rudyvdbrink/CitationDatabase huggingface dataset:
Young-onset parkinsonism in a Hong Kong Chinese man with adult-onset Hallervorden-Spatz syndrome.
The International journal of neuroscience, 2011

Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of disorders varied in genetic etiologies, clinical presentations, and radiological features. NBIA is an iron homeostasis disorder with progressive iron accumulation in the central nervous systems and is clinically characterized by extrapyramidal movement abnormalities, retinal pigmentary changes, and cognitive impairment. Panthothenate kinase-associated neurodegeneration (Hallervorden-Spatz disease) is the commonest disorder of NBIA with a prevalence of one-three per million. Clinically, it is classified into early-onset childhood, atypical late-onset, and adult-onset type. Adult-onset type is rarer. We report the first case of adult-onset panthothenate kinase-associated neurodegeneration in Hong Kong in a 28-year-old Chinese man who presented with pure young-onset parkinsonism. Magnetic resonance imaging (MRI) of the brain showed the presence of eye-of-the-tiger sign. Two compound heterozygous mutations PANK2 NM_153638.2: c.445G > T; NP_705902.2: p.E149X and PANK2 NM_153638.2: c.1133A > G; NP_705902.2: p.D378G were detected. Parkinsonism per se is a very heterogeneous phenotypic group. In view of the readily available genetic analysis of PANK2, panthothenate kinase-associated neurodegeneration should be considered in adult patients with young-onset parkinsonism with or without the eye-of-the-tiger sign. The exact diagnosis offers a different management approach and genetic counseling. NBIA is likely under- or misdiagnosed in Hong Kong Chinese.
Decreased consumption of sweet fluids in μ opioid receptor knockout mice: a microstructural analysis of licking behavior.
Psychopharmacology, 2013

Evidence suggests that the palatability of food (i.e., the hedonic impact produced by its sensory features) can promote feeding and may underlie compulsive eating, leading to obesity. Pharmacological studies implicate opioid transmission in the hedonic control of feeding, though these studies often rely on agents lacking specificity for particular opioid receptors.
The neural correlates of movement intentions: A pilot study comparing hypnotic and simulated paralysis.
Consciousness and cognition, 2015

The distinct feeling of wanting to act and thereby causing our own actions is crucial to our self-perception as free human agents. Disturbances of the link between intention and action occur in several disorders. Little is known, however, about the neural correlates of wanting or intending to act. To investigate these for simple voluntary movements, we used a paradigm involving hypnotic paralysis and functional magnetic resonance imaging. Eight healthy women were instructed to sequentially perform left and right hand movements during a normal condition, as well as during simulated weakness, simulated paralysis and hypnotic paralysis of the right hand. Right frontopolar cortex was selectively hypoactivated for attempted right hand movement during simulated paralysis while it was active in all other conditions. Since simulated paralysis was the only condition lacking an intention to move, the activation in frontopolar cortex might be related to the intention or volition to move.
Hybrid Electrical and Optical Neural Interfaces.
Journal of micromechanics and microengineering : structures, devices, and systems, 2021

Neural interfaces bridge the nervous system and the outside world by recording and stimulating neurons. Combining electrical and optical modalities in a single, hybrid neural interface system could lead to complementary and powerful new ways to explore the brain. It has gained robust and exciting momentum recently in neuroscience and neural engineering research. Here, we review developments in the past several years aiming to achieve such hybrid electrical and optical microsystem platforms. Specifically, we cover three major categories of technological advances: transparent neuroelectrodes, optical neural fibers with electrodes, and neural probes/grids integrating electrodes and microscale light-emitting diodes. We discuss examples of these probes tailored to combine electrophysiological recording with optical imaging or optical neural stimulation of the brain and possible directions of future innovation.
Gold nanocrystal-mediated sliding of doublet DNA origami filaments.
Nature communications, 2018

