rudyvdbrink/CitationDatabase huggingface dataset:
Association Between Body Mass Index and Disease Severity in Chinese Spinocerebellar Ataxia Type 3 Patients.
Cerebellum (London, England), 2018

Spinocerebellar ataxia type 3 (SCA3), the most common subtype of SCA worldwide, is caused by mutation of CAG repeats expansion in ATXN3. Body mass index (BMI) is an important modulatory factor in the progression of neurodegenerative disorders such as Huntington disease and amyotrophic lateral sclerosis. However, its relevance in SCA3 is not well understood. In this study, BMI was investigated in 134 molecularly confirmed SCA3 patients and 136 healthy controls from China. The multivariable linear regression models were performed to establish the putative risk factors for BMI, and whether BMI could affect the severity of ataxia. We found that BMI was significantly lower in the case group than that in the control group. The age at onset (positive correlation) and severity of ataxia (negative correlation) were the risk factors affecting BMI. Conversely, BMI along with the disease duration, the age at onset, and the numbers of CAG repeats could also have influence on the severity of ataxia. In conclusion, SCA3 patients had lower BMI than matched controls and BMI is a predictor of disease progression in SCA3. Nutritional intervention to promote weight gain could be a promising strategy to impede SCA3 progression.
The persistent effect of acute psychosocial stress on heart rate variability.
The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology, 2019

As stress occurs repetitively every day, the biological modifiers should also have enough time to restore the normal state of hemostasis; otherwise, chronic stress would be anticipated. The aim of the present study was to examine the persistence of stress based on subjective emotion, salivary cortisol, and linear and non-linear features of heart rate variability (HRV) in both genders.
Neural substrates of implicit and explicit emotional processes: a unifying framework for psychosomatic medicine.
Psychosomatic medicine, 2008

There are two broad themes in psychosomatic medicine research that relate emotions to physical disease outcomes. Theme 1 holds that self-reported negative affect has deleterious effects and self-reported positive affect has salubrious effects on health. Theme 2 holds that interference with the experience or expression of negative affect has adverse health consequences. From the perspective of self-report these two traditions appear contradictory. A key thesis of this paper is that the foundational distinction in cognitive neuroscience between explicit (conscious) and implicit (unconscious) processes, corresponding to Themes 1 and 2, respectively, provides a unifying framework that makes empirical research on unconscious emotional processes more tractable. A psychological model called "levels of emotional awareness" is presented first that places implicit and explicit emotional processes on a cognitive-developmental continuum. This model holds that the ability to become consciously aware of one's own feelings is a cognitive skill that goes through a developmental process similar to that which Piaget described for other cognitive functions. Empirical findings using the Levels of Emotional Awareness Scale are presented. A parallel hierarchical model of the neural substrates of emotional awareness is presented next supported by recent neuroimaging and lesion work. The evidence presented in this review suggests that the neural substrates of implicit and explicit emotional processes are distinct, that the latter have a modulatory effect on the former, and that at the neural level Theme 1 and Theme 2 phenomena share critical similarities. The implications of this psychobiological model for research in psychosomatic medicine are discussed.
The metabolic enzyme pyruvate kinase M2 regulates platelet function and arterial thrombosis.
Blood, 2021

