rudyvdbrink/CitationDatabase huggingface dataset:
The effects of age on cerebral responses to self-initiated actions during social interactions: An exploratory study.
Behavioural brain research, 2020

Self-initiated action is critical to social interaction and individuals with social anxiety find it particularly difficult to initiate social interactions. We showed earlier that social exclusion encumbered self-initiated actions in the Cyberball task in young adults. Here, we examined whether the behavioral performance and regional responses during self-initiated actions vary with age in 53 participants (21-74 years; 27 men). Behaviorally, participants were slower in tossing the ball during exclusion (EX) than during fair game (FG) sessions in both men and women. In women but not in men the reaction time (RT) burden (RT_EX - RT_FG; RT prolonged during social exclusion) of ball toss was positively correlated with age despite no observed sex difference in Social Interaction Anxiety Scale scores. The pregenual anterior cingulate cortex, thalamus, left occipital cortex (OC) and left insula/orbitofrontal cortex responded to ball toss in EX vs. FG in negative correlation with age in women but not in men. Further, the activation of left OC fully mediated the relationship between age and RT burden in women. Thus, older women are more encumbered in self-initiated action during social exclusion, although this behavioral burden is not reflected in subjective reports of social anxiety. Age-related diminution in OC activities may reflect the neural processes underlying the difficulty in initiating social interactions in women. Together, the findings identified age-sensitive behavioral and neural processes of self-initiated action in the Cyberball task and suggest the importance of considering age and sex differences in studies of social interaction.
Reflex-based grasping, skilled forelimb reaching, and electrodiagnostic evaluation for comprehensive analysis of functional recovery-The 7-mm rat median nerve gap repair model revisited.
Brain and behavior, 2017

The rat median nerve injury and repair model gets increasingly important for research on novel bioartificial nerve grafts. It allows follow-up evaluation of the recovery of the forepaw functional ability with several sensitive techniques. The reflex-based grasping test, the skilled forelimb reaching staircase test, as well as electrodiagnostic recordings have been described useful in this context. Currently, no standard values exist, however, for comparison or comprehensive correlation of results obtained in each of the three methods after nerve gap repair in adult rats.
Effect of exogenous estrogens and progestogens on the course of migraine during reproductive age: a consensus statement by the European Headache Federation (EHF) and the European Society of Contraception and Reproductive Health (ESCRH).
The journal of headache and pain, 2018

We systematically reviewed data about the effect of exogenous estrogens and progestogens on the course of migraine during reproductive age. Thereafter a consensus procedure among international experts was undertaken to develop statements to support clinical decision making, in terms of possible effects on migraine course of exogenous estrogens and progestogens and on possible treatment of headache associated with the use or with the withdrawal of hormones. Overall, quality of current evidence is low. Recommendations are provided for all the compounds with available evidence including the conventional 21/7 combined hormonal contraception, the desogestrel only oral pill, combined oral contraceptives with shortened pill-free interval, combined oral contraceptives with estradiol supplementation during the pill-free interval, extended regimen of combined hormonal contraceptive with pill or patch, combined hormonal contraceptive vaginal ring, transdermal estradiol supplementation with gel, transdermal estradiol supplementation with patch, subcutaneous estrogen implant with cyclical oral progestogen. As the quality of available data is poor, further research is needed on this topic to improve the knowledge about the use of estrogens and progestogens in women with migraine. There is a need for better management of headaches related to the use of hormones or their withdrawal.
Responsiveness of G protein-coupled odorant receptors is partially attributed to the activation mechanism.
Proceedings of the National Academy of Sciences of the United States of America, 2015

