bluuebunny/crossref_metadata_2025_split huggingface dataset:
Impact of redox-related genes on tumor microenvironment immune characteristics and prognosis of high-grade gliomas
Authors: Yuan Yunbo , Zuo Mingrong , Zhang Shuxin , Chen Siliang , Feng Wentao , Wang Zhihao , Chen Mina , Liu Yanhui 
Published: May 2023

IntroductionHigh-grade glioma (HGG) defines a group of brain gliomas characterized by contrast enhancement, high tumor heterogeneity, and poor clinical outcome. Disturbed reduction–oxidation (redox) balance has been frequently associated with the development of tumor cells and their microenvironment (TME).MethodsTo study the influence of redox balance on HGGs and their microenvironment, we collected mRNA-sequencing and clinical data of HGG patients from TCGA and CGGA databases and our own cohort. Redox-related genes (ROGs) were defined as genes in the MSigDB pathways with keyword “redox” that were differentially expressed between HGGs and normal brain samples. Unsupervised clustering analysis was used to discover ROG expression clusters. Over-representation analysis (ORA), gene set enrichment analysis (GSEA) and gene set variation analysis (GSVA) were also employed to understand the biological implication of differentially expressed genes between HGG clusters. CIBERSORTx and ESTIMATE were used to profile the immune TME landscapes of tumors, and TIDE was used to evaluated the potential response to immune checkpoint inhibitors. Least Absolute Shrinkage and Selection Operator (LASSO) Cox regression was used to construct HGG-ROG expression risk signature (GRORS).ResultsSeventy-five ROGs were found and consensus clustering using the expression profile of ROGs divided the both IDH-mutant (IDHmut) and IDH-wildtype (IDHwt) HGGs into subclusters with different prognosis. Functional enrichment analysis revealed that the differential aggressiveness between redox subclusters in IDHmut HGGs were significantly associated with cell cycle regulation pathways, while IDHwt HGG redox subclusters showed differentially activated immune-related pathways. In silico TME analysis on immune landscapes in the TME showed that the more aggressive redox subclusters in both IDHmut and IDHwt HGGs may harbor a more diverse composition of tumor-infiltrating immune cells, expressed a higher level of immune checkpoints and were more likely to respond to immune checkpoint blockade. Next, we established a GRORS which showed AUCs of 0.787, 0.884, and 0.917 in predicting 1–3-year survival of HGG patients in the held-out validation datasets, and the C-index of a nomogram combining the GRORS and other prognostic information reached 0.835.ConclusionBriefly, our results suggest that the expression pattern of ROGs was closely associated with the prognosis as well as the TME immune profile of HGGs, and may serve as a potential indicator for their response to immunotherapies.
Morphological features predicting in-stent stenosis after pipeline implantation for unruptured intracranial aneurysm
Authors: Jin Hengwei , Lv Jian , Li Conghui , Wang Jiwei , Jiang Yuhua , Meng Xiangyu , Li Youxiang 
Published: May 2023

PurposeElongation denotes the regularity of an aneurysm and parent artery. This retrospective research study was conducted to identify the morphological factors that could predict postoperative in-stent stenosis (ISS) after Pipeline Embolization Device (PED) implantation for unruptured intracranial aneurysms (UIAs).MethodsPatients with UIA and treated with PED at our institute between 2015 and 2020 were selected. Preoperative morphological features including both manually measured shape features and radiomics shape features were extracted and compared between patients with and without ISS. Logistic regression analysis was performed for factors associated with postoperative ISS.ResultsA total of 52 patients (18 men and 34 women) were involved in this study. The mean angiographic follow-up time was 11.87 ± 8.26 months. Of the patients, 20 of them (38.46%) were identified with ISS. Multivariate logistic analysis showed that elongation (odds ratio = 0.008; 95% confidence interval, 0.001–0.255; p = 0.006) was an independent risk factor for ISS. The area under the curve (AUC) of the receiver operating characteristic curve(ROC) was 0.734 and the optimal cut-off value of elongation for ISS classification was 0.595. The sensitivity and specificity of prediction were 0.6 and 0.781, respectively. The ISS degree of elongation of less than 0.595 was larger than the ISS degree of elongation of more than 0.595.ConclusionElongation is a potential risk factor associated with ISS after PED implantation for UIAs. The more regular an aneurysm and parent artery, the less likelihood of an ISS occurrence.
Texture analysis of apparent diffusion coefficient maps in predicting the clinical functional outcomes of acute ischemic stroke
Authors: Sun Yi , Zhuang Yuzhong , Zhu Jie , Song Bin , Wang Hao 
Published: May 2023