Very little is known about the role of metabolic regulatory mechanisms in platelet activation and thrombosis. Dimeric pyruvate kinase M2 (PKM2) is a crucial regulator of aerobic glycolysis that facilitates the production of lactate and metabolic reprogramming. Herein, we report that limiting PKM2 dimer formation, using the small molecule inhibitor ML265, negatively regulates lactate production and glucose uptake in human and murine stimulated platelets. Furthermore, limiting PKM2 dimer formation reduced agonist-induced platelet activation, aggregation, clot retraction, and thrombus formation under arterial shear stress in vitro in both human and murine platelets. Mechanistically, limiting PKM2 dimerization downregulated phosphatidylinositol 3-kinase (PI3K)-mediated protein kinase B or serine/threonine-specific protein kinase (Akt)/glycogen synthase kinase 3 (GSK3) signaling in human and murine platelets. To provide further evidence for the role of PKM2 in platelet function, we generated a megakaryocyte or platelet-specific PKM2-/- mutant strain (PKM2fl/flPF4Cre+). Platelet-specific PKM2-deficient mice exhibited impaired agonist-induced platelet activation, aggregation, clot retraction, and PI3K-mediated Akt/GSK3 signaling and were less susceptible to arterial thrombosis in FeCl3 injury-induced carotid- and laser injury-induced mesenteric artery thrombosis models, without altering hemostasis. Wild-type mice treated with ML265 were less susceptible to arterial thrombosis with unaltered tail bleeding times. These findings reveal a major role for PKM2 in coordinating multiple aspects of platelet function, from metabolism to cellular signaling to thrombosis, and implicate PKM2 as a potential target for antithrombotic therapeutic intervention.
The recency ratio is related to CSF amyloid beta 1-42 levels in MCI-AD.
International journal of geriatric psychiatry, 2019

As anti-amyloid therapeutic interventions shift from enrolling patients with Alzheimer's disease (AD) dementia to individuals with pre-clinical disease, the need for sensitive measures that allow for non-invasive, fast, disseminable, and cost-effective identification of preclinical status increases in importance. The recency ratio (Rr) is a memory measure that relies on analysis of serial position performance, which has been found to predict cognitive decline and conversion to early mild cognitive impairment (MCI). The aim of this study was to test Rr's sensitivity to cerebrospinal fluid (CSF) levels of the core AD biomarkers in individuals with MCI-AD and controls.
IL-6R expressed on CNS vascular endothelial cells contributes to the development of experimental autoimmune encephalomyelitis in mice.
Journal of neuroimmunology, 2020

Experimental autoimmune encephalomyelitis (EAE) is the most common model for studying the molecular mechanisms of multiple sclerosis (MS). Here, we examined the CNS-restricted effects of classical interleukin (IL)-6 signaling on the development of EAE, using mice with cell-type specific deletion of the IL-6 receptor (IL-6R). We found that IL-6R deletion in CNS vascular endothelial cells, but not in microglia, ameliorated symptoms of EAE. The milder clinical symptoms in the gene-deleted mice were associated with less demyelination and immune cell infiltration/activation, and lower mRNA levels of the cytokines IL-17 and IL-1β, as well as the cell adhesion molecules VCAM-1, ICAM-1 and ICAM-2 than what was seen in WT mice. These findings demonstrate that classical IL-6 signaling via endothelial cells of the CNS contributes substantially to the development of MS-like pathology, which should be taken into consideration when conceptualizing future therapeutic approaches.
Sleep spindles in adolescence: a comparison across sleep restriction and sleep extension.
Sleep medicine, 2018

The tendency for adolescents to have restricted sleep has been examined in numerous studies; however, the impact of sleep restriction on adolescents' neural activity during sleep (measured by electroencephalography (EEG)) is less extensively researched, particularly regarding sleep spindles.
Nuclear nonmetastatic protein 23-H1 expression and epithelial-mesenchymal transition in laryngeal carcinoma: A pilot investigation.
Head & neck, 2018

In epithelial-to-mesenchymal transition, epithelial cells lose their features, acquiring a mesenchymal-like phenotype. Nm23-H1 protein relates to tumor cells' metastatic potential, its low expression in carcinomas often meaning a poor prognosis. This study newly investigated the role of nuclear nm23-H1 in laryngeal squamous cell carcinoma epithelial-to-mesenchymal transition.
β-Catenin is required for hair-cell differentiation in the cochlea.
The Journal of neuroscience : the official journal of the Society for Neuroscience, 2014

