rudyvdbrink/CitationDatabase huggingface dataset:
A tale of two retinal domains: near-optimal sampling of achromatic contrasts in natural scenes through asymmetric photoreceptor distribution.
Neuron, 2013

For efficient coding, sensory systems need to adapt to the distribution of signals to which they are exposed. In vision, natural scenes above and below the horizon differ in the distribution of chromatic and achromatic features. Consequently, many species differentially sample light in the sky and on the ground using an asymmetric retinal arrangement of short- (S, "blue") and medium- (M, "green") wavelength-sensitive photoreceptor types. Here, we show that in mice this photoreceptor arrangement provides for near-optimal sampling of natural achromatic contrasts. Two-photon population imaging of light-driven calcium signals in the synaptic terminals of cone-photoreceptors expressing a calcium biosensor revealed that S, but not M cones, preferred dark over bright stimuli, in agreement with the predominance of dark contrasts in the sky but not on the ground. Therefore, the different cone types do not only form the basis of "color vision," but in addition represent distinct (achromatic) contrast-selective channels.
Deficits in memory-guided limb movements impair obstacle avoidance locomotion in Alzheimer's disease mouse model.
Scientific reports, 2014

Memory function deficits induced by Alzheimer's disease (AD) are believed to be one of the causes of an increased risk of tripping in patients. Working memory contributes to accurate stepping over obstacles during locomotion, and AD-induced deficits of this memory function may lead to an increased risk of contact with obstacles. We used the triple transgenic (3xTg) mice to examine the effects of memory deficits in terms of tripping and contact with obstacles. We found that the frequency of contact of the hindlimbs during an obstacle avoidance task increased significantly in 10-13 month-old 3xTg (Old-3xTg) mice compared with control mice. However, no changes in limb kinematics during unobstructed locomotion or successful obstacle avoidance locomotion were observed in the Old-3xTg mice. Furthermore, we found that memory-based movements in stepping over an obstacle were impaired in these mice. Our findings suggest that working memory deficits as a result of AD are associated with an increased risk of tripping during locomotion.
Cognitive impairment in paediatric multiple sclerosis patients is not related to cortical lesions.
Multiple sclerosis (Houndmills, Basingstoke, England), 2015

We investigated the contribution of cortical lesions to cognitive impairment in 41 paediatric MS patients. Thirteen (32%) paediatric MS patients were considered as cognitively impaired. T2-hyperintense and T1-hypointense white matter lesion volumes did not differ between cognitively impaired and cognitively preserved MS patients. Cortical lesions number, cortical lesions volume and grey matter volume did not differ between cognitively impaired and cognitively preserved patients, whereas white matter volume was significantly lower in cognitively impaired versus cognitively preserved MS patients (p=0.01). Contrary to adult MS, cortical lesions do not seem to contribute to cognitive impairment in paediatric MS patients, which is likely driven by white matter damage.
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.
Brain : a journal of neurology, 2017

Although mitochondrial disorders are clinically heterogeneous, they frequently involve the central nervous system and are among the most common neurogenetic disorders. Identifying the causal genes has benefited enormously from advances in high-throughput sequencing technologies; however, once the defect is known, researchers face the challenge of deciphering the underlying disease mechanism. Here we characterize large biallelic deletions in the region encoding the ATAD3C, ATAD3B and ATAD3A genes. Although high homology complicates genomic analysis of the ATAD3 defects, they can be identified by targeted analysis of standard single nucleotide polymorphism array and whole exome sequencing data. We report deletions that generate chimeric ATAD3B/ATAD3A fusion genes in individuals from four unrelated families with fatal congenital pontocerebellar hypoplasia, whereas a case with genomic rearrangements affecting the ATAD3C/ATAD3B genes on one allele and ATAD3B/ATAD3A genes on the other displays later-onset encephalopathy with cerebellar atrophy, ataxia and dystonia. Fibroblasts from affected individuals display mitochondrial DNA abnormalities, associated with multiple indicators of altered cholesterol metabolism. Moreover, drug-induced perturbations of cholesterol homeostasis cause mitochondrial DNA disorganization in control cells, while mitochondrial DNA aggregation in the genetic cholesterol trafficking disorder Niemann-Pick type C disease further corroborates the interdependence of mitochondrial DNA organization and cholesterol. These data demonstrate the integration of mitochondria in cellular cholesterol homeostasis, in which ATAD3 plays a critical role. The dual problem of perturbed cholesterol metabolism and mitochondrial dysfunction could be widespread in neurological and neurodegenerative diseases.
The neurobiology of amyotrophic lateral sclerosis.
The European journal of neuroscience, 2010

