bluuebunny/crossref_metadata_2025_split huggingface dataset:
Rapid-onset dystonia-parkinsonism is associated with reduced cerebral blood flow without gray matter changes
Authors: Whitlow Christopher T. , Atcheson Kyle M. , Snively Beverly M. , Cook Jared F. , Kim Jeongchul , Haq Ihtsham U. , Sweadner Kathleen J. , Ozelius Laurie J. , Brashear Allison 
Published: January 2023

PurposePrevious research showed discrete neuropathological changes associated with rapid-onset dystonia-parkinsonism (RDP) in brains from patients with an ATP1A3 variant, specifically in areas that mediate motor function. The purpose of this study was to determine if magnetic resonance imaging methodologies could identify differences between RDP patients and variant-negative controls in areas of the brain that mediate motor function in order to provide biomarkers for future treatment or prevention trials.MethodsMagnetic resonance imaging voxel-based morphometry and arterial spin labeling were used to measure gray matter volume and cerebral blood flow, respectively, in cortical motor areas, basal ganglia, thalamus, and cerebellum, in RDP patients with ATP1A3 variants (n = 19; mean age = 37 ± 14 years; 47% female) and variant-negative healthy controls (n = 11; mean age = 34 ± 19 years; 36% female).ResultsWe report age and sex-adjusted between group differences, with decreased cerebral blood flow among patients with ATP1A3 variants compared to variant-negative controls in the thalamus (p = 0.005, Bonferroni alpha level &lt; 0.007 adjusted for regions). There were no statistically significant between-group differences for measures of gray matter volume.ConclusionsThere is reduced cerebral blood flow within brain regions in patients with ATP1A3 variants within the thalamus. Additionally, the lack of corresponding gray matter volume differences may suggest an underlying functional etiology rather than structural abnormality.
Brain function effects of autonomous sensory meridian response (ASMR) video viewing
Authors: Sakurai Noriko , Nagasaka Kazuaki , Takahashi Shingo , Kasai Satoshi , Onishi Hideaki , Kodama Naoki 
Published: January 2023

BackgroundAutonomous sensory meridian response (ASMR) is the sensation of tingling from audiovisual stimuli that leads to positive emotions. ASMR is used among young people to relax, induce sleep, reduce stress, and alleviate anxiety. However, even without experiencing tingling, ASMR is used by many young people to seek relaxation. Auditory stimulation in ASMR is thought to play the most important role among its triggers, and previous studies have used a mixture of auditory and visual stimulation and auditory stimulation. This is the first study to approach the differences between the effects of direct audiovisual and auditory stimulation from the perspective of brain function using functional magnetic resonance imaging (fMRI) and to clarify the effects of ASMR, which attracts many young people.MethodsThe subjects were 30 healthy subjects over 19 years old or older who had not experienced tingling. Brain function was imaged by fMRI while watching ASMR videos or listening to the sound files only. We administered a questionnaire based on a Likert scale to determine if the participants felt a “relaxed mood” and “tingling mood” during the task.ResultsSignificant activation was found in the visual cortex for audiovisual stimulation and in the visual and auditory cortex for auditory stimulation. In addition, activation of characteristic sites was observed. The specific sites of activation for audiovisual stimulation were the middle frontal gyrus and the left nucleus accumbens, while the specific sites of activation for auditory stimulation were the bilateral insular cortices. The questionnaire showed no significant differences in either “relaxed mood” or “tingling mood” in response to auditory and visual stimulation or auditory stimulation alone.ConclusionThe results of this study showed that there was a clear difference between auditory and audiovisual stimulation in terms of the areas of activation in the brain, but the questionnaire did not reveal any difference in the subjects’ mood. Audiovisual stimulation showed activation of the middle frontal gyrus and the nucleus accumbens, whereas auditory stimulation showed activation of the insular cortex. This difference in brain activation sites suggests a difference in mental health effects between auditory and audiovisual stimulation. However, future research on comparisons between those who experience tingling and those who do not, as well as investigations of physiological indices, and examination of the relationship with activated areas in the brain may show that ASMR is useful for mental health.
Changes in French purchases of pulses during an FAO awareness campaign
Authors: Badji Ikpidi , Caillavet France , Amiot Marie Josephe 
Published: January 2023

