rudyvdbrink/CitationDatabase huggingface dataset:
Dataset of active avoidance in Wistar-Kyoto and Sprague Dawley rats: Experimental data and reinforcement learning model code and output.
Data in brief, 2020

Data were collected from 40 Wistar-Kyoto (WKY) and 40 Sprague Dawley (SD) rats during an active escape-avoidance experiment. Footshock could be avoided by pressing a lever during a danger period prior to onset of shock. If avoidance did not occur, a series of footshocks was administered, and the rat could press a lever to escape (terminate shocks). For each animal, data were simplified to the presence or absence of lever press and stimuli in each 12-second time frame. Using the pre-processed dataset, a reinforcement learning (RL) model, based on an actor-critic architecture, was utilized to estimate several different model parameters that best characterized each rat's behaviour during the experiment. Once individual model parameters were determined for all 80 rats, behavioural recovery simulations were run using the RL model with each animal's "best-fit" parameters; the simulated behaviour generated avoidance data (percent of trials avoided during a given experimental session) that could be compared across simulated rats, as is customarily done with empirical data. The datasets representing both the experimental data and the model-generated data can be interpreted in various ways to gain further insight into rat behaviour during avoidance and escape learning. Furthermore, the estimated parameters for each individual rat can be compared across groups. Thus, possible between-strain differences in model parameters can be detected, which might provide insights into strain differences in learning. The software implementing the RL model can also be applied to or serve as a template for other experiments involving acquisition learning.
Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis.
Scientific reports, 2020

Facioscapulohumeral muscular dystrophy (FSHD) is a myopathy with prevalence of 1 in 20,000. Almost all patients affected by FSHD carry deletions of an integral number of tandem 3.3 kilobase repeats, termed D4Z4, located on chromosome 4q35. Assessment of size of D4Z4 alleles is commonly used for FSHD diagnosis. However, the extended molecular testing has expanded the spectrum of clinical phenotypes. In particular, D4Z4 alleles with 9-10 repeat have been found in healthy individuals, in subjects with FSHD or affected by other myopathies. These findings weakened the strict relationship between observed phenotypes and their underlying genotypes, complicating the interpretation of molecular findings for diagnosis and genetic counseling. In light of the wide clinical variability detected in carriers of D4Z4 alleles with 9-10 repeats, we applied a standardized methodology, the Comprehensive Clinical Evaluation Form (CCEF), to describe and characterize the phenotype of 244 individuals carrying D4Z4 alleles with 9-10 repeats (134 index cases and 110 relatives). The study shows that 54.5% of index cases display a classical FSHD phenotype with typical facial and scapular muscle weakness, whereas 20.1% present incomplete phenotype with facial weakness or scapular girdle weakness, 6.7% display minor signs such as winged scapula or hyperCKemia, without functional motor impairment, and 18.7% of index cases show more complex phenotypes with atypical clinical features. Family studies revealed that 70.9% of relatives carrying 9-10 D4Z4 reduced alleles has no motor impairment, whereas a few relatives (10.0%) display a classical FSHD phenotype. Importantly all relatives of index cases with no FSHD phenotype were healthy carriers. These data establish the low penetrance of D4Z4 alleles with 9-10 repeats. We recommend the use of CCEF for the standardized clinical assessment integrated by family studies and further molecular investigation for appropriate diagnosis and genetic counseling. Especially in presence of atypical phenotypes and/or sporadic cases with all healthy relatives is not possible to perform conclusive diagnosis of FSHD, but all these cases need further studies for a proper diagnosis, to search novel causative genetic defects or investigate environmental factors or co-morbidities that may trigger the pathogenic process. These evidences are also fundamental for the stratification of patients eligible for clinical trials. Our work reinforces the value of large genotype-phenotype studies to define criteria for clinical practice and genetic counseling in rare diseases.
Time course of changes in the long-latency feedback response parallels the fast process of short-term motor adaptation.
Journal of neurophysiology, 2020

