0000000000476449

AUTHOR

Benoit Trojak

showing 20 related works from this author

Biopsychosocial approach to caregiving burden: Why should we care about caregivers’ health?

2018

There are 11 million family caregivers in France and some estimates indicate that there will be 17 million in 2020.Caregiving is a source of chronic stress that requires adaptation and coping strategies.Caregiving may benefit the health of a caregiver with a positive coping style and altruistic goals.However, the caregiver's burden is frequently associated with negative effects in terms of biopsychosocial imbalance and medical conditions, with frequent anxiety and depression.The management of the caregiving burden starts with the recognition of health professionals – caregivers may benefit from consultation-liaison psychiatry and multidisciplinary medico-social strategies, in addition to co…

stresslifediseaseexperience[SDV.MHEP] Life Sciences [q-bio]/Human health and pathologyspousesdementia patientsmental-illnesshome-care[SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]mortalityrisk
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Behavioral and Neural Arguments of Motivational Influence on Decision Making During Uncertainty

2020

The scientific world is increasingly interested in motivation, primarily due to the suspected impact on decision-making abilities, particularly in uncertain conditions. To explore this plausible relationship, 28 healthy participants were included in the study and performed decision-making and motivational tasks while their neural activity was recorded. All participants performed the Iowa Gambling Task (IGT) and were split into two groups based on their score, one favorable group with 14 participants who performed advantageously and one undecided group with 14 participants who failed to develop the correct strategy on the IGT. In addition, all participants performed the Effort Expenditure fo…

EEfRTeffortElectroencephalographyOutcome (game theory)050105 experimental psychologyTask (project management)lcsh:RC321-57103 medical and health sciencesNeural activity0302 clinical medicinemotivationReward sensitivitymedicine0501 psychology and cognitive sciencesP300uncertaintylcsh:Neurosciences. Biological psychiatry. NeuropsychiatryOriginal Researchmedicine.diagnostic_testGeneral Neuroscience05 social sciencesIGTdecision-makingP300 amplitudeIowa gambling taskGroup analysisPsychology030217 neurology & neurosurgeryNeuroscienceCognitive psychologyFrontiers in Neuroscience
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Mast cells' involvement in inflammation pathways linked to depression: evidence in mastocytosis

2016

International audience; Converging sources of evidence point to a role for inflammation in the development of depression, fatigue and cognitive dysfunction. More precisely, the tryptophan (TRP) catabolism is thought to play a major role in inflammation-induced depression. Mastocytosis is a rare disease in which chronic symptoms, including depression, are related to mast cell accumulation and activation. Our objectives were to study the correlations between neuropsychiatric features and the TRP catabolism pathway in mastocytosis in order to demonstrate mast cells' potential involvement in inflammation-induced depression. Fifty-four patients with mastocytosis and a mean age of 50.1 years were…

Male0301 basic medicine[SHS.PSY]Humanities and Social Sciences/PsychologyKynurenic Acidchemistry.chemical_compound0302 clinical medicineKynurenic acidMast CellsIndoleamine 23-dioxygenaseAcute stressQuinolinic acidKynurenineDepression (differential diagnoses)DepressionTryptophanMiddle AgedMast cellRat-brain3. Good healthPsychiatry and Mental healthmedicine.anatomical_structure[ SCCO.NEUR ] Cognitive science/NeuroscienceFemalemedicine.symptomMastocytosisSerotoninmedicine.medical_specialtyInflammationAryl-hydrocarbon receptorCentral-nervous-system[ SHS.PSY ] Humanities and Social Sciences/Psychology03 medical and health sciencesCellular and Molecular NeuroscienceInternal medicinemedicineHumansIndoleamine-Pyrrole 23-Dioxygenase[SDV.BBM]Life Sciences [q-bio]/Biochemistry Molecular Biology[ SDV.BBM ] Life Sciences [q-bio]/Biochemistry Molecular BiologyMolecular BiologyInflammationPsychiatric Status Rating ScalesDepressive Disorder Majorbusiness.industry[SCCO.NEUR]Cognitive science/NeuroscienceBeck Depression InventoryInterferon-alphaMammalian brain030104 developmental biologyEndocrinologyImmune-systemchemistryImmunologyIndoleamine 2?3-dioxygenasebusinessStress Psychological030217 neurology & neurosurgeryKynurenineQuinolinic acid
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Transcranial Magnetic Stimulation Combined With Nicotine Replacement Therapy for Smoking Cessation: A Randomized Controlled Trial.

