rudyvdbrink/CitationDatabase huggingface dataset:
A screening questionnaire for generalized tonic-clonic seizures: Hospital-based validation vs field-validation method.
Epilepsia open, 2019

The majority of the screening questionnaires for epilepsy have been validated in hospital settings. We previously developed and used for field validation a screening tool to detect generalized tonic-clonic seizures (GTCS) in the rural communities of the Chaco region of Bolivia. The objective of the present study was to perform a hospital-based validation of the same questionnaire and to compare the levels of accuracy obtained when validated in the field or in a hospital-based context. We carried out a hospital-based validation in the Hospital Hernandez Vera of Santa Cruz, Bolivia, where we enrolled patients affected by epilepsy with GTCS and controls. Sensitivity, specificity, and positive and negative predictive values (PPV and NPV) were calculated. One hundred twenty questionnaires were administered to 59 patients (27 men [45.8%]; mean age ± SD = 32.4 ± 14.2 years) and 61 controls (27 men [44.3%]; mean age ± SD = 32.6 ± 14.3 years). We obtained levels of accuracy of 100%. Sensitivity and PPV were significantly higher than the estimates obtained in the field-validation study (sensitivity 100% vs 76.3%; PPV 100% vs 69.0%). Our screening questionnaire showed a significantly lower level of sensitivity when validated in the field, confirming that hospital-based validation can lead to an overestimation of sensitivity.
GPR55 regulates the responsiveness to, but does not dimerise with, α
Biochemical pharmacology, 2021

Emerging evidence suggests that G protein coupled receptor 55 (GPR55) may influence adrenoceptor function/activity in the cardiovascular system. Whether this reflects direct interaction (dimerization) between receptors or signalling crosstalk has not been investigated. This study explored the interaction between GPR55 and the alpha 1A-adrenoceptor (α
Pediatric neurosurgery in Asia and Australasia: training and clinical practice.
Journal of neurosurgery. Pediatrics, 2021

There are limited data on the pediatric neurosurgical workforce in Asia and Australasia. The training and clinical practice of pediatric neurosurgeons need to be characterized in order to identify gaps in knowledge and skills, thereby establishing a framework from which to elevate pediatric neurosurgical care in the region.
Annual variation in attentional response after methylphenidate treatment.
European child & adolescent psychiatry, 2020

Prevalence rates of attention-deficit/hyperactivity disorder (ADHD) differ with geographical areas varying in sunlight intensity. Sun- or daylight reaching the retina establishes entrainment of the circadian clock to daylight. Changes herein, hence, alterations in clock alignment, could be reflected indirectly in inattention via sleep duration. We here studied (1) annual variation in inattention at treatment initiation; (2) annual variation in response to ADHD treatment [methylphenidate (MPH)] by day of treatment initiation; and (3) dose dependence. We predicted least baseline inattention during a period of high sunlight intensity implying more room for improvement (i.e., a better treatment response) when sunlight intensity is low. These hypotheses were not confirmed. High-dose treated patients, however, had significantly better attention after treatment than low-dosed treated patients, only when treated in the period from winter to summer solstice. Change in solar irradiance (SI) during low-dosed treatment period was negatively related to attentional improvement. The above described findings were primarily found in inattention ratings and replicated in omission errors on a continuous performance task. Daylight and inattention have been proposed to be related via mediation of the circadian system. One mechanism of MPH may be to enhance sensitivity to the diurnal entrainment to sunlight and the question can be raised whether appropriate lighting could potentiate the effects of stimulants.
A pilot study on non-invasive treatment of migraine: The self-myofascial release.
European journal of translational myology, 2021