BackgroundPulses can play a key role in a well-balanced diet and are now recognized for their health and sustainability benefits. However, consumption remains quite low, motivating promotion efforts such as the “International Year of Pulses” declared by the Food and Agriculture Organization (FAO) in 2016. The present study aims to evaluate the changes in the purchase of pulses before and after the FAO's awareness campaign promoting the consumption of pulses in France and investigate the potential differences across sub-populations.MethodsPurchase data come from Kantar Worldpanel 2014–2017. First, in order to understand demand for pulses, the influence of sociodemographic variables on the purchase of pulses in different forms (raw, processed, ultra-processed) is analyzed using a Box-Cox heteroskedastic double-hurdle model. Then, changes in purchasing before and after the FAO campaign were estimated using a two-way fixed-effects model, controlling for price and sociodemographic variables.ResultsOn that period, the purchasing of pulses increased by 8.4% overall. The increase was greater for younger participants (+11.8%), people living in urban areas with over 200,000 inhabitants (+8.4%), and lower-income households (+7.1%). The 8.4% increase observed indicated that there were gradual preference change in favor of pulses and the impact of the awareness campaign was to boost expenditure on pulses by a further 2%.ConclusionThe FAO campaign coincided with an increase in the purchasing of pulses and may have had an enhancing effect. However, consumption still remains below the level advised by dietary guidelines. There is a need for more public information and communication on the health and sustainability benefits of pulses, the consumption of which can be promoted through supply and education interventions.JEL codesD12; Q18; I18.
Interactions between genetic and lifestyle factors on cardiometabolic disease-related outcomes in Latin American and Caribbean populations: A systematic review
Authors: Wuni Ramatu , Ventura Eduard F. , Curi-Quinto Katherine , Murray Claudia , Nunes Richard , Lovegrove Julie A. , Penny Mary , Favara Marta , Sanchez Alan , Vimaleswaran Karani Santhanakrishnan 
Published: January 2023

IntroductionThe prevalence of cardiometabolic diseases has increased in Latin American and the Caribbean populations (LACP). To identify gene-lifestyle interactions that modify the risk of cardiometabolic diseases in LACP, a systematic search using 11 search engines was conducted up to May 2022.MethodsEligible studies were observational and interventional studies in either English, Spanish, or Portuguese. A total of 26,171 publications were screened for title and abstract; of these, 101 potential studies were evaluated for eligibility, and 74 articles were included in this study following full-text screening and risk of bias assessment. The Appraisal tool for Cross-Sectional Studies (AXIS) and the Risk Of Bias In Non-Randomized Studies—of Interventions (ROBINS-I) assessment tool were used to assess the methodological quality and risk of bias of the included studies.ResultsWe identified 122 significant interactions between genetic and lifestyle factors on cardiometabolic traits and the vast majority of studies come from Brazil (29), Mexico (15) and Costa Rica (12) with FTO, APOE, and TCF7L2 being the most studied genes. The results of the gene-lifestyle interactions suggest effects which are population-, gender-, and ethnic-specific. Most of the gene-lifestyle interactions were conducted once, necessitating replication to reinforce these results.DiscussionThe findings of this review indicate that 27 out of 33 LACP have not conducted gene-lifestyle interaction studies and only five studies have been undertaken in low-socioeconomic settings. Most of the studies were cross-sectional, indicating a need for longitudinal/prospective studies. Future gene-lifestyle interaction studies will need to replicate primary research of already studied genetic variants to enable comparison, and to explore the interactions between genetic and other lifestyle factors such as those conditioned by socioeconomic factors and the built environment. The protocol has been registered on PROSPERO, number CRD42022308488.Systematic review registrationhttps://clinicaltrials.gov, identifier CRD420223 08488.
Libyan cancer patients at King Hussein Cancer Center for more than a decade, the current situation, and a future vision
Authors: Erashdi Madiha , Al-Ani Abdallah , Mansour Asem , Al-Hussaini Maysa 
Published: January 2023

