rudyvdbrink/CitationDatabase huggingface dataset:
A novel pathogenic pathway of immune activation detectable before clinical onset in Huntington's disease.
The Journal of experimental medicine, 2008

Huntington's disease (HD) is an inherited neurodegenerative disorder characterized by both neurological and systemic abnormalities. We examined the peripheral immune system and found widespread evidence of innate immune activation detectable in plasma throughout the course of HD. Interleukin 6 levels were increased in HD gene carriers with a mean of 16 years before the predicted onset of clinical symptoms. To our knowledge, this is the earliest plasma abnormality identified in HD. Monocytes from HD subjects expressed mutant huntingtin and were pathologically hyperactive in response to stimulation, suggesting that the mutant protein triggers a cell-autonomous immune activation. A similar pattern was seen in macrophages and microglia from HD mouse models, and the cerebrospinal fluid and striatum of HD patients exhibited abnormal immune activation, suggesting that immune dysfunction plays a role in brain pathology. Collectively, our data suggest parallel central nervous system and peripheral pathogenic pathways of immune activation in HD.
Restless Leg Syndrome in the Setting of Patients With End-Stage Renal Disease on Hemodialysis: A Literature Review.
Cureus, 2020

Restless Leg Syndrome (RLS), or Willis-Ekbom disease (WED), is an irresistible urge to move the legs, predominantly while resting, sitting, or sleeping, which disrupts sleep and impairs quality of life. RLS can occur secondary to uremia in chronic kidney disease (CKD) patients due to inadequate hemodialysis. Early diagnosis is essential to prevent muscular atrophy and to improve the quality of life of RLS patients, especially those with end-stage renal disease (ESRD). Cardiac mortality high in uremic RLS patients due to associated discomfort and lowering the duration of hemodialysis treatment. This review focuses on and discusses the diagnosis, treatment, and associated comorbid conditions of uremic RLS. Though the exact pathophysiology is unknown, altered transferrin expression in the choroid plexus, increased glutamate levels in the thalamus, decreased opioid receptors, dopamine system dysfunction, calcium/phosphate imbalance, and single nucleotide polymorphisms in the BTBD9 and MEIS1 genes are a few nonconfirmatory pathophysiological concepts for uremic RLS. Nonpharmacological options include lowering the temperature of dialysate by 1 degree C and home-based therapies like massages, warm/cold baths, and aerobic exercises. Pharmacological therapy like dopamine agonists ropinirole and pramipexole reduces the symptoms effectively. However, surgical options like parathyroidectomy and renal transplantation are stated as the best treatment options in patients suffering from uremic RLS.
The influence of unattended features on object processing depends on task demand.
Vision research, 2012

Objects consist of features such as shape, motion and color, all of which can be selectively used for different object processing tasks. The present study investigated whether task demands influenced how well participants attended to features of novel colored dynamic objects that were task-relevant while ignoring those that were task-irrelevant. To address this, we used tasks which had different perceptual, learning and memory demands. The unattended features were systematically changed to measure their effects on how well participants could process the attended feature. In Experiment 1, participants discriminated simultaneously presented objects on the basis their shape or motion. We found that changes to unattended motion and color did not affect participants' sensitivity to discriminate the attended feature but changes to unattended shape did. We also found that changes to unattended motion impaired how quickly observers responded. In Experiment 2, participants identified learned objects at the individual level on the basis of their shape or motion. We found that changes to any unattended features affected accuracy and reaction times. Overall, these results point to an important role of task demands in object processing: Task demands can influence whether task-irrelevant features affect object-processing performance.
Differences in bingeing behavior and cocaine reward following intermittent access to sucrose, glucose or fructose solutions.
Neuroscience, 2015

