rudyvdbrink/CitationDatabase huggingface dataset:
Morphological alterations in the hippocampus of the Ts65Dn mouse model for Down Syndrome correlate with structural plasticity markers.
Histology and histopathology, 2018

Down syndrome (DS) is the most common chromosomal aneuploidy. Although trisomy on chromosome 21 can display variable phenotypes, there is a common feature among all DS individuals: the presence of intellectual disability. This condition is partially attributed to abnormalities found in the hippocampus of individuals with DS and in the murine model for DS, Ts65Dn. To check if all hippocampal areas were equally affected in 4-5 month adult Ts65Dn mice, we analysed the morphology of dentate gyrus granule cells and cornu ammonis pyramidal neurons using Sholl method on Golgi-Cox impregnated neurons. Structural plasticity has been analysed using immunohistochemistry for plasticity molecules followed by densitometric analysis (Brain Derived Neurotrophic Factor (BDNF), Polysialylated form of the Neural Cell Adhesion Molecule (PSA-NCAM) and the Growth Associated Protein 43 (GAP43)). We observed an impairment in the dendritic arborisation of granule cells, but not in the pyramidal neurons in the Ts65Dn mice. When we analysed the expression of molecules related to structural plasticity in trisomic mouse hippocampus, we observed a reduction in the expression of BDNF and PSA-NCAM, and an increment in the expression of GAP43. These alterations were restricted to the regions related to dentate granule cells suggesting an interrelation. Therefore the impairment in dendritic arborisation and molecular plasticity is not a general feature of all Down syndrome principal neurons. Pharmacological manipulations of the levels of plasticity molecules could provide a way to restore granule cell morphology and function.
Insomnia and menopause: a narrative review on mechanisms and treatments.
Climacteric : the journal of the International Menopause Society, 2020

The menopausal transition is associated with an increased frequency of sleep disturbances. Insomnia represents one of the most reported symptoms by menopausal women. According to its pathogenetic model (3-P Model), different predisposing factors (i.e. a persistent condition of past insomnia and aging per se) increase the risk of insomnia during menopause. Moreover, multiple precipitating and perpetuating factors should favor its occurrence across menopause, including hormonal changes, menopausal transition stage symptoms (i.e. hot flashes, night sweats), mood disorders, poor health and pain, other sleep disorders and circadian modifications. Thus, insomnia management implies a careful evaluation of the psychological and somatic symptoms of the individual menopausal woman by a multidisciplinary team. Therapeutic strategies encompass different drugs but also behavioral interventions. Indeed, cognitive behavioral therapy represents the first-line treatment of insomnia in the general population, regardless of the presence of mood disorders and/or vasomotor symptoms (VMS). Different antidepressants seem to improve sleep disturbances. However, when VMS are present, menopausal hormone therapy should be considered in the treatment of related insomnia taking into account the risk-benefit profile. Finally, given its good tolerability, safety, and efficacy on multiple sleep and daytime parameters, prolonged-released melatonin should represent a first-line drug in women aged ≥ 55 years.
Neuroprotective function of microglia in the developing brain.
Neuronal signaling, 2021

Microglia are the resident immune cells of the central nervous system and are important for immune processes. Besides their classical roles in pathological conditions, these cells also dynamically interact with neurons and influence their structure and function in physiological conditions. Recent evidence revealed their role in healthy brain homeostasis, including the regulation of neurogenesis, cell survival, and synapse maturation and elimination, especially in the developing brain. In this review, we summarize the current state of knowledge on microglia in brain development, with a focus on their neuroprotective function. We will also discuss how microglial dysfunction may lead to the impairment of brain function, thereby contributing to disease development.
Sequence Variants in TAAR5 and Other Loci Affect Human Odor Perception and Naming.
Current biology : CB, 2020