Mammals detect and discriminate numerous odors via a large family of G protein-coupled odorant receptors (ORs). However, little is known about the molecular and structural basis underlying OR response properties. Using site-directed mutagenesis and computational modeling, we studied ORs sharing high sequence homology but with different response properties. When tested in heterologous cells by diverse odorants, MOR256-3 responded broadly to many odorants, whereas MOR256-8 responded weakly to a few odorants. Out of 36 mutant MOR256-3 ORs, the majority altered the responses to different odorants in a similar manner and the overall response of an OR was positively correlated with its basal activity, an indication of ligand-independent receptor activation. Strikingly, a single mutation in MOR256-8 was sufficient to confer both high basal activity and broad responsiveness to this receptor. These results suggest that broad responsiveness of an OR is at least partially attributed to its activation likelihood.
Synesthesia: a new approach to understanding the development of perception.
Developmental psychology, 2009

In this article, the authors introduce a new theoretical framework for understanding intersensory development. Their approach is based upon insights gained from adults who experience synesthesia, in whom sensory stimuli induce extra cross-modal or intramodal percepts. Synesthesia appears to represent one way that typical developmental mechanisms can play out by magnifying connections present in early life that are pruned and/or inhibited during development but persist in muted form in all adults. As such, the study of synesthesia provides valuable insights into the nature of intersensory development. The authors review evidence on the perceptual reality and neural basis of synesthesia, then summarize developmental models and evidence that its underlying mechanisms are universal in adults. They illustrate how evidence for consistent sensory associations in adults leads to predictions about toddlers' perception and present 3 bodies of work that have confirmed those hypotheses. They end by describing novel hypotheses about intersensory development that arise from this framework. Such intersensory associations appear to reflect intrinsic sensory cortical organization that influences the development of perception and of language and that may constrain the learning of environmentally based associations.
Active wall following by Mexican blind cavefish (Astyanax mexicanus).
Journal of comparative physiology. A, Neuroethology, sensory, neural, and behavioral physiology, 2010

When introduced into a novel environment that limits or prevents vision, a variety of species including Mexican blind cavefish (Astyanax mexicanus) exhibit wall-following behaviors. It is often assumed that wall following serves an exploratory function, but this assertion remains untested against alternative artifactual explanations. Here, we test whether wall following by cavefish is a purposeful behavior in which fish actively maintain a close relationship with the wall, or an artifactual consequence of being enclosed in a small concave arena, in which fish turn slightly to avoid the wall whenever it impedes forward movement. Wall-following abilities of fish were tested in a large, goggle-shaped arena, where forward motion along the convex wall was unimpeded. In this circumstance, cavefish continued to follow the wall at frequencies significantly above chance levels. Lateral line inactivation significantly reduced the ability of fish to follow convex, but not concave or straight, walls. Wall-following abilities of normal fish decreased with decreasing radius of wall convex curvature. Our results demonstrate that cavefish actively follow walls of varying contours. Radius-of-curvature effects coupled with the difficulties posed by convex walls to lateral line-deprived fish suggest a partially complementary use of tactile and lateral line information to regulate distance from the wall.
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Human mutation, 2019

Pathogenic de novo variants in the X-linked gene SLC35A2 encoding the major Golgi-localized UDP-galactose transporter required for proper protein and lipid glycosylation cause a rare type of congenital disorder of glycosylation known as SLC35A2-congenital disorders of glycosylation (CDG; formerly CDG-IIm). To date, 29 unique de novo variants from 32 unrelated individuals have been described in the literature. The majority of affected individuals are primarily characterized by varying degrees of neurological impairments with or without skeletal abnormalities. Surprisingly, most affected individuals do not show abnormalities in serum transferrin N-glycosylation, a common biomarker for most types of CDG. Here we present data characterizing 30 individuals and add 26 new variants, the single largest study involving SLC35A2-CDG. The great majority of these individuals had normal transferrin glycosylation. In addition, expanding the molecular and clinical spectrum of this rare disorder, we developed a robust and reliable biochemical assay to assess SLC35A2-dependent UDP-galactose transport activity in primary fibroblasts. Finally, we show that transport activity is directly correlated to the ratio of wild-type to mutant alleles in fibroblasts from affected individuals.
Manipulating the sleep-wake cycle and circadian rhythms to improve clinical management of major depression.
BMC medicine, 2013