Amyotrophic lateral sclerosis is a degenerative disease affecting the motor neurons. In spite of our growing insights into its biology, it remains a lethal condition. The identification of the cause of several of the familial forms of ALS allowed generation of models to study this disease both in vitro and in vivo. Here, we summarize what is known about the pathogenic mechanisms of ALS induced by hereditary mutations, and attempt to identify the relevance of these findings for understanding the pathogenic mechanisms of the sporadic form of this disease.
Structural plasticity and reorganisation in chronic pain.
Nature reviews. Neuroscience, 2016

Chronic pain is not simply a temporal continuum of acute pain. Studies on functional plasticity in neural circuits of pain have provided mechanistic insights and linked various modulatory factors to a change in perception and behaviour. However, plasticity also occurs in the context of structural remodelling and reorganisation of synapses, cells and circuits, potentially contributing to the long-term nature of chronic pain. This Review discusses maladaptive structural plasticity in neural circuits of pain, spanning multiple anatomical and spatial scales in animal models and human patients, and addresses key questions on structure-function relationships.
The Hook Test Is More Accurate Than the Trampoline Test to Detect Foveal Tears of the Triangular Fibrocartilage Complex of the Wrist.
Arthroscopy : the journal of arthroscopic & related surgery : official publication of the Arthroscopy Association of North America and the International Arthroscopy Association, 2021

To evaluate the accuracy of the trampoline and hook tests, used in the arthroscopic assessment of triangular fibrocartilage complex (TFCC) tears compared with arthroscopic direct visualization of the radiocarpal joint (RCJ) and of the distal radial ulnar joint (DRUJ).
Is brain connectome research the future frontier for subjective cognitive decline? A systematic review.
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology, 2019

We performed a systematic literature review on Subjective Cognitive Decline (SCD) in order to examine whether the resemblance of brain connectome and functional connectivity (FC) alterations in SCD with respect to MCI, AD and HC can help us draw conclusions on the progression of SCD to more advanced stages of dementia.
Probing the Manipulated Neurochemical Drive in Alcohol Addiction and Novel Therapeutic Advancements.
ACS chemical neuroscience, 2020

Alcohol addiction is one of the highly prevalent neurological disorders and a major threat to public health in the 21st century. Alcohol addiction affects people from all age groups and often leads to other serious comorbidities. The pathophysiology of alcohol addiction involves imbalance between the excitatory and inhibitory neurotransmitters in the brain. These changes occur in various regions of the brain including reward circuit such as the ventral tegmental area (VTA), nucleus accumbens (NAc), and prefrontal cortex. In this review, we have discussed several neurochemical circuitries which get manipulated and maladapted during alcohol addiction. To date there is no effective therapeutic intervention in clinics devoid of side effects that can successfully treat the patients suffering from alcohol addiction. Understanding the neurobiological intricacies of alcohol addiction is critical for the development of novel anti-addiction therapeutics. Apart from this, we have also discussed the recent therapeutic milestones for the management of alcohol addiction including vasopressin receptors, corticotrophin-releasing factor, GABA receptors, glucocorticoid receptors, brain stimulation and mindfulness-oriented recovery enhancement.
Neurosteroid replacement therapy for catamenial epilepsy.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 2009

