rudyvdbrink/CitationDatabase huggingface dataset:
'More than a box of puzzles': Understanding the parental experience of having a child with a rare genetic condition".
European journal of medical genetics, 2021

Chromosomal microarray (CMA) testing has been adopted as the first-tier diagnostic test for developmental disabilities. However, determining the clinical significance of the results is often complex. This qualitative study seeks to explore parental interpretation, adaption and coping in the context of ambiguous rare genetic findings in order to support parental adjustment and wellbeing.
Brain and art: illustrations of the cerebral convolutions. A review.
Folia morphologica, 2014

Aesthetics and functional significance of the cerebral cortical relief gave us the idea to find out how often the convolutions are presented in fine art, and in which techniques, conceptual meaning and pathophysiological aspect.
The association between emotional dysregulation and REM sleep features in insomnia disorder.
Brain and cognition, 2020

Rapid Eye Movement (REM) sleep is involved in nightly emotional processing; therefore, its disruption might be associated with an impaired ability of emotional regulation during daytime. Accordingly, the aim of the present study was to evaluate the presence of emotional dysregulation in insomnia patients and to test its correlation with REM sleep features. Forty-six subjects (23 insomnia patients and 23 healthy controls) were enrolled. All subjects underwent an assessment for the evaluation of emotion dysregulation (Difficulties in Emotion Regulation Scale, DERS), sleep quality, insomnia severity, excessive daytime sleepiness, worry, rumination, depressive and anxious symptomatology. Insomnia patients underwent a nocturnal polysomnographic recording to characterize sleep macrostructure and REM sleep microstructure variables. Insomnia patients reported increased values of emotional dysregulation. REM sleep percentage and REM sleep latency significantly correlated with DERS total score, and with the subscales "Lack of Confidence in Emotional Regulation Skills", "Difficulties in Behavioral Control" and "Difficulty in recognizing emotions". Furthermore, positive correlations between REM arousal index and emotion dysregulation were found, whereas REM density negatively correlated with DERS. Our results suggest the presence of a relationship between REM sleep and emotional regulation in insomnia patients.
Abnormal Cortico-Basal Ganglia Neurotransmission in a Mouse Model of l-DOPA-Induced Dyskinesia.
The Journal of neuroscience : the official journal of the Society for Neuroscience, 2021

l-3,4-dihydroxyphenylalanine (l-DOPA) is an effective treatment for Parkinson's disease (PD); however, long-term treatment induces l-DOPA-induced dyskinesia (LID). To elucidate its pathophysiology, we developed a mouse model of LID by daily administration of l-DOPA to PD male ICR mice treated with 6-hydroxydopamine (6-OHDA), and recorded the spontaneous and cortically evoked neuronal activity in the external segment of the globus pallidus (GPe) and substantia nigra pars reticulata (SNr), the connecting and output nuclei of the basal ganglia, respectively, in awake conditions. Spontaneous firing rates of GPe neurons were decreased in the dyskinesia-off state (≥24 h after l-DOPA injection) and increased in the dyskinesia-on state (20-100 min after l-DOPA injection while showing dyskinesia), while those of SNr neurons showed no significant changes. GPe and SNr neurons showed bursting activity and low-frequency oscillation in the PD, dyskinesia-off, and dyskinesia-on states. In the GPe, cortically evoked late excitation was increased in the PD and dyskinesia-off states but decreased in the dyskinesia-on state. In the SNr, cortically evoked inhibition was largely suppressed, and monophasic excitation became dominant in the PD state. Chronic l-DOPA treatment partially recovered inhibition and suppressed late excitation in the dyskinesia-off state. In the dyskinesia-on state, inhibition was further enhanced, and late excitation was largely suppressed. Cortically evoked inhibition and late excitation in the SNr are mediated by the cortico-striato-SNr
Is There a 'Social' Brain? Implementations and Algorithms.
Trends in cognitive sciences, 2020

