0000000000601338

AUTHOR

Antonio Pisani

showing 11 related works from this author

Abincol® (Lactobacillus plantarum LP01, Lactobacillus lactis subspecies cremoris LLC02, Lactobacillus delbrueckii LDD01), an oral nutraceutical, prag…

2019

Chronic intestinal disorders (CID), including inflammatory bowel disease (IBD), such as ulcerative colitis and Crohn’s disease, irritable bowel syndrome (IBS), and diverticular disease (DD), are diseases that relapse episodes. There is evidence that patients with CID have intestinal dysbiosis, so probiotics may counterbalance the impaired microbiota. Therefore, the current survey evaluated the efficacy and safety of Abincol®,an oral nutraceuticalcontaining a probiotic mixture with Lactobacillus plantarum LP01 (1 billion of living cells), Lactobacillus lactis subspecies cremoris LLC02 (800 millions of living cells), and Lactobacillus delbrueckii LDD01 (200 millions of living cells), in 3,460…

Diverticular DiseasesMaleirritable bowel syndromeLactobacillus delbrueckiiProbioticsdiverticular diseaseAdministration OralInflammatory bowel disease irritable bowel syndrome diverticular disease probiotic surveyMiddle AgedInflammatory Bowel DiseasesLactobacillusinflammatory bowel diseaseChronic DiseaseDietary SupplementsHumansFemaleOriginal ArticlesurveySelf ReportprobioticLactobacillus plantarumActa bio-medica : Atenei Parmensis
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Lactobacillus plantarum LP01, Lactobacillus lactis subspecies cremoris LLC02, and Lactobacillus delbrueckii LDD01) in patients undergoing bowel prepa…

2019

Bowel preparation (BP) for colonoscopy induces significantly changes in gut microbiota and elicit intestinal symptoms. Impaired microbiota causes an intestinal dysbiosis. Consequently, probiotics may counterbalance the disturbed microbiota after BP. The current survey evaluated the efficacy and safety of Abincol®,an oral nutraceuticalcontaining a probiotic mixture with Lactobacillus plantarum LP01 (1 billion of living cells), Lactobacillus lactis subspecies cremoris LLC02 (800 millions of living cells), and Lactobacillus delbrueckii LDD01 (200 millions of living cells), in 2,979 outpatients (1,579 males and 1,400 females, mean age 56 years) undergoing BP. Patients took 1 stick/daily for 4 w…

MaleLactobacillus delbrueckiigut microbiotaProbioticsColonoscopyMiddle AgedLactobacillusPreoperative Carebowel preparationDysbiosisHumansFemaleOriginal Articlesurveybowel preparation gut microbiota colonoscopy probiotics surveyLactobacillus plantarumActa bio-medica : Atenei Parmensis
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Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?

2018

Anderson-Fabry disease (FD) is a rare, progressive, multisystem storage disorder caused by the partial or total deficit of the lysosomal enzyme &alpha

0301 basic medicineProbandMaleDiseasemedicine.disease_causeSphingolipidCatalysilcsh:Chemistry0302 clinical medicineGla geneFabry disease; GLA gene; LysoGb3MedicineChildlcsh:QH301-705.5Spectroscopychemistry.chemical_classificationGeneticsAlleleAged 80 and overMutationComputer Science Applications1707 Computer Vision and Pattern RecognitionGeneral MedicineMiddle AgedPhenotype3. Good healthComputer Science ApplicationsPhenotypeChild PreschoolFemaleHumanAdultAdolescentGenotypeGlycolipidCatalysisArticleInorganic Chemistry03 medical and health sciencesYoung Adultotorhinolaryngologic diseasesHumansPhysical and Theoretical ChemistryMolecular BiologyGeneGLA geneAllelesAgedFabry diseaseSphingolipidsbusiness.industryOrganic ChemistryInfant NewbornLysoGb3InfantBiomarkerFabry disease; gla gene; lysogb3; adolescent; adult; aged; aged 80 and over; alleles; amino acid substitution; biomarkers; child; child preschool; fabry disease; female; genotype; glycolipids; humans; infant; infant newborn; male; middle aged; phenotype; sphingolipids; young adult; alpha-galactosidase; mutationmedicine.diseaseFabry disease030104 developmental biologyEnzymechemistrylcsh:Biology (General)lcsh:QD1-999Amino Acid Substitutionalpha-GalactosidaseMutationGlycolipidsbusiness030217 neurology & neurosurgeryBiomarkersInternational Journal of Molecular Sciences
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Clinical Correlates of Functional Motor Disorders: An Italian Multicenter Study

