Search results for "rema"

showing 10 items of 911 documents

Maternal DNA lineages at the gate of Europe in the 10th century AD

2018

Given the paucity of archaeogenetic data available for medieval European populations in comparison to other historical periods, the genetic landscape of this age appears as a puzzle of dispersed, small, known pieces. In particular, Southeastern Europe has been scarcely investigated to date. In this paper, we report the study of mitochondrial DNA in 10th century AD human samples from Capidava necropolis, located in Dobruja (Southeastern Romania, Southeastern Europe). This geographical region is particularly interesting because of the extensive population flux following diverse migration routes, and the complex interactions between distinct population groups during the medieval period. We suc…

0301 basic medicineEuropean PeopleremainsHeredityPopulation geneticslcsh:Medicinepopulation030105 genetics & heredityBiochemistryHaplogroupGeographical Locationscontaminationmitochondrial-dnaEthnicitieslcsh:SciencePhylogenymtDNA control regionPrincipal Component Analysiseducation.field_of_studyMultidisciplinaryGeographyHigh-Throughput Nucleotide SequencingPaleogeneticscontrol regionMitochondrial DNAEuropeNucleic acidsGenetic MappingPhylogeographyGeographyArchaeologyBiogeographyRomanian PeopleGenetic structurehistoryResearch ArticleMitochondrial DNAancient DNA mitochondrial DNA population genetics Romania Capidava medieval necropolisForms of DNAPopulationNear-EasternDNA MitochondrialBone and BonesWhite Peoplediversity03 medical and health sciencesgenetic affinitiesGeneticsHumanseducationEvolutionary BiologyBiology and life sciencesPopulation BiologyRomaniaEcology and Environmental Scienceslcsh:RPaleontologySequence Analysis DNADNAsequenceHistory MedievalPhylogeographyGenetics Population030104 developmental biologyHaplotypesEvolutionary biologyPeople and PlacesEarth SciencesHaplogroupsPopulation Groupingslcsh:QPaleogeneticsPopulation Genetics
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Inhibition of DNA damage response at telomeres improves the detrimental phenotypes of Hutchinson–Gilford Progeria Syndrome

2019

Hutchinson–Gilford progeria syndrome (HGPS) is a genetic disorder characterized by premature aging features. Cells from HGPS patients express progerin, a truncated form of Lamin A, which perturbs cellular homeostasis leading to nuclear shape alterations, genome instability, heterochromatin loss, telomere dysfunction and premature entry into cellular senescence. Recently, we reported that telomere dysfunction induces the transcription of telomeric non-coding RNAs (tncRNAs) which control the DNA damage response (DDR) at dysfunctional telomeres. Here we show that progerin-induced telomere dysfunction induces the transcription of tncRNAs. Their functional inhibition by sequence-specific telomer…

0301 basic medicineGenome instabilityRNA UntranslatedDNA RepairGeneral Physics and AstronomyCellular homeostasisAntisense oligonucleotide therapyMice0302 clinical medicineProgeriaHomeostasislcsh:ScienceCellular SenescenceSkinProgeriaMultidisciplinaryintegumentary systemQTelomereProgerinLamin Type A3. Good healthCell biologyTelomeresPhenotypePremature agingcongenital hereditary and neonatal diseases and abnormalitiesDNA repairScienceDouble-strand DNA breaksBiologySettore MED/08 - Anatomia PatologicaGeneral Biochemistry Genetics and Molecular BiologyArticleCell Line03 medical and health sciencesmedicineDNA damage Hutchinson-Gilford Progeria SyndromeAnimalsCell Proliferationnutritional and metabolic diseasesGeneral ChemistryOligonucleotides Antisensemedicine.diseaseTelomereDisease Models Animal030104 developmental biologyMutationlcsh:Q030217 neurology & neurosurgeryLaminDNA DamageNature Communications
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Frailty Quantified by the "Valencia Score" as a Potential Predictor of Lifespan in Mice.