2015

Abstract Background Further evidence suggests that repetitive Transcranial Magnetic Stimulation (rTMS) is an effective method to reduce tobacco craving among smokers. Hypothesis As relapse is common within a few days after smoking cessation, we hypothesized that combining the anti-craving effects of rTMS with Nicotine replacement therapy (NRT) to attenuate withdrawal symptoms could increase abstinence rates in smokers with severe nicotine dependence who quit smoking. Methods Thirty-seven smokers who failed to quit with the usual treatments were randomly assigned to two treatment groups to receive either active ( n  = 18) or sham ( n  = 19) 1-Hz rTMS of the right dorsolateral prefrontal cort…

CessationAdultMaleNicotinemedicine.medical_specialtymedicine.medical_treatmentmedia_common.quotation_subjectBiophysicsPrefrontal CortexCravingbehavioral disciplines and activitieslcsh:RC321-571law.inventionNicotineYoung AdultRandomized controlled triallawTobaccomental disordersmedicineHumansSingle-Blind MethodPsychiatrylcsh:Neurosciences. Biological psychiatry. Neuropsychiatrymedia_commonCravingGeneral NeuroscienceTobacco Use DisorderAbstinenceMiddle AgedNicotine replacement therapyCombined Modality TherapyTranscranial Magnetic StimulationTobacco Use Cessation DevicesTranscranial magnetic stimulationTreatment Outcomenervous systemAnesthesiaCombinationbehavior and behavior mechanismsSmoking cessationFemaleSmoking CessationNeurology (clinical)medicine.symptomTobacco Use Cessation ProductsPsychologypsychological phenomena and processesmedicine.drugBrain stimulation
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Medications between psychiatric and addictive disorders

2016

International audience; Introduction : Many epidemiological studies have revealed a frequent co-occurrence of psychiatric and substance use disorders. The term used in the literature to refer to this co-occurrence is dual diagnosis. The high prevalence of dual diagnosis has led physicians to observe the effects of medication prescribed to treat psychiatric disorders on the co-occurring substance use disorder and vice versa. The concept of medications between psychiatric and addictive disorders stems from these clinical observations, alongside which, however, it has developed from the observation that both psychiatric and substance use disorders share common neurobiological pathways and trig…

medicine.medical_specialtyPsychotherapistSubstance-Related Disordersmedia_common.quotation_subject[SDV]Life Sciences [q-bio][ SDV.MHEP.PSM ] Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental healthAddictionModafinilMirtazapine[ SCCO.PSYC ] Cognitive science/Psychology03 medical and health sciences0302 clinical medicineCognitionEpidemiology of child psychiatric disordersmedicineAnimalsHumansDual diagnosisMedical prescriptionPsychiatryClozapineBiological PsychiatryDepression (differential diagnoses)ComputingMilieux_MISCELLANEOUSmedia_commonPharmacologyPsychotropic DrugsDepressionAddictionmedicine.disease3. Good health030227 psychiatrySubstance abuseClinical researchSchizophreniaDiagnosis Dual (Psychiatry)[SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health[SCCO.PSYC]Cognitive science/PsychologySchizophreniaDual diagnosisPsychologyPsychiatric disorders030217 neurology & neurosurgery
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Prolonged-release buprenorphine formulations: Perspectives for clinical practice

2020

International audience; Buprenorphine and methadone are the two main opioid agonist treatments approved for opioid use disorder. Buprenorphine is a partial agonist of the mu opioid receptors, which has been merely available through sublingual form until now. In practice, the use of buprenorphine is smoother than that of methadone, and it induces reduced risks of overdose. However, sublingual buprenorphine also exposes to risks (e.g., withdrawal, misuse) and constraints (e.g., daily intake). Three new galenic formulations of prolonged-release buprenorphine (PRB) are being commercialized and should allow some improvements in patients' comfort and safety. This narrative review aims to describe…

medicine.medical_specialtyDoseNarcotic Antagonists[SDV.MHEP.PSM] Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental healthReceptors Opioid mu030226 pharmacology & pharmacyPartial agonistOpioid dependenceDependance aux opioides03 medical and health sciencesSubcutaneous injection0302 clinical medicineProlonged releasemedicineHumansProlonged-releasePharmacology (medical)OpiacésAction prolongeebusiness.industryOpioid use disorderOpioid-Related Disordersmedicine.disease3. Good healthBuprenorphineAnalgesics OpioidOpiatesOpioid[SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental healthEmergency medicinebusinessSubstitutionMethadoneBuprenorphinemedicine.drugMethadone
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Cognitive effects of labeled addictolytic medications

