rudyvdbrink/CitationDatabase huggingface dataset:
Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant.
Neuromuscular disorders : NMD, 2018

Chronic Progressive External Ophthalmoplegia (CPEO) is characterized by ptosis and ophthalmoplegia and is usually caused by mitochondrial DNA (mtDNA) deletions or mt-tRNA mutations. The aim of the present work was to clarify the genetic defect in a patient presenting with CPEO and elucidate the underlying pathogenic mechanism. This 62-year-old female first developed ptosis of the right eye at the age of 12 and subsequently the left eye at 45 years, and was found to have external ophthalmoplegia at the age of 55 years. Histopathological abnormalities were detected in the patient's muscle, including ragged-red fibres, a mosaic pattern of COX-deficient muscle fibres and combined deficiency of respiratory chain complexes I and IV. Genetic investigation revealed the "common deletion" in the patient's muscle and fibroblasts. Moreover, a novel, heteroplasmic mt-tRNA
More is not always better: adaptive gain control explains dissociation between perception and action.
Nature neuroscience, 2012

Moving objects generate motion information at different scales, which are processed in the visual system with a bank of spatiotemporal frequency channels. It is not known how the brain pools this information to reconstruct object speed and whether this pooling is generic or adaptive; that is, dependent on the behavioral task. We used rich textured motion stimuli of varying bandwidths to decipher how the human visual motion system computes object speed in different behavioral contexts. We found that, although a simple visuomotor behavior such as short-latency ocular following responses takes advantage of the full distribution of motion signals, perceptual speed discrimination is impaired for stimuli with large bandwidths. Such opposite dependencies can be explained by an adaptive gain control mechanism in which the divisive normalization pool is adjusted to meet the different constraints of perception and action.
Comparison of visual and auditory emotion recognition in patients with cerebellar and Parkinson´s disease.
Social neuroscience, 2019

Widespread cortical-subcortical networks are involved in the recognition and discrimination of emotional contents of facial and vocal expression, whereby the cerebellum and basal ganglia are two subcortical regions implicated in these networks with limited evidence to their specific contributions. To investigate this we compared patients with circumscribed cerebellar lesions and patients with Parkinson's disease (PD) on an approved test battery. We studied two groups with subcortical disease, focal cerebellar infarction (n = 22) and PD (n = 22), and a neurological control group with focal supratentorial ischemia (SI) (n = 16) were. Assessments were according to inpatient protocols for neuropsychological routine evaluation, including tests of memory, executive function and attention. Participants completed the Tuebingen Affect Battery, a recognized measure of recognition and discrimination of facial and vocal expression of emotion. As a result, cerebellar lesions were associated with greater impairment than PD and SI in recognition and discrimination of cues of both facial and vocal expressions of differing basic emotions. No confounding effect of other cognitive domains, particularly executive function and attention, was found. Taken together, our findings suggest a specific contribution of the cerebellum to cerebral networks that process facial and vocal emotion expression, related to rapid decisions regulating appropriate behavioral responses in social environments.
SIP30 is required for neuropathic pain-evoked aversion in rats.
The Journal of neuroscience : the official journal of the Society for Neuroscience, 2014

SIP30 (SNAP25 interacting protein of 30) is a SNAP25 interaction protein of 30 kDa that functions in neurotransmitter release. Using a chronic constriction injury (CCI) model of neuropathic pain, we profiled gene expression in the rat spinal cord and brain and identified sip30, which was upregulated after CCI. Here, we show that CCI induced a bilateral increase of SIP30 in the rostral anterior cingulate cortex (rACC), a key brain region that has been implicated in pain affect. We put rats in a chamber with one half painted white (light area) and the other half painted black (dark area), and measured neuropathic pain-evoked place escape/avoidance paradigm (PEAP) to quantify the level of negative emotion evoked by painful stimuli using a Von Frey hair. Inhibition of CCI-mediated induction of SIP30 by intra-rACC injection of shRNA targeting the rat sip30 gene reduced PEAP. Interestingly, knockdown of SIP30 did not affect CCI-induced evoked pain such as heat hyperalgesia and mechanical allodynia. Neither did it affect general learning and memory. CCI-induced upregulation of SIP30 was correlated with activation of ERK, PKA, and CREB in the rACC. Intra-rACC administration of PKA or ERK inhibitors suppressed CCI-induced SIP30 upregulation and blocked the induction of PEAP. Additionally, knockdown of SIP30 suppressed the frequency of mEPSCs and increased paired-pulse ratios in rACC slices and decreased extracellular glutamate concentrations. Together, our results highlight SIP30 as a target of PKA and ERK in the rACC to mediate neuropathic pain-evoked negative emotion via modulation of glutamate release and excitatory synaptic transmission.
Reduction of PTSD Symptoms With Pre-Reactivation Propranolol Therapy: A Randomized Controlled Trial.
The American journal of psychiatry, 2018

