bluuebunny/crossref_metadata_2025_split huggingface dataset:
Diagnostic accuracy of diffusion-weighted imaging in variant Creutzfeldt–Jakob disease
Authors: Mackenzie G. , Summers D. , Mackenzie J. , Knight R. 
Published: October 2023

Abstract
Purpose
This study sought to investigate the diagnostic sensitivity of diffusion-weighted imaging (DWI) in variant Creutzfeldt-Jakob disease (vCJD), a prion disease with significant public health implications on account of its transmissibility. The importance of this research stemmed from the first neuropathologically confirmed vCJD case in a PRNP heterozygous individual in 2016, which displayed DWI features typical of sporadic CJD (sCJD). The case was classified as ‘probable’ sCJD in life, predominantly based on these imaging findings. While DWI has proven valuable in diagnosing sCJD, its utility in vCJD diagnosis remains unclear.

Methods
DWI and Fluid-attenuated inversion recovery (FLAIR) images from probable and definite vCJD cases referred to the National CJD Research and Surveillance Unit (NCJDRSU) were independently analysed by an expert neuroradiologist. Scans were reviewed within a mixed cohort of CJD cases including definite sCJD and non-CJD controls.

Results
FLAIR sequences demonstrated greater sensitivity in identifying the pulvinar sign in vCJD compared to DWI (73% vs 41%, p-value <0.001). Basal ganglia hyperintensities were more prevalent in DWI (84%) than FLAIR (64%), and cortical hyperintensities were exclusive to DWI (24%). The pulvinar sign showed a specificity of 98% for vCJD and was rare in sCJD.

Conclusion
DWI showed reduced sensitivity compared to FLAIR imaging in detecting the pulvinar sign in vCJD. Conversely, DWI can more distinctively identify basal ganglia and cortical hyperintensities, thus leading to imaging patterns more characteristic of sCJD. Therefore, DWI should be cautiously interpreted in vCJD diagnosis, with axial FLAIR potentially providing a more precise evaluation of the pulvinar sign.
PD-1 and PD-L1 inhibitors in cold colorectal cancer: challenges and strategies
Authors: Lin Ke Xin , Istl Alexandra C. , Quan Douglas , Skaro Anton , Tang Ephraim , Zheng Xiufen 
Published: October 2023

AbstractColorectal cancer (CRC) is the second most common cause of cancer mortality, with mismatch repair proficient (pMMR) and/or microsatellite stable (MSS) CRC making up more than 80% of metastatic CRC. Programmed death-ligand 1 (PD-L1) and programmed death 1 (PD-1) immune checkpoint inhibitors (ICIs) are approved as monotherapy in many cancers including a subset of advanced or metastatic colorectal cancer (CRC) with deficiency in mismatch repair (dMMR) and/or high microsatellite instability (MSI-H). However, proficient mismatch repair and microsatellite stable (pMMR/MSS) cold CRCs have not shown clinical response to ICIs alone. To potentiate the anti-tumor response of PD-L1/PD-1 inhibitors in patients with MSS cold cancer, combination strategies currently being investigated include dual ICI, and PD-L1/PD-1 inhibitors in combination with chemotherapy, radiotherapy, vascular endothelial growth factor (VEGF) /VEGF receptor (VEGFR) inhibitors, mitogen-activated protein kinase (MEK) inhibitors, and signal transducer and activation of transcription 3 (STAT3) inhibitors. This paper will review the mechanisms of PD-1/PD-L1 ICI resistance in pMMR/MSS CRC and potential combination strategies to overcome this resistance, summarize the published clinical experience with different combination therapies, and make recommendations for future avenues of research.
Neonatal hearing screening - does failure in TEOAE screening matter when the AABR test is passed?
Authors: Gellrich Donata , Gröger Moritz , Echternach Matthias , Eder Katharina , Huber Patrick 
Published: October 2023

Abstract
Purpose
Newborns who fail the transient evoked otoacoustic emissions (TEOAE) but pass the automatic auditory brainstem response (AABR) in universal newborn hearing screening (UNHS), frequently have no further diagnostic test or follow-up. The present study aimed to investigate whether hearing loss might be missed by ignoring neonatal TEOAE failure in the presence of normal AABR.

