0000000001125904

AUTHOR

S. Ibrahim

showing 5 related works from this author

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

2019

See Karakaya and Wirth (doi:10.1093/brain/awz273) for a scientific commentary on this article. Neurofascin (NFASC) isoforms are immunoglobulin cell adhesion molecules involved in node of Ranvier assembly. Efthymiou et al. identify biallelic NFASC variants in ten unrelated patients with a neurodevelopmental disorder characterized by variable degrees of central and peripheral involvement. Abnormal expression of Nfasc155 is accompanied by severe loss of myelinated fibres.

Male[SDV]Life Sciences [q-bio][SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/NeurobiologyNerve Fibers MyelinatedGene FrequencyNeurodevelopmental Disorder[SDV.BC.IC]Life Sciences [q-bio]/Cellular Biology/Cell Behavior [q-bio.CB]Nerve Growth FactorProtein IsoformsChildComputingMilieux_MISCELLANEOUSMyelin Sheathneurofascin; neurodevelopment; peripheral demyelinationAlleleneurodevelopmentDemyelinating DiseaseGenomicsneurodevelopment neurofascin peripheral demyelinationSettore MED/39 - Neuropsichiatria InfantilePedigree[SDV.IMM.IA]Life Sciences [q-bio]/Immunology/Adaptive immunologyChild PreschoolPeripheral Nerve[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Femaleneurodevelopment; neurofascin; peripheral demyelinationNeurogliaHumanAdultAdolescentNervous System MalformationsGuillain-Barre SyndromeAxonNervous System MalformationneurofascinRanvier's NodesHumansNerve Growth FactorsPeripheral NervesAllelesAutoantibodiesperipheral demyelinationInfantProtein IsoformOriginal ArticlesAxonsnervous systemNeurodevelopmental DisordersCell Adhesion MoleculeMutationCell Adhesion MoleculesDemyelinating Diseases
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Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants

2020

Mice lacking GAD1 show neonatal mortality, but the human phenotype associated with GAD1 disruption is poorly characterized. Neuray et al. describe six patients with biallelic GAD1 mutations, presenting with early-infantile onset epilepsy, neurodevelopmental delay, muscle weakness and non-CNS manifestations.

Male0301 basic medicineGlutamate decarboxylaseMalalties cerebralsNeurotransmissorsNeurodevelopmental delayEpilepsy0302 clinical medicineMESH: ChildAge of OnsetChildcleft palateGAD1AcademicSubjects/SCI01870Glutamate DecarboxylaseGlutamate receptorMuscle weakness//purl.org/becyt/ford/3.1 [https]NeurotransmittersMESH: InfantHypotoniamuscle weakneCleft palateMESH: EpilepsyChild PreschoolMuscle Hypotonia[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]//purl.org/becyt/ford/3 [https]FemaleBrain diseasesAbnormalitiesmedicine.symptomMultiplemedicine.drugcleft palate; epilepsy; GAD1; muscle weakness; neurodevelopmental delayMESH: Glutamate Decarboxylasemedicine.medical_specialtyMESH: Abnormalities MultipleMESH: MutationMESH: Age of OnsetBiologyInhibitory postsynaptic potentialGAD1 cleft palate epilepsy muscle weakness neurodevelopmental delay.gamma-Aminobutyric acidGAD1neurodevelopmental delay03 medical and health sciencesExcitatory synapseInternal medicinemedicineHumansAbnormalities MultiplePreschoolAllelesMESH: Neurodevelopmental Disordersmuscle weaknessMESH: HumansEpilepsyMESH: Muscle HypotoniaMESH: AllelesMESH: Child PreschoolInfantmedicine.diseaseMESH: MaleEpilèpsiaEditor's Choice030104 developmental biologyEndocrinologyNeurodevelopmental DisordersMutationepilepsyAcademicSubjects/MED00310Neurology (clinical)Cleft palate; Epilepsy; GAD1; Muscle weakness; Neurodevelopmental delay; Abnormalities Multiple; Age of Onset; Alleles; Child; Child Preschool; Epilepsy; Female; Glutamate Decarboxylase; Humans; Infant; Male; Muscle Hypotonia; Mutation; Neurodevelopmental DisordersMESH: Female[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology030217 neurology & neurosurgeryReports
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SARS-CoV-2 vaccination modelling for safe surgery to save lives: data from an international prospective cohort study

