic stimuli. The hyperactivity of the auditory pathway is a crucial factor in the development of tinnitus. This study aims to examine genetic expression variations in the dorsal cochlear nucleus (DCN) and inferior colliculus (IC) following the onset of tinnitus using transcriptomic analysis. The goal is to investigate the relationship between hyperactivity in the DCN and IC.METHODSTo confirm the presence of tinnitus behavior, we utilized the gap pre-pulse inhibition of the acoustic startle (GPIAS) response paradigm. In addition, we conducted auditory brainstem response (ABR) tests to determine the baseline hearing thresholds, and repeated the test one week after subjecting the rats to noise exposure (8-16 kHz, 126 dBHL, 2 h). Samples of tissue were collected from the DCN and IC in both the tinnitus and non-tinnitus groups of rats. We employed RNA sequencing and quantitative PCR techniques to analyze the changes in gene expression between these two groups. This allowed us to identify any specific genes or gene pathways that may be associated with the development or maintenance of tinnitus in the DCN and IC.RESULTSOur results demonstrated tinnitus-like behavior in rats exposed to noise, as evidenced by GPIAS measurements. We identified 61 upregulated genes and 189 downregulated genes in the DCN, along with 396 upregulated genes and 195 downregulated genes in the IC. Enrichment analysis of the DCN revealed the involvement of ion transmembrane transport regulation, synaptic transmission, and negative regulation of neuron apoptotic processes in the development of tinnitus. In the IC, the enrichment analysis indicated that glutamatergic synapses and neuroactive ligand-receptor interaction pathways may significantly contribute to the process of tinnitus development. Additionally, protein-protein interaction (PPI) networks were constructed, and 9 hub genes were selected based on their betweenness centrality rank in the DCN and IC, respectively.CONCLUSIONSOur findings reveal enrichment of differential expressed genes (DEGs) associated with pathways linked to alterations in neuronal excitability within the DCN and IC when comparing the tinnitus group to the non-tinnitus group. This indicates an increased trend in neuronal excitability within both the DCN and IC in the tinnitus model rats. Additionally, the enriched signaling pathways within the DCN related to changes in synaptic plasticity suggest that the excitability changes may propagate to IC.NEW AND NOTEWORTHYOur findings reveal gene expression alterations in neuronal excitability within the DCN and IC when comparing the tinnitus group to the non-tinnitus group at the transcriptome level. Additionally, the enriched signaling pathways related to changes in synaptic plasticity in the differentially expressed genes within the DCN suggest that the excitability changes may pr
{"title":"Transcriptional profile changes caused by noise-induced tinnitus in the cochlear nucleus and inferior colliculus of the rat.","authors":"Xinmiao Xue,Peng Liu,Chi Zhang,Zhiwei Ding,Li Wang,Yuke Jiang,Wei-Dong Shen,Shiming Yang,Fangyuan Wang","doi":"10.1080/07853890.2024.2402949","DOIUrl":"https://doi.org/10.1080/07853890.2024.2402949","url":null,"abstract":"INTRODUCTIONTinnitus is a prevalent and disabling condition characterized by the perception of sound in the absence of external acoustic stimuli. The hyperactivity of the auditory pathway is a crucial factor in the development of tinnitus. This study aims to examine genetic expression variations in the dorsal cochlear nucleus (DCN) and inferior colliculus (IC) following the onset of tinnitus using transcriptomic analysis. The goal is to investigate the relationship between hyperactivity in the DCN and IC.METHODSTo confirm the presence of tinnitus behavior, we utilized the gap pre-pulse inhibition of the acoustic startle (GPIAS) response paradigm. In addition, we conducted auditory brainstem response (ABR) tests to determine the baseline hearing thresholds, and repeated the test one week after subjecting the rats to noise exposure (8-16 kHz, 126 dBHL, 2 h). Samples of tissue were collected from the DCN and IC in both the tinnitus and non-tinnitus groups of rats. We employed RNA sequencing