rudyvdbrink/CitationDatabase huggingface dataset:
Music processing deficits in Landau-Kleffner syndrome: Four case studies in adulthood.
Cortex; a journal devoted to the study of the nervous system and behavior, 2020

Verbal-auditory agnosia and aphasia are the most prominent symptoms in Landau-Kleffner syndrome (LKS), a childhood epilepsy that can have sustained long-term effects on language processing. The present study provides the first objective investigation of music perception skills in four adult patients with a diagnosis of LKS during childhood, covering the spectrum of severity of the syndrome from mild to severe. Pitch discrimination, short-term memory for melodic, rhythmic and verbal information, as well as emotion recognition in music and speech prosody were assessed with listening tests, and subjective attitude to music with a questionnaire. We observed amusia in 3 out of 4 patients, with elevated pitch discrimination thresholds and poor short-term memory for melody and rhythm. The two patients with the most severe LKS had impairments in music and prosody emotion recognition, but normal perception of emotional intensity of music. Overall, performance in music processing tasks was proportional to the severity of the syndrome. Nonetheless, the four patients reported that they enjoyed music, felt musical emotions, and used music in their daily life. These new data support the hypothesis that, beyond verbal impairments, cerebral networks involved in sound processing and encoding are deeply altered by the epileptic activity in LKS, well after electrophysiological normalization.
Evidence for the cholinergic markers ChAT and vAChT in sensory cells of the developing antennal nervous system of the desert locust Schistocerca gregaria.
Invertebrate neuroscience : IN, 2020

Sensory and motor systems in insects with hemimetabolous development must be ready to mediate adaptive behavior directly on hatching from the egg. For the desert locust S. gregaria, cholinergic transmission from antennal sensillae to olfactory or mechanosensory centers in the brain requires that choline acetyltransferase (ChAT) and the vesicular acetylcholine transporter (vAChT) already be present in sensory cells in the first instar. In this study, we used immunolabeling to demonstrate that ChAT and vAChT are both expressed in sensory cells from identifiable sensilla types in the immature antennal nervous system. We observed ChAT expression in dendrites, neurites and somata of putative basiconic-type sensillae at the first instar stage. We also detected vAChT in the sensory axons of these sensillae in a major antennal nerve tract. We then examined whether evidence for cholinergic transmission is present during embryogenesis. Immunolabeling confirms that vAChT is expressed in somata typical of campaniform sensillae, as well as in small sensory cell clusters typically associated with either a large basiconic or coeloconic sensilla, at 99% of embryogenesis. The vAChT is also expressed in the somata of these sensilla types in multiple antennal regions at 90% of embryogenesis, but not at earlier (70%) embryonic stages. Neuromodulators are known to appear late in embryogenesis in neurons of the locust central complex, and the cholinergic system of the antenna may also only reach maturity shortly before hatching.
Association between DNA methylation and ADHD symptoms from birth to school age: a prospective meta-analysis.
Translational psychiatry, 2020

Attention-deficit and hyperactivity disorder (ADHD) is a common childhood disorder with a substantial genetic component. However, the extent to which epigenetic mechanisms play a role in the etiology of the disorder is unknown. We performed epigenome-wide association studies (EWAS) within the Pregnancy And Childhood Epigenetics (PACE) Consortium to identify DNA methylation sites associated with ADHD symptoms at two methylation assessment periods: birth and school age. We examined associations of both DNA methylation in cord blood with repeatedly assessed ADHD symptoms (age 4-15 years) in 2477 children from 5 cohorts and of DNA methylation at school age with concurrent ADHD symptoms (age 7-11 years) in 2374 children from 9 cohorts, with 3 cohorts participating at both timepoints. CpGs identified with nominal significance (p < 0.05) in either of the EWAS were correlated between timepoints (ρ = 0.30), suggesting overlap in associations; however, top signals were very different. At birth, we identified nine CpGs that predicted later ADHD symptoms (p < 1 × 10
Age-Related Distinctions in EEG Signals during Execution of Motor Tasks Characterized in Terms of Long-Range Correlations.
Sensors (Basel, Switzerland), 2020

