Search results for "TIP"

showing 10 items of 6351 documents

Achados orais na síndrome de williams-beuren

2017

Background: Williams-Beuren syndrome (WBS; OMIM #194050) is a developmental disorder characterized by congenital heart disease, intellectual disability, dysmorphic facial features and ophthalmologic abnormalities. Oral abnormalities are also described in clinical manifestations of the disease. This paper describes orofacial features in patients with WBS. Material and Methods: Seventeen patients with a confirmed molecular diagnosis of WBS were examined for oral abnormalities through clinical oral evaluations and panoramic radiography. Results: Malocclusion, specifically with dental midline deviation, and high-arched palate were the most common findings. Conclusions: The present results contr…

0301 basic medicineAdultMaleWilliams SyndromeSíndrome de Williams-BeurenPediatricsmedicine.medical_specialtycongenital hereditary and neonatal diseases and abnormalitiesHeart diseaseAdolescentAnomalias congénitasDiseaseOdontologiaCongenital abnormalities03 medical and health sciencesYoung Adult0302 clinical medicineQuality of lifeWilliams-Beuren syndromeIntellectual disabilitymedicineHumansAbnormalities Multiplecardiovascular diseasesYoung adultChildGeneral DentistryOral Medicine and Pathologybusiness.industryTooth AbnormalitiesResearch030206 dentistrymedicine.disease:CIENCIAS MÉDICAS [UNESCO]oral featuresDevelopmental disorderCaracterísticas orofaciaisstomatognathic diseases030104 developmental biologyOtorhinolaryngologyChild PreschoolUNESCO::CIENCIAS MÉDICASSurgeryFemaleWilliams syndromeMalocclusionbusinessMalocclusionMedicina oral, patologia oral y cirugia bucal
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Ocrelizumab Extended Interval Dosing in Multiple Sclerosis in Times of COVID-19.

2021

ObjectiveTo evaluate the clinical consequences of extended interval dosing (EID) of ocrelizumab in relapsing-remitting multiple sclerosis (RRMS) during the coronavirus disease 2019 (COVID-19) pandemic.MethodsIn our retrospective, multicenter cohort study, we compared patients with RRMS on EID (defined as ≥4-week delay of dose interval) with a control group on standard interval dosing (SID) at the same period (January to December 2020).ResultsThree hundred eighteen patients with RRMS were longitudinally evaluated in 5 German centers. One hundred sixteen patients received ocrelizumab on EID (median delay [interquartile range 8.68 [5.09–13.07] weeks). Three months after the last ocrelizumab in…

0301 basic medicineAdultMalemedicine.medical_specialty41Antigens CD19MedizinLogistic regressionAntibodies Monoclonal HumanizedArticle2303 medical and health sciencesDisability Evaluation0302 clinical medicineMultiple Sclerosis Relapsing-RemittingInterquartile rangeInternal medicinemedicineHumansDosingLymphocyte CountPandemicsRetrospective Studies360B-Lymphocytes120business.industryMultiple sclerosisCOVID-19Retrospective cohort studyMiddle Agedmedicine.diseaseMagnetic Resonance Imaging030104 developmental biologyTreatment OutcomeNeurologyCohortOcrelizumabFemaleNeurology (clinical)business030217 neurology & neurosurgerymedicine.drugCohort studyNeurology(R) neuroimmunologyneuroinflammation
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Vitamin D receptor polymorphisms and 25-hydroxyvitamin D in a group of Sicilian multiple sclerosis patients

2016

Multiple sclerosis (MS) is an auto-immune disease whose etiology remains controversial. Both genetic and environmental factors are thought to be involved in the risk of developing the disease. The purpose of our study was to assess the association of Vitamin D receptor (VDR) polymorphisms with MS and to investigate the interaction of these polymorphisms with vitamin D levels. A total of 179 Sicilian subjects, including 104 MS patients and 75 healthy controls, were studied. The most common VDR polymorphisms (Fok-I, Bsm-I, Taq-I and Apa-I) were genotyped by polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP) analyses in both groups and serum 25-hydroxyv…

