rudyvdbrink/CitationDatabase huggingface dataset:
The conditioned eyeblink reflex: a potential tool for the detection of cerebellar dysfunction in multiple sclerosis.
Multiple sclerosis (Houndmills, Basingstoke, England), 2011

The delayed conditioned eyeblink reflex, in which an individual learns to close the eyelid in response to a conditioned stimulus (e.g. a tone) relies entirely on the functional integrity of a cerebellar motor circuitry that involves the contingent activation of Purkinje cells by parallel and climbing fibres. Molecular changes that disrupt the function of this circuitry, in particular a loss of type-1 metabotropic glutamate receptors (mGlu1 receptors), occur in Purkinje cells of patients with multiple sclerosis and in mice with experimental autoimmune encephalomyelitis as a result of neuroinflammation. mGlu1 receptors are required for cerebellar motor learning associated with the conditioned eyeblink reflex. We propose that the delayed paradigm of the eyeblink conditioning might be particularly valuable for the detection of subtle abnormalities of cerebellar motor learning that are clinically silent and are not associated with demyelinating lesions or axonal damage. In addition, the test might have predictive value following a clinically isolated syndrome, and might be helpful for the evaluation of the efficacy of drug treatment in multiple sclerosis.
Macroscopic Hematuria as the Initial Presentation of Polycythemia Vera.
Cureus, 2020

Polycythemia vera (PV) is a chronic myeloproliferative neoplasm (CMN) characterized by the accumulation of red blood cells, granulocytes and platelets in the peripheral blood. The main complications of PV are an increased risk of thrombosis, bleeding and transformation to myelodysplasia or acute leukemia. The authors report the case of a 28-year-old man with a complaint of macroscopic hematuria, low back pain and edema of the left arm associated with elevated hemoglobin, hematocrit and lactic dehydrogenase, leukocytosis and increased renal volume. Computed tomography of the chest and abdomen with contrast showed venous ectasia in the left upper limb and thrombosis of the right renal vein with extension to the inferior vena cava. A diagnosis of PV was confirmed by the presence of the JAK2 mutation and a bone marrow biopsy that showed panmyelosis. The patient was anticoagulated and treatment for PV was started with aspirin, phlebotomy and hydroxyurea. Then, the patient was discharged for outpatient follow-up with a hematologist. The case emphasizes the importance of clinical suspicion for atypical presentation of the disease in an unusual age range and of adequate etiological investigation of thrombosis in unusual sites.
The Norovirus epidemic...or just a stone? Revising the diagnosis with an abdominal radiograph.
BMJ case reports, 2013

During an acute outbreak of Norovirus in the local area, a 77-year-old woman was admitted with a short history of diarrhoea and vomiting. A working diagnosis of viral gastroenteritis complicated by acute renal failure, secondary to dehydration, was made. Despite judicious fluid resuscitation and regular antiemetics, the patient's symptoms persisted with only mild improvement in her renal function. An abdominal radiograph revealed evidence of significant small bowel obstruction and subsequent CT of the abdomen and pelvis identified a 1.5 cm intraluminal density at a transition point raising the suspicion of gallstone ileus. An urgent laparotomy with stone removal was carried out without complications. The patient recovered well postoperatively and was discharged home after 3 days.
Exposure to adversity and inflammatory outcomes in mid and late childhood.
Brain, behavior, & immunity - health, 2020

We aimed to estimate the association between exposure to adversity and inflammatory markers in mid (4 years) and late (11-12 years) childhood, and whether effects differ by type and timing of exposure.
Erratum to: Genetically-controlled Vesicle-Associated Membrane Protein 1 expression may contribute to Alzheimer's pathophysiology and susceptibility.
Molecular neurodegeneration, 2015

Following publication of this work, we noticed that we inadvertently failed to include Dr Ferenc Deák in the author list. The author list has now been corrected and the amended authors' contributions section has been modified accordingly below.
Stimulation Parameters for Sacral Neuromodulation on Lower Urinary Tract and Bowel Dysfunction-Related Clinical Outcome: A Systematic Review.
Neuromodulation : journal of the International Neuromodulation Society, 2020