and quantitative PCR techniques to analyze the changes in gene expression between these two groups. This allowed us to identify any specific genes or gene pathways that may be associated with the development or maintenance of tinnitus in the DCN and IC.RESULTSOur results demonstrated tinnitus-like behavior in rats exposed to noise, as evidenced by GPIAS measurements. We identified 61 upregulated genes and 189 downregulated genes in the DCN, along with 396 upregulated genes and 195 downregulated genes in the IC. Enrichment analysis of the DCN revealed the involvement of ion transmembrane transport regulation, synaptic transmission, and negative regulation of neuron apoptotic processes in the development of tinnitus. In the IC, the enrichment analysis indicated that glutamatergic synapses and neuroactive ligand-receptor interaction pathways may significantly contribute to the process of tinnitus development. Additionally, protein-protein interaction (PPI) networks were constructed, and 9 hub genes were selected based on their betweenness centrality rank in the DCN and IC, respectively.CONCLUSIONSOur findings reveal enrichment of differential expressed genes (DEGs) associated with pathways linked to alterations in neuronal excitability within the DCN and IC when comparing the tinnitus group to the non-tinnitus group. This indicates an increased trend in neuronal excitability within both the DCN and IC in the tinnitus model rats. Additionally, the enriched signaling pathways within the DCN related to changes in synaptic plasticity suggest that the excitability changes may propagate to IC.NEW AND NOTEWORTHYOur findings reveal gene expression alterations in neuronal excitability within the DCN and IC when comparing the tinnitus group to the non-tinnitus group at the transcriptome level. Additionally, the enriched signaling pathways related to changes in synaptic plasticity in the differentially expressed genes within the DCN suggest that the excitability changes may pr","PeriodicalId":8371,"journal":{"name":"Annals of medicine","volume":"1 1","pages":"2402949"},"PeriodicalIF":4.4,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142249667","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-13DOI: 10.1080/07853890.2024.2401108
Jiayu Wen,Jian-Qing He
PURPOSEThe influence of pregnancy on tuberculosis (TB) has not been well studied. This study aimed to investigate the demographics, clinical characteristics and outcomes of pregnant-related TB compared with the general population with TB.METHODSWe retrospectively analysed medical records of women during pregnancy or within six months postpartum with active TB who were admitted to the West China Hospital between 2011 and 2022. According to age, gender and admission time, the general population with active TB was matched at a ratio of 1:2, and the demographics, clinical characteristics and outcomes were compared.RESULTSAll the participants in both the pregnant and non-pregnant groups were females, averaging 26 years old, with a majority of Han nationality (72.4% vs. 69.5%, respectively). The two groups were comparable (p < .05). Pregnant TB cases showed higher rates of fever (61% vs. 35%), dyspnoea (39.9% vs. 18.7%), neurological symptoms (34.4% vs. 11.0%) and miliary TB (24.5% vs. 10.9%) compared to non-pregnant cases (p < .05). Additionally, the pregnant group exhibited lower red blood cell counts (3.62 × 109/L vs. 4.37 × 109/L), lower albumin levels (31.20 g/L vs. 40.40 g/L) and elevated inflammatory markers (p < .05). Pregnant women with TB had severe outcomes, with 16.3% requiring intensive care unit (ICU) care and a 3.3% TB-related mortality rate - higher than local averages. In contrast, the non-pregnant group had lower rates (0.8% for ICU admission, and no TB-related deaths). Moreover, active TB during pregnancies led to a high rate of spontaneous abortion (34.1%), with military pulmonary TB identified as the sole risk factor for severe TB in pregnancies (OR: 3.6; 95% CI: 1.15, 11.34).CONCLUSIONSManifestations of TB in pregnant women differ from those in the general population with TB. Pregnancy complicated with active TB greatly harms the mother and foetus and requires special attention in the future.
