rudyvdbrink/CitationDatabase huggingface dataset:
Oligodendrocyte-specific deletion of Xbp1 exacerbates the endoplasmic reticulum stress response and restricts locomotor recovery after thoracic spinal cord injury.
Glia, 2021

The endoplasmic reticulum stress response (ERSR) is activated in various neurodegenerative diseases and/or after CNS traumatic injuries. The ERSR is comprised of three major arms, PERK, IRE-1, and activating transcription factor-6, with the latter two contributing to the unfolded protein response (UPR). PERK activity overlaps with the integrated stress response (ISR) kinases, PKR, HRI, and GCN2 which all signal through, eukaryotic initiation factor 2α, ATF4, and CHOP. All initially attempt to restore endoplasmic reticulum (ER) homeostasis, but if ER stress is unresolved, ATF4/CHOP-mediated cell death is initiated. Here, we investigate the contribution of the inositol-requiring protein-1α-X-box binding protein-1 (XBP1)-mediated UPR signaling pathway to the pathogenesis of spinal cord injury (SCI). We demonstrate that deletion of Xbp1 caused an exacerbated ATF4/CHOP signaling in cultured mouse oligodendrocyte (OL) progenitor cells and enhanced their sensitivity to ER stress. Similar effects were also observed with the Xbp1 pathway inhibitor toyocamycin. Furthermore, OL lineage-specific loss of Xbp1 resulted in enhanced ISR in mice that underwent moderate contusive SCI at the T9 level. Consistently, post-injury recovery of hindlimb locomotion and white matter sparing were reduced in OL Xbp1-deficient mice, which correlated with chronically decreased relative density of OPCs and OLs at the injury epicenter at 6 weeks post-SCI. We conclude that the IRE1-XBP1-mediated UPR signaling pathway contributes to restoration of ER homeostasis in OLs and is necessary for enhanced white matter sparing and functional recovery post-SCI.
Identification of genes involved in neuronal cell death and recovery over time in rat axotomy and neurorrhaphy models through RNA sequencing.
Molecular and cellular neurosciences, 2021

Facial nerves are frequently injured during cosmetic or other types of facial surgery. However, information on the genes involved in the damage and recovery of the facial nerves is limited. Here, we aimed to identify the genes affected by facial nerve injury and repair using next-generation sequencing. We established a rat axotomy model and a parallel epineurial neurorrhaphy model, in which gene expression was analyzed from 3 days to 8 weeks after surgery. We discovered that ARRB1, SGK1, and GSK3B genes associated with neuronal cell death were upregulated in the axotomy model. In contrast, MFRP, MDK, and ACE genes involved in neural recovery and regeneration exhibited higher expression in the neurorrhaphy model. In the present study, the analysis of the big data obtained from the next-generation sequencing (RNA-seq) technology reveals that the expression of genes involved in neuronal cell death is induced during nerve damage, and those associated with neural recovery are more abundantly expressed during repair processes. These results are considered to be useful for the establishment of the treatment of related diseases and basic research in various neuroscience fields by utilizing damage and recovery mechanism of facial nerves.
Magnetic resonance spectroscopy reveals mitochondrial dysfunction in amyotrophic lateral sclerosis.
Brain : a journal of neurology, 2020

