Search results for "RCA"

showing 10 items of 3171 documents

Hereditary prostate cancer – Primetime for genetic testing?

2019

Prostate cancer (PCa) remains the most common cancer in men. The proportion of all PCa attributable to high-risk hereditary factors has been estimated to 5-15%. Recent landmark discoveries in PCa genetics led to the identification of germline mutations/alterations (eg. BRCA1, BRCA2, ATM or HOXB13), single nucleotide polymorphisms or copy number variations associated with PCa incidence and progression. However, offering germline testing to men with an assumed hereditary component is currently controversial. In the present review article, we provide an overview about the epidemiology and the genetic basis of PCa predisposition and critically discuss the significance and consequence in the cli…

0301 basic medicineMaleGenetic testingDNA Copy Number VariationsGenome-wide association studySingle-nucleotide polymorphismDiseaseBioinformaticsPolymorphism Single Nucleotide03 medical and health sciencesProstate cancer0302 clinical medicineGermline mutationMedicineHumansRadiology Nuclear Medicine and imagingGenetic Predisposition to DiseaseCopy-number variationGenetic TestingPrecision MedicineGenetic testingBRCA2 ProteinHomeodomain ProteinsClinical Trials as TopicProstate cancermedicine.diagnostic_testbusiness.industryBRCA1 ProteinCancerProstatic NeoplasmsPrecision oncologyGeneral Medicinemedicine.diseaseCheckpoint Kinase 2030104 developmental biologyHereditaryOncology030220 oncology & carcinogenesisMutationbusiness
researchProduct

A possible role of FANCM mutations in male breast cancer susceptibility: Results from a multicenter study in Italy

2018

Abstract Introduction Breast cancer (BC) in men is a rare disease, whose etiology appears to be associated with genetic factors. Inherited mutations in BRCA1/2 genes account for about 10–15% of all cases. FANCM, functionally linked to BRCA1/2, has been suggested as a novel BC susceptibility gene. Our aim was to test if FANCM germline mutations could further explain male BC (MBC) susceptibility. Methods We screened the entire coding region of FANCM in 286 MBCs by a multi-gene panel analysis, and compared these data with available whole exome sequencing data from 415 men used as population controls. Moreover, we genotyped the two most frequent FANCM mutations (c.5101C>T and c.5791C>T) in 506 …

0301 basic medicineMaleMutation rateSettore MED/06 - Oncologia MedicaDNA Helicasemedicine.disease_causeBRCA1/2; Breast cancer susceptibility; FANCM; Germline mutations; Male breast cancer; Adult; Aged; Aged 80 and over; Biomarkers Tumor; Breast Neoplasms Male; Case-Control Studies; DNA Helicases; Genetic Predisposition to Disease; Genotype; Germ-Line Mutation; Humans; Italy; Male; Middle Aged; Risk Factors; Whole Genome Sequencing; Young Adult; Surgery0302 clinical medicineFANCMRisk Factorshemic and lymphatic diseasesGermline mutationGenotypeBRCA1/2; Breast cancer susceptibility; FANCM; Germline mutations; Male breast cancer; SurgeryFANCMMutation frequencyGeneticsAged 80 and overeducation.field_of_studyMutationGeneral MedicineMiddle AgedItaly030220 oncology & carcinogenesisMale breast cancerCase-Control StudieHumanAdultcongenital hereditary and neonatal diseases and abnormalitiesGenotypePopulationBreast Neoplasms Male03 medical and health sciencesYoung AdultGermline mutationBRCA1/2medicineBiomarkers TumorHumansGenetic Predisposition to DiseaseeducationGermline mutationsGerm-Line MutationAgedBreast cancer susceptibilityWhole Genome Sequencingbusiness.industryRisk FactorDNA Helicasesnutritional and metabolic diseasesmedicine.diseaseMale breast cancer030104 developmental biologyCase-Control StudiesSurgerybusiness
researchProduct

Circadian and Dopaminergic Regulation of Fatty Acid Oxidation Pathway Genes in Retina and Photoreceptor Cells.

