rudyvdbrink/CitationDatabase huggingface dataset:
Autoantibodies in Japanese patients with ocular myasthenia gravis.
Muscle & nerve, 2021

The majority of patients with myasthenia gravis (MG) initially present with ocular symptoms, but it is difficult to predict which cases will remain as ocular MG (OMG) or will progress to generalized MG. Herein we evaluated the serologic profile of Japanese OMG and its relationship with clinical features.
SNF2 histone linker PHD RING helicase related Has_circ_0001649 as a diagnostic and prognostic biomarker in solid cancer: A PRISMA-compliant meta-analysis based on the Chinese population.
Medicine, 2019

Dysregulated circular RNAs have been implicated in the pathogenesis of cancer. Recent studies indicate that has_circ_0001649 lowly expressed in multiple types of cancer. The purpose of this study is to investigate the roles of has_circ_0001649 as a diagnostic and prognostic marker for Chinese patients with cancer.
Longitudinal evaluation of visual P300 amplitude in clinical high-risk subjects: An event-related potential study.
Psychiatry and clinical neurosciences, 2020

We previously reported abnormal P300 and N200 in a visual oddball task, and progressive P300 amplitude reduction at 1-year follow-up in patients with first-episode schizophrenia. P300 reduction as well as intact P1/N1 were also observed in clinical high-risk subjects (CHR), but whether or not these components change over time is unknown. This study evaluates, longitudinally, the visual P300, as well as P1, N1, and N200, in CHR.
Dynamic indentation reveals differential viscoelastic properties of white matter versus gray matter-derived astrocytes upon treatment with lipopolysaccharide.
Journal of the mechanical behavior of biomedical materials, 2020

Astrocytes in white matter (WM) and gray matter (GM) brain regions have been reported to have different morphology and function. Previous single cell biomechanical studies have not differentiated between WM- and GM-derived samples. In this study, we explored the local viscoelastic properties of isolated astrocytes and show that astrocytes from rat brain WM-enriched areas are ~1.8 times softer than astrocytes from GM-enriched areas. Upon treatment with pro-inflammatory lipopolysaccharide, GM-derived astrocytes become significantly softer in the nuclear and the cytoplasmic regions, where the F-actin network appears rearranged, whereas WM-derived astrocytes preserve their initial mechanical features and show no alteration in the F-actin cytoskeletal network. We hypothesize that the flexibility in biomechanical properties of GM-derived astrocytes may contribute to promote regeneration of the brain under neuroinflammatory conditions.
Necroptosis is SARMful to your health.
The Journal of cell biology, 2020

Necroptosis is a cell death pathway involved in inflammation and disease. In this issue, Ko et al. (2020. J. Cell Biol.https://doi.org/10.1083/jcb.201912047) link SARM1, the executioner of Wallerian degeneration of axons, to necroptosis, revealing a unique form of axonal disassembly likely involved in neurodegenerative disorders.
Effect of central muscarinic receptors on passive-avoidance learning deficits induced by prenatal pentylenetetrazol kindling in male offspring.
Neuroscience, 2014

Occurrence of the epileptic seizures during gestation might affect the neurodevelopment of the fetus resulting in cognitive problems for the child later in life. We have previously reported that prenatal pentylenetetrazol (PTZ)-kindling induces learning and memory deficits in the children born to kindled mothers, later in life but the mechanisms involved in this processes are unknown. The cholinergic system plays a major role in learning and memory. The present study was performed to investigate the possible involvement of central muscarinic cholinergic receptors on learning and memory deficits induced by prenatal PTZ-kindling in male offspring. Pregnant Wistar rats were kindled by repetitive i.p. injection of 25mg/kg of PTZ on day 13 of their pregnancy. The effect of intracerebroventricular (ICV) microinjection of scopolamine and pilocarpine, muscarinic cholinergic receptors antagonist and agonist, respectively on passive-avoidance learning of pups were tested at 12weeks of age using shuttle-box apparatus. Our data showed that the retention latencies of pups that received scopolamine (2 or 3μg) were significantly reduced compared to those received normal saline (p<0.05). Interestingly, post training ICV administration of pilocarpine (2μg) retrieved pups' memory deficits (p<0.001). These results demonstrate for the first time, the importance of the central muscarinic cholinergic receptors in learning and memory deficits in pups born to kindled dams and suggest a central mechanism for the cognitive and memory dysfunction, associated with seizures during pregnancy.
Potential microbial origins of schizophrenia and their treatments.
Drugs of today (Barcelona, Spain : 1998), 2009