0301 basic medicineAdultMalemedicine.medical_specialtyMultiple SclerosisGenotypeVDR polymorphismsDermatologyCalcitriol receptor25(OH)D; Multiple sclerosis; VDR polymorphisms; Vitamin D; Adult; Female; Gene Frequency; Genotype; Humans; Male; Middle Aged; Multiple Sclerosis; Receptors Calcitriol; Sicily; Vitamin D; Polymorphism Restriction Fragment Length03 medical and health sciences0302 clinical medicineGene FrequencyCalcitriolInternal medicineGenotypeReceptorsmedicineGenetic predispositionVitamin D and neurologyHumansMultiple sclerosiAlleleVitamin DPolymorphismAllele frequencySicilyVDR25(OH)Dbusiness.industryMultiple sclerosisGeneral MedicineMiddle Agedmedicine.diseaseVitamin D 25(OH)DPsychiatry and Mental healthSettore BIO/12 - Biochimica Clinica E Biologia Molecolare Clinica030104 developmental biologyEndocrinologyRestriction Fragment LengthImmunologyReceptors CalcitriolSettore MED/26 - NeurologiaFemaleNeurology (clinical)Restriction fragment length polymorphismbusiness030217 neurology & neurosurgeryPolymorphism Restriction Fragment Length
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CYP27A1, CYP24A1, and RXR-α Polymorphisms, Vitamin D, and Multiple Sclerosis: a Pilot Study.

2018

Multiple sclerosis (MS) is a neurodegenerative autoimmune disease resulting from a complex interaction of genetic and environmental factors. Hypovitaminosis D seems to contribute to MS susceptibility as both an environmental and a genetic risk factor. The aim of our study was to investigate the association of SNPs in CYP27A1, CYP24A1, and RXR- α genes, vitamin D status, and MS risk. We performed a nested case-control study on patients with multiple sclerosis and healthy controls. Serum 25(OH)D3 levels and genotyping of CYP27A1, CYP24A1, and RXR-α -SNPs were investigated both in MS patients and in healthy controls. Serum 25(OH)D3 levels were measured by a high-performance liquid chromatograp…

0301 basic medicineAdultMalemedicine.medical_specialtyMultiple SclerosisRXRSingle-nucleotide polymorphismPilot ProjectsPolymorphism Single Nucleotide03 medical and health sciencesCellular and Molecular Neuroscience0302 clinical medicineInternal medicineGenotypemedicineVitamin D and neurologyHumansVitamin DAlleleVitamin D3 24-HydroxylaseGenotypingAutoimmune disease25-Hydroxyvitamin D 2Retinoid X Receptor alphabusiness.industryMultiple sclerosisGeneral MedicineMiddle Agedmedicine.diseaseMinor allele frequencyCYP24A1030104 developmental biologyEndocrinologyCase-Control StudiesCYP27A1Cholestanetriol 26-MonooxygenaseFemalebusiness030217 neurology & neurosurgeryJournal of molecular neuroscience : MN
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Clinical implications of serum neurofilament in newly diagnosed MS patients: a longitudinal multicentre cohort study

2020

Abstract Background We aim to evaluate serum neurofilament light chain (sNfL), indicating neuroaxonal damage, as a biomarker at diagnosis in a large cohort of early multiple sclerosis (MS) patients. Methods In a multicentre prospective longitudinal observational cohort, patients with newly diagnosed relapsing-remitting MS (RRMS) or clinically isolated syndrome (CIS) were recruited between August 2010 and November 2015 in 22 centers. Clinical parameters, MRI, and sNfL levels (measured by single molecule array) were assessed at baseline and up to four-year follow-up. Findings Of 814 patients, 54.7% (445) were diagnosed with RRMS and 45.3% (369) with CIS when applying 2010 McDonald criteria (R…

