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showing 10 items of 10618 documents

Characterization of a mutant form of human apolipoprotein B (Thr26_Tyr27del) associated with familial hypobetalipoproteinemia

2016

We have previously identified a deletion mutant of human apoB [apoB (Thr26_Tyr27del)] in a subject with primary hypobetalipoproteinemia. The present study determined the effect of Thr26_Tyr27del mutation on apoB secretion using transfected McA-RH7777 cells. Transient or stable transfection of apoB-48 containing the Thr26_Tyr27del mutation showed drastically reduced secretion of the mutant as compared to wild-type apoB-48. No lipoproteins containing the mutant apoB-48 were secreted into the medium. Incubation of transfected cells in a lipid-rich medium in the presence of cycloheximide showed rapid turnover of cell-associated mutant apoB-48 as compared to that of wild-type apoB-48. Immunofluo…

0301 basic medicineSettore MED/09 - Medicina InternaTime FactorsApolipoprotein B-48 secretionApolipoprotein BMutantDNA Mutational AnalysisApolipoprotein B mutation Apolipoprotein B-48 secretion Hypobetalipoproteinemia Proteasomal degradation030204 cardiovascular system & hematologymedicine.disease_causeEndoplasmic ReticulumHypobetalipoproteinemiaschemistry.chemical_compound0302 clinical medicineProteasomal degradationProteolysiSequence DeletionMutationbiologyMedicine (all)TransfectionProteasome InhibitorPhenotypeBiochemistryApolipoprotein B-100lipids (amino acids peptides and proteins)Proteasome InhibitorsHumanHeterozygoteProteasome Endopeptidase ComplexTime FactorCycloheximideTransfectiondigestive systemCell LineDNA Mutational Analysi03 medical and health sciencesmedicineHumansSecretionGenetic Predisposition to DiseaseMolecular BiologyEndoplasmic reticulumnutritional and metabolic diseasesCell Biologymedicine.diseaseMolecular biology030104 developmental biologychemistryProteolysisbiology.proteinHypobetalipoproteinemiaApolipoprotein B mutationApolipoprotein B-48Hypobetalipoproteinemia
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Altilix® Supplement Containing Chlorogenic Acid and Luteolin Improved Hepatic and Cardiometabolic Parameters in Subjects with Metabolic Syndrome: A 6…

2019

The objective was to evaluate the effects of 6 months of supplementation with Altilix&reg

0301 basic medicineSettore MED/09 - Medicina Internacynaragenetic structuresPlacebo-controlled study030204 cardiovascular system & hematologySettore BIO/09 - FisiologiaGastroenterology0302 clinical medicineDiabetes mellitusimmune system diseasescardiovascular diseasehemic and lymphatic diseasesBrachial arteryLuteolinNutrition and Dieteticsdiabetes mellituFatty liverhemic and immune systemsDietary supplementsMetabolic syndromeCardiovascular diseasesLivertype 2diabetes mellitusChlorogenic Acidlcsh:Nutrition. Foods and food supplymedicine.medical_specialtyWaistlcsh:TX341-641chemical and pharmacologic phenomenaCynaraPlacebometabolic syndromedietary supplements03 medical and health sciencesDouble-Blind MethodInternal medicineDiabetes mellitusmedicine.arterymedicinebusiness.industrynon-alcoholic fatty liver diseasemedicine.diseasecardiovascular diseases030104 developmental biologydietary supplementSteatosisMetabolic syndromebusinessFood ScienceNon-alcoholic fatty liver disease
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HLA and killer cell immunoglobulin-like receptor (KIRs) genotyping in patients with acute viral encephalitis

2018

// Antonino Tuttolomondo 1 , Claudia Colomba 2 , Danilo Di Bona 6 , Alessandra Casuccio 4 , Domenico Di Raimondo 1 , Giuseppe Clemente 1 , Valentina Arnao 5 , Rosaria Pecoraro 1 , Paolo Ragonese 5 , Anna Aiello 3 , Giulia Accardi 3 , Rosario Maugeri 5 , Carlo Maida 1 , Irene Simonetta 1 , Vittoriano Della Corte 1 , Domenico Gerardo Iacopino 5 , Calogero Caruso 3 , Antonio Cascio 2 and Antonio Pinto 1 on behalf of KIRIIND (KIR Infectious and Inflammatory Diseases) Collaborative Group 1 U.O.C di Medicina Interna con Stroke Care, Dipartimento Biomedico di Medicina Interna e Specialistica (Di.Bi.M.I.S), Universita degli Studi di Palermo, Palermo, Italy 2 U.O.C di Malattie Infettive, Dipartiment…

0301 basic medicineSettore MED/09 - Medicina InternaencephalitisKiller-cell immunoglobulin-like receptorHuman leukocyte antigenAcute viral encephalitis03 medical and health sciences0302 clinical medicineEncephalitimedicineIn patientGenotypingSettore MED/04 - Patologia Generalebusiness.industryHaplotypemedicine.diseaseVirologyKIRHLA030104 developmental biologyEncephalitis; HLA; KIRs; OncologyOncologybusinessKIR3DL1KIRs030217 neurology & neurosurgeryEncephalitisResearch Paper
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Trichomonicidal and parasite membrane damaging activity of bidesmosic saponins from Manilkara rufula.

