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showing 10 items of 6213 documents

Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic At…

2016

International audience; Early-onset epileptic encephalopathy (EOEE) represents a heterogeneous group of severe disorders characterized by seizures, interictal epileptiform activity with a disorganized electroencephalography background, developmental regression or retardation, and onset before 1 year of age. Among a cohort of 57 individuals with epileptic encephalopathy, we ascertained two unrelated affected individuals with EOEE associated with developmental impairment and autosomal-recessive variants in AP3B2 by means of whole-exome sequencing. The targeted sequencing of AP3B2 in 86 unrelated individuals with EOEE led to the identification of an additional family. We gathered five addition…

0301 basic medicineMaleMicrocephalyDevelopmental DisabilitiesPostnatal microcephalycopper-metabolismEpilepsy0302 clinical medicineexpansionhermansky-pudlak-syndromeddc:576.5Age of OnsetChilddisordersGenetics (clinical)seizuresGeneticsMEDNIK syndromeSyndrome3. Good healthPedigreeintellectual disabilityChild Preschoolmednik syndromeMicrocephalyFemaleDevelopmental regressionAdaptor Protein Complex 3Genes RecessiveBiologyAP3B103 medical and health sciencesAtrophyReport[ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathologyGeneticsmedicineHumansAdaptor Protein Complex beta SubunitsmousediseaseEpilepsyap-4 deficiencyInfant NewbornInfantmedicine.diseaseOptic Atrophy030104 developmental biologyMutationHermansky–Pudlak syndrome030217 neurology & neurosurgery[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
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Short‐term neuropsychiatric outcomes and quality of life in COVID‐19 survivors

2021

BACKGROUND: The general medical impacts of coronavirus (COVID-19) are increasingly appreciated. However, its impact on neurocognitive, psychiatric health and quality of life (QoL) in survivors after the acute phase is poorly understood. We aimed to evaluate neurocognitive function, psychiatric symptoms, and QoL in COVID-19 survivors shortly after hospital discharge. METHODS: This was a cross-sectional analysis of a prospective study of hospitalised COVID-19 survivors followed-up for 2 months after discharge. A battery of standardised instruments evaluating neurocognitive function, psychiatric morbidity, and QoL (mental and physical components) was administered by telephone. RESULTS: Of the …

0301 basic medicineMalePediatrics030204 cardiovascular system & hematologyAnxietySevere Acute Respiratory SyndromeStress Disorders Post-Traumatic0302 clinical medicineCognitionQuality of lifeOutcome Assessment Health CareMedicineVerbal fluency testProspective StudiesSurvivorsProspective cohort studyLetter to the EditorDepression (differential diagnoses)Aged 80 and overPsychiatryDepressionMiddle AgedsequelaehumanitiesMemory Short-TermneurocognitiveAnxietyFemaleOriginal Articlemedicine.symptomAdultmedicine.medical_specialtypsychiatric morbidity03 medical and health sciencesYoung AdultSex FactorsCOVID‐19Internal MedicineHumansAgedMemory Disordersbusiness.industryWorking memorySARS-CoV-2COVID-19Original Articles030104 developmental biologyCross-Sectional Studiesquality of lifeDeliriumbusinessCognition DisordersNeurocognitiveCOVID-19 neurocognitive psychiatric morbidity quality of life sequelaeJournal of Internal Medicine
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Characteristics of neonatal herpes simplex virus infections in Germany: results of a 2-year prospective nationwide surveillance study.