The authors assessed the efficacy of trauma memory reactivation performed under the influence of propranolol, a noradrenergic beta-receptor blocker, as a putative reconsolidation blocker, in reducing symptoms of posttraumatic stress disorder (PTSD).
Development of a new nano arginase HPLC capillary column for the fast screening of arginase inhibitors and evaluation of their binding affinity.
Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2021

A simple and rapid Nano LC method has been developed for the screening of arginase inhibitors. The method is based on the immobilization of biotinylated arginase on a neutravidin functionalized nano HPLC capillary column. The arginase immobilization step performed by frontal analysis is very fast and only takes a few minutes. The miniaturized capillary column of 170 nL (length 5 cm, internal diameter 75 μm) significantly decreased the required amount of used enzyme (25 pmol). This was of significance importance when working with less available or expensive purified enzyme. Non-selective adsorption of the organic monolith matrix was reduced (<6%) and the arginase efficient yield was high (92%). The resultant affinity capillary columns showed excellent repeatability and long lifetime. The arginase reaction product was achieved within 60 s and the immobilized arginase retained 97% of the initial activity beyond 90 days. This novel approach can thus be used for the fast evaluation of recognition assay induced bya series of inhibitor molecules (caffeic acid phenylamide, chlorogenic acid, piceatannol, nor-NOHA acetate) and plant extracts.
Digital Game Interventions for Youth Mental Health Services (Gaming My Way to Recovery): Protocol for a Scoping Review.
JMIR research protocols, 2020

Digital or video games are played by millions of adolescents and young adults around the world and are one of the technologies used by youths to access mental health services. Youths with mental health problems strongly endorse the use of technologies, including mobile and online platforms, to receive information, support their treatment journeys (eg, decision-making tools), and facilitate recovery. A growing body of literature explores the advantages of playing digital games for improving attention span and memory, managing emotions, promoting behavior change, and supporting treatment for mental illness (eg, anxiety, depression, or posttraumatic stress disorder). The research field has also focused on the negative impact of video games, describing potential harms related to aggression, addiction, and depression. To promote clarity on this matter, there is a great need for knowledge synthesis offering recommendations on how video games can be safely and effectively adopted and integrated into youth mental health services.
Generalized framework for stimulus artifact removal.
Journal of neuroscience methods, 2010

Stimulation is extensively used in neuroscience research in diverse fields ranging from cognitive to clinical. Studying the effect of electrical and magnetic stimulation on neuronal activity is complicated by large stimulation-derived artifacts on the recording electrodes, which mask the spiking activity. Multiple studies have suggested a variety of solutions for the removal of artifacts and were typically directed at specific stimulation setups. In this study we introduce a generalized framework for stimulus artifacts removal, the Stimulus Artifact Removal Graphical Environment (SARGE). The framework provides an encapsulated environment for a multi-stage removal process, starting from the stimulus pulse detection, through estimation of the artifacts and their removal, and finally to signal reconstruction and the assessment of removal quality. The framework provides the user with subjective graphical and objective quantitative tools for assessing the resulting signal, and the ability to adjust the process to optimize the results. This extendable publicly available framework supports different types of stimulation, stimulation patterns and shapes, and a variety of artifact estimation methods. We exemplify the removal of artifacts generated by electrical micro- and macro-stimulation and magnetic stimulation and different stimulation protocols. The use of different estimation methods, such as averaging and function fitting is demonstrated, and the differences between them are discussed. Finally, the quality of removal is assessed and validated using quantitative measures and combined experimental-simulation studies. The framework marks a shift from "algorithm" and "data" centric approach to a "workflow" centric approach, thus introducing an innovative concept to the artifact removal process.
Twenty years on: Myoclonus-dystonia and ε-sarcoglycan - neurodevelopment, channel, and signaling dysfunction.
Movement disorders : official journal of the Movement Disorder Society, 2019