Olfactory receptor (OR) genes in humans form a special class characterized by unusually high DNA sequence diversity, which should give rise to differences in perception and behavior. In the largest genome-wide association study to date based on olfactory testing, we investigated odor perception and naming with smell tasks performed by 9,122 Icelanders, with replication in a separate sample of 2,204 individuals. We discovered an association between a low-frequency missense variant in TAAR5 and reduced intensity rating of fish odor containing trimethylamine (p.Ser95Pro, p
Rethinking Consent for Stroke Trials in Time-Sensitive Situations: Insights From the COVID-19 Pandemic.
Stroke, 2021

Informed consent is a key concept to ensure patient autonomy in clinical trials and routine care. The coronavirus disease 2019 (COVID-19) pandemic has complicated informed consent processes, due to physical distancing precautions and increased physician workload. As such, obtaining timely and adequate patient consent has become a bottleneck for many clinical trials. However, this challenging situation might also present an opportunity to rethink and reappraise our approach to consent in clinical trials. This viewpoint discusses the challenges related to informed consent during the COVID-19 pandemic, whether it could be acceptable to alter current consent processes under these circumstances, and outlines a possible framework with predefined criteria and a system of checks and balances that could allow for alterations of existing consent processes to maximize patient benefit under exceptional circumstances such as the COVID-19 pandemic without undermining patient autonomy.
Olfaction in Homozygous and Heterozygous SYNJ1 Arg258Gln Mutation Carriers.
Movement disorders clinical practice, 2015

Hyposmia is a common nonmotor symptom in Parkinson's disease (PD) and has been variably detected in monogenic parkinsonism. SYNJ1 has been recently identified as the gene defective in a novel form of autosomal-recessive, early-onset atypical parkinsonism, designed as PARK20. To assess olfaction in PARK20, we administered the University of Pennsylvania Smell Identification Test (UPSIT) in four groups of subjects: SYNJ1 homozygous (HOM = 3) and heterozygous (HET = 4); sporadic PD (PD = 68); and healthy control subjects (CTR = 61). A linear regression model was constructed to assess the association between raw UPSIT score (outcome) and group (HOM, HET, PD, and CTR), adjusting for age, gender, and current smoking status. Likewise in PD patients, odor identification is impaired in homozygous SYNJ1 mutation carriers. Although the limited sample size precludes definite conclusions about olfaction in SYNJ1-related parkinsonism, our findings suggest new insights into PARK20 phenotype and pathophysiology.
Engineering REST-Specific Synthetic PUF Proteins to Control Neuronal Gene Expression: A Combined Experimental and Computational Study.
ACS synthetic biology, 2020

Regulation of gene transcription is an essential mechanism for differentiation and adaptation of organisms. A key actor in this regulation process is the repressor element 1 (RE1)-silencing transcription factor (REST), a transcriptional repressor that controls more than 2000 putative target genes, most of which are neuron-specific. With the purpose of modulating REST expression, we exploited synthetic,
Cognitive and behavioral profile of Perry syndrome in two families.
Parkinsonism & related disorders, 2020

Perry syndrome (PS) is a rare neurodegenerative disorder with autosomal dominant inheritance caused by point mutations in DCTN1 and characterized by parkinsonism, hypoventilation, weight loss, and psychiatric symptoms. Even though behavioral manifestation is a main feature of PS, detailed neuropsychological assessment was not performed in this cohort. In this study, the neuropsychological profile of individuals from one Polish and one Colombian family are presented.
Temporal expectation driven by rhythmic cues compared to that driven by symbolic cues provides a more precise attentional focus in time.
Attention, perception & psychophysics, 2021