2021

ObjectiveTo assess incidence and burden of neonatal herpes simplex virus (HSV) infections and to explore possible transmission routes.MethodsA 2-year prospective nationwide surveillance study performed in 2017 and 2018. All German paediatric departments (n=464 in 2017, n=441 in 2018) were contacted on a monthly basis to report potential cases of neonatal HSV infections. Infants with a postnatal age of ≤60 days and a positive HSV PCR or HSV culture from skin, mucous membrane, vesicles or conjunctival smear, blood or cerebrospinal fluid were included in the study.Results37 cases were analysed. 29 patients who exhibited no or only mild clinical symptoms were discharged home without organ damag…

0301 basic medicineMalePediatricsmedicine.medical_specialtymedicine.medical_treatment030106 microbiology610 Medicine & healthLiver transplantationmedicine.disease_causeMedical Records03 medical and health sciences0302 clinical medicinePregnancy030225 pediatricsGermanyEpidemiologyMedicineHumansNeonatologyProspective StudiesPregnancy Complications Infectious610 Medicine & healthbusiness.industryTransmission (medicine)Incidence (epidemiology)IncidenceInfant NewbornObstetrics and GynecologyMucous membraneInfantHerpes SimplexGeneral MedicineInfectious Disease Transmission VerticalPostnatal ageHerpes simplex virusmedicine.anatomical_structurePopulation SurveillancePediatrics Perinatology and Child HealthFemalebusiness
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Is prolonged infusion of piperacillin/tazobactam and meropenem in critically ill patients associated with improved pharmacokinetic/pharmacodynamic an…

2016

Objectives: We utilized the database of the Defining Antibiotic Levels in Intensive care unit patients (DALI) study to statistically compare the pharmacokinetic/pharmacodynamic and clinical outcomes between prolonged- infusion and intermittent-bolus dosing of piperacillin/tazobactam and meropenem in critically ill patients using inclusion criteria similar to those used in previous prospective studies. Methods: This was a post hoc analysis of a prospective, multicentre pharmacokinetic point-prevalence study (DALI), which recruited a large cohort of critically ill patients from 68 ICUs across 10 countries. Results: Of the 211 patients receiving piperacillin/tazobactam and meropenem in the DAL…

0301 basic medicineMalePenicillanic Acidintensive care unitlaw.inventionthienamycin derivative abdominal infection[SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseaseslawcentral nervous system infectioncreatinine clearancePharmacology (medical)Infusions IntravenouProspective StudiesInfusions IntravenousProspective cohort studyTazobactam Drug CombinationAged; Anti-Bacterial Agents; Blood Chemical Analysis; Critical Illness; Female; Humans; Infusions Intravenous; Intensive Care Units; Male; Meropenem; Microbial Sensitivity Tests; Middle Aged; Penicillanic Acid; Piperacillin; Piperacillin Tazobactam Drug Combination; Prospective Studies; Thienamycins; Treatment Outcome; Pharmacology; Microbiology (medical); Pharmacology (medical); Infectious Diseasescritical illneMicrobial Sensitivity TestadultRespiratory infectionclinical trialMiddle Agedcontinuous infusionanalogs and derivativeIntensive care unit3. Good healthAnti-Bacterial Agentsantiinfective agentintravenous drug administrationIntensive Care Units[SDV.MP]Life Sciences [q-bio]/Microbiology and ParasitologyTreatment OutcomeInfectious DiseasesPiperacillin/tazobactammulticenter study (topic)SOFA scoreFemaletreatment outcome AgedIntravenousprospective studyHumanmedicine.drugsurvival rateMicrobiology (medical)medicine.medical_specialtyInfusionspost hoc analysirespiratory tract infectionCritical IllnessAged; Anti-Bacterial Agents; Blood Chemical Analysis; Critical Illness; Female; Humans; Infusions Intravenous; Intensive Care Units; Male; Microbial Sensitivity Tests; Middle Aged; Penicillanic Acid; Piperacillin; Prospective Studies; Thienamycins; Treatment Outcome; Pharmacology; Pharmacology (medical); Infectious Diseases030106 microbiologybloodstream infectionMicrobial Sensitivity Testsminimum inhibitory concentrationpiperacillin plus tazobactamMeropenemTazobactamArticle03 medical and health sciencescritically ill patientInternal medicineAnti-Bacterial AgentmedicineSequential Organ Failure Assessment ScoreHumansThienamycinsurvival timeblood analysiAgedPiperacillinPharmacologybusiness.industryBlood Chemical AnalysiMeropenemmajor clinical studySurgeryProspective Studiemulticenter studyPharmacology; Pharmacology (medical); Infectious Diseases[SDV.SP.PHARMA]Life Sciences [q-bio]/Pharmaceutical sciences/PharmacologyThienamycinspiperacillin tazobactam drug combinationurinary tract infectionbusinessBlood Chemical AnalysisPiperacillin
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Proteomic Analysis of Brain Region and Sex-Specific Synaptic Protein Expression in the Adult Mouse Brain

