rudyvdbrink/CitationDatabase huggingface dataset:
Inherited and Sporadic Amyotrophic Lateral Sclerosis and Fronto-Temporal Lobar Degenerations arising from Pathological Condensates of Phase Separating Proteins.
Human molecular genetics, 2019

Recent work on the biophysics of proteins with low complexity, intrinsically disordered domains that have the capacity to form biological condensates has profoundly altered the concepts about the pathogenesis of inherited and sporadic neurodegenerative disorders associated with pathological accumulation of these proteins. In the present review, we use the FUS, TDP-43 and A11 proteins as examples to illustrate how missense mutations and aberrant post-translational modifications of these proteins cause amyotrophic lateral sclerosis (ALS) and fronto-temporal lobar degeneration (FTLD).
Treatment of temporomandibular disorders - knowledge, attitudes and clinical experience among general practising dentists in Sweden.
Acta odontologica Scandinavica, 2016

The aim of the study was to investigate the self-perceived level of knowledge, attitudes and clinical experience in treatment of temporomandibular disorders (TMD) among general practising dentists (GPDs).
Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.
Annals of neurology, 2016

The leading cause of epilepsy-related premature mortality is sudden unexpected death in epilepsy (SUDEP). The cause of SUDEP remains unknown. To search for genetic risk factors in SUDEP cases, we performed an exome-based analysis of rare variants.
Report of an Isolated L5 Radiculopathy Caused by an L2-3 Disc Herniation and Review of the Literature.
Cureus, 2018

Intervertebral disc herniation is a common cause of radiculopathy. Disc herniations occurring in the lumbar spine typically affect the nerve root exiting under the pedicle of the vertebral body, one level caudal. However, in rare cases, a disc herniation can cause remote isolated radicular symptoms. The authors present the case of a 70-year-old male who presented with an acute, new-onset, left-sided foot drop, low back pain, and a classic L5 monoradiculopathy. Imaging revealed a large, left-sided paracentral extruded L2-3 disc and the absence of any pathology at the L4/5 level. Although the patient's clinical presentation and imaging did not classically correlate, it was felt that the L2-L3 disc was the etiology of the patient's L5 radiculopathy and a left L2-3 microsurgical discectomy was performed. At the six-week follow-up, his foot drop was near normal, sensation was intact with minimal paresthesias, and he remained pain-free. At the one-year follow-up, he experienced full resolution of his foot drop and remained symptom-free. Although rare, disc herniations may cause isolated, remote, painful mononeuropathies not related to the direct level of nerve root compression and should be considered along with other etiologies of peripheral neuropathies.
Using manganese-enhanced MRI to understand BOLD.
NeuroImage, 2012

The 1990s were designated "The Decade of the Brain" by U.S. Congress, perhaps in great anticipation of the impact that functional neuroimaging techniques would have on advancing our understanding of how the brain is functionally organized. While it is impossible to overestimate the impact of functional MRI in neuroscience, many aspects of the blood oxygenation level-dependent (BOLD) contrast remain poorly understood, in great part due to the complex relationship between neural activity and hemodynamic changes. To better understand such relationship, it is important to probe neural activity independently. Manganese-enhanced MRI (MEMRI), when used to monitor neural activity, is a technique that uses the divalent manganese ion, Mn(2+), as a surrogate measure of calcium influx. A major advantage of using Mn(2+) as a functional marker is that the contrast obtained is directly related to the accumulation of the ion in excitable cells in an activity dependent manner. As such, the contrast in MEMRI is more directly related to neural activity then hemodynamic-based fMRI techniques. In the present work, the early conceptualization of MEMRI is reviewed, and the comparative experiments that have helped provide a better understanding of the spatial specificity of BOLD signal changes in the cortex is discussed.
Physical pain increases interpersonal trust in females.
European journal of pain (London, England), 2018

