Search results for "RICS"

showing 10 items of 14086 documents

Ophthalmological Findings in Mucopolysaccharidoses

2019

The mucopolysaccharidoses (MPS) are a heterogenous group of lysosomal storage disorders caused by the accumulation of glycosaminoglycans (GAGs). The accrual of these compounds results in phenotypically varied syndromes that produce multi-organ impairment with widespread systemic effects. The low incidence of MPS (approximately 1/25,000 live births) in conjunction with the high childhood mortality rate had limited the availability of research into certain clinical features, especially ocular manifestations. As the recent successes of hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT) have greatly increased life expectancy in these patients, they have served a…

0301 basic medicinecongenital hereditary and neonatal diseases and abnormalitiesPediatricsmedicine.medical_specialtygenetic structuresmedicine.medical_treatmentMucopolysaccharidosislcsh:MedicineGlaucomaReviewHematopoietic stem cell transplantation03 medical and health sciences0302 clinical medicineQuality of lifeCorneal cloudingmedicinebusiness.industryMortality rateIncidence (epidemiology)lcsh:Rnutritional and metabolic diseasesmucopolysaccharidosisGeneral MedicineEnzyme replacement therapymedicine.diseaseocular manifestationseye diseasesophthalmology030104 developmental biologycorneal clouding030221 ophthalmology & optometrylysosomal storage disordersense organsbusinessJournal of Clinical Medicine
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Genomic characterization of the Braque Français type Pyrénées dog and relationship with other breeds

2018

The evaluation of genetic variability is a useful research tool for the correct management of selection and conservation strategies in dog breeds. In addition to pedigree genealogies, genomic data allow a deeper knowledge of the variability and genetic structure of populations. To date, many dog breeds, such as small regional breeds, still remain uncharacterized. Braque Français type Pyrénées (BRA) is a dog breed originating from a very old type of gun-dog used for pointing the location of game birds to hunters. Despite the ancient background, the knowledge about levels of genetic diversity, degree of inbreeding and population structure is scarce. This may raise concerns on the possibility …

0301 basic medicinedogsHeredityPopulation geneticsLinkage DisequilibriumDog Genetic diversity SNP Markers Braque Français type Pyrénées LUPA project Dog GenotypingDog Genetic diversitySettore AGR/17 - Zootecnica Generale E Miglioramento GeneticoEffective population sizegenetic parametersInbreedingMammalseducation.field_of_studyGenomeMammalian GenomicsMultidisciplinaryEcologyPets and Companion AnimalsSNP MarkersQREukaryotaBraque Français type PyrénéesBreedLUPA projectVertebratesGenetic structureMedicineInbreedingResearch ArticleGenotypeEcological MetricsPopulation SizeScienceAnimal TypesPopulationSNPBiologyPolymorphism Single Nucleotidediversity03 medical and health sciencesPopulation MetricsEffective Population SizeGeneticsgenomicsAnimalsgenetic distancesGenetic variabilityeducationDog GenotypingBraque Français SNP array Genetic diversity and population structurePopulation DensityEvolutionary BiologyGenetic diversityWolvesPopulation BiologyEcology and Environmental SciencesOrganismsGenetic VariationBiology and Life Sciencesbraque françaisBayes TheoremSpecies DiversityGenetics Population030104 developmental biologyAnimal GenomicsEvolutionary biologyAmniotesZoologyPopulation Genetics
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2020

<b><i>Introduction:</i></b> Individuals suffering from overweight or obesity frequently experience weight-based stigmatization. The widespread belief that weight is a matter of personal will and self-control results in various weight-based stereotypes (e.g., laziness, lack of self-discipline, or neglect). <b><i>Objective:</i></b> Based on the modified version of the Weight Bias Internalization Scale (WBIS-M), a short form for the economic assessment of weight bias internalization in the general population was compiled and validated. <b><i>Methods:</i></b> A three-item short form (WBIS-3) was derived based on data from a…

