rudyvdbrink/CitationDatabase huggingface dataset:
Molecular, physiological and behavioral characterization of the heterozygous Df[h15q13]/+ mouse model associated with the human 15q13.3 microdeletion syndrome.
Brain research, 2020

The human 15q13.3 microdeletion syndrome (DS) is caused by a heterozygous microdeletion (MD) affecting six genes: FAN1; MTMR10; TRPM1; KLF13; OTUD7A; and CHRNA7. Carriers are at risk for intellectual disability, epilepsy, autism spectrum disorder, and schizophrenia. Here we used the Df[h15q13]/+ mouse model with an orthologous deletion to further characterize molecular, neurophysiological, and behavioral parameters that are relevant to the 15q13.3 DS. First, we verified the expression and distribution of the α7 nicotinic acetylcholine receptor (nAChR), a gene product of the CHRNA7, in cortical and subcortical areas. Results revealed similar mRNA distribution pattern in wildtype (WT) and heterozygous (Het) mice, with about half the number of α7 nAChR binding sites in mutants. Hippocampal recordings showed similar input/output responses of field excitatory post-synaptic potentials and theta-burst induced long-term potentiation in WT and Het mice. Het males exhibited impaired spatial learning acquisition in the Barnes Maze. Indicative of increased seizure susceptibility, Het mice developed secondary seizures after 6-Hz corneal stimulation, and had significantly increased sensitivity to the chemoconvulsant pentylenetetrazol resulting in increased spiking in hippocampal EEG recordings. Basal mRNA expression of brain derived neurotrophic factor and activity regulated immediate early genes (c-fos, Arc, Erg-1 and Npas4) during adolescence, a critical period of brain maturation, was unaffected by genotype. Thus, the MD did not show gross neuroanatomical, molecular, and neurophysiological abnormalities despite deficits in spatial learning and increased susceptibility to seizures. Altogether, our results verify the phenotypic profile of the heterozygous Df[h15q13]/+ mouse model and underscore its translational relevance for human 15q13.3 DS.
Generation of a novel monoclonal antibody that recognizes the alpha (α)-amidated isoform of a valine residue.
BMC neuroscience, 2015

Alpha (α)-amidation of peptides is a mechanism required for the conversion of prohormones into functional peptide sequences that display biological activities, receptor recognition and signal transduction on target cells. Alpha (α)-amidation occurs in almost all species and amino acids identified in nature. C-terminal valine amide neuropeptides constitute the smallest group of functional peptide compounds identified in neurosecretory structures in vertebrate and invertebrate species.
Higher Executive Control Network Coherence Buffers Against Puberty-Related Increases in Internalizing Symptoms During the COVID-19 Pandemic.
Biological psychiatry. Cognitive neuroscience and neuroimaging, 2021

Early pubertal maturation has been posited to be a biopsychosocial risk factor for the onset of internalizing psychopathology in adolescence; further, early-maturing youths exhibit heightened reactivity to stressful events. School closures and enforced social distancing, as well as health and financial uncertainties, during the COVID-19 pandemic are expected to adversely affect mental health in youths, particularly adolescents who are already at risk for experiencing emotional difficulties. The executive control network (ECN) supports cognitive processes required to successfully navigate novel challenges and regulate emotions in stressful contexts.
In the line-up: deleted genes associated with DiGeorge/22q11.2 deletion syndrome: are they all suspects?
Journal of neurodevelopmental disorders, 2019