People behave and interact with others differently when experiencing physical pain. Pain has dramatic effects on one's emotional responses, cognitive functions and social interaction. However, little has been known about whether and how physical pain influences interpersonal trust in social interaction. In the present study, we examined the influence of physical pain on trusting behaviour.
Leukocyte telomerase activity and antidepressant efficacy in bipolar disorder.
European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology, 2014

Telomeres are DNA-protein complexes that cap linear DNA strands, protecting DNA from damage. Recently, shorten telomeres length has been reported in bipolar disorder (BD) and depression. The enzyme telomerase regulates telomeres׳ length, which has been associated with cellular viability; however it is not clear how telomerase may be involved in the pathophysiology and therapeutics of BD. In the present study, leukocyte telomerase activity was assessed in 28 medication-free BD depressed individuals (DSM-IV-TR criteria) at baseline and after 6 weeks of lithium therapy (n=21) also matching with 23 healthy controls. There was no difference between telomerase activity in subjects with BD depression (before or after lithium) and controls. Improvement of depressive symptoms was negatively associated with telomerase activity after 6 weeks of lithium therapy. This is the first study describing telomerase activity in BD research. Overall, telomerase activity seems not directly involved in the pathophysiology of short-term BD. Lithium׳s antidepressant effects may involve regulation at telomerase activity. Further studies with larger samples and long-term illness are also warranted.
Isolated schwannoma involving extraocular muscles.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus, 2016

Progressive strabismus initially considered idiopathic may be caused by isolated schwannomas of motor nerves to extraocular muscles, detectable only on careful imaging. This study reviewed clinical experience of a referral practice in identifying schwannomas on magnetic resonance imaging (MRI).
Sex differences in behavioral and neurochemical effects of gonadectomy and aromatase inhibition in rats.
Psychoneuroendocrinology, 2018

Aromatase inhibitors, which are widely used for the treatment of estrogen-dependent cancers, have been associated with psychiatric side effects ranging from mania to depression. In the present study, we investigated sex differences in the behavioral and neurochemical effects of aromatase inhibition on male and female, sham-operated or gonadectomized adult rats. Three weeks after surgery, rats received chronic treatment with the aromatase inhibitor letrozole or vehicle and were then subjected to the open field test, which assesses general activity. Half of the subjects were subsequently exposed to the stressful procedure of the forced swim test (FST), which is also a test of antidepressant activity. Aromatase activity was analyzed in the hypothalamus and testosterone and corticosterone were assayed in the blood serum of all rats. The hippocampus and prefrontal cortex (PFC) were analyzed for monoamine (noradrenaline, dopamine and serotonin), as well as amino acid (GABA, glutamate, glycine, taurine, alanine and histidine) levels. The observed decrease in hypothalamic aromatase activity confirmed the efficacy of letrozole treatment in both sexes. Moreover, letrozole enhanced testosterone levels in sham-operated females. In the open field test, females were overall more active and explorative than males and gonadectomy eliminated this sex difference. In the FST, females exhibited overall higher immobility than males and gonadectomy further enhanced this passive behavior in both sexes. However, sustained aromatase inhibition had no effect on open field and FST behaviors. Head shakes during FST, which were fewer in females than in males, were reduced by castration in males and by letrozole treatment in ovariectomized females, suggesting a role of testosterone and extra-gonadal estrogens in the expression of this behavior. Sustained aromatase inhibition also decreased noradrenaline and the dopaminergic turnover rates [DOPAC/DA, HVA/DA] in the hippocampus and PFC of male and female rats, irrespectively of gonadectomy. Moreover, letrozole treatment enhanced the serotonergic turnover [5HIAA/5HT] rate in the hippocampus of males and females, irrespectively of gonadectomy. Amino acid levels were not influenced by letrozole, but sex differences were demonstrated with higher levels in the PFC of females vs. males. Present findings suggest that the neuropsychiatric effects of aromatase inhibition can be attributed to the inhibition of extragonadal estrogen synthesis, presumably in the brain, and could be further associated with serotonergic and catecholaminergic changes in brain regions involved in mood and cognition. Importantly, present data could be linked with the neurobiology of affective side-effects in post-menopausal women receiving aromatase inhibitors.
Electrical neuroimaging of memory discrimination based on single-trial multisensory learning.
NeuroImage, 2012