Methods
A retrospective analysis was conducted in newborns presenting between 2017 and 2021 to a tertiary referral centre due to failure in the initial UNHS. The main focus was on infants who failed TEOAE tests, but passed AABR screening. The clinical characteristics and audiometric outcomes were analysed and compared with those of other neonates.

Results
Among 1,095 referred newborns, 253 (23%) failed TEOAE despite passing AABR screening. Of the 253 affected infants, 154 returned for follow-up. At 1-year follow-up, 46 (28%) achieved normal audiometric results. 32 (21%) infants had permanent hearing loss (HL) confirmed by diagnostic ABR, 58 (38%) infants had HL solely due to middle ear effusion (MEE), and for 18 (12%) infants HL was suspected without further differentiation. The majority of permanent HL was mild (78% mild vs. 13% moderate vs. 9% profound). The rate of spontaneous MEE clearance was rather low (29%) leading to early surgical intervention in 36 children. The profile of the risk factors for hearing impairment was similar to that of newborns with failure in both, TEOAE and AABR; however, there was a stronger association between the presence of risk factors and the incidence of HL (relative risk 1.55 vs. 1.06; odds ratio 3.61 vs. 1.80).

Conclusion
In newborns, the discordance between a “refer” in TEOAE and a “pass” in AABR screening is associated with a substantial prevalence of hearing impairment at follow-up, especially in the presence of risk factors.
Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey
Authors: Mancuso Michelangelo , Lopriore Piervito , Lamperti Costanza , Klopstock Thomas , Rahman Shamima , Licchetta Laura , Kornblum Cornelia , Wortmann Saskia B. , Dollfus Hélène , Papadopoulou Maria T. , Arzimanoglou Alexis , Scarpa Maurizio , Graessner Holm , Evangelista Teresinha 
Published: October 2023

Abstract
Background and purpose
Primary mitochondrial diseases (PMDs) are rare diseases for which diagnosis is challenging, and management and training programs are not well defined in Europe. To capture and assess care needs, five different European Reference Networks have conducted an exploratory survey.

Methods
The survey covering multiple topics relating to PMDs was sent to all ERNs healthcare providers (HCPs) in Europe.

Results
We have collected answers from 220 members based in 24/27 European member states and seven non-European member states. Even though most of the responders are aware of neurogenetic diseases, difficulties arise in the ability to deliver comprehensive genetic testing. While single gene analysis is widely available in Europe, whole exome and genome sequencing are not easily accessible, with considerable variation between countries and average waiting time for results frequently above 6 months. Only 12.7% of responders were happy with the ICD-10 codes for classifying patients with PMDs discharged from the hospital, and more than 70% of them consider that PMDs deserve specific ICD codes to improve clinical management, including tailored healthcare, and for reimbursement reasons. Finally, 90% of responders declared that there is a need for further education and training in these diseases.

Conclusions
This survey provides information on the current difficulties in the care of PMDs in Europe. We believe that the results of this survey are important to help rare disease stakeholders in European countries identify key care and research priorities.
Practice reduces the costs of producing head fakes in basketball
Authors: Böer Nils Tobias , Weigelt Matthias , Schütz Christoph , Güldenpenning Iris 
Published: October 2023

AbstractPrevious research indicates that performing passes with a head fake in basketball leads to increased response initiation times and errors as compared to performing a pass without a head fake. These so-called fake production costs only occurred when not given the time to mentally prepare the deceptive movement. In the current study, we investigated if extensive practice could reduce the cognitive costs of producing a pass with head fake. Twenty-four basketball novices participated in an experiment on five consecutive days. A visual cue prompted participants to play a pass with or without a head fake either to the left or right side. The cued action had to be executed after an interstimulus interval (ISI) of either 0 ms, 400 ms, 800 ms or 1200 ms, allowing for different movement preparation times. Results indicated higher response initiation times (ITs) and error rates (ERs) for passes with head fakes for the short preparation intervals (ISI 0 ms and 400 ms) on the first day but no difference for the longer preparation intervals (ISI 800 ms and 1200 ms). After only one day of practice, participants showed reduced fake production costs (for ISI 0 ms) and were even able to eliminate these cognitive costs when given time to mentally prepare the movement (for ISI 400 ms). Accordingly, physical practice can reduce the cognitive costs associated with head-fake generation. This finding is discussed against the background of the strengthening of stimulus response associations.
Adult neurogenesis and “immature” neurons in mammals: an evolutionary trade-off in plasticity?
Authors: Bonfanti Luca , La Rosa Chiara , Ghibaudi Marco , Sherwood Chet C. 
Published: October 2023