A fundamental question in psychology and neuroscience is the extent to which cognitive and neural processes are specialised for social behaviour, or are shared with other 'non-social' cognitive, perceptual, and motor faculties. Here we apply the influential framework of Marr (1982) across research in humans, monkeys, and rodents to propose that information processing can be understood as 'social' or 'non-social' at different levels. We argue that processes can be socially specialised at the implementational and/or the algorithmic level, and that changing the goal of social behaviour can also change social specificity. This framework could provide important new insights into the nature of social behaviour across species, facilitate greater integration, and inspire novel theoretical and empirical approaches.
Headache secondary to an unusual Valsalva manoeuvre in a migrainous patient with cacosmia.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2012

We present the case of a 48-year old female patient with a history of migraine without aura, who also reported a headache triggered by a Valsalva manoeuvre, peculiarly performed with her head bent forward below her knees. By this position, she could obtain temporary relief from a persistent cacosmia of unknown etiology that had developed about 20 years earlier. A possible pathogenic mechanism for this headache is proposed.
The diversity of synaptotagmin isoforms.
Current opinion in neurobiology, 2020

The synaptotagmin family of molecules is known for regulating calcium-dependent membrane fusion events. Mice and humans express 17 synaptotagmin isoforms, where most studies have focused on isoforms 1, 2, and 7, which are involved in synaptic vesicle exocytosis. Recent work has highlighted how brain function relies on additional isoforms, with roles in postsynaptic receptor endocytosis, vesicle trafficking, membrane repair, synaptic plasticity, and protection against neurodegeneration, for example, in addition to the traditional concept of synaptotagmin-mediated neurotransmitter release - in neurons as well as glia, and at different timepoints. In fact, it is not uncommon for the same isoform to feature several splice isoforms, form homo- and heterodimers, and function in different subcellular locations and cell types. This review aims to highlight the diversity of synaptotagmins, offers a concise summary of key findings on all isoforms, and discusses different ways of grouping these.
Functional recovery in multiple sclerosis patients undergoing rehabilitation programs is associated with plasma levels of hemostasis inhibitors.
Multiple sclerosis and related disorders, 2020

Increasing evidence for contribution of hemostasis components in multiple sclerosis (MS) has been reported. Hemostasis protein inhibitors display key regulatory roles, extending to regulation of innate immune response and inflammation, and promotion of blood-brain barrier integrity. Whereas the effects on hemostasis of exercise and rehabilitation strategies have been extensively investigated, relationships between MS rehabilitation strategies and hemostasis have not been previously reported.
14,15-Epoxyeicosatrienoic Acid Alleviates Pathology in a Mouse Model of Alzheimer's Disease.
The Journal of neuroscience : the official journal of the Society for Neuroscience, 2020

Alzheimer's disease (AD) is the leading cause of late-onset dementia, and there exists an unmet medical need for effective treatments for AD. The accumulation of neurotoxic amyloid-β (Aβ) plaques contributes to the pathophysiology of AD.
Osteoglycin, a novel coordinator of bone and glucose homeostasis.
Molecular metabolism, 2018

The skeleton, which is strongly controlled by endocrine factors, has recently been shown to also play an active endocrine role itself, specifically influencing energy metabolism. However, much less is known about this role. Therefore, we sought to identify novel endocrine factors involved in the regulation of both bone mass and whole-body glucose homeostasis.
A mad mayor of Fremantle: the mysterious illness of Edward Davies.
Australasian psychiatry : bulletin of Royal Australian and New Zealand College of Psychiatrists, 2011

The aim of this paper is to illustrate how a person's standing in a small, close-knit community can distort local medical and legal attitudes to their diagnosis. We examined various historical texts describing Edward Davies (1855?1904), Mayor of Fremantle, and the medical, legal and family responses to his illness.
A functional context for heterogeneity of the circadian clock in cells.
PLoS biology, 2020

Characterization of circadian systems at the organism level-a top-down approach-has led to definition of unifying properties, a hallmark of the science of chronobiology. The next challenge is to use a bottom-up approach to show how the molecular workings of the cellular circadian clock work as building blocks of those properties. We review new studies, including a recently published PLOS Biology paper by Nikhil and colleagues, that show how programmed but also stochastic generation of variation in cellular circadian period explain important adaptive features of entrained circadian phase.
Trait Autism is a Better Predictor of Empathy than Alexithymia.
Journal of autism and developmental disorders, 2019