Schizophrenia is a severe brain disease that affects approximately 1% of the world's population. Extensive study into the indication of and causes of this disease has been ongoing for decades. Historical review of research into associated abnormalities and markers common in schizophrenic patients has demonstrated a correlation with potential microbial origins in the development of the disease. While infectious etiologies could be responsible for some cases of schizophrenia, no consistent use of anti-infective agents has been developed for its prevention or treatment. Elucidation of the mechanisms for infectious roots of schizophrenia may open new avenues for effective treatment.
Safety, Efficacy, and Feasibility of Intranasal Insulin for the Treatment of Mild Cognitive Impairment and Alzheimer Disease Dementia: A Randomized Clinical Trial.
JAMA neurology, 2020

Insulin modulates aspects of brain function relevant to Alzheimer disease and can be delivered to the brain using intranasal devices. To date, the use of intranasal insulin to treat persons with mild cognitive impairment and Alzheimer's disease dementia remains to be examined in a multi-site trial.
Motor neuroprosthesis implanted with neurointerventional surgery improves capacity for activities of daily living tasks in severe paralysis: first in-human experience.
Journal of neurointerventional surgery, 2021

Implantable brain-computer interfaces (BCIs), functioning as motor neuroprostheses, have the potential to restore voluntary motor impulses to control digital devices and improve functional independence in patients with severe paralysis due to brain, spinal cord, peripheral nerve or muscle dysfunction. However, reports to date have had limited clinical translation.
Pediatric choroid plexus papilloma arising from the cerebellopontine angle: systematic review with illustrative case.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2021

Choroid plexus tumors are uncommon intraventricular tumors that develop from the choroid plexus of the central nervous system. Choroid plexus papillomas arising from the cerebellopontine angle have been reported to almost exclusively occur in adults and are rarely found in children.
Comparison between surface electrodes and ultrasound monitoring to measure TMS evoked muscle contraction.
Muscle & nerve, 2021

Transcranial magnetic stimulation (TMS) is widely used to explore cortical physiology in health and disease. Surface electromyography (sEMG) is appropriate for superficial muscles, but cannot be applied easily to less accessible muscles. Muscle ultrasound (mUS) may provide an elegant solution to this problem, but fundamental questions remain. We explore the relationship between TMS evoked muscle potentials and TMS evoked muscle contractions measured with mUS.
Neural sensitivity to risk in adults with co-occurring HIV infection and cocaine use disorder.
Cognitive, affective & behavioral neuroscience, 2020

Persons with co-occurring HIV infection and cocaine use disorder tend to engage in riskier decision-making. However, the neural correlates of sensitivity to risk are not well-characterized in this population. The purpose of this study was to examine the neural interaction effects of HIV infection and cocaine use disorder to sensitivity to risk. The sample included 79 adults who differed on HIV status and cocaine use disorder. During functional magnetic resonance imaging (fMRI), participants completed a Wheel of Fortune (WoF) task that assessed neural activation in response to variations of monetary risk (i.e., lower probability of winning a larger reward). Across groups, neural activation to increasing risk was in cortical and subcortical regions similar to previous investigations using the WoF in nondrug-using populations. Our analyses showed that there was a synergistic effect between HIV infection and cocaine use in the left precuneus/posterior cingulate cortex and hippocampus, and right postcentral gyrus, lateral occipital cortex, cerebellum, and posterior parietal cortex. HIV+ individuals with cocaine use disorder displayed neural hyperactivation to increasing risk that was not observed in the other groups. These results support a synergistic effect of co-occurring HIV infection and cocaine dependence in neural processing of risk probability that may reflect compensation. Future studies can further investigate and validate how neural activation to increasing risk is associated with risk-taking behavior.
Genotype-dependence of gabapentin and pregabalin sensitivity: the pharmacogenetic mediation of analgesia is specific to the type of pain being inhibited.
Pain, 2003

