0000000000485657

AUTHOR

N Smith

showing 2 related works from this author

Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis

2021

Key Points Question What genetic variants are associated with juvenile amyotrophic lateral sclerosis (ALS)? Findings In this family-based genetic study, exome sequencing was performed in 3 patients diagnosed with juvenile ALS and failure to thrive; this identified de novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient). Variants in SPTLC1 are a known cause of hereditary sensory and autonomic neuropathy, type 1A, and these data extend the phenotype associated with this gene. Meaning De novo variants in the SPTLC1 gene are associated with juvenile ALS, a fatal neurological disorder.

Hereditary sensory neuropathy; L-serine; Mutations; Deoxysphingolipids; AccumulationEnzyme complexJuvenile amyotrophic lateral sclerosisSerine C-Palmitoyltransferase/dk/atira/pure/subjectarea/asjc/2700/2728Whole Exome Sequencing0302 clinical medicineMedicineFamily historyAmyotrophic lateral sclerosisChildIndex caseExome sequencingOriginal Investigation0303 health sciencesNeurosciences and neurology3. Good healthChild PreschoolFailure to thriveFemalemedicine.symptomLife Sciences & BiomedicineL-SERINECommentsHumanAdultmedicine.medical_specialtyAdolescent; Adult; Amyotrophic Lateral Sclerosis; Child; Child Preschool; Female; Genetic Predisposition to Disease; Humans; Mutation; Serine C-Palmitoyltransferase; Whole Exome Sequencing; Young AdultAdolescentClinical NeurologyNO03 medical and health sciencesYoung AdultDEOXYSPHINGOLIPIDSInternal medicineExome SequencingOnline FirstHumansJuvenileGenetic Predisposition to DiseasePreschool030304 developmental biologyACCUMULATIONScience & TechnologySPTLC1business.industryMUTATIONSResearchAmyotrophic Lateral Sclerosis3112 Neurosciencesmedicine.diseaseHEREDITARY SENSORY NEUROPATHYjuvenileMutation3111 BiomedicineNeurology (clinical)Neurosciences & NeurologyALSgeneticbusiness030217 neurology & neurosurgeryAmyotrophic Lateral Sclerosi
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Effect of Intraoperative High Positive End-Expiratory Pressure (PEEP) with Recruitment Maneuvers vs Low PEEP on Postoperative Pulmonary Complications…

2019

Importance: An intraoperative higher level of positive end-expiratory positive pressure (PEEP) with alveolar recruitment maneuvers improves respiratory function in obese patients undergoing surgery, but the effect on clinical outcomes is uncertain. Objective: To determine whether a higher level of PEEP with alveolar recruitment maneuvers decreases postoperative pulmonary complications in obese patients undergoing surgery compared with a lower level of PEEP. Design, Setting, and Participants: Randomized clinical trial of 2013 adults with body mass indices of 35 or greater and substantial risk for postoperative pulmonary complications who were undergoing noncardiac, nonneurological surgery un…

Lung DiseasesMalemedicine.medical_treatmentAtelectasisLung Disease01 natural sciencesBody Mass IndexHypoxemiaPositive-Pressure RespirationPostoperative Complications0302 clinical medicinePEEP postoperative complications obese patientsAnesthesiaRespiratory function030212 general & internal medicineTidal volumeGeneral MedicineMiddle AgedPleural Diseasesrespiratory systemAdult; Anesthesia General; Body Mass Index; Female; Humans; Lung Diseases; Male; Middle Aged; Obesity; Pleural Diseases; Positive-Pressure Respiration; Postoperative Complications; Pulmonary Atelectasis; Respiratory Insufficiency; Surgical Procedures Operative; Tidal Volume; Treatment Outcome; Intraoperative CareOperative3. Good healthTreatment OutcomePneumothoraxSurgical Procedures OperativeAnesthesiaFemalemedicine.symptomRespiratory Insufficiencypsychological phenomena and processesHumancirculatory and respiratory physiologyAdultPulmonary AtelectasisAnesthesia GeneralNO03 medical and health sciencesmental disordersTidal VolumemedicineHumansPleural DiseaseObesity0101 mathematicsGeneralPositive end-expiratory pressureMechanical ventilationSurgical ProceduresIntraoperative CarePulmonary Atelectasibusiness.industry010102 general mathematicsmedicine.diseaserespiratory tract diseasesRespiratory failurePostoperative Complicationbusiness
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