2020

Background\ud Functional motor disorders (FMDs) are abnormal movements that are significantly altered by distractive maneuvers and are incongruent with movement disorders seen in typical neurological diseases.\ud \ud Objective\ud The objectives of this article are to (1) describe the clinical manifestations of FMDs, including nonmotor symptoms and occurrence of other functional neurological disorders (FND); and (2) to report the frequency of isolated and combined FMDs and their relationship with demographic and clinical variables.\ud \ud Methods\ud For this multicenter, observational study, we enrolled consecutive outpatients with a definite diagnosis of FMDs attending 25 tertiary movement …

0301 basic medicineWeaknessPediatricsmedicine.medical_specialtyMovement disordersfunctional neurological disordersdiagnosisPopulationfunctional weakneDisease030105 genetics & heredityfunctional weakness03 medical and health sciences0302 clinical medicinefunctional neurological disordermedicineeducationResearch Articleseducation.field_of_studyfunctional neurological disorders; functional dystonia; functional tremor; functional weakness; diagnosisbusiness.industryfunctional neurological disorders functional dystonia functional tremor functional weakness diagnosisFunctional weaknessfunctional dystoniatremorNeurologyMulticenter studyAnxietyfunctional tremorSettore MED/26 - NeurologiaObservational studydystoniaNeurology (clinical)medicine.symptombusinessfunctional neurological disorders functional dystonia functional tremor functional weakness diagnosis.030217 neurology & neurosurgery
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CKD NUTRITION, INFLAMMATION AND OXIDATIVE STRESS

2014

Introduction and Aims: Serum p-cresyl sulfate associates with cardiovascular disease in patients at different stages of chronic kidney disease. p-Cresyl sulfate concentrations are determined by intestinal uptake of p-cresol, human metabolism to p-cresyl sulfate and renal clearance. Whether intestinal uptake of p-cresol itself is associated with cardiovascular disease in patients with renal disease has not been studied to date. Methods: We performed a prospective study in patients with chronic kidney disease stage 1-5 (clinicaltrials.gov NCT00441623). Intestinal uptake of p-cresol, under steady state conditions, was estimated from 24h urinary excretion of p-cresyl sulfate. Primary endpoint w…

Transplantationmedicine.medical_specialtyFramingham Risk ScoreCardiovascular Historybusiness.industryHazard ratioRenal functionmedicine.diseaseGastroenterologyEndocrinologyNephrologyDiabetes mellitusInternal medicinemedicineMyocardial infarctionProspective cohort studybusinessKidney diseaseNephrology Dialysis Transplantation
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A pilot study of circulating microRNAs as potential biomarkers of Fabry disease

2018

Patients suffering from Fabry disease (FD), a lysosomal storage disorder, show a broad range of symptoms and the diagnosis followed by the therapeutic decision remains a great challenge. The biomarkers available today have not proven to be useful for predicting the evolution of the disease and for assessing response to therapy in many patients. Here, we used high-throughput microRNA profiling methodology to identify a specific circulating microRNA profile in FD patients. We discovered a pattern of 10 microRNAs able to identify FD patients when compared to healthy controls. Notably, two of these: the miR199a-5p and the miR-126-3p are able to discriminate FDs from the control subjects with le…

0301 basic medicineOncologymedicine.medical_specialtyDisease030204 cardiovascular system & hematologyLeft ventricular hypertrophy03 medical and health sciences0302 clinical medicineSettore BIO/13 - Biologia ApplicataInternal medicinemedicinePathologyEndothelial dysfunctionPathologicalFabry diseasebusiness.industryMicroRNAEnzyme replacement therapyBiomarkermedicine.diseaseFabry diseaseBiomarker; ERT; Fabry disease; LVH; MicroRNA; Pathology; OncologyCirculating MicroRNALVH030104 developmental biologyOncologyBiomarker (medicine)ERTbusiness
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Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group