Multisensory experiences influence subsequent memory performance and brain responses. Studies have thus far concentrated on semantically congruent pairings, leaving unresolved the influence of stimulus pairing and memory sub-types. Here, we paired images with unique, meaningless sounds during a continuous recognition task to determine if purely episodic, single-trial multisensory experiences can incidentally impact subsequent visual object discrimination. Psychophysics and electrical neuroimaging analyses of visual evoked potentials (VEPs) compared responses to repeated images either paired or not with a meaningless sound during initial encounters. Recognition accuracy was significantly impaired for images initially presented as multisensory pairs and could not be explained in terms of differential attention or transfer of effects from encoding to retrieval. VEP modulations occurred at 100-130 ms and 270-310 ms and stemmed from topographic differences indicative of network configuration changes within the brain. Distributed source estimations localized the earlier effect to regions of the right posterior temporal gyrus (STG) and the later effect to regions of the middle temporal gyrus (MTG). Responses in these regions were stronger for images previously encountered as multisensory pairs. Only the later effect correlated with performance such that greater MTG activity in response to repeated visual stimuli was linked with greater performance decrements. The present findings suggest that brain networks involved in this discrimination may critically depend on whether multisensory events facilitate or impair later visual memory performance. More generally, the data support models whereby effects of multisensory interactions persist to incidentally affect subsequent behavior as well as visual processing during its initial stages.
An essential postsynaptic role for the ubiquitin proteasome system in slow homeostatic synaptic plasticity in cultured hippocampal neurons.
Neuroscience, 2010

Chronic increases or decreases in neuronal activity initiates compensatory changes in synaptic strength that emerge slowly over a 12-24 h period, but the mechanisms underlying this slow homeostatic response remain poorly understood. Here, we show an essential role for the ubiquitin proteasome system (UPS) in slow homeostatic plasticity induced by chronic changes in network activity. In cultured hippocampal neurons, UPS inhibitors drive a slow increase in miniature excitatory postsynaptic current (mEPSC) amplitude and synaptic AMPA receptor subunit GluA1 and GluA2 expression that both mirrors and occludes the changes produced by chronic suppression of network activity with tetrodotoxin (TTX). These non-additive effects were similarly observed under conditions of chronic hyperactivation of network activity with bicuculline--the increase in mEPSC amplitude and GluA1/2 expression with chronic UPS inhibition persists during network hyperactivation, which scales synaptic strength and AMPA receptor expression in the opposite direction when UPS activity is intact. Finally, cell-autonomous UPS inhibition (via expression of the ubiquitin chain elongation mutant, UbK48R) enhances mEPSC amplitude in a manner that mimics and occludes changes in network activity, demonstrating a postsynaptic role for the UPS in slow homeostatic plasticity. Taken together, our results suggest that the UPS acts as an integration point for translating sustained changes in network activity into appropriate incremental compensatory changes at synapses.
Phospholipase C families: Common themes and versatility in physiology and pathology.
Progress in lipid research, 2020

Phosphoinositide-specific phospholipase Cs (PLCs) are expressed in all mammalian cells and play critical roles in signal transduction. To obtain a comprehensive understanding of these enzymes in physiology and pathology, a detailed structural, biochemical, cell biological and genetic information is required. In this review, we cover all these aspects to summarize current knowledge of the entire superfamily. The families of PLCs have expanded from 13 enzymes to 16 with the identification of the atypical PLCs in the human genome. Recent structural insights highlight the common themes that cover not only the substrate catalysis but also the mechanisms of activation. This involves the release of autoinhibitory interactions that, in the absence of stimulation, maintain classical PLC enzymes in their inactive forms. Studies of individual PLCs provide a rich repertoire of PLC function in different physiologies. Furthermore, the genetic studies discovered numerous mutated and rare variants of PLC enzymes and their link to human disease development, greatly expanding our understanding of their roles in diverse pathologies. Notably, substantial evidence now supports involvement of different PLC isoforms in the development of specific cancer types, immune disorders and neurodegeneration. These advances will stimulate the generation of new drugs that target PLC enzymes, and will therefore open new possibilities for treatment of a number of diseases where current therapies remain ineffective.
α-synuclein and synapsin III cooperatively regulate synaptic function in dopamine neurons.
Journal of cell science, 2015