2020

Genetic disruption of synaptic proteins results in a whole variety of human neuropsychiatric disorders including intellectual disability, schizophrenia or autism spectrum disorder (ASD). In a wide range of these so-called synaptopathies a sex bias in prevalence and clinical course has been reported. Using an unbiased proteomic approach, we analyzed the proteome at the interaction site of the pre- and postsynaptic compartment, in the prefrontal cortex, hippocampus, striatum and cerebellum of male and female adult C57BL/6J mice. We were able to reveal a specific repertoire of synaptic proteins in different brain areas as it has been implied before. Additionally, we found a region-specific set…

0301 basic medicineMaleProteomicsCerebellumAgingcerebellumProteomehippocampusstriatumHippocampusNerve Tissue ProteinsBiologyArticleSynapse03 medical and health sciences0302 clinical medicinePostsynaptic potentialsynapsemedicinesexAnimalsPrefrontal cortexlcsh:QH301-705.5prefrontal cortexSex CharacteristicsBrainGeneral Medicinemedicine.diseaseMice Inbred C57BL030104 developmental biologymedicine.anatomical_structureGene Ontologylcsh:Biology (General)Autism spectrum disorderSchizophreniaProteomeSynapsesmass spectrometry-based proteomicsautism spectrum disorder (ASD)DDX3XFemaleNeuroscienceSET030217 neurology & neurosurgerySET ; cerebellum ; DDX3X ; striatum ; autism spectrum disorder (ASD) ; hippocampus ; synapse ; sex ; prefrontal cortexCells
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Tomato sauce enriched with olive oil exerts greater effects on cardiovascular disease risk factors than raw tomato and tomato sauce: a randomized tri…

2016

Epidemiological studies have observed a negative association between tomato intake and the incidence of cardiovascular disease. As tomato sauces are usually cooked with the addition of oil, some studies have pointed out that both processes may increase the bioavailability of the bioactive compounds. However, the effect of consumption of raw tomatoes and tomato sauces on inflammation biomarkers and adhesion molecules related to atherosclerosis remains unknown. The aim of this study was to test the postprandial effects of a single dose of raw tomatoes (RT), tomato sauce (TS) and tomato sauce with refined olive oil (TSOO) on cardiovascular disease risk factors. We performed an open, prospectiv…

0301 basic medicineMaleTime FactorsLymphocyteCD36postprandial030204 cardiovascular system & hematologytomatochemistry.chemical_compound0302 clinical medicineSolanum lycopersicumRisk FactorsTomàquetsFood scienceCookingProspective StudiesProspective cohort studyNutrition and DieteticsCross-Over Studiesbiologycardiovascularcookedfood and beveragesPostprandial PeriodLipidsInflamaciótomato; postprandial; cardiovascular; cooked; food matrix; bioavailabilityOli d'olivaPostprandialmedicine.anatomical_structureCardiovascular diseasesEstudi de casosCardiovascular DiseasesFemaleInflammation Mediatorslcsh:Nutrition. Foods and food supplyNutritive ValueAdultAdolescentlcsh:TX341-641Article03 medical and health sciencesYoung AdultTomatoesmedicineHumansSugarOlive OilInflammation030109 nutrition & dieteticsCholesterolbusiness.industryMalalties cardiovascularsProtective FactorsCrossover studyBioavailabilityDietchemistrySpainFruitbiology.proteinCase studiesbusinessEnergy IntakebioavailabilityCell Adhesion MoleculesBiomarkersfood matrixOlive oilFood Science
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Early Post-Transplant Torquetenovirus Viremia Predicts Cytomegalovirus Reactivations In Solid Organ Transplant Recipients.