Perimenstrual catamenial epilepsy, the cyclical occurrence of seizure exacerbations near the time of menstruation, affects a high proportion of women of reproductive age with drug-refractory epilepsy. Enhanced seizure susceptibility in perimenstrual catamenial epilepsy is believed to be due to the withdrawal of the progesterone-derived GABA(A) receptor modulating neurosteroid allopregnanolone as a result of the fall in progesterone at the time of menstruation. Studies in a rat pseudopregnancy model of catamenial epilepsy indicate that after neurosteroid withdrawal there is enhanced susceptibility to chemoconvulsant seizures. There is also a transitory increase in the frequency of spontaneous seizures in epileptic rats that had experienced pilocarpine-induced status epilepticus. In the catamenial epilepsy model, there is a marked reduction in the antiseizure potency of anticonvulsant drugs, including benzodiazepines and valproate, but an increase in the anticonvulsant potency and protective index of neurosteroids such as allopregnanolone and the neurosteroid analog ganaxolone. The enhanced seizure susceptibility and benzodiazepine-resistance subsequent to neurosteroid withdrawal may be related to reduced expression and altered kinetics of synaptic GABA(A) receptors and increased expression of GABA(A) receptor subunits (such as alpha4) that confer benzodiazepine insensitivity. The enhanced potency of neurosteroids may be due to a relative increase after neurosteroid withdrawal in the expression of neurosteroid-sensitive delta-subunit-containing perisynaptic or extrasynaptic GABA(A) receptors. Positive allosteric modulatory neurosteroids and synthetic analogs such as ganaxolone may be administered to prevent catamenial seizure exacerbations, in what we call neurosteroid replacement therapy.
Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.
Molecular genetics and metabolism, 2017

Aicardi Goutières Syndrome (AGS) is a heritable interferonopathy associated with systemic autoinflammation causing interferon (IFN) elevation, central nervous system calcifications, leukodystrophy and severe neurologic sequelae. An infant with TREX1 mutations was recently found to have abnormal C26:0 lysophosphatidylcholine (C26:0 Lyso-PC) in a newborn screening platform for X-linked adrenoleukodystrophy, prompting analysis of this analyte in retrospectively collected samples from individuals affected by AGS.
Resting EEG theta power correlates with cognitive performance in healthy older adults.
Psychophysiology, 2011

We address the degree to which resting EEG bandpower is associated with cognitive performance in 73 healthy older adults (aged 56-70). Relative theta (4-6.5 Hz) power was significantly correlated with immediate and delayed verbal recall, attention, and executive function measures. Relative delta and alpha power and peak alpha frequency did not correlate with any cognitive measures. These data indicate that high resting theta power in healthy older adults is associated with better cognitive function and may be a marker of healthy neurocognitive aging. Comparison of these with previous findings suggests that two forms of theta-frequency oscillations may exist; one indicative of healthy neurocognitive function and the other, EEG/alpha slowing linked to (future) substantial cognitive decline. Future EEG investigations of cognitive aging or decline should analyze both relative theta power and degree of EEG/alpha slowing so as not to confound these.
Pathology in primary progressive aphasia syndromes.
Current neurology and neuroscience reports, 2014

'Primary progressive aphasia' (PPA) refers to core linguistic disorders caused by neurodegenerative disease. Three main PPA variants are recognized: nonfluent/agrammatic, semantic and logopenic. Correctly classifying patients during life according to the underlying histopathology will become increasingly important as cause-specific treatments become available. This article reviews clinical and histopathological studies of PPA, with particular reference to updated PPA classifications. Currently, one-to-one relationships do not exist within PPA subtypes. The semantic variant has the best correspondence between the clinical syndrome and the underlying pathological cause and the logopenic variant the worst correspondence. The use of future biomarkers should facilitate accurate clinicopathological correlation of patients during life.
Peptidylglycine α-amidating monooxygenase heterozygosity alters brain copper handling with region specificity.
Journal of neurochemistry, 2013