It has been proposed that atypical empathy in autism spectrum disorder (ASD) is due to co-occurring alexithymia. However, difficulties measuring empathy and statistical issues in previous research raise questions about the role of alexithymia in empathic processing in ASD. Addressing these issues, we compared the associations of trait alexithymia and autism with empathy in large samples from the general population. Multiple regression analyses showed that both trait autism and alexithymia were uniquely associated with atypical empathy, but dominance analysis found that trait autism, compared to alexithymia, was a more important predictor of atypical cognitive, affective, and overall empathy. Together, these findings indicate that atypical empathy in ASD is not simply due to co-occurring alexithymia.
Transcondylar fossa approach for the large, high-flow, and diffuse arteriovenous malformation of the posterior fossa.
Neurosurgical focus: Video, 2021

Posterior fossa high-grade arteriovenous malformations (AVMs) are challenging diseases. This video presents the treatment of a patient with a diffuse, high-flow AVM of the posterior fossa on the tonsil and cerebellopontine angle (4 cm in diameter) and deep draining veins. The patient had an intraventricular and cerebellar hemorrhage. After conservative treatment, total resection of the AVM was performed with embolization and surgery. The authors resected the nidus after the endovascular embolization, on the same day. The postoperative course was uneventful, and the patient was discharged with almost full recovery. The video can be found here: https://youtu.be/logCCn3uKUc.
Management of Type II Diabetes by Modulating the Modifiable Risk Factors: A Future Roadmap for Prevention of Cerebrovascular Complications.
Annals of neurosciences, 2020

Indian Diabetes Risk Score (IDRS) is a screening tool for quantifying the risk of diabetes mellitus (DM) development in the Indian population. The present study has evaluated the level of risk of developing DM in Chandigarh and Panchkula based on the IDRS score.
Prolonged elevation of serum neurofilament light after concussion in male Australian football players.
Biomarker research, 2021

Biomarkers that can objectively guide the diagnosis of sports-related concussion, and consequent return-to-play decisions, are urgently needed. In this study, we aimed to determine the temporal profile and diagnostic ability of serum levels of neurofilament light (NfL), ubiquitin carboxy-terminal hydrolase L1 (UCHL1), glial fibrillary acidic protein (GFAP), and tau in concussed male and female Australian footballers.
Investigation of pituitary adenylate cyclase activating polypeptide (PACAP) in human amniotic fluid samples.
Reproductive biology, 2020

Pituitary adenylate cyclase activating polypeptide (PACAP) is a neuropeptide acting as a hormone, a neuromodulator, a neurotransmitter, a trophic factor and is involved in a variety of developmental and regenerative processes. PACAP is present in several human tissues and biological fluids. In many pathological conditions, changes in PACAP levels have been described to reflect disease progression, therefore PACAP has diagnostic value as a potential biomarker. Since PACAP has been shown to play an important role in reproductive physiology and development, it was of interest to examine whether this neuropeptide occurs in the human amniotic fluid. Amniotic fluid samples were collected between the 15-19
Facilitated glutamate release at Schaffer collateral to CA1 synapses has access to an exclusive population of NMDA receptors.
Brain research, 2015

In order to explore short-term facilitation of the Schaffer collateral to CA1 synapse in mouse hippocampal brain slices, we measured the time course of the decay of the peak amplitude of successive EPSCs during progressive MK-801-dependent block (PMDB) of NMDAR responses to paired (R1 and R2) stimuli. We made the unexpected observation that the R2 response exhibited a slower PMDB decay constant than that of the R1 response. This indicated that the facilitated R2 response engages release sites with NMDARs that are protected from opening and consequent MK-801 block during the basal R1 response. We then utilized conditions that affect synaptic glutamate distribution to dissect the components of the distinct PMDB decay constants of the first and second of paired pulses. While extra-synaptic NMDARs and glutamate transporters appear to play only minor roles in the differences of the PMDB decay constant, we showed important roles for the R1 response itself and for glutamate diffusion in determining the PMDB decay constant of R2. We used a simple computational model with realistic parameters that allowed us to predict the time course of R2 decay based on the R1 decay time course.
Cumulative Cardiovascular Disease Risk and Triglycerides Differentially Relate to Subdomains of Executive Function in Bipolar Disorder; preliminary findings.
Journal of affective disorders, 2021