2017

Abstract Introduction Alcohol, tobacco, and illegal drug usage is pervasive throughout the world, and abuse of these substances is a major contributor to the global disease burden. Many pharmacotherapies have been developed over the last 50 years to target addictive disorders. While the efficacy of these pharmacotherapies is largely recognized, their cognitive impact is less known. However, all substance abuse disorders are known to promote cognitive disorders like executive dysfunction and memory impairment. These impairments are critical for the maintenance of addictive behaviors and impede cognitive behavioral therapies that are regularly administered in association with pharmacotherapie…

medicine.medical_specialtySubstance-Related Disordersmedia_common.quotation_subjectAlcohol abuse03 medical and health scienceschemistry.chemical_compoundCognition0302 clinical medicinemedicineAnimalsHumansVareniclinePsychiatryBiological PsychiatryNalmefenemedia_commonPharmacologyAddictionCognitionmedicine.disease030227 psychiatrySubstance abusechemistryPsychology030217 neurology & neurosurgeryCentral Nervous System AgentsClinical psychologymedicine.drugExecutive dysfunctionBuprenorphineProgress in Neuro-Psychopharmacology and Biological Psychiatry
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Activation of a ΔFOSB dependent gene expression pattern in the dorsolateral prefrontal cortex of patients with major depressive disorder

2010

Abstract Background A ΔFOSB mediated transcriptional response in the nucleus accumbens (NAc) is induced by chronic social stress in rodent and a 50% down-regulation of ΔFOSB has been also reported in the NAc of eight depressed subjects. To evaluate the role of ΔFOSB in the prefrontal cortex which is critically involved in negative cognitive bias associated with major depressive disorder (MDD) we have quantified the mRNA levels of ΔFOSB and of five of its major target genes in the Brodmann area 46 from 24 patients with MDD (11 with psychotic symptoms) and 12 controls. Method Expression of the six genes has been quantified by a real-time quantitative PCR method: ΔFOSB , GRIA2 (encoding the Gl…

Malemedicine.medical_specialtyDown-RegulationGene ExpressionPrefrontal CortexNerve Tissue ProteinsAMPA receptorNucleus accumbensNucleus AccumbensInternal medicineBrodmann area 46medicineHumansReceptors AMPAGRIA2Prefrontal cortexAgedSecretogranin IIIDepressive DisorderDepressive Disorder MajorbiologyDepressionMiddle AgedAntidepressive AgentsDorsolateral prefrontal cortexPsychiatry and Mental healthClinical PsychologyEndocrinologymedicine.anatomical_structurePCP4Case-Control Studiesbiology.proteinFemalePsychologyProto-Oncogene Proteins c-fosNeuroscienceJournal of Affective Disorders
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Type A competitiveness traits correlate with downregulation of c-Fos expression in patients with type 1 diabetes.

2019

International audience; AimType A personality has been associated with increased survival in people with type 1 diabetes (T1D). Systemic low-grade inflammation may play a critical role, as suggested in recent reports, although the links between the inflammatory circulating transcriptome and Type A remain unknown. This prompted our exploration of the potential associations between Type A personality and c-Fos gene expression, a candidate gene closely linked to inflammatory processes, in T1D.MethodsType A personality was assessed by Bortner questionnaire in patients with T1D, and two subscales – ‘speed’ and ‘competitiveness’ – were used to measure these specific dimensions of Type A. Expressi…

OncologyAdultMalemedicine.medical_specialtyCandidate geneInverse AssociationCompetitive BehaviorEndocrinology Diabetes and MetabolismDown-RegulationGene Expression030209 endocrinology & metabolismPilot Projects030204 cardiovascular system & hematologyType ATranscriptomeCohort Studies03 medical and health sciencesddc:616.890302 clinical medicineEndocrinologyInternal medicineGene expressionInternal MedicinemedicineHumansGene[SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolismInflammationType 1 diabetesc-FosBlood Cellsbusiness.industryGene Expression ProfilingDiabetesType A and Type B personality theoryType A PersonalityGeneral Medicine[SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolismMiddle Agedmedicine.diseaseCompetitivenessDiabetes Mellitus Type 1businessBody mass indexProto-Oncogene Proteins c-fosDiabetic AngiopathiesPersonalityDiabetesmetabolism
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Substance-use disorder in high-functioning autism: clinical and neurocognitive insights from two case reports

Psychiatry and Mental healthmental disordersbehavioral disciplines and activitiesBMC Psychiatry
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Buprénorphine d’action prolongée : quelles perspectives pour la pratique clinique ?