Adapting to novel dynamics involves modifying both feedforward and feedback control. We investigated whether the motor system alters feedback responses during adaptation to a novel force field in a manner similar to adjustments in feedforward control. We simultaneously tracked the time course of both feedforward and feedback systems via independent probes during a force field adaptation task. Participants (
Perspectives on Human Hearing Loss, Cochlear Regeneration, and the Potential for Hearing Restoration Therapies.
Brain sciences, 2020

Most adults who acquire hearing loss find it to be a disability that is poorly corrected by current prosthetics. This gap drives current research in cochlear mechanosensory hair cell regeneration and in hearing restoration. Birds and fish can spontaneously regenerate lost hair cells through a process that has become better defined in the last few years. Findings from these studies have informed new research on hair cell regeneration in the mammalian cochlea. Hair cell regeneration is one part of the greater problem of hearing restoration, as hearing loss can stem from a myriad of causes. This review discusses these issues and recent findings, and places them in the greater social context of need and community.
Resting-state posterior alpha power changes with prolonged exposure in a natural environment.
Cognitive research: principles and implications, 2020

Exposure to environments that contain natural features can benefit mood, cognition, and physiological responses. Previous research proposed exposure to nature restores voluntary attention - attention that is directed towards a task through top down control. Voluntary attention is limited in capacity and depletes with use. Nature provides unique stimuli that do not require voluntary attention; therefore, the neural resources needed for attention to operate efficiently are theorized to restore when spending time in nature. Electroencephalography reflects changes in attention through fluctuations in power within specific frequencies. The current study (N = 29) measured changes in averaged resting state posterior alpha power before, during, and after a multiday nature exposure. Linear mixed-effects models revealed posterior alpha power was significantly lower during the nature exposure compared to pre-trip and post-trip testing, suggesting posterior alpha power may be a potential biomarker for differences related to exposure to natural and urban environments.
Sentence composition ability in two patients with non-fluent/agrammatic variant primary progressive aphasia.
Psychogeriatrics : the official journal of the Japanese Psychogeriatric Society, 2018

Agrammatism is one of the core clinical features of non-fluent/agrammatic variant primary progressive aphasia, and it has traditionally been considered the hallmark of non-fluent aphasia in Western countries. However, agrammatic speech may remain undetected in Japanese patients because of the agglutinative structure of the language and high flexibility in word order. In the present study, we aimed to analyze agrammatism in the speech production of Japanese patients with aphasia due to neurodegenerative disease using an anagram test generated by our laboratory. Four patients were recruited from the dementia clinic at Tohoku University Hospital between December 2014 and August 2015: two patients with non-fluent/agrammatic variant primary progressive aphasia, one with semantic variant primary progressive aphasia, and one with probable Alzheimer's disease experiencing episodic memory impairment accompanied by transcortical sensory aphasia. All patients underwent thorough neurological and neuropsychological testing before performing a Japanese anagram task based on the Northwestern Anagram Test. Our findings indicated that the two patients with non-fluent/agrammatic variant primary progressive aphasia exhibited poorer performance on the anagram task than the remaining two patients. Therefore, the anagram test used in the present study may aid in detecting output aspects of agrammatism in Japanese patients with aphasia, although future studies are required to develop a standardized version of test.
Deficit of human ornithine aminotransferase in gyrate atrophy: Molecular, cellular, and clinical aspects.
Biochimica et biophysica acta. Proteins and proteomics, 2021

Gyrate Atrophy (GA) of the choroid and retina (MIM# 258870) is an autosomal recessive disorder due to mutations of the OAT gene encoding ornithine-delta-aminotransferase (OAT), associated with progressive retinal deterioration and blindness. The disease has a theoretical global incidence of approximately 1:1,500,000. OAT is mainly involved in ornithine catabolism in adults, thus explaining the hyperornithinemia as hallmark of the disease. Patients are treated with an arginine-restricted diet, to limit ornithine load, or the administration of Vitamin B6, a precursor of the OAT coenzyme pyridoxal phosphate. Although the clinical and genetic aspects of GA are known for many years, the enzymatic phenotype of pathogenic variants and their response to Vitamin B6, as well as the molecular mechanisms explaining retinal damage, are poorly clarified. Herein, we provide an overview of the current knowledge on the biochemical properties of human OAT and on the molecular, cellular, and clinical aspects of GA.
S100B and NSE in Cluster Headache - Evidence for Glial Cell Activation?
Headache, 2020