Cardiovascular disease is disproportionally prevalent in bipolar disorder (BD) and has been linked to cognition in preliminary studies. Herein we evaluate the association between known risk factors for cardiovascular disease and executive function in BD patients compared to healthy controls.
Scientific progress and clinical uncertainty.
European heart journal supplements : journal of the European Society of Cardiology, 2020

In the path underway towards Precision Medicine, two areas are in rapid development: genetics and artificial intelligence. In the genetic area, there are two current problems, both of the highest social importance. The first concerns the project, emerging in some countries, of systematic sequencing of the genome in the whole population. The problem is that reading the genome is very complex, requires specific knowledge, and the medical class is now unprepared. The second problem concerns the now achieved ability to modify the genome, which might be applied in the treatment of genetic diseases previously considered incurable. The techniques that can be used today are extremely delicate and expose to high risks. Artificial intelligence (AI) is a branch of neuroscience ('computational neuroscience') and advanced computer science which aims to apply the operational models of the human mind with the mnemonic and calculating power of advanced cybernetics. It is applied by conventional smartphone 'apps' to the most advanced computers used in various areas of diagnostic and prognostic medicine, image reading, big data management, setting of new pharmacological molecules, up to completely different applications, such as spoken language, automatic driving of vehicles, insurance plans, financial strategies, etc. Of course, with enormously different degrees of complexity. Will the doctors' role survive?
Seasonality and season of birth effect in the UK Biobank cohort.
American journal of human biology : the official journal of the Human Biology Council, 2020

Humans live in environments that reduce the impact of seasonal cues. However, studies suggest that many aspects of human biology, such as birth, metabolism, health, and death are still annually rhythmic.
Effects of the lockdown on the mental health of the general population during the COVID-19 pandemic in Italy: Results from the COMET collaborative network.
European psychiatry : the journal of the Association of European Psychiatrists, 2020

The Coronavirus disease 2019 (COVID-19) pandemic is an unprecedented traumatic event influencing the healthcare, economic, and social welfare systems worldwide. In order to slow the infection rates, lockdown has been implemented almost everywhere. Italy, one of the countries most severely affected, entered the "lockdown" on March 8, 2020.
Progress and Future Goals for Neuroscience.
Neuron, 2018

Scientists reflect on how neuroscience has quickly progressed and continues to open new avenues for great discovery with improvements in imaging, interrogating, and interfacing with the nervous system of experimental model systems and humans.
Pairing words with syntactic frames: syntax, semantics, and count-mass usage.
Journal of psycholinguistic research, 2011

Two experiments examined English speakers' choices of count or mass compatible frames for nouns varying in imageability (concrete, abstract) and noun class (count, mass). Pairing preferences with equative (much/many) and non-equative (less/fewer) constructions were compared for groups of teenagers, young adults, and older adults. Deviations from normative usage were, for all ages, larger for count than for mass nouns, for the non-equative than for the equative construction, and for abstract count than for concrete count nouns. These results indicate that mass syntax is not a developmental default, support proposals that mass syntax is more flexible than count syntax, verify the non-prescriptive use of less with count nouns, and extend the interaction of syntax and semantics in noun classification to older ages, with older adults showing a reduced reliance on semantics. Knowledge of frame compatibility and knowledge of noun class are also shown to be largely independent.
Perceptions of Electronic Health Records Within Otolaryngology Residents Compared to Practicing Otolaryngologists.
The Laryngoscope, 2018

This study investigated the perceived impact of electronic health records (EHR) on otolaryngology residents with regard to education, patient care, and workflow, and then compared the trends with those of practicing otolaryngologists.
How Much We Think of Ourselves and How Little We Think of Others: An Investigation of the Neuronal Signature of Self-Consciousness between Different Personality Traits through an Event-Related Potential Study.
The Malaysian journal of medical sciences : MJMS, 2016