The problem of revealing age-related distinctions in multichannel electroencephalograms (EEGs) during the execution of motor tasks in young and elderly adults is addressed herein. Based on the detrended fluctuation analysis (DFA), differences in long-range correlations are considered, emphasizing changes in the scaling exponent α. Stronger responses in elderly subjects are confirmed, including the range and rate of increase in α. Unlike elderly subjects, young adults demonstrated about 2.5 times more pronounced differences between motor task responses with the dominant and non-dominant hand. Knowledge of age-related changes in brain electrical activity is important for understanding consequences of healthy aging and distinguishing them from pathological changes associated with brain diseases. Besides diagnosing age-related effects, the potential of DFA can also be used in the field of brain-computer interfaces.
Core neurocognitive functions in children treated for posterior fossa tumors.
Neuropsychology, 2008

Identifying cognitive deficits associated with pediatric brain tumors and their treatment is important in delineating the mechanisms of intellectual decline often associated with these diseases. The authors evaluated sustained attention, information processing speed, working memory, and IQ in 64 patients with posterior fossa tumors, including those treated with either: (a) surgery and cranial radiation (n = 32), and (b) surgery without radiation (n = 32). Ten patients treated for non-CNS solid tumors were included as a comparison group. The authors also examined the impact of relevant demographic and medical variables on neurocognitive outcome. The authors found that neither age at, nor time since, diagnosis predicted cognitive outcome in this sample. Further, sustained attention and working memory were largely intact and there were no differences between groups. Patients treated with cranial radiation demonstrated lowered short-form IQ and slow information processing speed: Patients treated with cranial radiation and who experienced postsurgical complications demonstrated the poorest performance. The authors consider information processing speed to be an excellent candidate mechanism in understanding the impact of cranial radiation on intellectual outcome.
Neuroharmony: A new tool for harmonizing volumetric MRI data from unseen scanners.
NeuroImage, 2020

• We present Neuroharmony, a harmonization tool for images from unseen scanners. • We developed Neuroharmony using a total of 15,026 sMRI images. • The tool was able to reduce scanner-related bias from unseen scans. • Neuroharmony represents a significant step towards imaging-based clinical tools. • Neuroharmony is available at https://github.com/garciadias/Neuroharmony.
Sci-Sat AM: Brachy - 01: Evaluation of dose-volume metrics for microbeam radiation therapy.
Medical physics, 2012

Microbeam radiation therapy (MRT) is an experimental technique delivering an array of high dose synchrotron X-ray microbeams. Development of metrics to predict the biological efficacy of MRT dose distributions is needed to guide further MRT research and for potential translation to human trials. The most commonly used metric is the peak-to-valley-dose ratio (PVDR) relating the dose at the microbeam center to that between two microbeams. We investigate three additional metrics that characterize dose distributions from a more volumetric perspective - the peak-to-mean-valley-dose ratio (PMVDR), mean dose, and percentage volume below a threshold. The metrics are evaluated for Monte Carlo simulations of dose distributions in three cubic head phantoms (2, 4 and 8 cm side lengths) for microbeam widths of 25, 50, and 75 μm and centre-to-centre spacings of 100, 200 and 400 μm. The ratio of the PMVDR to the PVDR varied from 0.24 to 0.80 for the different configurations, indicating a difference in the predicted geometric dependence of outcome for these two metrics. The mean dose was 102, 79, and 42 % of the mean skin dose for the 2, 8, and 16 cm head phantoms, respectively. The percentage volume below a 10% dose threshold was highly dependent on geometry, with ranges for the different collimation configurations of 2 - 87% and 33 - 96% for the 2 and 16 cm heads, respectively. Different dose-volume metrics exhibit different dependencies on MRT geometry parameters, suggesting that reliance on PVDR as a predictor of therapeutic outcome may be insufficient.
Localized Prediction of Glutamate from Whole-Brain Functional Connectivity of the Pregenual Anterior Cingulate Cortex.
The Journal of neuroscience : the official journal of the Society for Neuroscience, 2020

