Search results for "OSiS"

showing 10 items of 15931 documents

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenital

2022

BackgroundArthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC families.MethodsSeveral genomic approaches were used including genetic mapping of disease loci in multiplex or consanguineous families, TES then WES. Sanger sequencing was performed to identify or validate variants.ResultsWe achieved disease gene identification in 52.7% of AMC index pati…

musculoskeletal diseasesArtrogriposi múltiple congènitaSettore BIO/18 - GENETICAhuman geneticsneuromuscular diseasesGenomicsBiologyCONTRACTURESCLASSIFICATIONdiseasessymbols.namesakeDiagnòsticGene mappingarthrogryposis multiplex congenitaExome SequencingOF-FUNCTION MUTATIONSGeneticsMedicine and Health SciencesgenomicsHumansGenetics (clinical)Exome sequencingArthrogryposisSanger sequencingGeneticsArthrogryposis multiplex congenitaGenetic heterogeneitySPINAL MUSCULAR-ATROPHYProteinsnervous system malformationsDYSTROPHYDisease gene identificationGENEHuman geneticsPedigreeETIOLOGYPhenotypesymbolsneuromuscularGenèticaTranscription Factors
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Tumour necrosis factor   in rheumatoid arthritis and osteoarthritis patients in blood serum and synovial fluid

2010

Rheumatoid arthritis (RA) is a chronic autoimmune disease of unknown cause which affects the ability of elderly people to work. There is strong evidence to suggest that inflammatory mediators such as tumour necrosis factor α (TNFα) and interleukin 1 (IL1) have a critical role in the pathogenesis of RA. Biological treatment blocks pathological pathways in the actions of these proinflammatory cytokines. The aim of this study was …

musculoskeletal diseasesAutoimmune diseasebusiness.industryImmunologyInterleukinmedicine.diseaseGeneral Biochemistry Genetics and Molecular BiologyProinflammatory cytokinePathogenesisBlood serumRheumatologyRheumatoid arthritisImmunologymedicineImmunology and AllergySynovial fluidTumor necrosis factor alphabusinessAnnals of the Rheumatic Diseases
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Decompression induces inflammation but do not modify cell proliferation and apoptosis in odontogenic keratocyst

2022

Background Odontogenic keratocyst (OKC) is a development cyst, of odontogenic origin, that differs from other entities by its infiltrating and aggressive biological behavior. Among conservative treatments for large lesions, surgical decompression stands out, with a variable recurrence rate. Aim: To evaluate the histological effects of decompression treatment on OKC, including cell proliferation and apoptosis of epithelial cyst. Material and Methods 21 OKC cases were included. Samples were taken before and after surgical decompression for histological evaluation and immunohistochemical staining of Ki-67, MCM4/7, Bax and Bcl2. Data were analyzed and compared using Student’s t and Wilcoxon tes…

musculoskeletal diseasesBcl2QUISTES ODONTOGENICOSOperative DentistryKi-67Case ReportApoptosisMCMDecompression.General DentistryOdontogenic keratocystUNESCO:CIENCIAS MÉDICAS
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Estudio clínico, radiográfico y plasmático de la osteonecrosis de los maxilares por bisfosfonatos en un grupo de183 pacientes

2016

Osteonecrosis of the jaw is a particular form of chronic osteomyelitis caused by bisphosphonates (BF) or by other pharmacological or anti-angiogenic drugs. The BF are potent drugs inhibitors of osteoclasts by exerting a strong interaction with these cells, producing a sharp decrease of bone resorption. Objectives: To analyse clinical and radiologic characteristics as well as differences in the plasma levels of the Activation Nuclear Kappa receptor ligand (RANKL) and of osteoprotegerin (OPG) in a group of patients with osteonecrosis and compared to healthy controls. In addition, within the Group of patients with osteonecrosis maxillary study if there is relationship between plasma levels of …

musculoskeletal diseasesBisfosfonatosRadiologíaOsteonecrosisRANKLOPGInterleuquinas
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Bone Mass Distribution in the Sacrum