Daily intermittent access to sugar solutions results in intense bouts of sugar intake (i.e. bingeing) in rats. Bingeing on sucrose, a disaccharide of glucose and fructose, has been associated with a "primed" mesolimbic dopamine (DA) pathway. Recent studies suggest glucose and fructose engage brain reward and energy-sensing mechanisms in opposing ways and may drive sucrose intake through unique neuronal circuits. Here, we examined in male Sprague-Dawley rats whether or not (1) intermittent access to isocaloric solutions of sucrose, glucose or fructose results in distinctive sugar-bingeing profiles and (2) previous sugar bingeing alters cocaine locomotor activation and/or reward, as determined by conditioned place preference (CPP). To encourage bingeing, rats were given 24-h access to water and 12-h-intermittent access to chow plus an intermittent bottle that contained water (control) or 8% solutions of sucrose, glucose or fructose for 9days, followed by ad libitum chow diet and a 10-day cocaine (15mg/kg; i.p.) CPP paradigm. By day 4 of the sugar-bingeing diet, sugar bingeing in the fructose group surpassed the glucose group, with the sucrose group being intermediate. All three sugar groups had similar chow and water intake throughout the diet. In contrast, controls exhibited chow bingeing by day 5 without altering water intake. Similar magnitudes of cocaine CPP were observed in rats with a history of sucrose, fructose or chow (control) bingeing. Notably, the glucose-bingeing rats did not demonstrate a significant cocaine CPP despite showing similar cocaine-induced locomotor activity as the other diet groups. Overall, these results show that fructose and glucose, the monosaccharide components of sucrose, produce divergent degrees of bingeing and cocaine reward.
The expression of PTEN in the development of mouse cochlear lateral wall.
Neuroscience, 2014

Phosphatase and tensin homolog deleted on chromosome 10 (PTEN) is a tumor suppressor gene that regulates various cell processes including proliferation, growth, synaptogenesis, neural and glioma stem/progenitor cell renewal. In addition, PTEN can regulate sensory cell proliferation and differentiation of hair bundles in the mammalian cochlea. In this study we use immunofluorescence, Western blot and reverse transcriptase-polymerase chain reaction (RT-PCR) to reveal the expression of PTEN in the developing cochlear lateral wall, which is crucial for regulating K(+) homeostasis. Relatively high levels of PTEN are initially expressed in the marginal cells (MCs) of the lateral wall at embryonic day (E) 17.5 when they start to differentiate. Similarly high levels are subsequently expressed in differentiating root cells (RCs) at postnatal day (P) 3 and then in spiral ligament fibrocytes (SLFs) at P 10. In the mature cochlea, PTEN expression is low or undetectable in MCs and SLFs but it remains high in RCs and their processes. The expression pattern for PTEN in the developing lateral wall suggests that it plays a critical role in the differentiation of the cellular pathways that regulate K(+) homeostasis in the cochlea.
Influence of external contextual factors on the implementation of health and social care interventions into practice within or across countries-a protocol for a 'best fit' framework synthesis.
Systematic reviews, 2019

The widespread implementation of interventions is often hindered by a decline and variability in effectiveness across implementation sites. It is anticipated that variations in the characteristics of the external context in different sites, such as the political and funding environment, socio-cultural context, physical environment or population demographics can influence implementation outcome. However, there is only a limited understanding about which and how external contextual factors influence implementation. We aim to develop a comprehensive framework conceptualising the influence of external contextual factors on implementation, particularly when spreading health and social care interventions within or across countries.
Usefulness of simultaneous EEG-NIRS recording in language studies.
Brain and language, 2012

One of the most challenging tasks in neuroscience in language studies, is investigation of the brain's ability to integrate and process information. This task can only be successfully addressed by applying various assessment techniques integrated into a multimodal approach. Each of these techniques has its advantages and disadvantages, but help to elucidate certain aspects of the capacity of neural networks to process information. These methods provide information about changes in electrical, hemodynamic and metabolic activities. Ideally, they should be noninvasive in order to facilitate their use particularly in children. In the present review, we describe the advantages of simultaneous electroencephalographic (EEG) acquisition with near infrared spectroscopy (NIRS) to provide a better understanding of the mechanisms involved in cerebral activation. This coregistration is also useful to avoid misleading interpretation of NIRS, notably during the various phases of sleep. Development and implementation of the various tools required and assessment strategies are also discussed.
Herbalists' perception of risks involving commonly sold medicinal plants in Italy.
Complementary therapies in medicine, 2014