0301 basic medicineeducation.field_of_study030109 nutrition & dieteticsHealth (social science)Psychometricsbusiness.industryPopulationConstruct validity030209 endocrinology & metabolismSample (statistics)OverweightStructural equation modelingCorrelation03 medical and health sciences0302 clinical medicinePhysiology (medical)StatisticsmedicineMeasurement invariancemedicine.symptombusinesseducationObesity Facts
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Kinematic Sub-Populations in Bull Spermatozoa: A Comparison of Classical and Bayesian Approaches

2020

The ejaculate is heterogenous and sperm sub-populations with different kinematic patterns can be identified in various species. Nevertheless, although these sub-populations are statistically well defined, the statistical differences are not always relevant. The aim of the present study was to characterize kinematic sub-populations in sperm from two bovine species, and diluted with different commercial extenders, and to determine the statistical relevance of sub-populations through Bayesian analysis. Semen from 10 bulls was evaluated after thawing. An ISAS&reg

0301 basic medicineendocrine systemMultivariate statisticsKinematicsCASABayesian probabilitySemenKinematicsBiologyArticleGeneral Biochemistry Genetics and Molecular Biologylaw.invention03 medical and health sciences0302 clinical medicinelawStatisticsbulllcsh:QH301-705.5030219 obstetrics & reproductive medicineGeneral Immunology and MicrobiologySub populationsurogenital systemExtenderMotilitySpermSpermatozoaBulls030104 developmental biologylcsh:Biology (General)ClusterPrincipal component analysisGeneral Agricultural and Biological Sciences
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Activin and inhibin A in predicting outcome of pregnancies of unknown location after ART

2018

Abstract The aim was to investigate the predictive value of a single serum determination of activin A and inhibin A for classifying pregnancies of unknown location (PUL) after IVF cycles in both own fresh and donated oocytes. A case–control study conducted in a University-affiliated IVF center. Pregnancy outcomes after own fresh oocytes included 12 failing PUL, 12 ectopic pregnancies (EP) and a control group of 24 singleton intrauterine pregnancies (IUP). The same scheme was followed for the oocyte donation recipients. Inhibin A, activin A, β-hCG and Progesterone (P) were determined. In the own fresh oocytes IVF, the AUC for predicting EP vs. f failing PUL were: Activin A: 0.458 and Inhibin…

0301 basic medicineendocrine systemPregnancyInhibin a030219 obstetrics & reproductive medicineEctopic pregnancybusiness.industryActivin and inhibinmedicine.diseasefemale genital diseases and pregnancy complicationsActivin aAndrology03 medical and health sciences030104 developmental biology0302 clinical medicineInduced ovulationOocyte donationMedicineBiomarker (medicine)businessreproductive and urinary physiologyhormones hormone substitutes and hormone antagonistsMedicina Reproductiva y Embriología Clínica
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Micro-RNA profile and proteins in peritoneal fluid from women with endometriosis: their relationship with sterility.

2018

Objective: To define the microRNA (miRNA) profile and its relationship with cytokines content in peritoneal fluid (PF) from endometriosis patients. Design: Case-control study. Setting: University hospital, research institute. Patient(s): One hundred twenty-six women with endometriosis (EPF) and 45 control women (CPF). Main Outcomes Measure(s): MiRNA arrays were prepared from six EPF and six CPF. Quantitative reverse transcription-polymerase chain reaction validation of nine selected miRNAs (miR-29c-3p, -106b-3p, -130a-3p, -150-5p, -185-5p, -195-5p, -451a, -486-5p, and -1343-5p) was performed. Vascular endothelial growth factor-A (VEGF-A), thrombospondin-1 (TSP-1), urokinase plasminogen acti…