AbstractNeuronal plasticity can vary remarkably in its form and degree across animal species. Adult neurogenesis, namely the capacity to produce new neurons from neural stem cells through adulthood, appears widespread in non-mammalian vertebrates, whereas it is reduced in mammals. A growing body of comparative studies also report variation in the occurrence and activity of neural stem cell niches between mammals, with a general trend of reduction from small-brained to large-brained species. Conversely, recent studies have shown that large-brained mammals host large amounts of neurons expressing typical markers of neurogenesis in the absence of cell division. In layer II of the cerebral cortex, populations of prenatally generated, non-dividing neurons continue to express molecules indicative of immaturity throughout life (cortical immature neurons; cINs). After remaining in a dormant state for a very long time, these cINs retain the potential of differentiating into mature neurons that integrate within the preexisting neural circuits. They are restricted to the paleocortex in small-brained rodents, while extending into the widely expanded neocortex of highly gyrencephalic, large-brained species. The current hypothesis is that these populations of non-newly generated “immature” neurons might represent a reservoir of developmentally plastic cells for mammalian species that are characterized by reduced stem cell-driven adult neurogenesis. This indicates that there may be a trade-off between various forms of plasticity that coexist during brain evolution. This balance may be necessary to maintain a “reservoir of plasticity” in brain regions that have distinct roles in species-specific socioecological adaptations, such as the neocortex and olfactory structures.
Energy-based features and bi-LSTM neural network for EEG-based music and voice classification
Authors: Ariza Isaac , Barbancho Ana M. , Tardón Lorenzo J. , Barbancho Isabel 
Published: October 2023

AbstractThe human brain receives stimuli in multiple ways; among them, audio constitutes an important source of relevant stimuli for the brain regarding communication, amusement, warning, etc. In this context, the aim of this manuscript is to advance in the classification of brain responses to music of diverse genres and to sounds of different nature: speech and music. For this purpose, two different experiments have been designed to acquire EEG signals from subjects listening to songs of different musical genres and sentences in various languages. With this, a novel scheme is proposed to characterize brain signals for their classification; this scheme is based on the construction of a feature matrix built on relations between energy measured at the different EEG channels and the usage of a bi-LSTM neural network. With the data obtained, evaluations regarding EEG-based classification between speech and music, different musical genres, and whether the subject likes the song listened to or not are carried out. The experiments unveil satisfactory performance to the proposed scheme. The results obtained for binary audio type classification attain 98.66% of success. In multi-class classification between 4 musical genres, the accuracy attained is 61.59%, and results for binary classification of musical taste rise to 96.96%.
Oscillation criterion for linear equations with coefficients containing powers of natural logarithm
Authors: Hasil Petr , Pospíšil Michal , Šišoláková Jiřina , Veselý Michal 
Published: October 2023

AbstractApplying an averaging technique for the adapted Prüfer angle, we obtain an oscillation criterion for linear second order differential equations whose coefficients consist of products of powers of natural logarithm and general (bounded or unbounded) continuous functions. The presented criterion is illustrated by new corollaries and examples. The novelty is caused by the used averaging technique over unbounded intervals.
Cross species review of the physiological role of d-serine in translationally relevant behaviors
Authors: Arizanovska Dena , Emodogo Jada A. , Lally Anna P. , Palavicino-Maggio Caroline B. , Liebl Daniel J. , Folorunso Oluwarotimi O. 
Published: October 2023

