rudyvdbrink/CitationDatabase huggingface dataset:
Identifying a task-invariant cognitive reserve network using task potency.
NeuroImage, 2020

Cognitive reserve (CR) is thought to protect against the consequence of age- or disease-related structural brain changes across multiple cognitive domains. The neural basis of CR may therefore comprise a functional network that is actively involved in many different cognitive processes. To investigate the existence of such a "task-invariant" CR network, we measured functional connectivity in a cognitively normal sample between 20 and 80 years old (N ​= ​265), both at rest and during the performance of 11 separate tasks that aim to capture four latent cognitive abilities (i.e. vocabulary, episodic memory, processing speed, and fluid reasoning). For each individual, we determined the change in functional connectivity from the resting state to each task state, which is referred to as "task potency" (Chauvin et al., 2018, 2019). Task potency was calculated for each pair among 264 nodes (Power et al., 2012) and then summarized across tasks reflecting the same cognitive ability. Subsequently, we established the correlation between task potency and IQ or education (i.e. CR factors). We identified a set of 57 pairs in which task potency showed significant correlations with IQ, but not education, across all four cognitive abilities. These pairs were included in a principal component analysis, from which we extracted the first component to obtain a latent variable reflecting task potency in this task-invariant CR network. This task potency variable was associated with better episodic memory (β ​= ​0.19, p ​< ​.01) and fluid reasoning performance (β ​= ​0.17, p ​< ​.01) above and beyond the effects of cortical thickness (range [absolute] β ​= ​0.28-0.32, p ​< ​.001). Our identification of this task-invariant network contributes to a better understanding of the mechanism underlying CR, which may facilitate the development of CR-enhancing treatments. Our work also offers a useful alternative operational measure of CR for future studies.
Generation of a set of isogenic iPSC lines carrying all APOE genetic variants (Ɛ2/Ɛ3/Ɛ4) and knock-out for the study of APOE biology in health and disease.
Stem cell research, 2021

APOE genotype is the strongest genetic risk factor for Alzheimer's Disease (AD). The low degree of homology between mouse and human APOE is a concerning issue in preclinical models currently used to study the role of this gene in AD pathophysiology. A key objective of ADAPTED (Alzheimer's Disease Apolipoprotein Pathology for Treatment Elucidation and Development) project was to generate in vitro models that better recapitulate human APOE biology. We describe a new set of induced pluripotent stem cells (iPSC) lines carrying common APOE variants (Ɛ2, Ɛ3, and Ɛ3/Ɛ4) and a knock-out isogenic to the parental APOE Ɛ4/Ɛ4 line (UKBi011-A).
Cell-type-specific 3D epigenomes in the developing human cortex.
Nature, 2020

Lineage-specific epigenomic changes during human corticogenesis have been difficult to study owing to challenges with sample availability and tissue heterogeneity. For example, previous studies using single-cell RNA sequencing identified at least 9 major cell types and up to 26 distinct subtypes in the dorsal cortex alone
Solving the crisis in psychopharmacological research: Cellular-membrane(s) pharmacology to the rescue?
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie, 2020

There is an urgent need for the introduction of novel and better (i.e., improved risk-benefit profile) compounds for the treatment of major psychiatric disorders, in particular mood and psychotic disorders. However, despite increased societal awareness and a rising public and professional demand for such agents from patients and physicians, the pharmaceutical industry continues to close down its psychopharmacology research facilities in reaction to the lack of success with the search for new psychotropics. It is high time to stop this untoward trend and explore "new" lines of investigation to solve the current crisis in psychopharmacological research. In line with the prevailing molecular view in drug research in general, also in psychopharmacology mechanistic explanations for drug effects are "traditionally" looked for at the level of molecular targets, like receptors and transporters. Also, more recent approaches, although using so-called systems- and function-based approaches to model the multidimensional characteristics of psychiatric disorders and psychotropic drug action, still emphasize this search strategy for new therapeutic leads by identification of single molecules or molecular pathways. This "psychomolecular gaze" overlooks and disregards the fact that psychotropic agents usually are highly hydrophobic and amphipathic/amphiphilic agents that, in addition to their interaction with membrane-bound proteins in the form of e.g. receptors or transporters, also interact strongly with the lipid component of cellular membranes. Here we suggest to develop a program of systematic, whole-cell level based, investigation into the role of these physical-chemical cellular membrane interactions in the therapeutic action of known psychotherapeutics. This complementary yet conceptually different approach, in our opinion, will complement drug development in psychopharmacology and thereby assist in overcoming the current crisis. In this way the "old" physical theory of drug action, which antedates the current, primary molecular, paradigm may offer "new" options for lead discovery in psychopharmacological research.
Does APOE genotype moderate the relationship between physical activity, brain health and dementia risk? A systematic review.
Ageing research reviews, 2020