0301 basic medicineendometriosisAdultProteomicsMMP3AngiogenesisEndometriosisEndometriosisEnzyme-Linked Immunosorbent AssayAndrology03 medical and health sciences0302 clinical medicinePregnancymedicineAscitic FluidHumansAngiogenic ProteinsMacrophage inflammatory proteinOligonucleotide Array Sequence Analysis030219 obstetrics & reproductive medicinemicroRNAbusiness.industryPeritoneal fluidGene Expression ProfilingObstetrics and GynecologyInterleukinProteinsMiddle Agedmedicine.diseaseFold changeMicroRNAs030104 developmental biologyperitoneal fluidFertilityReproductive MedicineinflammationCase-Control StudiesCytokinesFemaleAngiogenesisInflammation MediatorsbusinessTranscriptomePlasminogen activatorInfertility FemaleFertility and sterility
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Biomarkers for the Noninvasive Diagnosis of Endometriosis: State of the Art and Future Perspectives

2020

Background: Early and accurate diagnosis of endometriosis is crucial for the management of this benign, yet debilitating pathology. Despite the advances of modern medicine, there is no common ground regarding the pathophysiology of this disease as it continues to affect the quality of life of millions of women of reproductive age. The lack of specific symptoms often determines a belated diagnosis. The gold standard remains invasive, surgery followed by a histopathological exam. A biomarker or a panel of biomarkers is easy to measure, usually noninvasive, and could benefit the clinician in both diagnosing and monitoring the treatment response. Several studies have advanced the idea of biomar…

0301 basic medicineendometriosisProteomicsEndometriosisDiseaseReviewlcsh:ChemistryangiogenesisEndometrium0302 clinical medicinelcsh:QH301-705.5SpectroscopyOligonucleotide Array Sequence Analysis030219 obstetrics & reproductive medicineNeovascularization PathologicGeneral MedicineGenomicsComputer Science ApplicationsBiomarker (medicine)biomarkerFemalemedicine.medical_specialtyTreatment responseModern medicineCatalysisInorganic Chemistry03 medical and health sciencesmedicineHumansMetabolomicsurinary biomarkersPhysical and Theoretical ChemistryIntensive care medicineMolecular BiologyNoninvasive biomarkersAutoantibodiesInflammationbusiness.industryOrganic ChemistryGold standard (test)medicine.diseaseUrinary biomarkerscytokinesMicroRNAsOxidative Stress030104 developmental biologylcsh:Biology (General)lcsh:QD1-999businessPeptidesBiomarkersInternational Journal of Molecular Sciences
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Gastroblastoma in Adulthood—A Rarity among Rare Cancers—A Case Report and Review of the Literature

2019

Gastroblastoma (GB) is a rare gastric epithelial-mesenchymal neoplasm, first described by Miettinen et al. So far, all reported cases described the tumor in children or young adults, and similarities with other childhood blastomas have been postulated. We report a case of GB in a 43-year-old patient with long follow up and no recurrence up to 100 months after surgery. So far, this is the second case of GB occurring in the adult age >40-year-old. Hence, GB should be considered in the differential diagnosis of microscopically comparable conditions in adults carrying a worse prognosis and different clinical approach.

0301 basic medicineepithelial-mesenchymal neoplasmPediatricsmedicine.medical_specialtyPathologyGastroblastomabusiness.industryrare biphasic neoplasmMEDLINECase ReportGeneral MedicinegastroblastomaSettore MED/08 - Anatomia PatologicaAdult age03 medical and health sciences030104 developmental biology0302 clinical medicine030220 oncology & carcinogenesislcsh:PathologyMedicineDifferential diagnosisYoung adultbusinesslcsh:RB1-214Case Reports in Pathology
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Transplantation of ACE2- Mesenchymal Stem Cells Improves the Outcome of Patients with COVID-19 Pneumonia