{"title":"Clinical characteristics and pregnancy outcomes in pregnant women with TB: a retrospective cohort study.","authors":"Jiayu Wen,Jian-Qing He","doi":"10.1080/07853890.2024.2401108","DOIUrl":"https://doi.org/10.1080/07853890.2024.2401108","url":null,"abstract":"PURPOSEThe influence of pregnancy on tuberculosis (TB) has not been well studied. This study aimed to investigate the demographics, clinical characteristics and outcomes of pregnant-related TB compared with the general population with TB.METHODSWe retrospectively analysed medical records of women during pregnancy or within six months postpartum with active TB who were admitted to the West China Hospital between 2011 and 2022. According to age, gender and admission time, the general population with active TB was matched at a ratio of 1:2, and the demographics, clinical characteristics and outcomes were compared.RESULTSAll the participants in both the pregnant and non-pregnant groups were females, averaging 26 years old, with a majority of Han nationality (72.4% vs. 69.5%, respectively). The two groups were comparable (p < .05). Pregnant TB cases showed higher rates of fever (61% vs. 35%), dyspnoea (39.9% vs. 18.7%), neurological symptoms (34.4% vs. 11.0%) and miliary TB (24.5% vs. 10.9%) compared to non-pregnant cases (p < .05). Additionally, the pregnant group exhibited lower red blood cell counts (3.62 × 109/L vs. 4.37 × 109/L), lower albumin levels (31.20 g/L vs. 40.40 g/L) and elevated inflammatory markers (p < .05). Pregnant women with TB had severe outcomes, with 16.3% requiring intensive care unit (ICU) care and a 3.3% TB-related mortality rate - higher than local averages. In contrast, the non-pregnant group had lower rates (0.8% for ICU admission, and no TB-related deaths). Moreover, active TB during pregnancies led to a high rate of spontaneous abortion (34.1%), with military pulmonary TB identified as the sole risk factor for severe TB in pregnancies (OR: 3.6; 95% CI: 1.15, 11.34).CONCLUSIONSManifestations of TB in pregnant women differ from those in the general population with TB. Pregnancy complicated with active TB greatly harms the mother and foetus and requires special attention in the future.","PeriodicalId":8371,"journal":{"name":"Annals of medicine","volume":"25 1","pages":"2401108"},"PeriodicalIF":4.4,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142249668","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-13DOI: 10.1080/07853890.2024.2402950
Ufuk Yildirim, Abdulkadir Kara, Muhammet Uyanik, Ahmet Onur Kocasari, Ahmet Cinar, Metin Coksevim, Bahattin Avci, Korhan Soylu, Okan Gulel
Aorto-ostial (AO) coronary interventions may be associated with multiple problems, including the potential embolization of atherothrombotic debris into the aorta and systemic circulation. Such embo...
{"title":"Evaluation of silent brain injury in patients undergoing aorto-ostial coronary stent implantation","authors":"Ufuk Yildirim, Abdulkadir Kara, Muhammet Uyanik, Ahmet Onur Kocasari, Ahmet Cinar, Metin Coksevim, Bahattin Avci, Korhan Soylu, Okan Gulel","doi":"10.1080/07853890.2024.2402950","DOIUrl":"https://doi.org/10.1080/07853890.2024.2402950","url":null,"abstract":"Aorto-ostial (AO) coronary interventions may be associated with multiple problems, including the potential embolization of atherothrombotic debris into the aorta and systemic circulation. Such embo...","PeriodicalId":8371,"journal":{"name":"Annals of medicine","volume":"3 1","pages":""},"PeriodicalIF":4.4,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142249665","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-12DOI: 10.1080/07853890.2024.2398202
Shaista Salman Guraya,Salman Yousuf Guraya,Fiza Rashid-Doubell,Salim Fredericks,Denis W Harkin,Mohd Zarawi Bin Mat Nor,Muhamad Saiful Bahri Yusoff
BACKGROUNDThere has been an alarming surge in the usage of social networking sites (SNSs) by healthcare professionals (HCPs) without adherence to the principles of professionalism. The widespread use of SNSs in medical practices has been coupled with reports of breaches of professional behaviors. Despite the benefits of SNSs, skepticism prevails about a clearly defined role for SNSs within medicine based upon the core principles of professionalism. Thus, there is a need to understand the manifestations of professionalism in the digital context, classically known as e-professionalism. This study systematically examines HCPs' perceptions of e-professionalism to advance a thorough understanding of e-professionalism.METHODSThis concept analysis was performed using the principle-based approach of Penrod and Hupcey. In January 2023, we searched the databases of PubMed and ISI Web of Science for English-language articles specific to 'e-professionalism' in the medical field. The final selected research corpus of 63 articles was analyzed in this study.RESULTSA comprehensive analysis of the selected articles highlighted that e-professionalism is an epistemologically mature and distinct concept by a standard definition. However, inconsistencies in conceptual meanings were reported due to varied interpretations despite digital literacy. The pragmatic utility showed a lack of sound methodological and philosophical paradigms. Perhaps the rapid technological advancements and manifestations have hampered linguistic maturity. However, logically, e-professionalism is perceived as an extension of conventional professionalism but with a focus on a distinct framework with a set of attributes to be digitally relevant.CONCLUSIONThis study identifies a scarcity of research about the collective perspective of essential stakeholders, underpinning the need to further explore e-professionalism due to its emerging complex nature within the digital context. There is also a recognition that a framework is essential to guide future HCPs to yield a profound understanding and to provide remediation strategies in the rapidly advancing medical field in digital realm.