2016

The energy metabolism of the retina might comply with daily changes in energy demand and is impaired in diabetic retinopathy-one of the most common causes of blindness in Europe and the USA. The aim of this study was to investigate putative adaptation of energy metabolism in healthy and diabetic retina. Hence expression analysis of metabolic pathway genes was performed using quantitative polymerase chain reaction, semi-quantitative western blot and immunohistochemistry. Transcriptional profiling of key enzymes of energy metabolism identified transcripts of mitochondrial fatty acid β-oxidation enzymes, i.e. carnitine palmitoyltransferase-1α (Cpt-1α) and medium chain acyl-CoA dehydrogenase (A…

0301 basic medicineMalePhysiologyDopamineMice ObeseGene Expressionlcsh:MedicineBiochemistryAcyl-CoA DehydrogenaseMice0302 clinical medicineCatecholaminesEndocrinologyMedicine and Health SciencesAminesEnzyme Chemistrylcsh:ScienceBeta oxidationMice KnockoutMice Inbred C3HMultidisciplinaryOrganic CompoundsDopaminergicFatty AcidsNeurochemistryDiabetic retinopathyNeurotransmittersCircadian RhythmChemistryCircadian Oscillatorsmedicine.anatomical_structurePhysical SciencesFemaleAnatomyOxidation-Reductionmedicine.drugResearch Articlemedicine.medical_specialtyBiogenic AminesEndocrine DisordersOcular AnatomyBiologyRetinaEnzyme Regulation03 medical and health sciencesOcular SystemInternal medicinemedicineGeneticsDiabetes MellitusAnimalsPhotoreceptor CellsGene RegulationCircadian rhythmCarnitineACADMRetinaDiabetic RetinopathyCarnitine O-PalmitoyltransferaseReceptor Melatonin MT1Receptors Dopamine D4Organic Chemistrylcsh:RChemical CompoundsBiology and Life Sciencesmedicine.diseaseHormonesMice Inbred C57BLMetabolic pathwayDisease Models Animal030104 developmental biologyEndocrinologyMetabolismMicroscopy FluorescenceMetabolic DisordersEnzymologylcsh:Qsense organsEnergy MetabolismPhysiological ProcessesChronobiology030217 neurology & neurosurgeryNeurosciencePLoS ONE
researchProduct

Morphologic variations in the pineal gland of the albino rat after a chronic alcoholisation process.

2018

We studied the effect of alcohol on the pineal gland of 48 male Wistar rats. Animals were divided into control and experimental groups. The experimental group underwent a previous progressive alcoholisation period with ethanol diluted in water at a concentration of 40%. Animals were sacrificed at 3, 6, 9 and 12 months, and the ultrastructure, karyometric indices, and number of synaptic bodies in the pineal gland were analysed. The results showed progressive morphologic alterations in the ethanol-treated animals, which culminated in fatty degeneration of the pineal parenchyma after 6 months. The karyometric indices decreased in both the central and peripheral areas compared with the control …

0301 basic medicineMalemedicine.medical_specialtyPeriod (gene)BiologyPineal ParenchymaPineal Gland03 medical and health sciencesPineal gland0302 clinical medicineMicroscopy Electron TransmissionInternal medicinemedicineAnimalsCircadian rhythmRats WistarEthanolCentral Nervous System DepressantsCell BiologyGeneral MedicineChronic alcoholCircadian RhythmRats030104 developmental biologymedicine.anatomical_structureEndocrinologyUltrastructure030217 neurology & neurosurgeryDevelopmental BiologyTissuecell
researchProduct

Lorcaserin bidirectionally regulates dopaminergic function site-dependently and disrupts dopamine brain area correlations in rats

2020

Abstract Lorcaserin, which is a selective agonist of serotonin2C receptors (5-HT2CRs), is a new FDA-approved anti-obesity drug that has also shown therapeutic promise in other brain disorders, such as addiction and epilepsy. The modulation of dopaminergic function might be critical in the therapeutic effect of lorcaserin, but its exact effect is unknown. Here, we studied the effect of the peripheral administration of lorcaserin on the ventral tegmental area (VTA), the substantia nigra pars compacta (SNc) dopaminergic neural activity, dopamine (DA) dialysis levels in the nucleus accumbens and striatum and on DA tissue levels in 29 different rat brain regions. Lorcaserin (5–640 μg/kg, i.v.) m…

