rudyvdbrink/CitationDatabase huggingface dataset:
Genetic neuroimaging of bipolar disorder: a systematic 2017-2020 update.
Psychiatric genetics, 2021

There is evidence of genetic polymorphism influences on brain structure and function, genetic risk in bipolar disorder (BD), and neuroimaging correlates of BD. How genetic influences related to BD could be reflected on brain changes in BD has been efficiently reviewed in a 2017 systematic review. We aimed to confirm and extend these findings through a Preferred Reporting Items for Systematic reviews and Meta-Analyses-based systematic review. Our study allowed us to conclude that there is no replicated finding in the timeframe considered. We were also unable to further confirm prior results of the BDNF gene polymorphisms to affect brain structure and function in BD. The most consistent finding is an influence of the CACNA1C rs1006737 polymorphism in brain connectivity and grey matter structure and function. There was a tendency of undersized studies to obtain positive results and large, genome-wide polygenic risk studies to find negative results in BD. The neuroimaging genetics in BD field is rapidly expanding.
Evidence for the Endocannabinoid System as a Therapeutic Target in the Treatment of Cannabis Use Disorder.
Current addiction reports, 2020

Cannabis use disorder (CUD) is highly prevalent. Psychotherapy alone is not adequately effective, with few individuals achieving abstinence. Pharmacotherapeutic supplementation may improve efficacy, and the endocannabinoid system presents a target specifically dysregulated by heavy cannabis use. This review compiles current literature evaluating endocannabinoid modulation as a treatment strategy for CUD, with implications for future research.
Using phage display in neurobiology.
Current protocols in neuroscience, 2002

In this unit some of the basic protocols involved in the manipulation of phage display libraries are described, including the rescue and amplification of such libraries, selection and screening from them and testing of derived clones.
A Review of the Use of Biological Agents in Human Immunodeficiency Virus Positive Patients With Rheumatological Diseases.
Cureus, 2020

After approval, initial biologics etanercept, infliximab, and adalimumab became useful in the therapeutic armamentarium to treat rheumatoid arthritis (RA) patients who had an inadequate response to disease-modifying anti-rheumatic drugs (DMARDs). However, all phase-III clinical trials submitted to the FDA, by design, excluded patients who were human immunodeficiency virus (HIV) positive. They are another subset of patients with low immunity due to their HIV-positive status. Very little information is available about the use of biologics in this new group of patients if they fail to respond to DMARDS. The available literature is limited to case reports about HIV-positive RA patients with reported side effects. These side effects range from no opportunistic infections (OIs) in some to acute respiratory distress syndrome (ARDS) and disseminated intravascular coagulopathy (DIC) reported in others. Some HIV cases may initially present with rheumatological manifestations. With growing epidemiologic evidence of frequent joint manifestations in HIV-positive patients, HIV testing should be done more frequently in patients with RA, even those who deny risk factors for HIV. This review may help develop future guidelines on how to manage HIV-positive RA patients.
Impaired Postnatal Myelination in a Conditional Knockout Mouse for the Ferritin Heavy Chain in Oligodendroglial Cells.
The Journal of neuroscience : the official journal of the Society for Neuroscience, 2020