Although there are several studies which have investigated pharmacists' knowledge of the safety of medicinal plants (MPs), no studies have examined herbalists' perception of risks associated with MPs.
Measuring Psychiatric Symptoms Remotely: a Systematic Review of Remote Measurement-Based Care.
Current psychiatry reports, 2018

This article systematically reviews studies examining remote measurement-based care (RMBC), defined as using technology to measure patients' psychiatric symptoms outside the context of a clinical encounter.
A 63-Year-Old Man Presents With Slowly Progressive Dyspnea on Exertion and Lower Extremity Muscle Weakness.
Chest, 2018

A 63-year-old man was referred for slowly progressive dyspnea on exertion that had developed over 7 years. Dyspnea was initially only present during high-intensity physical activity, but was now present while walking rapidly on a flat surface. Symptoms were accentuated while supine and when bending forward. He reported respiratory difficulties when submerged in water and a recent onset of slight symmetric lower limb weakness that was only apparent during strenuous physical activity. He also had OSA, which was adequately controlled with continuous positive airway pressure therapy. Neurologic and rheumatologic histories were otherwise unremarkable. He denied any impact accidents or trauma to the cervical spine and prior neck or thoracic surgeries.
The Koukopoulos Mixed Depression Rating Scale (KMDRS): An International Mood Network (IMN) validation study of a new mixed mood rating scale.
Journal of affective disorders, 2018

It has been proposed that the broad major depressive disorder (MDD) construct is heterogenous. Koukopoulos has provided diagnostic criteria for an important subtype within that construct, "mixed depression" (MxD), which encompasses clinical pictures characterized by marked psychomotor or inner excitation and rage/anger, along with severe depression. This study provides psychometric validation for the first rating scale specifically designed to assess MxD symptoms cross-sectionally, the Koukopoulos Mixed Depression Rating Scale (KMDRS).
Emotional processes and stress in children affected by hereditary angioedema with C1-inhibitor deficiency: a multicenter, prospective study.
Orphanet journal of rare diseases, 2018

Hereditary angioedema with C1-inhibitor deficiency (C1-INH-HAE) is characterized by recurrent edema of unpredictable frequency and severity. Stress, anxiety, and low mood are among the triggering factors most frequently reported. Impaired regulation and processing of emotions, also known as alexithymia, may influence outcomes. The aim of this study was to confirm the presence of alexithymia and stress in children with C1-INH-HAE, to determine whether they are also present in children affected by other chronic diseases, and to investigate their relationship with C1-INH-HAE severity. Data from children with C1-INH-HAE (n = 28) from four reference centers in Italy were compared with data from children with type 1 diabetes (T1D; n = 23) and rheumatoid arthritis (RA; n = 25). Alexithymia was assessed using the Alexithymia Questionnaire for Children scale; perceived stress was assessed using the Coddington Life Event Scale for Children (CLES-C).
Excitatory-inhibitory balance within EEG microstates and resting-state fMRI networks: assessed via simultaneous trimodal PET-MR-EEG imaging.
Translational psychiatry, 2021

The symbiosis of neuronal activities and glucose energy metabolism is reflected in the generation of functional magnetic resonance imaging (fMRI) and electroencephalography (EEG) signals. However, their association with the balance between neuronal excitation and inhibition (E/I-B), which is closely related to the activities of glutamate and γ-aminobutyric acid (GABA) and the receptor availability (RA) of GABA
Unusual regulation of splicing of the cholinergic locus in Caenorhabditis elegans.
Genetics, 2015