2017

The trabecular architecture and bone mass distribution of each bone follows biomechanical principles and is an adaption to the stress exhibited during lifetime. In patients with osteoporosis, the bone mass decreases and the bone microarchitecture changes. A distinct bone mass distribution in non-osteoporotic and osteoporotic individuals is demonstrated using statistical modelling in the sacrum. The authors studied the sacral bone mass distribution using a 3D statistical model based on clinical CT scans of 92 Europeans. In the group with worse general bone mass (less than 100 Houndsfeld Units (HU) measured in the body of L5), there were large areas of negative HU in the sacral alae. These “a…

musculoskeletal diseasesBone mineralbusiness.industryOsteoporosisSacral BoneAnatomyTrabecular architecturemusculoskeletal systemmedicine.diseaseSacrumbody regionsmedicine.anatomical_structureAla of sacrummedicineCortical bonebusinessBone mass
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Arthrose und Osteoporose - Wirklich eine inverse Relation?

2005

Objective Increasing bone mineral density (BMD) has been found in several studies in patients with osteoarthritis (OA). Therefore, the simultaneous occurrence of osteoporosis (OP) and OA is denied by many clinicians. Because of our clinical impression, however, we suggest that we have to consider a common occurrence. In the present study we have examined the relationship between osteoathritis of the knee or the hip and osteoporosis. Method The BMD of the lumbar spine and the proximal femur of 117 OA patients (82 postmenopausal female patients aged 50-83 and 35 male patients aged 36-86 years) who subsequently required hip or knee replacements, but were otherwise healthy, was measured by dual…

musculoskeletal diseasesBone mineralmedicine.medical_specialtyBone densitybusiness.industryIncidence (epidemiology)OsteoporosisOsteoarthritismusculoskeletal systemLower riskmedicine.diseaseComorbidityOsteopeniaInternal medicinemedicinePhysical therapyOrthopedics and Sports MedicineSurgerybusinessZeitschrift für Orthopädie und ihre Grenzgebiete
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Both Resistance and Agility Training Increase Cortical Bone Density in 75- to 85-Year-Old Women With Low Bone Mass

2004

A randomized, controlled, single-blinded 25-wk prospective study was conducted to compare the effects of group-based resistance and agility training on bone, as measured by both dual-energy X-ray absorptiometry (DXA) and peripheral quantitative computed tomography (pQCT), in older women with low bone mass. Ninety-eight community-dwelling women aged 75-85 yr were randomized to one of three experimental groups: resistance training (n = 32), agility training (n = 34), or stretching (sham exercise) (n = 32). Total hip, femoral neck, and trochanteric bone mineral density (BMD) were measured by DXA. Peripheral QCT measurements were performed at the tibia and radius. The pQCT outcome measures at t…

musculoskeletal diseasesBone mineralmedicine.medical_specialtyBone densitymedicine.diagnostic_testbusiness.industryEndocrinology Diabetes and MetabolismOsteoporosismusculoskeletal systemmedicine.diseaseSurgerymedicine.anatomical_structuremedicineRadiology Nuclear Medicine and imagingOrthopedics and Sports MedicineFemurCortical boneTibiaQuantitative computed tomographyNuclear medicinebusinessFemoral neckJournal of Clinical Densitometry
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Osteoprotegerin (OPG) and RANKL expression and distribution in developing human craniomandibular joint.