2020

Resume La buprenorphine et la methadone sont les deux traitements agonistes opioides indiques dans le trouble de l’usage des opiaces et opioides. La buprenorphine est un agoniste partiel des recepteurs opioides mu, jusqu’a present disponible exclusivement en administration sublinguale. En pratique, la buprenorphine est plus sure que la methadone, car elle induit un faible risque de surdosage. Cependant, la buprenorphine expose egalement a des risques (par exemple : syndromes de sevrage ou mesusages) et a des contraintes (prise quotidienne, souvent longue dissolution sublinguale). Trois nouvelles formulations galeniques de buprenorphine d’action prolongee (BAP) sont en cours de commercialisa…

Pharmacology (medical)Therapies
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Interest of targeting either cortical area Brodmann 9 or 46 in rTMS treatment for depression: a preliminary randomized study.

2013

Abstract Objective To assess the interest of specifically targeting Brodmann Areas (BA) 9 or 46 for rTMS treatment of depression. Methods Patients with Treatment-Resistant Depression were randomly assigned to two treatment groups to receive either rTMS on BA 9 or on BA 46. Each patient underwent 10 sessions of 1Hz-rTMS for 2weeks. The Hamilton and Montgomery–Asberg Depression Rating Scales (HDRS, MADRS) were used under blind conditions to assess the therapeutic response (50% improvement). A Wilcoxon signed-rank test was used to compare the depression rating scales scores obtained before and after the 10 rTMS sessions for each of the two groups. The therapeutic results in the two groups were…

AdultMalemedicine.medical_specialtyWilcoxon signed-rank testAudiologybehavioral disciplines and activitieslaw.inventionDepressive Disorder Treatment-ResistantRandomized controlled trialRating scalelawPhysiology (medical)medicineHumansPsychiatryDepression (differential diagnoses)AgedCerebral CortexBrain MappingMiddle AgedTranscranial Magnetic StimulationSensory SystemsDorsolateral prefrontal cortexmedicine.anatomical_structureNeurologyFemaleNeurology (clinical)PsychologyClinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
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Behavioral and Electrophysiological Arguments in Favor of a Relationship between Impulsivity, Risk-Taking, and Success on the Iowa Gambling Task

2019

The aim of the present study was to investigate the relationship between trait impulsivity, risk-taking, and decision-making performance. We recruited 20 healthy participants who performed the Iowa Gambling Task (IGT) and the Balloon Analog Risk Task (BART) to measure decision-making and risk-taking. The impulsivity was measured by the Barratt Impulsiveness Scale. Resting-state neural activity was recorded to explore whether brain oscillatory rhythms provide important information about the dispositional trait of impulsivity. We found a significant correlation between the ability to develop a successful strategy and the propensity to take more risks in the first trials of the BART. Risk-taki…

050103 clinical psychologyimpulsivityImpulsivityArticlelcsh:RC321-571Task (project management)Correlation03 medical and health sciences0302 clinical medicineBarratt Impulsiveness Scalemedicine0501 psychology and cognitive sciencestheta oscillationslcsh:Neurosciences. Biological psychiatry. Neuropsychiatryrisk-takingGeneral Neuroscience05 social sciencesIGTCognitiondecision-makingIowa gambling taskTraitBARTmedicine.symptomPsychologyRisk taking030217 neurology & neurosurgeryClinical psychologyBrain Sciences
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Event-Related Potentials (ERP) Indices of Motivation during the Effort Expenditure for Reward Task

2020

Dynamic and temporal facets of the various constructs that comprise motivation remain to be explored. Here, we adapted the Effort Expenditure for Reward Task, a well-known laboratory task used to evaluate motivation, to study the event-related potentials associated with reward processing. The Stimulus Preceding Negativity (SPN) and the P300 were utilized as motivation indicators with high density electroencephalography. The SPN was found to be more negative for difficult choices compared to easy choices, suggesting a greater level of motivation, at a neurophysiological level. The insula, a structure previously associated with both effort discounting and prediction error, was concomitantly a…