PurposeTo investigate texture analysis (TA) based on apparent diffusion coefficient (ADC) map in predicting acute ischemic stroke (AIS) prognosis and discriminating TA features in stroke subtypes.MethodsThis retrospective study included patients with AIS between January 2018 and April 2021. The patients were assigned to the favorable [modified Rankin Scale (mRS) score ≤ 2] and unfavorable (mRS score &gt; 2) outcome groups. All patients underwent stroke subtyping according to the Trial of Org 10,172 in Acute Stroke Treatment (TOAST) classification. The TA features were extracted from infarction lesions on the ADC map. The demographic characteristics, clinical characteristics, and texture features were used to construct prediction models with recurrent neural network (RNN). The receiver operating characteristic (ROC) curves were implemented to evaluate the performance of the predictive models.ResultsA total of 1,003 patients (682 male; mean age 65.90 ± 12.44) with AIS having documented the 90-day mRS score were identified, including 840 with favorable outcomes. In the validation set, the area under the curve (AUC) of the predictive model using only clinical characteristics achieved an AUC of 0.56, texture model 0.77, the model combining both clinical and texture features showed better with an AUC of 0.78. The texture feature profiles differed between large artery atherosclerosis (LAA) and small artery occlusion (SAO) subtypes (all p &lt; 0.05). The AUC of combined prediction models for LAA and SAO subtypes was 0.80 and 0.81.ConclusionTexture analysis based on ADC map could be useful as an adjunctive tool for predicting ischemic stroke prognosis.
A comparison of altered white matter microstructure in youth born with congenital heart disease or born preterm
Authors: Easson Kaitlyn , Khairy May , Rohlicek Charles V. , Saint-Martin Christine , Gilbert Guillaume , Nguyen Kim-Anh , Luu Thuy Mai , Couture Élise , Nuyt Anne-Monique , Wintermark Pia , Deoni Sean C. L. , Descoteaux Maxime , Brossard-Racine Marie 
Published: May 2023

IntroductionAlterations to white matter microstructure as detected by diffusion tensor imaging have been documented in both individuals born with congenital heart disease (CHD) and individuals born preterm. However, it remains unclear if these disturbances are the consequence of similar underlying microstructural disruptions. This study used multicomponent driven equilibrium single pulse observation of T1 and T2 (mcDESPOT) and neurite orientation dispersion and density imaging (NODDI) to characterize and compare alterations to three specific microstructural elements of white matter – myelination, axon density, and axon orientation – in youth born with CHD or born preterm.MethodsParticipants aged 16 to 26 years with operated CHD or born ≤33 weeks gestational age and a group of healthy peers of the same age underwent a brain MRI including mcDESPOT and high angular resolution diffusion imaging acquisitions. Using tractometry, average values of myelin water fraction (MWF), neurite density index (NDI), and orientation dispersion index (ODI) were first calculated and compared between groups for 30 white matter bundles. Afterwards, bundle profiling was performed to further characterize the topology of the detected microstructural alterations.ResultsThe CHD and preterm groups both presented with widespread bundles and bundle segments with lower MWF, accompanied by some occurrences of lower NDI, relative to controls. While there were no differences in ODI between the CHD and control groups, the preterm group presented with both higher and lower ODI compared to the control group and lower ODI compared to the CHD group.DiscussionWhile youth born with CHD or born preterm both presented with apparent deficits in white matter myelination and axon density, youth born preterm presented with a unique profile of altered axonal organization. Future longitudinal studies should aim to better understand the emergence of these common and distinct microstructural alterations, which could orient the development of novel therapeutic approaches.
Identification of mutations on the EMD and EYA4 genes associated with Emery–Dreifuss muscular dystrophy and deafness: a case report
Authors: Zambrano Ana Karina , Paz-Cruz Elius , Cadena-Ullauri Santiago , Guevara-Ramírez Patricia , Ruiz-Pozo Viviana A. , Tamayo-Trujillo Rafael , Ibarra-Castillo Rita , Laso-Bayas José Luis , Doménech Nieves , Ibarra-Rodríguez Adriana Alexandra , Hidalgo Ricardo 
Published: May 2023