2005

Abstract During embryogenesis the bone tissue of craniomandibular joint (CMJ) is formed through two pathways: intramembranous ossification and endochondral ossification. The development process is under the control of regulatory factors.The osteoprotegerin (OPG) and the receptor activator of nuclear factor (NF)-κB ligand are key regulators of osteoclastogenesis. The aim of this study is the localization of OPG and RANKL mRNA and protein in the foetal CMJ by immunohistochemistry (IHC) and in situ hybridization (ISH). The main results were: OPG and RANKL mRNA and protein were co-localized in the same cell types; OPG and RANKL were specially immunolocated in osteogenic cells; immunolabeling wa…

musculoskeletal diseasesCartilage Articularmedicine.medical_specialtyReceptors Cytoplasmic and NuclearIn situ hybridizationBiologyBone tissueReceptors Tumor Necrosis FactorBone remodelingOsteoprotegerinOsteogenesisInternal medicineBone cellmedicineHumansRNA MessengerEndochondral ossificationIn Situ HybridizationGlycoproteinsMembrane GlycoproteinsReceptor Activator of Nuclear Factor-kappa BTemporomandibular JointRANK LigandOsteoprotegerinCell BiologyGeneral MedicineImmunohistochemistryCell biologyEndocrinologymedicine.anatomical_structureRANKLIntramembranous ossificationbiology.proteinCarrier ProteinsDevelopmental BiologyTissuecell
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Osteoprotegerin: multiple partners for multiple functions.

2013

Osteoprotegerin (OPG) is an essential secreted protein in bone turnover due to its role as a decoy receptor for the Receptor Activator of Nuclear Factor-kB ligand (RANKL) in the osteoclasts, thus inhibiting their differentiation. However, there are additional ligands of OPG that confer various biological functions. OPG can promote cell survival, cell proliferation and facilitates migration by binding TNF-related apoptosis inducing ligand (TRAIL), glycosaminoglycans or proteoglycans. A large number of in vitro, pre-clinical and clinical studies provide evidences of OPG involvement in vascular, bone, immune and tumor biology. This review describes an overview of the different OPG ligands regu…

musculoskeletal diseasesCell SurvivalEndocrinology Diabetes and MetabolismImmunologyOsteoclastsGeneral Biochemistry Genetics and Molecular BiologyTNF-Related Apoptosis-Inducing LigandOsteoprotegerinImmunology and AllergyAnimalsHumansCell adhesionReceptorCell ProliferationbiologyActivator (genetics)Cell growthChemistryRANK LigandOsteoprotegerinCell DifferentiationIn vitroCell biologyBiochemistryRANKLbiology.proteinDecoyCytokinegrowth factor reviews
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Osteogenic differentiation of periodontal fibroblasts is dependent on the strength of mechanical strain

2012

Abstract Objective During orthodontic therapy the correct strength of mechanical strain plays a key role for bone remodelling during tooth movement. Aim of this study was to investigate the osteogenic differentiation of human periodontal ligament fibroblasts (HPdLF) depending on the applied strength of mechanical strain compared to osteoblasts (HOB). Design HPdLF and HOB were loaded with different strengths (1%, 5% and 10%) of static mechanical strain (SMS) for 12 h in vitro. Viability was verified by MTT and apoptosis by TUNEL assay. Gene expression of cyclin D1, collagen type-1 (COL-I), alkaline phosphatase (ALP), osteocalcin, osteoprotegerin (OPG) and receptor activator of the NF-κB liga…

musculoskeletal diseasesCell SurvivalPeriodontal LigamentGene ExpressionDentistryApoptosisEnzyme-Linked Immunosorbent AssayReal-Time Polymerase Chain ReactionCollagen Type IBone remodelingAndrologyCyclin D1OsteoprotegerinOsteogenesisIn Situ Nick-End LabelingHumansPeriodontal fiberCyclin D1RNA MessengerGeneral DentistryCells CulturedAnalysis of VarianceOsteoblastsTUNEL assaybiologybusiness.industryChemistryRANK LigandOsteoprotegerinCell DifferentiationCell BiologyGeneral MedicineFibroblastsAlkaline PhosphataseOtorhinolaryngologyRANKLOsteocalcinbiology.proteinAlkaline phosphataseStress MechanicalbusinessArchives of Oral Biology
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