Search results for "Alu"

showing 10 items of 15362 documents

Assessment of embryo morphology and developmental dynamics by time-lapse microscopy: is there a relation to implantation and ploidy?

2017

Time-lapse microscopy (TLM) is an exciting novel technology with great potential for enhancing embryo selection in the embryology laboratory. This non-invasive objective assessment of embryos has provided a new tool for predicting embryo development and implantation potential. TLM detects several morphological phenomena that are often missed with static observations using conventional incubators, such as irregular divisions, blastocyst collapse and re-expansion, timing of blastocoel appearance, and timing of formation and internalization of fragments. Nevertheless, it should be recognized that conventional morphological assessment has been widely accepted as the gold standard by most embryo…

0301 basic medicineGenetic MarkersCell SurvivalAneuploidyFertilization in VitroBiologyTime-Lapse ImagingTime-lapse microscopy03 medical and health sciences0302 clinical medicinePredictive Value of TestsPregnancymedicineSingle Embryo TransferHumansBlastocystEmbryo ImplantationGeneticsMicroscopy030219 obstetrics & reproductive medicinePloidiesEmbryogenesisBlastocoelPregnancy OutcomeObstetrics and GynecologyEmbryomedicine.diseaseCell biology030104 developmental biologymedicine.anatomical_structureBlastocystFertilityTreatment OutcomeReproductive MedicineEmbryologyInfertilityembryonic structuresFemalePloidyFertility and sterility
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Identification of novel mutations in L1CAM gene by a DHPLC-based assay

2016

X-linked hydrocephalus, MASA syndrome, X-linked complicated Spastic Paraplegia Type I, and X-linked partial agenesis of the corpus callosum are rare diseases mainly affecting male population and broadly referred as L1 syndrome, caused by mutations in the L1CAM gene. In the present study 36 boys and a male fetus whose clinical features were consistent with L1 syndrome were analyzed by dHPLC assay and direct sequencing of L1CAM gene. Sequence analysis of the 14 different aberrant dHPLC elution profiles demonstrated that six of them were associated with already reported polymorphisms, four with previously described causative variants while the remaining four represented novel L1CAM mutations. …

0301 basic medicineGeneticsCRASH syndromeHydrocephaluSequence analysisSpastic paraplegiaMASA syndromeL1-diseaseBiologyCorpus callosummedicine.diseaseBiochemistryHuman geneticsHydrocephalus03 medical and health sciences030104 developmental biologyIntellectual disabilityGeneticsmedicineAdducted thumbDifferential diagnosisL1 syndromeMolecular BiologyGenes & Genomics
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Association of susceptible genotypes to periodontal disease with the clinical outcome and tooth survival after non-surgical periodontal therapy: A sy…

2015

Background The real clinical utility of genetic testing is the prognostic value of genetic factors in the clinical outcome of periodontal treatment and the tooth survival. A meta-analysis was undertaken to estimate the effect of a susceptible genotype to periodontitis on the clinical outcomes of non-surgical periodontal therapy and the tooth survival. Material and Methods A systematic search of MEDLINE-Pubmed, Cochrane Library and Scopus was performed. Additionally, a hand search was done in three journals. No specific language restriction was applied. Two reviewers screened independently titles and abstracts or full text copies. Quality assessment of all the included studies was held. Resu…

0301 basic medicineGenotypeBleeding on probingTooth lossDentistryOdontologíaReviewCochrane LibraryMedical and Health Sciences03 medical and health sciences0302 clinical medicineGenotypeTooth lossmedicineHumansGenetic Predisposition to DiseasePolymorphismPeriodontitisGeneral DentistryPeriodontal DiseasesGenetic testingPeriodontitisOral Medicine and Pathologymedicine.diagnostic_testbusiness.industryClinical outcomePeriodontal therapy030206 dentistryBasic Medicinemedicine.disease:CIENCIAS MÉDICAS [UNESCO]Ciencias de la saludMeta-analysisTreatment Outcome030104 developmental biologyOtorhinolaryngologyClinical attachment lossSusceptibilityMeta-analysisUNESCO::CIENCIAS MÉDICASSystematic reviewSurgerymedicine.symptomPeriodontal diseasebusinessTooth
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Determinants of diet and physical Activity (DEDIPAC): a summary of findings