Copper (Cu), an essential trace element present throughout the mammalian nervous system, is crucial for normal synaptic function. Neuronal handling of Cu is poorly understood. We studied the localization and expression of Atp7a, the major intracellular Cu transporter in the brain, and its relation to peptidylglycine α-amidating monooxygenase (PAM), an essential cuproenzyme and regulator of Cu homeostasis in neuroendocrine cells. Based on biochemical fractionation and immunostaining of dissociated neurons, Atp7a was enriched in post-synaptic vesicular fractions. Cu followed a similar pattern, with ~ 20% of total Cu in synaptosomes. A mouse model heterozygous for the Pam gene (PAM+/−) was selectively Cu deficient in the amygdala. As in cortex and hippocampus, Atp7a and PAM expression overlap in the amygdala, with highest expression in interneurons. Messenger RNA levels of Atox-1 and Atp7a, which deliver Cu to the secretory pathway, were reduced in the amygdala but not in the hippocampus in PAM+/− mice, GABAB receptor mRNA levels were similarly affected. Consistent with Cu deficiency, dopamine β-monooxygenase function was impaired as evidenced by elevated dopamine metabolites in the amygdala, but not in the hippocampus, of PAM+/− mice. These alterations in Cu delivery to the secretory pathway in the PAM+/− amygdala may contribute to the physiological and behavioral deficits observed. Atp7a, a Cu-transporting P-type ATPase, is localized to the trans-Golgi network and to vesicles distributed throughout the dendritic arbor. Tissue-specific alterations in Atp7a expression were found in mice heterozygous for peptidylglycine α-amidating monooxygenase (PAM), an essential neuropeptide-synthesizing cuproenzyme. Atp7a and PAM are highly expressed in amygdalar interneurons. Reduced amygdalar expression of Atox-1 and Atp7a in PAM heterozygous mice may lead to reduced synaptic Cu levels, contributing to the behavioral and neurochemical alterations seen in these mice.
Targeting the UPR transcription factor XBP1 protects against Huntington's disease through the regulation of FoxO1 and autophagy.
Human molecular genetics, 2012

Mutations leading to expansion of a poly-glutamine track in Huntingtin (Htt) cause Huntington's disease (HD). Signs of endoplasmic reticulum (ER) stress have been recently reported in animal models of HD, associated with the activation of the unfolded protein response (UPR). Here we have investigated the functional contribution of ER stress to HD by targeting the expression of two main UPR transcription factors, XBP1 and ATF4 (activating transcription factor 4), in full-length mutant Huntingtin (mHtt) transgenic mice. XBP1-deficient mice were more resistant to developing disease features, associated with improved neuronal survival and motor performance, and a drastic decrease in mHtt levels. The protective effects of XBP1 deficiency were associated with enhanced macroautophagy in both cellular and animal models of HD. In contrast, ATF4 deficiency did not alter mHtt levels. Although, XBP1 mRNA splicing was observed in the striatum of HD transgenic brains, no changes in the levels of classical ER stress markers were detected in symptomatic animals. At the mechanistic level, we observed that XBP1 deficiency led to augmented expression of Forkhead box O1 (FoxO1), a key transcription factor regulating autophagy in neurons. In agreement with this finding, ectopic expression of FoxO1 enhanced autophagy and mHtt clearance in vitro. Our results provide strong evidence supporting an involvement of XBP1 in HD pathogenesis probably due to an ER stress-independent mechanism involving the control of FoxO1 and autophagy levels.
Neuropsychological outcomes of children with Optic Pathway Glioma.
Scientific reports, 2020

Optic Pathway Glioma (OPG) is a relatively common brain tumour in childhood; however, there is scarce understanding of neuropsychological sequelae in these survivors. In this study, 12 children with diagnosis of OPG before 6 years of age received a comprehensive standardised assessment of visual perception, general intelligence and academic achievement, using adjustments to visual materials of the tests, to examine the extent of concurrent impairment in these functional domains. Information about vision, clinical and socio-demographic factors were extracted from medical records to assess the associations of neuropsychological outcomes with clinical and socio-demographic factors. Children with OPG exhibited high within-patient variability and moderate group-level impairment compared to test norms. Visual perception was the most impaired domain, while scholastic progression was age-appropriate overall. For cognition, core verbal and visuo-spatial reasoning skills were intact, whereas deficits were found in working memory and processing speed. Visual function was associated with tasks that rely on visual input. Children with OPG are at moderate risk of neuropsychological impairment, especially for visual perception and cognitive proficiency. Future research should elucidate further the relative contribution of vision loss and neurofibromatosis type 1 co-diagnosis within a large sample.
Right-hemispheric Dominance in Self-body Recognition is Altered in Left-handed Individuals.
Neuroscience, 2020