The development of hair cells in the auditory system can be separated into steps; first, the establishment of progenitors for the sensory epithelium, and second, the differentiation of hair cells. Although the differentiation of hair cells is known to require the expression of basic helix-loop-helix transcription factor, Atoh1, the control of cell proliferation in the region of the developing cochlea that will ultimately become the sensory epithelium and the cues that initiate Atoh1 expression remain obscure. We assessed the role of Wnt/β-catenin in both steps in gain- and loss-of-function models in mice. The canonical Wnt pathway mediator, β-catenin, controls the expression of Atoh1. Knock-out of β-catenin inhibited hair-cell, as well as pillar-cell, differentiation from sensory progenitors but was not required to maintain a hair-cell fate once specified. Constitutive activation of β-catenin expanded sensory progenitors by inducing additional cell division and resulted in the differentiation of extra hair cells. Our data demonstrate that β-catenin plays a role in cell division and differentiation in the cochlear sensory epithelium.
Evaluation of spiral acquisition variants for functional imaging of human superior colliculus at 3T field strength.
Magnetic resonance in medicine, 2018

High-resolution functional magnetic resonance imaging of human subcortical brain structures is challenging because of their deep location in the cranium, and their comparatively weak blood oxygen level dependent responses to strong stimuli. Magnetic resonance imaging data for subcortical brain regions exhibit both low signal-to-noise ratio and low functional contrast-to-noise ratio. To overcome these challenges, this work evaluates the use of dual-echo spiral variants that combine outward and inward trajectories. Specifically, in-in, in-out, and out-out combinations are evaluated. For completeness, single-echo spiral-in and parallel-receive-accelerated echo-planar-imaging sequences are also evaluated.
Developmental social communication deficits in the Shank3 rat model of phelan-mcdermid syndrome and autism spectrum disorder.
Autism research : official journal of the International Society for Autism Research, 2018

Mutations in the SHANK3 gene have been discovered in autism spectrum disorder (ASD), and the intellectual disability, Phelan-McDermid Syndrome. This study leveraged a new rat model of Shank3 deficiency to assess complex behavioral phenomena, unique to rats, which display a richer social behavior repertoire than mice. Uniquely detectable emissions of ultrasonic vocalizations (USV) in rats serve as situation-dependent affective signals and accomplish important communicative functions. We report, for the first time, a call and response acoustic playback assay of bidirectional social communication in juvenile Shank3 rats. Interestingly, we found that Shank3-deficient null males did not demonstrate the enhanced social approach behavior typically exhibited following playback of pro-social USV. Concomitantly, we discovered that emission of USV in response to playback was not genotype-dependent and emitted response calls were divergent in meaning. This is the first report of these socially relevant responses using a genetic model of ASD. A comprehensive and empirical analysis of vigorous play during juvenile reciprocal social interactions further revealed fewer bouts and reduced durations of time spent playing by multiple key parameters, including reduced anogenital sniffing and allogrooming. We further discovered that male null Shank3-deficient pups emitted fewer isolation-induced USV than Shank3 wildtype controls. Postnatal whole brain anatomical phenotyping was applied to visualize anatomical substrates that underlie developmental phenotypes. The data presented here lend support for the important role of Shank3 in social communication, the core symptom domain of ASD. By increasing the number of in vivo functional outcome measures, we improved the likelihood for identifying and moving forward with medical interventions. Autism Res 2018, 11: 587-601. © 2018 International Society for Autism Research, Wiley Periodicals, Inc.
Neural correlates of progressive reduction of bradykinesia in de novo Parkinson's disease.
Parkinsonism & related disorders, 2014

A progressive reduction in the speed and amplitude of repetitive action is an essential component of bradykinesia, which is called sequence effect (SE). Because SE is specific to Parkinson's disease (PD) and is suggested to be associated with motor arrest, its features are of great interest. The aim of this study was, for the first time, to find the neural correlates of SE and to demonstrate whether dopaminergic deficit is correlated with SE.
Suppressing Unwanted Autobiographical Memories Reduces Their Automatic Influences: Evidence From Electrophysiology and an Implicit Autobiographical Memory Test.
Psychological science, 2015