The aims of this paper was to determine the effect of self-myofascial release (SMFR) on postural stability and to analyze if it can influence migraine condition. Twenty-five subjects (age 49.7± 12.5) affected by migraine were enrolled. Assessments included a stabilometric analysis in order to evaluate balance and plantar support, with eyes open (OE) and closed (CE); cervical ROM measurement; evaluation of upper limb strength through handgrip. All the analysis were carried out before and after the administration of a single SMFR protocol, using medium density small balls laid in the three most painful trigger points in migraine patients: trapezius, sternocleidomastoids and suboccipital muscles. Performing a T test for paired samples, there was a significant increase in two ranges of the stabilometric analysis: ellipse surface, both with open and closed eyes (p value EO = 0.05; p value EC = 0.04) and length of the sway path, but just with closed eyes (p value = 0.05). SMFR might have a positive impact on postural stability in subjects with migraine. Further investigation should be conducted to confirm the hypothesis.
Efficacy and safety of Hominis placenta pharmacopuncture on mild cognitive impairment: Randomized, double blind, placebo-controlled, multi-center trial.
Medicine, 2020

Mild cognitive impairment (MCI) is cognitive decline which can be observed in a wide range of cognitive domains. It is considered as a prodromal stage of dementia; therefore, strategies for treatment are necessary, but current evidence is limited. Combining the memory enhancing effect of Hominis placenta (H placenta) and acupuncture elucidated separately in previous studies, efficacy of H placenta pharmacopuncture for treating MCI is anticipated.
Comparing the Clinical and Cost-Effectiveness of Abdominal-based Autogenous Tissue and Tissue-Expander Implant: A Feasibility Study.
Plastic and reconstructive surgery. Global open, 2020

To determine the superiority of autologous abdominal tissue (AAT) or tissue-expander implant (TE/I) reconstruction, a robust comparative cohort study is required. This study sought to determine the feasibility of a future large pragmatic cohort study comparing clinical and cost-effectiveness of AAT and TE/I at 12 months postoperative.
Two Hundred Twenty-Six Consecutive Deep Brain Stimulation Electrodes Placed Using an "Asleep" Technique and the Neuro|MateTM Robot for the Treatment of Movement Disorders.
Operative neurosurgery (Hagerstown, Md.), 2020

Robotics in neurosurgery has demonstrated widening indications and rapid growth in recent years. Robotic precision and reproducibility are especially pertinent to the field of functional neurosurgery. Deep brain stimulation (DBS) requires accurate placement of electrodes in order to maximize efficacy and minimize side effects. In addition, asleep techniques demand clear target visualization and immediate on-table verification of accuracy.
Adult-onset Still's Disease in a Female Patient with Schizophrenia: A Case Report and Literature Review.
Cureus, 2018

Adult-onset Still's disease (AOSD) is a rare diagnosis. In small percentage of cases, AOSD is associated with other autoimmune diseases including schizophrenia. Despite the lack of sufficient studies, both conditions may share similar autoimmune pathogenic pathways. Herein we describe a 36-year-old woman with the past medical history of schizophrenia who presented with spiking fevers, arthralgia, evanescent rash and pleural chest pain. She reported developing these symptoms a while after poor compliance with her antipsychotic medication. On admission, physical examination was remarkable for high-grade fever, maculopapular rash, oligo arthralgia, hepatomegaly and lymphadenopathy. Laboratory investigation revealed leukocytosis with neutrophilia and markedly elevated ferritin. The patient met four out of four major, and three out of five minor Yamaguchi criteria for AOSD. The patient started on therapy with corticosteroid. Soon after, her symptoms resolved and most of her biochemical markers went back to normal. We review the literature on co-existence of AOSD with other autoimmune diseases, we also discuss that there may be a correlation between ceasing antipsychotic medication (with known immunomodulatory effect) in a schizophrenic patient and triggering an auto-inflammatory process such as AOSD in a susceptible host. In addition, we discussed the possible similar autoimmune pathway of schizophrenia to pathogenesis of AOSD.
The role of mitochondrial ATP synthase in cancer.
Biological chemistry, 2020

The mitochondrial ATP synthase is a multi-subunit enzyme complex located in the inner mitochondrial membrane which is essential for oxidative phosphorylation under physiological conditions. In this review, we analyse the enzyme functions involved in cancer progression by dissecting specific conditions in which ATP synthase contributes to cancer development or metastasis. Moreover, we propose the role of ATP synthase in the formation of the permeability transition pore (PTP) as an additional mechanism which controls tumour cell death. We further describe transcriptional and translational modifications of the enzyme subunits and of the inhibitor protein IF1 that may promote adaptations leading to cancer metabolism. Finally, we outline ATP synthase gene mutations and epigenetic modifications associated with cancer development or drug resistance, with the aim of highlighting this enzyme complex as a potential novel target for future anti-cancer therapy.
Correction to: The Italian Dystonia Registry: rationale, design and preliminary findings.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2018