22q11.2 deletion syndrome (22q11DS), a copy number variation (CNV) disorder, occurs in approximately 1:4000 live births due to a heterozygous microdeletion at position 11.2 (proximal) on the q arm of human chromosome 22 (hChr22) (McDonald-McGinn and Sullivan, Medicine 90:1-18, 2011). This disorder was known as DiGeorge syndrome, Velo-cardio-facial syndrome (VCFS) or conotruncal anomaly face syndrome (CTAF) based upon diagnostic cardiovascular, pharyngeal, and craniofacial anomalies (McDonald-McGinn and Sullivan, Medicine 90:1-18, 2011; Burn et al., J Med Genet 30:822-4, 1993) before this phenotypic spectrum was associated with 22q11.2 CNVs. Subsequently, 22q11.2 deletion emerged as a major genomic lesion associated with vulnerability for several clinically defined behavioral deficits common to a number of neurodevelopmental disorders (Fernandez et al., Principles of Developmental Genetics, 2015; Robin and Shprintzen, J Pediatr 147:90-6, 2005; Schneider et al., Am J Psychiatry 171:627-39, 2014).
Dystrophin deficiency leads to dysfunctional glutamate clearance in iPSC derived astrocytes.
Translational psychiatry, 2019

Duchenne muscular dystrophy (DMD) results, beside muscle degeneration in cognitive defects. As neuronal function is supported by astrocytes, which express dystrophin, we hypothesized that loss of dystrophin from DMD astrocytes might contribute to these cognitive defects. We generated cortical neuronal and astrocytic progeny from induced pluripotent stem cells (PSC) from six DMD subjects carrying different mutations and several unaffected PSC lines. DMD astrocytes displayed cytoskeletal abnormalities, defects in Ca
Integration and differentiation of hippocampal memory traces.
Neuroscience and biobehavioral reviews, 2020

Prevailing theories of hippocampal function argue that memories are rapidly encoded by non-overlapping memory traces. Concurrently, the hippocampus has been argued to integrate across related experiences, enabling generalization. The cognitive neuroscience of memory has been transformed by the recent proliferation of studies using pattern similarity analyses to investigate the neural substrates of memory in humans, marking an exciting and significant advance in our understanding of population-level neural representations. We provide an overview of hippocampal pattern similarity studies published to date. By considering the effects of stimulus type, time-scale, and hippocampal subregions, we account for both increases and decreases in representational similarity. We argue that hippocampal representations for related memories are not fixed. Instead, the evoked representations are flexibly modulated, depending on whether the current goal is to extract generalities or to reinstate specific experiences. In the first comprehensive review of hippocampal pattern similarity analyses, we provide insight into the mechanisms of memory representation and implications for the interpretation of pattern similarity more generally.
State anxiety biases estimates of uncertainty and impairs reward learning in volatile environments.
NeuroImage, 2021

Clinical and subclinical (trait) anxiety impairs decision making and interferes with learning. Less understood are the effects of temporary anxious states on learning and decision making in healthy populations, and whether these can serve as a model for clinical anxiety. Here we test whether anxious states in healthy individuals elicit a pattern of aberrant behavioural, neural, and physiological responses comparable with those found in anxiety disorders-particularly when processing uncertainty in unstable environments. In our study, both a state anxious and a control group learned probabilistic stimulus-outcome mappings in a volatile task environment while we recorded their electrophysiological (EEG) signals. By using a hierarchical Bayesian model of inference and learning, we assessed the effect of state anxiety on Bayesian belief updating with a focus on uncertainty estimates. State anxiety was associated with an underestimation of environmental uncertainty, and informational uncertainty about the reward tendency. Anxious individuals' beliefs about reward contingencies were more precise (had smaller uncertainty) and thus more resistant to updating, ultimately leading to impaired reward-based learning. State anxiety was also associated with greater uncertainty about volatility. We interpret this pattern as evidence that state anxious individuals are less tolerant to informational uncertainty about the contingencies governing their environment and more willing to be uncertain about the level of stability of the world itself. Further, we tracked the neural representation of belief update signals in the trial-by-trial EEG amplitudes. In control participants, lower-level precision-weighted prediction errors (pwPEs) about reward tendencies were represented in the ERP signals across central and parietal electrodes peaking at 496 ms, overlapping with the late P300 in classical ERP analysis. The state anxiety group did not exhibit a significant representation of low-level pwPEs, and there were no significant differences between the groups. Smaller variance in low-level pwPE about reward tendencies in state anxiety could partially account for the null results. Expanding previous computational work on trait anxiety, our findings establish that temporary anxious states in healthy individuals impair reward-based learning in volatile environments, primarily through changes in uncertainty estimates, which play a central role in current Bayesian accounts of perceptual inference and learning.
Interhemispheric approach to tumors of the posterior gyrus cinguli.
Clinical neurology and neurosurgery, 2013