2017

The establishment of the Determinants of Diet and Physical Activity (DEDIPAC) Knowledge Hub, 2013 – 2016, was the first action taken by the ‘ Healthy Diet for a Healthy Life ’ European Joint Programming Initiative. DEDIPAC aimed to provide better insight into the determinants of diet, physical activity and sedentary behaviour across the life course, i.e. insight into the causes of the causes of important, non-commu nicable diseases across Europe and beyond. DEDIPAC was launched in late 2013, and delivered its final report in late 2016. In this paper we give an overview of what was achieved in terms of furthering measurement and monitoring, providing overviews of the state-of-the-art in the …

0301 basic medicineGerontologyDebateHealth BehaviorPsychological interventionMedicine (miscellaneous)Diseasedeterminants of health behaviours; dietary behaviour; Europe; interventions; physical activity; policy evaluation; sedentary behaviour[SHS]Humanities and Social SciencesCohort Studies0302 clinical medicineddc:150Medizinische FakultätMedicine030212 general & internal medicinelcsh:RC620-627InterventionsNutrition and Dieteticslcsh:Public aspects of medicineBenchmarkingPublic relationsPeer reviewDietary behaviour ; Interventions ; Physical activity ; Sedentary behaviour ; Europe ; Determinants of health behaviours ; Policy evaluationEuropelcsh:Nutritional diseases. Deficiency diseasesWork (electrical)Life course approachDeterminants of health behavioursDiet HealthyBehavioural sciencesInterventionPhysical Therapy Sports Therapy and RehabilitationDietary behaviour-Determinants of health behaviours;Dietary behaviour;Europe;Physical activity;Policy evaluation;Sedentary behaviour;InterventionsPolicy evaluation03 medical and health sciencesHumansddc:610Exercise030109 nutrition & dieteticsbusiness.industryPhysical activityResearchlcsh:RA1-1270Sedentary behaviourDietAction (philosophy)Determinants of health behaviourSedentary BehaviorbusinessDEDIPAC consortium
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Early food for future health: a randomized controlled trial evaluating the effect of an eHealth intervention aiming to promote healthy food habits fr…

2017

Childhood overweight and obesity is a global public health challenge. Primary prevention initiatives targeting parents have been called for to encourage a positive feeding environment and healthy eating habits that may lay a good foundation for future health. At the same time, there is a need for interventions which combine accessibility and scalability with cost effectiveness. Today’s parents are extensive Internet-users, but only a few randomized controlled trials have investigated the use of Internet to promote healthy eating habits in early childhood. In Early Food for Future Health we have developed and will evaluate an Internet-based tool for parents of children between 6 and 12 month…

0301 basic medicineGerontologyMalemedicine.medical_specialtyPediatricsPediatric ObesityCost effectivenessChildhood overweight and obesityParental feeding practicesPsychological interventionHealth Promotionlaw.invention03 medical and health sciencesStudy Protocol0302 clinical medicineRandomized controlled triallawIntervention (counseling)Surveys and QuestionnairesmedicineeHealthHumans030212 general & internal medicineEarly childhood030109 nutrition & dieteticsbusiness.industryNorwaylcsh:Public aspects of medicinePublic healthPublic Health Environmental and Occupational HealthInfantlcsh:RA1-1270Feeding BehaviorChild eating behaviorTelemedicineChild PreschoolFemaleBiostatisticsDiet HealthybusinessFollow-Up StudiesProgram Evaluation
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Análisis de la presencia de dietistas-nutricionistas en hospitales de Andalucía