For decades, researchers have tried to understand the moderating effect of APOE ε4 carriage on the relationship between physical activity (PA), brain health and dementia risk. However, this field has produced inconsistent findings.
Left atrial strain as a pre-operative prognostic marker for patients with severe mitral regurgitation.
International journal of cardiology, 2021

In patients with severe mitral regurgitation (MR), additional echocardiographic indices could be helpful to optimize surgical timing before irreversible left heart myocardial dysfunction has occurred. We investigated the correlation of left atrial (LA) strain by speckle tracking echocardiography with prognosis after mitral surgery for severe MR, and its association with LA fibrosis.
Does interferon beta-1a impact pure-tone hearing sensitivity among individuals with multiple sclerosis?
The Journal of neuroscience nursing : journal of the American Association of Neuroscience Nurses, 2014

Previous studies reported that particular types of interferon medications might contribute to hearing loss in some patients. The package insert included in the original Food and Drug Administration application for intramuscular interferon beta-1a (Avonex) stated that some patients in the treatment group reported decreased hearing sensitivity.
BRAIN NETWORK CONNECTIVITY FROM MATCHING CORTICAL FEATURE DENSITIES.
Proceedings. IEEE International Symposium on Biomedical Imaging, 2020

We present a new method for constructing structural inference brain networks from functional measures of cortical features. Instead of averaging vertex-wise cortical features, we propose the use of full functions of spatial densities of measures such as thickness and use two dimensional pairwise correlations between regions to construct population networks. We show increased within group correlations for both healthy controls and toddlers with prenatal alcohol exposure compared to the existing mean-based correlation approach. Further, we also show significant differences in brain connectivity between the healthy controls and the exposed group.
New 2013 incidence peak in childhood narcolepsy: more than vaccination?
Sleep, 2021

Increased incidence rates of narcolepsy type-1 (NT1) have been reported worldwide after the 2009-2010 H1N1 influenza pandemic (pH1N1). While some European countries found an association between the NT1 incidence increase and the H1N1 vaccination Pandemrix, reports from Asian countries suggested the H1N1 virus itself to be linked to the increased NT1 incidence. Using robust data-driven modeling approaches, that is, locally estimated scatterplot smoothing methods, we analyzed the number of de novo NT1 cases (n = 508) in the last two decades using the European Narcolepsy Network database. We confirmed the peak of NT1 incidence in 2010, that is, 2.54-fold (95% confidence interval [CI]: [2.11, 3.19]) increase in NT1 onset following 2009-2010 pH1N1. This peak in 2010 was found in both childhood NT1 (2.75-fold increase, 95% CI: [1.95, 4.69]) and adulthood NT1 (2.43-fold increase, 95% CI: [2.05, 2.97]). In addition, we identified a new peak in 2013 that is age-specific for children/adolescents (i.e. 2.09-fold increase, 95% CI: [1.52, 3.32]). Most of these children/adolescents were HLA DQB1*06:02 positive and showed a subacute disease onset consistent with an immune-mediated type of narcolepsy. The new 2013 incidence peak is likely not related to Pandemrix as it was not used after 2010. Our results suggest that the increased NT1 incidence after 2009-2010 pH1N1 is not unique and our study provides an opportunity to develop new hypotheses, for example, considering other (influenza) viruses or epidemiological events to further investigate the pathophysiology of immune-mediated narcolepsy.
Maternal DHA supplementation influences sex-specific disruption of placental gene expression following early prenatal stress.
Biology of sex differences, 2021

