rudyvdbrink/CitationDatabase huggingface dataset:
Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin.
Scientific reports, 2020

Pure sensory polyneuropathy of genetic origin is rare in childhood and hence important to document the clinical and genetic etiologies from single or multi-center studies. This study focuses on a retrospective chart-review of neurological examinations and genetic and electrodiagnostic data of confirmed sensory polyneuropathy in subjects at a tertiary-care Children's Hospital from 2013 to 2019. Twenty subjects were identified and included. Neurological examination and electrodiagnostic testing showed gait-difficulties, absent tendon reflexes, decreased joint-position, positive Romberg's test and large fiber sensory polyneuropathy on sensory nerve conduction studies in all patients associated with lower-extremity spasticity (6), cardiac abnormalities or cardiomyopathy (5), developmental delay (4), scoliosis (3), epilepsy (3) and hearing-difficulties (2). Confirmation of genetic diagnosis in correlation with clinical presentation was obtained in all cases (COX20 n = 2, HADHA n = 2, POLG n = 1, FXN n = 4, ATXN2 n = 3, ATM n = 3, GAN n = 2, SPG7 n = 1, ZFYVE26 n = 1, FH n = 1). Our single-center study shows genetic sensory polyneuropathies associated with progressive neurodegenerative disorders such as mitochondrial ataxia, Friedreich ataxia, spinocerebellar ataxia type 2, ataxia telangiectasia, spastic paraplegia, giant axonal neuropathy, and fumarate hydratase deficiency. We also present our cohort data in light of clinical features reported for each gene-specific disease subtype in the literature and highlight the importance of genetic testing in the relevant clinical context of electrophysiological findings of peripheral sensory polyneuropathy.
Association of depressive symptoms and socioeconomic status in determination of blood pressure levels and hypertension: The CONSTANCES population based study.
Journal of affective disorders, 2021

Inconsistent association between depression and hypertension has been highlighted. The association of depression with blood pressure (BP) might depend upon socioeconomic status (SES), but evidence remains weak.
Instrumental learning: an animal model for sleep dependent memory enhancement.
Journal of neuroscience methods, 2013

The relationship between learning and sleep is multifaceted; learning influences subsequent sleep characteristics, which may in turn influence subsequent memory. Studies in humans indicate that sleep may not only prevent degradation of acquired memories, but even enhance performance without further practice. In a rodent instrumental learning task, individual differences occur in how fast rats learn to associate lever pressing with food reward. Rats habitually sleep between learning sessions, and may differ in this respect. The current study assessed if the instrumental leaning paradigm could serve as a model to study sleep-dependent memory enhancement. Male Wistar rats performed 2 sessions of instrumental learning per day for 1-3 days. Electroencephalography was recorded both before and after the sessions. Sleep deprivation (3 h) was applied between the first and second session in a subgroup of rats. Measurements comprised the number of lever presses in each session, slow wave sleep (SWS) duration, Rapid Eye Movement Sleep (REMS) duration and sleep spindles. Baseline sleep parameters were similar for fast and slow learning rats. Task-exposure increased REMS-duration. The increase in REMS-duration was observed specifically after sessions in which learning occurred, but not after a later session. Sleep deprivation during the 3h period between the initial two sessions interfered with performance enhancement, but did not prevent this in all rats. Our considered movement control protocol induced partial sleep deprivation and also interfered with performance enhancement. The classic instrumental learning task provides a practical model for animal studies on sleep-dependent memory enhancement.
Differences in psychiatric care utilisation among unaccompanied refugee minors, accompanied migrant minors, and Swedish-born minors.
Social psychiatry and psychiatric epidemiology, 2020

To better understand underutilisation of psychiatric care among migrant children, we compared utilisation of psychiatric care among unaccompanied refugee minors and accompanied migrant minors, with Swedish-born minors.
Bulbospinal connections to intercostal motoneurones following a chronic lateral spinal cord lesion.
Respiratory physiology & neurobiology, 2021