BackgroundSince 2011, the Libyan civil war crisis had affected all dimensions of livelihood including cancer care. This has resulted in a steady incline in the number of Libyan patients with cancer seeking oncologic care and management in Tunisia, Egypt and Jordan, among others. King Hussein Cancer Center (KHCC) has been one of the main destinations for Libyan patients with cancer for more than a decade.AimWe are reporting on the characteristics of Libyan patients with cancer presenting to KHCC during the past fourteen years.MethodsWe performed a retrospective chart review of all Libyan patients with cancer presenting to KHCC between 2006 and 2019.ResultsA total of 3170 records were included in the final analysis. The overall sample was predominantly adults (71%) with a male-to-female ratio of 1:1.2. Overall, the most common referred cancers to KHCC were breast (21%), hematolymphoid (HL) (17%), and gastrointestinal tract (GIT) (16.2%) cancers. Breast cancer was the most common among adult females (41.7%), GIT among adult males (23.6%), and HL among pediatrics (38.5%). Around 37.8% of patients presented with distant metastasis at their first encounter at KHCC, among which 14.7% were candidates for palliative care.ConclusionThe sustenance of treatment for Libyan patients with cancer requires extensive collaboration between governmental and private sectors. The Libyan oncological landscape could benefit from national screening and awareness programs, twining programs and telemedicine, introduction of multidisciplinary boards, and the formulation of a national cancer registry. Adopting the successful models at KHCC can help to augment the oncology services within the Libyan healthcare sector.
Analysis of the potential association between ferroptosis and immune in hepatocellular carcinoma and their relationship with prognosis
Authors: Wen Kai , Yang Feng , Hu Lei , Shi Juanyi , Mui Sintim , Wang Weidong , Liao Hao , Li Huoming , Xiao Zhiyu , Yan Yongcong 
Published: January 2023

BackgroundThe development of targeted therapy and immunotherapy has enriched the treatment of hepatocellular carcinoma (HCC), however, have had poor or no reponse, or even no response. Previous research suggested that ferroptosis and tumor immune microenvironment (TIME) may have a fundamental impact on efficacy during HCC immunotherapy and targeted therapy. Therefore, there is a clinical need to develop a signature that categorizes HCC patients in order to make more accurate clinical decisions.MethodsClinical data and gene expression data of HCC patients were obtained from The Cancer Genome Atlas (TCGA) portal and International Cancer Genome Consortium (ICGC) portal. To identify ferroptosis-related immune-related genes (ferroptosis-related IRGs), Pearson correlation analysis was conducted. The ferroptosis-related IRGs prognostic signature (FIPS) was constructed using Univariate Cox and LASSO Cox algorithms. The predictive effectiveness of FIPS was evaluated using Receiver Operating Characteristic (ROC) curves and survivorship curve. The correlation ship between FIPS and TIME was evaluated using single-sample Gene Set Enrichment Analysis (ssGSEA) and CIBERSORT. The relationship between FIPS and immunotherapy responsiveness was evaluated using immunophenoscore. The expression level of 10 ferroptosis-related IRGs in normal liver tissues and HCC tissues was compared using immunohistochemistry. Finally, we established a nomogram (based on FIPS, TNM stage, and age) for clinical application.ResultsThe FIPS was established with ten ferroptosis-related IRGs. The high-FIPS subgroup showed a poor clinical prognosis and an obviously higher proportion of HCC patients with advanced TNM stage, high WHO grade and high alpha fetoprotein(AFP) value. Analysis of TIME indicated that patients in the high-FIPS subgroup may be in immunosuppressed state. Meanwhile, we found that ferroptosis may be inhibited in the high-FIPS subgroup and this subgroup may be impervious to immunotherapy and sorafenib.ConclusionWe constructed a novel potential prognostic signature for HCC patients that predicts overall survival, ferroptosis and immune status, sorafenib sensitivity, and immunotherapy responsiveness.
Acute promyelocytic leukemia with FIP1L1::RARA fusion gene: The clinical utility of transcriptome sequencing and bioinformatic analyses
Authors: Liu Guanghua , Long Jiangwen , Chen Yuyu , Li Lingqian , Huan Xisha , Long Panpan 
Published: January 2023