2017

Fabry disease (FD) [OMIM 301500] is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A, resulting in progressive multisystem accumulation of globotriaosylceramide (Gb3). Although the introduction of Enzyme Replacement Therapy (ERT) resulted in a variety of clinical benefits, life-long intravenous (IV) treatment with ERT with an every other week schedule, may interfere with daily life activities and impact on QoL. We report here a multicentric, observational, longitudinal data analysis on a large cohort of 85 Italian FD patients (45 males, 40 females) from 11 out of 20 Italian regions, who received a cumulative number of 4269 home infu…

0301 basic medicinePediatricsmedicine.medical_specialtyQoLGlobotriaosylceramide03 medical and health scienceschemistry.chemical_compoundCollaborative group0302 clinical medicineEndocrinologyDisease severityGeneticGeneticsMedicine030212 general & internal medicinelcsh:QH301-705.5Molecular Biologylcsh:R5-920Fabry diseasebusiness.industrySettore BIO/14Home treatmentEnzyme replacement therapyAdherence; Enzyme replacement therapy; Fabry disease; Home treatment; QoLmedicine.diseaseFabry disease3. Good health030104 developmental biologylcsh:Biology (General)chemistryAdherenceEnzyme replacement therapyCohortarticle;congenital malformation; Fabry disease; enzyme replacement therapy; home treatment ; adherence; QoLObservational studyHome treatmentlcsh:Medicine (General)businessResearch Paper
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Corpus callosum involvement: a useful clue for differentiating Fabry Disease from Multiple Sclerosis.

2017

PURPOSE: Multiple sclerosis (MS) has been proposed as a possible differential diagnosis for Fabry disease (FD). The aim of this work was to evaluate the involvement of corpus callosum (CC) on MR images and its possible role as a radiological sign to differentiate between FD and MS. METHODS: In this multicentric study, we retrospectively evaluated the presence of white matter lesions (WMLs) on the FLAIR images of 104 patients with FD and 117 patients with MS. The incidence of CC-WML was assessed in the two groups and also in a subgroup of 37 FD patients showing neurological symptoms. RESULTS: WMLs were detected in 50 of 104 FD patients (48.1%) and in all MS patients. However, a lesion in the…

AdultMalemedicine.medical_specialtyPathologyNeurologySettore MED/09 - Medicina InternaAdolescentCorpus callosumFluid-attenuated inversion recoveryCorpus callosumCorpus callosum; Fabry disease; MRI; Multiple sclerosis030218 nuclear medicine & medical imagingDiagnosis DifferentialMultiple sclerosis03 medical and health sciences0302 clinical medicinemedicineHumansRadiology Nuclear Medicine and imagingAgedRetrospective StudiesNeuroradiologyFabry diseasebusiness.industryMultiple sclerosisMiddle Agedmedicine.diseaseMagnetic Resonance ImagingFabry diseaseHyperintensityCorpus callosum; Fabry disease; MRI; Multiple sclerosis.FemaleNeurology (clinical)RadiologyDifferential diagnosisCardiology and Cardiovascular Medicinebusiness030217 neurology & neurosurgeryMRI
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Molecular and clinical studies in five index cases with novel mutations in the GLA gene

2016

Fabry disease is a metabolic and lysosomal storage disorder caused by the functional defect of the α-galactosidase A enzyme; this defect is due to mutations in the GLA gene, that is composed of seven exons and is located on the long arm of the X-chromosome (Xq21–22). The enzymatic deficit is responsible for the accumulation of glycosphingolipids in lysosomes of different cellular types, mainly in those ones of vascular endothelium. It consequently causes a cellular and microvascular dysfunction. In this paper, we described five novel mutations in the GLA gene, related to absent enzymatic activity and typical manifestations of Fabry disease. We identified three mutations (c.846_847delTC, p.E…