Early life adversity is widely recognized as a key risk factor for early developmental perturbations and contributes to the presentation of neuropsychiatric disorders in adulthood. Neurodevelopmental disorders exhibit a strong sex bias in susceptibility, presentation, onset, and severity, although the underlying mechanisms conferring vulnerability are not well understood. Environmental perturbations during pregnancy, such as malnutrition or stress, have been associated with sex-specific reprogramming that contribute to increased disease risk in adulthood, whereby stress and nutritional insufficiency may be additive and further exacerbate poor offspring outcomes. To determine whether maternal supplementation of docosahexanoic acid (DHA) exerts an effect on offspring outcome following exposure to early prenatal stress (EPS), dams were fed a purified 10:1 omega-6/omega-3 diet supplemented with either 1.0% preformed DHA/kg feed weight (DHA-enriched) or no additional DHA (denoted as the control diet, CTL). Dams were administered chronic variable stress during the first week of pregnancy (embryonic day, E0.5-7.5), and developmental milestones were assessed at E 12.5. Exposure to early prenatal stress (EPS) decreased placenta and embryo weight in males, but not females, exposed to the CTL diet. DHA enrichment reversed the sex-specific decrease in placenta and embryo weight following EPS. Early prenatal exposure upregulated expression of genes associated with oxygen and nutrient transport, including hypoxia inducible factor 3α (HIF3α), peroxisome proliferator-activated receptor alpha (PPARα), and insulin-like growth binding factor 1 (IGFBP1), in the placenta of CTL diet males exposed to EPS. DHA enrichment in EPS-exposed animals abrogated the male-specific upregulation of PPARα, HIF3α, and IGFBP1. Taken together, these studies suggest that maternal dietary DHA enrichment may buffer against maternal stress programming of sex-specific outcomes during early development.
Exploring a Cost-Efficient Model for Predicting Cerebral Aβ Burden Using MRI and Neuropsychological Markers in the ADNI-2 Cohort.
Journal of personalized medicine, 2020

Many studies have focused on the early detection of Alzheimer's disease (AD). Cerebral amyloid beta (Aβ) is a hallmark of AD and can be observed in vivo via positron emission tomography imaging using an amyloid tracer or cerebrospinal fluid assessment. However, these methods are expensive. The current study aimed to identify and compare the ability of magnetic resonance imaging (MRI) markers and neuropsychological markers to predict cerebral Aβ status in an AD cohort using machine learning (ML) approaches. The prediction ability of candidate markers for cerebral Aβ status was examined by analyzing 724 participants from the ADNI-2 cohort. Demographic variables, structural MRI markers, and neuropsychological test scores were used as input in several ML algorithms to predict cerebral Aβ positivity. Out of five combinations of candidate markers, neuropsychological markers with demographics showed the most cost-efficient result. The selected model could distinguish abnormal levels of Aβ with a prediction ability of 0.85, which is the same as that for MRI-based models. In this study, we identified the prediction ability of MRI markers using ML approaches and showed that the neuropsychological model with demographics can predict Aβ positivity, suggesting a more cost-efficient method for detecting cerebral Aβ status compared to MRI markers.
Impact of non-CNS childhood cancer on resting-state connectivity and its association with cognition.
Brain and behavior, 2021

Non-central nervous system cancer in childhood (non-CNS CC) and its treatments pose a major threat to brain development, with implications for functional networks. Structural and functional alterations might underlie the cognitive late-effects identified in survivors of non-CNS CC. The present study evaluated resting-state functional networks and their associations with cognition in a mixed sample of non-CNS CC survivors (i.e., leukemia, lymphoma, and other non-CNS solid tumors).
Erratum to: A spectrum of intracranial vascular high-flow arteriovenous shunts in RASA1 mutations.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2016

Erratum to: Childs Nerv Syst DOI 10.1007/s00381-015-2940-y. Unfortunately, one of the authors' name was misspelled in the original publication of this article. Instead of Micheal Söderman, it should have been Michael Söderman.
Neuroscience: Reevaluating the Role of Orbitofrontal Cortex.
Current biology : CB, 2019

