0000000001030434

AUTHOR

Olimpia Musumeci

showing 2 related works from this author

Central nervous system involvement in late-onset Pompe disease: clues from neuroimaging and neuropsychological analysis

2018

Background and purpose Late-onset Pompe disease (LOPD) is a rare, multisystem disorder that is well established to mainly impair skeletal muscle function. Systematic studies exploring brain functions in LOPD are lacking. The aim of this study was to detect morphological and functional brain alterations as well as neuropsychological impairment in LOPD. Methods We studied 21 patients (10 male, mean age 49 ± 18.4 years) with defined diagnosis of LOPD, divided into two groups: one with pre-symptomatic hyperCKemia with no muscle weakness and the second with limb-girdle muscle weakness. All patients underwent 3T magnetic resonance imaging (MRI) to obtain morphological/angiographic evaluation as w…

AdultMalemedicine.medical_specialtyAdolescentSmoker scoreNeuropsychological Testscerebrovascular abnormalitieslate-onset Pompe diseaseYoung Adult03 medical and health sciences0302 clinical medicineAtrophyNeuroimagingInternal medicineConnectomemedicinecerebrovascular abnormalities Fazekas score functional magnetic resonance imaging late-onset Pompe disease Pompe disease Smoker score Neurology Neurology (clinical)HumansCognitive Dysfunction030212 general & internal medicineNeuropsychological assessmentAge of OnsetGray MatterAgedmedicine.diagnostic_testGlycogen Storage Disease Type IIbusiness.industryMuscle weaknessPompe diseaseMagnetic resonance imagingMiddle Agedmedicine.diseaseMagnetic Resonance Imagingfunctional magnetic resonance imagingHyperintensityFazekas scoreSuperior frontal gyrusNeurologyBrain sizeCardiologyFemaleNeurology (clinical)medicine.symptombusiness030217 neurology & neurosurgery
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Vacuolated PAS-Positive Lymphocytes on Blood Smear: An Easy Screening Tool and a Possible Biomarker for Monitoring Therapeutic Responses in Late Onse…

2018

Background: Primary aim was to investigate the diagnostic value of PAS-positive vacuolated lymphocytes on blood smear in Late Onset Pompe Disease (LOPD) patients and, secondly, to evaluate its potential utility in monitoring treatment effects.Methods: We examined blood smear of 26 LOPD patients. We evaluated 10 treated and 16 untreated LOPD patients. Among the latter group, 7 patients later initiated ERT and were tested again 6 months after start. Blood smear was also sampled from 82 controls and 19 patients with other muscle glycogenoses (MGSDs). PAS staining was used to evaluate: (1) presence of lymphocytes with glycogen-filled vacuoles, (2) quantification of vacuolated lymphocytes.Result…

0301 basic medicinemedicine.medical_specialtytherapeutic monitoringBlood smear; LOPD screening test; PAS-positive lymphocytes; Pompe disease; Therapeutic monitoring; Neurology; Neurology (clinical)Late onsetPeriodic acid–Schiff stainDiseasePAS-positive lymphocytesGastroenterologylcsh:RC346-429Vacuolated Lymphocytes03 medical and health sciences0302 clinical medicineInternal medicineBlood smear; LOPD screening test; PAS-positive lymphocytes; Pompe disease; Therapeutic monitoringmedicineScreening toolLOPD screening testlcsh:Neurology. Diseases of the nervous systemOriginal Researchbusiness.industryPompe diseasePredictive value030104 developmental biologyBlood smearNeurologyblood smearBiomarker (medicine)Neurology (clinical)business030217 neurology & neurosurgeryFrontiers in neurology
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