IntroductionHearing loss is the most common sensory disability, and it is estimated that 50% of cases are caused by genetic factors. One of the genes associated with deafness is the eyes absent homolog 4 (EYA4) gene, a transcription factor related to the development and function of the inner ear. Emery–Dreifuss muscular dystrophy is a rare inherited disease characterized by atrophy and weakness of the humeroperoneal muscles, multi-joint contractures, and cardiac manifestations. It is inherited in an autosomal-dominant, X-linked, or less frequently autosomal recessive manner; one of the genes associated with EDMD is the emerin (EMD) gene.Case descriptionA total of two Ecuadorian siblings aged 57 (Subject A) and 55 (Subject B) were diagnosed with deafness and an unspecified type of muscular dystrophy based on family history and clinical findings. Next-generation sequencing (NGS) using the TruSight Cardio and Inherited Disease kits at the Centro de Investigación Genética y Genómica CIGG, Universidad UTE, was performed. The genetic analyses showed two mutations: a stop mutation in exon 11/20 (NM_004100.4:c.940G&gt;T) of the EYA4 gene and a missense mutation in exon 6 (NM_000117.2:c.548C&gt;G) of the EMD gene.Discussion and conclusionThe in silico predictions described the EYA4 variant as likely pathogenic and the EMD variant as a variant of uncertain significance (VUS). Moreover, an ancestry analysis was performed using 46 Ancestry Informative Insertion/Deletion Markers (AIM-InDels), and the ancestral composition of subject A was 46% African, 26.1% European, and 27.9% American Indian ancestry, whereas the ancestral composition of subject B was 41.3% African, 38.2% European, and 20.5% American Indian ancestry. The present case report describes two Ecuadorian siblings with a mainly African ancestral component, muscular dystrophy, and deafness phenotypes. Moreover, using next-generation sequencing (NGS), a mutation in the EMD and a novel mutation in EYA4 genes possibly associated with the subjects' phenotype were identified and discussed.
Neighborhood-level social vulnerability and individual-level cognitive and motor functioning over time in older non-Latino Black and Latino adults
Authors: Lamar Melissa , Kershaw Kiarri N. , Leurgans Sue E. , Mukherjee R. Reshmi , Lange-Maia Brittney S. , Marquez David X. , Barnes Lisa L. 
Published: May 2023

IntroductionDespite known health disparities in cognitive aging, a comprehensive rationale for the increased burden in older minoritized populations including non-Latino Black and Latino adults has yet to be elucidated. While most work has focused on person-specific risk, studies are increasingly assessing neighborhood-level risk. We evaluated multiple aspects of the environmental milieu that may be critical when considering vulnerability to adverse health outcomes.MethodsWe investigated associations between a Census-tract derived Social Vulnerability Index (SVI) and level of and change in cognitive and motor functioning in 780 older adults (590 non-Latino Black adults, ∼73 years old at baseline; 190 Latinos, ∼70 years old baseline). Total SVI scores (higher = greater neighborhood-level vulnerability) were combined with annual evaluations of cognitive and motor functioning (follow-up ranged from 2 to 18 years). Demographically-adjusted mixed linear regression models tested for associations between SVI and cognitive and motor outcomes in analyses stratified by ethno-racial group.ResultsFor non-Latino Black participants, higher SVI scores were associated with lower levels of global cognitive and motor functioning-specifically, episodic memory, motor dexterity and gait-as well as longitudinal change in visuospatial abilities and hand strength. For Latinos, higher SVI scores were associated with lower levels of global motor functioning only-specifically, motor dexterity; there were no significant associations between SVI and change in motor functioning.DiscussionNeighborhood-level social vulnerability is associated with cognitive and motor functioning in non-Latino Black and Latino older adults, although associations appear to contribute to level more so than longitudinal change.
Factors that influence outcomes and device use for pediatric cochlear implant recipients with unilateral hearing loss
Authors: Park Lisa R. , Gagnon Erika B. , Dillon Margaret T. 
Published: May 2023

