rudyvdbrink/CitationDatabase huggingface dataset:
[Radiobiological features of anti-cancer treatments involving synchrotron radiation: outcome and perspectives].
Cancer radiotherapie : journal de la Societe francaise de radiotherapie oncologique, 2010

Each technological development of radiotherapy is an example of interaction between physicians and physicists. In the past, it was the case for the first X-rays generators, betatrons and particle accelerators. To date, this is the case for Cyberknives and intensity modulation radiotherapy. In the future, this will be the case for proton- and hadron-therapy. However, in a general tendency of favouring higher radiation energies, leaving the 250kV orthovoltage irradiators and preferring accelerators delivering some tens MeV to reach the deepest tumours, how to consider the anti-cancer applications of synchrotron radiation that provides X-rays in the 10-100keV "only"? Since the first approaches developed in the USA in seventies until the last preclinical trials performed at the European Synchrotron Radiation Facility of Grenoble, the radiobiological features of the chemoradiotherapy involving synchrotron radiation will be described and analysed throughout a transversal view considering physicochemical bases, biomolecular and cellular mechanisms and results from the preclinical trials in order to provide a general outcome and some eventual transfer perspectives.
Making sense of missense variants in TTN-related congenital myopathies.
Acta neuropathologica, 2021

Mutations in the sarcomeric protein titin, encoded by TTN, are emerging as a common cause of myopathies. The diagnosis of a TTN-related myopathy is, however, often not straightforward due to clinico-pathological overlap with other myopathies and the prevalence of TTN variants in control populations. Here, we present a combined clinico-pathological, genetic and biophysical approach to the diagnosis of TTN-related myopathies and the pathogenicity ascertainment of TTN missense variants. We identified 30 patients with a primary TTN-related congenital myopathy (CM) and two truncating variants, or one truncating and one missense TTN variant, or homozygous for one TTN missense variant. We found that TTN-related myopathies show considerable overlap with other myopathies but are strongly suggested by a combination of certain clinico-pathological features. Presentation was typically at birth with the clinical course characterized by variable progression of weakness, contractures, scoliosis and respiratory symptoms but sparing of extraocular muscles. Cardiac involvement depended on the variant position. Our biophysical analyses demonstrated that missense mutations associated with CMs are strongly destabilizing and exert their effect when expressed on a truncating background or in homozygosity. We hypothesise that destabilizing TTN missense mutations phenocopy truncating variants and are a key pathogenic feature of recessive titinopathies that might be amenable to therapeutic intervention.
SETMAR isoforms in glioblastoma: A matter of protein stability.
Oncotarget, 2017

Glioblastomas (GBMs) are the most frequent and the most aggressive brain tumors, known for their chemo- and radio-resistance, making them often incurable. We also know that SETMAR is a protein involved in chromatin dynamics and genome plasticity, of which overexpression confers chemo- and radio-resistance to some tumors. The relationships between SETMAR and GBM have never been explored. To fill this gap, we define the SETMAR status of 44 resected tumors and of GBM derived cells, at both the mRNA and the protein levels. We identify a new, small SETMAR protein (so called SETMAR-1200), enriched in GBMs and GBM stem cells as compared to the regular enzyme (SETMAR-2100). We show that SETMAR-1200 is able to increase DNA repair by non-homologous end-joining, albeit with a lower efficiency than the regular SETMAR protein. Interestingly, the regular/small ratio of SETMAR in GBM cells changes depending on cell type, providing evidence that SETMAR expression is regulated by alternative splicing. We also demonstrate that SETMAR expression can be regulated by the use of an alternative ATG. In conclusion, various SETMAR proteins can be synthesized in human GBM that may each have specific biophysical and/or biochemical properties and characteristics. Among them, the small SETMAR may play a role in GBMs biogenesis. On this basis, we would like to consider SETMAR-1200 as a new potential therapeutic target to investigate, in addition to the regular SETMAR protein already considered by others.
Predicting neurological outcome after out-of-hospital cardiac arrest with cumulative information; development and internal validation of an artificial neural network algorithm.
Critical care (London, England), 2021

