Search results for "Ceph"

showing 10 items of 2036 documents

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

2016

International audience; The increasing use of array-CGH in malformation syndromes with intellectual disability could lead to the description of new contiguous gene syndrome by the analysis of the gene content of the microdeletion and reverse phenotyping. Thanks to a national and international call for collaboration by Achropuce and Decipher, we recruited four patients carrying de novo overlapping deletions of chromosome 9q33.3q34.11, including the STXBP1, the LMX1B and the ENG genes. We restrained the selection to these three genes because the effects of their haploinsufficency are well described in the literature and easily recognizable clinically. All deletions were detected by array-CGH …

0301 basic medicineMale[ SDV.MHEP.PED ] Life Sciences [q-bio]/Human health and pathology/PediatricsHaploinsufficiencycerebral hypomyelinationwest-syndromeBioinformaticsCraniofacial Abnormalities0302 clinical medicineIntellectual disabilitySTXBP1ChildGenetics (clinical)Nail patella syndromeGeneticsEndoglinSyndrome3. Good healthdevelopmental delayPhenotypeintellectual disabilityMedical geneticsFemaleChromosome DeletionHaploinsufficiencyChromosomes Human Pair 9medicine.medical_specialtyAdolescentLIM-Homeodomain ProteinsBiologyContiguous gene syndromeArticle03 medical and health sciencesMunc18 ProteinsGenetic linkageGeneticsmedicineHumansde-novo mutations[SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/PediatricsdiseaseEpilepsyinfantile epileptic encephalopathyassociationdeletionsmedicine.diseaseHuman genetics030104 developmental biologynail-patella syndrome030217 neurology & neurosurgeryTranscription Factors
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The neuroanatomy of Eml1 knockout mice, a model of subcortical heterotopia

2018

Symposium issue: Human Cortex Developmentidentifiant wos: 000482426800014; International audience; The cerebral cortex is a highly organized structure responsible for advanced cognitive functions. Its development relies on a series of steps including neural progenitor cell proliferation, neuronal migration, axonal outgrowth and brain wiring. Disruption of these steps leads to cortical malformations, often associated with intellectual disability and epilepsy. We have generated a new resource to shed further light on subcortical heterotopia, a malformation characterized by abnormal neuronal position. We describe here the generation and characterization of a knockout (KO) mouse model for Eml1,…

0301 basic medicineMale[SDV.MHEP.AHA] Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO]heterotopiaHistology[SDV.BA] Life Sciences [q-bio]/Animal biologyClassical Lissencephalies and Subcortical Band HeterotopiasBiologyCorpus callosum03 medical and health sciences0302 clinical medicinemedicine[SDV.MHEP.AHA]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO]Animals[SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Progenitor cellMolecular BiologyEcology Evolution Behavior and SystematicsMice Knockout[SDV.BA]Life Sciences [q-bio]/Animal biologyBrainHeterozygote advantageCell BiologyOriginal Articlesmouse model of developmental disordersmedicine.diseasecortical malformationsCorticogenesisDisease Models Animal030104 developmental biologymedicine.anatomical_structureHeterotopia (medicine)Cerebral cortexKnockout mouseFemale[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]AnatomyNeuroscienceMicrotubule-Associated Proteins030217 neurology & neurosurgeryDevelopmental BiologyNeuroanatomy
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Hyperammonemia alters the mismatch negativity in the auditory evoked potential by altering functional connectivity and neurotransmission

2020

Minimal hepatic encephalopathy (MHE) is a neuropsychiatric syndrome produced by central nervous system dysfunction subsequent to liver disease. Hyperammonemia and inflammation act synergistically to alter neurotransmission, leading to the cognitive and motor alterations in MHE, which are reproduced in rat models of chronic hyperammonemia. Patients with MHE show altered functional connectivity in different neural networks and a reduced response in the cognitive potential mismatch negativity (MMN), which correlates with attention deficits. The mechanisms by which MMN is altered in MHE remain unknown. The objectives of this work are as follows: To assess if rats with chronic hyperammonemia rep…

0301 basic medicineMalehippocampusPopulationMismatch negativityNeurotransmissionStimulus (physiology)Auditory cortexBiochemistrySynaptic Transmissionbehavioral disciplines and activitiesmetabolic diseases03 medical and health sciencesCellular and Molecular Neuroscience0302 clinical medicineNeural PathwaysmedicineAnimalsHyperammonemiaEvoked potentialRats Wistareducationeducation.field_of_studybusiness.industryGlutamate receptorBrainHyperammonemiamedicine.diseaseencephalopathyRats030104 developmental biologyHepatic EncephalopathyEvoked Potentials AuditorybusinessNeuroscience030217 neurology & neurosurgerypsychological phenomena and processes
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GABA-containing compound gammapyrone protects against brain impairments in Alzheimer's disease model male rats and prevents mitochondrial dysfunction…