2017

The development of frailty scores suitable for mice and which resemble those used in the clinical scenario is of great importance to understand human frailty. The aim of the study was to determine an individual frailty score for each mouse at different ages and analyze the association between the frailty score and its lifespan. For this purpose, the "Valencia Score" for frailty was used. Thus, a longitudinal study in mice was performed analyzing weight loss, running time and speed, grip strength and motor coordination at the late-adult, mature and old ages (40, 56 and 80 weeks old, respectively). These parameters are equivalent to unintentional weight loss, poor endurance, slowness, weaknes…

0301 basic medicineGerontologyWeaknessLongitudinal studyAgingFrail ElderlyLongevityHealthy Aging03 medical and health sciencesGrip strengthMice0302 clinical medicineWeight lossWeight LossmedicineAnimalsHumansLongitudinal StudiesMaze LearningClinical scenarioGeriatric AssessmentAgedMice Inbred ICRFrailtyHand Strengthbusiness.industryLow activityAging PrematureRunning timeMotor coordination030104 developmental biologyPhenotypeModels AnimalPhysical EnduranceFemaleGeriatrics and Gerontologymedicine.symptombusiness030217 neurology & neurosurgeryThe journals of gerontology. Series A, Biological sciences and medical sciences
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In vivo fluorescent cercariae reveal the entry portals of Cardiocephaloides longicollis (Rudolphi, 1819) Dubois, 1982 (Strigeidae) into the gilthead …

2019

Background Despite their complex life-cycles involving various types of hosts and free-living stages, digenean trematodes are becoming recurrent model systems. The infection and penetration strategy of the larval stages, i.e. cercariae, into the fish host is poorly understood and information regarding their entry portals is not well-known for most species. Cardiocephaloides longicollis (Rudolphi, 1819) Dubois, 1982 (Digenea, Strigeidae) uses the gilthead seabream (Sparus aurata L.), an important marine fish in Mediterranean aquaculture, as a second intermediate host, where they encyst in the brain as metacercariae. Labelling the cercariae with in vivo fluorescent dyes helped us to track the…

0301 basic medicineGillCardiocephaloides longicollis030231 tropical medicineSuccinimidesZoologyAquacultureTrematode InfectionsCarboxyfluorescein diacetate succinimidyl esterDigeneaHost-Parasite Interactionslcsh:Infectious and parasitic diseasesFish Diseases03 medical and health scienceschemistry.chemical_compound0302 clinical medicineCercarial penetration patternCercarial survival and activityMetacercarial encystmentAnimalsHelminthsMetacercariaelcsh:RC109-216CercariaCardiocephaloides longicollisFluorescent DyesInfectivityLife Cycle StagesbiologyResearchIntermediate hostAquatic animalFluoresceinsbiology.organism_classificationSea Bream030104 developmental biologyInfectious DiseaseschemistryLarvaBenzimidazolesParasitologyTrematodaDigeneaParasites & Vectors
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Blood fluke diseases in Pagellus spp. (Sparidae): Pathology and description of a new species of Skoulekia in the blackspot seabream P. bogaraveo (Brü…

2018

Abstract Pagellus bogaraveo (Brunnich) and P. erythrinus (L.) (Perciformes, Sparidae) are highly appreciated by Mediterranean consumers and good candidates for the Mediterranean aquaculture diversification. Parasitological and histological analyses of both sparid species, collected off Santa Pola (Spanish Mediterranean), have been performed in order to detect blood flukes (Trematoda, Aporocotylidae) and the pathologies related to their presence in these valuable hosts. Eggs of two different species of Skoulekia Alama-Bermejo, Montero, Raga and Holzer, 2011 have been found in both fishes: S. erythrini Palacios-Abella, Georgieva, Mele, Raga, Isbert, Kostadinova and Montero, 2017 in P. erythri…

0301 basic medicineGillSparidaebiologyBlackspot seabreamZoologyPagellusAquatic animalAquatic Sciencebiology.organism_classificationPerciformesErythrinus03 medical and health sciences030104 developmental biologyTrematodaAquaculture
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Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation

2020

Abstract Background Persistent neonatal hypoglycemia, owing to the possibility of severe neurodevelopmental consequences, is a leading cause of neonatal care admission. Hyperinsulinemic hypoglycemia is often resistant to dextrose infusion and needs rapid diagnosis and treatment. Several congenital conditions, from single gene defects to genetic syndromes should be considered in the diagnostic approach. Kabuki syndrome type 1 (MIM# 147920) and Kabuki syndrome type 2 (MIM# 300867), can be associated with neonatal hyperinsulinemic hypoglycemia. Patient presentation We report a female Italian (Sicilian) child, born preterm at 35 weeks gestation, with persistent hypoglycemia. Peculiar facial dys…

