rudyvdbrink/CitationDatabase huggingface dataset:
Genetic Variation and Autism: A Field Synopsis and Systematic Meta-Analysis.
Brain sciences, 2020

This study aimed to verify noteworthy findings between genetic risk factors and autism spectrum disorder (ASD) by employing the false positive report probability (FPRP) and the Bayesian false-discovery probability (BFDP). PubMed and the Genome-Wide Association Studies (GWAS) catalog were searched from inception to 1 August, 2019. We included meta-analyses on genetic factors of ASD of any study design. Overall, twenty-seven meta-analyses articles from literature searches, and four manually added articles from the GWAS catalog were re-analyzed. This showed that five of 31 comparisons for meta-analyses of observational studies, 40 out of 203 comparisons for the GWAS meta-analyses, and 18 out of 20 comparisons for the GWAS catalog, respectively, had noteworthy estimations under both Bayesian approaches. In this study, we found noteworthy genetic comparisons highly related to an increased risk of ASD. Multiple genetic comparisons were shown to be associated with ASD risk; however, genuine associations should be carefully verified and understood.
Cognition and behaviour in frontotemporal dementia with and without amyotrophic lateral sclerosis.
Journal of neurology, neurosurgery, and psychiatry, 2020

The precise relationship between frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) is incompletely understood. The association has been described as a continuum, yet data suggest that this may be an oversimplification. Direct comparisons between patients who have behavioural variant FTD (bvFTD) with and without ALS are rare. This prospective comparative study aimed to determine whether there are phenotypic differences in cognition and behaviour between patients with FTD-ALS and bvFTD alone.
Cultural Consensus Modeling to Understand South African Adolescent Girls' Attitudes, Awareness, and Uptake of Dual Protection Strategies.
The Journal of adolescent health : official publication of the Society for Adolescent Medicine, 2020

This study used cultural consensus modeling to elucidate culturally relevant factors associated with dual protection use (strategies to prevent both pregnancy and sexually transmitted infection [STI]/HIV) among South African adolescent girls aged 14-17 years.
Discontinuation of antipsychotics treatment for elderly patients within a specialized behavioural unit: a retrospective review.
International journal of clinical pharmacy, 2021

Background Best practice guidelines recommend regular evaluation of antipsychotics in managing behaviours for dementia patients with a view to de-prescribing, given its significant mortality and adverse outcomes (Reus et al. in Am J Psychiatry 173(5):543-546, 2016, Deprescribing Guidelines and Algorithms in https://deprescribing.org/resources/deprescribing-guidelines-algorithms/ , 2019). The relationship between the dose of antipsychotic and the probability of discontinuation remains unknown in hospitalized dementia patients. Objectives This study aims to examine the relationship between high dose antipsychotic (greater than 62 mg chlorpromazine equivalent daily dose) and antipsychotics discontinuation in hospitalized dementia patients. Setting Specialized Dementia Behavioral Health Program in Hamilton, Ontario, Canada. Method A retrospective chart review was completed from August to December of 2019. A univariate logistic regression model was applied to antipsychotic doss (in chlorpromazine equivalent) and antipsychotic discontinuation outcome at 60 days (Narayan and Nishtala in Eur J Clin Pharmacol 73(12):1665-1672, 2017). A multivariant model was used to assess potential confounders, including other psychiatric medication exposure and Medicines Comorbidity Index (Luthra in J Gerontol Geriatr Res 4(260):2, 2015). Regression and dose-response models were utilized to identify the threshold dose (maximum daily dose). Main outcome measures Antipsychotic discontinuation at 60 days after the last dose. Results A total of 42 patients were eligible for outcome analysis. High dose antipsychotic was associated with worse discontinuation outcomes in both unadjusted (odds ratio, 0.09; 95% confidence interval, 0.02-0.37; p < 0.01) and adjusted generalized estimation equation models (odds ratio 0.65; 95% confidence interval, 0.59-0.72; p = 0.01). There were no statistically significant associations between baseline comorbidities (Medicines Comorbidity Index) (p = 0.68), mood stabilizer (p = 0.14), benzodiazepines (p = 0.93) and antidepressant exposure (p = 0.68) with antipsychotic discontinuation. The logistic regression model identified 40.7 mg of quetiapine, 1.7 mg of olanzapine and 0.51 mg of risperidone as the threshold dose, balancing sensitivity and specificity. The dose-response model also identified similar doses of 42 mg of quetiapine, 1.76 mg of olanzapine and 0.53 mg of risperidone. Conclusion The use of high dose antipsychotics is associated with worse discontinuation outcomes in hospitalized dementia patients. Therefore, our results suggest not exceeding a daily dose of 50 mg of quetiapine, 1.75 mg of olanzapine and 0.5 mg of risperidone when used for responsive behaviours and reassess the benefits and risks for each patient regularly.
Leveraging nonlinear dynamic models to predict progression of neuroimaging biomarkers.
Biometrics, 2019