In the original article, Gina Ferrazzano was affiliated to Department of Neurology and Psychiatry, Neuromed Institute IRCCS, Sapienza University of Rome, Pozzilli, Italy.The corrected affiliation should be: Neuromed Institute IRCCS, Pozzilli, IS, Italy.
Cranial nerve involvement in patients with MOG antibody-associated disease.
Neurology(R) neuroimmunology & neuroinflammation, 2019

To describe clinical and radiologic features of cranial nerve (CN) involvement in patients with myelin oligodendrocyte glycoprotein antibodies (MOG-IgG) and to assess the potential underlying mechanism of CN involvement using a nonhuman primate (NHP) model.
Hematological adaptations and detection of recombinant human erythropoietin combined with chronic hypoxia.
Drug testing and analysis, 2021

This study evaluated whether recombinant human erythropoietin (rhEpo) treatment combined with chronic hypoxia provided an additive erythropoietic response and whether the athlete biological passport (ABP) sensitivity improved with hypoxia. Two interventions were completed, each containing 4 weeks baseline, 4 weeks exposure at sea level or 2,320 m of altitude, and 4 weeks follow-up. Participants were randomly assigned to 20 IU·kg bw
Correction: Whole-blood expression of inflammasome- and glucocorticoid-related mRNAs correctly separates treatment-resistant depressed patients from drug-free and responsive patients in the BIODEP study.
Translational psychiatry, 2020

We have corrected this Article post-publication, because Dr. Cattaneo's affiliation details were originally incorrect (she was affiliated with three institutions but is in fact only linked to one: Biological Psychiatry Unit, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia). These changes reflect in both the PDF and HTML versions of this Article.
Genotype phenotype analysis in a family carrying truncating mutations in the titin gene.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2021

We report a family carrying a previously described truncating mutation, NM_001267550.2(TTN):c.107889del p.(Lys35963Asnfs*9) in exon 364, and a novel truncating mutation, NM_001267550.1:c.100704C > A p.(Tyr33568*) in exon 358 in the
Nintedanib targets KIT D816V neoplastic cells derived from induced pluripotent stem cells of systemic mastocytosis.
Blood, 2021

The KIT D816V mutation is found in >80% of patients with systemic mastocytosis (SM) and is key to neoplastic mast cell (MC) expansion and accumulation in affected organs. Therefore, KIT D816V represents a prime therapeutic target for SM. Here, we generated a panel of patient-specific KIT D816V induced pluripotent stem cells (iPSCs) from patients with aggressive SM and mast cell leukemia to develop a patient-specific SM disease model for mechanistic and drug-discovery studies. KIT D816V iPSCs differentiated into neoplastic hematopoietic progenitor cells and MCs with patient-specific phenotypic features, thereby reflecting the heterogeneity of the disease. CRISPR/Cas9n-engineered KIT D816V human embryonic stem cells (ESCs), when differentiated into hematopoietic cells, recapitulated the phenotype observed for KIT D816V iPSC hematopoiesis. KIT D816V causes constitutive activation of the KIT tyrosine kinase receptor, and we exploited our iPSCs and ESCs to investigate new tyrosine kinase inhibitors targeting KIT D816V. Our study identified nintedanib, a US Food and Drug Administration-approved angiokinase inhibitor that targets vascular endothelial growth factor receptor, platelet-derived growth factor receptor, and fibroblast growth factor receptor, as a novel KIT D816V inhibitor. Nintedanib selectively reduced the viability of iPSC-derived KIT D816V hematopoietic progenitor cells and MCs in the nanomolar range. Nintedanib was also active on primary samples of KIT D816V SM patients. Molecular docking studies show that nintedanib binds to the adenosine triphosphate binding pocket of inactive KIT D816V. Our results suggest nintedanib as a new drug candidate for KIT D816V-targeted therapy of advanced SM.
Data on the specificity of an antibody to 
Data in brief, 2017