Sacral neuromodulation (SNM) has been used to treat patients with lower urinary tract dysfunction and bowel dysfunction for many years. Success rates vary between 50% and 80%, indicating that there is much room for improvement. Altering stimulation parameters may result in improved outcome. This paper reports a systematic review of the clinical efficacy of nonconventional stimulation parameters on urinary tract and bowel dysfunction.
Extinction learning alters the neural representation of conditioned fear.
Cognitive, affective & behavioral neuroscience, 2020

Extinction learning is a primary means by which conditioned associations to threats are controlled and is a model system for emotion dysregulation in anxiety disorders. Recent work has called for new approaches to track extinction-related changes in conditioned stimulus (CS) representations. We applied a multivariate analysis to previously -collected functional magnetic resonance imaging data on extinction learning, in which healthy young adult participants (N = 43; 21 males, 22 females) encountered dynamic snake and spider CSs while passively navigating 3D virtual environments. We used representational similarity analysis to compare voxel-wise activation t-statistic maps for the shock-reinforced CS (CS+) from the late phase of fear acquisition to the early and late phases of extinction learning within subjects. These patterns became more dissimilar from early to late extinction in a priori regions of interest: subgenual and dorsal anterior cingulate gyrus, amygdala and hippocampus. A whole-brain searchlight analysis revealed similar findings in the insula, mid-cingulate cortex, ventrolateral prefrontal cortex, somatosensory cortex, cerebellum, and visual cortex. High state anxiety attenuated extinction-related changes to the CS+ patterning in the amygdala, which suggests an enduring threat representation. None of these effects generalized to an unreinforced control cue, nor were they evident in traditional univariate analyses. Our approach extends previous neuroimaging work by emphasizing how evoked neural patterns change from late acquisition through phases of extinction learning, including those in brain regions not traditionally implicated in animal models. Finally, the findings provide additional support for a role of the amygdala in anxiety-related persistence of conditioned fears.
Understanding Anatomy of the Petrous Pyramid-A New Compartmental Approach.
World neurosurgery, 2019

Learning surgical anatomy of the petrous pyramid can be a challenge, especially in the beginning of the training process. Providing an easier, holistic approach can be of help to everyone with interest in learning and teaching skull base anatomy. We present the complex organization of petrous pyramid anatomy using a new compartmental approach that is simple to understand and remember.
Systemic mazindol reduces food intake in rats via suppression of meal size and meal number.
Journal of psychopharmacology (Oxford, England), 2008

The aim of the present study was to determine the impact of the appetite suppressant mazindol on meal pattern in rats. Meal patterns were monitored in adult male rats after mazindol dosing during the first three hours of the dark cycle using automated feeding chambers (BioDAQ). Mazindol (0, 0.25, 1.25 and 2.5 mg/kg, IP) produced a dose-dependent hypophagia and hypodipsia. Meal size and meal number were significantly suppressed by mazindol. The meal pattern findings indicate that mazindol inhibits eating in the rat via a suppression of both meal size and meal number.
A simple and effective F0 knockout method for rapid screening of behaviour and other complex phenotypes.
eLife, 2021

Hundreds of human genes are associated with neurological diseases, but translation into tractable biological mechanisms is lagging. Larval zebrafish are an attractive model to investigate genetic contributions to neurological diseases. However, current CRISPR-Cas9 methods are difficult to apply to large genetic screens studying behavioural phenotypes. To facilitate rapid genetic screening, we developed a simple sequencing-free tool to validate gRNAs and a highly effective CRISPR-Cas9 method capable of converting >90% of injected embryos directly into F0 biallelic knockouts. We demonstrate that F0 knockouts reliably recapitulate complex mutant phenotypes, such as altered molecular rhythms of the circadian clock, escape responses to irritants, and multi-parameter day-night locomotor behaviours. The technique is sufficiently robust to knockout multiple genes in the same animal, for example to create the transparent triple knockout
Altered relationship between subjective perception and central representation of touch hedonics in adolescents with autism-spectrum disorder.
Translational psychiatry, 2021