0301 basic medicineHeterozygotePediatricsmedicine.medical_specialtyFacial dysmorphismNeonatal hypotoniaCase ReportHypoglycemiamedicine.disease_causeDiagnosis DifferentialNervous system malformation03 medical and health sciences0302 clinical medicineHyperinsulinismmedicineHumansAbnormalities MultipleHyperinsulinemic hypoglycemiaPathologicalbusiness.industryNeonatal hypoglycemiaInfant Newbornlcsh:RJ1-570lcsh:Pediatricsmedicine.diseaseHematologic DiseasesNeoplasm ProteinsDNA-Binding ProteinsPhenotype030104 developmental biologyNeonatal hypotoniaItalyVestibular DiseasesFaceMutationGestationFemalebusinessHyperinsulinismKabuki syndromeInfant PrematureNeonatal hypoglycemia030217 neurology & neurosurgeryItalian Journal of Pediatrics
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The cyto-protective effects of LH on ovarian reserve and female fertility during exposure to gonadotoxic alkylating agents in an adult mouse model.

2021

Abstract STUDY QUESTION Does LH protect mouse oocytes and female fertility from alkylating chemotherapy? SUMMARY ANSWER LH treatment before and during chemotherapy prevents detrimental effects on follicles and reproductive lifespan. WHAT IS KNOWN ALREADY Chemotherapies can damage the ovary, resulting in premature ovarian failure and reduced fertility in cancer survivors. LH was recently suggested to protect prepubertal mouse follicles from chemotoxic effects of cisplatin treatment. STUDY DESIGN, SIZE, DURATION This experimental study investigated LH effects on primordial follicles exposed to chemotherapy. Seven-week-old CD-1 female mice were randomly allocated to four experimental groups: C…

0301 basic medicineLHAlkylating Agentsfertility preservationmedia_common.quotation_subjectDNA repair LH cancer chemotherapy fertility preservation follicle protection ovoprotectionDNA repairOvaryMice SCIDBiologychemotherapyAndrology03 medical and health sciencesMice0302 clinical medicineOvarian FollicleMice Inbred NODPregnancyFollicular phasemedicineAnimalsHumanscancerFertility preservationOvarian follicleOvarian reserveOvarian ReserveOvulationmedia_commonReproductive Biology030219 obstetrics & reproductive medicineRehabilitationObstetrics and GynecologyOriginal ArticlesOocytemedicine.diseaseAcademicSubjects/MED00905Premature ovarian failure030104 developmental biologymedicine.anatomical_structureReproductive Medicinefollicle protectionovoprotectionlipids (amino acids peptides and proteins)FemaleHuman reproduction (Oxford, England)
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Apnea events in neonatal age: A case report and literature review.

2019

Abstract Background Among the most common autonomic signs visible in preterm neonates, apnea can represent the first sign of several neurologic and non-neurologic disorders, and seizure is a relatively infrequent cause. Herein authors present a case of neonatal autonomic apnea, discussing the polygraphic video-EEG features of this pathological entity and the differential diagnosis with central apnea and autonomic apnea. Case report A female preterm Caucasian infant (29 + 4 weeks' gestational age (GA)), first twin of a twin pregnancy, at birth was intubated and surfactant administration was performed. She was ventilated via invasive ventilation for three days, with subsequent weaning with no…

0301 basic medicineLevetiracetamCentral apneaVideo RecordingDiseasesInfant Premature Diseases0302 clinical medicinenewbornDiagnosisHypoxiaApneaSleep apneaGestational ageElectroencephalographyGeneral MedicineSleep Apnea CentralAnesthesiaNervous System Diseases; Bradycardia; Cyanosis; Diagnosis Differential; Humans; Hypoxia; Infant Newborn; Infant Premature; Infant Premature Diseases; ; Sleep ApneaBreathingAnticonvulsantsFemalemedicine.symptomInfant PrematureBradycardiaSleep ApneaContext (language use)Gestational AgeNODiagnosis Differential03 medical and health sciencesSeizuresHeart ratemedicineBradycardiaDiseases in TwinsHumansPrematureCyanosisbusiness.industryInfant NewbornInfantapneamedicine.disease030104 developmental biologyAutonomic Nervous System DiseasesDifferentialNervous System Diseasesbusinesspreterm030217 neurology & neurosurgeryneurologic disorders
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Gut Microbiome Developmental Patterns in Early Life of Preterm Infants: Impacts of Feeding and Gender.