Mitochondrial dysfunction is postulated to be central to amyotrophic lateral sclerosis (ALS) pathophysiology. Evidence comes primarily from disease models and conclusive data to support bioenergetic dysfunction in vivo in patients is currently lacking. This study is the first to assess mitochondrial dysfunction in brain and muscle in individuals living with ALS using 31P-magnetic resonance spectroscopy (MRS), the modality of choice to assess energy metabolism in vivo. We recruited 20 patients and 10 healthy age and gender-matched control subjects in this cross-sectional clinico-radiological study. 31P-MRS was acquired from cerebral motor regions and from tibialis anterior during rest and exercise. Bioenergetic parameter estimates were derived including: ATP, phosphocreatine, inorganic phosphate, adenosine diphosphate, Gibbs free energy of ATP hydrolysis (ΔGATP), phosphomonoesters, phosphodiesters, pH, free magnesium concentration, and muscle dynamic recovery constants. Linear regression was used to test for associations between brain data and clinical parameters (revised amyotrophic functional rating scale, slow vital capacity, and upper motor neuron score) and between muscle data and clinico-neurophysiological measures (motor unit number and size indices, force of contraction, and speed of walking). Evidence for primary dysfunction of mitochondrial oxidative phosphorylation was detected in the brainstem where ΔGATP and phosphocreatine were reduced. Alterations were also detected in skeletal muscle in patients where resting inorganic phosphate, pH, and phosphomonoesters were increased, whereas resting ΔGATP, magnesium, and dynamic phosphocreatine to inorganic phosphate recovery were decreased. Phosphocreatine in brainstem correlated with respiratory dysfunction and disability; in muscle, energy metabolites correlated with motor unit number index, muscle power, and speed of walking. This study provides in vivo evidence for bioenergetic dysfunction in ALS in brain and skeletal muscle, which appears clinically and electrophysiologically relevant. 31P-MRS represents a promising technique to assess the pathophysiology of mitochondrial function in vivo in ALS and a potential tool for future clinical trials targeting bioenergetic dysfunction.
A fast and reliable method for detecting SNP rs67384697 (Hsa-miR-148a binding site) by a single run of allele-specific real-time PCR.
HLA, 2020

Surface expression of human leukocyte antigen (HLA)-class I molecules is critical for modulating T/natural killer lymphocytes' effector functions. Among HLA molecules, HLA-C, the most recently evolved form of class I antigens, is subjected to both transcriptional and multiple post-transcriptional regulation mechanisms affecting its cell surface expression. Among the latter a region placed in the 3' untranslated region of HLA-C transcript contains the single nucleotide polymorphism (SNP) rs67384697 "G-ins/del" that has been found to be strictly associated with surface levels of HLA-C allomorphs because of the effect on the binding site of a microRNA (Hsa-miR-148a). Higher expression of HLA-C has been proved to influence HIV-1 infection via a better control of viremia and a slower disease progression. More importantly, the analysis of SNP rs67384697 "G-ins/del" combined with the evaluation of the HLA-Bw4/-Bw6 C1/C2 supratype, as well as the killer immunoglobulin-like receptor genetic asset, has proved to be pivotal in defining the status of Elite Controllers in the Caucasian population. Here we describe a new reliable and fast method of allele-specific real-time PCR to monitor the integrity/disruption of the binding site of the microRNA Hsa-miR-148a in a high-throughput format that can be easily applied to studies involving large cohorts of individuals.
Spatio-temporal parameters of ataxia gait dataset obtained with the Kinect.
Data in brief, 2020

Ataxic syndromes include several rare, inherited and acquired conditions. One of the main issues is the absence of specific, and sensitive automatic evaluation tools and digital outcome measures to obtain a continuous monitoring of subjects' motor ability. Gait evaluation was performed by Kinect v2 in a cohort of young participant affected by ataxia syndrome. The dataset is composed of the spatio-temporal parameters calculated by the skeleton acquired by the Kinect sensor, by the diagnosis of each participant, and by the total score of the clinical scale SARA. These parameters have been previously validated and corrected as requested by the Bland-Altman test.
A national healthcare response to intensive care bed requirements during the COVID-19 outbreak in France.
Anaesthesia, critical care & pain medicine, 2020

Whereas 5415 Intensive Care Unit (ICU) beds were initially available, 7148 COVID-19 patients were hospitalised in the ICU at the peak of the outbreak. The present study reports how the French Health Care system created temporary ICU beds to avoid being overwhelmed.
An ALS case with a novel D90N-SOD1 heterozygous missense mutation.
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 2012

Abstract Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease. We describe the case of a patient with a rapidly progressive form of ALS characterized by both upper and lower motor neuron impairment, no early bulbar signs and severe pain in all four extremities. The patient had a heterozygous c.271G > A mutation in SOD1, leading to an amino acids substitution of asparagine to aspartate at position 90 of the protein chain (p.D90N). Our report confirms that ALS patients with D90 codon heterozygous mutations may be associated with rapid progression and a prominent pain syndrome.
Physical activity and health in Chinese children and adolescents: expert consensus statement (2020).
British journal of sports medicine, 2020