Posterior gyrus cinguli tumors are a well-defined group of tumors that pose considerable challenges in creating surgical access and manipulating adjacent eloquent areas (visual and motor). Here we report our 5-year experience in the surgical treatment of these tumors and describe tumor characteristics, surgical steps, critical aspects, and prognostic factors.
Multiple System Atrophy - Cerebellar Type: Clinical Picture and Treatment of an Often-Overlooked Disorder.
Cureus, 2020

Multiple system atrophy (MSA) is a rare, progressive, fatal, neurodegenerative disorder. There are two main types: the parkinsonian type (MSA-P) and cerebellar type (MSA-C). The disease usually presents with genitourinary dysfunction, orthostatic hypotension, and rapid eye movement (REM) sleep behavior disorder. Patients rapidly develop balance, speech, and coordination abnormalities. We present a review of the clinical picture and the actualized treatment modalities of the MSA cerebellar type. For the study methods, a PubMed search was done using the following medical subject headings (MeSH) terms: "multiple system atrophy/therapy". Inclusion criteria included studies in English, full papers, human studies, and publications in the last 30 years. Case reports and series were excluded. A total of 157 papers were extracted after applying the inclusion and exclusion criteria, and 41 papers were included for the discussion of this review. This review underlines the therapeutic strategies as well as the clinical picture of multiple system atrophy, and how MSA-C and MSA-P differ from each other. We discussed this review in four topics: ataxia, autonomic dysfunction (neurogenic orthostatic hypotension and urinary disorders), parkinsonism, and REM sleep disorder. In conclusion, the treatment of MSA-C is mainly symptomatic; there are not many studies on MSA-C. The ataxic component and fewer parkinsonian symptoms are the main difference of MSA-C as opposed to MSA-P.
Epstein-Barr virus infection-Related hemophagocytic lymphohistiocytosis.
Indian journal of critical care medicine : peer-reviewed, official publication of Indian Society of Critical Care Medicine, 2015

We report a case of 27-year-old female diagnosed with hemophagocytic lymphohistiocytosis (HLH) following a recent Epstein-Barr virus (EBV) infection. A known case of relapsing remitting multiple sclerosis on corticosteroids for last 6 months presented to the critical care unit with fever, maculopapular rash and difficulty in breathing. A rapid and correct diagnosis with the precise treatment led to complete recovery of this patient. The HLH is a rare complication of primary EBV infection.
The miRNA Content of Exosomes Released from the Glioma Microenvironment Can Affect Malignant Progression.
Biomedicines, 2020

Low-grade gliomas (LGG) are infiltrative primary brain tumors that in 70% of the cases undergo anaplastic transformation, deeply affecting prognosis. However, the timing of progression is heterogeneous. Recently, the tumor microenvironment (TME) has gained much attention either as prognostic factor or therapeutic target. Through the release of extracellular vesicles, the TME contributes to tumor progression by transferring bioactive molecules such as microRNA. The aim of the study was to take advantage of glioma-associated stem cells (GASC), an in vitro model of the glioma microenvironment endowed with a prognostic significance, and their released exosomes, to investigate the possible role of exosome miRNAs in favoring the anaplastic transformation of LGG. Therefore, by deep sequencing, we analyzed and compared the miRNA profile of GASC and exosomes obtained from LGG patients characterized by different prognosis. Results showed that exosomes presented a different signature, when compared to their cellular counterpart and that, although sharing several miRNAs, exosomes of patients with a bad prognosis, selectively expressed some miRNAs possibly responsible for the more aggressive phenotype. These findings get insights into the value of TME and exosomes as potential biomarkers for precision medicine approaches aimed at improving LGG prognostic stratification and therapeutic strategies.
Wide temporal horns are associated with cognitive dysfunction, as well as impaired gait and incontinence.
Scientific reports, 2020