To define the importance of iron storage in oligodendrocyte development and function, the ferritin heavy subunit (Fth) was specifically deleted in oligodendroglial cells. Blocking Fth synthesis in Sox10 or NG2-positive oligodendrocytes during the first or the third postnatal week significantly reduces oligodendrocyte iron storage and maturation. The brain of Fth KO animals presented an important decrease in the expression of myelin proteins and a substantial reduction in the percentage of myelinated axons. This hypomyelination was accompanied by a decline in the number of myelinating oligodendrocytes and with a reduction in proliferating oligodendrocyte progenitor cells (OPCs). Importantly, deleting Fth in Sox10-positive oligodendroglial cells after postnatal day 60 has no effect on myelin production and/or oligodendrocyte quantities. We also tested the capacity of Fth-deficient OPCs to remyelinate the adult brain in the cuprizone model of myelin injury and repair. Fth deletion in NG2-positive OPCs significantly reduces the number of mature oligodendrocytes and myelin production throughout the remyelination process. Furthermore, the corpus callosum of Fth KO animals presented a significant decrease in the percentage of remyelinated axons and a substantial reduction in the average myelin thickness. These results indicate that Fth synthesis during the first three postnatal weeks is important for an appropriate oligodendrocyte development, and suggest that Fth iron storage in adult OPCs is also essential for an effective remyelination of the mouse brain.
Reward Dysfunction in the Manic Spectrum: Unable to Win? The Use of Biographical Information to Refine Neurobiological Modeling.
Journal of psychiatric practice, 2017

The manic spectrum is thought to be characterized by a hypersensitive biobehavioral reward system, the behavioral activation system. Evidence for this framework comes from questionnaire-based, self-report data collected in cross-sectional and prospective studies of mania, mania in remission, and proneness to hypomania, and from functional neuroimaging investigations of brain reward circuit activity during incentivized choice protocols. Although heightened reward anticipation is consistently documented, the status of later goal attainment activity, hedonic responses, and satiety reactions is less clear. This report examines the status of such reward receipt processes as they operate in the manic spectrum.
Change in agreement between stroke survivors and their significant others on the severity of restrictions of functioning in a 1-year follow-up.
International journal of rehabilitation research. Internationale Zeitschrift fur Rehabilitationsforschung. Revue internationale de recherches de readaptation, 2015

The aim of this study was to assess the agreement between stroke survivors and their significant others on the severity of restrictions of functioning and to investigate the change in this agreement in a 1-year follow-up. The 41 stroke survivors and their significant others assessed the severity of impairment at the end of in-patient interdisciplinary neurorehabilitation and 1 year later using a structured form based on International Classification of Functioning, Disability and Health (ICF). The main outcomes were as follows: (i) change in the severity score of each observer on a particular restriction (intraobserver change); (ii) change in difference in severity scores within each observer pair (interobserver change); and (iii) change in agreement between interobserver differences in severity scores during a 1-year follow-up. The significant others identified more restrictions at baseline (256 vs. 194 ICF categories, χ2 P=0.004) than the rehabilitants did. After 1 year, this difference became insignificant (218 vs. 207 ICF categories, χ2 P=0.59). The severity of perceived restrictions did not differ over time (all P>0.05). Although significant others rated the restrictions as slightly more severe than rehabilitants, the difference was not significant. The agreement between severity scores within observer pairs showed a tendency to improve during a 1-year follow-up. Statistically significant improvements in Cohen's κ agreement were found for muscle power (0.6-1.0), walking (0.7-0.9), eating (0.7-1.0) and immediate family support (0.5-0.8). The agreement between stroke survivors and their significant others on the severity of the restrictions of functioning showed a tendency to improve over time.
Endogenous erythropoietin signaling regulates migration and laminar positioning of upper-layer neurons in the developing neocortex.
Development (Cambridge, England), 2020

Erythropoietin (EPO), the hypoxia-inducible hematopoietic hormone, has well-established neuroprotective/neurotrophic roles in the developing central nervous system and the therapeutic potential of EPO has been widely explored in clinical studies for the treatment of perinatal hypoxic brain lesion, as well as prematurity. Here, we reveal that both EPO and Epo receptor (EPOR) are expressed in the developing rat somatosensory cortex during radial migration and laminar positioning of granular and supragranular neurons. Experimental deregulation of EPO signaling using genetic approaches results in aberrant migration, as well as permanent neuronal misplacement leading to abnormal network activity and protracted sensory behavioral deficits. We identify ERK as the downstream effector of the EPO signaling pathway for neuronal migration. These findings reveal a crucial role for endogenous EPO signaling in neuronal migration, and offer important insights for understanding how the temporary deregulation of EPO could result in migration defects that lead to abnormal behavior in the adult.
Apolipoprotein E genotype does not influence the risk of symptomatic hemorrhage in acute ischemic stroke.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia, 2021