{"title":"Reclaiming the concept of professionalism in the digital context: a principle-based concept analysis.","authors":"Shaista Salman Guraya,Salman Yousuf Guraya,Fiza Rashid-Doubell,Salim Fredericks,Denis W Harkin,Mohd Zarawi Bin Mat Nor,Muhamad Saiful Bahri Yusoff","doi":"10.1080/07853890.2024.2398202","DOIUrl":"https://doi.org/10.1080/07853890.2024.2398202","url":null,"abstract":"BACKGROUNDThere has been an alarming surge in the usage of social networking sites (SNSs) by healthcare professionals (HCPs) without adherence to the principles of professionalism. The widespread use of SNSs in medical practices has been coupled with reports of breaches of professional behaviors. Despite the benefits of SNSs, skepticism prevails about a clearly defined role for SNSs within medicine based upon the core principles of professionalism. Thus, there is a need to understand the manifestations of professionalism in the digital context, classically known as e-professionalism. This study systematically examines HCPs' perceptions of e-professionalism to advance a thorough understanding of e-professionalism.METHODSThis concept analysis was performed using the principle-based approach of Penrod and Hupcey. In January 2023, we searched the databases of PubMed and ISI Web of Science for English-language articles specific to 'e-professionalism' in the medical field. The final selected research corpus of 63 articles was analyzed in this study.RESULTSA comprehensive analysis of the selected articles highlighted that e-professionalism is an epistemologically mature and distinct concept by a standard definition. However, inconsistencies in conceptual meanings were reported due to varied interpretations despite digital literacy. The pragmatic utility showed a lack of sound methodological and philosophical paradigms. Perhaps the rapid technological advancements and manifestations have hampered linguistic maturity. However, logically, e-professionalism is perceived as an extension of conventional professionalism but with a focus on a distinct framework with a set of attributes to be digitally relevant.CONCLUSIONThis study identifies a scarcity of research about the collective perspective of essential stakeholders, underpinning the need to further explore e-professionalism due to its emerging complex nature within the digital context. There is also a recognition that a framework is essential to guide future HCPs to yield a profound understanding and to provide remediation strategies in the rapidly advancing medical field in digital realm.","PeriodicalId":8371,"journal":{"name":"Annals of medicine","volume":"46 1","pages":"2398202"},"PeriodicalIF":4.4,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142210097","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-12DOI: 10.1080/07853890.2024.2402071
Weiqiang Liu,Jinshuang Song,Yanmei Zhu,Tong Zhang,Xiaoyi Cong,Xiaojin Luo,Liang Hu
BACKGROUNDThis study aimed to evaluate the efficiency of noninvasive prenatal screening (NIPS) technology in screening for microdeletions in the 7q11.23 region.METHODS19,607 pregnant women underwent NIPS in our hospital. Maternal peripheral cell-free foetal DNA (cffDNA) was routinely screened for aneuploidy by cffDNA enrichment and simultaneously analyzed for pathogenic copy number variants (CNVs). The Williams syndrome (WS) 7q11.23 region was targeted in this study. Chromosomal microarray analysis (CMA) was used to verify the screen-positive samples.RESULTSThe mean concentration of cffDNA before and after enrichment increased from 9.44% to 19.32%, with a statistically significant difference. Two out of 19,607 samples tested for CNVs were found to have a heterozygous deletion at the 7q11.23 region, indicating a high risk for WS. CMA results confirmed the 1.5 megabase (Mb) deletions at the 7q11.23 region in amniotic fluid samples. One of the two WS foetuses had a small left ventricle by ultrasound screening, and the other did not have a significant cardiovascular abnormality phenotype.CONCLUSIONSNIPS screening for Williams syndrome can be achieved by enriching cell-free foetal DNA and improving bioinformatic analysis algorithms.