EEfRTMean squared prediction errorHigh densityElectroencephalographyStimulus (physiology)effortSPN050105 experimental psychologyArticlelcsh:RC321-57103 medical and health sciences0302 clinical medicinemotivationEvent-related potentialmedicine0501 psychology and cognitive sciencesP300lcsh:Neurosciences. Biological psychiatry. NeuropsychiatryDiscountingmedicine.diagnostic_testGeneral Neuroscience05 social sciencesNeurophysiologyPsychologyInsula030217 neurology & neurosurgeryCognitive psychologyBrain Sciences
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Determinants of interest in extended-released buprenorphine: A survey among 366 French patients treated with buprenorphine or methadone

2021

International audience; Aim: To explore the factors determining the interest in extended-release buprenorphine (XR-BUP) injections among patients receiving opioid agonist treatment (OAT) in France.Methods: 366 patients receiving OAT for opioid use disorder, recruited in 66 French centers, were interviewed from 12/2018 to 05/2019. A structured questionnaire assessed their interest in XR-BUP using a [1-10] Likert scale. 'More' vs. 'less' interested groups were defined using the median score of interest, and their characteristics were explored using adjusted odds ratios (aORs) and 95 % confidence interval (95 %CI). Independent variables were as follows: sociodemographic characteristics, OAT-re…

MaleNarcotic Antagonists[SDV]Life Sciences [q-bio]ToxicologyMESH: Analgesics Opioid0302 clinical medicineInterquartile rangeSurveys and QuestionnairesPharmacology (medical)030212 general & internal medicineSurveymedia_commonMESH: Patient PreferenceMESH: Middle AgedOpioid use disorderPatient PreferenceMiddle AgedBuprenorphineAnalgesics OpioidPsychiatry and Mental healthMESH: Young AdultFemaleFranceMESH: Narcotic AntagonistsPatients' preferencemedicine.drugAdultmedicine.medical_specialtyAdolescentMESH: Delayed-Action Preparationsmedia_common.quotation_subjectMESH: BuprenorphineMESH: Opiate Substitution TreatmentInjections03 medical and health sciencesYoung AdultInternal medicinemedicineOpiate Substitution TreatmentHumansMESH: InjectionsDosingMESH: Surveys and QuestionnairesPharmacologyMESH: AdolescentMESH: Humansbusiness.industryMESH: AdultOdds ratioAbstinencemedicine.diseaseOpioid-Related DisordersConfidence intervalMESH: MaleMESH: Opioid-Related DisordersMESH: FranceDelayed-Action PreparationsMESH: MethadoneExtended-releasebusinessMESH: Female030217 neurology & neurosurgeryMethadoneMethadoneBuprenorphine
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Impact biopsychosocial de la charge des aidants : pourquoi faut-il porter une attention spécifique envers la santé des aidants ?

2018

There are 11 million family caregivers in France and some estimates indicate that there will be 17 million in 2020. Caregiving is a source of chronic stress that requires adaptation and coping strategies. Caregiving may benefit the health of a caregiver with a positive coping style and altruistic goals. However, the caregiver's burden is frequently associated with negative effects in terms of biopsychosocial imbalance and medical conditions, with frequent anxiety and depression. The management of the caregiving burden starts with the recognition of health professionals - caregivers may benefit from consultation-liaison psychiatry and multidisciplinary medico-social strategies, in addition t…

Biopsychosocial modelGerontologyHealth professionalsFamily caregiversbusiness.industryPositive copingPsychological therapyGeneral Medicine030227 psychiatry03 medical and health sciences0302 clinical medicineMultidisciplinary approachCost of illnessMedicineAnxietymedicine.symptombusiness030217 neurology & neurosurgeryLa Presse Médicale
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Potential influence of Type A personality on plasma C-reactive protein levels in people with diabetes

2016

IF 4.693; Aim. Type A personality, although classically known as a factor linked to increased vascular risk, has recently been associated with increased survival in patients with diabetes. As low-grade inflammation predicts a poor outcome, the present study explored the potential associations between Type A and plasma levels of C-reactive protein (CRP) in diabetes. Methods. Type A personality was assessed by the Bortner questionnaire in people with diabetes. The association between Type A and plasma CRP levels was examined by multivariable linear regression, and structural equation modelling (SEM) was performed to determine the impact of the major clinical, biological and psychological conf…