IntroductionCandidacy criteria for cochlear implantation in the United States has expanded to include children with single-sided deafness (SSD) who are at least 5 years of age. Pediatric cochlear implant (CI) users with SSD experience improved speech recognition with increased daily device use. There are few studies that report the hearing hour percentage (HHP) or the incidence of non-use for pediatric CI recipients with SSD. The aim of this study was to investigate factors that impact outcomes in children with SSD who use CIs. A secondary aim was to identify factors that impact daily device use in this population.MethodsA clinical database query revealed 97 pediatric CI recipients with SSD who underwent implantation between 2014 and 2022 and had records of datalogs. The clinical test battery included speech recognition assessment for CNC words with the CI-alone and BKB-SIN with the CI plus the normal-hearing ear (combined condition). The target and masker for the BKB-SIN were presented in collocated and spatially separated conditions to evaluate spatial release from masking (SRM). Linear mixed-effects models evaluated the influence of time since activation, duration of deafness, HHP, and age at activation on performance (CNC and SRM). A separate linear mixed-effects model evaluated the main effects of age at testing, time since activation, duration of deafness, and onset of deafness (stable, progressive, or sudden) on HHP.ResultsLonger time since activation, shorter duration of deafness, and higher HHP were significantly correlated with better CNC word scores. Younger age at device activation was not found to be a significant predictor of CNC outcomes. There was a significant relationship between HHP and SRM, with children who had higher HHP experiencing greater SRM. There was a significant negative correlation between time since activation and age at test with HHP. Children with sudden hearing loss had a higher HHP than children with progressive and congenital hearing losses.ConclusionThe present data presented here do not support a cut-off age or duration of deafness for pediatric cochlear implantation in cases of SSD. Instead, they expand on our understanding of the benefits of CI use in this population by reviewing the factors that influence outcomes in this growing patient population. Higher HHP, or greater percentage of time spent each day using bilateral input, was associated with better outcomes in the CI-alone and in the combined condition. Younger children and those within the first months of use had higher HHP. Clinicians should discuss these factors and how they may influence CI outcomes with potential candidates with SSD and their families. Ongoing work is investigating the long-term outcomes in this patient population, including whether increasing HHP after a period of limited CI use results in improved outcomes.
When proprioceptive feedback enhances visual perception of self-body movement: rehabilitation perspectives
Authors: Schlienger Raphaëlle , De Giovanni Claire , Guerraz Michel , Kavounoudias Anne 
Published: May 2023

IntroductionRehabilitation approaches take advantage of vision’s important role in kinesthesia, using the mirror paradigm as a means to reduce phantom limb pain or to promote recovery from hemiparesis. Notably, it is currently applied to provide a visual reafferentation of the missing limb to relieve amputees’ pain. However, the efficiency of this method is still debated, possibly due to the absence of concomitant coherent proprioceptive feedback. We know that combining congruent visuo-proprioceptive signals at the hand level enhances movement perception in healthy people. However, much less is known about lower limbs, for which actions are far less visually controlled in everyday life than upper limbs. Therefore, the present study aimed to explore, with the mirror paradigm, the benefit of combined visuo-proprioceptive feedback from the lower limbs of healthy participants.MethodsWe compared the movement illusions driven by visual or proprioceptive afferents and tested the extent to which adding proprioceptive input to the visual reflection of the leg improved the resulting movement illusion. To this end, 23 healthy adults were exposed to mirror or proprioceptive stimulation and concomitant visuo-proprioceptive stimulation. In the visual conditions, participants were asked to voluntarily move their left leg in extension and look at its reflection in the mirror. In the proprioceptive conditions, a mechanical vibration was applied to the hamstring muscle of the leg hidden behind the mirror to simulate an extension of the leg, either exclusively or concomitantly, to the visual reflection of the leg in the mirror.Results(i) Visual stimulation evoked leg movement illusions but with a lower velocity than the actual movement reflection on the mirror; (ii) proprioceptive stimulation alone provided more salient illusions than the mirror illusion; and (iii) adding a congruent proprioceptive stimulation improved the saliency, amplitude, and velocity of the illusion.ConclusionThe present findings confirm that visuo-proprioceptive integration occurs efficiently when the mirror paradigm is coupled with mechanical vibration at the lower limbs, thus providing promising new perspectives for rehabilitation.
AI-driven and automated MRI sequence optimization in scanner-independent MRI sequences formulated by a domain-specific language
Authors: Hoinkiss Daniel Christopher , Huber Jörn , Plump Christina , Lüth Christoph , Drechsler Rolf , Günther Matthias 
Published: May 2023

