0000000000598592

AUTHOR

Daniel Duarte

showing 2 related works from this author

Characterization of the Clinical and Immunologic Phenotype and Management of 157 Individuals with 56 Distinct Heterozygous NFKB1 Mutations

2020

Contains fulltext : 229571.pdf (Publisher’s version ) (Closed access) BACKGROUND: An increasing number of NFKB1 variants are being identified in patients with heterogeneous immunologic phenotypes. OBJECTIVE: To characterize the clinical and cellular phenotype as well as the management of patients with heterozygous NFKB1 mutations. METHODS: In a worldwide collaborative effort, we evaluated 231 individuals harboring 105 distinct heterozygous NFKB1 variants. To provide evidence for pathogenicity, each variant was assessed in silico; in addition, 32 variants were assessed by functional in vitro testing of nuclear factor of kappa light polypeptide gene enhancer in B cells (NF-κB) signaling. RESU…

0301 basic medicineMaleNF-KAPPA-BMedizinlnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4]Fluorescent Antibody TechniqueAutoimmunityDiseaseNUCLEAR-FACTORKaplan-Meier Estimatemedicine.disease_causeHypogammaglobulinemia0302 clinical medicineNFKB1 variants and mutations; autosomal dominant inheritance; common variable immunodeficiency; reduced penetrance; variable expressivityHDE PEDImmunology and Allergyvariants and mutationsNF-κB1-related phenotypeImmunodeficiencyIMMUNODEFICIENCY*NF-?B1-related phenotypeNFKB1 variants and mutations1184 Genetics developmental biology physiologycommon variable immunodeficiencyDisease ManagementMiddle AgedNF-kappa B1-related phenotypereduced penetrancePrognosisPenetranceImmunohistochemistryMagnetic Resonance Imaging3. Good healthPhenotypeNFKB1 variant*NFKB1 variant*common variable immunodeficiencyFemaleHaploinsufficiency*reduced penetranceNFKB1 mutationAdultHeterozygote*NFKB1 mutationImmunologyHAPLOINSUFFICIENCYArticle03 medical and health sciencesvariable expressivityautosomal dominantmedicineHumansGenetic Predisposition to DiseaseGenetic Association StudiesAgedbusiness.industryCommon variable immunodeficiencyNF-kappa B p50 SubunitNF-KAPPA-B1Immune dysregulationmedicine.diseaseautosomal dominant inheritance030104 developmental biologyBiological Variation PopulationImmunologyCELLSMutation*autosomal dominantPrimary immunodeficiency3111 BiomedicinebusinessTomography X-Ray ComputedBiomarkers030215 immunology
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Evolution Over Time of Ventilatory Management and Outcome of Patients With Neurologic Disease

2021

OBJECTIVES: To describe the changes in ventilator management over time in patients with neurologic disease at ICU admission and to estimate factors associated with 28-day hospital mortality. DESIGN: Secondary analysis of three prospective, observational, multicenter studies. SETTING: Cohort studies conducted in 2004, 2010, and 2016. PATIENTS: Adult patients who received mechanical ventilation for more than 12 hours. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: Among the 20,929 patients enrolled, we included 4,152 (20%) mechanically ventilated patients due to different neurologic diseases. Hemorrhagic stroke and brain trauma were the most common pathologies associated with the need fo…

Malemedicine.medical_treatmentpulmonary complicationsRESPIRATORY-DISTRESS-SYNDROMECritical Care and Intensive Care MedicineCASE-FATALITY0302 clinical medicineRisk FactorsBrain Injuries TraumaticMulticenter Studies as TopicHospital MortalityProspective StudiesSimplified Acute Physiology ScoreStrokePOPULATIONSimplified Acute Physiology ScoreAge FactorsANEURYSMAL SUBARACHNOID HEMORRHAGEMiddle AgedHemorrhagic StrokeIntensive Care UnitsObservational Studies as TopicAnesthesiaBreathingFemalemedicine.symptomVentilator WeaningCohort studyAdultTRAUMATIC BRAIN-INJURYPressure support ventilationmechanical ventilationprognosis factorsACUTE LUNG INJURY03 medical and health sciencesmedicineHumansAgedIschemic StrokeMechanical ventilationNoninvasive Ventilationbusiness.industryMORTALITYneurologic patientsOrgan dysfunction030208 emergency & critical care medicineLength of Staymedicine.diseaseTRENDSRespiration Artificial030228 respiratory systemEtiologyNEUROCRITICAL CARENervous System DiseasesTracheotomybusinessCritical Care Medicine
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