0000000000485569

AUTHOR

S Corti

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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Validation of the 2009 TNM Version in a Large Multi-Institutional Cohort of Patients Treated for Renal Cell Carcinoma: Are Further Improvements Neede…

2010

Background: A new edition of the TNM was recently released that includes modifications for the staging system of kidney cancers. Specifically, T2 cancers were subclassified into T2a and T2b ( 10 cm), tumors with renal vein involvement or perinephric fat involvement were classified as T3a cancers, and those with adrenal involvement were classified as T4 cancers. Objective: Our aim was to validate the recently released edition of the TNM staging system for primary tumor classification in kidney cancer. Design, setting, and participants: Our multicenter retrospective study consisted of 5339 patients treated in 16 academic Italian centers. Intervention: Patients underwent either radical or part…

MaleNephrologyOncologyIMPACTmedicine.medical_treatmentValidation of the 2009 TNM version in a large multi-institutional cohort of patients treated for renal cell carcinoma: are further improvements needed?Kidney neoplasm; Nephrectomy; Renal cell carcinoma; TNM; UrologyNephrectomyTNMCohort StudiesTNM; renal cell carcinomarenal cell carcinoma; staging systemPROPOSALKidney neoplasm; Nephrectomy; Renal cell carcinoma; TNMRenal cell carcinomaPRIMARY TUMOR CLASSIFICATIONstaging systemNEPHRECTOMYRECLASSIFICATIONkidney cancerRADICAL NEPHRECTOMYMiddle AgedKidney neoplasmPrimary tumorKidney NeoplasmsNephrectomyREVISIONclassificationCohortCUTOFFKidney neoplasm; Nephrectomy; Renal cell carcinoma; TNM; Aged; Carcinoma Renal Cell; Cohort Studies; Female; Humans; Kidney Neoplasms; Male; Middle Aged; Neoplasm Staging; Retrospective StudiesFemalekidney neoplasmHumanrenal cell carcinomamedicine.medical_specialtyUrologyTNM staging systemSTRATIFICATIONInternal medicinemedicineHumansCarcinoma Renal CellAgedNeoplasm StagingRetrospective Studiesbusiness.industrykidney neoplasm; renal cell carcinoma; TNM; NEPHRECTOMYCarcinomaRenal CellRetrospective cohort studymedicine.diseaseSurgerySIZECohort StudiebusinessKidney cancerKidney diseaseEuropean Urology
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