2020

A coronavirus (HCoV-19) has caused the novel coronavirus disease (COVID-19) outbreak in Wuhan, China. Preventing and reversing the cytokine storm may be the key to save the patients with severe COVID-19 pneumonia. Mesenchymal stem cells (MSCs) have been shown to possess a comprehensive powerful immunomodulatory function. This study aims to investigate whether MSC transplantation improves the outcome of 7 enrolled patients with COVID-19 pneumonia in Beijing YouAn Hospital, China, from Jan 23, 2020 to Feb 16, 2020. The clinical outcomes, as well as changes of inflammatory and immune function levels and adverse effects of 7 enrolled patients were assessed for 14 days after MSC injection. MSCs …

0301 basic medicinefunction recoverymedicine.medical_specialtyPopulationimmunomodulationGastroenterologyPathology and Forensic MedicineImmunomodulation03 medical and health sciences0302 clinical medicineImmune systemInternal medicinemedicinecell transplantationAdverse effecteducationSettore MED/04 - Patologia Generalemesenchymal stem cellseducation.field_of_studybusiness.industryMesenchymal stem cellCOVID-19Cell Biologymedicine.diseaseFunction recoveryACE2 negativeTransplantationPneumonia030104 developmental biologyMesenchymal stem cellsNeurology (clinical)Cell transplantationGeriatrics and GerontologybusinessCytokine storm030217 neurology & neurosurgeryCD8Aging and disease
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Dysregulation of C-X-C motif ligand 10 during aging and association with cognitive performance

2017

International audience; Chronic low-grade inflammation during aging (inflammaging) is associated with cognitive decline and neurodegeneration; however, the mechanisms underlying inflammaging are unclear. We studied a population (n = 361) of healthy young and old adults from the MyoAge cohort. Peripheral levels of C-X-C motif chemokine ligand 10 (CXCL10) was found to be higher in older adults, compared with young, and negatively associated with working memory performance. This coincided with an age-related reduction in blood DNA methylation at specific CpGs within the CXCL10 gene promoter. In vitro analysis supported the role of DNA methylation in regulating CXCL10 transcription. A polymorph…

0301 basic medicinegamma interferon inducible protein 10genomic DNAAlzheimerin tautiEpigenesis GeneticCohort StudiesCXCL10 geneCognitionsingle nucleotide polymorphismcognitive defectCognitive declineAged 80 and overCerebral Cortexeducation.field_of_studyprefrontal cortexDNA methylationGeneral NeuroscienceadultNeurodegenerationneurodegenerationta3141U937 CellsMethylationta3142Alzheimer's diseasecohort analysisDNA-metylaatioagedfemalepriority journalepigenetiikkaDNA methylationAlzheimer's diseaseAlzheimer diseasetranscription regulationAlzheimer’s diseasekognitiiviset taidotmedicine.medical_specialty[SDV.MHEP.AHA] Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO]in vitro studyAdolescentheredityPopulationBiologyArticleworking memoryYoung Adult03 medical and health sciencesCognitive agingpromoter regionmaleMemoryInternal medicineJournal Articlemedicine[SDV.MHEP.AHA]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO]HumansCXCL10controlled studyEpigeneticshumanbrain levelNeurodegenerationeducationepigeneticscognitive aginghuman cellagingdisease associationmedicine.diseasemajor clinical studyInflammagingChemokine CXCL10gamma interferon inducible protein 10; genomic DNA adult; age; aged; aging; Alzheimer disease; Article; brain level; cognitive defect; cohort analysis; controlled study; CpG island; CXCL10 gene; disease association; DNA methylation; epigenetics; female; heredity; human; human cell; in vitro study; inflammation; major clinical study; male; prefrontal cortex; priority journal; promoter region; single nucleotide polymorphism; transcription regulation; working memory; Alzheimer's disease; Cognitive aging; DNA methylation; Epigenetics; Inflammaging; Neurodegeneration030104 developmental biologyEndocrinologyikääntyminenageinflammationNerve DegenerationCpG islandinflammagingNeurology (clinical)Geriatrics and GerontologyHeLa CellsDevelopmental BiologyNeurobiology of Aging
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