Sliding is one of the fundamental mechanical movements in machinery. In macroscopic systems, double-rack pinion machines employ gears to slide two linear tracks along opposite directions. In microscopic systems, kinesin-5 proteins crosslink and slide apart antiparallel microtubules, promoting spindle bipolarity and elongation during mitosis. Here we demonstrate an artificial nanoscopic analog, in which gold nanocrystals can mediate coordinated sliding of two antiparallel DNA origami filaments powered by DNA fuels. Stepwise and reversible sliding along opposite directions is in situ monitored and confirmed using fluorescence spectroscopy. A theoretical model including different energy transfer mechanisms is developed to understand the observed fluorescence dynamics. We further show that such sliding can also take place in the presence of multiple DNA sidelocks that are introduced to inhibit the relative movements. Our work enriches the toolbox of DNA-based nanomachinery, taking one step further toward the vision of molecular nanofactories.
Lesion of infralimbic cortex occludes stress effects on retrieval of extinction but not fear conditioning.
Neurobiology of learning and memory, 2010

Chronic stress produces dendritic retraction in medial prefrontal cortex and impairs retrieval of extinction of conditioned fear, a behavior mediated by the infralimbic region (IL) of medial prefrontal cortex. To test the hypothesis that stress-induced changes in IL contribute to the stress-induced impairment in extinction retrieval, we performed an occlusion experiment in which we assessed the effects of stress alone, lesion of IL alone, and the combined effects of stress and lesion on extinction retrieval. If IL is the substrate upon which stress acts to produce deficits in extinction retrieval, then prior removal of IL should prevent the effect of stress on extinction retrieval. Rats received either sham or ibotenic acid lesions of IL. Rats in each group then remained unstressed or underwent daily restraint stress for 1week. Following the final day of restraint, rats received five habituation trials to a 30-s tone, followed by seven pairings of the tone with a 500-ms coterminating footshock. One hour later, rats received tone-alone extinction trials. On the following day, rats were given two extinction trials to test for extinction retrieval. Percent freezing was assessed throughout. Stress increased freezing during conditioning, and IL lesion did not block this effect. Either IL lesion alone or stress alone increased freezing on initial extinction trials. IL lesion did not attenuate the effect of stress during initial extinction. Similarly, IL lesion alone and stress alone produced deficits in extinction retrieval. However, stressed rats with IL lesions showed extinction retrieval comparable to that seen in unstressed, sham-lesioned rats. Thus, lesion of IL occluded the stress-induced impairment of extinction retrieval but failed to prevent the stress-induced facilitation of fear conditioning. This dissociation suggests that the effects of stress on these two aspects of emotion regulation are mediated at least in part by independent mechanisms, and that stress-induced changes in IL contribute to stress-induced deficits in extinction retrieval.
The Neuroethological Paradox of Animal Consciousness.
Trends in neurosciences, 2017

The more advanced our understanding of the brain of an animal is, the less likely that this animal is a conscious being. This provocative logical paradox is explained and analyzed, leading to the conclusion that to advance understanding of animal consciousness it is necessary to resolve first how our consciousness is produced by our brain.
Paradoxical Decision-Making: A Framework for Understanding Cognition in Parkinson's Disease.
Trends in neurosciences, 2018

People with Parkinson's disease (PD) show impaired decision-making when sensory and memory information must be combined. This recently identified impairment results from an inability to accumulate the proper amount of information needed to make a decision and appears to be independent of dopamine tone and reinforcement learning mechanisms. Although considerable work focuses on PD and decisions involving risk and reward, in this Opinion article we propose that the emerging findings in perceptual decision-making highlight the multisystem nature of PD, and that unraveling the neuronal circuits underlying perceptual decision-making impairment may help in understanding other cognitive impairments in people with PD. We also discuss how a decision-making framework may be extended to gain insights into mechanisms of motor impairments in PD.
Risk of spontaneous preterm birth in IVF-conceived twin pregnancies.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2019

To compare the mean transvaginal ultrasound (TVU) cervical length (CL) at midtrimester in screening for preterm birth in in vitro (IVF)-conceived twin pregnancies versus spontaneously-conceived twin pregnancies.
Attacking Heterogeneity in Schizophrenia by Deriving Clinical Subgroups From Widely Available Symptom Data.
Schizophrenia bulletin, 2018

