0000000000422465

AUTHOR

Thomas M

showing 4 related works from this author

Structural mapping of GABRB3 variants reveals genotype-phenotype correlations

2021

AbstractPurposePathogenic variants in GABRB3 have been associated with a spectrum of phenotypes from severe developmental disorders and epileptic encephalopathies to milder epilepsy syndromes and mild intellectual disability. In the present study, we analyzed a large cohort of individuals with GABRB3 variants to deepen the phenotypic understanding and investigate genotype-phenotype correlations.MethodsThrough an international collaboration, we analyzed electro-clinical data of unpublished individuals with variants in GABRB3 and we reviewed previously published cases. All missense variants were mapped onto the 3D structure of the GABRB3 subunit and clinical phenotypes associated with the dif…

GeneticsEpilepsyGenetic counselingEpilepsy syndromesIntellectual disabilityGenotypemedicineMissense mutationBiologyGeneralized epilepsymedicine.diseasePhenotype
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Spontaneous Breathing in Early Acute Respiratory Distress Syndrome

2019

Supplemental Digital Content is available in the text.

MaleRespiratory ratemedicine.medical_treatmentlnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4]Clinical InvestigationsRespiration Artificial/methodsmechanical ventilationCritical Care and Intensive Care MedicineNOPositive-Pressure Respiration03 medical and health sciences0302 clinical medicineacute respiratory distress syndrome controlled mechanical ventilation spontaneous breathing supported ventilationRespiratory RatemedicineHumansProspective StudiesProspective cohort studyArtificial/methodsMechanical ventilationRespiratory Distress Syndromebusiness.industryRespirationConfounding030208 emergency & critical care medicineOdds ratioTidal Wavesacute respiratory distress syndromeMiddle AgedRespiration Artificial3. Good healthcontrolled mechanical ventilationTreatment Outcome030228 respiratory systemAnesthesiasupported ventilationBreathingComputingMethodologies_DOCUMENTANDTEXTPROCESSINGspontaneous breathingRespiratory Distress Syndrome Adult/physiopathologyObservational studyARDSFemaleAdult/physiopathologybusinessRespiratory InsufficiencyCohort studyCritical Care Medicine
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Noninvasive Ventilation of Patients with Acute Respiratory Distress Syndrome: Insights from the LUNG SAFE Study

2016

Rationale: Noninvasive ventilation (NIV) is increasingly used in patients with acute respiratory distress syndrome (ARDS). The evidence supporting NIV use in patients with ARDS remains relatively sparse.Objectives: To determine whether, during NIV, the categorization of ARDS severity based on the PaO2/FiO2 Berlin criteria is useful.Methods: The LUNG SAFE (Large Observational Study to Understand the Global Impact of Severe Acute Respiratory Failure) study described the management of patients with ARDS. This substudy examines the current practice of NIV use in ARDS, the utility of the PaO2/FiO2 ratio in classifying patients receiving NIV, and the impact of NIV on outcome.Measurements and Main…

MaleARDSprocedureblood oxygen tensionCritical Care and Intensive Care MedicineSeverity of Illness Indexlaw.invention0302 clinical medicinelawHospital MortalityRespiratory Distress SyndromeAcute respiratory distress syndromeadult respiratory distress syndromeMiddle AgedIntensive care unitIntensive Care Unitsmedicine.anatomical_structureTreatment Outcomepriority journalpositive end expiratory pressureNoninvasive ventilationdisease severityFemaletreatment outcome AgedNoninvasive ventilationprospective studyHumanAdultPulmonary and Respiratory Medicinemedicine.medical_specialtycohort analysiIntensive Care Unitdisease classificationAcute respiratory distressArticleNO03 medical and health sciencesacute respiratory distress syndrome; noninvasive ventilationlength of staySeverity of illnessSettore MED/41 - ANESTESIOLOGIAmedicineSequential Organ Failure Assessment ScoreHumansIn patientAcute respiratory distress syndrome; Noninvasive ventilation; Aged; Female; Hospital Mortality; Humans; Intensive Care Units; Male; Middle Aged; Respiratory Distress Syndrome Adult; Severity of Illness Index; Treatment Outcome; Noninvasive Ventilation; Pulmonary and Respiratory Medicine; Critical Care and Intensive Care MedicineIntensive care medicineoutcome assessmentAgedLungbusiness.industryRespiratory Distress Syndrome Adult030208 emergency & critical care medicinemedicine.diseasemajor clinical studymortalityrespiratory tract diseasesbreathing ratemulticenter study030228 respiratory systemincidenceObservational studyobservational studybusinessAcute respiratory distress syndrome; Noninvasive ventilation;
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Variable impact on mortality of AIDS-defining events diagnosed during combination antiretroviral therapy : not all AIDS-defining conditions are creat…

2009

Contains fulltext : 80963.pdf (Publisher’s version ) (Open Access) BACKGROUND: The extent to which mortality differs following individual acquired immunodeficiency syndrome (AIDS)-defining events (ADEs) has not been assessed among patients initiating combination antiretroviral therapy. METHODS: We analyzed data from 31,620 patients with no prior ADEs who started combination antiretroviral therapy. Cox proportional hazards models were used to estimate mortality hazard ratios for each ADE that occurred in >50 patients, after stratification by cohort and adjustment for sex, HIV transmission group, number of antiretroviral drugs initiated, regimen, age, date of starting combination antiretrovir…

MaleInfectious diseases and international health [NCEBP 13]Lymphoma030312 virologyEsophageal candidiasisCohort Studies0302 clinical medicineInterquartile range030212 general & internal medicineAIDS-RelatedLymphoma AIDS-Related0303 health sciencesMortality rateProgressive multifocal leukoencephalopathyHazard ratioPrognosis3. Good healthPathogenesis and modulation of inflammation [N4i 1]Infectious DiseasesCombinationDrug Therapy CombinationFemaleInfection and autoimmunity [NCMLS 1]HumanMicrobiology (medical)Adultmedicine.medical_specialtyPrognosiAnti-HIV Agentsantiretroviral therapyInfectious DiseaseArticleAIDS-Related Opportunistic Infection03 medical and health sciencesAcquired immunodeficiency syndrome (AIDS)Drug TherapyInternal medicinemedicineHumansAIDS-defining eventProportional Hazards ModelsAIDS-Related Opportunistic Infections/diagnosis/ mortality; Acquired Immunodeficiency Syndrome/complications/diagnosis/drug; therapy/ mortality; Adult; Anti-HIV Agents/ therapeutic use; Cohort Studies; Drug Therapy; Combination; Female; Humans; Lymphoma; AIDS-Related/diagnosis/mortality; Male; Prognosis; Proportional Hazards ModelsAcquired Immunodeficiency SyndromeAIDS-Related Opportunistic Infectionsbusiness.industryProportional hazards modelPoverty-related infectious diseases [N4i 3]Anti-HIV Agentmedicine.diseasemortalityConfidence intervalImmunologyProportional Hazards ModelCohort Studiebusiness
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