Visual self-face and proprioceptive postural recognition predominantly activate the right inferior frontoparietal cortices in human right-handers at the population level. In the present study, prompted by the finding that left-handedness may alter lateralized cortical organization for language, sensory-motor, and cognitive functions observed in right-handers, we investigated individual variations in right-dominant use of the cortices in 50 right-handers and 50 left-handers during self-body recognition (self-face and proprioceptive) tasks. We also investigated possible between-tasks differences in this right-dominant use, and possible atypical left-right reversed lateralization (right-dominance for language and left-dominance for self-body recognition) in left-handers. We measured brain activity using functional magnetic resonance imaging while participants performed a proprioceptive postural recognition task (experiencing illusory movements of the left and the right hands), a visual self-face recognition (self-other distinction) task, and a language (verb generation) task. To evaluate hemispheric dominance, we computed individual lateralization indices for the inferior frontoparietal activities in these tasks. Left-handedness altered the right-hemispheric dominance that was observed in the majority of right-handed participants in both self-body recognition tasks. In the left-handed group, during proprioceptive recognition, participants with right-lateralization, bilaterality, or left-lateralization were equally distributed, and during self-face recognition, right-lateralization was still observed, though the number of participants who demonstrated left-lateralization increased. Atypical left-right reversed lateralization was only observed in left-handed participants, but during both self-body recognition tasks. The present study provides novel and valuable knowledge about right-hemispheric dominance in self-body recognition affected by left-handedness. We discuss how functional lateralization of self-body recognition is shaped in human brain, in terms of handedness, language lateralization, and development.
A meta-analysis of sex differences in human brain structure.
Neuroscience and biobehavioral reviews, 2014

The prevalence, age of onset, and symptomatology of many neuropsychiatric conditions differ between males and females. To understand the causes and consequences of sex differences it is important to establish where they occur in the human brain. We report the first meta-analysis of typical sex differences on global brain volume, a descriptive account of the breakdown of studies of each compartmental volume by six age categories, and whole-brain voxel-wise meta-analyses on brain volume and density. Gaussian-process regression coordinate-based meta-analysis was used to examine sex differences in voxel-based regional volume and density. On average, males have larger total brain volumes than females. Examination of the breakdown of studies providing total volumes by age categories indicated a bias towards the 18-59 year-old category. Regional sex differences in volume and tissue density include the amygdala, hippocampus and insula, areas known to be implicated in sex-biased neuropsychiatric conditions. Together, these results suggest candidate regions for investigating the asymmetric effect that sex has on the developing brain, and for understanding sex-biased neurological and psychiatric conditions.
White tea (Camellia sinensis) inhibits proliferation of the colon cancer cell line, HT-29, activates caspases and protects DNA of normal cells against oxidative damage.
Food chemistry, 2015

Tea (Camellia sinensis) is one of the most consumed beverages in the world. White tea is made from the buds and young leaves of the tea plant which are steamed and dried, whilst undergoing minimal oxidation. The MTT assay was used to test the extract on the effect of the proliferation of the colorectal cancer cell line, HT-29. The extract inhibited the proliferation of HT-29 cells with an IC50 of 87μg/ml. The extract increased the levels of caspase-3, -8, and -9 activity in the cells. DNA damage in 3T3-L1 normal cells was detected by using the comet assay. The extract protected 3T3-L1 cells against H2O2-induced DNA damage. The results from this study show that white tea has antioxidant and antiproliferative effects against cancer cells, but protect normal cells against DNA damage. Regular intake of white tea can help to maintain good health and protect the body against disease.