Previous research has identified (1) a "deficit" subtype of schizophrenia characterized by enduring negative symptoms and diminished emotionality and (2) a "distress" subtype associated with high emotionality-including anxiety, depression, and stress sensitivity. Individuals in deficit and distress categories differ sharply in development, clinical course and behavior, and show distinct biological markers, perhaps signaling different etiologies. We tested whether deficit and distress subtypes would emerge from a simple but novel data-driven subgrouping analysis, based on Positive and Negative Syndrome Scale (PANSS) negative and distress symptom dimensions, and whether subgrouping was informative regarding other facets of behavior and brain function. PANSS data, and other assessments, were available for 549 people with schizophrenia diagnoses. Negative and distress symptom composite scores were used as indicators in 2-step cluster analyses, which divided the sample into low symptom (n = 301), distress (n = 121), and deficit (n = 127) subgroups. Relative to the low-symptom group, the deficit and distress subgroups had comparably higher total PANSS symptoms (Ps < .001) and were similarly functionally impaired (eg, global functioning [GAF] Ps < .001), but showed markedly different patterns on symptom, cognitive and personality variables, among others. Initial analyses of functional magnetic resonance imaging (fMRI) data from a 182-participant subset of the full sample also suggested distinct patterns of neural recruitment during working memory. The field seeks more neuroscience-based systems for classifying psychiatric conditions, but these are inescapably behavioral disorders. More effective parsing of clinical and behavioral traits could identify homogeneous target groups for further neural system and molecular studies, helping to integrate clinical and neuroscience approaches.
The promise of futility trials in neurological diseases.
Nature reviews. Neurology, 2015

Double-blinded randomized controlled trials (RCTs) have contributed much important evidence to guide treatment decisions in neurology. RCTs are relatively straightforward to conduct, provided that they investigate common diseases, have clearly defined outcome measures, and are of short duration. In neurology, however, many diseases are uncommon, have no consensus outcome measures, and develop over decades. Basic research into neurological diseases continues to identify candidate therapies faster than they can be tested for their clinical utility, leading to a 'translational gap'. Futility trials were initially developed in oncology to efficiently test candidate therapies in phase II trials. As single-arm unblinded studies, futility trials are relatively easy to conduct, and they generally require smaller sample sizes than RCTs. In this article, we discuss futility models, highlighting their advantages as well as challenges to their application in several neurological diseases, including Parkinson disease, stroke and multiple sclerosis.
Presynaptic kainate receptor-mediated facilitation of glutamate release involves Ca2+-calmodulin and PKA in cerebrocortical synaptosomes.
FEBS letters, 2013

We have explored the mechanisms involved in the facilitation of glutamate release mediated by the activation of kainate receptors (KARs) in the cortex using isolated nerve terminals (synaptosomes). Kainate (KA) produced an increase on glutamate release at 100 μM. The effect of KA was antagonized by NBQX (with AMPA receptors blocked by GYKI53655). This facilitation was suppressed by the inhibition of PKA activation by Rp-Br-cAMP and H-89. Moreover, the facilitation of glutamate release mediated by KAR requires the mobilization of intrasynaptosomal Ca(2+) stores and the formation of a Ca(2+)-calmodulin complex. We conclude that KARs present on presynaptic terminals in the neocortex mediate the facilitation of glutamate release through a mechanism involving an increase in cytosolic Ca(2+) to activate a Ca(2+)-calmodulin-AC/cAMP/PKA signaling cascade.
Subarachnoid hemorrhage in rats - Visualizing blood distribution in vivo using gadolinium-enhanced magnetic resonance imaging: Technical note.
Journal of neuroscience methods, 2019

The aims of this study were to assess the feasibility of magnetic resonance imaging (MRI) to track the in vivo distribution of autologous, injected blood in a subarachnoid hemorrhage model (SAH), and to evaluate whether this technique results in observable morphological detriment.
Evaluation of novel computerized tomography scoring systems in human traumatic brain injury: An observational, multicenter study.
PLoS medicine, 2017