Local measures of neurotransmitters provide crucial insights into neurobiological changes underlying altered functional connectivity in psychiatric disorders. However, noninvasive neuroimaging techniques such as magnetic resonance spectroscopy (MRS) may cover anatomically and functionally distinct areas, such as
The Brain Prize 2011: From Microcircuit Organization to Constellations of Brain Rhythms.
Trends in neurosciences, 2011

The Grete Lundbeck European Brain Research Foundation awarded the inaugural Brain Prize 2011 to Péter Somogyi, Tamás Freund and György Buzsáki 'for their wide-ranging, technically and conceptually brilliant research on the functional organization of neuronal circuits in the cerebral cortex, especially in the hippocampus, a region that is crucial for certain forms of memory'. The present article highlights key findings and major conceptual contributions by these three scientists that were recognized by the award.
The Role of Sexual Desire, Sexual Satisfaction, and Relationship Satisfaction in the Sexual Function of Arab Couples Living in Saudi Arabia.
Sexual medicine, 2021

This study is one of the first to examine the association between relationship and sexual variables as approached from a dyadic perspective in Saudi Arabian couples. Theoretical models assign an important role to relationship factors in women's sexuality.
Technology-Based Behavioral Interventions for Daily Activities and Supported Ambulation in People With Alzheimer's Disease.
American journal of Alzheimer's disease and other dementias, 2018

These 2 studies evaluated technology-based behavioral interventions for promoting daily activities and supported ambulation in people with mild-to-moderate and moderate-to-severe Alzheimer's disease, respectively.
Age-related white matter changes revealed by a whole-brain fiber-tracking method in bipolar disorder compared to major depressive disorder and healthy controls.
Psychiatry and clinical neurosciences, 2021

Several studies have reported altered age-associated changes in white matter integrity in bipolar disorder (BD). However, little is known as to whether these age-related changes are illness-specific. We assessed disease-specific effects by controlling for age and investigated age-associated changes and Group × Age interactions in white matter integrity among major depressive disorder (MDD) patients, BD patients, and healthy controls.
Intraneural perineurioma of unilateral radial and median nerves manifesting with long-standing focal amyotrophy in a 14-year-old-boy.
Journal of clinical neuromuscular disease, 2013

Intraneural perineuriomas are rare tumors of the peripheral nerves with unique immunohistochemical findings. In this report, we highlight the clinical and imaging findings of an adolescent male with histologically proven intraneural perineurioma involving multiple nerves. The salient features included a clinically progressive course, imaging evidence of involvement of long segments of multiple nerves, enlargement of individual fascicles within the affected nerves, and intense contrast enhancement of the enlarged fascicles. The identification of enlarged fascicles with intense contrast enhancement within the affected and distended nerve segments may aid in distinguishing intraneural perineurioma from other tumors affecting the peripheral nerves.
Nociceptive pain unmasking a serious pathology - paraneoplastic hypertrophic osteoarthropathy: A case report.
Medicine, 2019

Hypertrophic osteoarthropathy, also named Pierre Marie-Bamberger syndrome, represents a rare medical condition that may be considered either a primary or a secondary disease, and lung malignancies are responsible for more than two-thirds of the cases with secondary forms of the disease.
Peripheral deficiency and antiallodynic effects of 2-arachidonoyl glycerol in a mouse model of paclitaxel-induced neuropathic pain.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie, 2020

Modulation of the endocannabinoid system has been shown to alleviate neuropathic pain. The aim of this study was to evaluate if treatment with paclitaxel, a chemotherapeutic agent that induces neuropathic pain, affects endocannabinoid levels at a time when mice develop paclitaxel-induced mechanical allodynia. We also evaluated the peripheral antiallodynic activity of the endocannabinoid 2-arachidonoyl glycerol (2-AG) and an inhibitor of monoacylglycerol lipase (MAGL), an enzyme responsible for 2-AG hydrolysis.
Parsing Physiological Functions of Erythropoietin One Domain at a Time.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 2015