The essential neurotransmitter acetylcholine functions throughout the animal kingdom. In Caenorhabditis elegans, the acetylcholine biosynthetic enzyme [choline acetyltransferase (ChAT)] and vesicular transporter [vesicular acetylcholine transporter (VAChT)] are encoded by the cha-1 and unc-17 genes, respectively. These two genes compose a single complex locus in which the unc-17 gene is nested within the first intron of cha-1, and the two gene products arise from a common pre-messenger RNA (pre-mRNA) by alternative splicing. This genomic organization, known as the cholinergic gene locus (CGL), is conserved throughout the animal kingdom, suggesting that the structure is important for the regulation and function of these genes. However, very little is known about CGL regulation in any species. We now report the identification of an unusual type of splicing regulation in the CGL of C. elegans, mediated by two pairs of complementary sequence elements within the locus. We show that both pairs of elements are required for efficient splicing to the distal acceptor, and we also demonstrate that proper distal splicing depends more on sequence complementarity within each pair of elements than on the sequences themselves. We propose that these sequence elements are able to form stem-loop structures in the pre-mRNA; such structures would favor specific splicing alternatives and thus regulate CGL splicing. We have identified complementary elements at comparable locations in the genomes of representative species of other animal phyla; we suggest that this unusual regulatory mechanism may be a general feature of CGLs.
Neuregulin 1/ErbB4 signaling contributes to the anti-epileptic effects of the ketogenic diet.
Cell & bioscience, 2021

The ketogenic diet (KD) has been recognized as a potentially effective therapy to treat neuropsychiatric diseases, including epilepsy. Previous studies have indicated that KD treatment elevates γ-Amino butyric acid (GABA) levels in both human and murine brains, which presumably contributes to the KD's anti-seizure effects. However, this has not been systematically investigated at the synaptic level, and the underlying molecular mechanisms remain to be elucidated.
A role for the orphan nuclear receptor TLX in the interaction between neural precursor cells and microglia.
Neuronal signaling, 2019

Microglia are an essential component of the neurogenic niche in the adult hippocampus and are involved in the control of neural precursor cell (NPC) proliferation, differentiation and the survival and integration of newborn neurons in hippocampal circuitry. Microglial and neuronal cross-talk is mediated in part by the chemokine fractalkine/chemokine (C-X3-C motif) ligand 1 (CX3CL1) released from neurons, and its receptor CX3C chemokine receptor 1 (CX3CR1) which is expressed on microglia. A disruption in this pathway has been associated with impaired neurogenesis yet the specific molecular mechanisms by which this interaction occurs remain unclear. The orphan nuclear receptor TLX (Nr2e1; homologue of the Drosophila tailless gene) is a key regulator of hippocampal neurogenesis, and we have shown that in its absence microglia exhibit a pro-inflammatory activation phenotype. However, it is unclear whether a disturbance in CX3CL1/CX3CR1 communication mediates an impairment in TLX-related pathways which may have subsequent effects on neurogenesis. To this end, we assessed miRNA expression of up- and down-stream signalling molecules of TLX in the hippocampus of mice lacking CX3CR1. Our results demonstrate that a lack of CX3CR1 is associated with altered expression of TLX and its downstream targets in the hippocampus without significantly affecting upstream regulators of TLX. Thus, TLX may be a potential participant in neural stem cell (NSC)-microglial cross-talk and may be an important target in understanding inflammatory-associated impairments in neurogenesis.
Twin studies of the covariation of pain with depression and anxiety: A systematic review and re-evaluation of critical needs.
Neuroscience and biobehavioral reviews, 2020

Pain often co-occurs with depression and anxiety, and together cause considerable social and economic burden. Twin studies have investigated the aetiology of these covariations. However, to our knowledge, no systematic review examining the covariation between these conditions has been conducted. We searched the Cochrane Database of Systematic Reviews, EMBASE, MEDLINE, and PsychInfo for twin studies examining the covariation between pain with depression and/or anxiety published from inception to May 16, 2019. Included studies reported: original data on twin samples using the classical twin or co-twin control designs; investigated the association between pain and depression and/or anxiety; were published in peer-reviewed journals; used validated measures; included ≥100 twin pairs. Of 359 retrieved articles, 23 met our inclusion criteria. Most studies found that the covariation of pain with depression and/or anxiety was explained by genetic (n = 6) or both genetic and environmental (n = 16) factors. Most studies were cross-sectional, and all were led in adult populations. Future research requires the use of more standardized measurement tools, including quantitative sensory testing as well as assess child-adolescent cohorts.
Adeno-associated viral vectors for mapping, monitoring, and manipulating neural circuits.
Human gene therapy, 2011