Traumatic brain injury (TBI) is a major contributor to morbidity and mortality. Computerized tomography (CT) scanning of the brain is essential for diagnostic screening of intracranial injuries in need of neurosurgical intervention, but may also provide information concerning patient prognosis and enable baseline risk stratification in clinical trials. Novel CT scoring systems have been developed to improve current prognostic models, including the Stockholm and Helsinki CT scores, but so far have not been extensively validated. The primary aim of this study was to evaluate the Stockholm and Helsinki CT scores for predicting functional outcome, in comparison with the Rotterdam CT score and Marshall CT classification. The secondary aims were to assess which individual components of the CT scores best predict outcome and what additional prognostic value the CT scoring systems contribute to a clinical prognostic model.
Sensory neuropathic symptoms in idiopathic Parkinson's disease: prevalence and impact on quality of life.
Acta neurologica Belgica, 2018

Neuropathic symptoms are commonly reported in Parkinson's disease (PD), but robust data on the epidemiology of such symptoms are lacking. The present study sought to investigate the prevalence and determinants of peripheral sensory neuropathic symptoms (PSNS) in idiopathic PD (IPD) and ascertain the effects of such symptoms on the patients' quality of life (QoL).
Neonatal Fc receptor is involved in the protection of fibrinogen after its intake in peripheral blood mononuclear cells.
Journal of translational medicine, 2018

Fibrinogen is a central player in the blood coagulation cascade and one of the most abundant plasma proteins. This glycoprotein also triggers important events (e.g., cell spreading, the respiratory burst and degranulation) in neutrophil cells via a α
Psychological Well-Being of Mothers and Siblings in Families of Girls and Women with Rett Syndrome.
Journal of autism and developmental disorders, 2015

Few published studies have reported on the psychological well-being of family members of individuals with Rett syndrome (RTT). Eighty-seven mothers of girls and women with RTT completed a questionnaire survey about their daughters' behavioral phenotype, current health, and behavior problems, and their own and a sibling's well-being. Mothers reported increased anxiety but similar levels of depression when compared to a normative sample. Across all problem domains on the Strengths and Difficulties Questionnaire, child and adolescent siblings (n = 39) were reported by mothers to have fewer difficulties than a normative sample. The severity of their daughters' RTT behavioral phenotype predicted increased anxiety and stress for mothers. Increased RTT daughters' current health problems predicted more maternal perceptions of positive gain.
Early postmarket experience after US Food and Drug Administration approval with the Trevo device for thrombectomy for acute ischemic stroke.
Neurosurgery, 2014

TREVO 2 showed the Trevo stent retriever to be more successful for revascularization than Merci for acute stroke intervention in patients treated within 8 hours of symptom onset. These results led to US Food and Drug Administration approval of Trevo.
The perception of self in birds.
Neuroscience and biobehavioral reviews, 2016

The perception of self is an important topic in several disciplines such as ethology, behavioral ecology, psychology, developmental and cognitive neuroscience. Self-perception is investigated by experimentally exposing different species of animals to self-stimuli such as their own image, smell or vocalizations. Here we review more than one hundred studies using these methods in birds, a taxonomic group that exhibits a rich diversity regarding ecology and behavior. Exposure to self-image is the main method for studying self-recognition, while exposing birds to their own smell is generally used for the investigation of homing or odor-based kin discrimination. Self-produced vocalizations - especially in oscine songbirds - are used as stimuli for understanding the mechanisms of vocal coding/decoding both at the neural and at the behavioral levels. With this review, we highlight the necessity to study the perception of self in animals cross-modally and to consider the role of experience and development, aspects that can be easily monitored in captive populations of birds.
Longitudinal Study of Brain Asymmetries in Autism and Developmental Delays Aged 2-5 Years.
Neuroscience, 2020

