Search results for "Genesis"

showing 10 items of 12136 documents

Cells of extramammary Paget's disease express cytokeratins different from those of epidermal cells.

1985

The patterns of expression of cytokeratin polypeptides which are closely correlated to routes of differentiation of epithelial cells were studied in extramammary Paget's disease. Cytokeratins of uninvolved and involved epidermis were analyzed by two-dimensional gel electrophoresis of microdissected tissue preparations as well as by immunofluorescence microscopy using cytokeratin antibodies with different specificities. In uninvolved epidermis, cytokeratins Nos. 1, 5, 6, 10, 11, 14, and 16, characteristic of keratinocytes, were found. Epidermis infiltrated by Paget's cells contained the same components and, in addition, cytokeratins Nos. 7, 8, 18, and 19, the latter being characteristic of s…

musculoskeletal diseasesMalePathologymedicine.medical_specialtySkin NeoplasmsDuctal cellsCellular differentiationFluorescent Antibody TechniqueDermatologyHistogenesisBiologyExtramammary Paget's diseaseBiochemistryCytokeratinotorhinolaryngologic diseasesmedicineHumansMolecular BiologyAgedSkinEpidermis (botany)Staining and LabelingApocrineCell Biologymedicine.diseasemedicine.anatomical_structurePaget Disease ExtramammaryKeratinsKeratinocytePeptidesImmunoelectrophoresis Two-DimensionalThe Journal of investigative dermatology
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Presence of Serum Antinuclear Antibodies Does Not Impact Long-Term Outcomes in Nonalcoholic Fatty Liver Disease

2020

Introduction We investigated the longitudinal impact of antinuclear antibody (ANA) on clinical outcomes and survival in nonalcoholic fatty liver disease (NAFLD). Methods ANA were found in 16.9% of 923 biopsy-proven NAFLD patients, but none of them had histologic autoimmune hepatitis (AIH) or developed AIH after a mean follow-up of 106±50 months. Results Although ANA-positive cases had a higher prevalence of nonalcoholic steatohepatitis at baseline, the occurrence of liver-related events, hepatocellula carcinoma, cardiovascular events, extrahepatic malignancy, and overall survival were similar to ANA-negative. Discussion Once AIH has been ruled out, the long-term outcomes and survival are un…

musculoskeletal diseasesMalemedicine.medical_specialtyAntibodies Antinuclear; Biopsy; England; Female; Humans; Italy; Longitudinal Studies; Male; Middle Aged; Non-alcoholic Fatty Liver Disease; Prevalence; Prospective Studies; Survival AnalysisAnti-nuclear antibodyBiopsySettore MED/12 - GASTROENTEROLOGIAAntibodies Antinuclear Biopsy EnglandFemale Humans Italy Longitudinal Studies Male Middle Aged Non-alcoholic Fatty Liver Disease Prevalence Prospective StudiesSurvival AnalysisAutoimmune hepatitisMalignancyGastroenterologyAntibodies03 medical and health sciences0302 clinical medicineimmune system diseasesNon-alcoholic Fatty Liver DiseaseInternal medicineAntinuclearBiopsyNonalcoholic fatty liver diseasemedicineCarcinomaPrevalenceHumansLongitudinal StudiesProspective Studiesskin and connective tissue diseasesProspective cohort studySurvival analysisHepatologymedicine.diagnostic_testbusiness.industryGastroenterologyMiddle Agedmedicine.diseaseSurvival Analysisdigestive system diseases3. Good healthstomatognathic diseasesn/aEnglandItaly030220 oncology & carcinogenesisAntibodies Antinuclear030211 gastroenterology & hepatologyFemalebusiness
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FGFR2mutation in 46,XY sex reversal with craniosynostosis

2015

Patients with 46,XY gonadal dysgenesis (GD) exhibit genital anomalies, which range from hypospadias to complete male-to-female sex reversal. However, a molecular diagnosis is made in only 30% of cases. Heterozygous mutations in the human FGFR2 gene cause various craniosynostosis syndromes including Crouzon and Pfeiffer, but testicular defects were not reported. Here, we describe a patient whose features we would suggest represent a new FGFR2-related syndrome, craniosynostosis with XY male-to-female sex reversal or CSR. The craniosynostosis patient was chromosomally XY, but presented as a phenotypic female due to complete GD. DNA sequencing identified the FGFR2c heterozygous missense mutatio…

musculoskeletal diseasesMalemedicine.medical_specialtyGonadAdolescentDNA Mutational AnalysisMutation MissenseGonadal dysgenesisBiologymedicine.disease_causeCraniosynostosisXY gonadal dysgenesisCraniosynostosesMiceInternal medicineGeneticsmedicineAnimalsHumansMissense mutationGene Knock-In TechniquesReceptor Fibroblast Growth Factor Type 2Molecular BiologyGenetics (clinical)Gonadal Dysgenesis 46XYGeneticsMutationArticlesSyndromeGeneral MedicineSex reversalmedicine.diseaseMice Mutant StrainsDisease Models AnimalEndocrinologymedicine.anatomical_structurePfeiffer syndromeFemaleHuman Molecular Genetics
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High frequency of lumbar fusion in patients denied surgical treatment of the sacroiliac joint.