Temporal expectation is the ability to select the precise point in time for doing something to produce an optimal effect. Two sources of information that humans use to generate temporal expectations are rhythmic and symbolic cues. Both types of cues have been proven effective in directing attention to a future point in time resulting in improved performance. However, the temporal precision of the two forms of temporal expectation have rarely been compared. In the current study, 17 participants performed two temporal expectation tasks in which either a rhythmic cue or a symbolic cue indicated that a future target would appear after a 500-ms (short) or 1,500-ms (long) interval; the target appeared at the expected time in 54% of trials and at an unexpected earlier or later interval in 36% of trials. In both tasks, we observed that the reaction time (RT) curves were U-shaped, with a slower RT for the earlier and later unexpected intervals and a faster RT for intervals approaching the expected point in time. Furthermore, we found a significant interaction between task and the quadratic term of temporal expectation, which indicates that the U-shaped RT curves for the rhythmic cue task are steeper than those for the symbolic cue task. Thus, the current results revealed that compared with symbolic cues, temporal expectation driven by rhythmic cues provides a more precise attentional focus in time.
Brain Oscillations and Their Implications for Neurorehabilitation.
Brain & NeuroRehabilitation, 2021

Neural oscillation is rhythmic or repetitive neural activities, which can be observed at all levels of the central nervous system (CNS). The large-scale oscillations measured by electroencephalography have long been used in clinical practice and may have a potential for the usage in neurorehabilitation for people with various CNS disorders. The recent advancement of computational neuroscience has opened up new opportunities to explore clinical application of the results of neural oscillatory activity analysis to evaluation and diagnosis; monitoring the rehab progress; prognostication; and personalized rehabilitation planning in neurorehabilitation. In addition, neural oscillation is catching more attention to its role as a target of noninvasive neuromodulation in neurological disorders.
Impaired emotional and behavioural awareness and control in patients with dissociative seizures.
Psychological medicine, 2020

Dissociative seizures (DS) are brief episodes of disrupted awareness and behavioural control that may resemble epileptic seizures. They are thought to arise in the context of impaired emotion processing and disinhibition. In a multi-perspective neuropsychological study, we aim to assess specific metacognitive traits and behavioural features involved in the affective and cognitive underpinnings of DS (emotion recognition and regulation, inhibition, interoception and sense of agency).
Early Motor Differences in Infants at Elevated Likelihood of Autism Spectrum Disorder and/or Attention Deficit Hyperactivity Disorder.
Journal of autism and developmental disorders, 2020

We investigated infant's manual motor behaviour; specifically behaviours crossing the body midline. Infants at elevated likelihood of Autism Spectrum Disorder (ASD) and/or Attention Deficit Hyperactivity Disorder (ADHD) produced fewer manual behaviours that cross the midline compared to infants with a typical likelihood of developing these disorders; however this effect was limited to 10-month-olds and not apparent at age 5 and 14 months. Although, midline crossing did not predict ASD traits, it was related to ADHD traits at 2 years of age. We rule out motor ability and hand dominance as possible explanations for this pattern of behaviour, positing that these results may be a consequence of multisensory integration abilities, and the neurobehavioural shift period, in the first year of life.
Functional differentiation of human brain progenitor cells.
Neuron glia biology, 2006

Stem cells and progenitor cells derived from the developing human brain have been shown to differentiate into neurons and astrocytes. However, few studies have examined the functional, physiological properties of these differentiated neurons and astrocytes. In this study we have used immunocytochemistry in combination with electrophysiology to examine protein machinery and functional properties of neurons and astrocytes differentiated from human brain progenitor cells (hBPCs).Our results show that serum induces mainly astrocytic phenotype cells that express GFAP and have physiological properties that are typical of astrocytes. hBPCs differentiated with BDNF and PDGF develop mainly into neurons expressing mature neuronal proteins MAP-2, synaptobrevin II and vesicular glutamate transporter I in the process, plus a small population of GFAP-positive radial cells. Based on electrophysiology of BDNF/PDGF-treated cells two classes of cell were identified. Class I cells have functional neuronal properties, including functional voltage-gated Na(+) and K(+) currents, functional AMPA receptors and the ability to generate action potentials. A smaller subpopulation of cells (Class II cells) expresses GFAP and exhibit functional properties of astrocytes, including linear current-voltage relationship and dye-coupling.
Direct and Indirect Effects of Trait and State Gratitude on Health-Related Quality of Life in a Prospective Design.
Psychological reports, 2020