2017

The infection caused by Trichomonas vaginalis is the most common but overlooked non-viral sexually transmitted disease worldwide. Treatment relies on one class of drugs, the 5-nitroimidazoles, but resistance is widespread. New drugs are urgently needed. We reported the effect of crude and purified saponin fractions of Manilkara rufula against Trichomonas vaginalis. The compound responsible for antitrichomonal activity was isolated and identified as an uncommon bidesmosic saponin, Mi-saponin C. This saponin eliminated parasite viability without toxicity against the human vaginal epithelial line (HMVII). In addition, the isolated saponin fraction improved the metronidazole effect against a me…

0301 basic medicineSexually transmitted diseaseNeutrophilsCell MembranesSaponinlcsh:Medicinemedicine.disease_causePathology and Laboratory MedicineBiochemistryMass SpectrometryAnalytical ChemistryWhite Blood CellsOxidative DamageSpectrum Analysis TechniquesAnimal CellsMedicine and Health SciencesParasite hostingElectron Microscopylcsh:Sciencechemistry.chemical_classificationSexually transmitted diseasesTrichomonas VaginalisMicroscopyMultidisciplinaryEukaryotaProtistsMatrix-Assisted Laser Desorption Ionization Mass Spectrometrymusculoskeletal systemChemistryFlagellaToxicityPhysical SciencesVaginaTrichomonasFemaleCellular TypesCellular Structures and OrganellesPathogensMalalties de transmissió sexualIntracellularmedicine.drugResearch ArticlePathogen MotilityEfecte dels medicaments sobre els microorganismesVirulence FactorsImmune CellsImmunologyBiologyResearch and Analysis Methodscomplex mixturesMicrobiologyCell Line03 medical and health sciencesParasite Groupsparasitic diseasesmedicineTrichomonas vaginalisSaponinasHumansTrophozoitesResistència als medicamentsManilkaraBlood CellsCell Membranelcsh:ROrganismsBiology and Life SciencesCell BiologyIntracellular MembranesSaponinsbiology.organism_classificationCell membranescarbohydrates (lipids)MetronidazoleMicroscopy Electron030104 developmental biologychemistryManilkara rufulaDrug resistanceEffect of drugs on microorganismsTrichomonas vaginalisParasitologyTransmission Electron Microscopylcsh:QReactive Oxygen SpeciesApicomplexaMembranes cel·lularsChromatography LiquidPRODUTOS NATURAISPLoS ONE
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PACAP38 and PAC1 receptor blockade: a new target for headache?

2018

Abstract Pituitary adenylate cyclase activating polypeptide-38 (PACAP38) is a widely distributed neuropeptide involved in neuroprotection, neurodevelopment, nociception and inflammation. Moreover, PACAP38 is a potent inducer of migraine-like attacks, but the mechanism behind this has not been fully elucidated. Migraine is a neurovascular disorder, recognized as the second most disabling disease. Nevertheless, the antibodies targeting calcitonin gene-related peptide (CGRP) or its receptor are the only prophylactic treatment developed specifically for migraine. These antibodies have displayed positive results in clinical trials, but are not effective for all patients; therefore, new pharmacol…

0301 basic medicineSide effectPAC1 receptorMigraine DisordersMigraine Disorders/drug therapylcsh:MedicinePituitary Adenylate Cyclase-Activating Polypeptide/antagonists & inhibitorsReview ArticleTriptansPharmacologyCalcitonin gene-related peptidePACAPNeuroprotectionmigraine; PAC1 receptor; PACAP; prophylactic treatment; animals; disease models animal; headache; humans; migraine disorders; pituitary adenylate cyclase-activating polypeptide; receptors pituitary adenylate cyclase-activating polypeptide type I; neurology (clinical); anesthesiology and pain medicine03 medical and health sciences0302 clinical medicineAnimalsHumansMedicineMigraine treatmentReceptorMigraineHeadache/drug therapybusiness.industrylcsh:RHeadacheGeneral Medicinemedicine.disease3. Good healthBlockadeDisease Models Animal030104 developmental biologyAnesthesiology and Pain MedicineMigrainePituitary Adenylate Cyclase-Activating PolypeptideNeurology (clinical)businessProphylactic treatment030217 neurology & neurosurgeryReceptors Pituitary Adenylate Cyclase-Activating Polypeptide Type IReceptors Pituitary Adenylate Cyclase-Activating Polypeptide Type I/antagonists & inhibitorsmedicine.drugJournal of Headache and Pain
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Microorganism adhesion using silicon dioxide: An experimental study