The association between morphology of the brain and symptoms of suspected idiopathic normal pressure hydrocephalus (iNPH) is largely unknown. We investigated how ventricular expansion (width of the temporal horns [TH], callosal angle [CA], and Evans' index [EI]) related to symptom severity in suspected iNPH. Participants (n = 168; 74.9 years ± SD 6.7; 55% females) from the general population underwent neurological examination, computed tomography, and neuropsychological testing. Multiple linear regression analysis revealed that wide TH was independently associated with all examined iNPH symptoms (p < 0.01) except for fine-motor performance, whereas a narrow CA only was associated to specific motor and cognitive functions (p < 0.05). TH and EI correlated significantly with incontinence (r
Head Injuries in Homer's Iliad.
World neurosurgery, 2020

The Iliad is an epic poem chronicling the journey of Achilles in the Trojan War. The poem is one of the earliest sources of written literature in the Western canon. It is not a medical text, but the many and varied descriptions of injuries and their consequences mean that it is an important source for examining the earliest notions of anatomy and knowledge of the pathologies that result from trauma. Head injuries feature prominently in the text and represent written accounts of neurotrauma from nearly 3000 years ago. Previous work on the poem has suggested an awareness of neurological concepts such as nystagmus, syncope, and pupillary dilatation after trauma. In this paper, we identify and categorize all of the head injuries detailed in the text and examine these to identify concepts of functional neuroanatomy that are revealed by the descriptions. We identify and discuss 2 detailed descriptions of head injury, suggesting an awareness of decerebrate posturing after brainstem injury and cerebrospinal fluid leakage following a basal skull fracture.
Comprehensive geriatric assessment in older adults with cancer: Recommendations by the Italian Society of Geriatrics and Gerontology (SIGG).
European journal of clinical investigation, 2021

Optimizing the approach to older adults with cancer is now a priority given the increasing frequency of new cancer diagnoses that are made in the older population. The comprehensive geriatric assessment (CGA) represents the gold-standard for (1) defining prognosis and ability to withstand cancer treatments, (2) exploring the multiple aspects that define the complexity of frail older persons, and (3) designing person-tailored interventions.
Establishing Central Sensitization-Related Symptom Severity Subgroups: A Multicountry Study Using the Central Sensitization Inventory.
Pain medicine (Malden, Mass.), 2020

The goal of this study was to identify central sensitization-related symptom severity subgroups in a large multicountry sample composed of patients with chronic pain and pain-free individuals using the Central Sensitization Inventory (CSI).
Impact of a Model Used to Simulate Chronic Socio-Environmental Stressors Encountered during Spaceflight on Murine Intestinal Microbiota.
International journal of molecular sciences, 2020

During deep-space travels, crewmembers face various physical and psychosocial stressors that could alter gut microbiota composition. Since it is well known that intestinal dysbiosis is involved in the onset or exacerbation of several disorders, the aim of this study was to evaluate changes in intestinal microbiota in a murine model used to mimic chronic psychosocial stressors encountered during a long-term space mission. We demonstrate that 3 weeks of exposure to this model (called CUMS for Chronic Unpredictable Mild Stress) induce significant change in intracaecal β-diversity characterized by an important increase of the
Neurooncology: 2021 update.
Free neuropathology, 2021

This article briefly presents 10 topics that were selected by the author as 'top 10 discoveries' published in 2020 in the broader field of neurooncological pathology including neurosciences as well as clinical neurooncology of interest for neurooncological pathology. The selected topics concern new information on the molecular characteristics of gliomas (infratentorial IDH-mutant diffuse astrocytomas, pediatric low-grade gliomas, infant-type high-grade gliomas, hypermutation in gliomas), the immunological aspects of the brain tumor microenvironment (TME), the impact of the TME on preclinical glioma models, and the importance of lymphatic drainage on brain tumor surveillance. Furthermore, important papers were published on two 'new' genetic syndromes predisposing to medulloblastoma, on liquid biopsy-based diagnosis of central nervous system (CNS) tumors, and on the 'microbiome' in glioblastomas (and other cancers). In the last part of this review, a dozen of papers are given as examples of papers that did not make it to the top 10 list of the author, underscoring the subjective component in the selection process. Acknowledging that 2020 will be remembered as the year in which the world changed because of the COVID-19 pandemic, some of the consequences of this pandemic for neurooncological pathology are briefly discussed as well. Hopefully, this review forms an incentive to appreciate the wealth of information provided by the papers that were used as building blocks for the present manuscript.
How Much Money Do You Need to Feel Taller? Impact of Money on Perception of Body Height.
International journal of environmental research and public health, 2021