An impairment of social communication is a core symptom of autism-spectrum disorder (ASD). Affective touch is an important means of social interaction, and C-Tactile (CT) afferents are thought to play a key role in the peripheral detection and encoding of these stimuli. Exploring the neural and behavioral mechanisms for processing CT-optimal touch (~3 cm/s) may therefore provide useful insights into the pathophysiology of ASD. We examined the relationship between touch hedonics (i.e. the subjective pleasantness with which affective touch stimuli are perceived) and neural processing in the posterior superior temporal sulcus (pSTS). This region is less activated to affective touch in individuals with ASD, and, in typically developing individuals (TD), is correlated positively with touch pleasantness. TD and ASD participants received brushing stimuli at CT-optimal, and CT-non-optimal speeds during fMRI. Touch pleasantness and intensity ratings were collected, and affective touch awareness, a measure of general touch hedonics was calculated. As expected, slow touch was perceived as more pleasant and less intense than fast touch in both groups, whereas affective touch awareness was moderately higher in TD compared to ASD. There was a strong, positive correlation between right pSTS activation and affective touch awareness in TD, but not in ASD. Our findings suggest that altered neural coupling between right pSTS and touch hedonics in ASD may be associated with social touch avoidance in ASD.
Microglial mTOR is Neuronal Protective and Antiepileptogenic in the Pilocarpine Model of Temporal Lobe Epilepsy.
The Journal of neuroscience : the official journal of the Society for Neuroscience, 2020

Excessive activation of mammalian target of rapamycin (mTOR) signaling is epileptogenic in genetic epilepsy. However, the exact role of microglial mTOR in acquired epilepsy remains to be clarified. In the present study, we found that mTOR is strongly activated in microglia following excitatory injury elicited by status epilepticus. To determine the role of microglial mTOR signaling in excitatory injury and epileptogenesis, we generated mice with restrictive deletion of mTOR in microglia. Both male and female mice were used in the present study. We found that mTOR-deficient microglia lost their typical proliferative and inflammatory responses to excitatory injury, whereas the proliferation of astrocytes was preserved. In addition, mTOR-deficient microglia did not effectively engulf injured/dying neurons. More importantly, microglial mTOR-deficient mice displayed increased neuronal loss and developed more severe spontaneous seizures. These findings suggest that microglial mTOR plays a protective role in mitigating neuronal loss and attenuating epileptogenesis in the excitatory injury model of epilepsy.
Resection of Right Frontal Arteriovenous Malformation: 3-Dimensional Operative Video.
Operative neurosurgery (Hagerstown, Md.), 2019

The video demonstrates resection of a Grade II Spetzler-Martin unruptured, medium-sized arteriovenous malformation (AVM). A young woman presented with headaches and seizures. The right frontal lesion measured 4.5 cm in largest dimension and had superficial venous drainage. Partial Onyx embolization, primarily of the anterior cerebral feeding arteries, was performed. Bone removal for exposure allowed identification of indentation from the large superficial draining vein. The video demonstrates careful microsurgical dissection on the AVM/brain interface, with selective interruption of feeding arteries circumferentially. The lesion was removed after ligation of the large superficial draining vein. Postoperative day 1 and 1-yr angiography demonstrated complete resection. The patient's symptoms abated after resection. This case is presented with a waiver of informed consent as per the Institutional Review Board.
Depth relationships and measures of tissue thickness in dorsal midbrain.
Human brain mapping, 2020

Dorsal human midbrain contains two nuclei with clear laminar organization, the superior and inferior colliculi. These nuclei extend in depth between the superficial dorsal surface of midbrain and a deep midbrain nucleus, the periaqueductal gray matter (PAG). The PAG, in turn, surrounds the cerebral aqueduct (CA). This study examined the use of two depth metrics to characterize depth and thickness relationships within dorsal midbrain using the superficial surface of midbrain and CA as references. The first utilized nearest-neighbor Euclidean distance from one reference surface, while the second used a level-set approach that combines signed distances from both reference surfaces. Both depth methods provided similar functional depth profiles generated by saccadic eye movements in a functional MRI task, confirming their efficacy for delineating depth for superficial functional activity. Next, the boundaries of the PAG were estimated using Euclidean distance together with elliptical fitting, indicating that the PAG can be readily characterized by a smooth surface surrounding PAG. Finally, we used the level-set approach to measure tissue depth between the superficial surface and the PAG, thus characterizing the variable thickness of the colliculi. Overall, this study demonstrates depth-mapping schemes for human midbrain that enables accurate segmentation of the PAG and consistent depth and thickness estimates of the superior and inferior colliculi.
Disclosure of study funding and author conflicts of interest in press releases and the news: a retrospective content analysis with two cohorts.
BMJ open, 2021