{"title":"Noninvasive prenatal screening and diagnosis of two fetuses with Williams syndrome in a cohort of 19,607 pregnancies.","authors":"Weiqiang Liu,Jinshuang Song,Yanmei Zhu,Tong Zhang,Xiaoyi Cong,Xiaojin Luo,Liang Hu","doi":"10.1080/07853890.2024.2402071","DOIUrl":"https://doi.org/10.1080/07853890.2024.2402071","url":null,"abstract":"BACKGROUNDThis study aimed to evaluate the efficiency of noninvasive prenatal screening (NIPS) technology in screening for microdeletions in the 7q11.23 region.METHODS19,607 pregnant women underwent NIPS in our hospital. Maternal peripheral cell-free foetal DNA (cffDNA) was routinely screened for aneuploidy by cffDNA enrichment and simultaneously analyzed for pathogenic copy number variants (CNVs). The Williams syndrome (WS) 7q11.23 region was targeted in this study. Chromosomal microarray analysis (CMA) was used to verify the screen-positive samples.RESULTSThe mean concentration of cffDNA before and after enrichment increased from 9.44% to 19.32%, with a statistically significant difference. Two out of 19,607 samples tested for CNVs were found to have a heterozygous deletion at the 7q11.23 region, indicating a high risk for WS. CMA results confirmed the 1.5 megabase (Mb) deletions at the 7q11.23 region in amniotic fluid samples. One of the two WS foetuses had a small left ventricle by ultrasound screening, and the other did not have a significant cardiovascular abnormality phenotype.CONCLUSIONSNIPS screening for Williams syndrome can be achieved by enriching cell-free foetal DNA and improving bioinformatic analysis algorithms.","PeriodicalId":8371,"journal":{"name":"Annals of medicine","volume":"22 1","pages":"2402071"},"PeriodicalIF":4.4,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142210121","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-12DOI: 10.1080/07853890.2024.2402072
Zuyi Ma,Zhenchong Li,Jiasheng Cao,Jia Sun,Shanzhou Huang,Qi Zhou,Binglu Li
Curative resection stands as the sole potential cure for gallbladder cancer (GBC); nevertheless, a dearth of knowledge persists regarding long-term follow-up data and prognostic factors that hinder achieving a cure post-surgery. A retrospective cohort study was conducted by analyzing pathologically confirmed initial resections for GBC between 2000 and 2013 across three Chinese medical centers. The concept of observed cure refers to a 10-year survival period devoid of any disease recurrence. Employing a semiparametric proportional hazards mixture cure model enabled the identification of clinicopathological factors impeding a cure for GBC post-surgery. In our current study, a total of 331 patients were included, with a follow-up period exceeding a decade. The median overall survival (OS) was recorded at 31.6 months, with 39 patients (11.78%) achieving a 10-year OS, classified as 10-year survivors. Within this subset, 36 patients reached a 10-year relapse-free survival, denoting cure, and yielding an observed cure rate of 10.88%. Notably, factors such as combined surgical resection involving invaded organs, positive lymph node metastasis, and R1 resection (below 1%) were identified as virtually precluding a cure. Additionally, patients with T3-4 stage, hepatic invasion, advanced AJCC stage or poor tumor differentiation exhibited a low likelihood of achieving cure (below 5%). The discovery of these prognostic factors holds significant value in tailoring individualized treatment strategies and enhancing clinical decision-making processes.