The present study investigated the extent to which people can suppress unwanted autobiographical memories in a memory-detection context involving a mock crime. Participants encoded sensorimotor-rich memories by enacting a lab-based crime (stealing a ring) and received instructions to suppress memory of the crime in order to evade guilt detection in a brain-wave-based concealed-information test. Aftereffects of suppression on automatic memory processes were measured in an autobiographical Implicit Association Test. Results showed that suppression attenuated brain-wave activity (the P300) associated with crime-relevant memory retrieval, which rendered waveforms from innocent and guilty participants indistinguishable. However, the two groups could nevertheless be discriminated via the late-posterior-negative slow wave, which may reflect the need to monitor response conflict arising between voluntary suppression and automatic recognition processes. Finally, extending recent findings that suppression can impair implicit memory processes, we provide novel evidence that suppression reduces automatic cognitive biases often associated with actual autobiographical memories.
Bisphenol A Exposure in Children With Autism Spectrum Disorders.
Autism research : official journal of the International Society for Autism Research, 2015

The etiology of autism spectrum disorders (ASD) is believed to involve genetic and environmental components. This study focused on the plasticizer, Bisphenol-A (BPA). The major pathway for BPA metabolism and excretion is via glucuronidation. To determine whether there was a relationship between BPA exposure and ASD, urine specimens were collected from 46 children with ASD and 52 controls. Free and total BPA concentrations were determined by mass spectrometry. The fraction glucuronidated was calculated from the difference. A metabolomics study was done to investigate metabolite distribution in the urine. (i) Most of the BPA excreted in the urine was as the glucuronide; (ii) about 20% of the ASD children had BPA levels beyond the 90th percentile (>50 ng/mL) of the frequency distribution for the total sample of 98 children; (iii) Mann-Whitney U tests and multiple regression analyses found significant differences (P < 0.05) between the groups in total and % bound BPA; and (iv) the metabolomics analyses showed the number of absolute partial correlations >|0.30| between metabolite concentrations and total BPA was ∼3 times greater with the ASD group than the controls (P < 0.001), and the number of absolute partial correlations > |0.30| for % bound BPA was ∼15 times higher with ASD (P < 0.001). The results suggest there is an association between BPA and ASD.
Restrictive eating disorders in children and adolescents: a comparison between clinical and psychopathological profiles.
Eating and weight disorders : EWD, 2021

DSM-5 describe three forms of restrictive and selective eating: Anorexia Nervosa-Restrictive (AN-R), Anorexia Nervosa-Atypical (AN-A), and Avoidant/Restrictive Food Intake Disorder (ARFID). While AN is widely studied, the psychopathological differences among these three diseases are not clear. The aim of this study was to (i) compare the clinical features of AN-R, AN-A, and ARFID, in a clinical sample recruited from a specialized EDs program within a tertiary care children's Hospital; (ii) identifying three specific symptom profiles, to better understand if restrictive ED share a common psychopathological basis.
Gene expression profiling of brains from bovine spongiform encephalopathy (BSE)-infected cynomolgus macaques.
BMC genomics, 2014

Prion diseases are fatal neurodegenerative disorders whose pathogenesis mechanisms are not fully understood. In this context, the analysis of gene expression alterations occurring in prion-infected animals represents a powerful tool that may contribute to unravel the molecular basis of prion diseases and therefore discover novel potential targets for diagnosis and therapeutics. Here we present the first large-scale transcriptional profiling of brains from BSE-infected cynomolgus macaques, which are an excellent model for human prion disorders.
New tricks by an old dogma: mechanisms of the Organizational/Activational Hypothesis of steroid-mediated sexual differentiation of brain and behavior.
Hormones and behavior, 2009

The hormonal regulation of sexual behavior has been the topic of study for over 50 years and yet controversies persist regarding the importance of early versus late events and the identity of the critical neural and cellular substrates. We have taken a mechanistic approach toward the masculinizing actions of the gonadal steroid estradiol, as a means to understand how organization of the neuroarchitechture during a perinatal sensitive period exerts enduring influences on adult behavior. We have identified important roles for prostaglandins, FAK and paxillin, PI3 kinase and glutamate, and determined that cell-to-cell signaling is a critical component of the early organizational events. We have further determined that the mechanisms mediating different components of sexual behavior are distinct and regionally specific. The multitude of mechanisms by which the steroid estradiol, exerts divergent effects on the developing nervous system provides for a multitude of phenotypes which can vary significantly both within and between the sexes.
The rs1550117 A>G variant in DNMT3A gene promoter significantly increases non-small cell lung cancer susceptibility in a Han Chinese population.
Oncotarget, 2017