0301 basic medicineMalemedicine.medical_specialtySerotoninDopamineSubstantia nigraStriatumNucleus accumbensSettore BIO/09 - FisiologiaLorcaserinIntracerebral microdialysisRats Sprague-DawleyDose-Response Relationship03 medical and health sciencesCellular and Molecular Neuroscience0302 clinical medicineSingle cell extracellular recordingsRewardDopamineInternal medicineReceptor Serotonin 5-HT2CmedicineAnimals5-HT2CObesityPharmacologyDose-Response Relationship DrugPars compactaChemistryDopaminergic NeuronsDopaminergicBrainNeurochemistryBenzazepinesSerotonin2C receptorRatsVentral tegmental area030104 developmental biologyEndocrinologymedicine.anatomical_structurenervous systemSprague-DawleyDrugIntracerebral microdialysis; Neurochemistry; Obesity; Reward; Serotonin2C receptor; Single cell extracellular recordings; Animals; Benzazepines; Brain; Dopamine; Dopaminergic Neurons; Dose-Response Relationship Drug; Male; Rats; Rats Sprague-Dawley; Receptor Serotonin 5-HT2C; Serotonin 5-HT2 Receptor AgonistsIntracerebral microdialysi030217 neurology & neurosurgerySerotonin 5-HT2 Receptor Agonistsmedicine.drugReceptor
researchProduct

Emerging switchable ultraviolet photoluminescence in dehydrated Zn/Al layered double hydroxide nanoplatelets

2019

AbstractLayered double hydroxides show intriguing physical and chemical properties arising by their intrinsic self-assembled stacking of molecular-thick 2D nanosheets, enhanced active surface area, hosting of guest species by intercalation and anion exchanging capabilities. Here, we report on the unprecedented emerging intense ultraviolet photoluminescence in Zn/Al layered double hydroxide high-aspect-ratio nanoplatelets, which we discovered to be fully activated by drying under vacuum condition and thermal desorption as well. Photoluminescence and its quenching were reproducibly switched by a dehydration–hydration process. Photoluminescence properties were comprehensively evaluated, such a…

0301 basic medicineMaterials sciencePhotoluminescenceCoprecipitationIntercalation (chemistry)Thermal desorptionlcsh:Medicineswitchable ultraviolet photoluminescenceengineering.materialTwo-dimensional materialsArticle03 medical and health scienceschemistry.chemical_compound0302 clinical medicine2D materials Layered Double Hydroxides Photoluminescence Vacuumlcsh:ScienceQuenchingMultidisciplinaryZn/Al layered double hydroxideX-ray Diffractionlcsh:RSettore FIS/01 - Fisica SperimentaleLayered double hydroxidesExfoliation joint030104 developmental biologychemistryChemical engineeringengineeringHydroxidelcsh:Q030217 neurology & neurosurgeryScientific Reports
researchProduct

Advances in Integrating Traditional and Omic Biomarkers When Analyzing the Effects of the Mediterranean Diet Intervention in Cardiovascular Prevention

2016

Intervention with Mediterranean diet (MedDiet) has provided a high level of evidence in primary prevention of cardiovascular events. Besides enhancing protection from classical risk factors, an improvement has also been described in a number of non-classical ones. Benefits have been reported on biomarkers of oxidation, inflammation, cellular adhesion, adipokine production, and pro-thrombotic state. Although the benefits of the MedDiet have been attributed to its richness in antioxidants, the mechanisms by which it exercises its beneficial effects are not well known. It is thought that the integration of omics including genomics, transcriptomics, epigenomics, and metabolomics, into studies a…

0301 basic medicineMediterranean dietGene-diet interactionsAdipokineOmicsGenomicsReview030204 cardiovascular system & hematologyBiologyBioinformaticsDiet MediterraneanCardiovascularCatalysislcsh:ChemistryInorganic Chemistry03 medical and health sciences0302 clinical medicineMetabolomics:Ciencias de la Salud::Medicina preventiva [Materias Investigacion]Mediterranean dietMetabolomeAnimalsHumansPhysical and Theoretical Chemistrylcsh:QH301-705.5Molecular BiologyDieta -- Mediterrània Regió de laSpectroscopyEpigenomicsGenomecardiovascularOrganic ChemistrybiomarkersGeneral MedicineEvidence-based medicineOmicsgene-diet interactionsComputer Science ApplicationsomicsSistema cardiovascular -- Malalties -- Prevenció030104 developmental biologylcsh:Biology (General)lcsh:QD1-999Cardiovascular DiseasesMarcadors bioquímicsMetabolomeBiomarkers
researchProduct