To examine how often study funding and author conflicts of interest are stated in science and health press releases and in corresponding news; and whether disclosure in press releases is associated with disclosure in news. Second, to specifically examine disclosure rates in industry-funded studies.
Individual optimization of risky decisions in duration and distance estimations.
Attention, perception & psychophysics, 2021

Many everyday decisions require an accurate perception of how much time has passed since a previous event. Although humans estimate time intervals with a high degree of mean accuracy, the precision of estimations varies greatly between individuals. In situations in which accurate timing is rewarded but responding too early is punished, the optimal amount of risk is directly dependent on the precision of the timer. Previously, it was found that humans and rodents displayed near-optimal adjustment of their mean response time based on their individual precision and the level of punishment. It is as of yet unknown whether these strategies of optimality in interval timing are specific to the timing domain, or instead reflect an ability that generalizes to other sensorimotor modalities of decision making. Here, we address this by combining a temporal reproduction experiment and a distance estimation experiment with an identical reward scheme. We found that participants approached optimality in both tasks, but generally underadjusted their responses in the face of high risk. As this individual adjustment was consistent over modalities, these results can best be explained by assuming that the adjustment of behavior towards optimal performance is driven by a modality independent mechanism.
Apolipoprotein E deficiency induces a progressive increase in tissue iron contents with age in mice.
Redox biology, 2021

Association of both iron/hepcidin and apolipoprotein E (ApoE) with development of Alzheimer disease (AD) and atherosclerosis led us to hypothesize that ApoE might be required for body iron homeostasis. Here, we demonstrated that ApoE knock-out (KO) induced a progressive accumulation of iron with age in the liver and spleen of mice. Subsequent investigations showed that the increased iron in the liver and spleen was due to phosphorylated extracellular regulated protein kinases (pERK) mediated up-regulation of transferrin receptor 1 (TfR1), and nuclear factor erythroid 2-related factor-2 (Nrf2)-dependent down-regulation of ferroportin 1. Furthermore, replenishment of ApoE could partially reverse the iron-related phenotype in ApoE KO mice. The findings imply that ApoE may be essential for body iron homeostasis and also suggest that clinical late-onset diseases with unexplained iron abnormality may partly be related to deficiency or reduced expression of ApoE.
Profiling brain function: spatiotemporal characterization of normal and abnormal visual activation.
Journal of neuroscience methods, 2010

In clinical neuroscience, the utility of evoked and event-related potentials (EPs and ERPs) resides in the temporal information they provide. However, it is largely unknown whether valuable diagnostic information resides within the corresponding spatial patterns. To determine this, the first step involves testing whether "normal" versus "abnormal" EPs/ERPs can be differentiated based on spatial patterns. In the current study, we present a method that characterizes similarities across individual source maps, called the profile algorithm. The profile algorithm was evaluated in terms of its ability to detect spatial activation differences in myopic individuals with corrected and uncorrected vision. This experiment represents a critical test of the method before applying it to the assessment of perceptual/cognitive functions.
Fear-induced increases in loss aversion are linked to increased neural negative-value coding.
Social cognitive and affective neuroscience, 2020