Previous evidence from electrophysiological experiments in anaesthetized cats with a chronic lateral lesion of the lower thoracic spinal cord indicated an expansion of the functional projections of expiratory bulbospinal neurones (EBSNs) in the segment above the lesion, measured at 16 weeks post-lesion. Here we investigate connections made by the same EBSNs to motoneurones in that segment, using cross-correlations between their discharges. The connections to the internal intercostal nerve motoneurones were found to be no different from controls. However, a significant increase was found in the number of connections between EBSNs and γ motoneurones of the external intercostal nerve (8/24, compared to 1/16) with possibly additional connections to the α motoneurones of the same nerve. Increased connections to the γ motoneurones of the internal intercostal nerve could not be ruled out. The expanded functional projections are thus likely to include new connections to γ motoneurones. We suggest that γ motoneurones may be inherently more receptive to new inputs. If so, the previously discounted role of abnormal fusimotor discharges in motor disorders would be worth reconsideration.
Abscission Couples Cell Division to Embryonic Stem Cell Fate.
Developmental cell, 2020

Cell fate transitions are key to development and homeostasis. It is thus essential to understand the cellular mechanisms controlling fate transitions. Cell division has been implicated in fate decisions in many stem cell types, including neuronal and epithelial progenitors. In other stem cells, such as embryonic stem (ES) cells, the role of division remains unclear. Here, we show that exit from naive pluripotency in mouse ES cells generally occurs after a division. We further show that exit timing is strongly correlated between sister cells, which remain connected by cytoplasmic bridges long after division, and that bridge abscission progressively accelerates as cells exit naive pluripotency. Finally, interfering with abscission impairs naive pluripotency exit, and artificially inducing abscission accelerates it. Altogether, our data indicate that a switch in the division machinery leading to faster abscission regulates pluripotency exit. Our study identifies abscission as a key cellular process coupling cell division to fate transitions.
Discovering neurosurgery: new frontiers.
Journal of neurosurgery, 2011

Over the centuries, discoveries of lands unknown, treasures lost and buried, and formulas to delineate physicochemical processes have led to advancements in our understanding of how the world is structured and governed. In science and medicine, discoveries are frequently made following deliberate periods of observation and experimentation to test hypotheses. However, in some instances, discoveries may arise either following a "eureka moment" that transcends rigorous scientific experimentation or following a serendipitous observation. In many instances, scientific discoveries will lead to new inventions that are aimed at improving the manner in which tasks or operations are performed. In this address, some of the key discoveries in science and medicine that have impacted significantly on the field of neurosurgery are described. Some of these include discoveries in neuroanatomy, anesthesiology, infectious diseases, antisepsis, and radiology. Discoveries in the field of molecular science, from the discovery of DNA to next-generation DNA sequencing, which have helped improve the diagnosis and prognosis of neurosurgical patients with conditions such as brain tumors, are also described. In the end, these discoveries have led us to new frontiers in the subspecialty practice of neurosurgery. Navigating our way through these new frontiers will undoubtedly lead to additional discoveries that are unimaginable at present but bound to improve the future care of neurosurgical patients.
The Sensory World of Fish and Fisheries: The Impact of Human Activities.
Integrative zoology, 2014

This special issue of Integrative Zoology (the official journal of the International Society of Zoological Sciences and the Institute of Zoology, Chinese Academy of Sciences) is dedicated to the sensory world of fish and fisheries and the impacts of human activities. The papers in this issue are the outcome of an international conference that was held at the Institute of Marine Biosystem and Neurosciences, College of Fisheries and Life Science, Shanghai Ocean University, Shanghai, China from October 29 to November 1, 2012. The conference was generously sponsored by The Shanghai Ocean University, The University of Maryland, and The University of Western Australia. As co-organisers of this international meeting we are indebted to the former president of the Shanghai Ocean University, President Yingjie Pan and the other members of the organising Committee for their generous support to enable leading scientists in the fields of sensory ecology, behaviour, environmental management and fisheries science from both China and overseas to join the meeting and contribute to this issue. This article is protected by copyright. All rights reserved.
Adipocytokines: Are they the Theory of Everything?
Cytokine, 2020