Viability RT-qPCR to Distinguish Between HEV and HAV With Intact and Altered Capsids

2018

The hepatitis E virus (HEV) is an emerging pathogen showing a considerable increase in the number of reported cases in Europe mainly related to the ingestion of contaminated food. As with other relevant viral foodborne pathogens, real-time reverse transcriptase polymerase chain reaction (RT-qPCR) is the gold standard for HEV detection in clinical, food, and environmental samples, but these procedures cannot discriminate between inactivated and potentially infectious viruses. Thus, the aim of this study was to develop a viability PCR method to discriminate between native, heat-, and high-pressure processing (HPP)-treated HEV using the hepatitis A virus (HAV) as a cultivable surrogate. To thi…

0301 basic medicineMicrobiology (medical)viruses030106 microbiologylcsh:QR1-502viability RT-qPCRBiologymedicine.disease_causeMicrobiologylcsh:Microbiologylaw.invention03 medical and health sciencesHepatitis E viruslawmedicineIngestionPolymerase chain reactionOriginal ResearchInfectivitybusiness.industryfoodborne virusGold standard (test)Food safetyVirologyReverse transcriptaseHAVfood safety030104 developmental biologyCapsidHEVbusinessintercalating dyeFrontiers in Microbiology
researchProduct

The substitution rate of HIV-1 subtypes: a genomic approach

2017

Abstract HIV-1M causes most infections in the AIDS pandemic. Its genetic diversity is defined by nine pure subtypes and more than sixty recombinant forms. We have performed a comparative analysis of the evolutionary rate of five pure subtypes (A1, B, C, D, and G) and two circulating recombinant forms (CRF01_AE and CRF02 AG) using data obtained from nearly complete genome coding sequences. Times to the most recent common ancestor (tMRCA) and substitution rates of these HIV genomes, and their genomic partitions, were estimated by Bayesian coalescent analyses. Genomic substitution rate estimates were compared between the HIV-1 datasets analyzed by means of randomization tests. Significant diff…

0301 basic medicineMost recent common ancestor030106 microbiologyBiologyrelaxed molecular clockMicrobiologyGenomeCoalescent theory03 medical and health sciencesBayesian skyline plotVirologyMolecular clockEvolutionary dynamicsGeneGeneticsGenetic diversityBEASTvirus diseasessubstitution rateVirusGenòmica030104 developmental biologyHIV-1Rate of evolutiontMRCAResearch ArticleVirus Evolution
researchProduct

Brain anatomy of the 4‐day‐old European rabbit

2018

International audience; The European rabbit (Oryctolagus cuniculus) is a widely used model in fundamental, medical and veterinary neurosciences. Besides investigations in adults, rabbit pups are relevant to study perinatal neurodevelopment and early behaviour. To date, the rabbit is also the only species in which a pheromone - the mammary pheromone (MP) - emitted by lactating females and active on neonatal adaptation has been described. The MP is crucial since it contributes directly to nipple localisation and oral seizing in neonates, i.e. to their sucking success. It may also be one of the non-photic cues arising from the mother, which stimulates synchronisation of the circadian system du…

0301 basic medicineOlfactory systemHistologymedia_common.quotation_subjectSensory systemolfactory systemBiologyArousalmemory03 medical and health sciences0302 clinical medicinenewbornPerceptionbiology.domesticated_animalCircadian rhythmMolecular Biologylimbic regionsEcology Evolution Behavior and SystematicsComputingMilieux_MISCELLANEOUSEuropean rabbitmedia_common[SCCO.NEUR]Cognitive science/NeuroscienceCell BiologyOriginal ArticlesAnticipation030104 developmental biologyAnatomyAdaptationEuropean rabbitsocial and feeding behaviourNeurosciencebrain anatomy030217 neurology & neurosurgeryDevelopmental Biology
researchProduct