0301 basic medicineAdultMalemedicine.medical_specialtyResearch paperClinical Decision-MakingIntermediate Filamentslcsh:Medicine610 Medicine & healthNewly diagnosedGeneral Biochemistry Genetics and Molecular BiologyMultiple sclerosis03 medical and health sciences0302 clinical medicineAtrophyMultiple Sclerosis Relapsing-RemittingNeurofilament ProteinsInternal medicineGermanymedicineHumansLongitudinal StudiesProspective Studiesddc:610610 Medicine & healthNeurofilament light chainlcsh:R5-920Clinically isolated syndromebusiness.industryMultiple sclerosislcsh:RMcDonald criteriaGeneral MedicineBiomarkermedicine.diseasesNfL030104 developmental biology030220 oncology & carcinogenesisCohortDisease ProgressionCommentaryBiomarker (medicine)Femalelcsh:Medicine (General)businessPredictionFunction and Dysfunction of the Nervous SystemBiomarkersCohort study
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Role of Haptoglobin as a Marker of Muscular Improvement in Patients with Multiple Sclerosis after Administration of Epigallocatechin Gallate and Incr…

2021

Here, we report on the role of haptoglobin (Hp), whose expression depends on the synthesis of interleukin 6 (IL-6), related to the pathogenesis of multiple sclerosis (MS), as a possible marker of muscle improvement achieved after treatment with the polyphenol epigallocatechin gallate (EGCG) and an increase in the ketone body beta-hydroxybutyrate (BHB) in the blood. After 4 months of intervention with 27 MS patients, we observed that Hp does not significantly increase, alongside a significant decrease in IL-6 and a significant increase in muscle percentage. At the same time, Hp synthesis is considerably and positively correlated with IL-6 both before and after treatment

0301 basic medicineAdultMalemedicine.medical_specialtyepigallocatechin gallateMultiple Sclerosisbeta-hydroxybutyratemuscleinterleukin 6Pilot ProjectsEpigallocatechin gallateMicrobiologyBiochemistryCatechinArticlePathogenesis03 medical and health scienceschemistry.chemical_compound0302 clinical medicineBeta hydroxybutyrateInternal medicinemedicineHumansIn patientInterleukin 6Muscle SkeletalMolecular Biologybiology3-Hydroxybutyric AcidHaptoglobinsbusiness.industryInterleukin-6Multiple sclerosisHaptoglobinfood and beveragesMiddle Agedmedicine.diseaseQR1-502haptoglobin030104 developmental biologyEndocrinologychemistrybiology.proteinKetone bodiesFemalebusiness030217 neurology & neurosurgeryBiomarkersBiomolecules
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Microglia in Alzheimer’s Disease: Activated, Dysfunctional or Degenerative

2018

Microglial activation has been considered a crucial player in the pathological process of multiple human neurodegenerative diseases. In some of these pathologies, such as Amyotrophic Lateral Sclerosis or Multiple Sclerosis, the immune system and microglial cells (as part of the cerebral immunity) play a central role. In other degenerative processes, such as Alzheimer’s disease (AD), the role of microglia is far to be elucidated. In this “mini-review” article, we briefly highlight our recent data comparing the microglial response between amyloidogenic transgenic models, such as APP/PS1 and AD patients. Since the AD pathology could display regional heterogeneity, we focus our work at the hipp…

0301 basic medicineAgingMini ReviewCognitive NeuroscienceAPP modelsmicrogliainflamationDegeneration (medical)Hippocampal formationlcsh:RC321-57103 medical and health sciences0302 clinical medicineImmune systemmedicineAmyotrophic lateral sclerosislcsh:Neurosciences. Biological psychiatry. NeuropsychiatryMicrogliabusiness.industryMultiple sclerosisDentate gyrusmedicine.disease030104 developmental biologymedicine.anatomical_structureAbeta plaquesMicrogliaAlzheimer diseaseAlzheimer's diseasebusinessInflamationNeuroscience030217 neurology & neurosurgeryNeuroscienceFrontiers in Aging Neuroscience
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Identification of Candida auris and related species by multiplex PCR based on unique GPI protein‐encoding genes

2020

Background The pathogen Candida auris is rapidly gaining clinical importance because of its resistance to antifungal treatments and its persistence in hospital environments. Early and accurate diagnosis of C. auris infections is crucial, however, the fungus has often been misidentified by commercial systems. Objectives To develop conventional and real-time PCR methods for accurate and rapid identification of C. auris and its discrimination from closely related species by exploiting the uniqueness of certain glycosylphosphatidylinositol-modified protein-encoding genes. Methods Species-specific primers for two unique putative GPI protein-encoding genes per species were designed for C. auris, …