{"title":"What eliminates the chance for cure: a multi-center evaluation on 10-year follow-up of gallbladder cancer after surgical resection.","authors":"Zuyi Ma,Zhenchong Li,Jiasheng Cao,Jia Sun,Shanzhou Huang,Qi Zhou,Binglu Li","doi":"10.1080/07853890.2024.2402072","DOIUrl":"https://doi.org/10.1080/07853890.2024.2402072","url":null,"abstract":"Curative resection stands as the sole potential cure for gallbladder cancer (GBC); nevertheless, a dearth of knowledge persists regarding long-term follow-up data and prognostic factors that hinder achieving a cure post-surgery. A retrospective cohort study was conducted by analyzing pathologically confirmed initial resections for GBC between 2000 and 2013 across three Chinese medical centers. The concept of observed cure refers to a 10-year survival period devoid of any disease recurrence. Employing a semiparametric proportional hazards mixture cure model enabled the identification of clinicopathological factors impeding a cure for GBC post-surgery. In our current study, a total of 331 patients were included, with a follow-up period exceeding a decade. The median overall survival (OS) was recorded at 31.6 months, with 39 patients (11.78%) achieving a 10-year OS, classified as 10-year survivors. Within this subset, 36 patients reached a 10-year relapse-free survival, denoting cure, and yielding an observed cure rate of 10.88%. Notably, factors such as combined surgical resection involving invaded organs, positive lymph node metastasis, and R1 resection (below 1%) were identified as virtually precluding a cure. Additionally, patients with T3-4 stage, hepatic invasion, advanced AJCC stage or poor tumor differentiation exhibited a low likelihood of achieving cure (below 5%). The discovery of these prognostic factors holds significant value in tailoring individualized treatment strategies and enhancing clinical decision-making processes.","PeriodicalId":8371,"journal":{"name":"Annals of medicine","volume":"1 1","pages":"2402072"},"PeriodicalIF":4.4,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142210098","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-11DOI: 10.1080/07853890.2024.2399759
Yi Li,Xiaomin Xiong,Xiaohua Liu,Mengke Xu,Boping Yang,Xiaoju Li,Yu Li,Bo Lin,Bo Xu
BACKGROUNDThe status of BRCA1/2 genes plays a crucial role in the treatment decision-making process for multiple cancer types. However, due to high costs and limited resources, a demand for BRCA1/2 genetic testing among patients is currently unmet. Notably, not all patients with BRCA1/2 mutations achieve favorable outcomes with poly (ADP-ribose) polymerase inhibitors (PARPi), indicating the necessity for risk stratification. In this study, we aimed to develop and validate a multimodal model for predicting BRCA1/2 gene status and prognosis with PARPi treatment.METHODSWe included 1695 slides from 1417 patients with ovarian, breast, prostate, and pancreatic cancers across three independent cohorts. Using a self-attention mechanism, we constructed a multi-instance attention model (MIAM) to detect BRCA1/2 gene status from hematoxylin and eosin (H&E) pathological images. We further combined tissue features from the MIAM model, cell features, and clinical factors (the MIAM-C model) to predict BRCA1/2 mutations and progression-free survival (PFS) with PARPi therapy. Model performance was evaluated using area under the curve (AUC) and Kaplan-Meier analysis. Morphological features contributing to MIAM-C were analyzed for interpretability.RESULTSAcross the four cancer types, MIAM-C outperformed the deep learning-based MIAM in identifying the BRCA1/2 genotype. Interpretability analysis revealed that high-attention regions included high-grade tumors and lymphocytic infiltration, which correlated with BRCA1/2 mutations. Notably, high lymphocyte ratios appeared characteristic of BRCA1/2 mutations. Furthermore, MIAM-C predicted PARPi therapy response (log-rank p < 0.05) and served as an independent prognostic factor for patients with BRCA1/2-mutant ovarian cancer (p < 0.05, hazard ratio:0.4, 95% confidence interval: 0.16-0.99).CONCLUSIONSThe MIAM-C model accurately detected BRCA1/2 gene status and effectively stratified prognosis for patients with BRCA1/2 mutations.