Using biomarkers to model disease course effectively and make early prediction is a challenging but critical path to improving diagnostic accuracy and designing preventive trials for neurological disorders. Leveraging the domain knowledge that certain neuroimaging biomarkers may reflect the disease pathology, we propose a model inspired by the neural mass model from cognitive neuroscience to jointly model nonlinear dynamic trajectories of the biomarkers. Under a nonlinear mixed-effects model framework, we introduce subject- and biomarker-specific random inflection points to characterize the critical time of underlying disease progression as reflected in the biomarkers. A latent liability score is shared across biomarkers to pool information. Our model allows assessing how the underlying disease progression will affect the trajectories of the biomarkers, and, thus, is potentially useful for individual disease management or preventive therapeutics. We propose an EM algorithm for maximum likelihood estimation, where in the E step, a normal approximation is used to facilitate numerical integration. We perform extensive simulation studies and apply the method to analyze data from a large multisite natural history study of Huntington's Disease (HD). The results show that some neuroimaging biomarker inflection points are early signs of the HD onset. Finally, we develop an online tool to provide the individual prediction of the biomarker trajectories given the medical history and baseline measurements.
Gray matter volume in the right angular gyrus is associated with differential patterns of multisensory integration with aging.
Neurobiology of aging, 2021

Multisensory perception might provide an important marker of brain function in aging. However, the cortical structures supporting multisensory perception in aging are poorly understood. In this study, we compared regional gray matter volume in a group of middle-aged (n = 101; 49-64 years) and older (n = 116; 71-87 years) adults from The Irish Longitudinal Study on Aging using voxel-based morphometry. Participants completed a measure of multisensory integration, the sound-induced flash illusion, and were grouped as per their illusion susceptibility. A significant interaction was observed in the right angular gyrus; in the middle-aged group, larger gray matter volume corresponded to stronger illusion perception while in older adults larger gray matter corresponded to less illusion susceptibility. This interaction remained significant even when controlling for a range of demographic, sensory, cognitive, and health variables. These findings show that multisensory integration is associated with specific structural differences in the aging brain and highlight the angular gyrus as a possible "cross-modal hub" associated with age-related change in multisensory perception.
The Effect of Cognitive Load on Intent-Based Moral Judgment.
Cognitive science, 2021

When making a moral judgment, people largely care about two factors: Who did it (causal responsibility), and did they intend to (intention)? Since Piaget's seminal studies, we have known that as children mature, they gradually place greater emphasis on intention, and less on mere bad outcomes, when making moral judgments. Today, we know that this developmental shift has several signature properties. Recently, it has been shown that when adults make moral judgments under cognitive load, they exhibit a pattern similar to young children; that is, their judgments become notably more outcome based. Here, we show that all of the same signature properties that accompany the outcome-to-intent shift in childhood characterize the "intent-to-outcome" shift obtained under cognitive load in adults. These findings hold important implications for current theories of moral judgment.
PDGFRA gene, maternal binge drinking and obstructive heart defects.
Scientific reports, 2018