APOE ε4 is independently associated with lobar intracranial hemorrhages (ICH). Although the ε4 allele enhances amyloid deposition in blood vessels, the ε2 allele predisposes to vasculopathic changes leading to rupture of amyloid laden vessels. Thus, ε4 and ε2 carriers might have increased susceptibility to ICH. We aimed to study the impact of the apolipoprotein E alleles in the development of symptomatic ICH (sICH).
[Hypnosis and orthodontic treatments].
L' Orthodontie francaise, 2019

After being discarded from hospitals due to its lack of scientific evidence, medical hypnosis is once more in the spotlight thanks to neuroscience and medical imaging, which have proven its specificity. Medical hypnosis is currently enjoying real enthusiasm, and now the doors are opening not only to medical and surgical units but also to our orthodontic clinics.
Different Cognitive and Functional Outcomes in Attenuated and Full Delirium Syndromes Among Recent Stroke Survivors.
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association, 2020

Very little is known about the outcomes of poststroke delirium in relation to its symptom spectrum. We investigated the 3-months cognitive and functional outcomes of attenuated (ADS) and full delirium syndromes in Nigerian survivors of first ever stroke.
Novel Acute Retinal Artery Ischemia and Reperfusion Model in Nonhuman Primates.
Stroke, 2020

The retina, as an externally located neural tissue, offers unique advantages in investigating the effect of therapeutic intervention on the brain. In this study, we put forth a clinically relevant model of retinal ischemia and reperfusion in nonhuman primates.
Stimulated by retinoic acid gene 8 (STRA8) interacts with the germ cell specific bHLH factor SOHLH1 and represses c-KIT expression in vitro.
Journal of cellular and molecular medicine, 2021

STRA8 (Stimulated by Retinoic Acid Gene 8) controls the crucial decision of germ cells to engage meiotic division up and down-regulating genes involved in the meiotic programme. It has been proven as an amplifier of genes involved in cell cycle control and chromosome events, however, how STRA8 functions as negative regulator are not well understood. In this study, we demonstrate that STRA8 can interact with itself and with other basic Helix-Loop-Helix (bHLH) transcription factors through its HLH domain and that this domain is important for its ability to negatively interfere with the Ebox-mediated transcriptional activity of bHLH transcription factors. Significantly, we show that STRA8 interacts with TCF3/E47, a class I bHLH transcription factors, and with SOHLH1, a gonadal-specific bHLH, in male germ cells obtained from prepuberal mouse testis. We demonstrated that STRA8, indirectly, is able to exert a negative control on the SOHLH1-dependent stimulation of c-KIT expression in late differentiating spermatogonia and preleptotene spermatocytes. Although part of this results were obtained only 'in vitro', they support the notion that STRA8 interacting with different transcription factors, besides its established role as 'amplifier' of meiotic programme, is able to finely modulate the balance between spermatogonia proliferation, differentiation and acquisition of meiotic competence.
Hyperactive sensorimotor cortex during voice perception in spasmodic dysphonia.
Scientific reports, 2020

Spasmodic dysphonia (SD) is characterized by an involuntary laryngeal muscle spasm during vocalization. Previous studies measured brain activation during voice production and suggested that SD arises from abnormal sensorimotor integration involving the sensorimotor cortex. However, it remains unclear whether this abnormal sensorimotor activation merely reflects neural activation produced by abnormal vocalization. To identify the specific neural correlates of SD, we used a sound discrimination task without overt vocalization to compare neural activation between 11 patients with SD and healthy participants. Participants underwent functional MRI during a two-alternative judgment task for auditory stimuli, which could be modal or falsetto voice. Since vocalization in falsetto is intact in SD, we predicted that neural activation during speech perception would differ between the two groups only for modal voice and not for falsetto voice. Group-by-stimulus interaction was observed in the left sensorimotor cortex and thalamus, suggesting that voice perception activates different neural systems between the two groups. Moreover, the sensorimotor signals positively correlated with disease severity of SD, and classified the two groups with 73% accuracy in linear discriminant analysis. Thus, the sensorimotor cortex and thalamus play a central role in SD pathophysiology and sensorimotor signals can be a new biomarker for SD diagnosis.
Cognitive profiles in older males and females.
Scientific reports, 2021