Gratitude has been consistently linked to well-being, but its influence on health-related functioning is not well understood. Furthermore, research suggests the need to differentiate between-person and within-person effects of personality characteristics, and research on gratitude and health has not typically done so. This prospective study aimed to (1) differentiate the unique effects of trait and state gratitude on health-related quality of life (HRQoL) and (2) test state gratitude as a mediator between baseline trait gratitude and subsequent HRQoL. Undergraduate participants (
Time-Varying Functional Connectivity Decreases as a Function of Acute Nicotine Abstinence.
Biological psychiatry. Cognitive neuroscience and neuroimaging, 2021

The nicotine withdrawal syndrome (NWS) includes affective and cognitive disruptions whose incidence and severity vary across time during acute abstinence. However, most network-level neuroimaging uses static measures of resting-state functional connectivity and assumes time-invariance and is thus unable to capture dynamic brain-behavior relationships. Recent advances in resting-state functional connectivity signal processing allow characterization of time-varying functional connectivity (TVFC), which characterizes network communication between networks that reconfigure over the course of data collection. Therefore, TVFC may more fully describe network dysfunction related to the NWS.
Improving Pediatric Neuro-Oncology Survival Disparities in the United States-Mexico Border Region: A Cross-Border Initiative Between San Diego, California, and Tijuana, Mexico.
JCO global oncology, 2020

Treatment of children with CNS tumors (CNSTs) demands a complex, interdisciplinary approach that is rarely available in low- and middle-income countries. We established the Cross-Border Neuro-Oncology Program (CBNP) between Rady Children's Hospital, San Diego (RCHSD), and Hospital General, Tijuana (HGT), Mexico, to provide access to neuro-oncology care, including neurosurgic services, for children with CNSTs diagnosed at HGT. Our purpose was to assess the feasibility of the CBNP across the United States-Mexico border and improve survival for children with CNSTs at HGT by implementing the CBNP.
Measuring coping in people with amyotrophic lateral sclerosis using the Coping Index-ALS: A patient derived, Rasch compliant scale.
Journal of the neurological sciences, 2021

The progressively disabling and terminal nature of ALS/MND imposes major coping demands on patients. We wished to improve the psychometric properties of our previously published MND-Coping Scale, so that parametric analyses were valid, and to make it simpler for patients to complete and clinicians to score.
Prediction of novel isoforms of the mouse Mpv17l protein.
Genome, 2009

The Mpv17l protein has two isoforms, M-LPL and M-LPS, which both regulate the production of reactive oxygen species (ROS) and protect against mitochondrial oxidative stress and apoptosis. M-LPL is ubiquitously expressed, while M-LPS is expressed mostly in the kidney of aged animals. We identified a variety of transcripts of the Mpv17l gene that could encode novel isoforms by mapping expressed sequence tags on the mouse M-LP genomic locus. We analysed the expression and evolutionary conservation of a novel Mpv17l transcript (mpv17l-002) that is predicted to encode a new protein, termed M-LP2. The isoform M-LP2 has the full length of M-LPS plus six amino acids at the end of its amino terminus, which could be encoded by an alternative 5'-flanking sequence. We show that the mRNA of M-LP2 has a different pattern of expression than the mRNA of M-LPS, and sequences of both transcripts are conserved in the rodent genome; however, neither of these isoforms is detected in the human genome. These observations suggest that the functions of certain M-LP isoforms are tissue- and species-specific, implying that their potential involvement in ROS metabolism may be redundant or may be complemented by other members of the Mpv17 family.
Derivation of iPSC lines from two patients with autism spectrum disorder carrying NRXN1α deletion (NUIGi041-A, NUIG041-B; NUIGi045-A) and one sibling control (NUIGi042-A, NUIGi042-B).
Stem cell research, 2021