The main neuropathological features of Parkinson's disease are dopaminergic nigrostriatal neuron degeneration, and intraneuronal and intraneuritic proteinaceous inclusions named Lewy bodies and Lewy neurites, respectively, which mainly contain α-synuclein (α-syn, also known as SNCA). The neuronal phosphoprotein synapsin III (also known as SYN3), is a pivotal regulator of dopamine neuron synaptic function. Here, we show that α-syn interacts with and modulates synapsin III. The absence of α-syn causes a selective increase and redistribution of synapsin III, and changes the organization of synaptic vesicle pools in dopamine neurons. In α-syn-null mice, the alterations of synapsin III induce an increased locomotor response to the stimulation of synapsin-dependent dopamine overflow, despite this, these mice show decreased basal and depolarization-dependent striatal dopamine release. Of note, synapsin III seems to be involved in α-syn aggregation, which also coaxes its increase and redistribution. Furthermore, synapsin III accumulates in the caudate and putamen of individuals with Parkinson's disease. These findings support a reciprocal modulatory interaction of α-syn and synapsin III in the regulation of dopamine neuron synaptic function.
Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2013

KBG syndrome is a rare disease characterized by typical facial dysmorphism, macrodontia of upper central incisors, skeletal abnormalities, and developmental delay. Recently, mutations in ANKRD11 gene have been identified in a subset of patients with KBG syndrome, while a contiguous gene deletion syndrome involving 16q24.3 region (including ANKRD11) was delineated in patients with facial dysmorphism, autism, intellectual disability, and brain abnormalities. Although numerous evidences point to a central causative role of ANKRD11 in the neurologic features of these patients, their neurocognitive and behavior phenotypes are still poorly characterized. Herein, we report the complete neurological and psychiatric features observed in two patients with KBG syndrome due to ANKRD11 mutations. Both patients show intellectual disabilities, severe impairment in communication skills, deficits in several aspects of executive functions and working memory and anxious traits. Their features are compared with those of previously reported patients with KBG syndrome aiding in the delineation of neurocognitive phenotype associated to ANKRD11 mutations.
The role of physical activity in the association between multimorbidity and depressive symptoms: Data from 60,202 adults from the Brazilian National Health Survey.
Journal of psychosomatic research, 2020

Depression is commonly associated to physical multimorbidity and there is an urgent need to identify modifiable risk factors. Physical activity (PA) is good for health, but the association between PA and multimorbidity with depressive symptoms is unclear. Thus, we investigated whether meeting weekly recommended PA guidelines influences the association between multimorbidity and depressive symptoms.
A hypothetical role for vitamin K2 in the endocrine and exocrine aspects of dental caries.
Medical hypotheses, 2015