2018

AbstractMonitoring the human virome has been recently suggested as a promising and novel area of research for identifying new biomarkers which would help physicians in the management of transplant patients. Imbalance of the immune system in transplant recipients has a significant impact on replication of Torquetenovirus (TTV), the most representative and abundant virus of human virome. TTV kinetic was studied by real-time PCR in 280 liver or kidney transplant recipients who underwent different drug regimens to maintain immunosuppression. During one-year post-transplant follow-up, TTV viremia fluctuated irrespective of transplanted organ type but consistent with the immunosuppression regimen…

0301 basic medicineMaleTime Factorsmedicine.medical_treatmentlcsh:MedicineCytomegalovirusVIROMEPostoperative ComplicationsANELLOVIRUSESlcsh:ScienceKidney transplantationTT VIRUSLUNG TRANSPLANTATIONDNA VIRUSAged 80 and overMultidisciplinaryIMMUNOSUPPRESSIONCMVvirus diseasesImmunosuppressionMiddle AgedViral LoadPrognosissurgical procedures operativeNEXT-GENERATIONCytomegalovirus InfectionsFemaleTORQUE TENO VIRUS; STEM-CELL TRANSPLANTATION; TT VIRUS; LUNG TRANSPLANTATION; NEXT-GENERATION; DNA VIRUS; IMMUNOSUPPRESSION; ANELLOVIRUSES; VIROME; HEPATITISViral loadAdult030106 microbiologyCongenital cytomegalovirus infectionTTVViremiaArticle03 medical and health sciencesHEPATITISYoung AdultmedicineHumansHuman viromeViremiaAgedImmunosuppression TherapyTorque teno virusbusiness.industrylcsh:RTTV; CMV; Transplant patientsSTEM-CELL TRANSPLANTATIONmedicine.diseaseKidney TransplantationTransplant RecipientsTransplantationRegimen030104 developmental biologyImmunologyTransplant patientslcsh:QVirus ActivationbusinessScientific reports
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Dopaminergic-GABAergic interplay and alcohol binge drinking

2019

© 2019 Elsevier Ltd The dopamine D 3 receptor (D 3 R), in the nucleus accumbens (NAc), plays an important role in alcohol reward mechanisms. The major neuronal type within the NAc is the GABAergic medium spiny neuron (MSN), whose activity is regulated by dopaminergic inputs. We previously reported that genetic deletion or pharmacological blockade of D 3 R increases GABA A α6 subunit in the ventral striatum. Here we tested the hypothesis that D 3 R-dependent changes in GABA A α6 subunit in the NAc affect voluntary alcohol intake, by influencing the inhibitory transmission of MSNs. We performed in vivo and ex vivo experiments in D 3 R knockout (D 3 R −/− ) mice and wild type littermates (D 3 …

0301 basic medicineMalemedicine.medical_specialtyDopaminergic-GABAergicSettore BIO/09 - FISIOLOGIAAlpha6 subunit; Dopamine D3 receptor; Ethanol; Furosemide (PubChem CID: 3440); GABA(A)receptor; Nucleus accumbens; Ro 15-4513; Ro 15-4513 (PubChem CID: 5081); SB 277011A (PubChem CID: 75358288)Alpha6 subunitNucleus accumbensMedium spiny neuronInhibitory postsynaptic potentialNucleus AccumbensBinge Drinking03 medical and health sciencesMiceDopamine D3 receptor0302 clinical medicineDopamine receptor D3Internal medicinemedicineAnimalsFurosemide (PubChem CID: 3440)Nucleus accumbenPharmacology & PharmacyRNA MessengerRo 15-4513GABAergic NeuronsSB 277011A (PubChem CID: 75358288).PharmacologyMice KnockoutEthanolGABAA receptorChemistryDopaminergicAntagonistReceptors Dopamine D3Receptors GABA-ARo 15-4513 (PubChem CID: 5081)GABA(A)receptor3. Good healthProtein Subunits030104 developmental biologyEndocrinologynervous systemGene Expression Regulation030220 oncology & carcinogenesisGABAergicNucleus accumbensSB 277011A (PubChem CID: 75358288)
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Neuronal Excitability And Spontaneous Synaptic Transmission In The Entorhinal Cortex Of Bdnf Heterozygous Mice