Myoclonus-dystonia is a clinical syndrome characterized by a typical childhood onset of myoclonic jerks and dystonia involving the neck, trunk, and upper limbs. Psychiatric symptomatology, namely, alcohol dependence and phobic and obsessive-compulsive disorder, is also part of the clinical picture. Zonisamide has demonstrated effectiveness at reducing both myoclonus and dystonia, and deep brain stimulation seems to be an effective and long-lasting therapeutic option for medication-refractory cases. In a subset of patients, myoclonus-dystonia is associated with pathogenic variants in the epsilon-sarcoglycan gene, located on chromosome 7q21, and up to now, more than 100 different pathogenic variants of the epsilon-sarcoglycan gene have been described. In a few families with a clinical phenotype resembling myoclonus-dystonia associated with distinct clinical features, variants have been identified in genes involved in novel pathways such as calcium channel regulation and neurodevelopment. Because of phenotypic similarities with epsilon-sarcoglycan gene-related myoclonus-dystonia, these conditions can be collectively classified as "myoclonus-dystonia syndromes." In the present article, we present myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations, with a focus on genetics and underlying disease mechanisms. Second, we review those conditions falling within the spectrum of myoclonus-dystonia syndromes, highlighting their genetic background and involved pathways. Finally, we critically discuss the normal and pathological function of the epsilon-sarcoglycan gene and its product, suggesting a role in the stabilization of the dopaminergic membrane via regulation of calcium homeostasis and in the neurodevelopmental process involving the cerebello-thalamo-pallido-cortical network. © 2019 International Parkinson and Movement Disorder Society.
Changes in Endogenous Dopamine Induced by Methylphenidate Predict Functional Connectivity in Nonhuman Primates.
The Journal of neuroscience : the official journal of the Society for Neuroscience, 2019

Dopamine (DA) levels in the striatum are increased by many therapeutic drugs, such as methylphenidate (MPH), which also alters behavioral and cognitive functions thought to be controlled by the PFC dose-dependently. We linked DA changes and functional connectivity (FC) using simultaneous [
Fighting neurodegeneration with rapamycin: mechanistic insights.
Nature reviews. Neuroscience, 2011

A growing number of studies point to rapamycin as a pharmacological compound that is able to provide neuroprotection in several experimental models of neurodegenerative diseases, including Alzheimer's disease, Parkinson's disease, Huntington's disease and spinocerebellar ataxia type 3. In addition, rapamycin exerts strong anti-ageing effects in several species, including mammals. By inhibiting the activity of mammalian target of rapamycin (mTOR), rapamycin influences a variety of essential cellular processes, such as cell growth and proliferation, protein synthesis and autophagy. Here, we review the molecular mechanisms underlying the neuroprotective effects of rapamycin and discuss the therapeutic potential of this compound for neurodegenerative diseases.
Interaction between neuropeptide Y (NPY) and brain-derived neurotrophic factor in NPY-mediated neuroprotection against excitotoxicity: a role for microglia.
The European journal of neuroscience, 2008