Human decisions are often influenced by emotions. An economically relevant example is the role of fear in generating loss aversion. Previous research implicates the amygdala as a key brain structure in the experience of fear and loss aversion. The neural mechanism behind emotional influences on loss aversion is, however, unclear. To address this, we measured brain activation with functional magnetic resonance imaging (fMRI) while participants made decisions about monetary gambles after viewing fearful or neutral faces. We observed that loss aversion following the presentation of neutral faces was mainly predicted by greater deactivations for prospective losses (relative to activations for prospective gains) in several brain regions, including the amygdala. By contrast, increases in loss aversion following the presentation of fearful faces were mainly predicted by greater activations for prospective losses. These findings suggest a fear-induced shift from positive to negative value coding that reflects a context-dependent involvement of distinct valuation processes.
Attenuated beta rebound to proprioceptive afferent feedback in Parkinson's disease.
Scientific reports, 2019

Motor symptoms are defining traits in the diagnosis of Parkinson's disease (PD). A crucial component in motor function is the integration of afferent proprioceptive sensory feedback. Previous studies have indicated abnormal movement-related cortical oscillatory activity in PD, but the role of the proprioceptive afference on abnormal oscillatory activity in PD has not been elucidated. We examine the cortical oscillations in the mu/beta-band (8-30 Hz) in the processing of proprioceptive stimulation in PD patients, ON/OFF levodopa medication, as compared to that of healthy controls (HC). We used a proprioceptive stimulator that generated precisely controlled passive movements of the index finger and measured the induced cortical oscillatory responses following the proprioceptive stimulation using magnetoencephalography. Both PD patients and HC showed a typical beta-band desynchronization during the passive movement. However, the subsequent beta rebound after the passive movement that was almost absent in PD patients compared to HC. Furthermore, we found no difference in the degree of beta rebound attenuation between patients ON and OFF levodopa medication. The results demonstrate a disease-related deterioration in cortical processing of proprioceptive afference in PD.
Schedule of factors influencing access to psychiatric treatment in persons with schizophrenia: validity and pilot testing.
Indian journal of psychological medicine, 2013

A substantial proportion of patients with severe mental disorders remain untreated in India. Qualitative research has highlighted the complex interplay of multiple factors that preclude schizophrenia patients in rural Indian settings from accessing treatment.
Coupled Control of Distal Axon Integrity and Somal Responses to Axonal Damage by the Palmitoyl Acyltransferase ZDHHC17.
Cell reports, 2020

After optic nerve crush (ONC), the cell bodies and distal axons of most retinal ganglion cells (RGCs) degenerate. RGC somal and distal axon degenerations were previously thought to be controlled by two parallel pathways, involving activation of the kinase dual leucine-zipper kinase (DLK) and loss of the axon survival factor nicotinamide mononucleotide adenylyltransferase-2 (NMNAT2), respectively. Here, we report that palmitoylation of both DLK and NMNAT2 by the palmitoyl acyltransferase ZDHHC17 couples these signals. ZDHHC17-dependent palmitoylation enables DLK-dependent somal degeneration after ONC and also ensures NMNAT-dependent distal axon integrity in healthy optic nerves. We provide evidence that ZDHHC17 also controls survival-versus-degeneration decisions in dorsal root ganglion (DRG) neurons, and we identify conserved motifs in NMNAT2 and DLK that govern their ZDHHC17-dependent regulation. These findings suggest that the control of somal and distal axon integrity should be considered as a single, holistic process, mediated by the concerted action of two palmitoylation-dependent pathways.
Author Correction: Progress in multiple sclerosis - from diagnosis to therapy.
Nature reviews. Neurology, 2019

In the originally published article, Maria Pia Amato's affiliation was incomplete - it should have included IRCCS Fondazione Don Carlo Gnocchi, Florence, Italy. This correction notice has been appended to the PDF version of the manuscript.
New perspectives in the endoscopic treatment of brain purulent collections: targets, techniques, results in a case series, and overview of the literature.
Acta neurochirurgica, 2020

Purulent intracranial infections are threatening conditions. Different surgical approaches have been described, respecting the rationale of evacuating the fluid component of the purulent collection. Emerging evidence supports the use of the endoscope for the treatment of cerebral abscesses and subdural empyemas; especially the peculiarities of flexible endoscopes could potentially offer a more effective and conclusive management as compared with the drainage through catheters. We describe our experience in the treatment of intracranial purulent collections with flexible endoscopy, comparing it with the most recent literature.