Males and females are subject to differences in cognitive processing strategies, i.e. the way males and females solve cognitive tasks. So far primarily reported for younger adults, this seems to be especially important in older adults, who also show sex differences in cognitive impairments. Therefore, the aim of the current study was to examine the older adult population with respect to cognitive profiles derived from a large variety of cognitive functions. Using an exploratory component analysis with consecutive confirmatory factor analysis in a sample of 676 older adults, neuropsychological performance data in a variety of cognitive domains was decomposed into cognitive components. A general cognitive profile based on the whole group fits unequally well on the two sexes. Importantly, cognitive profiles based on either males or females differ in terms of their composition of cognitive components, i.e. three components in males versus four components in females, with a generally better model fit in females. Thus, related to the established differences in processing styles between males and females the current study found a rather decomposed (or local) cognitive profile in females while males seem to show a holistic (or global) cognitive profile, with more interrelations between different cognitive functions.
Distinct hierarchical alterations of intrinsic neural timescales account for different manifestations of psychosis.
eLife, 2020

Hierarchical perceptual-inference models of psychosis may provide a holistic framework for understanding psychosis in schizophrenia including heterogeneity in clinical presentations. Particularly, hypothesized alterations at distinct levels of the perceptual-inference hierarchy may explain why hallucinations and delusions tend to cluster together yet sometimes manifest in isolation. To test this, we used a recently developed resting-state fMRI measure of intrinsic neural timescale (INT), which reflects the time window of neural integration and captures hierarchical brain gradients. In analyses examining extended sensory hierarchies that we first validated, we found distinct hierarchical INT alterations for hallucinations versus delusions in the auditory and somatosensory systems, thus providing support for hierarchical perceptual-inference models of psychosis. Simulations using a large-scale biophysical model suggested local elevations of excitation-inhibition ratio at different hierarchical levels as a potential mechanism. More generally, our work highlights the robustness and utility of INT for studying hierarchical processes relevant to basic and clinical neuroscience.
Characterization of rare spindle and root cell transcriptional profiles in the stria vascularis of the adult mouse cochlea.
Scientific reports, 2020

The stria vascularis (SV) in the cochlea generates and maintains the endocochlear potential, thereby playing a pivotal role in normal hearing. Knowing transcriptional profiles and gene regulatory networks of SV cell types establishes a basis for studying the mechanism underlying SV-related hearing loss. While we have previously characterized the expression profiles of major SV cell types in the adult mouse, transcriptional profiles of rare SV cell types remained elusive due to the limitation of cell capture in single-cell RNA-Seq. The role of these rare cell types in the homeostatic function of the adult SV remain largely undefined. In this study, we performed single-nucleus RNA-Seq on the adult mouse SV in conjunction with sample preservation treatments during the isolation steps. We distinguish rare SV cell types, including spindle cells and root cells, from other cell types, and characterize their transcriptional profiles. Furthermore, we also identify and validate novel specific markers for these rare SV cell types. Finally, we identify homeostatic gene regulatory networks within spindle and root cells, establishing a basis for understanding the functional roles of these cells in hearing. These novel findings will provide new insights for future work in SV-related hearing loss and hearing fluctuation.
Typical retinotopic locations impact the time course of object coding.
NeuroImage, 2018