A domain of erythropoietin (EPO), separate from the domain involved in red blood cell development, has been identified. This region of EPO has anti-inflammatory and neuroprotective effects. Use of a peptide sequence from this region provides the potential for an effective therapeutic without effects on erythropoiesis.
Transsaccadic visual perception of foveal compared to peripheral environmental changes.
Journal of vision, 2021

The maintenance of stable visual perception across eye movements is hypothesized to be aided by extraretinal information (e.g., corollary discharge [CD]). Previous studies have focused on the benefits of this information for perception at the fovea. However, there is little information on the extent that CD benefits peripheral visual perception. Here we systematically examined the extent that CD supports the ability to perceive transsaccadic changes at the fovea compared to peripheral changes. Human subjects made saccades to targets positioned at different amplitudes (4° or 8°) and directions (rightward or upward). On each trial there was a reference point located either at (fovea) or 4° away (periphery) from the target. During the saccade the target and reference disappeared and, after a blank period, the reference reappeared at a shifted location. Subjects reported the perceived shift direction, and we determined the perceptual threshold for detection and estimate of the reference location. We also simulated the detection and location if subjects solely relied on the visual error of the shifted reference experienced after the saccade. The comparison of the reference location under these two conditions showed that overall the perceptual estimate was approximately 53% more accurate and 30% less variable than estimates based solely on visual information at the fovea. These values for peripheral shifts were consistently lower than that at the fovea: 34% more accurate and 9% less variable. Overall, the results suggest that CD information does support stable visual perception in the periphery, but is consistently less beneficial compared to the fovea.
Bilateral aniridia and congenital ureteral valve: Role of genetic testing.
Molecular genetics & genomic medicine, 2020

Congenital aniridia involves total or partial hypoplasia of the iris and is due to a deficiency in PAX6 gene expression. WAGR syndrome is comprised of Wilms tumor, aniridia, genitourinary abnormalities, and intellectual disability. Numerous genitourinary pathologies may be associated with WAGR syndrome, necessitating an evaluation of the genitourinary anatomy. The WT1 is vital for the development of kidneys, ovaries in females, and testes in males. WT1 gene mutations result in a WT1 protein with a decreased ability to bind to DNA, leading to uncontrolled growth, and cell division in the kidney which permits the development of Wilms tumor. A congenital ureteral valve is an exceedingly rare cause of obstructive uropathy.
Activation of hypothalamic AgRP and POMC neurons evokes disparate sympathetic and cardiovascular responses.
American journal of physiology. Heart and circulatory physiology, 2020

The arcuate nucleus of the hypothalamus (ARC) plays a key role in linking peripheral metabolic status to the brain melanocortin system, which influences a wide range of physiological processes including the sympathetic nervous system and blood pressure. The importance of the activity of agouti-related peptide (AgRP)- and proopiomelanocortin (POMC)-expressing neurons, two molecularly distinct populations of ARC neurons, for metabolic regulation is well established, but their relevance for sympathetic and cardiovascular control remains unclear. We used designer receptors exclusively activated by designer drug (DREADD) technology to study how activation of AgRP and POMC neurons affect renal sympathetic nerve traffic and blood pressure. In addition to the drastic feeding-stimulatory effect, DREADD-mediated activation of AgRP, but not POMC neurons, induced an acute reduction in renal sympathetic nerve activity in conscious mice. Paradoxically, however, DREADD-mediated chronic activation of AgRP neurons caused a significant increase in blood pressure specifically in the inactive light phase. On the other hand, chronic activation of POMC neurons led to a significant reduction in blood pressure. These results bring new insights to a previously unappreciated role of ARC AgRP and POMC neuronal activity in autonomic and cardiovascular regulation.
Interregulation between fragile X mental retardation protein and methyl CpG binding protein 2 in the mouse posterior cerebral cortex.
Human molecular genetics, 2021