Adipose tissue secretes various bioactive peptides/proteins, immune molecules and inflammatory mediators which are known as adipokines or adipocytokines. Adipokines play important roles in the maintenance of energy homeostasis, appetite, glucose and lipid metabolism, insulin sensitivity, angiogenesis, immunity and inflammation. Enormous number of studies from all over the world proved that adipocytokines are involved in the pathogenesis of diseases affecting nearly all body systems, which raises the question whether we can always blame adipocytokines as the triggering factor of every disease that may hit the body.
With a little help from my friends: The effect of social proximity on emotion regulation-related brain activity.
NeuroImage, 2021

When experiencing negative emotions, individuals often reach out for social support to help regulate their emotions. In times of an acute crisis, however, close friends might not be available, and physical closeness might be impossible. This functional magnetic resonance imaging (fMRI) study investigated the effect of social proximity on the effectiveness of social support for regulating emotions and the underlying neural mechanisms. Participants regulated their emotions in response to negative images either alone (intrapersonal regulation), or with help of a picture and supporting sentence provided by the best friend, or by a stranger (interpersonal regulation). Regulation success was enhanced for the support of friends compared to regulating alone or with the support of strangers. This effect was accompanied by the interplay of large-scale brain networks involved in processing emotions, social cognition, and cognitive control. Interpersonal regulation appeared to be implemented by lateral prefrontal regions. The amygdala showed increased activation for strangers. The activation profile of the social cognition network suggests a role in supporting empathic and mentalizing processes. The results highlight the power of social connectedness for boosting emotion regulation ability and the different neural networks that contribute to this effect.
H-magnetic resonance spectroscopy: diagnostic tool in recurrent headache in systemic lupus erythematosus. A case report.
Radiology case reports, 2019

We describe serial MR-spectroscopy studies in a patient with systemic lupus erythematosus and headache. We used MR-spectroscopy to monitor disease activity during periods with and without headache. MR-spectroscopy investigates metabolic alterations and was used to explore the pathophysiological mechanism involved in the complications of systemic lupus erythematosus. Our patient underwent serial conventional MRI and MR-spectroscopy at times of controlled and uncontrolled headache, with or without visual aura. MR-spectroscopy showed an increase in the choline/creatine ratio in thalamus and posterior white matter only during periods of uncontrolled headache with visual aura. Conventional MRI scans were normal at all times. MR-spectroscopy should be used in the diagnosis and follow-up of headache in patients with systemic lupus erythematosus.
Autopsy of malignant paraganglioma causing compressive myelopathy due to vertebral metastases.
Neuropathology : official journal of the Japanese Society of Neuropathology, 2020

Paraganglioma is a neuroendocrine tumor arising from extra-adrenal sites in the peripheral nervous system. Although malignant paraganglioma is known to metastasize to bones, including vertebral bodies, there is little literature on the compressive myelopathy accompanied by sphincter dysfunction; to our knowledge, only 12 cases have been reported. Moreover, neuropathological investigations of the spinal cord in this state have not been well-documented. This autopsy report describes a 55-year-old man with malignant paraganglioma and compression myelopathy caused by vertebral metastasis. The present case showed a gradual numbness and a sudden onset of irreversible paraplegia with sphincter dysfunction, which were not palliated these neurologic dysfunctions despite radiotherapy. Computed tomography (CT) revealed multiple metastases to the bones, lymph nodes, and lungs when he was diagnosed with malignant paraganglioma. At the same time, he had numbness, and magnetic resonance imaging (MRI) showed multiple diffuse metastatic lesions in the vertebral bodies. Following abrupt onset of paralysis, MRI showed fractured third and sixth thoracic vertebral bodies. An autopsy revealed residual vertebral metastases with fractures of the third and sixth thoracic vertebral bodies, resulting in compressive myelopathy at the fourth thoracic segment, which was characterized by complete spinal cord destruction. Destructive spinal cord lesion-induced secondary degeneration was observed in the gracile fasciculus at the rostral side and in the pyramidal tract at the caudal side, which showed Wallerian degeneration. Such pathology was consistent with the presenting neurological symptoms, including paraplegia and somatic sensory loss below the fourth thoracic spinal cord segment. Although it is difficult to identify the pathognomonic morphological changes responsible for the sphincter dysfunction, the present case suggests a supranuclear dysregulation of the somatosensory and central autonomic nervous systems involved in urination and defecation. Based on a review of the literature and the features of the present case, paraganglioma can metastasize aggressively even with a low pathological grading. This case of vertebral metastasis as a result of malignant paraganglioma may not be extraordinary but the autopsy report is rare. This autopsy revealed transverse myelopathy as a result of malignant vertebral metastasis of malignant paraganglioma.
Clear cell degeneration associated with endometriosis of abdominal wall after cesarean section: A case report and systematic review of literature.
The journal of obstetrics and gynaecology research, 2021

