0000000000757362

AUTHOR

Nawale Hadouiri

showing 2 related works from this author

Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutation

2020

Abstract The MTOR gene encodes the mechanistic target of rapamycin (mTOR), which is a core component of the PI3K-AKT-mTOR signaling pathway. Postzygotic MTOR variants result in various mosaic phenotypes, referred to in OMIM as Smith-Kinsgmore syndrome or focal cortical dysplasia. We report here the case of a patient, with an MTOR mosaic gain-of-function variant (p.Glu2419Lys) in the DNA of 41% skin cells, who received compassionate off-label treatment with everolimus for refractory epilepsy. This 12-year-old-girl presented with psychomotor regression, intractable seizures, hypopigmentation along Blaschko's lines (hypomelanosis of Ito), asymmetric regional body overgrowth, and ocular anomali…

0301 basic medicineOncologyCompassionate Use Trialsmedicine.medical_specialty[SDV]Life Sciences [q-bio]030105 genetics & heredityMuscle hypertrophyCraniofacial Abnormalities03 medical and health sciencesInternal medicineGeneticsmedicineHumansEverolimusChildMechanistic target of rapamycinProtein Kinase InhibitorsGenetics (clinical)PI3K/AKT/mTOR pathwayHypopigmentationEverolimusbiologybusiness.industryMosaicismTOR Serine-Threonine KinasesNeuropsychologyGeneral MedicineCortical dysplasiamedicine.disease3. Good healthClinical trialMalformations of Cortical Development[SDV] Life Sciences [q-bio]030104 developmental biologyPhenotypeGain of Function Mutationbiology.proteinFemaleEpilepsies Partialmedicine.symptombusinessmedicine.drug
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Morbidité du site donneur après un prélèvement de lambeau libre de fibula vascularisé : analyse de la marche lors d’épreuve prolongée

2016

Introduction Les muscles jambiers et fibula jouent un role important durant la marche. Le prelevement de lambeau libre de fibula vascularise (LLFV) aurait un impact sur courtes distances de marche. Celui-ci est encore peu explore sur longues distances. L’objectif etait d’analyser le retentissement du prelevement de LLFV a travers l’evolution de parametres spatiotemporels lors d’un test de marche de 6 minutes (TM6) et comparer ces resultats a ceux d’un groupe temoin. Methodes Onze patients post-LLFV et 11 controles apparies sains ont ete inclus. Les evaluations consistaient en un recueil de donnees cliniques, un TM6 avec analyse des parametres spatiotemporels de marche et de l’angle du pas (…

NeurologyPhysiology (medical)Neurology (clinical)General MedicineNeurophysiologie Clinique/Clinical Neurophysiology
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