BackgroundAcute promyelocytic leukemia (APL) is typically characterized by the presence of coagulopathy and the PML::RARA fusion gene. The FIP1L1::RARA has been reported as a novel fusion gene, but studies on its pathogenesis are limited.ObjectivesA FIP1L1::RARA fusion in a child finally diagnosed as APL was reported. RNA sequencing (RNA-seq) of six patients (three cases of acute lymphoblastic leukemia (ALL), one case of myelodysplastic syndrome (MDS), one case of acute megakaryoblastic leukemia (M7), and one case of APL with FIP1L1::RARA) were performed.MethodsTranscriptome analysis of six patients was performed by RNA-seq. The heat map was used for showing the RNA expression profile, the volcano plot for identifying differential expression genes (DEGs), and the KEGG Orthology-Based Annotation System (KOBAS) online biological information database for KEGG pathway enrichment analysis.ResultsObvious differences between APL with FIP1L1::RARA and hematologic malignancies were identified. 1060 common differentially expressed genes (co-DEGs) were detected between APL with FIP1L1::RARA vs ALL and APL with FIP1L1::RARA vs myeloid neoplasms (MDS, M7), the up-regulated genes were mainly mapped into platelet activation, cancer, AMPK signaling pathway, PI3K-Akt signaling pathway, and MAPK signaling pathway. The down-regulated genes were significantly associated with TNF signaling pathway, Rap1 signaling pathway, Age-RAGE signaling pathway, and apoptosis.ConclusionA FIP1L1::RARA fusion in a child finally diagnosed as APL was reported. RNA-seq may provide a new diagnostic method when RARA rearrangements fail to be identified by conventional methods. In the analysis of co-DEGs between case vs ALL and case vs myeloid neoplasms, the up-regulated and down-regulated genes were enriched in different signaling pathways. Further experimental studies are needed to identify pathogenesis and treatment for APL with FIP1L1::RARA.
Tumor-informed or tumor-agnostic circulating tumor DNA as a biomarker for risk of recurrence in resected colorectal cancer patients
Authors: Chan Hiu Ting , Nagayama Satoshi , Otaki Masumi , Chin Yoon Ming , Fukunaga Yosuke , Ueno Masashi , Nakamura Yusuke , Low Siew-Kee 
Published: January 2023

IntroductionCirculating tumor DNA (ctDNA) has been increasingly recognized as a promising minimally-invasive biomarker that could identify patients with minimal residual disease and a high risk of recurrence after definitive treatment. In this study, we’ve compared the clinical utility and sensitivity of 2 different approaches to ctDNA analyses: tumor-informed and tumor-agnostic in the management of colorectal (CRC) patients. The clinical benefits of a single timepoint ctDNA analysis compared to serial ctDNA monitoring after definitive treatment were also evaluated to uncover the ideal surveillance protocol.MethodsPatient-paired resected tumor tissues, peripheral blood cells, and a total of 127 pre-operative and serial plasma cell-free DNA (cfDNA) samples after definitive treatment from 38 CRC patients that had undergone curative intent surgery were analyzed using a commercial NGS cfDNA panel.ResultsUp to 84% (32/38) of the recruited patients were detected with at least 1 genomic alteration from the tumor tissues that could be monitored using the tumor-informed ctDNA approach and none of the detected alterations were clonal hematopoiesis (CH) related. In contrast, 37% (14/38) of patients were detected with at least 1 monitoring alteration after exclusion of CH mutations using the tumor-agnostic approach. Serial plasma samples after definitive therapy were available for 31 patients. In the landmark ctDNA analysis, 24% (7/29) of patients had detectable ctDNA and were more likely to relapse than ctDNA-negative patients (p &lt; 0.05). The landmark analysis sensitivity and specificity for recurrence were 67% and 87%, respectively. The incorporation of longitudinal ctDNA analysis at 6-months intervals improved the sensitivity to 100%. The median variant allele frequency (VAF) of the ctDNA mutations detected during surveillance was 0.028% (range: 0.018-0.783), where up to 80% (8/10) of the mutations were detected at VAF lower than the tumor-agnostic detection limit of 0.1%. Utilizing the tumor-agnostic approach reduced the recurrence detection sensitivity to 67% (4/6). Serial ctDNA analyses predicted disease recurrence at a median of 5 months ahead of radiological imaging.ConclusionLongitudinal monitoring using tumor-informed ctDNA testing shows high analytical sensitivity, low probability of false-positive results due to CH mutations, and improved sensitivity in detecting recurrence which may modify the clinical management of CRC.
A novel cuproptosis-related LncRNA signature: Prognostic and therapeutic value for low grade glioma
Authors: Wen Jun , Zhao Wenting , Shu Xiaolei 
Published: January 2023