The scar of cesarean section (CS) is the most common site of abdominal wall endometriosis (AWE), whose tumor degeneration has been reported in an increasing number of cases; the most frequent histological type is clear cell carcinoma (CCC).
Sensation seeking and neuroticism in fear conditioning and extinction: The role of avoidance behaviour.
Behaviour research and therapy, 2020

Maladaptive avoidance behaviour, a key symptom of anxiety-related disorders, prevents extinction learning and maintains anxiety. Individual personality traits likely influence avoidance propensity: high sensation-seeking may decrease avoidance, thereby increasing extinction, and neuroticism may have the reverse effect. However, research on this is scarce. Using a naturalistic conditioned avoidance paradigm, 163 women underwent differential fear acquisition to a conditioned stimulus (CSplus). Next, during extinction, participants could either choose a risky shortcut, anticipating shock signalled by CSplus, or a time-consuming avoidance option (lengthy detour). Across participants, increased skin conductance (SCR) acquisition learning predicted subsequent instrumental avoidance. Avoidance, in turn, predicted elevated post-extinction SCR and shock-expectancy, i.e., 'protection-from-extinction'. Mediation analyses revealed that sensation seeking decreased protection-from-extinction-both for shock-expectancy and SCR-via attenuating avoidance. Neither sensation seeking nor neuroticism were related to acquisition learning and neuroticism was neither related to avoidance nor extinction. Transcranial direct currentstimulation administered before extinction did not influence present results. Results highlight the important role of elevated avoidance propensity in fear maintenance. Results moreover provide evidence for reduced sensation-seeking and increased acquisition learning to be avoidance-driving mechanisms. Since approach-avoidance conflicts are faced by anxiety patients on a daily basis, strengthening sensation-seeking-congruent attitudes and approach behaviours may optimize individualized treatment.
Adaptive optics two-photon endomicroscopy enables deep-brain imaging at synaptic resolution over large volumes.
Science advances, 2020

Optical deep-brain imaging in vivo at high resolution has remained a great challenge over the decades. Two-photon endomicroscopy provides a minimally invasive approach to image buried brain structures, once it is integrated with a gradient refractive index (GRIN) lens embedded in the brain. However, its imaging resolution and field of view are compromised by the intrinsic aberrations of the GRIN lens. Here, we develop a two-photon endomicroscopy by adding adaptive optics based on direct wavefront sensing, which enables recovery of diffraction-limited resolution in deep-brain imaging. A new precompensation strategy plays a critical role to correct aberrations over large volumes and achieve rapid random-access multiplane imaging. We investigate the neuronal plasticity in the hippocampus, a critical deep brain structure, and reveal the relationship between the somatic and dendritic activity of pyramidal neurons.
Cell Replacement Therapy Improves Pathological Hallmarks in a Mouse Model of Leukodystrophy Vanishing White Matter.
Stem cell reports, 2019