2020

In this study, spectrophotometry was used to measure changes in the absorbance properties of yeast, Gram-positive, and Gram-negative bacteria after their attachment to silicon dioxide microparticles (silica). The goal of this study was to determine whether spectrophotometry is an effective method to distinguish these microorganisms from one another and determine whether they have an affinity for silicon dioxide. The experiments were performed by examining the light absorption properties of yeast, Gram-positive and Gram-negative bacteria in a spectrophotometer, both with and without silicon dioxide microparticles. The experiments produced a number of promising results. First, the spectrophot…

0301 basic medicineSilicon dioxideMicroorganismMicroorganismsMicrobiologyBiochemistryArticleClinical researchAbsorbance03 medical and health scienceschemistry.chemical_compound0302 clinical medicineSpectrophotometrySilicon dioxidemedicinelcsh:Social sciences (General)Bacterial typeslcsh:Science (General)Infectious diseaseMultidisciplinaryChromatographyBacteriamedicine.diagnostic_testbiologyChemistryNear-infrared spectroscopyLaboratory medicinebiology.organism_classificationYeastYeast030104 developmental biologySpectrophotometrylcsh:H1-99030217 neurology & neurosurgeryBacterialcsh:Q1-390Heliyon
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Daclatasvir-based regimens in HCV cirrhosis: experience from the Italian early access program

2019

AbstractWe reported the efficacy and safety data for daclatasvir (DCV)-based all-oral antiviral therapy in patients treated in the Italian compassionate-use program. 275 patients were included (202 male-73.5%, mean age: 57.4 years, 62 HIV-coinfected, 94 with recurrence of hepatitis C post-OLT). Forty-nine patients (17.8%) had Child-Pugh B, Genotype(G) distribution was: G1a:72 patients (26.2%), G1b:137 (49.8%); G3:40 (14.5%) and G4:26 (9.5%). Patients received DCV with sofosbuvir(SOF) (n = 221, 129 with ribavirin(RBV) or with simeprevir (SMV) or asunaprevir (ASU) (n = 54, 19 with RBV) for up to 24 weeks. Logistic regression was used to identify baseline characteristics associated with sustai…

0301 basic medicineSimeprevirLiver CirrhosisMalePyrrolidinesSofosbuvirSustained Virologic Responselcsh:MedicineSettore MED/05Gastroenterologychemistry.chemical_compound0302 clinical medicineLiver Function TestsINFECTIONMedicinePLUS SOFOSBUVIRlcsh:ScienceSulfonamidesMultidisciplinaryImidazolesValineHepatitis CMiddle AgedTreatment OutcomeItalySAFETYHCVSUSTAINED VIROLOGICAL RESPONSEDrug Therapy CombinationFemaleRIBAVIRINSettore BIO/19 - MICROBIOLOGIA GENERALECHRONIC HEPATITIS-Cmedicine.drugAdultmedicine.medical_specialtyDaclatasvirDrug-Related Side Effects and Adverse ReactionsAntiviral AgentsArticle03 medical and health sciencesInternal medicineHumansAgedADVANCED LIVER-DISEASEbusiness.industryRibavirinVIRUS GENOTYPE 3lcsh:RHepatitis C ChronicHCV HIV Daclatasvirmedicine.diseaseIsoquinolinesEFFICACYRegimen030104 developmental biologychemistryAsunaprevirlcsh:QLiver functionCarbamatesSofosbuvirbusiness030217 neurology & neurosurgeryScientific Reports
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Genetic 3’UTR variation is associated with human pigmentation characteristics and sensitivity to sunlight

2017

Sunlight exposure induces signalling pathways leading to the activation of melanin synthesis and tanning response. MicroRNAs (miRNAs) can regulate the expression of genes involved in pigmentation pathways by binding to the complementary sequence in their 3'untranslated regions (3'UTRs). Therefore, 3'UTR SNPs are predicted to modify the ability of miRNAs to target genes, resulting in differential gene expression. In this study, we investigated the role in pigmentation and sun-sensitivity traits, as well as in melanoma susceptibility, of 38 different 3'UTR SNPs from 38 pigmentation-related genes. A total of 869 individuals of Spanish origin (526 melanoma cases and 343 controls) were analysed.…