2021

Abstract Background Preoperative SARS-CoV-2 vaccination could support safer elective surgery. Vaccine numbers are limited so this study aimed to inform their prioritization by modelling. Methods The primary outcome was the number needed to vaccinate (NNV) to prevent one COVID-19-related death in 1 year. NNVs were based on postoperative SARS-CoV-2 rates and mortality in an international cohort study (surgical patients), and community SARS-CoV-2 incidence and case fatality data (general population). NNV estimates were stratified by age (18–49, 50–69, 70 or more years) and type of surgery. Best- and worst-case scenarios were used to describe uncertainty. Results NNVs were more favourable in su…

MaleCOVID-19 Vaccinesafe surgery; vaccination modelling; COVID-19Vascular damage Radboud Institute for Health Sciences [Radboudumc 16]MULTICENTERComorbidity030230 surgery0302 clinical medicinephase 3 clinical trial (topic)Case fatality rateProspective StudiesSARS-CoV-2 Vaccination Safe surgeryCOVID-19/epidemiologySARS-CoV-2 ; vaccination ; safe surgeryeducation.field_of_studycase fatality rateVaccinationVaccinationAdolescent; Adult; Aged; COVID-19; COVID-19 Vaccines; Comorbidity; Elective Surgical Procedures; Female; Humans; Male; Middle Aged; Postoperative Complications; Preoperative Period; Prospective Studies; SARS-CoV-2; Vaccination; Young Adulthealth care policyElective Surgical Procedures030220 oncology & carcinogenesisvaccination modellingPreoperative PeriodCOVID-19; SARS-CoV-2; cancer; vaccination; outcome; mortality; infection; modellingCohort studyprospective studyHumanmedicine.medical_specialtyArticle03 medical and health sciencesSARS-CoV-2 vaccinationSDG 3 - Good Health and Well-beingCOVID-19 Vaccines/pharmacologyHumansVaccination/methodsElective surgeryeducationAgedScience & TechnologyElective Surgical Procedureadult; aged; Article; cancer grading; cancer surgery; case fatality rate; computer assisted tomography; elective surgery; female; follow up; health care policy; human; incidence; infection rate; infection risk; major clinical study; male; middle aged; mortality; outcome assessment; phase 3 clinical trial (topic); preoperative care; prospective study; sensitivity analysis; seroprevalence; Severe acute respiratory syndrome coronavirus 2; vaccination; young adult; COVID-19; COVID-19 Vaccines; Comorbidity; Elective Surgical Procedures; Postoperative Complications; Preoperative Period; SARS-CoV-2; Vaccination; surgery.Cura preoperatòriamajor clinical studymortalityinfectionProspective StudieincidenceSurgeryHuman medicinePostoperative Complication610 Medizin und GesundheitAcademicSubjects/MED00910Settore MED/18 - CHIRURGIA GENERALESettore MED/29 - CHIRURGIA MAXILLOFACCIALEcomputer assisted tomographyESTUDOS PROSPECTIVOSsurgerysafe surgeryPostoperative Complicationssensitivity analysisSevere acute respiratory syndrome coronavirus 2preoperative careVacunacióProspective cohort studyseroprevalenceIncidence (epidemiology)covidElective Surgical Procedures/methodsMiddle Agedcancer gradingCOVID vaccinationoutcome/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingSARS-CoV-2; vaccination; surgeryOriginal ArticleFemalecancer surgeryAcademicSubjects/MED00010Life Sciences & BiomedicineAdultCOVID-19 VaccinesAdolescentinternational prospective cohort studyPostoperative Complications/prevention & controlPopulationinfection rateSARS-CoV-2/immunologyNOmodellingYoung Adultmedicinefollow upcancerddc:610infection riskoutcome assessmentLS7_4business.industrySARS-CoV-2Number needed to vaccinatePreoperative careCOVID-193126 Surgery anesthesiology intensive care radiologySettore MED/18Reconstructive and regenerative medicine Radboud Institute for Health Sciences [Radboudumc 10]elective surgeryEmergency medicinebusiness[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyThe British Journal of Surgery
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Early outcomes and complications following cardiac surgery in patients testing positive for coronavirus disease 2019: An international cohort study