Obstructive heart defects (OHDs) are a major health concern worldwide. The platelet-derived growth factor (PDGF) genes are known to have regulatory functions that are essential for proper heart development. In a zebrafish model, Pdgfra was further demonstrated to interact with ethanol during craniofacial development. In this article, we investigated interactions between variants in PDGF genes and periconceptional alcohol exposure on the risk of OHDs by applying log-linear models to 806 OHD case and 995 control families enrolled in the National Birth Defects Prevention Study. The interactions between four variants in PDGFA and maternal binge drinking reached a nominal significance level. The maternal T allele of rs869978 was estimated to increase OHD risk among women who binge drink, while infant genotypes of rs2291591, rs2228230, rs1547904, and rs869978 may reduce the risk. Although none of these associations remain statistically significant after multiple testing adjustment and the estimated maternal effect may be influenced by unknown confounding factors, such as maternal smoking, these findings are consistent with previous animal studies supporting potential interactions between the PDGFRA gene and maternal alcohol exposure. Replication studies with larger sample sizes are needed to further elucidate this potential interplay and its influence on OHD risks.
Prevalence and subtype distribution of early-onset dementia in Japan.
Psychogeriatrics : the official journal of the Japanese Psychogeriatric Society, 2020

People living with early-onset dementia (EOD) have specific social needs. Epidemiological studies are needed to obtain current information and provide appropriate service planning. This study aimed to clarify the current prevalence and subtype distribution of EOD, as well as the services frequently used by individuals with EOD.
Local externalization of phosphatidylserine mediates developmental synaptic pruning by microglia.
The EMBO journal, 2020

Neuronal circuit assembly requires the fine balance between synapse formation and elimination. Microglia, through the elimination of supernumerary synapses, have an established role in this process. While the microglial receptor TREM2 and the soluble complement proteins C1q and C3 are recognized as key players, the neuronal molecular components that specify synapses to be eliminated are still undefined. Here, we show that exposed phosphatidylserine (PS) represents a neuronal "eat-me" signal involved in microglial-mediated pruning. In hippocampal neuron and microglia co-cultures, synapse elimination can be partially prevented by blocking accessibility of exposed PS using Annexin V or through microglial loss of TREM2. In vivo, PS exposure at both hippocampal and retinogeniculate synapses and engulfment of PS-labeled material by microglia occurs during established developmental periods of microglial-mediated synapse elimination. Mice deficient in C1q, which fail to properly refine retinogeniculate connections, have elevated presynaptic PS exposure and reduced PS engulfment by microglia. These data provide mechanistic insight into microglial-mediated synapse pruning and identify a novel role of developmentally regulated neuronal PS exposure that is common among developing brain structures.
Progress in Clinical Neurosciences, Cognitive Neurosciences, Clinical Psychology, Neurotechnology and Brain Mapping in Malaysia.
The Malaysian journal of medical sciences : MJMS, 2021

Last year, there was an increase in the amount of manpower in Malaysia, especially in terms of the numbers of neurosurgeons, cognitive neuroscientists and clinical psychologists. One way to increase the number of cognitive neurotechnologists in the country in 2021 is to allow neuroscientists to register as neurotechnologists with the Malaysian Board of Technologists (MBOT). The Malaysian Brain Mapping project has risen from its humble beginnings as an initiative of the Universiti Sains Malaysia Brain Mapping Group in 2017. There is currently a proposal for its entry into the national arena via the Precision Medicine Initiative with the Academy Science Malaysia, the Ministry of Science, Technology and Innovation, Ministry of Higher Education and Ministry of Health. The current Malaysian Government's Science, Technology, Innovation and Economy (STIE) plan was launched in 2020, leading to the establishment of neurotechnology as one of 10 STIE drivers.
The experience of pleasure before and after hearing rehabilitation.
International journal of rehabilitation research. Internationale Zeitschrift fur Rehabilitationsforschung. Revue internationale de recherches de readaptation, 2010