AbstractBridging the gap between preclinical models of neurological and psychiatric disorders with their human manifestations is necessary to understand their underlying mechanisms, identify biomarkers, and develop novel therapeutics. Cognitive and social impairments underlie multiple neuropsychiatric and neurological disorders and are often comorbid with sleep disturbances, which can exacerbate poor outcomes. Importantly, many symptoms are conserved between vertebrates and invertebrates, although they may have subtle differences. Therefore, it is essential to determine the molecular mechanisms underlying these behaviors across different species and their translatability to humans. Genome-wide association studies have indicated an association between glutamatergic gene variants and both the risk and frequency of psychiatric disorders such as schizophrenia, bipolar disorder, and autism spectrum disorder. For example, changes in glutamatergic neurotransmission, such as glutamate receptor subtype N-methyl-d-aspartate receptor (NMDAR) hypofunction, have been shown to contribute to the pathophysiology of schizophrenia. Furthermore, in neurological disorders, such as traumatic brain injury and Alzheimer’s disease, hyperactivation of NMDARs leads to synaptic damage. In addition to glutamate binding, NMDARs require the binding of a co-agonist d-serine or glycine to the GluN1 subunit to open. d-serine, which is racemized from l-serine by the neuronal enzyme serine racemase (SRR), and both SRR and d-serine are enriched in cortico-limbic brain regions. d-serine is critical for complex behaviors, such as cognition and social behavior, where dysregulation of its synthesis and release has been implicated in many pathological conditions. In this review, we explore the role of d-serine in behaviors that are translationally relevant to multiple psychiatric and neurological disorders in different models across species.
Hydrogels and their composites based on sulfo-containing acrylates: preparation, properties, and proton conductivity
Authors: Rymsha Kh. V.  , Yevchuk I. Yu.  , Zhyhailo M. M.  , Demchyna O. I.  , Maksymych V. M.  , Ivashchyshyn F. O.  
Published: October 2023

AbstractThis work presents a method for the synthesis of multifunctional hydrogels based on polymer framework obtained by UV-initiated polymerization of the acrylic monomers (acrylamide, acrylonitrile, and sulfo-group-containing monomer (3-sulfopropyl acrylate potassium salt, 2-acrylamido-2-methylpropane sulfonic acid, and sodium styrene sulfonate)) in the presence of N,N′-methylenebisacrylamide as a cross-linking agent. Composite polymer/silica nanogels have been created in situ using a TEOS-based sol–gel system and the above-mentioned polymeric matrices. The synthesized material characteristics such as composition, morphology, and thermal stability were explored with FTIR, SEM, and DCS. In addition, the effect of temperature, inorganic component content, sulfo-group-containing monomer to proton conductivity and water uptake have been explored. The obtained hydrogels possess proton conductivity up to 19 mSm/cm with potential implying for application in electrochemical devices and superabsorbent material. This method is user-friendly and cost-efficient, and proceeds in an aqueous environment under atmospheric conditions without the use of heavy metal catalysts.
A Systematic Review and Meta-Analysis of Longitudinal Studies on Posttraumatic Stress Disorders in Refugees and Asylum Seekers
Authors: Handiso Demelash , Belsti Yitayeh , Boyle Jacqueline A. , Paul Eldho , Shawyer Frances , Enticott Joanne C. 
Published: October 2023

AbstractPosttraumatic stress disorder (PTSD) is among the common mental disorders in refugees and asylum seekers; however, it is unclear if population prevalence declines or persists after resettlement. Therefore, this study aimed to identify longitudinal studies reporting PTSD among refugees and asylum seekers in upper-middle and high-income countries and to conduct a meta-analysis to map the trajectory of PTSD prevalence over time in order to inform policymakers. Seven electronic databases were searched for relevant prospective longitudinal studies. The Joanna Briggs Institute (JBI) scale was used to assess the quality of studies, and we excluded studies with a high risk of bias leaving 21 studies: 13 with moderate and 8 with a low risk of bias. The total follow-up period ranged from 1 to 7 years. Random effects meta-analysis pooling all studies suggested a baseline prevalence of 17.65% in the immediate period after resettlement (up to 1 year after arrival) and a trend for decreasing prevalence to 11.64% over time. However, studies with over 6 years of follow-up indicated a higher longitudinal prevalence of 13–17%, and in the low-risk-of-bias study subgroup, the prevalence did not decrease (ranging between 27.54 and 30.10%), which raises the possibility that PTSD prevalence may not substantially decrease in the first 6 years after resettlement. The finding that studies with a low risk of bias reported a larger prevalence of PTSD persisting over time highlights the importance of conducting high-quality longitudinal studies to inform policy. Appropriate long-term interventions are needed to decrease the impact of traumatic events on the mental health of refugees and asylum seekers.
Whole-exome sequencing reveals mutational profiles of anorectal and gynecological melanoma
Authors: Sun Wei , Liu Kunyan , Zhou Hongyu , Zhao Fang , Dong Yan , Xu Yu , Kong Yunyi , Wang Minghe , Cheng Xi , Chen Yong 
Published: October 2023