The antiepileptic drug, gabapentin, and another structurally related compound, pregabalin, are increasingly employed in the pharmacotherapy of chronic pain states, although their primary mechanism of action remains a topic of active study. A genomic approach to the study of these drugs may elucidate their potentially novel mechanisms. We examined the heritability of sensitivity to analgesia from gabapentin and pregabalin as a precursor to linkage mapping efforts. Accordingly, 11 inbred mouse strains were tested for inhibition of nociception by gabapentin or pregabalin (50-300 mg/kg, i.p.) in two different preclinical assays of inflammatory pain, the formalin test (5% formalin; 20 microl) and zymosan thermal hyperalgesia on the paw-withdrawal test (3 mg/ml zymosan; 20 microl). Significant strain-dependence of drug action was noted in each case, indicating that sensitivity to these analgesics is heritable. Furthermore, the pattern of strain sensitivities to gabapentin and pregabalin were mostly similar, supporting the notion that they act via similar genetic and physiological mechanisms. However, there was virtually no correlation between strain sensitivities to pregabalin inhibition of formalin nociception and zymosan thermal hyperalgesia. In light of previous data from our laboratory and others regarding morphine analgesia, we now establish and empirically demonstrate the general principle that pharmacogenetic mechanisms underlying analgesic sensitivity are specific to the type of pain being inhibited. This has considerable implications for ongoing pharmacogenetic investigations and, more generally, for the choices of preclinical models of pain used in drug development.
Neurologic disorders associated with weight lifting and bodybuilding.
Neurologic clinics, 2008

Weight lifting and other forms of strength training are becoming more common because of an increased awareness of the need to maintain individual physical fitness. Emergency room data indicate that injuries caused by weight training have become more universal over time, likely because of increased participation rates. Neurologic injuries can result from weight lifting and related practices. Although predominantly peripheral nervous system injuries have been described, central nervous system disease may also occur. This article illustrates the types of neurologic disorders associated with weight lifting.
Mutations associated with neuropsychiatric conditions delineate functional brain connectivity dimensions contributing to autism and schizophrenia.
Nature communications, 2020

16p11.2 and 22q11.2 Copy Number Variants (CNVs) confer high risk for Autism Spectrum Disorder (ASD), schizophrenia (SZ), and Attention-Deficit-Hyperactivity-Disorder (ADHD), but their impact on functional connectivity (FC) remains unclear. Here we report an analysis of resting-state FC using magnetic resonance imaging data from 101 CNV carriers, 755 individuals with idiopathic ASD, SZ, or ADHD and 1,072 controls. We characterize CNV FC-signatures and use them to identify dimensions contributing to complex idiopathic conditions. CNVs have large mirror effects on FC at the global and regional level. Thalamus, somatomotor, and posterior insula regions play a critical role in dysconnectivity shared across deletions, duplications, idiopathic ASD, SZ but not ADHD. Individuals with higher similarity to deletion FC-signatures exhibit worse cognitive and behavioral symptoms. Deletion similarities identified at the connectivity level could be related to the redundant associations observed genome-wide between gene expression spatial patterns and FC-signatures. Results may explain why many CNVs affect a similar range of neuropsychiatric symptoms.
Semi-Automatic MRI Muscle Volumetry to Diagnose and Monitor Hereditary and Acquired Polyneuropathies.
Brain sciences, 2021