Neuronal-specific enolase (NSE) and protein S100B have gained considerable interest as the markers of CNS injury, glial cell activation, and/or blood-brain barrier (BBB) disruption. No studies have investigated NSE and S100B in cluster headache (CH), but these biomarkers could contribute to the understanding of CH.
Susceptibility test of two Ca(2+)-ATPase conformers to denaturants and polyols to outline their structural difference.
The Journal of membrane biology, 2013

To determine the effect of denaturants [guanidine hydrochloride (GdnHCl) and urea] and polyols [with various molecular masses (62.1-600)] on calcium binding at the two hypothesized conformers (A and B forms) of the chemically equivalent sarcoplasmic reticulum Ca(2+)-ATPase, which bind two calcium ions in different manners, we examined the effect of these reagents on the calcium dependence of ATP-supported phosphorylation of the ATPase molecules and of their calcium-activated, acetyl phosphatate hydrolytic activity. (1) GdnHCl (~0.05 M) and urea (~0.5 M) increased the apparent calcium affinity (K (0.5)) of 2-6 μM of noncooperative binding [Hill coefficient (n (H)) ~ 1] of the A form to 10-40 μM. (2) The employed polyols transformed the binding of the A form into cooperative binding (n (H) ~ 2), accompanying the approach of its K (0.5) value to that (K (0.5) = 0.04-0.2 μM) of the cooperative binding (n (H) ~ 2) of the B form; the transition concentration (0.025-2 M) of the polyols, above which such transformation occurs, was in inverse relation to their molecular mass. (3) The binding of the B form was resistant to these denaturants and polyols. Based on these data, a structural model of the two forms, calcium-binding domains of which are loosely and compactly folded, is presented.
Preclinical investigations into the relationship between adolescent SSRI exposure and aggressive behavior: response to commentary by Rubin and Walkup (2012).
Behavioral neuroscience, 2013

A Commentary published in the October 2012 issue of Behavioral Neuroscience entitled "SSRIs, Adolescents, and Aggression: Tempering Human Implications Regarding SSRI-Induced Aggression in Hamsters: Comment on Ricci and Melloni (2012)", presents an interpretation of findings from our report published in the same issue of Behavioral Neuroscience entitled "Repeated Fluoxetine Administration During Adolescence Stimulates Aggressive Behavior and Alters Serotonin and Vasopressin Neural Development in Hamsters". The commentary was informative, especially in its review of the prescribing demographics for SSRIs in youth and its review of human and animal aggression subtypes, and in several instances offered alternative explanations and interpretations of evidence cited in our report, particularly regarding putative relationships between human and animal models of aggression. In our response, we reply to comments made by the authors regarding the animal model of choice for our studies, the methodologies employed and the greater implication(s) of our published study as well as offer a disparate view of the evidence cited by the authors in their commentary as they pertain to the relevance of the models of aggression used in our study.
Identifying Reliable and Relatable Force-Time Metrics in Athletes-Considerations for the Isometric Mid-Thigh Pull and Countermovement Jump.
Sports (Basel, Switzerland), 2020

The purpose of this study was to evaluate intrasession reliability of countermovement jump (CMJ) and isometric mid-thigh pull (IMTP) force-time characteristics, as well as relationships between CMJ and IMTP metrics. Division I sport and club athletes (
The inhibition of Kir2.1 potassium channels depolarizes spinal microglial cells, reduces their proliferation, and attenuates neuropathic pain.
Glia, 2020

