Search results for "cART"

showing 10 items of 2010 documents

The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence…

1996

We have identified an 18 bp deletion in exon 49 of the type II procollagen gene (COL2A1) in a patient with Kniest dysplasia. The deletion is located at the very C-terminus of the helical domain and removes two of three Gly-Pro-Pro triplets at positions 1007-1012, which are thought to be involved in helix formation and stability. Morphological investigation of an iliac crest biopsy showed large inclusions in the endoplasmic reticulum of chondrocytes, reflecting impaired secretion of type II collagen. Electrophoretic analysis of collagens extracted from cartilage or synthesised by cultured chondrocytes showed that type II and also type XI procollagen molecules containing mutant alpha 1 (II) c…

MaleDNA Mutational AnalysisMolecular Sequence DataMutantType II collagenBiologyOsteochondrodysplasiasChondrocyteIliumExonKniest dysplasiaGeneticsmedicineHumansAmino Acid SequencePeptide sequenceCells CulturedGenetics (clinical)Sequence DeletionInclusion BodiesGeneticsBase SequenceC-terminusExonsmedicine.diseaseMolecular biologyProcollagen peptidaseCartilagemedicine.anatomical_structureGenesChild PreschoolCollagenEndoplasmic Reticulum RoughProcollagenResearch ArticleJournal of Medical Genetics
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Metal pins fired from unmodified blank cartridge guns and very small calibre weapons - technical and wound ballistic aspects

1998

Blank cartridge guns are generally regarded as being harmless and are not considered to be firearms in most countries. A comparison of the legal situations in Germany and Austria concerning weapons is given. There have been several reports of serious injuries and even fatalities due to these weapons. Ballistic experiments show that even unmodified blank cartridge guns and very small calibre weapons can fire wire nails and can inflict potentially fatal injuries even at distances of 50 cm. Two serious injuries inflicted by metal pins fired from a blank cartridge gun and a very small calibre weapon are reported. These cases suggest that such weapons should also be considered handguns in the le…

MaleFirearmsEngineeringInjury controlAccident preventionbusiness.industryPoison controlForensic MedicineMiddle AgedPathology and Forensic MedicineCaliberAustriaGermanyForensic engineeringHumansWounds GunshotbusinessBlank cartridgeAgedInternational Journal of Legal Medicine
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Sedaghatian congenital lethal metaphyseal chondrodysplasia—observations in a second Iranian family and histopathological studies

1987

In 1980, Sedaghatian described in two brothers and one sister a neonatally lethal disorder associated with slight rhizomelic limb shortness, mild platyspondyly, and severe metaphyseal dysplasia. Here data are presented on another Iranian infant with the Sedaghatian syndrome who died on day 4 and was found to have histologic evidence of severe epimetaphyseal dysplasia. The occurrence in children of both sexes in one instance, born to normal parents who were first cousins, and currently apparent confinement of the disorder to Iranians suggests that the Sedaghatian syndrome is an autosomal recessive trait with high gene frequency in Iranians. This may be a more complexly pleiotropic syndrome t…

MaleGeneticsmedicine.medical_specialtyDepressed nasal bridgeMetaphyseal chondrodysplasiabusiness.industryInfant NewbornShort neckConsanguinityIranOsteochondrodysplasiasmedicine.diseaseMetaphyseal dysplasiaDermatologyMicrophthalmiaBone and BonesAutosomal recessive traitCartilageDysplasiaotorhinolaryngologic diseasesmedicineHumansbusinessGenetics (clinical)American Journal of Medical Genetics
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Assessment of Three-and-a-Half-Year-Old Children's Emerging Phonological Awareness in a Computer Animation Context

2003

Four computer-animated tasks were created to analyze the underlying structure of emerging phonological awareness at 3.5 years of age and to explore the factors that influence children's ( N = 91) performance on the tasks. Our findings indicated that already at this young age, children are able to master tasks demanding identification, blending, and continuation of phonological units when the tasks are presented in a motivating assessment context. In line with earlier research, children showed higher mastery in dealing with words and syllables than in dealing with phonemes. Targets in the initial position of a word were easier for children to identify than those in the final position. Our an…

MaleHealth (social science)MetacognitionContext (language use)EducationDevelopmental psychology03 medical and health sciences0302 clinical medicinePhoneticsPhonological awarenessCognitive developmentmedicineHumansCartoons as Topic05 social sciences050301 educationPhoneticsPhonologyCognition030229 sport sciencesAwarenessChild PreschoolGeneral Health ProfessionsLearning disabilitySpeech PerceptionFemalemedicine.symptomPsychology0503 educationCognitive psychologyJournal of Learning Disabilities
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The Carbon Monoxide-Releasing Molecule Tricarbonyldichlororuthenium(II) Dimer Protects Human Osteoarthritic Chondrocytes and Cartilage from the Catab…