Hearing loss may lead to major changes in the social and emotional aspects of daily life. This follow-up study investigated the effect of hearing-aid use on emotional experience in adults with hearing impairment. Thirteen individuals with impaired hearing were tested before and after 6 months of hearing-aid use, and were compared with 19 individuals who had worn hearing aids for many years. The participants reported their daily emotional experiences, by completing questionnaires relating to sensory and social pleasure. After 6 months of hearing-aid use, individuals experienced more physical and social pleasure, whereas individuals using hearing aids for long periods of time reported similar levels of pleasure at the beginning and at the end of a 6-month interval. The participants also performed a visual task, in which they rated the intensity of pleasure they experienced in response to emotionally positive and neutral pictures differing in luminance contrast. In this task, pleasure typically decreases with decreasing contrast of the positive images displayed. Once they had been fitted with hearing aids, the participants reported lower levels of pleasure, especially at low contrast. These findings highlight that the anhedonia scales provide a measure sensitive to emotional improvements that accompany the partial restoration of hearing function, although these scales were not specifically designed for hearing-impaired populations. In contrast, the surprising decrease in pleasure ratings for pictures after the introduction of hearing-aid use may be because of the compensation of hearing loss by changes in visual attention functions.
Treatment experience of Taiwanese patients with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase myopathy.
The Kaohsiung journal of medical sciences, 2020

Immune-mediated necrotizing myopathy (IMNM) has emerged as a new subgroup of idiopathic inflammatory myopathy in the past decade, associated with the presence of two autoantibodies against signal recognition particle and 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR). We aim to analyze the clinical, pathological, and imaging phenotypes of the patients with anti-HMGCR myopathy in our cohort. Five patients with anti-HMGCR myopathy have been enrolled who were all female; three were pediatric and two were adult patients. The muscle pathology of patients met the diagnostic criteria of IMNM. On muscle magnetic resonance imaging, adductors were earliest affected while lower legs were relatively preserved with highest degree of involvement in medial head of gastrocnemius. In upper extremities, biceps brachii was the most severely involved, followed by triceps. All patients were refractory to steroid mono-therapy. For pediatric patients, all three patients eventually became responsive to steroid with either intravenous immunoglobulin or rituximab despite variable motor function recovered at present due to different intervention timing. For adult patients, one with statin exposure responded well to steroid and azathioprine use and the motor function returned to the baseline. The other adult patient finally got stabilized and slowly improved with steroid and methotrexate 13 years after the start of therapy. The creatine kinase (CK) levels of all patients were decreased along with clinical severity. In conclusion, muscle imaging might be of help for the diagnosis. Treatment with immuno-suppressants could be considered together with steroid from the beginning.
Neurological involvement of coronavirus disease 2019: a systematic review.
Journal of neurology, 2020

In December 2019, unexplained cases of pneumonia emerged in Wuhan, China, which were found to be secondary to the novel coronavirus SARS-CoV-2. On March 11, 2020, the WHO declared the Coronavirus Disease 2019 (COVID-2019) outbreak, a pandemic.
Analysis of Parvocellular and Magnocellular Visual Pathways in Human Retina.
The Journal of neuroscience : the official journal of the Society for Neuroscience, 2020

Two main subcortical pathways serving conscious visual perception are the midget-parvocellular (P), and the parasol-magnocellular (M) pathways. It is generally accepted that the P pathway serves red-green color vision, but the relative contribution of P and M pathways to spatial vision is a long-standing and unresolved issue. Here, we mapped the spatial sampling properties of P and M pathways across the human retina. Data were obtained from immunolabeled vertical sections of six postmortem male and female human donor retinas and imaged using high-resolution microscopy. Cone photoreceptors, OFF-midget bipolar cells (P pathway), OFF-diffuse bipolar (DB) types DB3a and DB3b (M pathway), and ganglion cells were counted along the temporal horizontal meridian, taking foveal spatial distortions (postreceptoral displacements) into account. We found that the density of OFF-midget bipolar and OFF-midget ganglion cells can support one-to-one connections to 1.05-mm (3.6°) eccentricity. One-to-one connections of cones to OFF-midget bipolar cells are present to at least 10-mm (35°) eccentricity. The OFF-midget ganglion cell array acuity is well-matched to photopic spatial acuity measures throughout the central 35°, but the OFF-parasol array acuity is well below photopic spatial acuity, supporting the view that the P pathway underlies high-acuity spatial vision. Outside the fovea, array acuity of both OFF-midget and OFF-DB cells exceeds psychophysical measures of photopic spatial acuity. We conclude that parasol and midget pathway bipolar cells deliver high-acuity spatial signals to the inner plexiform layer, but outside the fovea, this spatial resolution is lost at the level of ganglion cells.
Codes and circuits.
Cellular and molecular neurobiology, 2011