A new optogenetic lesion study shows that the orbitofrontal cortex is essential for integrating information about recent rewards - which may either increase or decrease demand for more - with learned preferences to drive behavior.
Self-reported alteration of sense of smell or taste in patients with COVID-19: a systematic review and meta-analysis on 3563 patients.
Rhinology, 2020

Emerging reports suggest that new onset of smell or taste loss are potential early clinical markers of SARS-CoV-2 infection, but it remains unclear as to what extent. Therefore, the purpose of this study is to systematically assess the prevalence of self-reported altered sense of smell or taste in patients with confirmed SARS-CoV-2 infection, overcoming the limitations of individual studies by meta-analysis of pooled data.
Intact tactile detection yet biased tactile localization in a hand-centered frame of reference: Evidence from a dissociation.
Neuropsychologia, 2020

We examined the performance of an individual with subcortical damage, but an intact somatosensory thalamocortical pathway, to examine the functional architecture of tactile detection and tactile localization processes. Consistent with the intact somatosensory thalamocortical pathway, tactile detection on the contralesional hand was well within the normal range. Despite intact detection, the individual demonstrated substantial localization biases. Across all localization experiments, he consistently localized tactile stimuli to the left side in space relative to the long axis of his hand. This was observed when the contralesional hand was palm up, palm down, rotated 90° relative to the trunk, and when making verbal responses. Furthermore, control experiments demonstrated that this response pattern was unlikely a motor response error. These findings indicate that tactile localization on the body is influenced by proprioceptive information specifically in a hand-centered frame of reference. Furthermore, this also provides evidence that aspects of tactile localization are mediated by pathways outside of the primary somatosensory thalamocortical pathway.
Quantitative Third Harmonic Generation Microscopy for Assessment of Glioma in Human Brain Tissue.
Advanced science (Weinheim, Baden-Wurttemberg, Germany), 2019

Distinguishing tumors from normal brain cells is important but challenging in glioma surgery due to the lack of clear interfaces between the two. The ability of label-free third harmonic generation (THG) microscopy in combination with automated image analysis to quantitatively detect glioma infiltration in fresh, unprocessed tissue in real time is assessed. The THG images reveal increased cellularity in grades II-IV glioma samples from 23 patients, as confirmed by subsequent hematoxylin and eosin histology. An automated image quantification workflow is presented for quantitative assessment of the imaged cellularity as a reflection of the degree of glioma invasion. The cellularity is validated in three ways: 1) Quantitative comparison of THG imaging with fluorescence microscopy of nucleus-stained samples demonstrates that THG reflects the true tissue cellularity. 2) Thresholding of THG cellularity differentiates normal brain from glioma infiltration, with 96.6% sensitivity and 95.5% specificity, in nearly perfect (93%) agreement with pathologists. 3) In one patient, a good correlation between THG cellularity and preoperative magnetic resonance and positron emission tomography imaging is demonstrated. In conclusion, quantitative real-time THG microscopy accurately assesses glioma infiltration in ex vivo human brain samples, and therefore holds strong potential for improving the accuracy of surgical resection.
Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia.
The Journal of clinical investigation, 2021

Dystonia is a debilitating hyperkinetic movement disorder, which can be transmitted as a monogenic trait. Here, we describe homozygous frameshift, nonsense, and missense variants in TSPOAP1, which encodes the active-zone RIM-binding protein 1 (RIMBP1), as a genetic cause of autosomal recessive dystonia in 7 subjects from 3 unrelated families. Subjects carrying loss-of-function variants presented with juvenile-onset progressive generalized dystonia, associated with intellectual disability and cerebellar atrophy. Conversely, subjects carrying a pathogenic missense variant (p.Gly1808Ser) presented with isolated adult-onset focal dystonia. In mice, complete loss of RIMBP1, known to reduce neurotransmission, led to motor abnormalities reminiscent of dystonia, decreased Purkinje cell dendritic arborization, and reduced numbers of cerebellar synapses. In vitro analysis of the p.Gly1808Ser variant showed larger spike-evoked calcium transients and enhanced neurotransmission, suggesting that RIMBP1-linked dystonia can be caused by either reduced or enhanced rates of spike-evoked release in relevant neural networks. Our findings establish a direct link between dysfunction of the presynaptic active zone and dystonia and highlight the critical role played by well-balanced neurotransmission in motor control and disease pathogenesis.
Primary Central Nervous System Lymphoma Presenting as Multifocal Brain Abscesses.
Cureus, 2020