Clinical psychiatry has always been limited by the lack of objective tests to substantiate diagnoses and a lack of specific treatments that target underlying pathophysiology. One area in which these twin failures has been most frustrating is major depression. Due to very considerable progress in the basic and clinical neurosciences of sleep-wake cycles and underlying circadian systems this situation is now rapidly changing.
Effect of a family intervention on psychological outcomes of children affected by parental HIV.
AIDS and behavior, 2014

This study assesses intervention outcomes in children's self-esteem, perceived parental care, and problem behavior and their potential connections to intervention outcomes in depressive symptoms and family functioning reported by parents living with HIV (PLH) and family members. A total of 79 families were recruited from Anhui province, China. The intervention was delivered at the individual, family and community levels. Face-to-face interviews were administered at baseline, 3 and 6 months. A mixed-effects regression model was used to assess the intervention effect on the improvement of children's reported self-esteem, parental care, and problem behavior. To further investigate the association between the parental measures and their children's outcomes, we added parental measure as a time-varying covariate to explore whether the intervention effect on children was influenced by the parental measures. We observed some intervention effects related to children's psychological measures accompanied by the improvement in mental health of PLH and family members. Our study findings highlight the importance of empowering families as a whole to confront HIV related challenges and the need to develop child-adequate and age-specific intervention strategies.
Autosomal dominant epilepsy with auditory features: a new LGI1 family including a phenocopy with cortical dysplasia.
Journal of neurology, 2016

We report a new family with autosomal dominant epilepsy with auditory features (ADEAF) including focal cortical dysplasia (FCD) in the proband. We aim to identify the molecular cause in this family and clarify the relationship between FCD and ADEAF. A large Iranian Jewish family including 14 individuals with epileptic seizures was phenotyped including high-resolution 3-T MRI. We performed linkage analysis and exome sequencing. LGI1, KANK1 and RELN were Sanger sequenced. Seizure semiology of 11 individuals was consistent with ADEAF. The proband underwent surgery for right mesiotemporal FCD. 3-T MRIs in four individuals were unremarkable. Linkage analysis revealed peaks on chromosome 9p24 (LOD 2.43) and 10q22-25 (LOD 2.04). A novel heterozygous LGI1 mutation was identified in all affected individuals except for the proband indicating a phenocopy. Exome sequencing did not reveal variants within the chromosome 9p24 region. Closely located variants in KANK1 and a RELN variant did not segregate with the phenotype. We provide detailed description of the phenotypic spectrum within a large ADEAF family with a novel LGI1 mutation that was conspicuously absent in the proband with FCD, demonstrating that despite identical clinical symptoms, phenocopies in ADEAF families may exist. This family illustrates that rare epilepsy syndromes within a single family can have both genetic and structural etiologies.
Treatment implications of predominant polarity and the polarity index: a comprehensive review.
The international journal of neuropsychopharmacology, 2014

Bipolar disorder (BD) is a serious and recurring condition that affects approximately 2.4% of the global population. About half of BD sufferers have an illness course characterized by either a manic or a depressive predominance. This predominant polarity in BD may be differentially associated with several clinical correlates. The concept of a polarity index (PI) has been recently proposed as an index of the antimanic versus antidepressive efficacy of various maintenance treatments for BD. Notwithstanding its potential clinical utility, predominant polarity was not included in the DSM-5 as a BD course specifier.
Transcranial direct current stimulation (tDCS) of frontal cortex decreases performance on the WAIS-IV intelligence test.
Behavioural brain research, 2015