Several X-linked neurodevelopmental disorders including Rett syndrome, induced by mutations in the MECP2 gene, and fragile X syndrome (FXS), caused by mutations in the FMR1 gene, share autism-related features. The mRNA coding for methyl CpG binding protein 2 (MeCP2) has previously been identified as a substrate for the mRNA-binding protein, fragile X mental retardation protein (FMRP), which is silenced in FXS. Here, we report a homeostatic relationship between these two key regulators of gene expression in mouse models of FXS (Fmr1 Knockout (KO)) and Rett syndrome (MeCP2 KO). We found that the level of MeCP2 protein in the cerebral cortex was elevated in Fmr1 KO mice, whereas MeCP2 KO mice displayed reduced levels of FMRP, implicating interplay between the activities of MeCP2 and FMRP. Indeed, knockdown of MeCP2 with short hairpin RNAs led to a reduction of FMRP in mouse Neuro2A and in human HEK-293 cells, suggesting a reciprocal coupling in the expression level of these two regulatory proteins. Intra-cerebroventricular injection of an adeno-associated viral vector coding for FMRP led to a concomitant reduction in MeCP2 expression in vivo and partially corrected locomotor hyperactivity. Additionally, the level of MeCP2 in the posterior cortex correlated with the severity of the hyperactive phenotype in Fmr1 KO mice. These results demonstrate that MeCP2 and FMRP operate within a previously undefined homeostatic relationship. Our findings also suggest that MeCP2 overexpression in Fmr1 KO mouse posterior cerebral cortex may contribute to the fragile X locomotor hyperactivity phenotype.
Sleepiness and cognition in young adults who gamble and use alcohol.
Journal of behavioral addictions, 2014

Past research suggests that sleep problems are associated with increased risky decision-making. Similarly, gambling disorder and alcohol use disorder are also associated with increased risky decision-making. Individuals with gambling disorder or alcohol use disorder have also reported higher rates of sleep problems compared to normal healthy controls. As such, we sought to examine whether sleep problems play a role in the development of alcohol use disorder or gambling disorder.
Poisson balanced spiking networks.
PLoS computational biology, 2020

An important problem in computational neuroscience is to understand how networks of spiking neurons can carry out various computations underlying behavior. Balanced spiking networks (BSNs) provide a powerful framework for implementing arbitrary linear dynamical systems in networks of integrate-and-fire neurons. However, the classic BSN model requires near-instantaneous transmission of spikes between neurons, which is biologically implausible. Introducing realistic synaptic delays leads to an pathological regime known as "ping-ponging", in which different populations spike maximally in alternating time bins, causing network output to overshoot the target solution. Here we document this phenomenon and provide a novel solution: we show that a network can have realistic synaptic delays while maintaining accuracy and stability if neurons are endowed with conditionally Poisson firing. Formally, we propose two alternate formulations of Poisson balanced spiking networks: (1) a "local" framework, which replaces the hard integrate-and-fire spiking rule within each neuron by a "soft" threshold function, such that firing probability grows as a smooth nonlinear function of membrane potential; and (2) a "population" framework, which reformulates the BSN objective function in terms of expected spike counts over the entire population. We show that both approaches offer improved robustness, allowing for accurate implementation of network dynamics with realistic synaptic delays between neurons. Both Poisson frameworks preserve the coding accuracy and robustness to neuron loss of the original model and, moreover, produce positive correlations between similarly tuned neurons, a feature of real neural populations that is not found in the deterministic BSN. This work unifies balanced spiking networks with Poisson generalized linear models and suggests several promising avenues for future research.
Charles Bonnet syndrome versus Occipital Epilepsy, a diagnostic challenge.
Acta bio-medica : Atenei Parmensis, 2018

Charles Bonnet Syndrome (CBS) is a disorder with visual deficit and complex recurrent visual hallucination in conscious patients, described for the first time by Charles Bonnet. It has been found in association with variable pathologic conditions of the eyes, central visual pathways and occipital lobe. Occipital lobe lesion is an important cause of visual field deficit associated with elementary simple hallucinations, whereas complex hallucinations are related to occipitotemporal and occipitoparietal visual association neocortex damage.