Marshall Nirenberg will always be remembered for deciphering the genetic code by which DNA and RNA sequences specify the amino acid sequence in proteins. His switch to neurobiology in the 1960s was driven, in part, by an interest in the possibility of a neural code specifying the development and functioning of the neural circuits that underlie brain function. Neural cell adhesion or recognition molecules would probably be involved in such circuit formation, and this review briefly examines one set of such molecules. The specific binding between presynaptic neurexins and postsynaptic neuroligins could constitute one aspect of the code underlying the formation of specific synaptic circuits.
Changes in network centrality of psychopathology symptoms between the COVID-19 outbreak and after peak.
Molecular psychiatry, 2020

The current study investigated the mechanism and changes in psychopathology symptoms throughout the COVID-19 outbreak and after peak. Two studies were conducted separately in China during outbreak and the after peak stages, with 2540 participants were recruited from February 6 to 16, 2020, and 2543 participants were recruited from April 25 to May 5, 2020. The network models were created to explore the relationship between psychopathology symptoms both within and across anxiety and depression, with anxiety measured by the Generalized Anxiety Disorder-7 and depression measured by the Patient Health Questionnaire-9. Symptom network analysis was conducted to evaluate network and bridge centrality, and the network properties were compared between the outbreak and after peak. Noticeably, psychomotor symptoms such as impaired motor skills, restlessness, and inability to relax exhibited high centrality during the outbreak, which still relatively high but showed substantial remission during after peak stage (in terms of strength, betweenness, or bridge centrality). Meanwhile, symptoms of irritability (strength, betweenness, or bridge centrality) and loss of energy (bridge centrality) played an important role in the network after the peak of the pandemic. This study provides novel insights into the changes in central features during the different COVID-19 stages and highlights motor-related symptoms as bridge symptoms, which could activate the connection between anxiety and depression. The results revealed that restrictions on movement were associated with worsen in psychomotor symptoms, indicating that future psychological interventions should target motor-related symptoms as priority.
Using Near-infrared Fluorescence and High-resolution Scanning to Measure Protein Expression in the Rodent Brain.
Journal of visualized experiments : JoVE, 2019

Neuroscience is the study of how cells in the brain mediate various functions. Measuring protein expression in neurons and glia is critical for the study of neuroscience as cellular function is determined by the composition and activity of cellular proteins. In this article, we describe how immunocytochemistry can be combined with near-infrared high-resolution scanning to provide a semi-quantitative measure of protein expression in distinct brain regions. This technique can be used for single or double protein expression in the same brain region. Measuring proteins in this fashion can be used to obtain a relative change in protein expression with an experimental manipulation, molecular signature of learning and memory, activity in molecular pathways, and neural activity in multiple brain regions. Using the correct proteins and statistical analysis, functional connectivity among brain regions can be determined as well. Given the ease of implementing immunocytochemistry in a laboratory, using immunocytochemistry with near-infrared high-resolution scanning can expand the ability of the neuroscientist to examine neurobiological processes at a systems level.
Impaired explicit self-awareness but preserved behavioral regulation in patients with Alzheimer disease.
Aging & mental health, 2021

Impairments of metacognitive skills represent a critical symptom in Alzheimer Disease (AD) because it frequently results in a lack of self-awareness. However, recent findings suggest that, despite an inability to explicitly estimate their own cognitive functioning, patients might demonstrate some implicit recognition of difficulties. In this study, we tested whether a behavioral dissociation between explicit and implicit measures of metacognition can be found in both healthy older controls (