In everyday visual environments, objects are non-uniformly distributed across visual space. Many objects preferentially occupy particular retinotopic locations: for example, lamps more often fall into the upper visual field, whereas carpets more often fall into the lower visual field. The long-term experience with natural environments prompts the hypothesis that the visual system is tuned to such retinotopic object locations. A key prediction is that typically positioned objects should be coded more efficiently. To test this prediction, we recorded electroencephalography (EEG) while participants viewed briefly presented objects appearing in their typical locations (e.g., an airplane in the upper visual field) or in atypical locations (e.g., an airplane in the lower visual field). Multivariate pattern analysis applied to the EEG data revealed that object classification depended on positional regularities: Objects were classified more accurately when positioned typically, rather than atypically, already at 140 ms, suggesting that relatively early stages of object processing are tuned to typical retinotopic locations. Our results confirm the prediction that long-term experience with objects occurring at specific locations leads to enhanced perceptual processing when these objects appear in their typical locations. This may indicate a neural mechanism for efficient natural scene processing, where a large number of typically positioned objects needs to be processed.
Tafazzin Mutation Affecting Cardiolipin Leads to Increased Mitochondrial Superoxide Anions and Mitophagy Inhibition in Barth Syndrome.
Cells, 2020

Tafazzin is a phospholipid transacylase that catalyzes the remodeling of cardiolipin, a mitochondrial phospholipid required for oxidative phosphorylation. Mutations of the tafazzin gene cause Barth syndrome, which is characterized by mitochondrial dysfunction and dilated cardiomyopathy, leading to premature death. However, the molecular mechanisms underlying the cause of mitochondrial dysfunction in Barth syndrome remain poorly understood. We again highlight the fact that the tafazzin deficiency is also linked to defective oxidative phosphorylation associated with oxidative stress. All the mitochondrial events are positioned in a context where mitophagy is a key element in mitochondrial quality control. Here, we investigated the role of tafazzin in mitochondrial homeostasis dysregulation and mitophagy alteration. Using a HeLa cell model of tafazzin deficiency, we show that dysregulation of tafazzin in HeLa cells induces alteration of mitophagy. Our findings provide some additional insights into mitochondrial dysfunction associated with Barth syndrome, but also show that mitophagy inhibition is concomitant with apoptosis dysfunction through the inability of abnormal mitochondrial cardiolipin to assume its role in cytoplasmic signal transduction. Our work raises hope that pharmacological manipulation of the mitophagic pathway together with mitochondrially targeted antioxidants may provide new insights leading to promising treatment for these highly lethal conditions.
Phosphorylation of the mRNA cap-binding protein eIF4E and cancer.
Cellular signalling, 2020

Dysregulated protein synthesis is frequently involved in oncogenesis and cancer progression. Translation initiation is thought to be the rate-limiting step in protein synthesis, and the mRNA 5' cap-binding protein eukaryotic translation initiation factor 4E (eIF4E) is a pivotal factor that initiates translation. The activities of eIF4E are regulated at multiple levels, one of which is through its phosphorylation at Serine 209 by the mitogen-activated protein kinase-interacting kinases (MNKs, including MNK1 and MNK2). Benefiting from novel mouse genetic tools and pharmacological MNK inhibitors, our understanding of a role for eIF4E phosphorylation in tumor biology and cancer therapy has greatly evolved in recent years. Importantly, recent studies have found that the level of eIF4E phosphorylation is frequently upregulated in a wide variety of human cancer types, and phosphorylation of eIF4E drives a number of important processes in cancer biology, including cell transformation, proliferation, apoptosis, metastasis and angiogenesis. The MNK-eIF4E axis is being assessed as a therapeutic target either alone or in combination with other therapies in different cancer models. As novel MNK inhibitors are being developed, experimental studies bring new hope to cure human cancers that are not responsive to traditional therapies. Herein we review recent progress on our understanding of a mechanistic role for phosphorylation of eIF4E in cancer biology and therapy.