Previous studies have revealed that self-related tasks (items) receive more attention than non-self-related, and that they elicit event-related potential (ERP) components with larger amplitudes. Since personality has been reported as one of the biological correlates influencing these components, as well as our behavioural differences, it is important to examine how it affects our self-consciousness in relation to tasks of varied relevance and the neurological basis.
Vascular spinal cord obstruction associated with superior vena cava syndrome: A case report and literature review.
Medicine, 2017

Superior vena cava syndrome (SVCS) is the obstruction of blood flow through the SVC, causing complete or partial blockade of the collateral circulation of returning venous blood. SVCS is frequently presented with facial, neck, trunk, and upper limbs swelling and so on. However, to the best of our knowledge, the obstruction of the venous return in the spinal veins is rarely a manifestation of SVCS.
Efficacy and Patient's Acceptance of Alternative Methods for Caries Removal-a Systematic Review.
Journal of clinical medicine, 2020

Dental caries is a disease of dental hard tissues, considered the most common non-communicable disease worldwide. Conventional treatments for caries removal are often associated with pain and fear, so different therapeutic approaches have been developed towards more conservative and pleasant treatments. This systematic review aimed to assess the efficacy and patient's acceptance of alternative methods for caries removal compared to conventional methods. The Cochrane Library, Embase, Medline/Pubmed, Web of Science, and Clinical Trials databases were searched. Clinical trials of primary dental caries treated with alternative methods were included. The last search was performed on 5 August 2020. The Population, Intervention, Comparison, and Outcome (PICO) strategy was followed. Thirty-seven clinical trials were included, reporting caries removal using alternative (chemomechanical-Brix 3000, Carie-care, Carisolv and Papacarie, laser-Er:YAG (Erbium-doped Yttrium Aluminium Garnet) and Er,Cr:YSGG (Erbium, Chromium-doped Yttrium, Scandium, Gallium and Garnet), and a system combining air and sono-abrasion-Vector
Direct and Indirect Effects of Maternal, Paternal, and Offspring Genotypes: Trio-GCTA.
Behavior genetics, 2021

Indirect genetic effects from relatives may result in misleading quantifications of heritability, but can also be of interest in their own right. In this paper we propose Trio-GCTA, a model for separating direct and indirect genetic effects when genome-wide single nucleotide polymorphism data have been collected from parent-offspring trios. The model is applicable to phenotypes obtained from any of the family members. We discuss appropriate parameter interpretations and apply the method to three exemplar phenotypes: offspring birth weight, maternal relationship satisfaction, and paternal body-mass index, using real data from the Norwegian Mother, Father and Child Cohort Study (MoBa).
Dual antiplatelet therapy does not improve outcomes after aneurysmal subarachnoid hemorrhage compared with aspirin monotherapy.
Clinical neurology and neurosurgery, 2020

The pathophysiology of delayed cerebral ischemia (DCI) after aneurysmal subarachnoid hemorrhage (aSAH) may include platelet activation and microthrombi formation. Antiplatelet therapy may reduce the incidence of DCI and improve clinical outcomes after aSAH. This study compared outcomes among aSAH patients receiving aspirin monotherapy versus dual antiplatelet therapy (DAPT).
Ibalizumab.
Current opinion in HIV and AIDS, 2018

Antiretroviral options for patients infected with multiclass resistant HIV-1 warrant the development of new agents with unique mechanisms of action and modes of delivery. Here we review one such agent, ibalizumab, a parenteral CD4 postattachment inhibitor that has demonstrated efficacy as part of combination antiretroviral therapy in the treatment of HIV-1.
Early access to rehabilitation for paediatric patients with traumatic brain injury.
European journal of trauma and emergency surgery : official publication of the European Trauma Society, 2012

Paediatric major trauma centres are being developed in the UK. As a paediatric unit within a large regional hospital that is co-located with a neurosciences centre, we conducted this study to establish what inpatient rehabilitation service is offered to patients with traumatic brain injury (TBI). It is known that early rehabilitation improves prognosis.