2018

Neuroinflammation, oxidative stress, decreased glucose/energy metabolism, and disrupted neurotransmission are changes that occur early in sporadic Alzheimer's disease (AD), manifesting as mild cognitive impairment. Recently, the imbalanced function of the gamma-aminobutyric acid (GABA) system was identified as a critical factor in AD progression. Thus, maintaining balance among neurotransmitter systems, particularly the GABA system, can be considered a beneficial strategy to slow AD progression. The present study investigated the effects of the compound gammapyrone, a molecule containing three GABA moieties: "free" moiety attached to the position 4 of the 1,4-dihydropyridine (DHP) ring, and…

0301 basic medicineMalemedicine.medical_specialtyAllosteric regulationbioenergetics; GABA; intracerebroventricular streptozocin; PC12 cells; protein expression; spatial learning/memoryNeurotransmissionspatial learning/memorymedicine.disease_causebioenergeticsNeuroprotection03 medical and health sciencesCellular and Molecular NeuroscienceGABA0302 clinical medicineReceptors GABAAlzheimer DiseaseMemoryInternal medicinemedicineAnimalsRats WistarReceptorMaze Learningprotein expressionNeuroinflammationCells Culturedgamma-Aminobutyric AcidGABAA receptorChemistryGlutamate DecarboxylasePC12 cellsBrainintracerebroventricular streptozocinMitochondriaStreptozocinDisease Models Animal030104 developmental biologyEndocrinologyNeuroprotective AgentsAstrocytesAcetylcholinesteraseEncephalitisMicroglia030217 neurology & neurosurgeryOxidative stressJournal of neuroscience research
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Glucagon-like peptide-2 reduces the obesity-associated inflammation in the brain.

2018

Growing evidence suggests a link between obesity and neurodegeneration. The purpose of the present study was to explore the neuroprotective potential of glucagon-like peptide-2 (GLP-2) in the brain of high fat diet (HFD)-fed mice. Markers of inflammation and oxidative stress were analysed in the brains of obese mice chronically treated with [Gly2]-GLP-2 (teduglutide), the stable analogue of the GLP-2, and they were compared to age-matched untreated obese and lean animals. Neurodegeneration was examined by TUNEL assay. HFD feeding increased the expression of pro-inflammatory mediators (NF-kB, IL-8, TNF-α, IL-1β and IL-6), glial fibrillary acidic protein (GFAP), index of gliosis and neurodege…

0301 basic medicineMalemedicine.medical_specialtyInflammationmedicine.disease_causeDiet High-FatSettore BIO/09 - FisiologiaNeuroprotectionlcsh:RC321-57103 medical and health sciences0302 clinical medicineNeuroinflammationInternal medicinemedicineGlucagon-Like Peptide 2AnimalsObesityNeurodegenerationlcsh:Neurosciences. Biological psychiatry. NeuropsychiatryNeuroinflammationTUNEL assayGlial fibrillary acidic proteinbiologyChemistryNeurodegenerationdigestive oral and skin physiologyBrainmedicine.diseaseMice Inbred C57BL030104 developmental biologyEndocrinologyNeuroprotective AgentsNeurologyGliosisOxidative stressAstrocytesbiology.proteinGlucagon-Like Peptide-2 ReceptorOxidative streEncephalitismedicine.symptomInflammation MediatorsGLP-2030217 neurology & neurosurgeryOxidative stresshormones hormone substitutes and hormone antagonistsNeurobiology of disease
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Wernicke-Korsakoff syndrome complicated by subacute beriberi neuropathy in an alcoholic patient.

2017

Thiamine (vitamin B1) deficiency is a common condition in alcohol abusers, which can lead to damage of both the peripheral and the central nervous systems. Here we describe the case of an alcoholic patient who presented with acute onset of ataxia, severe weakness of the four limbs, and hypoesthesia and dysesthesia of the distal portion of the upper and lower extremities. The clinical picture also included mental confusion and amnesia. A diagnosis of Wernicke-Korsakoff syndrome was made based on clinical symptoms and brain RMI findings. Electromyography and electroneurography revealed signs of subacute axonal sensory-motor polyneuropathy that were compatible with a rare acute presentation of…

0301 basic medicineMalemedicine.medical_specialtyPediatricsAtaxiaBeriberiWernicke's encephalopathyAlcoholic NeuropathyBeriberi03 medical and health sciences0302 clinical medicinemedicineHumansKorsakoff's syndromeWernicke's encephalopathy030109 nutrition & dieteticsWernicke–Korsakoff syndromeDysesthesiabusiness.industryfood and beveragesGeneral MedicineMiddle Agedmedicine.diseaseSurgeryAlcoholismKorsakoff SyndromeThiamine deficiencyVitamin B ComplexThiamineSurgeryNeurology (clinical)medicine.symptombusinessKorsakoff's syndromePolyneuropathy030217 neurology & neurosurgeryVitamin B1Clinical neurology and neurosurgery
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Left hemisphere enhancement of auditory activation in language impaired children

2019

| openaire: EC/H2020/641652/EU//ChildBrain Specific language impairment (SLI) is a developmental disorder linked to deficient auditory processing. In this magnetoencephalography (MEG) study we investigated a specific prolonged auditory response (N250m) that has been reported predominantly in children and is associated with level of language skills. We recorded auditory responses evoked by sine-wave tones presented alternately to the right and left ear of 9–10-year-old children with SLI (n = 10) and children with typical language development (n = 10). Source analysis was used to isolate the N250m response in the left and right hemisphere. In children with language impairment left-hemisphere …