In this study, we conducted a case-control study to explore the association between rs1550117 A>G variant of DNMT3A gene promoter and non-small cell lung cancer (NSCLC) susceptibility in a Han Chinese population. The genotyping of rs1550117 A>G variant was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and confirmed by sequencing. Allele G of rs1550117 was associated with an increased risk of NSCLC. Moreover, individuals carrying the GG genotypes had a higher risk to develop NSCLC than the AA and GA genotype carriers. Further stratified analysis showed that rs1550117 A>G was significantly related to age (> 60 years), male, smoking and drinking. In vivo detection of DNMT3A mRNA levels in NSCLC tissues and in vitro luciferase assays consistently showed that the allele G significantly decreased DNMT3A transcription. Additional functional analysis revealed that the increased binding affinity of transcription repressor SP1, which was associated with allele G of rs1550117, led to the significant decreased expression of DNMT3A. Collectively, our results propose a suppression role of DNMT3A in NSCLC development and emphasize the dual roles of DNMT3A in tumorigenesis.
Behavioral choice by presynaptic inhibition of tactile sensory terminals.
Nature neuroscience, 2009

When presented with multiple stimuli, animals generally choose to respond only to one input. The neuronal mechanisms determining such behavioral choices are poorly understood. We found that the medicinal leech had greatly diminished responses to moderate mechanosensory input as it fed. Feeding dominated other responses by suppressing transmitter release from mechanosensory neurons onto all of their neuronal targets. The effects of feeding on synaptic transmission could be mimicked by serotonin. Furthermore, the serotonin antagonist mianserin blocked feeding-induced decreases in synaptic transmission. These results indicate that feeding predominates behaviors by using serotonin at an early stage of sensory processing, namely on presynaptic terminals of mechanosensory neurons.
Incremental change in the set of coactive cortical assemblies enables mental continuity.
Physiology & behavior, 2016

This opinion article explores how sustained neural firing in association areas allows high-order mental representations to be coactivated over multiple perception-action cycles, permitting sequential mental states to share overlapping content and thus be recursively interrelated. The term "state-spanning coactivity" (SSC) is introduced to refer to neural nodes that remain coactive as a group over a given period of time. SSC ensures that contextual groupings of goal or motor-relevant representations will demonstrate continuous activity over a delay period. It also allows potentially related representations to accumulate and coactivate despite delays between their initial appearances. The nodes that demonstrate SSC are a subset of the active representations from the previous state, and can act as referents to which newly introduced representations of succeeding states relate. Coactive nodes pool their spreading activity, converging on and activating new nodes, adding these to the remaining nodes from the previous state. Thus, the overall distribution of coactive nodes in cortical networks evolves gradually during contextual updating. The term "incremental change in state-spanning coactivity" (icSSC) is introduced to refer to this gradual evolution. Because a number of associated representations can be sustained continuously, each brain state is embedded recursively in the previous state, amounting to an iterative process that can implement learned algorithms to progress toward a complex result. The longer representations are sustained, the more successive mental states can share related content, exhibit progressive qualities, implement complex algorithms, and carry thematic or narrative continuity. Included is a discussion of the implications that SSC and icSSC may have for understanding working memory, defining consciousness, and constructing AI architectures.
Identifying subgroups of refugees from Syria resettled in Sweden based on multiple trauma exposures: A latent class analysis of trauma history and mental health outcomes.
Journal of psychosomatic research, 2019

Many refugees have been subjected to pre-migratory trauma. Evidence is needed to address the heterogeneity within refugee populations in regard to patterns of multiple trauma exposures. This study identified subgroups within a refugee population displaying different profiles of multiple trauma exposures and assessed sociodemographic predictors and differences in mental health symptom severity across these classes.
Strategy for screening cognitive impairment in Chinese patients with amyotrophic lateral sclerosis.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia, 2020

It is an economical strategy to design a screening method to decide which patients with amyotrophic lateral sclerosis/ motor neuron disease (ALS/MND) should enter into the stage for further comprehensive neuropsychological investigation.