MaleEndocrinology Diabetes and Metabolism[ SDV.AEN ] Life Sciences [q-bio]/Food and NutritionType 2 diabetesBody Mass Index0302 clinical medicineEndocrinologyc-reactive proteinWeight lossself-care030212 general & internal medicineProspective cohort studymedia_common2. Zero hungerbiologydiabetesGeneral Medicine[SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolismMiddle Aged[ SDV.MHEP.EM ] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolismanxiety3. Good healthFemalemedicine.symptomweight-lossAdultmedicine.medical_specialtymedia_common.quotation_subjectprospective cohort030209 endocrinology & metabolism03 medical and health sciencesInternal medicineDiabetes mellitus[ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathologyInternal MedicinemedicineHumansPersonalityAgedGlycated Hemoglobintype abusiness.industrybehaviorC-reactive proteinassociationType A PersonalityType A and Type B personality theorymedicine.disease5-factor modelmortalityEndocrinologyDiabetes Mellitus Type 2personalityinflammationbiology.proteinbusinesscoronary-heart-disease[SDV.AEN]Life Sciences [q-bio]/Food and NutritionBody mass index[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
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Leukocyte telomere length in mastocytosis: correlations with depression and perceived stress.

2013

Abstract Background Mastocytosisis a rare disease associated with chronic symptoms related to mast cell mediator release. Patients with mastocytosis display high level of negative emotionality such as depression and stress sensibility. Brain mast cells are mainly localized in the diencephalon, which is linked to emotion regulatory systems. Negative emotionality has been shown to be associated with telomere shortening. Taken together these observations led us to hypothesize that mast cells activity could be involved in both negative emotionality and telomere shortening in mastocytosis. Objective To demonstrate a possible relationship between negative emotionality in mastocytosis and leukocyt…

AdultMaleTelomeraseImmunologyPopulationPerceived Stress ScaleDiseaseBehavioral NeuroscienceYoung AdultmedicineHumanseducationDepression (differential diagnoses)Telomere ShorteningAgededucation.field_of_studyEndocrine and Autonomic SystemsDepressionBeck Depression InventoryMiddle AgedMast cellTelomeremedicine.anatomical_structureImmunologyLeukocytes MononuclearFemalePsychologyMastocytosisStress PsychologicalBrain, behavior, and immunity
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Type A personality is not associated with poor glycaemic control: Data from cross-sectional and longitudinal surveys of people with type 1 or type 2 …

2017

Diabetes & Metabolism - In Press.Proof corrected by the author Available online since lundi 8 aout 2016

AdultGerontologyAdolescentEndocrinology Diabetes and Metabolism030209 endocrinology & metabolismType 2 diabetesSelf-CareYoung Adult03 medical and health sciences0302 clinical medicineEndocrinologyResearch letterDiabetes mellitusInternal MedicineHumansMedicine030212 general & internal medicinePoor glycaemic controlMortalityAgedAged 80 and overGlycated HemoglobinBehaviorbusiness.industry5-Factor ModelPatternType A PersonalityType A and Type B personality theoryGeneral MedicineMiddle Aged[SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolismMetaanalysis[ SDV.MHEP.EM ] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolismmedicine.diseaseTraitsEuropeCross-Sectional StudiesDiabetes Mellitus Type 1Diabetes Mellitus Type 2business
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Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome

2017

International audience; Fragile-X syndrome (FXS) is a frequent genetic form of intellectual disability (ID). The main recurrent mutagenic mechanism causing FXS is the expansion of a CGG repeat sequence in the 5'-UTR of the FMR1 gene, therefore, routinely tested in ID patients. We report here three FMR1 intragenic pathogenic variants not affecting this sequence, identified using high-throughput sequencing (HTS): a previously reported hemizygous deletion encompassing the last exon of FMR1, too small to be detected by array-CGH and inducing decreased expression of a truncated form of FMRP protein, in three brothers with ID (family 1) and two splice variants in boys with sporadic ID: a de novo …

Male0301 basic medicinemedicine.medical_specialtycongenital hereditary and neonatal diseases and abnormalitiesdiagnosisRNA SplicingBiologymedicine.disease_causePolymorphism Single NucleotideArticleFragile X Mental Retardation Protein03 medical and health sciencesExonGenetic linkageplacebo-controlled trial[ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathologyMolecular geneticsGeneticsmedicineHumansgeneGenetics (clinical)GeneticsMutationintron 10SiblingsMiddle Agedmedicine.diseaseFMR1Human genetics3. Good healthFragile X syndromedevelopmental delayof-the-literature030104 developmental biologyintellectual disabilityFragile X SyndromeMutationmental-retardationMedical geneticsFemalepoint mutationdouble-blind[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
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