China is experiencing significant public health challenges related to social and demographic transitions and lifestyle transformations following unprecedented economic reforms four decades ago. Of particular public health concern is the fourfold increase in overweight and obesity rates in the nation's youth population, coupled with the low prevalence of adolescents meeting recommended levels of physical activity. Improving the overall health of China's more than 170 million children and adolescents has become a national priority. However, advancing nationwide health initiatives and physical activity promotion in this population has been hampered by the lack of a population-specific and culturally relevant consensus on recommendations for achieving these ends. To address this deficiency and inform policies to achieve
In vivo measurement of afferent activity with axon-specific calcium imaging.
Nature neuroscience, 2018

In vivo calcium imaging from axons provides direct interrogation of afferent neural activity, informing the neural representations that a local circuit receives. Unlike in somata and dendrites, axonal recording of neural activity-both electrically and optically-has been difficult to achieve, thus preventing comprehensive understanding of neuronal circuit function. Here we developed an active transportation strategy to enrich GCaMP6, a genetically encoded calcium indicator, uniformly in axons with sufficient brightness, signal-to-noise ratio, and photostability to allow robust, structure-specific imaging of presynaptic activity in awake mice. Axon-targeted GCaMP6 enables frame-to-frame correlation for motion correction in axons and permits subcellular-resolution recording of axonal activity in previously inaccessible deep-brain areas. We used axon-targeted GCaMP6 to record layer-specific local afferents without contamination from somata or from intermingled dendrites in the cortex. We expect that axon-targeted GCaMP6 will facilitate new applications in investigating afferent signals relayed by genetically defined neuronal populations within and across specific brain regions.
Editorial overview: Neurobiology of cognitive behavior: Complexity of neural computation and cognition.
Current opinion in neurobiology, 2016

We live in an age when our phones incorporate real-time updates on traffic and subway delays to help us navigate complex urban environments, vacuum cleaning robots map the layout of our apartments to optimize their cleaning strategies, and cars are beginning to drive themselves. But, amazing though today’s artificial cognition systems may seem, the genuine mystery is the flexibility and adaptability with which their precursors and creators, brains, acquire and use knowledge. For at least two centuries, psychologists and cognitive scientists have studied human and animal behavior in an effort to better understand the faculties that support natural cognition: working memory, attention, multisensory integration, value-based decision-making, and analogical reasoning. They have helped organize our thinking about the likely algorithms the brain must use, and suggested central brain regions that are likely involved in executing them. Thus, it may seem like the stage is set for neurophysiologists to work out neural mechanisms underlying cognitive processes. However, despite tremendous progress over the past half century in understanding peripheral sensory and motor systems, the sheer complexity of central brain circuits has meant that cognition has retained most of its veils. For this issue, we asked contributors to define the experimental and theoretical challenges that cognition poses to neuroscience researchers, and to offer suggestions for how the field might productively tackle the complexity that comes with working on this frontier.
Anxiety, Depression, and Quality of Life: A Long-Term Follow-Up Study of Patients with Persisting Concussion Symptoms.
Journal of neurotrauma, 2021

Persisting concussion symptoms (PCS) can last for months, years, or indefinitely and affect a considerable number of concussion patients. The objectives of this study were to evaluate the prevalence of clinical symptoms of anxiety and depression and the relationship between PCS and quality of life in patients examined at the Canadian Concussion Centre. The Depression and Anxiety Stress Scale-42 (DASS-42) and the World Health Organization Quality of Life Assessment-BREF (WHOQOL-BREF) were sent to 526 adult patients diagnosed with PCS. Median with interquartile range follow-up time was 5 (4-7) years. Of the 105 respondents, 35.2% displayed mild or greater symptoms of anxiety, depression, or both. Importantly, the number of previous concussions was correlated with elevations on the DASS-42 Anxiety (
Differing effects of inotropic agents on length change deactivation of isolated rat myocardium.
Journal of investigative medicine : the official publication of the American Federation for Clinical Research, 2002