AbstractMucosal melanoma is a rare and highly malignant type of melanoma. Among the sites that mucosal melanoma arises, anorectal and gynecological melanoma has more aggressive behavior and worse prognosis. There was no effective therapy for mucosal melanoma at present. Only a small number of mucosal melanoma patients which harbor mutations in BRAF or KIT benefit from targeted therapy. So it’s an urgent need to identify more actionable mutations in mucosal melanoma. To identify more potential therapeutic targets in mucosal melanoma, 48 samples were collected from 44 patients with anorectal or gynecological melanoma and subjected to whole-exome sequencing. The tumor mutation burden was low with a median of 1.75 mutations per Mb. In chromosomal level, 1q, 6p and 8q of mucosal melanoma were significantly amplified while 9p, 10p, 10q, 16p and 16q were significantly deleted. Muc16 was the most frequently mutated oncogene in our samples(25%). The mutation frequency of KIT(20%) was comparable to the "triple-wild" genes-NRAS(20%), NF1(20%), and BRAF(11%). KMT2D mutation was found in 18.18% patients, which is previously unidentified. MAPK signaling pathway and lysine degradation were the most frequently mutated pathways. Moreover, patients with TP53 mutations tend to have worse clinical outcome (median survival time 19 vs. 50 months, log-rank P = 0.006). 2000 ore mutated genes involved in MAPK signaling pathway were identified, which expand the patients potentially benefit from ample MAPK inhibitors. KMT2D could be a potential therapeutic target. Moreover, TP53 could be a potential prognosis marker for mucosal melanoma.
Convolutional Neural Network for Fully Automated Cerebellar Volumetry in Children in Comparison to Manual Segmentation and Developmental Trajectory of Cerebellar Volumes
Authors: Sobootian Daria Juliane , Bronzlik Paul , Spineli Loukia M. , Becker Lena Sophie , Winther Hinrich Boy , Bueltmann Eva 
Published: October 2023

AbstractThe purpose of this study was to develop a fully automated and reliable volumetry of the cerebellum of children during infancy and childhood using deep learning algorithms in comparison to manual segmentation. In addition, the clinical usefulness of measuring the cerebellar volume is shown. One hundred patients (0 to 16.3 years old) without infratentorial signal abnormalities on conventional MRI were retrospectively selected from our pool of pediatric MRI examinations. Based on a routinely acquired 3D T1-weighted magnetization prepared rapid gradient echo (MPRAGE) sequence, the cerebella were manually segmented using ITK-SNAP. The data set of all 100 cases was divided into four splits (four-fold cross-validation) to train the network (NN) to delineate the boundaries of the cerebellum. First, the accuracy of the newly created neural network was compared with the manual segmentation. Secondly, age-related volume changes were investigated. Our trained NN achieved an excellent Spearman correlation coefficient of 0.99, a Dice Coefficient of 95.0 ± 2.1%, and an intersection over union (IoU) of 90.6 ± 3.8%. Cerebellar volume increased continuously with age, showing an exponentially rapid growth within the first year of life. Using a convolutional neural network, it was possible to achieve reliable, fully automated cerebellar volume measurements in childhood and infancy, even when based on a relatively small cohort. In this preliminary study, age-dependent cerebellar volume changes could be acquired.