2017

Introducción: La figura profesional de referencia en el tratamiento dietético en el ámbito hospitalario es el dietista-nutricionista (DN). Su interés público coincide con los datos sobre su actuación y eficiencia clínica. El objetivo es describir su presencia en hospitales públicos y privados de Andalucía y analizar en qué medida se cumplen los criterios de la Declaración de postura de la Asociación Española de Dietistas-Nutricionistas (AEDN) sobre la incorporación del DN en el Sistema Nacional de Salud de 2009.Material y métodos: Se seleccionó como muestra hospitales públicos y privados del Registro de Centros, Establecimientos y Servicios Sanitarios de la Consejería de Salud y Bienestar S…

0301 basic medicineGerontologymedicine.medical_specialtyRC620-627Hospital settingSistema SanitarioSocial WelfareSalud PúblicaPublic interest03 medical and health sciencesDietista-NutricionistaHealth careMedicineTX341-641Nutritional diseases. Deficiency diseasesNational health030109 nutrition & dieteticsNutrition and DieteticsNutrition. Foods and food supplybusiness.industryAtención PrimariaDietary treatmentFamily medicineUnidades HospitalariasEquidad en SaludbusinessFood ScienceRevista Española de Nutrición Humana y Dietética
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Multifaceted Health Benefits of Mangifera indica L. (Mango): The Inestimable Value of Orchards Recently Planted in Sicilian Rural Areas

2017

Historically, Mangifera indica L. cultivations have been widely planted in tropical areas of India, Africa, Asia, and Central America. However, at least 20 years ago its spreading allowed the development of some cultivars in Sicily, an island to the south of Italy, where the favourable subtropical climate and adapted soils represent the perfect field to create new sources of production for the Sicilian agricultural supply chain. Currently, cultivations of Kensington Pride, Keitt, Glenn, Maya, and Tommy Atkins varieties are active in Sicily and their products meet the requirements of local and European markets. Mango plants produce fleshy stone fruits rich in phytochemicals with an undispute…

0301 basic medicineHumid subtropical climatelcsh:TX341-641ReviewHealth benefits03 medical and health sciences0302 clinical medicinenutraceutical propertiesSettore BIO/10 - BiochimicaBotanyHumansMangifera indica L. fruit; nutraceutical propertiesMangiferaCultivarSicilyMangifera indica L. fruitMangiferaNutrition and DieteticsAgroforestryAgriculturelanguage.human_language030104 developmental biologyGeographyFruit030220 oncology & carcinogenesisAgricultural supply chainlanguageRural areaNutritive Valuelcsh:Nutrition. Foods and food supplySicilianFood ScienceNutrients
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Predicting drug-induced cholestasis: preclinical models.

2018

In almost 50% of patients with drug-induced liver injury (DILI), the bile flow from the liver to the duodenum is impaired, a condition known as cholestasis. However, this toxic response only appears in a small percentage of the treated patients (idiosyncrasy). Prediction of drug-induced cholestasis (DIC) is challenging and emerges as a safety issue that requires attention by professionals in clinical practice, regulatory authorities, pharmaceutical companies, and research institutions. Area covered: The current synopsis focuses on the state-of-the-art in preclinical models for cholestatic DILI prediction. These models differ in their goal, complexity, availability, and applicability, and ca…

0301 basic medicineIdiosyncrasymedicine.drug_classDrug Evaluation PreclinicalIn Vitro TechniquesToxicologyBioinformaticsModels BiologicalBile flow03 medical and health sciencesCholestasismedicineAnimalsBileHumansDrug induced cholestasisPharmacologyLiver injuryCholestasisBile acidbusiness.industryReproducibility of ResultsGeneral Medicinemedicine.disease030104 developmental biologymedicine.anatomical_structureHepatocyteDuodenumHepatocytesChemical and Drug Induced Liver InjurybusinessExpert opinion on drug metabolismtoxicology
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Targeting RNA structure in SMN2 reverses spinal muscular atrophy molecular phenotypes