Prognostication of neurological outcome in patients who remain comatose after cardiac arrest resuscitation is complex. Clinical variables, as well as biomarkers of brain injury, cardiac injury, and systemic inflammation, all yield some prognostic value. We hypothesised that cumulative information obtained during the first three days of intensive care could produce a reliable model for predicting neurological outcome following out-of-hospital cardiac arrest (OHCA) using artificial neural network (ANN) with and without biomarkers.
Psychiatric disorders in adolescent and young adult patients with phenylketonuria.
Molecular genetics and metabolism, 2016

Psychiatric symptoms are a challenging aspect in adolescent and adult early treated phenylketonuric (ETPKU) patients. To assess the occurrence of psychiatric disorders we explored the presence of symptoms requiring intervention and further investigated the link between psychiatric disorders, the quality of biochemical control and cognitive functioning.
Efficacy and tolerability of subcutaneously administered immunoglobulin in myasthenia gravis: A systematic review.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia, 2020

Subcutaneous immunoglobulin (SCIg) is an emerging therapeutic alternative in the management of myasthenia gravis (MG) due to its potential efficacy, safety, cost effectiveness and ease of administration. At present, there are no systematic reviews that summarized the effects of SCIg in patients with MG. The objective of this study is to determine the efficacy and safety of SCIg in the treatment of adult patients with myasthenia gravis. Relevant records were identified from August 2018 to January 2019 systematic search. Five relevant articles with a total of 34 patients with MG were included in this review. Data on functional disability score and adverse events were obtained. Based on the included uncontrolled studies, the functional disability scores of adult MG patients after SCIg administration showed consistent improvement. Headache and local site injection reactions were the most common adverse events reported. The evidence from limited uncontrolled studies gathered in this review showed that SCIg may improve functional disability in patients with MG. Local and mild adverse events were reported with its administration, but no systemic and serious adverse events were noted.
Perceived needs and satisfaction with care in people with multiple sclerosis: a two-year prospective study.
BMC neurology, 2008

Considering the costs of multiple sclerosis (MS), it is crucial that the health-related services supplied are in accordance with needs as they are perceived by people with MS (PwMS). Satisfaction with care is related to quality of care and can provide health care providers with the means for improvement. The aim was to explore the perceived needs and satisfaction with care amongst PwMS over a two-year period, also taking sex and disease severity into consideration.
A wearable heart rate measurement device for children with autism spectrum disorder.
Scientific reports, 2020

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by early impairment in social and communication domains and autonomic nervous system unbalance. This study evaluated heart rate (HR) as a possible indicator of stress response in children with ASD as compared to children with language disorder (LD). Twenty-four patients [mean age = 42.62 months; SD = 8.14 months,12 with ASD (10 M/2F) and 12 with LD (8 M/4F)] underwent clinical [Leiter International Performance Scale-Revised, Autism Diagnostic Observation Schedule, second edition (ADOS-2)] and physiological evaluation (HR monitoring) during five interactive activities, while wearing an HR measurement device. IQ (ASD:IQ = 103.33 ± 12.85 vs. LD:IQ = 111.00 ± 8.88, p = 0.103) and fluid reasoning on the Leiter-R Scale were within the normal range in all subjects. Increased HR during the third activity (ADOS-2 bubble play) significantly correlated with autistic symptoms (r = 0.415; p = 0.044), while correlations between ADOS-2 total score and HR during the first activity (ADOS-2 free play; r = 0.368; p = 0.077), second activity (Leiter-R figure ground subscale; r = 0.373, p = 0.073), and fifth activity (ADOS-2 anticipation of a routine with objects; r = 0.368; p = 0.076) did not quite reach statistical significance. Applying a linear regression model, we found that the ADOS-2 total score significantly influenced HR variations (p = 0.023). HR monitoring may provide a better understanding of the stress-provoking situations for children with ASD. Furthermore, it could help clinicians detect the impact of the stressful condition on the autistic core and adress treatment strategy.
The meta-memory ratio: a new cohort-independent way to measure cognitive awareness in asymptomatic individuals at risk for Alzheimer's disease.
Alzheimer's research & therapy, 2020