IntroductionThe complexity of Magnetic Resonance Imaging (MRI) sequences requires expert knowledge about the underlying contrast mechanisms to select from the wide range of available applications and protocols. Automation of this process using machine learning (ML) can support the radiologists and MR technicians by complementing their experience and finding the optimal MRI sequence and protocol for certain applications.MethodsWe define domain-specific languages (DSL) both for describing MRI sequences and for formulating clinical demands for sequence optimization. By using various abstraction levels, we allow different key users exact definitions of MRI sequences and make them more accessible to ML. We use a vendor-independent MRI framework (gammaSTAR) to build sequences that are formulated by the DSL and export them using the generic file format introduced by the Pulseq framework, making it possible to simulate phantom data using the open-source MR simulation framework JEMRIS to build a training database that relates input MRI sequences to output sets of metrics. Utilizing ML techniques, we learn this correspondence to allow efficient optimization of MRI sequences meeting the clinical demands formulated as a starting point.ResultsML methods are capable of capturing the relation of input and simulated output parameters. Evolutionary algorithms show promising results in finding optimal MRI sequences with regards to the training data. Simulated and acquired MRI data show high correspondence to the initial set of requirements.DiscussionThis work has the potential to offer optimal solutions for different clinical scenarios, potentially reducing exam times by preventing suboptimal MRI protocol settings. Future work needs to cover additional DSL layers of higher flexibility as well as an optimization of the underlying MRI simulation process together with an extension of the optimization method.
Decreased gray matter volume in the right middle temporal gyrus associated with cognitive dysfunction in preeclampsia superimposed on chronic hypertension
Authors: Sui Chaofan , Wen Hongwei , Han Jingchao , Chen Tao , Gao Yian , Wang Yuanyuan , Yang Linfeng , Guo Lingfei 
Published: May 2023

IntroductionThe effects of preeclampsia superimposed on chronic hypertension (CHTN-PE) on the structure and function of the human brain are mostly unknown. The purpose of this study was to examine altered gray matter volume (GMV) and its correlation with cognitive function in pregnant healthy women, healthy non-pregnant individuals, and CHTN-PE patients.MethodsTwenty-five CHTN-PE patients, thirty-five pregnant healthy controls (PHC) and thirty-five non-pregnant healthy controls (NPHC) were included in this study and underwent cognitive assessment testing. A voxel-based morphometry (VBM) approach was applied to investigate variations in brain GMV among the three groups. Pearson’s correlations between mean GMV and the Stroop color-word test (SCWT) scores were calculated.ResultsCompared with the NPHC group, the PHC and CHTN-PE groups showed significantly decreased GMV in a cluster of the right middle temporal gyrus (MTG), and the GMV decrease was more significant in the CHTN-PE group. There were significant differences in the Montreal Cognitive Assessment (MoCA) and Stroop word scores among the three groups. Notably, the mean GMV values in the right MTG cluster were not only significantly negatively correlated with Stroop word and Stroop color scores but also significantly distinguished CHTN-PE patients from the NPHC and PHC groups in receiver operating characteristic curve analysis.DiscussionPregnancy may cause a decrease in local GMV in the right MTG, and the GMV decrease is more significant in CHTN-PE patients. The right MTG affects multiple cognitive functions, and combined with the SCWT scores, it may explain the decline in speech motor function and cognitive flexibility in CHTN-PE patients.