{"title":"Predicting BRCA mutation and stratifying targeted therapy response using multimodal learning: a multicenter study.","authors":"Yi Li,Xiaomin Xiong,Xiaohua Liu,Mengke Xu,Boping Yang,Xiaoju Li,Yu Li,Bo Lin,Bo Xu","doi":"10.1080/07853890.2024.2399759","DOIUrl":"https://doi.org/10.1080/07853890.2024.2399759","url":null,"abstract":"BACKGROUNDThe status of BRCA1/2 genes plays a crucial role in the treatment decision-making process for multiple cancer types. However, due to high costs and limited resources, a demand for BRCA1/2 genetic testing among patients is currently unmet. Notably, not all patients with BRCA1/2 mutations achieve favorable outcomes with poly (ADP-ribose) polymerase inhibitors (PARPi), indicating the necessity for risk stratification. In this study, we aimed to develop and validate a multimodal model for predicting BRCA1/2 gene status and prognosis with PARPi treatment.METHODSWe included 1695 slides from 1417 patients with ovarian, breast, prostate, and pancreatic cancers across three independent cohorts. Using a self-attention mechanism, we constructed a multi-instance attention model (MIAM) to detect BRCA1/2 gene status from hematoxylin and eosin (H&E) pathological images. We further combined tissue features from the MIAM model, cell features, and clinical factors (the MIAM-C model) to predict BRCA1/2 mutations and progression-free survival (PFS) with PARPi therapy. Model performance was evaluated using area under the curve (AUC) and Kaplan-Meier analysis. Morphological features contributing to MIAM-C were analyzed for interpretability.RESULTSAcross the four cancer types, MIAM-C outperformed the deep learning-based MIAM in identifying the BRCA1/2 genotype. Interpretability analysis revealed that high-attention regions included high-grade tumors and lymphocytic infiltration, which correlated with BRCA1/2 mutations. Notably, high lymphocyte ratios appeared characteristic of BRCA1/2 mutations. Furthermore, MIAM-C predicted PARPi therapy response (log-rank p < 0.05) and served as an independent prognostic factor for patients with BRCA1/2-mutant ovarian cancer (p < 0.05, hazard ratio:0.4, 95% confidence interval: 0.16-0.99).CONCLUSIONSThe MIAM-C model accurately detected BRCA1/2 gene status and effectively stratified prognosis for patients with BRCA1/2 mutations.","PeriodicalId":8371,"journal":{"name":"Annals of medicine","volume":"266 1","pages":"2399759"},"PeriodicalIF":4.4,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142210100","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-11DOI: 10.1080/07853890.2024.2401122
Kirsten Paulus, Sarah Bauerle Bass, Whitney Cabey, Katie Singley, Caseem Luck, Ariel Hoadley, Molly Kerstetter, Alexandru-Mircea Rotaru, Elizabeth Knight, Swathi Murali, Shreya Verma, Imani Wilson-Shabazz, Heather Gardiner
Underlying causes of vaccine hesitancy could significantly affect successful uptake of the SARS-CoV2 vaccine booster doses during new waves of COVID-19. Booster rates among US adults are far below ...
{"title":"Using cluster analysis to explore COVID-19 vaccine booster hesitancy by levels of medical mistrust in fully vaccinated US adults","authors":"Kirsten Paulus, Sarah Bauerle Bass, Whitney Cabey, Katie Singley, Caseem Luck, Ariel Hoadley, Molly Kerstetter, Alexandru-Mircea Rotaru, Elizabeth Knight, Swathi Murali, Shreya Verma, Imani Wilson-Shabazz, Heather Gardiner","doi":"10.1080/07853890.2024.2401122","DOIUrl":"https://doi.org/10.1080/07853890.2024.2401122","url":null,"abstract":"Underlying causes of vaccine hesitancy could significantly affect successful uptake of the SARS-CoV2 vaccine booster doses during new waves of COVID-19. Booster rates among US adults are far below ...","PeriodicalId":8371,"journal":{"name":"Annals of medicine","volume":"8 1","pages":""},"PeriodicalIF":4.4,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142210101","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
京公网安备 11010802042870号
京ICP备2023020795号-1
扫码关注我们
求助内容：
应助结果提醒方式：