Search results for "AMYOTROPHIC-LATERAL-SCLEROSIS"

showing 3 items of 3 documents

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

2018

MaleAls geneGenome-wide association studyFAMILIAL ALSALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS0302 clinical medicine80 and overPsychologyGWASKIF5AAetiologycargoAged 80 and over0303 health sciencesFrench ALS ConsortiumKinesinKINESIN HEAVY-CHAINCognitive Sciencesaxonal transportHumanHereditary spastic paraplegiaNeuroscience(all)Single-nucleotide polymorphismTARGETED DISRUPTIONArticle03 medical and health sciencesGeneticsHumansAmino Acid SequenceLoss functionAgedHEXANUCLEOTIDE REPEATNeuroscience (all)MUTATIONSAmyotrophic Lateral Sclerosis3112 Neurosciences1702 Cognitive Sciencemedicine.diseaseITALSGEN ConsortiumAnswer ALS Foundation030104 developmental biologyALS Sequencing ConsortiumHuman medicine1109 Neurosciences030217 neurology & neurosurgery0301 basic medicineALS; GWAS; KIF5A; WES; WGS; axonal transport; cargo[SDV]Life Sciences [q-bio]KinesinsNeurodegenerativeGenetic analysisGenomeAMYOTROPHIC-LATERAL-SCLEROSIS3124 Neurology and psychiatryCohort StudiesPathogenesisLoss of Function MutationMissense mutation2.1 Biological and endogenous factorsAmyotrophic lateral sclerosisNYGC ALS ConsortiumGeneticsGeneral NeuroscienceALS axonal transport cargo GWAS KIF5A WES WGSMiddle AgedPhenotypeSettore MED/26 - NEUROLOGIANeurologicalProject MinE ALS Sequencing ConsortiumKinesinWESFemaleAdultBiologyGENOTYPE IMPUTATIONALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Adult; Aged; Aged 80 and over; Amino Acid Sequence; Amyotrophic Lateral Sclerosis; Cohort Studies; Female; Genome-Wide Association Study; Humans; Kinesin; Loss of Function Mutation; Male; Middle Aged; Young AdultNOYoung AdultRare DiseasesmedicineSLAGEN ConsortiumGene030304 developmental biologyClinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) ConsortiumNeurology & NeurosurgeryHuman GenomeNeurosciencesAXONAL-TRANSPORTBrain DisordersALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS;Family memberDNA-DAMAGEMOTOR-NEURONS3111 BiomedicineCohort StudieALSGenomic Translation for ALS Care (GTAC) ConsortiumWGSAmyotrophic Lateral SclerosiGenome-Wide Association StudyALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Neuroscience (all)

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Noninvasive positive-pressure ventilation in ALS: predictors of tolerance and survival.

2006

Objective: To identify factors associated with tolerance and survival after noninvasive positive-pressure ventilation (NIPPV) and to investigate the influence of NIPPV on lung function in patients with ALS. Methods: NIPPV was offered to 71 patients with ALS in accordance with currently published guidelines. Effects of NIPPV on lung function and factors influencing tolerance and survival after NIPPV were studied. Results: Forty-four patients (61.9%; 95% CI: 50.6 to 73.2) tolerated NIPPV (NIPPV use >= 4 h/day) and 27 (38.1%; 95% CI: 26.8 to 49.4) were intolerant (NIPPV use = 4 h/day) and to the modifications of forced vital capacity decline after treatment initiation. The severity of bulbar i…

MaleNUTRITIONAL-STATUSmedicine.medical_specialtyVital capacityTime FactorsPositive pressureAMYOTROPHIC-LATERAL-SCLEROSISDISEASEPositive-Pressure RespirationFEV1/FVC ratioPredictive Value of TestsInternal medicineSickness Impact ProfilemedicineHumansSurvival rateLungAgedDemographyRetrospective StudiesVentilators Mechanicalbusiness.industryAmyotrophic Lateral SclerosisFUNCTIONAL RATING-SCALECAREMiddle AgedSurgeryRespiratory Function TestsSurvival RatePredictive value of testsRelative riskMultivariate AnalysisCardiologyBreathingFemaleNeurology (clinical)businessBody mass indexFollow-Up StudiesNeurology

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Long-term volume-targeted pressure-controlled ventilation: sense or nonsense?

2017

The technology underlying the development of novel ventilatory modes for long-term noninvasive ventilation of patients with chronic hypercapnia is continuously evolving. Volume-targeted pressure-controlled ventilation is a hybrid ventilation mode designed to combine the advantages of conventional ventilation modes, while avoiding their drawbacks. However, manufacturers have created different names and have patented algorithms and set-up variables, which can result in confusion for physicians and respiratory therapists. In addition, clear evidence for the superiority of this novel mode has not yet been established. These factors have most likely hindered more widespread use of this mode in c…

Pulmonary and Respiratory Medicinemedicine.medical_specialtySLEEP QUALITYPressure controlled ventilationChronic hypercapniaHOME MECHANICAL VENTILATIONOBSTRUCTIVE PULMONARY-DISEASEAMYOTROPHIC-LATERAL-SCLEROSISlaw.inventionHypercapnia03 medical and health sciences0302 clinical medicineOBESITY-HYPOVENTILATION SYNDROMElawACUTE RESPIRATORY-FAILUREmedicineCOPDHumansLEAKS030212 general & internal medicineIntensive care medicineRANDOMIZED CROSSOVER TRIALClinical Trials as TopicHybrid ventilationNoninvasive Ventilationbusiness.industryTerm (time)Clinical PracticeSUPPORT NONINVASIVE VENTILATION030228 respiratory systemEvaluation Studies as TopicVentilation (architecture)Noninvasive ventilationbusinessRespiratory InsufficiencyConventional ventilationHumanThe European respiratory journal

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