The neuroprotective effect of neuropeptide Y (NPY) receptor activation was investigated in organotypic mouse hippocampal slice cultures exposed to the glutamate receptor agonist alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA). Exposure of 2-week-old slice cultures, derived from 7-day-old C57BL/6 mice, to 8 microm AMPA, for 24 h, induced degeneration of CA1 and CA3 pyramidal cells, as measured by cellular uptake of propidium iodide (PI). A significant neuroprotection, with a reduction of PI uptake in CA1 and CA3 pyramidal cell layers, was observed after incubation with a Y(2) receptor agonist [NPY(13-36), 300 nm]. This effect was sensitive to the presence of the selective Y(2) receptor antagonist (BIIE0246, 1 microm), but was not affected by addition of TrkB-Fc or by a neutralizing antibody against brain-derived neurotrophic factor (BDNF). Moreover, addition of a Y(1) receptor antagonist (BIBP3226, 1 microm) or a NPY-neutralizing antibody helped to disclose a neuroprotective role of endogenous NPY in CA1 region. Cultures exposed to 8 microm AMPA for 24 h, displayed, as measured by an enzyme-linked immunosorbent assay, a significant increase in BDNF. In such cultures there was an up-regulation of neuronal TrkB immunoreactivity, as well as the presence of BDNF-immunoreactive microglial cells at sites of injury. Thus, an increase of AMPA-receptor mediated neurodegeneration, in the mouse hippocampus, was prevented by neuroprotective pathways activated by NPY receptors (Y(1) and Y(2)), which can be affected by BDNF released by microglia and neurons.
Sport and pelvic floor dysfunction in male and female athletes: A scoping review.
Neurourology and urodynamics, 2021

The aims of the present scoping review were to systematically map and summarize findings to identify any study that reported epidemiological data on pelvic floor dysfunction (PFD) among male and female athletes.
Can the radiological scale "iNPH Radscale" predict tap test response in idiopathic normal pressure hydrocephalus?
Journal of the neurological sciences, 2021

Idiopathic normal pressure hydrocephalus (iNPH) presents typical radiological signs that have been summarised in a semi-quantitative scale named the iNPH Radscale. However, the iNPH Radscale's predictive value for response to cerebrospinal fluid (CSF) tap test has never been studied. This study aims to investigate if the iNPH Radscale can predict locomotion improvement after CSF tap test.
Prolonged day length exposure improves circadian deficits and survival in a transgenic mouse model of Huntington's disease.
Neurobiology of sleep and circadian rhythms, 2017

The circadian disruption seen in patients of Huntington's disease (HD) is recapitulated in the R6/2 mouse model. As the disease progresses, the activity of R6/2 mice increases dramatically during the rest (light) period and decreases during the active (dark) period, eventually leading to a complete disintegration of rest-activity rhythms by the age of ~16 weeks. The suprachiasmatic nucleus controls circadian rhythms by entraining the rest-activity rhythms to the environmental light-dark cycle. Since R6/2 mice can shift their rest-activity rhythms in response to a jet-lag paradigm and also respond positively to bright light therapy (1000 lx), we investigated whether or not a prolonged day length exposure could reduce their daytime activity and improve their behavioural circadian rhythms. We found that a long-day photoperiod (16 h light/8 h dark cycle; 100 lx) significantly improved the survival of R6/2 female mice by 2.4 weeks, compared to mice kept under standard conditions (12 h light/12 h dark cycle). Furthermore, a long-day photoperiod improved the nocturnality of R6/2 female mice. Mice kept under long-day photoperiod also maintained acrophase in activity rhythms (a parameter of rhythmicity strength) in phase with that of WT mice, even if they were symptomatic. By contrast, a short-day photoperiod (8 h light/16 h dark cycle) was deleterious to R6/2 female mice and further reduced the survival by ~1 week. Together, our results support the idea that light therapy may be beneficial for improving circadian dysfunction in HD patients.
Sexual dysfunction in women with multiple sclerosis: prevalence and impact on quality of life.
BMC urology, 2020

Sexual function is a component of quality of life, and sexual dysfunction entails reduced satisfaction with life and impaired mood and quality of relationships and affects not only the individual's quality of life, but her partner's life as well. Since Sexual Dysfunction (SD) is among the most common complaints of patients with Multiple Sclerosis (MS), this study was conducted to determine the prevalence of SD among women with MS and its effect on quality of life.
Intra-Arterial Verapamil Treatment in Oral Therapy-Refractory Reversible Cerebral Vasoconstriction Syndrome.
AJNR. American journal of neuroradiology, 2020