A previously well female presented with a history of progressive functional decline. She had a known history of generalized seropositive myasthenia gravis on long-term mycophenolate mofetil and pyridostigmine. MRI of her brain reported multiple cerebral abscesses based on radiological features. The patient was commenced on intravenous antibiotics, but there was no clinical or radiological response to treatment. Decision was made for a stereotactic biopsy. Intraoperative tissue cultures were negative for infection. However, histology reported B-cell lymphoma with morphological features changes typically seen in corticosteroid-treated lymphoma - an unexpected finding as no steroids were administered as part of her treatment. Owing to the unusual diagnosis, the case is presented in corroboration with current literature.
A Previously Unreported Variant of a Thoracic Vertebra.
Cureus, 2017

Pathology associated with anomalous transverse processes is uncommon and usually involves elongated C7 transverse processes in the so-called cervical rib syndrome. We report a single adult thoracic vertebra found to have duplicated transverse processes on the left side. We believe this to be the first report of a duplicated transverse process in man. The clinician and anatomist who view osteological material or imaging should consider this an extremely rare anatomical variation of the thoracic spine.
Effects of cognitive behavioral therapy for patients with rheumatoid arthritis: a systematic review and meta-analysis.
Psychology, health & medicine, 2020

This study aimed to assess the effects of cognitive behavioral therapy on the psychological and physiological health of rheumatoid arthritis patients. An extensive literature search was conducted, using the PubMed, Web of Science, Cochrane Library, Embase, CNKI Scholar, WanFang, and VIP databases, from inception to December2018. The quality of the studies was evaluated by 2 independent authors, according to the basic criteria provided by the Cochrane Handbook for evaluating randomized trials. Meta-analysis was performed with Review Manager 5.3. Six randomized controlled trials met the inclusion criteria of the current study. Using standard mean differences (SMD) and 95% confidence intervals (CI), our results showed that cognitive behavioral therapy could significantly reduce levels of anxiety (SMD = -0.30, 95% CI [-0.52, -0.09], P= 0.005) and depression (SMD = -0.48, 95% CI [-0.70, -0.27], P< 0.00001), and relieve fatigue symptoms (SMD = -0.35, 95% CI [-0.60, -0.10], P= 0.006) in rheumatoid arthritis patients.This is the first known assessment of the efficacy of cognitive behavioral therapy on rheumatoid arthritis patients using meta-analysis. Large-scale randomized controlled trials need to be implemented to further explore this issue.
Semi-automated three-dimensional reconstructions of individual neurons reveal cell type-specific circuits in cortex.
Communicative & integrative biology, 2011

Despite a long history of anatomical mapping of neuronal networks, we are only beginning to understand the detailed three-dimensional (3D) organization of the cortical micro-circuitry. This is in part due to the lack of complete reconstructions of individual cortical neurons. Morphological studies are either performed on incomplete cells in vitro, or when performed in vivo, lack the necessary cellular resolution. We recently reconstructed the in vivo axonal and dendritic morphology of two types of L(ayer) 5 neurons from vibrissal cortex. The 3D profiles of short-range as well as longrange projections indicate that L5 slender-tufted and L5 thick-tufted neurons represent very different building blocks of the cortical circuitry. In this addendum to Oberlaender et al. (PNAS 2011), we motivate our technical approach and the advancements this may give in reconstructing the cortical micro-circuitry.
Affective evaluation of food images according to stimulus and subject characteristics.
Journal of human nutrition and dietetics : the official journal of the British Dietetic Association, 2018

The food-rich environment in which we live makes the regulation of food choices a very complex phenomenon determined by many factors, as well as their interactions. Much evidence suggests that the sensory perception of food can be considered as a central factor affecting individual food choices. Despite this, the approaches used to study the various food aspects usually do not distinguish between different types of food.