Stem cell therapy has great prospects for brain white matter disorders, including the genetically determined disorders called leukodystrophies. We focus on the devastating leukodystrophy vanishing white matter (VWM). Patients with VWM show severe disability and early death, and treatment options are lacking. Previous studies showed successful cell replacement therapy in rodent models for myelin defects. However, proof-of-concept studies of allogeneic cell replacement in models representative of human leukodystrophies are lacking. We tested cell replacement in a mouse model representative of VWM. We transplanted different murine glial progenitor cell populations and showed improved pathological hallmarks and motor function. Improved mice showed a higher percentage of transplanted cells that differentiated into GFAP
Foetal neural progenitors contribute to postnatal circuits formation ex vivo: an electrophysiological investigation.
Molecular brain, 2020

Neuronal progenitor cells (NPC) play an essential role in homeostasis of the central nervous system (CNS). Considering their ability to differentiate into specific lineages, their manipulation and control could have a major therapeutic impact for those CNS injuries or degenerative diseases characterized by neuronal cell loss. In this work, we established an in vitro co-culture and tested the ability of foetal NPC (fNPC) to integrate among post-mitotic hippocampal neurons and contribute to the electrical activity of the resulting networks. We performed extracellular electrophysiological recordings of the activity of neuronal networks and compared the properties of spontaneous spiking in hippocampal control cultures (HCC), fNPC, and mixed circuitries ex vivo. We further employed patch-clamp intracellular recordings to examine single-cell excitability. We report of the capability of fNPC to mature when combined to hippocampal neurons, shaping the profile of network activity, a result suggestive of newly formed connectivity ex vivo.
BAG3 and BAG6 differentially affect the dynamics of stress granules by targeting distinct subsets of defective polypeptides released from ribosomes.
Cell stress & chaperones, 2020

Stress granules (SGs) are dynamic ribonucleoprotein granules induced by environmental stresses. They play an important role in the stress response by integrating mRNA stability, translation, and signaling pathways. Recent work has connected SG dysfunction to neurodegenerative diseases. In these diseases, SG dynamics are impaired because of mutations in SG proteins or protein quality control factors. Impaired SG dynamics and delayed SG dissolution have also been observed for SGs that accumulate misfolding-prone defective ribosomal products (DRiPs). DRiP accumulation inside SGs is controlled by a surveillance system referred to as granulostasis and encompasses the molecular chaperones VCP and the HSPB8-BAG3-HSP70 complex. BAG3 is a member of the BAG family of proteins, which includes five additional members. One of these proteins, BAG6, is functionally related to BAG3 and able to assist degradation of DRiPs. However, whether BAG6 is involved in granulostasis is unknown. We report that BAG6 is not recruited into SGs induced by different types of stress, nor does it affect SG dynamics. BAG6 also does not replace BAG3's function in SG granulostasis. We show that BAG3 and BAG6 target different subsets of DRiPs, and BAG3 binding to DRiPs is mediated by HSPB8 and HSP70. Our data support the idea that SGs are sensitive to BAG3-HSP70-bound DRiPs but not to BAG6-bound DRiPs. Additionally, only BAG3 is strongly upregulated in the stress recovery phase, when SGs dissolve. These data exclude a role for BAG6 in granulostasis and point to a more specialized function in the clearance of a specific subset of DRiPs.
Females Are More Resistant to Ischemia-Reperfusion-induced Intestinal Injury Than Males: A Human Study.
Annals of surgery, 2020

Sex differences in responses to intestinal ischemia-reperfusion (IR) have been recognized in animal studies. We aimed to investigate sexual dimorphism in human small intestinal mucosal responses to IR.
The use of triangular implants to enhance sacropelvic fixation: a finite element investigation.
The spine journal : official journal of the North American Spine Society, 2020

Long thoracolumbar fixation and fusion have become a consolidated treatment for severe spinal disorders. Concomitant sacropelvic fixation with S2 alar-iliac (S2AI) screws is frequently performed to limit instrumentation failure and pseudarthrosis at the lumbosacral junction.