Reversible vasoconstriction syndrome is a complex of clinical symptoms and angiographic findings, which, while having a mostly benign clinical course, has clinical and imaging overlap with more serious disorders such as vasculitis and aneurysmal SAH and itself includes a minority of patients with fulminant vasoconstriction resulting in severe intracranial complications. Endovascular options for patients with refractory reversible cerebral vasoconstriction syndrome include intra-arterial vasodilator infusion similar to therapy for patients with vasospasm after SAH. To date, only case reports and 1 small series have discussed the utility of intra-arterial vasodilators for the treatment of reversible cerebral vasoconstriction syndrome. We report an additional series of 11 medically refractory cases of presumed or proved reversible cerebral vasoconstriction syndrome successfully treated with intra-arterial verapamil infusion. Furthermore, we propose that the reversal of vasoconstriction, as seen on angiography, could fulfill a diagnostic criterion.
Multimodal investigations of trans-endothelial cell trafficking under condition of disrupted blood-brain barrier integrity.
BMC neuroscience, 2010

Stem cells or immune cells targeting the central nervous system (CNS) bear significant promises for patients affected by CNS disorders. Brain or spinal cord delivery of therapeutic cells is limited by the blood-brain barrier (BBB) which remains one of the recognized rate-limiting steps. Osmotic BBB disruption (BBBD) has been shown to improve small molecule chemotherapy for brain tumors, but successful delivery of cells in conjunction with BBBD has never been reported.We have used a clinically relevant model (pig) of BBBD to attempt brain delivery of TALL-104, a human leukemic T cell line. TALL-104 cells are potent tumor killers and have demonstrated potential for systemic tumor therapy. The pig model used is analogous to the clinical BBBD procedure. Cells were injected in the carotid artery after labeling with the MRI T1 contrast agent GdHPDO3A. Contrast CT scans were used to quantify BBBD and MRI was used to detect Gd++-loaded cells in the brain. Transcranial Doppler was used to monitor cerebral blood flow. EEG recordings were used to detect seizures. Immunocytochemical detection (Cresyl Violet, anti-human CD8 for TALL-104, Evans Blue for BBB damage, GFAP and NEUN) was performed.
Internet Usage Habits and Experienced Levels of Psychopathology: A Pilot Study on Association with Spontaneous Eye Blinking Rate.
Journal of personalized medicine, 2021

Increasing availability of the internet has resulted in the increased prevalence of problematic online behaviors. Reliable and affordable neurobiological and psychological biomarkers that distinguish problematic internet use (PIU) from functional online activities are of utmost importance. Previous studies have shown a relationship between spontaneous eye blinking rate (sEBR) and changes in dopamine regulation in neurological and psychiatric disorders, including substance use disorders. In this study, we utilized sEBR to examine the potential link between individual differences in dopaminergic neurotransmission and PIU. In sum, 62 subjects participated in this study (median age 25, IQR 6 years, 34 females). The Problematic Internet Use Questionnaire (PIUQ-9), Beck Depression Inventory (BDI-II), Beck Anxiety Inventory (BAI), Clark-Beck Obsessive-Compulsive Inventory (CBOCI) and Barratt Impulsiveness Scale (BIS-11) were used for psychological assessment. The sEBRs were assessed with an electrooculogram recorded from above and below the left eye and from the right and left outer canthi. The group with PIU (PIUQ-9 > 20) expressed higher levels of impulsivity and compulsive behavior symptoms than the control group. In the group with PIU, impulsivity levels were inversely related to sEBR, and a trend of negative association of sEBR with compulsive behavior was observed. Future research should enroll subjects with high levels of PIU and strongly expressed psychopathology levels to further address the utility of sEBR as a potential biomarker.
Intrinsic plasticity: an emerging player in addiction.
Nature reviews. Neuroscience, 2015

Exposure to drugs of abuse, such as cocaine, leads to plastic changes in the activity of brain circuits, and a prevailing view is that these changes play a part in drug addiction. Notably, there has been intense focus on drug-induced changes in synaptic excitability and much less attention on intrinsic excitability factors (that is, excitability factors that are remote from the synapse). Accumulating evidence now suggests that intrinsic factors such as K+ channels are not only altered by cocaine but may also contribute to the shaping of the addiction phenotype.