Understanding the structure and function of neural circuits is central is neuroscience research. To address the associated questions, new genetically encoded tools have been developed for mapping, monitoring, and manipulating neurons. Essential to implementation of these tools is their selective delivery to defined neuronal populations in the brain. This has been facilitated by recent improvements in cell type-specific transgene expression using recombinant adeno-associated viral vectors. Here, we highlight these developments and discuss areas for improvement that could further expand capabilities for neural circuit analysis.
Real-time fMRI neurofeedback in adolescents with attention deficit hyperactivity disorder.
Human brain mapping, 2017

Attention Deficit Hyperactivity Disorder (ADHD) is associated with poor self-control, underpinned by inferior fronto-striatal deficits. Real-time functional magnetic resonance neurofeedback (rtfMRI-NF) allows participants to gain self-control over dysregulated brain regions. Despite evidence for beneficial effects of electrophysiological-NF on ADHD symptoms, no study has applied the spatially superior rtfMRI-NF neurotherapy to ADHD. A randomized controlled trial tested the efficacy of rtfMRI-NF of right inferior prefrontal cortex (rIFG), a key region that is compromised in ADHD and upregulated with psychostimulants, on improvement of ADHD symptoms, cognition, and inhibitory fMRI activation. To control for region-specificity, an active control group received rtfMRI-NF of the left parahippocampal gyrus (lPHG). Thirty-one ADHD boys were randomly allocated and had to learn to upregulate their target brain region in an average of 11 rtfMRI-NF runs over 2 weeks. Feedback was provided through a video-clip of a rocket that had to be moved up into space. A transfer session without feedback tested learning retention as a proximal measure of transfer to everyday life. Both NF groups showed significant linear activation increases with increasing number of runs in their respective target regions and significant reduction in ADHD symptoms after neurotherapy and at 11-month follow-up. Only the group targeting rIFG, however, showed a transfer effect, which correlated with ADHD symptom reductions, improved at trend level in sustained attention, and showed increased IFG activation during an inhibitory fMRI task. This proof-of-concept study demonstrates for the first time feasibility, safety, and shorter- and longer-term efficacy of rtfMRI-NF of rIFG in adolescents with ADHD. Hum Brain Mapp 38:3190-3209, 2017. © 2017 The Authors Human Brain Mapping Published by Wiley Periodicals, Inc.
Microstructural organization of human insula is linked to its macrofunctional circuitry and predicts cognitive control.
eLife, 2020

The human insular cortex is a heterogeneous brain structure which plays an integrative role in guiding behavior. The cytoarchitectonic organization of the human insula has been investigated over the last century using postmortem brains but there has been little progress in noninvasive in vivo mapping of its microstructure and large-scale functional circuitry. Quantitative modeling of multi-shell diffusion MRI data from 413 participants revealed that human insula microstructure differs significantly across subdivisions that serve distinct cognitive and affective functions. Insular microstructural organization was mirrored in its functionally interconnected circuits with the anterior cingulate cortex that anchors the salience network, a system important for adaptive switching of cognitive control systems. Furthermore, insular microstructural features, confirmed in Macaca mulatta, were linked to behavior and predicted individual differences in cognitive control ability. Our findings open new possibilities for probing psychiatric and neurological disorders impacted by insular cortex dysfunction, including autism, schizophrenia, and fronto-temporal dementia.
Corticospinal neurons in macaque ventral premotor cortex with mirror properties: a potential mechanism for action suppression?
Neuron, 2009

The discovery of "mirror neurons" in area F5 of the ventral premotor cortex has prompted many theories as to their possible function. However, the identity of mirror neurons remains unknown. Here, we investigated whether identified pyramidal tract neurons (PTNs) in area F5 of two adult macaques exhibited "mirror-like" activity. About half of the 64 PTNs tested showed significant modulation of their activity while monkeys observed precision grip of an object carried out by an experimenter, with somewhat fewer showing modulation during precision grip without an object or grasping concealed from the monkey. Therefore, mirror-like activity can be transmitted directly to the spinal cord via PTNs. A novel finding is that many PTNs (17/64) showed complete suppression of discharge during action observation, while firing actively when the monkey grasped food rewards. We speculate that this suppression of PTN discharge might be involved in the inhibition of self-movement during action observation.