Lack of awareness of cognitive decline (ACD) has been described at the preclinical and prodromal stages of Alzheimer's disease (AD). In this study, we introduced a meta-memory ratio (MMR) and explored how it is associated with neuroimaging AD biomarkers in asymptomatic individuals at risk for AD.
Barthel Index and modified Rankin Scale: Psychometric properties during medication phases in idiopathic Parkinson disease.
Annals of physical and rehabilitation medicine, 2020

Independence in activities of daily living (ADL) is one of the most important aspects in planning treatment for people with Parkinson disease (PD). The Barthel Index (BI) and modified Rankin Scale (mRS) are commonly used in neurological diseases.
Measuring "waiting" impulsivity in substance addictions and binge eating disorder in a novel analogue of rodent serial reaction time task.
Biological psychiatry, 2014

Premature responding is a form of motor impulsivity that preclinical evidence has shown to predict compulsive drug seeking but has not yet been studied in humans. We developed a novel translation of the task, based on the rodent 5-choice serial reaction time task, testing premature responding in disorders of drug and natural food rewards.
Appropriate training based on Balint groups can improve the empathic abilities of medical students: a preliminary study.
Journal of psychosomatic research, 2014

Although empathy is critical in a doctor-patient relationship, empathic abilities seem to decline throughout medical school. This study aimed at examining changes in empathic abilities of fourth-year medical students who participated in an optional certificate based on Balint groups.
Complications associated with anemia and blood transfusion in patients with aneurysmal subarachnoid hemorrhage.
Critical care medicine, 2008

Patients with subarachnoid hemorrhage (SAH) frequently develop delayed cerebral ischemia and may be especially vulnerable to the effects of anemia. However, the potentially harmful effects of allogeneic red blood cells are increasingly being recognized. The optimal transfusion threshold is unknown, but current practice most often uses a liberal approach. We assessed the association between anemia or transfusion and subsequent adverse outcomes.
The relationship between childhood trauma, emotion recognition, and irritability in schizophrenia patients.
Psychiatry research, 2017

This study investigated the relationship between childhood trauma, irritability, and emotion recognition, in schizophrenia patients during a psychotic break. Thirty-six schizophrenia inpatients and 36 healthy controls were assessed with the Irritability Questionnaire (IRQ) and two facial emotion recognition tasks, the Emotion Discrimination Test (EDT) and Emotion Identification Test (EIT). Patients were further assessed with the Structured Clinical Interview for DSM III-R Axis II Disorders (SCID-II), the Positive and Negative Symptom Scale (PANSS), and the Childhood Trauma Questionnaire-28 (CTQ-28). EDT and EIT performance was significantly impaired in patients compared to healthy controls. Furthermore, patients tended to misidentify sad, surprised, or angry faces as showing fear, and this misidentification correlated with the patients' irritability. Childhood adversity increased irritability both directly and indirectly through emotion misidentification.
It was not MY fault: event-related brain potentials in active and observational learning from feedback.
Cerebral cortex (New York, N.Y. : 1991), 2010

Performance feedback during learning is accompanied by a negative event-related potentials (ERP) component, the feedback-related negativity (FRN), which codes a reward prediction error. An open issue relates to the coding of feedback stimuli in observational learning. The present study aimed to determine differences in the neural processing of feedback in active and observational learners in a between-subjects design. By choosing between different stimuli, 15 active learners could learn a rule determining the probability of monetary reward. Each of the 15 observers was yoked to the performance of one active learner. In test trials, observers could prove whether they had gained insight into the rule. Although both groups learned at a comparable rate, FRN amplitudes following negative feedback were significantly reduced in observational relative to active learners, whereas there was no difference for the FRN in response to positive feedback. Additionally, between-group differences were already observed in the time window preceding the FRN, between 150 and 220 ms after feedback onset. The processing of feedback stimuli thus depends upon the direct relevance for one's own action planning. The FRN as an error signal indicating the need for behavioral adaptation appears to be especially relevant, if negative feedback is linked to agency.
Two hours of evening reading on a self-luminous tablet vs. reading a physical book does not alter sleep after daytime bright light exposure.
Sleep medicine, 2016