0301 basic medicineMaleneurofysiologialcsh:MedicineSpecific language impairmentAudiologyBrain mapping3124 Neurology and psychiatryActivation pattern0302 clinical medicinesensory processinglcsh:Science10. No inequalityChildspecific language impartmentpathophysiologyBrain MappingMultidisciplinarymedicine.diagnostic_testBrainkuuloLanguage developmentAuditory PerceptionEvoked Potentials AuditorySensory processingFemalePsychologyAuditory perceptionauditory responsemedicine.medical_specialtyauditory evoked potentialModels Neurologicaldevelopmental language disorderNeurophysiologyLateralization of brain functionArticle03 medical and health sciencesmedicineHumansLanguage Development Disordershumankielellinen erityisvaikeuslcsh:RMagnetoencephalographybiological modelmedicine.diseaseDevelopmental disorder030104 developmental biologyhearinglcsh:Q030217 neurology & neurosurgeryScientific Reports
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Ebola Virus Disease Complicated by Late-Onset Encephalitis and Polyarthritis, Sierra Leone

2016

To the Editor: Ebola virus (EBOV) disease is usually an acute illness, but increasing evidence exists of persistent infections and post-Ebola syndromes. We report a case of EBOV encephalitis.

0301 basic medicineMicrobiology (medical)LetterEpidemiologyExpeditedencephalitisviruseslcsh:MedicineEbola virus diseaseLate onsetDiseasemedicine.disease_causepolyarthritislcsh:Infectious and parasitic diseasesSierra LeoneSierra leoneviral persistenceAcute illnessEbola Virus Disease Complicated by Late-Onset Encephalitis and Polyarthritis Sierra LeoneEbola virus03 medical and health sciences0302 clinical medicinemedicinelcsh:RC109-216viruses030212 general & internal medicineLetters to the EditorEbola virusbusiness.industrylcsh:Rvirus diseasesmedicine.diseaseVirology030104 developmental biologyInfectious DiseasesImmunologyPolyarthritisViral persistencebusinessEncephalitisEmerging Infectious Diseases
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Advances in Developing Therapies to Combat Zika Virus: Current Knowledge and Future Perspectives

2017

Zika virus (ZIKV) remained largely quiescent for nearly six decades after its first appearance in 1947. ZIKV reappeared after 2007, resulting in a declaration of an international “public health emergency” in 2016 by the World Health Organization (WHO). Until this time, ZIKV was considered to induce only mild illness, but it has now been established as the cause of severe clinical manifestations, including fetal anomalies, neurological problems, and autoimmune disorders. Infection during pregnancy can cause congenital brain abnormalities, including microcephaly and neurological degeneration, and in other cases, Guillain-Barré syndrome, making infections with ZIKV a substantial public health …

0301 basic medicineMicrobiology (medical)Microcephalymedicine.medical_specialty030106 microbiologylcsh:QR1-502therapiesReviewDiseaseMicrobiologylcsh:MicrobiologydrugsWorld healthZika virusZika virus03 medical and health sciencesViral entrymedicinemicrocephalybiologyGuillain-Barre syndromebusiness.industryPublic healthGuillain-Barré Syndromebiology.organism_classificationmedicine.diseasePathogenicityVirology030104 developmental biologybusinessFrontiers in Microbiology
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Performance of disc diffusion, MIC gradient tests and Vitek 2 for ceftolozane/tazobactam and ceftazidime/avibactam susceptibility testing of Pseudomo…

2021

AbstractObjectivesTo assess performance of disc diffusion, gradient tests and Vitek 2 system to determine the susceptibility of clinical Pseudomonas aeruginosa strains to ceftolozane/tazobactam (C/T) and ceftazidime/avibactam (CZA).MethodsTwo-hundred non-duplicate P. aeruginosa strains isolated by 47 French medical laboratories were selected to cover a wide range of C/T and CZA MICs. Performance of C/T disc (30/10 μg, Bio-Rad), CZA discs (10/4 μg) (Thermo Fisher and Bio-Rad), C/T and CZA gradient tests (Etest, BioMérieux; MIC Test Strip, Liofilchem), and AST-XN12 card of Vitek 2 system (BioMérieux) were compared with a broth microdilution (BMD) method (Thermo Fisher). MIC and disc results w…

0301 basic medicineMicrobiology (medical)TazobactamAvibactam030106 microbiologyCeftazidimeMicrobial Sensitivity Testsmedicine.disease_causeTazobactamCeftazidime03 medical and health scienceschemistry.chemical_compound0302 clinical medicinemedicineHumansPharmacology (medical)Pseudomonas Infections030212 general & internal medicineEtestPharmacologyChromatographyPseudomonas aeruginosaChemistryBroth microdilutionCeftazidime/avibactamAnti-Bacterial AgentsCephalosporinsDrug CombinationsInfectious Diseases[SDV.MP]Life Sciences [q-bio]/Microbiology and ParasitologyPseudomonas aeruginosaCeftolozaneAzabicyclo Compoundsmedicine.drug
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