A rapid change in length of cardiac muscle during isometric contraction is followed by developed force that is less than appropriate for the new length because of deactivation of the contractile system. Length change deactivation may have favorable or unfavorable effects on cardiac function, depending on the circumstances under which it is produced.
Organized Resting-state Functional Dysconnectivity of the Prefrontal Cortex in Patients with Schizophrenia.
Neuroscience, 2020

Schizophrenia has prominent functional dysconnectivity, especially in the prefrontal cortex (PFC). However, it is unclear whether in the same group of patients with schizophrenia, PFC functional dysconnectivity appears in an organized manner or is stochastically located in different subregions. By investigating the resting-state functional connectivity (rsFC) of each PFC subregion from the Brainnetome atlas in 40 schizophrenia patients and 40 healthy subjects, we found 24 altered connections in schizophrenia, and the connections were divided into four categories by a clustering analysis: increased connections within the PFC, increased connections between the inferior PFC and the thalamus/striatum, reduced connections between the PFC and the motor control areas, and reduced connections between the orbital PFC and the emotional perception regions. In addition, the four categories of rsFC showed distinct cognitive engagement patterns. Our findings suggest that PFC subregions have specific functional dysconnectivity patterns in schizophrenia and may reflect heterogeneous symptoms and cognitive deficits in schizophrenia.
Summaries of plenary, symposia, and oral sessions at the XXII World Congress of Psychiatric Genetics, Copenhagen, Denmark, 12-16 October 2014.
Psychiatric genetics, 2016

The XXII World Congress of Psychiatric Genetics, sponsored by the International Society of Psychiatric Genetics, took place in Copenhagen, Denmark, on 12-16 October 2014. A total of 883 participants gathered to discuss the latest findings in the field. The following report was written by student and postdoctoral attendees. Each was assigned one or more sessions as a rapporteur. This manuscript represents topics covered in most, but not all of the oral presentations during the conference, and contains some of the major notable new findings reported.
Promise and challenges of dystonia brain banking: establishing a human tissue repository for studies of X-Linked Dystonia-Parkinsonism.
Journal of neural transmission (Vienna, Austria : 1996), 2021

X-Linked Dystonia-Parkinsonism (XDP) is a neurodegenerative disease affecting individuals with ancestry to the island of Panay in the Philippines. In recent years there has been considerable progress at elucidating the genetic basis of XDP and candidate disease mechanisms in patient-derived cellular models, but the neural substrates that give rise to XDP in vivo are still poorly understood. Previous studies of limited XDP postmortem brain samples have reported a selective dropout of medium spiny neurons within the striatum, although neuroimaging of XDP patients has detected additional abnormalities in multiple brain regions beyond the basal ganglia. Given the need to fully define the CNS structures that are affected in this disease, we created a brain bank in Panay to serve as a tissue resource for detailed studies of XDP-related neuropathology. Here we describe this platform, from donor recruitment and consent to tissue collection, processing, and storage, that was assembled within a predominantly rural region of the Philippines with limited access to medical and laboratory facilities. Thirty-six brains from XDP individuals have been collected over an initial 4 years period. Tissue quality was assessed based on histologic staining of cortex, RNA integrity scores, detection of neuronal transcripts in situ by fluorescent hybridization chain reaction, and western blotting of neuronal and glial proteins. The results indicate that this pipeline preserves tissue integrity to an extent compatible with a range of morphologic, molecular, and biochemical analyses. Thus the algorithms that we developed for working in rural communities may serve as a guide for establishing similar brain banks for other rare diseases in indigenous populations.
Effects of the GluN2B antagonist, Ro 25-6981, on extinction consolidation following adolescent- or adult-onset methamphetamine self-administration in male and female rats.
Behavioural pharmacology, 2020