0301 basic medicineSkin NeoplasmsSNPSingle-nucleotide polymorphismSkin PigmentationDermatologyBiologyBiochemistryPolymorphism Single NucleotideWhite People03 medical and health sciencesGene FrequencyRisk FactorsWnt3A ProteinmicroRNAGene expressionGenotypeSNPHumansGenetic Predisposition to DiseasePhotosensitivity DisordersRNA MessengerHair ColorNaevusMolecular BiologyGene3' Untranslated RegionsMelanomaSolar lentiginesAdaptor Proteins Signal TransducingGeneticsLentigoBinding SitesEye ColorThree prime untranslated regionMicroRNAProtective Factors3' untranslated regionPhenotypeMicroRNAs030104 developmental biologyPhenotypeSpainCase-Control Studies
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Pressure effects on α-synuclein amyloid fibrils: An experimental investigation on their dissociation and reversible nature

2017

α–synuclein amyloid fibrils are found in surviving neurons of Parkinson's disease affected patients, but the role they play in the disease development is still under debate. A growing number of evidences points to soluble oligomers as the major cytotoxic species, while insoluble fibrillar aggregates could even play a protection role. In this work, we investigate α–synuclein fibrils dissociation induced at high pressure by means of Small Angle X-ray Scattering and Fourier Transform Infrared Spectroscopy. Fibrils were produced from wild type α–synuclein and two familial mutants, A30P and A53T. Our results enlighten the different reversible nature of α–synuclein fibrils fragmentati…

0301 basic medicineSmall AngleAmyloidHigh-pressureMutantBiophysicsmacromolecular substances010402 general chemistryFibril01 natural sciencesBiochemistryDissociation (chemistry)Scattering03 medical and health scienceschemistry.chemical_compoundX-Ray DiffractionScattering Small AngleSpectroscopy Fourier Transform InfraredPressureHumansPoint MutationFourier transform infrared spectroscopyMolecular BiologySpectroscopyAlpha-synucleinAmyloid; FTIR; High-pressure; SAXS; α-synuclein; Amyloid; Humans; Parkinson Disease; Point Mutation; Pressure; Scattering Small Angle; Solubility; Spectroscopy Fourier Transform Infrared; X-Ray Diffraction; alpha-Synuclein; Biophysics; Biochemistry; Molecular BiologySmall-angle X-ray scatteringWild typeα-synucleinParkinson DiseaseSAXSAmyloid fibril0104 chemical sciences?-synucleinCrystallography030104 developmental biologyBiophysicchemistryFTIRSolubilityFourier Transform InfraredBiophysicsalpha-SynucleinHuman
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A Genome-Wide Association Study of Attention Function in a Population-Based Sample of Children

2016

BACKGROUND: Attention function filters and selects behaviorally relevant information. This capacity is impaired in some psychiatric disorders and has been proposed as an endophenotype for Attention-Deficit/Hyperactivity Disorder; however, its genetic basis remains largely unknown. This study aimed to identify single nucleotide polymorphism (SNPs) associated with attention function. MATERIALS AND METHODS: The discovery sample included 1655 children (7-12 years) and the replication sample included 546 children (5-8 years). Five attention outcomes were assessed using the computerized Attentional Network Test (ANT): alerting, orienting, executive attention, Hit Reaction time (HRT) and the stand…

0301 basic medicineSocial Scienceslcsh:MedicineGenome-wide association studyBioinformatics0302 clinical medicineHuman geneticsMedicine and Health SciencesMedicinePsychologyAttentionlcsh:ScienceSalut mentalMultidisciplinaryGenètica humanaNeurodegenerative DiseasesGenomicsAlzheimer's diseaseNeurologyResearch ArticleHiperactivitatImaging TechniquesInfants -- DesenvolupamentBrain Structure and FunctionSingle-nucleotide polymorphismNeuroimagingNeuropsychiatric DisordersResearch and Analysis Methods03 medical and health sciencesNeuroimagingDevelopmental NeuroscienceAlzheimer DiseaseMental Health and PsychiatryGenome-Wide Association StudiesGeneticsSNPAllelesbusiness.industrylcsh:RCognitive PsychologyBiology and Life SciencesComputational BiologyHuman GeneticsGenome AnalysisHuman genetics030104 developmental biologyMalaltia d'AlzheimerGenetic LociNeurodevelopmental DisordersEndophenotypeMultiple comparisons problemCognitive ScienceDementiaAdhdlcsh:Qbusiness030217 neurology & neurosurgeryNeuroscience
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