2008

We have investigated the effects of a carbon monoxide-releasing molecule, tricarbonyldichlororuthenium(II) dimer (CORM-2), on catabolic processes in human osteoarthritis (OA) cartilage and chondrocytes activated with interleukin-1beta. In these cells, proinflammatory cytokines induce the synthesis of matrix metalloproteinases (MMPs) and aggrecanases, including members of a disintegrin and metalloproteinase with thrombospondin domain (ADAMTS) family, which may contribute to cartilage loss. CORM-2 down-regulated MMP-1, MMP-3, MMP-10, MMP-13, and ADAMTS-5 in OA chondrocytes, and it inhibited cartilage degradation. These effects were accompanied by increased aggrecan synthesis and collagen II e…

MaleInterleukin-1betaDown-RegulationMatrix metalloproteinaseProtective AgentsProinflammatory cytokineExtracellular matrixChondrocytesOsteoarthritisOrganometallic CompoundsmedicineExtracellularHumansAggrecansCollagen Type IIAggrecanAgedPharmacologyCarbon MonoxideThrombospondinChemistryCartilageADAMTSMatrix MetalloproteinasesCell biologyCartilagemedicine.anatomical_structureBiochemistryMolecular MedicineFemaleJournal of Pharmacology and Experimental Therapeutics
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A prospective, randomized, triple-blind comparison of articaine and bupivacaine for maxillary infiltrations

2011

Objectives: To compare the clinical anesthetic efficacy of 0.5% bupivacaine and 4% articaine (both with 1:200.000 adrenaline) for anterior maxillary infiltration in healthy volunteers. Material and methods: A triple-blind split-mouth randomized clinical trial was carried out in 20 volunteers. A supraperiosteal buccal injection of 0.9 ml of either solution at the apex of the lateral incisor was done in 2 appointments separated 2 weeks apart. The following outcome variables were measured: latency time, anesthetic efficacy (dental pulp, keratinized gingiva, alveolar mucosa and upper lip mucosa and tissue) and the duration of anesthetic effect. Hemodynamic parameters were monitored during the p…

MaleLocal anesthesiaAnestèsia en odontologiaTime FactorsLidocaineAnesthesia DentalDentistryJawsCarticaineArticaineInjectionsYoung AdultCarticainestomatognathic systemMaxillamedicineHumansProspective StudiesAnesthetics LocalGeneral DentistryAlveolar mucosaBupivacaineMaxil·larsbusiness.industryClinical and Experimental dentistryHemodynamicsLidocaineAnestèsia localBuccal administration:CIENCIAS MÉDICAS [UNESCO]AmidesInjeccionsstomatognathic diseasesOtorhinolaryngologyResearch DesignAnesthesiaMaxillaUNESCO::CIENCIAS MÉDICASAnestheticResearch-ArticleFemaleSurgeryAnesthesia in dentistrybusinessAnesthesia Localmedicine.drugMedicina Oral Patología Oral y Cirugia Bucal
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A cell-free approach with a supporting biomaterial in the form of dispersed microspheres induces hyaline cartilage formation in a rabbit knee model

2020

The objective of this study was to test a regenerative medicine strategy for the regeneration of articular cartilage. This approach combines microfracture of the subchondral bone with the implant at the site of the cartilage defect of a supporting biomaterial in the form of microspheres aimed at creating an adequate biomechanical environment for the differentiation of the mesenchymal stem cells that migrate from the bone marrow. The possible inflammatory response to these biomaterials was previously studied by means of the culture of RAW264.7 macrophages. The microspheres were implanted in a 3 mm-diameter defect in the trochlea of the femoral condyle of New Zealand rabbits, covering them wi…

MaleMaterials scienceKnee JointPolyesters0206 medical engineeringBiomedical EngineeringBiocompatible Materials02 engineering and technologyCell freePolylactiderabbit knee modelMicrosphereBiomaterials03 medical and health sciencesMice0302 clinical medicinemedicineAnimals03.- Garantizar una vida saludable y promover el bienestar para todos y todas en todas las edadesCiencias Exactas030222 orthopedicsChitosanRabbit knee modelHyaline cartilageCartilage engineeringcartilage engineeringArticular cartilage regeneration020601 biomedical engineeringMicrospheresmedicine.anatomical_structureHyaline CartilageRAW 264.7 Cellsarticular cartilage regenerationpolylactideCiencias MédicasMAQUINAS Y MOTORES TERMICOSRabbitschitosanHumanities
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Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

2020

International audience; PURPOSE: Lamb-Shaffer syndrome (LAMSHF) is a neurodevelopmental disorder described in just over two dozen patients with heterozygous genetic alterations involving SOX5, a gene encoding a transcription factor regulating cell fate and differentiation in neurogenesis and other discrete developmental processes. The genetic alterations described so far are mainly microdeletions. The present study was aimed at increasing our understanding of LAMSHF, its clinical and genetic spectrum, and the pathophysiological mechanisms involved.METHODS: Clinical and genetic data were collected through GeneMatcher and clinical or genetic networks for 41 novel patients harboring various ty…