The use of electronic devices emitting blue light during evening hours has been associated with sleep disturbances in humans, possibly due to the blue light-mediated suppression of the sleep-promoting hormone melatonin. However, experimental results have been mixed. The present study therefore sought to investigate if reading on a self-luminous tablet during evening hours would alter sleepiness, melatonin secretion, nocturnal sleep, as well as electroencephalographic power spectral density during early slow-wave sleep.
Typical and Atypical Development of Functional Connectivity in the Face Network.
The Journal of neuroscience : the official journal of the Society for Neuroscience, 2015

Extensive studies have demonstrated that face recognition performance does not reach adult levels until adolescence. However, there is no consensus on whether such prolonged improvement stems from development of general cognitive factors or face-specific mechanisms. Here, we used behavioral experiments and functional magnetic resonance imaging (fMRI) to evaluate these two hypotheses. With a large cohort of children (n = 379), we found that the ability of face-specific recognition in humans increased with age throughout childhood and into late adolescence in both face memory and face perception. Neurally, to circumvent the potential problem of age differences in task performance, attention, or cognitive strategies in task-state fMRI studies, we measured the resting-state functional connectivity (RSFC) between the occipital face area (OFA) and fusiform face area (FFA) in human brain and found that the OFA-FFA RSFC increased until 11-13 years of age. Moreover, the OFA-FFA RSFC was selectively impaired in adults with developmental prosopagnosia (DP). In contrast, no age-related changes or differences between DP and normal adults were observed for RSFCs in the object system. Finally, the OFA-FFA RSFC matured earlier than face selectivity in either the OFA or FFA. These results suggest the critical role of the OFA-FFA RSFC in the development of face recognition. Together, our findings support the hypothesis that prolonged development of face recognition is face specific, not domain general.
Effects of exercise training in patients with chronic obstructive pulmonary disease--a narrative review for FYSS (Swedish Physical Activity Exercise Prescription Book).
British journal of sports medicine, 2016

The aims of this review were to determine the level of evidence for exercise training in the management of patients with chronic obstructive pulmonary disease (COPD) and provide evidence-based recommendations on exercise training. This review was performed in PubMed and Cochrane Library. Included studies investigated patients with COPD who had been randomised to exercise training or no training. Six systematic reviews were included. The methodological quality was scored using a grading system (GRADE). The analysis showed that aerobic and resistance training in patients in a stable state of COPD results in improved health-related quality of life and decreased dyspnoea, anxiety and depression (moderately strong scientific evidence, grade +++), and increased physical capacity and decreased dyspnoea in daily activities (limited scientific evidence, grade ++). In patients with an acute exacerbation, aerobic and resistance training, performed directly after the exacerbation, results in improved health-related quality of life (moderately strong scientific evidence, grade +++), improved exercise capacity and decreased mortality and hospitalisation (limited scientific evidence, grade ++). Thus, patients with COPD should be recommended to take part in exercise training.
Genetic inactivation and pharmacological blockade of sigma-1 receptors prevent paclitaxel-induced sensory-nerve mitochondrial abnormalities and neuropathic pain in mice.
Molecular pain, 2014

Paclitaxel, a widely-used antineoplastic drug, produces a painful peripheral neuropathy that in rodents is associated with peripheral-nerve mitochondrial alterations. The sigma-1 receptor (σ1R) is a ligand-regulated molecular chaperone involved in mitochondrial calcium homeostasis and pain hypersensitivity. This receptor plays a key role in paclitaxel-induced neuropathic pain, but it is not known whether it also modulates mitochondrial abnormalities.In this study, we used a mouse model of paclitaxel-induced neuropathic pain to test the involvement of the σ1R in the mitochondrial abnormalities associated with paclitaxel, by using genetic (σ1R knockout mice) and pharmacological (σ1R antagonist) approaches.
Effects of tolcapone and bromocriptine on cognitive stability and flexibility.
Psychopharmacology, 2018