2018

Modification of SMN2 exon 7 (E7) splicing is a validated therapeutic strategy against spinal muscular atrophy (SMA). However, a target-based approach to identify small-molecule E7 splicing modifiers has not been attempted, which could reveal novel therapies with improved mechanistic insight. Here, we chose as a target the stem-loop RNA structure TSL2, which overlaps with the 5′ splicing site of E7. A small-molecule TSL2-binding compound, homocarbonyltopsentin (PK4C9), was identified that increases E7 splicing to therapeutic levels and rescues downstream molecular alterations in SMA cells. High-resolution NMR combined with molecular modelling revealed that PK4C9 binds to pentaloop conformati…

0301 basic medicineIndolesCOMPOUND LIBRARIESDrug Evaluation PreclinicalGeneral Physics and AstronomyBiotecnologiaAnimals Genetically ModifiedExonMolecular Targeted TherapyRegulatory Elements Transcriptionallcsh:ScienceHUMAN-DISEASE GENESBIOACTIVE SMALL MOLECULESMultidisciplinaryChemistryDrug discovery[CHIM.ORGA]Chemical Sciences/Organic chemistryQImidazolesMUTATION PATTERNExonsSMA*3. Good healthCell biologySurvival of Motor Neuron 2 ProteinPhenotypeCribratgeRNA splicingNUCLEOTIDE STRUCTUREDrosophilaMESSENGER-RNACOMPUTATIONAL TOOLSMedical screeningMYOTONIC-DYSTROPHYScienceMuscular atrophyArticleGeneral Biochemistry Genetics and Molecular BiologyGenètica molecularMuscular Atrophy Spinal03 medical and health sciencesddc:570SPLICING MODIFIERSmedicineAnimalsHumansHIV-1 TARRNA MessengerAtròfia muscularMessenger RNAAlternative splicingRNAGeneral ChemistrySpinal muscular atrophymedicine.diseaseAlternative Splicing030104 developmental biologyRNAlcsh:QRNA Splice SitesHeLa CellsNature Communications
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Lactobacilli Degrade Wheat Amylase Trypsin Inhibitors to Reduce Intestinal Dysfunction Induced by Immunogenic Wheat Proteins.

2019

Background & Aims Wheat-related disorders, a spectrum of conditions induced by the ingestion of gluten-containing cereals, have been increasing in prevalence. Patients with celiac disease have gluten-specific immune responses, but the contribution of non-gluten proteins to symptoms in patients with celiac disease or other wheat-related disorders is controversial. Methods C57BL/6 (control), Myd88–/–, Ticam1–/–, and Il15–/– mice were placed on diets that lacked wheat or gluten, with or without wheat amylase trypsin inhibitors (ATIs), for 1 week. Small intestine tissues were collected and intestinal intraepithelial lymphocytes (IELs) were measured; we also investigated gut permeability and int…

0301 basic medicineInflammationdigestive systemSensitivity and SpecificityGliadin03 medical and health sciencesDiet Gluten-FreeMiceRandom Allocation0302 clinical medicineImmune systemReference ValuesLactobacillusmedicineAnimalsHumansAmylaseTriticum2. Zero hungerchemistry.chemical_classificationToll-like receptorHepatologybiologybusiness.industryGastroenterologynutritional and metabolic diseasesbiology.organism_classificationGlutendigestive system diseasesSmall intestineImmunity Innate3. Good healthGastrointestinal MicrobiomeMice Inbred C57BLCeliac DiseaseDisease Models AnimalLactobacillus030104 developmental biologymedicine.anatomical_structurechemistryImmunologyAmylasesbiology.proteinIntraepithelial lymphocyte030211 gastroenterology & hepatologymedicine.symptombusinessTrypsin InhibitorsGastroenterology
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