2018

Abstract Brain Derived Neurotropic Factor (BDNF) is a neutrophic factor that is required for the normal neuronal development and function. BDNF is involved in regulation of synapses as well as neuronal excitability. Entorhinal Cortex (EC) is a key brain area involved in many physiological and pathological processes. In this study we investigated the effects of chronically reduced BDNF levels on layer 3 pyramidal neurons of EC. We aimed to assess the effects of reduced levels of BDNF on firing properties, spontaneous synaptic currents and excitation/inhibition balance from acute brain slices. Patch clamp recordings were obtained from pyramidal neurons of Entorhinal Cortex Layer 3. Findings o…

0301 basic medicineMalemedicine.medical_specialtyHeterozygoteAction potentialAction PotentialsNeurotransmissionInhibitory postsynaptic potentialSynaptic Transmission03 medical and health sciencesMice0302 clinical medicineInternal medicinemedicinePremovement neuronal activityAnimalsEntorhinal CortexPatch clampChemistryGeneral NeuroscienceSpontaneous synaptic transmissionBrain-Derived Neurotrophic FactorExcitatory Postsynaptic PotentialsEntorhinal cortex030104 developmental biologyEndocrinologyInhibitory Postsynaptic Potentialsnervous systemGene Knockdown TechniquesExcitatory postsynaptic potentialFemale030217 neurology & neurosurgery
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Interhemispheric inhibition is dynamically regulated during action observation

2016

International audience; It is now well established that the motor system plays a pivotal role in action observation and that the neurophysiological processes underlying perception and action overlaps. However, while various experiments have shown a specific facilitation of the contralateral motor cortex during action observation, no information is available concerning the dynamics of interhemispheric interactions. The aim of the present study was, therefore, to assess interhemispheric inhibition during the observation of others' actions. We designed a transcranial magnetic stimulation (TMS) experiment in which we measured both corticospinal excitability and interhemispheric inhibition, this…

0301 basic medicineMalemedicine.medical_treatmentcorpus-callosumPyramidal TractsCorticospinal excitabilitFunctional Laterality0302 clinical medicinehuman motor cortextranscallosal inhibitionInterhemispheric inhibitiontranscranial magnetic stimulationAction observation Corticospinal excitabilit; Interhemispheric inhibition Movement kinematics Transcranial magnetic stimulation Adult Evoked Potentials Motor Female Functional Laterality Hand Strength Humans Male Motor Cortex Movement Muscle Skeletal Pyramidal Tracts Rest Transcranial Magnetic Stimulation Young Adult Neuropsychology and Physiological Psychology Experimental and Cognitive Psychology Cognitive NeuroscienceEvoked Potentialsvoluntary movementHand StrengthMotor CortexAction observationSkeletalCorticospinal excitabilitymedicine.anatomical_structureNeuropsychology and Physiological PsychologyMotormultiple-sclerosiscortical areasMuscleFemalePsychologyMotor cortexAdultCognitive NeuroscienceMovementRestipsilateral silent periodExperimental and Cognitive PsychologyInhibitory postsynaptic potential03 medical and health sciencesYoung AdultMotor systemmedicineHumansMuscle SkeletalPyramidal tractsNeurophysiologyEvoked Potentials MotorTranscranial magnetic stimulation030104 developmental biologyAction (philosophy)[ SDV.NEU ] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Silent periodMovement kinematicsNeuroscienceintracortical circuits030217 neurology & neurosurgery
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