Transcranial direct current stimulation (tDCS) modulates excitability of motor cortex. However, there is conflicting evidence about the efficacy of this non-invasive brain stimulation modality to modulate performance on cognitive tasks. Previous work has tested the effect of tDCS on specific facets of cognition and executive processing. However, no randomized, double-blind, sham-controlled study has looked at the effects of tDCS on a comprehensive battery of cognitive processes. The objective of this study was to test if tDCS had an effect on performance on a comprehensive assay of cognitive processes, a standardized intelligence quotient (IQ) test. The study consisted of two substudies and followed a double-blind, between-subjects, sham-controlled design. In total, 41 healthy adult participants were included in the final analysis. These participants completed the Wechsler Adult Intelligence Scale, Fourth Edition (WAIS-IV) as a baseline measure. At least one week later, participants in substudy 1 received either bilateral tDCS (anodes over both F4 and F3, cathode over Cz, 2 mA at each anode for 20 min) or active sham tDCS (2 mA for 40 s), and participants in substudy 2 received either right or left tDCS (anode over either F4 or F3, cathode over Cz, 2 mA for 20 min). In both studies, the WAIS-IV was immediately administered following stimulation to assess for performance differences induced by bilateral and unilateral tDCS. Compared to sham stimulation, right, left, and bilateral tDCS reduced improvement between sessions on Full Scale IQ and the Perceptual Reasoning Index. This demonstration that frontal tDCS selectively degraded improvement on specific metrics of the WAIS-IV raises important questions about the often proposed role of tDCS in cognitive enhancement.
Effects of muscimol in the nucleus accumbens shell on salt appetite and sucrose intake: a microstructural study with a comment on the sensitization of salt intake.
Behavioral neuroscience, 2012

Previous work has demonstrated that injections of the γ-aminobutyric acidA (GABAA) agonist muscimol into the nucleus accumbens shell (AcbSh) induce pronounced increases in the intake of solid foods and sucrose solutions, but do not potentiate water intake. In order to clarify the range of situations in which inactivation of the AcbSh potentiates ingestive behavior, we examined the effects of muscimol injections on the intake of a 3% NaCl solution in sodium-depleted animals. Although sodium-depleted subjects avidly consumed this solution, muscimol injections had no effect either on the volume consumed or on a variety of microstructural licking parameters. In contrast, in these same animals, muscimol injections significantly increased licking of a 10% sucrose solution. These results suggest that inactivation of the AcbSh may selectively increase the intake of foods, but not that of other homeostatically relevant ingestates. Examination of microstructural parameters suggested that the effect of muscimol on sucrose intake was not mediated by alterations in the "palatability" of the sucrose solution. We also observed that sodium-depleted subjects displayed significantly larger salt intakes after their second experience with sodium depletion than their first, and microstructural analysis in this case indicated that this sensitization effect was produced in a manner consistent with the animals showing increased "hedonic responsiveness" to the salt solution.
Pathophysiology of Placenta Accreta Spectrum Disorders: A Review of Current Findings.
Clinical obstetrics and gynecology, 2018

Current findings continue to support the concept of a biologically defective decidua rather than a primarily abnormally invasive trophoblast. Prior cesarean sections increase the risk of placenta previa and both adherent and invasive placenta accreta, suggesting that the endometrial/decidual defect following the iatrogenic creation of a uterine myometrium scar has an adverse effect on early implantation. Preferential attachment of the blastocyst to scar tissue facilitates abnormally deep invasion of trophoblastic cells and interactions with the radial and arcuate arteries. Subsequent high velocity maternal arterial inflow into the placenta creates large lacunae, destroying the normal cotyledonary arrangement of the villi.
Do cognition and other non-motor symptoms decline similarly among patients with Parkinson's disease motor subtypes? Findings from a 5-year prospective study.
Journal of neurology, 2017