NRXN1 encodes thousands of splicing variants categorized into long NRXN1α, short NRXN1β and extremely short NRXN1γ, which exert differential roles in neuronal excitation/inhibition. NRXN1α deletions are common in autism spectrum disorder (ASD) and other neurodevelopmental/neuropsychiatric disorders. We derived induced pluripotent stem cells (iPSCs) from one sibling control and two ASD probands carrying NRXN1α
Long term visuo-vestibular mismatch in freely behaving mice differentially affects gaze stabilizing reflexes.
Scientific reports, 2020

The vestibulo-ocular reflex (VOR) and the optokinetic reflex (OKR) work synergistically to stabilize gaze in response to head movements. We previously demonstrated that a 14-day visuo-vestibular mismatch (VVM) protocol applied in freely behaving mice decreased the VOR gain. Here, we show for the first time that the OKR gain is also reduced and report on the recovery dynamics of both VOR and OKR after the end of the VVM protocol. Using sinusoidally-modulated stimulations, the decreases in VOR and OKR were found to be frequency-selective with larger reductions for frequencies < 0.5 Hz. Constant-velocity OKR stimulation tests demonstrated that the persistent components of the OKR were not modified while the transient, initial responses were. To identify the signals driving VOR and OKR reductions, we compared the responses of mice exposed to a high-contrast and no-contrast VVM. Despite being more robust in the high-contrast conditions, reductions were largely comparable and recovered with a similar time course. An analysis that directly compared VOR and OKR responses revealed that, alterations in the VOR were of significantly larger amplitude with significantly slower dynamics of recovery. Our findings are evidence for a frequency-selective influence of visual signals in the tuning of gaze stabilizing reflexes in normal mice.
I. Antidepressants and sexual behavior: Weekly ketamine injections increase sexual behavior initially in female and male rats.
Pharmacology, biochemistry, and behavior, 2020

The present study characterized the effects of weekly ketamine injections on sexual behavior and anxiety in female and male rats, using a dosing protocol that mimics human therapeutic treatment for depression. In Experiment 1A, ketamine (10 mg/kg, i.p.) or saline was injected once per week for four consecutive weeks. The partner preference paradigm was used to measure sexual motivation 30 min after each weekly injection. Briefly, subjects were first given a 10-min test during which they could choose to spend time in the vicinity of a sexually receptive female stimulus or a sexually experienced male stimulus, however physical contact was restricted (no-contact). Immediately after, subjects were given unrestricted access to the stimulus animals (contact). After a washout period, subjects received four additional weekly injections of ketamine or saline, and then were tested for anxiety-like behavior on the elevated plus maze (EPM) after the last injection (Experiment 1B). For Experiment 2, similar procedures were used to test the effects of weekly ketamine injections on sexual motivation (Experiment 2A) and anxiety (Experiment 2B) in male subjects. In female subjects, ketamine increased sexual motivation as measured by greater time spent with the male stimulus, decreased likelihood of leaving after receiving mounts, and shorter return latencies after receiving intromissions, when compared to saline controls. In male subjects, ketamine shortened latency to first mount and first intromission, as well as increased time spent with the female stimulus. Very little anxiety was observed in either group (ketamine or saline) of female or male subjects when tested on the EPM. In conclusion, even after four weeks of ketamine exposure, sexual dysfunction did not emerge in either females or males. In contrast, ketamine increased sexual motivation in both females and males, with an initial robust response. However, as both groups gained sexual experience, the impact of ketamine diminished.
Clinical profile of Monomelic Amyotrophy (MMA) and role of persistent viral infection.
Journal of the neurological sciences, 2015

The objective of our study was to describe the clinical characteristics, electrophysiology, MRI features and conduct viral assays in patients with Monomelic Amyotrophy (MMA) and follow them up over one year.
Single-channel analysis of glutamate receptors.
Current protocols in pharmacology, 2015

This is a companion to UNIT 11.16: Single-Channel Recording of Glutamate Receptors. Described here are techniques for analyzing single-channel currents recorded from glutamate receptors to characterize their properties. In addition, issues that need to be taken into account when analyzing glutamate receptor single-channel recording results are discussed.