Previous work suggests adolescent rats have deficient extinction consolidation relative to adults. Although the mechanisms underlying this age difference are currently unknown, studies in adult rats have implicated GluN2B-containing N-methyl-d-aspartate (NMDA) receptor function in extinction consolidation of drug-associated memory. Importantly, GluN2B neurotransmission emerges during adolescent development, and drugs of abuse during adolescence may delay the development of extinction consolidation by disrupting the ontogeny of GluN2B function. Here, we trained Sprague-Dawley rats of both sexes to self-administer methamphetamine [METH, 0.1 mg/kg/infusion intravenous (i.v.)] beginning during adolescence [postnatal (P) day 41] or adulthood (P91). Rats were given short access (2 h) to self-administer METH in seven daily sessions followed by 14 sessions with long access (6 h). Subsequently, rats underwent four daily 30-minute extinction sessions with immediate postsession injections of either a GluN2B antagonist [Ro25-6981; 6 mg/kg, intraperitoneal (i.p.)] or a vehicle solution. After four daily 2-h extinction sessions, a priming injection (1 mg/kg METH, i.p.) was given prior to a final 2-h reinstatement session. During LgA, adolescent-onset rats earn more METH than adult-onset rats and display greater drug-loading behavior. Rats reduced their drug-seeking behavior across the extinction sessions, with no significant group differences. Rats reinstated drug-seeking following the METH-priming injection, with females displaying greater reinstatement than males. These results do not support our a priori hypothesis that adolescent-onset METH use disrupts the ontogeny of GluN2B transmission and contributes to age-of-onset differences in extinction of METH-seeking. However, our findings suggest that age-of-onset contributes to excessive METH-taking, while sex confers vulnerability to relapse to METH-seeking.
A case report of a male patient receiving treatment for anorexia nervosa and comorbid obsessive compulsive disorder who was later diagnosed with nontuberculosis Mycobacterium.
Eating and weight disorders : EWD, 2021

Cases of nontuberculous Mycobacterium (NTM) are on the rise across North America. This is the first clinical description of a 31-year old male patient in North America with Mycobacterium kansasii who met DSM-5 diagnostic criteria for anorexia nervosa (AN) and obsessive compulsive disorder (OCD), and who was engaged in specialized outpatient treatment of an eating disorder. The patient did not disclose at intake assessment that he was experiencing symptoms of a persistent cough, blood in his sputum, or that he was simultaneously being assessed outside of the eating disorders program for NTM until he had a positive smear for Mycobacterium kansasii in March 2017. The patient made progress in treatment in his weight status and some psychological symptoms despite the concurrent NTM symptoms. However, later treatment attendance was negatively impacted by the side effects of his medication regime for NTM and careful follow-up was required to monitor for potential interactions between his treatment for NTM and psychiatric medication. This case report provides an initial window into clinicians' ability to treat a patient with a concurrent eating disorder and an NTM infection and lessons learned in the process. LEVEL OF EVIDENCE: Level V: Opinions of respected authorities, based on descriptive studies, clinical experience, or reports of expert committees.
Impact of prolonged sepsis on neural and muscular components of muscle contractions in a mouse model.
Journal of cachexia, sarcopenia and muscle, 2021

Prolonged critically ill patients frequently develop debilitating muscle weakness that can affect both peripheral nerves and skeletal muscle. In-depth knowledge on the temporal contribution of neural and muscular components to muscle weakness is currently incomplete.
Spontaneous systolic blood pressure drop early after mechanical thrombectomy predicts dramatic neurological recovery in ischaemic stroke patients.
European stroke journal, 2020

Spontaneous blood pressure drop within the first 24 h has been reported following arterial recanalisation in ischaemic stroke patients. We aimed to assess if spontaneous blood pressure drop within the first hour after mechanical thrombectomy is a marker of early neurological recovery.
Sir Charles Bell (1774-1842) and his contributions to early neurosurgery.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2012

The renowned surgeon, neuroanatomist, and artist Sir Charles Bell not only impacted the lives of his peers through his creative endeavors and passion for art, but also sparked noteworthy breakthroughs in the field of neuroscience. His empathetic nature and zest for life enabled him to develop an early proclivity for patient care. As a result of his innovative findings regarding sensory and motor nerves and the anatomical makeup of the brain, he accepted some of the most prestigious awards and received an honorable reputation in society. Bell is recognized for his diligence, perseverance, and his remarkable contributions to surgery. The present review will explore his contributions to the discipline now known as neurosurgery.