2021

The outbreak of severe acute respiratory syndromecoronavirus-2, the cause of coronavirus disease 2019 (COVID-19) in December 2019 represented a global emergency accounting for more than 2.5 million deaths worldwide.1 It has had an unprecedented influence on cardiac surgery internationally, resulting in cautious delivery of surgery and restructuring of services.2 Understanding the influence of COVID-19 on patients after cardiac surgery is based on assumptions from other surgical specialties and single-center studies. The COVIDSurg Collaborative conducted a multicenter cohort study, including 1128 patients, across 235 hospitals, from 24 countries demonstrating perioperative COVID-19 infection…

Pulmonary and Respiratory MedicineMale2019-20 coronavirus outbreakmedicine.medical_specialtyCoronavirus disease 2019 (COVID-19)Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)complication.ArticleNOCohort Studiesoutcomes; complications; following cardiac surgery; coronavirus disease 2019Postoperative ComplicationsCardiovascular Diseases; Cohort Studies; Female; Humans; Male; Middle Aged; SARS-CoV-2; COVID-19; Cardiac Surgical Procedures; Postoperative ComplicationsInternal medicineCardiovascular DiseasemedicineCardiac Surgical ProcedureHumansIn patientCardiac Surgical ProceduresLS7_4business.industrySARS-CoV-2COVID-19Middle AgedCardiac surgeryCardiovascular DiseasesoutcomeSurgeryFemaleCohort StudieCardiology and Cardiovascular Medicinebusinesscardiac surgery[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyCohort studyHuman
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Machine learning risk prediction of mortality for patients undergoing surgery with perioperative SARS-CoV-2: the COVIDSurg mortality score

2021

The British journal of surgery 108(11), 1274-1292 (2021). doi:10.1093/bjs/znab183

Cuidado perioperatorioAcademicSubjects/MED00910Settore MED/18 - CHIRURGIA GENERALEMedizinpulmonary complicationspreoperative screeningDatasets as TopicSurgical Procedures Operative/mortality030230 surgeryperioperative care ; surgical procedures ; operative mortality ; machine learning ; sars-cov-2Medical and Health SciencesProcediments quirúrgicsCohort StudiesMachine LearningTumours of the digestive tract Radboud Institute for Health Sciences [Radboudumc 14]0302 clinical medicineModelsProcedimientos quirúrgicosMedicine and Health SciencesCOVIDSurg Collaborative Co-authorsMedicine030212 general & internal medicineskin and connective tissue diseasesRapid Research Communication11 Medical and Health SciencesOperative/mortalitySARS-CoV-19COVID-19/mortalityStatisticalCOVID-19/mortality; Cohort Studies; Datasets as Topic; Humans; Machine Learning; Models Statistical; Risk Assessment; SARS-CoV-2; Surgical Procedures Operative/mortalityCOVID-19; Cohort Studies; Datasets as Topic; Humans; Machine Learning; SARS-CoV-2; Surgical Procedures Operative; Models Statistical; Risk AssessmentAprendizaje automáticoOperativeSurgical Procedures OperativeoutcomeOperativo[SDV.IB]Life Sciences [q-bio]/BioengineeringPatient SafetyAcademicSubjects/MED000106.4 SurgeryLife Sciences & BiomedicineHuman61medicine.medical_specialty616.9Coronavirus disease 2019 (COVID-19)Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-.Risk AssessmentNOCOVIDSurg CollaborativeVaccine Related03 medical and health sciencesClinical ResearchBiodefenseCures perioperatòriesAprenentatge automàticMortalitatHumansOperatiusLS7_4Surgical ProceduresScience & TechnologyModels Statisticalbusiness.industrySARS-CoV-2SARS-CoV-2 infectionKirurgiPreventionnot indicatedcovid 19fungiEvaluation of treatments and therapeutic interventionsCOVID-19Perioperativecovid 19; pulmonary complications; postoperative mortality risk; SARS-CoV-2 infection; preoperative screening; vaccinationvaccinationmortalityGood Health and Well BeingMortalidadEmergency medicineSurgeryHuman medicineCohort Studiebusinesspostoperative mortality riskPerioperative care
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