0301 basic medicineAdultMalep.R227Pnovel moutationAdolescentc.639 + 5G > TMutation MissenseBiologyLeft ventricular hypertrophy03 medical and health sciencesExonYoung Adult0302 clinical medicineSettore BIO/13 - Biologia ApplicataGeneticsmedicinefabry; novel moutationMissense mutationAlpha-galactosidase AHumansPoint MutationCornea verticillataGenetic Predisposition to DiseaseChildfabryGLA genec.846_847delTCGeneticsAlpha-galactosidasePoint mutationFabry disease; Alpha-galactosidase A; c.846_847delTC; p.E341X; p.C382X; p.R227P; c.639 + 5G > Tp.E341XGeneral MedicineMiddle Agedmedicine.diseaseMolecular biologyFabry diseaseStop codon030104 developmental biologyp.C382Xalpha-Galactosidasebiology.proteinFabry DiseaseFemalemedicine.symptom030217 neurology & neurosurgery
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A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report

2012

Abstract Background Fabry disease (FD) is a hereditary metabolic disorder caused by the partial or total inactivation of a lysosomal hydrolase, the enzyme α-galactosidase A (GLA). This inactivation is responsible for the storage of undegraded glycosphingolipids in the lysosomes with subsequent cellular and microvascular dysfunction. The incidence of disease is estimated at 1:40,000 in the general population, although neonatal screening initiatives have found an unexpectedly high prevalence of genetic alterations, up to 1:3,100, in newborns in Italy, and have identified a surprisingly high frequency of newborn males with genetic alterations (about 1:1,500) in Taiwan. Case presentation We des…

lcsh:Diseases of the circulatory (Cardiovascular) systemPathologyα-galactosidase AAnderson-Fabry mutationBiopsyDNA Mutational AnalysisCase Reportmedicine.disease_causeGlobotriaosylceramide0302 clinical medicineSettore BIO/13 - Biologia ApplicataPromoter Regions Genetic0303 health sciencesMutationeducation.field_of_studymedicine.diagnostic_testbiologyMetabolic disorderMagnetic Resonance Imaging3. Good healthPhenotypeCardiovascular DiseasesDisease ProgressionFemaleKidney DiseasesRenal biopsyCardiology and Cardiovascular MedicineAdultmedicine.medical_specialtyPopulation03 medical and health sciencesPredictive Value of TestsBiopsymedicineHumansHigh resolution meltingGenetic Predisposition to Diseaseeducation030304 developmental biologyFabry diseaseAlpha-galactosidasebusiness.industrymedicine.diseaseFabry diseaseIntronslcsh:RC666-701alpha-GalactosidaseMutationGLAbiology.proteinbusiness030217 neurology & neurosurgeryKidney disease
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Post-surgical intestinal dysbiosis: use of an innovative mixture (Lactobacillus plantarum LP01, Lactobacillus lactis subspecies cremoris LLC02, Lacto…

2019

Abdominal surgery represents a high risk for hospital-acquired infections and complication that may compromise the surgery outcome. Patients with recent abdominal surgery have an intestinal dysbiosis. There is evidence that probiotics may counterbalance the impaired microbiota. Therefore, the current survey evaluated the efficacy and safety of Abincol®,an oral nutraceuticalcontaining a probiotic mixture with Lactobacillus plantarum LP01 (1 billion of living cells), Lactobacillus lactis subspecies cremoris LLC02 (800 millions of living cells), and Lactobacillus delbrueckii LDD01 (200 millions of living cells), in 612 outpatients (344 males and 268 females, mean age 58 years) undergoing diges…

MaleLactobacillus delbrueckiiProbioticsDigestive surgery dysbiosis microbiota probiotic surveydysbiosisMiddle AgedGastrointestinal MicrobiomeLactobacillusPostoperative ComplicationsTreatment OutcomeAbdomenmicrobiotaHumansdigestive surgeryFemaleOriginal ArticlesurveyprobioticLactobacillus plantarumActa bio-medica : Atenei Parmensis
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