Body height is considered to be one of the most important reproductive signals. However, there are only a few publications on what influences the sense of whether we assess ourselves as tall or short. In the present contribution, the psychological impact of money on the evaluation of a person's own height was tested. We performed two experimental studies in which the respondents had contact with different amounts of money and were asked to evaluate their body height with the use of a laser pointer. The first experiment (
Genetic, cellular, and connectomic characterization of the brain regions commonly plagued by glioma.
Brain : a journal of neurology, 2020

For decades, it has been known that gliomas follow a non-random spatial distribution, appearing more often in some brain regions (e.g. the insula) compared to others (e.g. the occipital lobe). A better understanding of the localization patterns of gliomas could provide clues to the origins of these types of tumours, and consequently inform treatment targets. Following hypotheses derived from prior research into neuropsychiatric disease and cancer, gliomas may be expected to localize to brain regions characterized by functional hubness, stem-like cells, and transcription of genetic drivers of gliomagenesis. We combined neuroimaging data from 335 adult patients with high- and low-grade glioma to form a replicable tumour frequency map. Using this map, we demonstrated that glioma frequency is elevated in association cortex and correlated with multiple graph-theoretical metrics of high functional connectedness. Brain regions populated with putative cells of origin for glioma, neural stem cells and oligodendrocyte precursor cells, exhibited a high glioma frequency. Leveraging a human brain atlas of post-mortem gene expression, we found that gliomas were localized to brain regions enriched with expression of genes associated with chromatin organization and synaptic signalling. A set of glioma proto-oncogenes was enriched among the transcriptomic correlates of glioma distribution. Finally, a regression model incorporating connectomic, cellular, and genetic factors explained 58% of the variance in glioma frequency. These results add to previous literature reporting the vulnerability of hub regions to neurological disease, as well as provide support for cancer stem cell theories of glioma. Our findings illustrate how factors of diverse scale, from genetic to connectomic, can independently influence the anatomic localization of brain dysfunction.
Importance of the "thinking through other minds" process explored through motor correlates of motivated social interactions.
The Behavioral and brain sciences, 2020

We wanted to gather recent results supporting the idea of the central role of sharing agency in socioaffective and motivational information processing. Here, we want to support the idea that this process is quite arbitrary, early in the temporal chain of processes and not only influence the psychological, but also the motor correlates of socioaffective information processes.
The neurotoxic effect of isoflurane on age-defined neurons generated from tertiary dentate matrix in mice.
Brain and behavior, 2021

Recent animal studies showed that isoflurane exposure may lead to the disturbance of hippocampal neurogenesis and later cognitive impairment. However, much less is known about the effect of isoflurane exposure on the neurons generated form tertiary dentate matrix, even though a great increase of granule cell population during the infantile period is principally derived from this area.
Sacral Neuromodulation for Lower Urinary Tract and Bowel Dysfunction in Animal Models: A Systematic Review With Focus on Stimulation Parameter Selection.
Neuromodulation : journal of the International Neuromodulation Society, 2020

Conventional sacral neuromodulation (SNM) has shown to be an effective treatment for lower urinary tract and bowel dysfunction, but improvements of clinical outcome are still feasible. Currently, in preclinical research, new stimulation parameters are being investigated to achieve better and longer effects. This systematic review summarizes the status of SNM stimulation parameters and its effect on urinary tract and bowel dysfunction in preclinical research.