Among patients with Parkinson's disease (PD), a wide range of motor and non-motor symptoms (NMS) are evident. PD is often divided into tremor dominant (TD) and postural instability gait difficulty (PIGD) motor subtypes. We evaluated the effect of disease duration and aimed to characterize whether there are differences in the deterioration of cognitive function and other NMS between the PIGD and TD subtypes. Sixty-three subjects were re-evaluated at the follow-up visit about 5 years after baseline examination. Cognitive function and other NMS were assessed. At follow-up, the PIGD and TD groups were similar with respect to medications, comorbidities and disease-related symptoms. There was a significant time effect for all measures, indicating deterioration and worsening in both groups. However, cognitive scores, particularly those related to executive function, became significantly worse in the PIGD with a more moderate decrease in the TD group. For example, the computerized global cognitive score declined in the PIGD group from 94.21 ± 11.88 to 83.91 ± 13.76, p < 0.001. This decline was significantly larger (p = 0.03) than the decrease observed in the TD group (96.56 ± 10.29 to 92.21 ± 14.20, p = 0.047). A significant group × time interaction effect was found for the change in global cognitive score (p = 0.047), the executive function index (p = 0.002) and accuracy on a motor-cognitive catch game (p = 0.008). In contrast, several NMS including depression, health-related quality of life and fear of falling deteriorated in parallel in both subtypes, with no interaction effect. The present findings highlight the difference in the natural history of the disease between the two PD "motor" subtypes. While the PIGD group demonstrated a significant cognitive decline, especially in executive functions, a more favorable course was observed in the TD subtype. This behavior was not seen in regards to the other NMS.
Restoring Ureagenesis in Hepatocytes by CRISPR/Cas9-mediated Genomic Addition to Arginase-deficient Induced Pluripotent Stem Cells.
Molecular therapy. Nucleic acids, 2016

Urea cycle disorders are incurable enzymopathies that affect nitrogen metabolism and typically lead to hyperammonemia. Arginase deficiency results from a mutation in Arg1, the enzyme regulating the final step of ureagenesis and typically results in developmental disabilities, seizures, spastic diplegia, and sometimes death. Current medical treatments for urea cycle disorders are only marginally effective, and for proximal disorders, liver transplantation is effective but limited by graft availability. Advances in human induced pluripotent stem cell research has allowed for the genetic modification of stem cells for potential cellular replacement therapies. In this study, we demonstrate a universally-applicable CRISPR/Cas9-based strategy utilizing exon 1 of the hypoxanthine-guanine phosphoribosyltransferase locus to genetically modify and restore arginase activity, and thus ureagenesis, in genetically distinct patient-specific human induced pluripotent stem cells and hepatocyte-like derivatives. Successful strategies restoring gene function in patient-specific human induced pluripotent stem cells may advance applications of genetically modified cell therapy to treat urea cycle and other inborn errors of metabolism.
DNA damage-associated oligodendrocyte degeneration precedes amyloid pathology and contributes to Alzheimer's disease and dementia.
Alzheimer's & dementia : the journal of the Alzheimer's Association, 2018

In looking for novel non-amyloid-based etiologies for Alzheimer's disease, we explore the hypothesis that age-related myelin loss is an attractive explanation for age-associated cognitive decline and dementia.
Long-term neurocognitive outcome and quality of life in pediatric acute disseminated encephalomyelitis.
Pediatric neurology, 2014

Acute disseminated encephalomyelitis is an inflammatory-demyelinating disorder of the central nervous system usually with a monophasic course and a favorable neurological outcome. Long-term neurocognitive sequelae and quality of life have not yet been fully investigated.
Chromatin modification of Notch targets in olfactory receptor neuron diversification.
Nature neuroscience, 2011

Neuronal-class diversification is central during neurogenesis. This requirement is exemplified in the olfactory system, which utilizes a large array of olfactory receptor neuron (ORN) classes. We discovered an epigenetic mechanism in which neuron diversity is maximized via locus-specific chromatin modifications that generate context-dependent responses from a single, generally used intracellular signal. Each ORN in Drosophila acquires one of three basic identities defined by the compound outcome of three iterated Notch signaling events during neurogenesis. Hamlet, the Drosophila Evi1 and Prdm16 proto-oncogene homolog, modifies cellular responses to these iteratively used Notch signals in a context-dependent manner, and controls odorant receptor gene choice and ORN axon targeting specificity. In nascent ORNs, Hamlet erases the Notch state inherited from the parental cell, enabling a modified response in a subsequent round of Notch signaling. Hamlet directs locus-specific modifications of histone methylation and histone density and controls accessibility of the DNA-binding protein Suppressor of Hairless at the Notch target promoter.