Spinal microglia change their phenotype and proliferate after nerve injury, contributing to neuropathic pain. For the first time, we have characterized the electrophysiological properties of microglia and the potential role of microglial potassium channels in the spared nerve injury (SNI) model of neuropathic pain. We observed a strong increase of inward currents restricted at 2 days after injury associated with hyperpolarization of the resting membrane potential (RMP) in microglial cells compared to later time-points and naive animals. We identified pharmacologically and genetically the current as being mediated by Kir2.1 ion channels whose expression at the cell membrane is increased 2 days after SNI. The inhibition of Kir2.1 with ML133 and siRNA reversed the RMP hyperpolarization and strongly reduced the currents of microglial cells 2 days after SNI. These electrophysiological changes occurred coincidentally to the peak of microglial proliferation following nerve injury. In vitro, ML133 drastically reduced the proliferation of BV2 microglial cell line after both 2 and 4 days in culture. In vivo, the intrathecal injection of ML133 significantly attenuated the proliferation of microglia and neuropathic pain behaviors after nerve injury. In summary, our data implicate Kir2.1-mediated microglial proliferation as an important therapeutic target in neuropathic pain.
Temperamental Characteristics and Problem-Solving Skills among Patients on Opioid Agonists.
Addiction & health, 2018

The study of temperament and problem-solving styles in people with substance abuse is important in promoting the functions of prevention and treatment of this social problem. Therefore, the aim of this study was to compare the nature and problem-solving skills of methadone treated patients with buprenorphine treated patients.
Brain TSPO-PET predicts later disease progression independent of relapses in multiple sclerosis.
Brain : a journal of neurology, 2020

Overactivation of microglia is associated with most neurodegenerative diseases. In this study we examined whether PET-measurable innate immune cell activation predicts multiple sclerosis disease progression. Activation of microglia/macrophages was measured using the 18-kDa translocator protein (TSPO)-binding radioligand 11C-PK11195 and PET imaging in 69 patients with multiple sclerosis and 18 age- and sex-matched healthy controls. Radioligand binding was evaluated as the distribution volume ratio from dynamic PET images. Conventional MRI and disability measurements using the Expanded Disability Status Scale were performed for patients at baseline and 4.1 ± 1.9 (mean ± standard deviation) years later. Fifty-one (74%) of the patients were free of relapses during the follow-up period. Patients had increased activation of innate immune cells in the normal-appearing white matter and in the thalamus compared to the healthy control group (P = 0.033 and P = 0.003, respectively, Wilcoxon). Forward-type stepwise logistic regression was used to assess the best variables predicting disease progression. Baseline innate immune cell activation in the normal-appearing white matter was a significant predictor of later progression when the entire multiple sclerosis cohort was assessed [odds ratio (OR) = 4.26; P = 0.048]. In the patient subgroup free of relapses there was an association between macrophage/microglia activation in the perilesional normal-appearing white matter and disease progression (OR = 4.57; P = 0.013). None of the conventional MRI parameters measured at baseline associated with later progression. Our results strongly suggest that innate immune cell activation contributes to the diffuse neural damage leading to multiple sclerosis disease progression independent of relapses.
Response to the Letter to the Editor From Marcotte (2019) Regarding "The History of Stuttering by 7 Years: Follow-Up of a Prospective Community Cohort" by Kefalianos et al. (2017).
Journal of speech, language, and hearing research : JSLHR, 2019

Purpose The purpose of this letter is to respond to Marcotte's (2019) letter to the editor, "The Influence of Treatment on Children's Recovery from Stuttering: Comments on Kefalianos et al. (2017) and Leech et al. (2017)," published by the Journal of Speech, Language, and Hearing Research.
Incidental spontaneous CSF fistula with pterygoid process meningoencephalocele.
Neurosciences (Riyadh, Saudi Arabia), 2019

Spontaneous cerebrospinal fluid (CSF) fistula is a rare entity, most commonly occurs at the ethmoid roof, cribriform plate, or the sphenoid sinus; at the perisella, inferolateral or pterygoid recesses. Imaging plays a major role in diagnosis, thereby guiding the treatment of a spontaneous CSF fistula, evolving multiple modalities. We report a case of a patient with spontaneous Meningio-encephalocele presented as an expansile lytic lesion in the left pterygoid body, this patient was successfully treated surgically.
The mammalian target of rapamycin (mTOR) kinase mediates haloperidol-induced cataleptic behavior.
Translational psychiatry, 2020