Some previous studies have demonstrated atypical brain lateralization in autism spectrum disorder (ASD). However, most of these reports have focused on language-related asymmetries in adults, and the developmental trajectory of hemispheric asymmetries in the important phase that occurs at 2-5 years of age remains unclear. Thus, we used structural magnetic resonance imaging and diffusion tensor imaging (DTI) in a longitudinal study of grey matter (GM) asymmetries across all cortical parcellation units (PUs) and white matter (WM) lateralization across the WM skeleton using voxel-based morphometry and tract-based spatial statistics (TBSS) in 34 toddlers with ASD and a matched group of 26 toddlers with developmental delay (DD) at 2-3 years old and with follow-up at 4-5 years of age. We found the total brain volume and fractional anisotropy (FA) of WM was higher in the ASD group than in the DD group at baseline and 2 years later. The ASD and DD groups showed a rightward asymmetry in a large number of cortical PUs and in the WM skeleton at both time points. GM lateralization was associated with the social and communicative disturbances observed in ASD at baseline, while WM asymmetry was significantly related to social disturbances and repetitive behaviours seen at 4-5 years of age. In conclusion, both ASD and DD toddlers had widespread rightward asymmetry, and the patterns of lateralization were similar across the groups. GM and WM showed asynchronous development of hemispheric asymmetries at 2-5 years of age, and this lateralization was associated with ASD symptoms.
The endoscopic endonasal approach to repair of iatrogenic and noniatrogenic cerebrospinal fluid leaks and encephaloceles of the anterior cranial fossa.
World neurosurgery, 2014

The current approach for the diagnosis and repair of spontaneous and traumatic anterior skull-base defects is oulined, highlighting the controversies that exist in the field and describing the strategies required to access different segments of the anterior cranial fossa.
A disease-specific metabolic brain network associated with corticobasal degeneration.
Brain : a journal of neurology, 2014

Corticobasal degeneration is an uncommon parkinsonian variant condition that is diagnosed mainly on clinical examination. To facilitate the differential diagnosis of this disorder, we used metabolic brain imaging to characterize a specific network that can be used to discriminate corticobasal degeneration from other atypical parkinsonian syndromes. Ten non-demented patients (eight females/two males; age 73.9 ± 5.7 years) underwent metabolic brain imaging with (18)F-fluorodeoxyglucose positron emission tomography for atypical parkinsonism. These individuals were diagnosed clinically with probable corticobasal degeneration. This diagnosis was confirmed in the three subjects who additionally underwent post-mortem examination. Ten age-matched healthy subjects (five females/five males; age 71.7 ± 6.7 years) served as controls for the imaging studies. Spatial covariance analysis was applied to scan data from the combined group to identify a significant corticobasal degeneration-related metabolic pattern that discriminated (P < 0.001) the patients from the healthy control group. This pattern was characterized by bilateral, asymmetric metabolic reductions involving frontal and parietal cortex, thalamus, and caudate nucleus. These pattern-related changes were greater in magnitude in the cerebral hemisphere opposite the more clinically affected body side. The presence of this corticobasal degeneration-related metabolic topography was confirmed in two independent testing sets of patient and control scans, with elevated pattern expression (P < 0.001) in both disease groups relative to corresponding normal values. We next determined whether prospectively computed expression values for this pattern accurately discriminated corticobasal degeneration from multiple system atrophy and progressive supranuclear palsy (the two most common atypical parkinsonian syndromes) on a single case basis. Based upon this measure, corticobasal degeneration was successfully distinguished from multiple system atrophy (P < 0.001) but not progressive supranuclear palsy, presumably because of the overlap (∼ 24%) that existed between the corticobasal degeneration- and the progressive supranuclear palsy-related metabolic topographies. Nonetheless, excellent discrimination between these disease entities was achieved by computing hemispheric asymmetry scores for the corticobasal degeneration-related pattern on a prospective single scan basis. Indeed, a logistic algorithm based on the asymmetry scores combined with separately computed expression values for a previously validated progressive supranuclear palsy-related pattern provided excellent specificity (corticobasal degeneration: 92.7%; progressive supranuclear palsy: 94.1%) in classifying 58 testing subjects. In conclusion, corticobasal degeneration is associated with a reproducible disease-related metabolic covariance pattern that may help to distinguish this disorder from other atypical parkinsonian syndromes.