The role of the vesicular acetylcholine transporter (VAChT) in the regulation of cholinergic neurotransmission has not been fully elucidated. Here we sought to develop a tool for studying vesicular acetylcholine transporter function, and we present data on the validation of our new anti-VAChT antibody. We show that the immunoreactivity of the antibody is not due to an artifact of secondary antibody staining, and we present two additional validation data. First, the peptide epitope used to generate the antibody is able to block the binding of the anti-VAChT antibody
General health and mortality in Tourette syndrome and chronic tic disorder: A mini-review.
Neuroscience and biobehavioral reviews, 2020

Current knowledge on the general somatic health and causes of death in Tourette syndrome and chronic tic disorder is very limited. Here, we review the available literature on the topic, while highlighting strengths and weaknesses of the studies conducted to date. These previous works have suggested associations between Tourette syndrome and chronic tic disorder and a range of health conditions, including autoimmune disorders, common allergies and respiratory diseases, sleep difficulties, and metabolic and cardiovascular outcomes. Additionally, the risk of mortality in tic disorders might be higher than that of the general population, but specific causes of death have rarely been studied, except for substance use-related deaths and suicide, which are significantly higher in individuals with Tourette syndrome and chronic tic disorder. Many of these emerging findings require replication and extension but, taken together, they suggest that that it might be sensible to monitor the general health and suicide risk of individuals with Tourette syndrome or chronic tic disorder across the lifespan. We suggest further avenues for research on this topic.
Influences of pCO2 and bicarbonate concentration on bioelectric phenomena in ischemic hippocampal ex vivo tissue.
Neuroscience, 2009

While the vasomotor effects of pCO(2) modulation are well documented, the influence of the carbon dioxide-bicarbonate system on the ischemia tolerance of brain tissue itself is controversial. Guinea-pig hippocampal tissue was subjected to ischemia simulation in an interface environment and examined electrophysiologically. Characteristics of anoxic depolarization as well as the postischemic recovery of evoked potentials were registered. During ischemia simulation, pH was changed and afterwards restored to 7.4. pH of 7.6 (n=6), and 7.8 (n=6) were adjusted by increasing bicarbonate concentration without changing pCO(2), while pH 8.2 was reached either with normal pCO(2) (n=8) or with zero CO(2) (n=9). pH 7.1 was created by doubling pCO(2) (n=22) or reducing bicarbonate (n=21), while acid pH of 6.9 (high pCO(2) and low bicarbonate) led to erratic measurements in the interface setup. Alkalotic conditions did not improve electrophysiological stability of the tissue, and pH 8.2 impeded the recovery of evoked potentials. Hypercarbic pH 7.1 led to significantly longer latency of depolarization while the same pH with lowered bicarbonate did not. Evoked potentials, however, recovered only partially after ischemia at hypercarbic pH 7.1. Once the tissue had recovered from anoxic depolarization at control pH, hypercarbic acidosis did not have any further protective effect when ischemia simulation was repeated (n=12). These results do not strengthen the concept of hyperventilation in intensive care, while they suggest a potential of hypercarbia within broader strategies delaying the onset of secondary brain damage.
Prognostic significance of atypical mitotic figures in smooth muscle tumors of uncertain malignant potential (STUMP) of the uterus and uterine adnexa.
APMIS : acta pathologica, microbiologica, et immunologica Scandinavica, 2021