The prefrontal cortex (PFC) and basal ganglia (BG) have been associated with cognitive stability and cognitive flexibility, respectively. We hypothesized that increasing PFC dopamine tone by administering tolcapone (a catechol-O-methyltransferase (COMT) inhibitor) to human subjects should promote stability; conversely, increasing BG dopamine tone by administering bromocriptine (a D2 receptor agonist) should promote flexibility.
Reduced Value-Driven Attentional Capture Among Children with ADHD Compared to Typically Developing Controls.
Journal of abnormal child psychology, 2018

The current study examined whether children with ADHD were more distracted by a stimulus previously associated with reward, but currently goal-irrelevant, than their typically-developing peers. In addition, we also probed the associated cognitive and motivational mechanisms by examining correlations with other behavioral tasks. Participants included 8-12 year-old children with ADHD (n = 30) and typically developing controls (n = 26). Children were instructed to visually search for color-defined targets and received monetary rewards for accurate responses. In a subsequent search task in which color was explicitly irrelevant, we manipulated whether a distractor item appeared in a previously reward-associated color. We examined whether children responded more slowly on trials with the previously-rewarded distractor present compared to trials without this distractor, a phenomenon referred to as value-driven attentional capture (VDAC), and whether children with and without ADHD differed in the extent to which they displayed VDAC. Correlations among working memory performance, immediate reward preference (delay discounting) and attentional capture were also examined. Children with ADHD were significantly less affected by the presence of the previously rewarded distractor than were control participants. Within the ADHD group, greater value-driven attentional capture was associated with poorer working memory. Although both ADHD and control participants were initially distracted by previously reward-associated stimuli, the magnitude of distraction was larger and persisted longer among control participants.
Hippocampal proteomic changes of susceptibility and resilience to depression or anxiety in a rat model of chronic mild stress.
Translational psychiatry, 2019

Chronic stressful occurrences are documented as a vital cause of both depression and anxiety disorders. However, the stress-induced molecular mechanisms underlying the common and distinct pathophysiology of these disorders remains largely unclear. We utilized a chronic mild stress (CMS) rat model to differentiate and subgroup depression-susceptible, anxiety-susceptible, and insusceptible rats. The hippocampus was analyzed for differential proteomes by combining mass spectrometry and the isobaric tags for relative and absolute quantitation (iTRAQ) labeling technique. Out of 2593 quantified proteins, 367 were aberrantly expressed. These hippocampal protein candidates might be associated with susceptibility to stress-induced depression or anxiety and stress resilience. They provide the potential protein systems involved in various metabolic pathways as novel investigative protein targets. Further, independent immunoblot analysis identified changes in Por, Idh2 and Esd; Glo1, G6pdx, Aldh2, and Dld; Dlat, Ogdhl, Anxal, Tpp2, and Sdha that were specifically associated to depression-susceptible, anxiety-susceptible, or insusceptible groups respectively, suggesting that identical CMS differently impacted the mitochondrial and metabolic processes in the hippocampus. Collectively, the observed alterations to protein abundance profiles of the hippocampus provided significant and novel insights into the stress regulation mechanism in a CMS rat model. This might serve as the molecular basis for further studies that would contributed to a better understanding of the similarities and differences in pathophysiologic mechanisms underlying stress-induced depression or anxiety, and stress resiliency.
Supravalvular Aortic Stenosis Caused by a Familial Chromosome 7 Inversion Disrupting the 
Molecular syndromology, 2019

Apparently, balanced chromosomal rearrangements usually have no phenotypic consequences for the carrier. However, in some cases, they may be associated with an abnormal phenotype. We report herein the case of a 4-year-old boy presenting with clinically isolated supravalvular aortic stenosis (SVAS). No chromosomal imbalance was detected by array CGH. The karyotype showed a balanced paracentric chromosome 7 inversion. Breakpoint characterization using paired-end whole-genome sequencing (WGS) revealed an