The growing interest in oral/systemic links demand new paradigms to understand disease processes. New opportunities for dental research, particularly in the fields of neuroscience and endocrinology will emerge. The role of the hypothalamus portion of the brain cannot be underestimated. Under the influence of nutrition, it plays a significant role in the systemic model of dental caries. Currently, the traditional theory of dental caries considers only the oral environment and does not recognize any significant role for the brain. The healthy tooth, however, has a centrifugal fluid flow to nourish and cleanse it. This is moderated by the hypothalamus/parotid axis which signals the endocrine portion of the parotid glands. High sugar intake creates an increase in reactive oxygen species and oxidative stress in the hypothalamus. When this signaling mechanism halts or reverses the dentinal fluid flow, it renders the tooth vulnerable to oral bacteria, which can now attach to the tooth's surface. Acid produced by oral bacteria such as Strep Mutans and lactobacillus can now de-mineralize the enamel and irritate the dentin. The acid attack stimulates an inflammatory response which results in dentin breakdown from the body's own matrix metalloproteinases. Vitamin K2 (K2) has been shown to have an antioxidant potential in the brain and may prove to be a potent way to preserve the endocrine controlled centrifugal dentinal fluid flow. Stress, including oxidative stress, magnifies the body's inflammatory response. Sugar can not only increase oral bacterial acid production but it can concurrently reduce the tooth's defenses through endocrine signaling. Saliva production is the exocrine function of the salivary glands. The buffering capacity of saliva is critical to neutralizing the oral environment. This minimizes the de-mineralization of enamel and enhances its re-mineralization. K2, such as that found in fermented cheese, improves salivary buffering through its influence on calcium and inorganic phosphates secreted. Data collected from several selected primitive cultures on the cusp of civilization demonstrated the difference in dental health due to diet. The primitive diet group had few carious lesions compared to the group which consumed a civilized diet high in sugar and refined carbohydrates. The primitives were able to include the fat soluble vitamins, specifically K2, in their diet. More endocrine and neuroscience research is necessary to better understand how nutrition influences the tooth's defenses through the hypothalamus/parotid axis. It will also link dental caries to other inflammation related degenerative diseases such as diabetes.
siRecords: a database of mammalian RNAi experiments and efficacies.
Nucleic acids research, 2009

RNAi-based gene-silencing techniques offer a fast and cost-effective way of knocking down genes' functions in an easily regulated manner. Exciting progress has been made in recent years in the application of these techniques in basic biomedical research and therapeutic development. However, it remains a difficult task to design effective siRNA experiments with high efficacy and specificity. We present siRecords, an extensive database of mammalian RNAi experiments with consistent efficacy ratings. This database serves two purposes. First, it provides a large and diverse dataset of siRNA experiments. This dataset faithfully represents the general, diverse RNAi experimental practice, and allows more reliable siRNA design tools to be developed with the overfitting problem well curbed. Second, the database helps experimental RNAi researchers directly by providing them with the efficacy and other information about the siRNAs experiments designed and conducted previously against the genes of their interest. The current release of siRecords contains the records of 17,192 RNAi experiments targeting 5086 genes.
Stimuli, presentation modality, and load-specific brain activity patterns during n-back task.
Human brain mapping, 2019

Working memory (WM) refers to a set of cognitive processes that allows for the temporary storage and manipulation of information, crucial for everyday life skills. WM deficits are present in several neurological, psychiatric, and neurodevelopmental disorders, thus making the full understanding of its neural correlates a key aspect for the implementation of cognitive training interventions. Here, we present a quantitative meta-analysis focusing on the underlying neural substrates upon which the n-back, one of the most commonly used tasks for WM assessment, is believed to rely on, as highlighted by functional magnetic resonance imaging and positron emission tomography findings. Relevant published work was scrutinized through the activation likelihood estimate (ALE) statistical framework in order to generate a set of task-specific activation maps, according to n-back difficulty. Our results confirm the known involvement of frontoparietal areas across different types of n-back tasks, as well as the recruitment of subcortical structures, cerebellum and precuneus. Specific activations maps for four stimuli types, six presentation modalities, three WM loads and their combination are provided and discussed. Moreover, functional overlap with resting-state networks highlighted a strong similarity between n-back nodes and the Dorsal Attention Network, with less overlap with other networks like Salience, Language, and Sensorimotor ones. Additionally, neural deactivations during n-back tasks and their functional connectivity profile were examined. Clinical and functional implications are discussed in the context of potential noninvasive brain stimulation and cognitive enhancement/rehabilitation programs.