We aimed to assess whether the presence of atypical mitotic figures (AMF) in smooth muscle tumors of uncertain malignant potential (STUMP) of the uterus and uterine adnexa is associated with increased risk of recurrence, and the association of AMF with the Stanford criteria, that is, significant cytologic atypia, mitotic index ≥ 10/10HPF, and coagulative tumor cell necrosis (CTCN). A systematic review was performed to identify all studies reporting the presence of AMF and oncologic outcomes in STUMP series. Fisher's exact test was used to assess the association of AMF with the three Stanford parameters. Kaplan-Meier and Cox regression survival analyses with hazard ratio (HR) calculation were performed to assess the association between AMF and STUMP recurrence. A p-value < 0.05 was considered significant. Five studies with 80 STUMPs were included, out of which 23.8% had AMF. AMF were significantly associated with the presence of significant atypia (p = 0.023), but not with the presence of a mitotic index ≥ 10/10HPF (p = 0.769), CTCN (p = 1), or more than one Stanford parameter (p = 0.171). AMF was not significantly associated with the risk of STUMP recurrence at both univariate (HR = 0.366; p = 0.188) and multivariate analyses (HR = 0.528; p = 0.463). In STUMP of the uterus and uterine adnexa, AMF are more common in the case of significant cytologic atypia, but do not seem to increase the risk of recurrence. Further studies are necessary in this regard.
Non-genetic factors that influence methamphetamine intake in a genetic model of differential methamphetamine consumption.
Psychopharmacology, 2020

Genetic and non-genetic factors influence substance use disorders. Our previous work in genetic mouse models focused on genetic factors that influence methamphetamine (MA) intake. The current research examined several non-genetic factors for their potential influence on this trait.
Multi-layer Trajectory Clustering: a Network Algorithm for Disease Subtyping.
Biomedical physics & engineering express, 2020

Many diseases display heterogeneity in clinical features and their progression, indicative of the existence of disease subtypes. Extracting patterns of disease variable progression for subtypes has tremendous application in medicine, for example, in early prognosis and personalized medical therapy. This work presents a novel, data-driven, network-based Trajectory Clustering (TC) algorithm for identifying Parkinson's subtypes based on disease trajectory. Modeling patient-variable interactions as a bipartite network, TC first extracts communities of co-expressing disease variables at different stages of progression. Then, it identifies Parkinson's subtypes by clustering similar patient trajectories that are characterized by severity of disease variables through a multi-layer network. Determination of trajectory similarity accounts for direct overlaps between trajectories as well as second-order similarities, i.e., common overlap with a third set of trajectories. This work clusters trajectories across two types of layers: (a) temporal, and (b) ranges of independent outcome variable (representative of disease severity), both of which yield four distinct subtypes. The former subtypes exhibit differences in progression of disease domains (Cognitive, Mental Health etc.), whereas the latter subtypes exhibit different degrees of progression, i.e., some remain mild, whereas others show significant deterioration after 5 years. The TC approach is validated through statistical analyses and consistency of the identified subtypes with medical literature. This generalizable and robust method can easily be extended to other progressive multi-variate disease datasets, and can effectively assist in targeted subtype-specific treatment in the field of personalized medicine.
Bridging the Gap between Philosophers of Mind and Brain Researchers: The Example of Addiction.
Mens sana monographs, 2011

Philosophers and psychologists have long tried to understand people's irrational behaviour through concepts such as weakness of will, compulsion and addiction. The scientific basis of the project has been greatly enhanced by advances in cognitive psychology and neuroscience. However, some philosophers have also been critical of the more general conclusions drawn by the scientists. This is especially true when scientific researchers start making claims that go to philosophical issues, such as free will and responsibility. Conversely, some scientists have been critical of philosophical approaches for not understanding the results of recent research. I examined some of the recent history of scientific claims about addiction, and the rise of the claims from scientists to have shown that addiction is a brain disease and that addictive behaviour is compulsive. Given the well-confirmed evidence that addicts can modulate their behaviour in response to rewards, punishments and context, it is clear that according to normal definitions of compulsivity the behaviour of addicts is not typically compulsive, suggesting that neuroscientists are making an error in their interpretation of data. Since philosophers have expertise in making distinctions between different kinds of action and categorising them as free, weak-willed and compulsive, we will achieve a better interpretation of the neuroscience of addiction when taking this philosophical work into account. Conversely, given the status of science in the modern world, philosophers have to grapple with the latest neuroscientific discoveries and show the compatibility of their philosophical theories with the data for their approaches to maintain credibility.