2015

Gut microbiota plays a key role in multiple aspects of human health and disease, particularly in early life. Distortions of the gut microbiota have been found to correlate with fatal diseases in preterm infants, however, developmental patterns of gut microbiome and factors affecting the colonization progress in preterm infants remain unclear. The purpose of this prospective longitudinal study was to explore day-to-day gut microbiome patterns in preterm infants during their first 30 days of life in the neonatal intensive care unit (NICU) and investigate potential factors related to the development of the infant gut microbiome. A total of 378 stool samples were collected daily from 29 stable/…

0301 basic medicineMaleLongitudinal studyNeonatal intensive care unitPhysiologylcsh:MedicinePhysiologyGut floraPathology and Laboratory MedicineFamilies0302 clinical medicineAntibioticsMedicine and Health Scienceslcsh:ScienceChildrenBreast Milk2. Zero hungerMultidisciplinarybiologyAntimicrobialsMicrobiotaDrugsGenomicsBacterial PathogensBody FluidsIntestinesMilkMedical MicrobiologyFemaleInfant FoodPathogensAnatomyInfantsInfant PrematureResearch ArticleEnterobacterialesMicrobial GenomicsBreast milkMicrobiologyMicrobiology03 medical and health sciencesSex FactorsMicrobial ControlGeneticsHumansMicrobiomeMicrobial PathogensClostridiumPharmacologyBacterialcsh:RGut BacteriaInfant NewbornOrganismsBiology and Life SciencesNeonatesbiology.organism_classificationPostnatal age030104 developmental biologyAge GroupsPeople and Placeslcsh:QPopulation GroupingsMicrobiomeBacteroides030217 neurology & neurosurgeryDevelopmental BiologyPloS one
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Antibody trapping: A novel mechanism of parasite immune evasion by the trematode Echinostoma caproni

2017

Background Helminth infections are among the most prevalent neglected tropical diseases, causing an enormous impact in global health and the socioeconomic growth of developing countries. In this context, the study of helminth biology, with emphasis on host-parasite interactions, appears as a promising approach for developing new tools to prevent and control these infections. Methods/Principal findings The role that antibody responses have on helminth infections is still not well understood. To go in depth into this issue, work on the intestinal helminth Echinostoma caproni (Trematoda: Echinostomatidae) has been undertaken. Adult parasites were recovered from infected mice and cultured in vi…

0301 basic medicineMalePhysiologyAntibody ResponsePathogenesisPathology and Laboratory MedicineBiochemistryMiceImmune PhysiologyEchinostomaMedicine and Health SciencesParasite hostingEnzyme-Linked ImmunoassaysMicroscopy ImmunoelectronImmune ResponseEchinostomiasisImmune System Proteinsbiologylcsh:Public aspects of medicineProteases030108 mycology & parasitologyEnzymesInfectious DiseasesHelminth InfectionsHost-Pathogen InteractionsTrematodaAntibodyEchinostomaCellular Structures and OrganellesResearch ArticleProtein BindingProteaseslcsh:Arctic medicine. Tropical medicinelcsh:RC955-962ImmunologyAntibodies HelminthContext (language use)Research and Analysis MethodsAntibodies03 medical and health sciencesImmune systemParasitic DiseasesAnimalsSecretionVesiclesImmunoassaysImmune EvasionPublic Health Environmental and Occupational HealthBiology and Life SciencesProteinslcsh:RA1-1270Cell Biologybiology.organism_classificationVirologyDisease Models Animal030104 developmental biologyMicroscopy FluorescenceProteolysisbiology.proteinImmunologic TechniquesEnzymologyPLoS Neglected Tropical Diseases
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