0301 basic medicineAntifungal AgentsGlycosylphosphatidylinositolsGenes Fungal030106 microbiologyDermatologyBiologyReal-Time Polymerase Chain ReactionFungal Proteins030207 dermatology & venereal diseases03 medical and health sciences0302 clinical medicineSpecies SpecificityMultiplex polymerase chain reactionHumansMultiplexMycological Typing TechniquesGenePathogenCandidaDNA PrimersGeneticsCandidiasisReproducibility of ResultsGeneral MedicineAmpliconCorpus albicansInfectious DiseasesCandida aurisIndansIdentification (biology)Multiplex Polymerase Chain ReactionMycoses
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Synthesis and antitumor activities of 1,2,3-triazines and their benzo- and heterofused derivatives

2017

1,2,3-Triazines are a class of biologically active compounds that exhibit a broad spectrum of activities, including antibacterial, antifungal, antiviral, antiproliferative, analgesic and anti-inflammatory properties. This review, which covers the literature from the end of last century to 2016, treats, through a comprehensive, systematic approach, the 1,2,3-triazine and related benzo- and hetero-fused derivatives possessing antitumor activity. Their efficacy, combined with a simple synthesis confers to these molecules a great potential as scaffold for the development of antitumor compounds.

0301 basic medicineAntifungalModels MolecularHetero-fused 1123-Triazines Benzo[123]triazines Hetero-fused 123-triazines Antiproliferative activity Antitumor activity Nitrogen heterocyclesStereochemistrymedicine.drug_class12Antineoplastic AgentsChemistry Techniques SyntheticAntiproliferative activity01 natural sciences03 medical and health sciencesBroad spectrumNeoplasmsDrug DiscoverymedicineBenzene DerivativesAnimalsHumans3]triazinesPharmacologyAntitumor activity3-triazines1; 2; 3-Triazines; Benzo[1; 2; 3]triazines; Hetero-fused 1; 2; 3-triazines; Antiproliferative activity; Antitumor activity; Nitrogen heterocyclesBenzo[1ChemistryTriazinesNitrogen heterocyclesOrganic ChemistryBiological activityGeneral MedicineSettore CHIM/08 - Chimica FarmaceuticaCombinatorial chemistry0104 chemical sciences010404 medicinal & biomolecular chemistry030104 developmental biologyAntitumor activity
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Antiproliferative Effect of Bioaccessible Fractions of Four Brassicaceae Microgreens on Human Colon Cancer Cells Linked to Their Phytochemical Compos…

2020

The antiproliferative effect of the bioaccessible fractions (BFs) of four hydroponic Brassicaceae microgreens (broccoli, kale, mustard and radish) was evaluated on colon cancer Caco-2 cells vs. normal colon CCD18-Co cells after 24 h treatment with BFs diluted 1:10 v/v in cell culture medium. Their bioactivity was compared with the digestion blank, while the colon cancer chemotherapeutic drug 5-fluorouracil was used as a positive control. Cell viability (mitochondrial enzyme activity assay (MTT test) and Trypan blue test) and mechanisms related to antiproliferative activity (cell cycle, apoptosis/necrosis, mitochondrial membrane potential, reactive oxygen species (ROS) production, Ca2+ and g…

0301 basic medicineAntioxidantPhysiologymedicine.medical_treatmentClinical BiochemistryBrassicaPharmacologyBiochemistryArticle03 medical and health scienceschemistry.chemical_compoundmedicineViability assayCaco-2 cellsMolecular Biologychemistry.chemical_classificationReactive oxygen species030109 nutrition & dieteticsMicrogreenslcsh:RM1-950bioaccessible fractionsCell BiologyGlutathioneAscorbic acidMicrogreen030104 developmental biologylcsh:Therapeutics. Pharmacologyantiproliferative effectchemistrycolon cancerApoptosis<i>Brassica</i>Trypan blueAntioxidants
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