The mammalian target of rapamycin (mTOR) is a ubiquitously expressed serine/threonine kinase protein complex (mTORC1 or mTORC2) that orchestrates diverse functions ranging from embryonic development to aging. However, its brain tissue-specific roles remain less explored. Here, we have identified that the depletion of the mTOR gene in the mice striatum completely prevented the extrapyramidal motor side effects (catalepsy) induced by the dopamine 2 receptor (D2R) antagonist haloperidol, which is the most widely used typical antipsychotic drug. Conversely, a lack of striatal mTOR in mice did not affect catalepsy triggered by the dopamine 1 receptor (D1R) antagonist SCH23390. Along with the lack of cataleptic effects, the administration of haloperidol in mTOR mutants failed to increase striatal phosphorylation levels of ribosomal protein pS6 (S235/236) as seen in control animals. To confirm the observations of the genetic approach, we used a pharmacological method and determined that the mTORC1 inhibitor rapamycin has a profound influence upon post-synaptic D2R-dependent functions. We consistently found that pretreatment with rapamycin entirely prevented (in a time-dependent manner) the haloperidol-induced catalepsy, and pS6K (T389) and pS6 (S235/236) signaling upregulation, in wild-type mice. Collectively, our data indicate that striatal mTORC1 blockade may offer therapeutic benefits with regard to the prevention of D2R-dependent extrapyramidal motor side effects of haloperidol in psychiatric illness.
Duchenne muscular dystrophy (DMD) cardiomyocyte-secreted exosomes promote the pathogenesis of DMD-associated cardiomyopathy.
Disease models & mechanisms, 2020

Cardiomyopathy is a leading cause of early mortality in Duchenne muscular dystrophy (DMD). There is a need to gain a better understanding of the molecular pathogenesis for the development effective therapies. Exosomes (exo) are secreted vesicles and exert effects via their RNA, lipid and protein cargo. The role of exosomes in disease pathology is unknown. Exosomes derived from stem cells have demonstrated cardioprotection in the murine DMD heart. However, it is unknown how the disease status of the donor cell type influences exosome function. Here, we sought to determine the phenotypic responses of DMD cardiomyocytes (DMD-iCMs) after long-term exposure to DMD cardiac exosomes (DMD-exo). DMD-iCMs were vulnerable to stress, evidenced by production of reactive oxygen species, the mitochondrial membrane potential and cell death levels. Long-term exposure to non-affected exosomes (N-exo) was protective. By contrast, long-term exposure to DMD-exo was not protective, and the response to stress improved with inhibition of DMD-exo secretion
Modulation of Small RNA Signatures in Schwann-Cell-Derived Extracellular Vesicles by the p75 Neurotrophin Receptor and Sortilin.
Biomedicines, 2020

Schwann cells (SCs) are the main glial cells of the peripheral nervous system (PNS) and are known to be involved in various pathophysiological processes, such as diabetic neuropathy and nerve regeneration, through neurotrophin signaling. Such glial trophic support to axons, as well as neuronal survival/death signaling, has previously been linked to the p75 neurotrophin receptor (p75
Impact of COVID-19 pandemic in the activity of a Therapeutic Apheresis unit in Italy.
Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis, 2020

The recent Coronavirus Disease 2019 (COVID-19) outbreak has led to profound and rapid changes in the Italian and Veneto Region Healthcare System. This context also includes the quick reorganization which the Apheresis Unit (AU) of the Padova University Hospital, i.e. the Regional Reference Center for Therapeutic Apheresis (TA), had to face.
Two Case Reports of Neuropsychological Functioning in Congenital Insensitivity to Pain with Anhidrosis (CIPA).
Developmental neuropsychology, 2020

Individuals with congenital insensitivity to pain with anhidrosis (CIPA) are reported to have intellectual disability but to our knowledge, no detailed study about neuropsychological functioning of this condition has ever been published. The present study assessed neuropsychological outcomes of two children with CIPA using standardized neuropsychological tests. The neuropsychological assessment revealed difficulties in a wide range of cognitive, executive, and integrative functions, such as a behavioral and adaptive level. Both children with CIPA functioned in the intellectual disability range with symptoms related to an executive dysfunction and negative-oriented personal emotional processing, and limitations in academic and self-care skills.