BackgroundAs a common primary intracranial tumor, the diagnosis and therapy of low-grade glioma (LGG) remains a pivotal barrier. Cuproptosis, a new way induces cell death, has attracted worldwide attention. However, the relationship between cuproptosis and LGG remains unknown. Our study is all about finding out if there are any genes related to coproptosis that can be used to predict the outcome of LGG.MethodsRNA data and clinical information were selected from Cancer Genome Atlas (TCGA) datasets and the Genotype-Tissue Expression (GTEx), 5 lncRNAs (GAS5.AS1, MYLK.AS1, AC142472.1, AC011346.1, AL359643.3) were identified by Cox univariate and multivariate regression, as well as LASSO Cox regression. In the training and test sets, a dual validation of the predictive signature comprised of these 5 lncRNAs was undertaken. The findings demonstrate that the risk model is able to predict the survival regression of LGG patients and has a good performance in either the KM curve approach or the ROC curve. GO, GSEA and KEGG were carried out to explore the possible molecular processes that affecting the prognosis of LGG. The characteristics of immune microenvironment were investigated by using CIBERSORT, ESTIMATE and ssGSEA.ResultsWe identified five lncRNAs related with cuproptosis that were closely associated with the prognosis of LGG and used these five lncRNAs to develop a risk model. Using this risk model, LGG patients were then divided into high-risk and low-risk groups. The two patient groups had significantly distinct survival characteristics. Analyses of Gene Ontology (GO) and the Kyoto Encyclopedia of Genes and Genomes (KEGG) revealed that the differential genes of the two patient groups were primarily concentrated in neural active ligand-receptor interaction and cytokine-cytokine receptor interaction. The ssGSEA score determined the information related to immune infiltration, and the two groups were differentially expressed in immune subpopulations such as T cells and B cells as well.ConclusionOur study discovered 5 cuproptosis-related lncRNAs which contribute to predicting patients’ survival of LGG and provide ideas for the exploration of new targets for LGG in the future.
Intraoperative oxygen tension and redox homeostasis in Pseudomyxoma peritonei: A short case series
Authors: Valenzuela-Molina Francisca , Bura Florina I. , Vázquez-Borrego Mari C. , Granados-Rodríguez Melissa , Rufián-Andujar Blanca , Rufián-Peña Sebastián , Casado-Adam Ángela , Sánchez-Hidalgo Juan Manuel , Rodríguez-Ortiz Lidia , Ortega-Salas Rosa , Martínez-López Ana , Michán Carmen , Alhama José , Arjona-Sánchez Álvaro , Romero-Ruiz Antonio 
Published: January 2023

IntroductionPseudomyxoma peritonei (PMP) is a rare malignant disease characterized by a massive multifocal accumulation of mucin within the peritoneal cavity. The current treatment option is based on complete cytoreductive surgery combined with hyperthermic intraperitoneal chemotherapy. However, the recurrence is frequent with subsequent progression and death. To date, most of the studies published in PMP are related to histological and genomic analyses. Thus, the need for further studies unveiling the underlying PMP molecular mechanisms is urgent. In this regard, hypoxia and oxidative stress have been extensively related to tumoral pathologies, although their contribution to PMP has not been elucidated.MethodsIn this manuscript, we have evaluated, for the first time, the intratumoral real-time oxygen microtension (pO2mt) in the tumor (soft and hard mucin) and surrounding healthy tissue from five PMP patients during surgery. In addition, we measured hypoxia (Hypoxia Inducible Factor-1a; HIF-1α) and oxidative stress (catalase; CAT) markers in soft and hard mucin from the same five PMP patient samples and in five control samples.ResultsThe results showed low intratumoral oxygen levels, which were associated with increased HIF-1α protein levels, suggesting the presence of a hypoxic environment in these tumors. We also found a significant reduction in CAT activity levels in soft and hard mucin compared with healthy tissue samples.DiscussionIn conclusion, our study provides the first evidence of low intratumoral oxygen levels in PMP patients associated with hypoxia and oxidative stress markers. However, further investigation is required to understand the potential role of oxidative stress in PMP in order to find new therapeutic strategies.