MaleMedizinHaploinsufficiencyL-SOX5VARIANTS0302 clinical medicineNeurodevelopmental disorderIntellectual disabilityMissense mutation2.1 Biological and endogenous factorsAetiologyChildGenetics (clinical)GeneticsPediatricGenetics & Heredity0303 health sciencesPedigreeFAMILYDNA-Binding Proteinsdevelopmental delayTRANSCRIPTION FACTORSPhenotypeintellectual disabilityChild Preschoolmissense variantsFemalemissense variants.HaploinsufficiencySOXD Transcription FactorsAdultEXPRESSIONAdolescentIntellectual and Developmental Disabilities (IDD)Clinical SciencesMutation MissenseautismCell fate determinationBiologyLONG FORMSEQUENCEArticle03 medical and health sciencesYoung AdultRare DiseasesClinical ResearchCARTILAGEIntellectual DisabilitymedicineGeneticsAnimalsHumansLanguage Development DisordersGenetic Predisposition to DiseasePreschoolTranscription factorGene030304 developmental biology[SDV.GEN]Life Sciences [q-bio]/GeneticsMUTATIONSHuman GenomeInfantmedicine.diseaseBrain DisordersNeurodevelopmental DisordersDeciphering Developmental Disorder StudyMutationAutismepilepsyMissense030217 neurology & neurosurgeryGENERATIONGenetics in Medicine
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Expression of heme oxygenase-1 and regulation by cytokines in human osteoarthritic chondrocytes

2003

Heme oxygenase-1 (HO-1) is implicated in the protection against tissue injury. We investigated the expression of this protein in cartilage sections and chondrocytes obtained from osteoarthritic patients. HO-1 was immunodetected in preparations from cartilage and also in chondrocytes cultured in the absence of stimulation. We found that HO-1 can be modulated by cytokines since the pro-inflammatory cytokines interleukin (IL)-1beta, IL-17 and tumour necrosis factor-alpha (TNF-alpha) down-regulated this protein, whereas the anti-inflammatory cytokine IL-10 exerted the opposite effect. Our results suggest a role for HO-1 as part of protective mechanisms against tissue injury in human cartilage.

MaleNecrosismedicine.medical_treatmentBiochemistryGene Expression Regulation EnzymologicChondrocytechemistry.chemical_compoundChondrocytesOsteoarthritismedicineHumansHemeAgedPharmacologyRegulation of gene expressionbusiness.industryCartilageInterleukin-17Membrane ProteinsInterleukinInterleukin-10Cell biologyHeme oxygenasemedicine.anatomical_structureCytokinechemistryHeme Oxygenase (Decyclizing)ImmunologyCytokinesFemalemedicine.symptombusinessHeme Oxygenase-1Interleukin-1Biochemical Pharmacology
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Inorganic arsenic exposure and neuropsychological development of children of 4-5 years of age living in Spain

2019

This study was funded by grants from Spanish Institute of Health Carlos III-Ministry of Economy and Competitiveness (INMA Network G03/176, CB06/02/0041, and FIS-FEDER: PI03/1615, PI04/1436, PI08/1151, PI04/2018, PI04/1509, PI04/1112, PI04/1931, PI05/1079, PI05/1052, PI06/1213, PI06/0867, PI07/0314, PI09/02647, PS09/00090, PI09/02311, MS11/0178, PI13/1944, PI13/2032, PI14/00891, PI16/1288, and PI17/00663). Miguel Servet-FEDER: MSII16/ 00051, CP14/00108 & PI16/00261 (Co-funded by European Regional Development Fund “A way to make Europe”), FEDER funds, MS13/00054. Generalitat de Catalunya-CIRIT 1999SGR 00241, JCI2011–09771–MICINN, Generalitat Valenciana (Conselleria de Sanitat048/2010 and 060/…

MaleNeurodevelopmentMcCarthy scales of Children's abilitiesDevelopmental toxicologyUrine010501 environmental sciencesNeuropsychological developmentEnvironment01 natural sciencesBiochemistryArsenicalsArticleArsenic03 medical and health scienceschemistry.chemical_compound0302 clinical medicineChild DevelopmentInterquartile rangeCacodylic acidMedicineCacodylic AcidHumans030212 general & internal medicineChildren Developmental toxicology Dietary arsenic Environment Inorganic arsenic McCarthy scales of Children's abilities Neurodevelopment Neuropsychological development Urinary arsenic speciesAdverse effectChildChildren0105 earth and related environmental sciencesGeneral Environmental ScienceUrinary arsenic speciesbusiness.industryDietary ArsenicConfoundingInorganic arsenicEnvironmental ExposureMcCarthy Scales of Children's AbilitiesConfidence intervalDietCross-Sectional StudieschemistryDietary arsenicSpainChild PreschoolFemalebusinessDemographyEnvironmental Research
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