With emerging treatment approaches, it is crucial to correctly diagnose and monitor hereditary and acquired polyneuropathies. This study aimed to assess the validity and accuracy of magnet resonance imaging (MRI)-based muscle volumetry.Using semi-automatic segmentations of upper- and lower leg muscles based on whole-body MRI and axial T1-weighted turbo spin-echo sequences, we compared and correlated muscle volumes, and clinical and neurophysiological parameters in demyelinating Charcot-Marie-Tooth disease (CMT) (
The preclinical discovery and development of agomelatine for the treatment of depression.
Expert opinion on drug discovery, 2020

Under the treatment of commonly used antidepressants, many patients with major depressive disorder (MDD) do not achieve remission. All previous first-line treatments for depression have focused on the enhancement of monoaminergic activity. Agomelatine was the first antidepressant with a mechanism of action extending beyond monoaminergic neurotransmission.
Sex-specific aspects of epidemiology, molecular genetics and outcome: primary brain tumours.
ESMO open, 2020

Recent years have seen a great interest in sex-specific aspects of many diseases, including cancer, in part because of the assumption that females have often not been adequately represented in early drug development and determination of safety, tolerability and efficacy in clinical trials. Brain tumours represent a highly heterogeneous group of neoplastic diseases with strong variation of incidence by age, but partly also by sex. Most gliomas are more common in men whereas meningiomas, the most common primary intracranial tumours, are more common in females. Potential sex-specific genetic risk factors and specific sex biology have been reported in a tumour-specific manner. Several small studies have indicated differences in tolerability and safety of, as well as benefit from, treatment by sex, but no conclusive data have been generated. Exploring sex-specific aspects of neuro-oncology should be studied more systematically and in more depth in order to uncover the biological reasons for known sex differences in this disease.
Collective almost synchronization-based model to extract and predict features of EEG signals.
Scientific reports, 2020

Understanding the brain is important in the fields of science, medicine, and engineering. A promising approach to better understand the brain is through computing models. These models were adjusted to reproduce data collected from the brain. One of the most commonly used types of data in neuroscience comes from electroencephalography (EEG), which records the tiny voltages generated when neurons in the brain are activated. In this study, we propose a model based on complex networks of weakly connected dynamical systems (Hindmarsh-Rose neurons or Kuramoto oscillators), set to operate in a dynamic regime recognized as Collective Almost Synchronization (CAS). Our model not only successfully reproduces EEG data from both healthy and epileptic EEG signals, but it also predicts EEG features, the Hurst exponent, and the power spectrum. The proposed model is able to forecast EEG signals 5.76 s in the future. The average forecasting error was 9.22%. The random Kuramoto model produced the outstanding result for forecasting seizure EEG with an error of 11.21%.
Somato-dendritic morphology and dendritic signal transfer properties differentiate between fore- and hindlimb innervating motoneurons in the frog Rana esculenta.
BMC neuroscience, 2012

The location specific motor pattern generation properties of the spinal cord along its rostro-caudal axis have been demonstrated. However, it is still unclear that these differences are due to the different spinal interneuronal networks underlying locomotions or there are also segmental differences in motoneurons innervating different limbs. Frogs use their fore- and hindlimbs differently during jumping and swimming. Therefore we hypothesized that limb innervating motoneurons, located in the cervical and lumbar spinal cord, are different in their morphology and dendritic signal transfer properties. The test of this hypothesis what we report here.
Expression of the core promoter factors TATA box binding protein and TATA box binding protein-related factor 2 in Drosophila germ cells and their distinct functions in germline development.
Development, growth & differentiation, 2020

In Drosophila, the expression of germline genes is initiated in primordial germ cells (PGCs) and is known to be associated with germline establishment. However, the transcriptional regulation of germline genes remains elusive. Previously, we found that the BTB/POZ-Zn-finger protein, Mamo, is necessary for the expression of the germline gene, vasa, in PGCs. Moreover, truncated Mamo lacking the BTB/POZ domain (MamoAF) is a potent vasa activator. In this study, we investigated the genetic interaction between MamoAF and specific transcriptional regulators to gain insight into the transcriptional regulation of germline development. We identified a general transcription factor, TATA box binding protein (TBP)-associated factor 3 (TAF3/BIP2), and a member of the TBP-like proteins, TBP-related factor 2 (TRF2), as new genetic modifiers of MamoAF. In contrast to TRF2, TBP was found to show no genetic interaction with MamoAF, suggesting that Trf2 has a selective function. Therefore, we focused on Trf2 expression and investigated its function in germ cells. We found that Trf2 mRNA, rather than Tbp mRNA, was preferentially expressed in PGCs during embryogenesis. Depletion of TRF2 in PGCs resulted in decreased mRNA expression of vasa. RNA interference-mediated knockdown showed that, while Trf2 is required for maintenance of germ cells, Tbp is needed for their differentiation during oogenesis. Therefore, these results suggest that Trf2 and Tbp expression is differentially regulated in germ cells and that these factors have distinct functions in Drosophila germline development.
CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations.
Acta neuropathologica communications, 2020

Oculopharyngodistal myopathy (OPDM) is a rare hereditary muscle disease characterized by progressive distal limb weakness, ptosis, ophthalmoplegia, bulbar muscle weakness and rimmed vacuoles on muscle biopsy. Recently, CGG repeat expansions in the noncoding regions of two genes, LRP12 and GIPC1, have been reported to be causative for OPDM. Furthermore, neuronal intranuclear inclusion disease (NIID) has been recently reported to be caused by CGG repeat expansions in NOTCH2NLC. We aimed to identify and to clinicopathologically characterize patients with OPDM who have CGG repeat expansions in NOTCH2NLC (OPDM_NOTCH2NLC). Note that 211 patients from 201 families, who were clinically or clinicopathologically diagnosed with OPDM or oculopharyngeal muscular dystrophy, were screened for CGG expansions in NOTCH2NLC by repeat primed-PCR. Clinical information and muscle pathology slides of identified patients with OPDM_NOTCH2NLC were re-reviewed. Intra-myonuclear inclusions were evaluated using immunohistochemistry and electron microscopy (EM). Seven Japanese OPDM patients had CGG repeat expansions in NOTCH2NLC. All seven patients clinically demonstrated ptosis, ophthalmoplegia, dysarthria and muscle weakness; they myopathologically had intra-myonuclear inclusions stained with anti-poly-ubiquitinated proteins, anti-SUMO1 and anti-p62 antibodies, which were diagnostic of NIID (typically on skin biopsy), in addition to rimmed vacuoles. The sample for EM was available only from one patient, which demonstrated intranuclear inclusions of 12.6 ± 1.6 nm in diameter. We identified seven patients with OPDM_NOTCH2NLC. Our patients had various additional central and/or peripheral nervous system involvement, although all were clinicopathologically compatible; thus, they were diagnosed as having OPDM and expanding a phenotype of the neuromyodegenerative disease caused by CGG repeat expansions in NOTCH2NLC.
The comparative performance of DBS artefact rejection methods for MEG recordings.
NeuroImage, 2020

Deep brain stimulation (DBS) can be a very efficient treatment option for movement disorders and psychiatric diseases. To better understand DBS mechanisms, brain activity can be recorded using magnetoencephalography (MEG) with the stimulator turned on. However, DBS produces large artefacts compromising MEG data quality due to both the applied current and the movement of wires connecting the stimulator with the electrode. To filter out these artefacts, several methods to suppress the DBS artefact have been proposed in the literature. A comparative study evaluating each method's effectiveness, however, is missing so far. In this study, we evaluate the performance of four artefact rejection methods on MEG data from phantom recordings with DBS acquired with an Elekta Neuromag and a CTF system: (i) Hampel-filter, (ii) spectral signal space projection (S3P), (iii) independent component analysis with mutual information (ICA-MI), and (iv) temporal signal space separation (tSSS). In the sensor space, the largest increase in signal-to-noise (SNR) ratio was achieved by ICA-MI, while the best correspondence in terms of source activations was obtained by tSSS. LCMV beamforming alone was not sufficient to suppress the DBS-induced artefacts.