2019

Purpose: Effective treatment of medical conditions relies on proper diagnosis. Clinical trials show the safety and effectiveness of sacroiliac joint (SIJ) fusion in patients with chronic SI joint dysfunction. To what extent is the condition under recognised? Objective: To determine whether under recognition of SIJ pain affects healthcare trajectories in Spanish patients with low back pain. Methods: Retrospective study of characteristics and consequences of 189 patients with persistent SIJ pain seen in an outpatient neurosurgery clinic. Results: Patients with SIJ pain who were denied surgical treatment had a longer pain duration, higher likelihood of prior lumbar fusion, and a high rate (63%…

musculoskeletal diseasesMalemedicine.medical_specialtyTime FactorsSacroiliac joint pain03 medical and health sciences0302 clinical medicineLumbarCirurgia operatòriamedicineEffective treatmentHumansIn patientSurgical treatmentRetrospective StudiesSacroiliac jointbusiness.industryLumbosacral RegionSacroiliac JointGeneral MedicineMiddle AgedLow back painArthralgiaSurgeryClinical trialmedicine.anatomical_structureSpinal FusionTreatment Outcome030220 oncology & carcinogenesisSurgeryFemaleNeurology (clinical)Lumbàlgiamedicine.symptomChronic PainbusinessLow Back Pain030217 neurology & neurosurgeryBritish journal of neurosurgery
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A real life comparison of the effectiveness of adalimumab and golimumab in moderate-to-severe ulcerative colitis, supported by propensity score analy…

2018

Abstract Background Adalimumab and golimumab are effective in the treatment of moderate to severe ulcerative colitis. Aims We reported the comparative effectiveness of adalimumab and golimumab in ulcerative colitis. Methods 118 patients treated with adalimumab and 79 treated with golimumab were included and evaluated at 8 weeks and at the end of follow up. Results Overall clinical benefit was 72.6% at 8 weeks and 58.9% at the end of follow up. Patients with longer disease duration and those treated with adalimumab had a better outcome. Clinical benefit was 78.8% in adalimumab patients and 63.3% in golimumab patients (p = 0.026) after 8 weeks; it was 66.9% in adalimumab patients and 46.8% in…

musculoskeletal diseasesModerate to severeAdultMalemedicine.medical_specialtySettore MED/09 - Medicina InternaBiologicDisease durationAdalimumab; Biologics; Golimumab; Ulcerative colitis; Adalimumab; Adult; Antibodies Monoclonal; Colitis Ulcerative; Female; Humans; Italy; Logistic Models; Male; Middle Aged; Propensity Score; Proportional Hazards Models; Severity of Illness Index; Treatment Outcome; Tumor Necrosis Factor-alphaUlcerativeBiologicsGolimumabSeverity of Illness IndexTreatment failureAntibodies03 medical and health sciences0302 clinical medicineInternal medicineMonoclonalAdalimumabmedicineHumansskin and connective tissue diseasesAdalimumab; Biologics; Golimumab; Ulcerative colitis; Hepatology; GastroenterologyPropensity ScoreProportional Hazards ModelsHepatologybusiness.industryTumor Necrosis Factor-alphaGastroenterologyAdalimumabAntibodies MonoclonalMiddle Agedmedicine.diseaseColitisUlcerative colitishumanitiesGolimumabLogistic ModelsTreatment OutcomeUlcerative colitisItaly030220 oncology & carcinogenesisPropensity score matching030211 gastroenterology & hepatologyColitis UlcerativeFemalebusinessmedicine.drug
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Musculoskeletal Pain in Gymnasts: A Retrospective Analysis on a Cohort of Professional Athletes

2021

Gymnastics athletes are exposed to a high risk of injury, but also of developing musculoskeletal pain. These data are still little investigated in the available scientific literature. An online survey was distributed to 79 professional athletes who practiced artistic and rhythmic gymnastics. The survey collected demographic and anthropometric data, information about the sport practice, the training sessions, the prevalence of musculoskeletal pain gymnastics-related, and lifestyle habits. Musculoskeletal pain had a high prevalence, involving 65 of 79 athletes (82.3%). A significant correlation was found between musculoskeletal pain and the duration of sports practice, both for general pain (…

musculoskeletal diseasesMusculoskeletal painmedicine.medical_specialtyGymnasticsinjury preventionHealth Toxicology and MutagenesisWrist painoveruseSittingArticlesitting position03 medical and health sciences0302 clinical medicineMusculoskeletal PainInjury preventionmedicineHumanswrist painRight ThighRetrospective StudiesbiologyAthletesbusiness.industryIncidence (epidemiology)RPublic Health Environmental and Occupational Health030229 sport sciencesbiology.organism_classificationAthletesAthletic InjuriesCohortPhysical therapyMedicinemedicine.symptombusinessoverload traininghuman activities030217 neurology & neurosurgeryInternational Journal of Environmental Research and Public Health
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Influence of Drilling Technique on the Radiographic, Thermographic, and Geomorphometric Effects of Dental Implant Drills and Osteotomy Site Preparati…

2020

The aim of this comparative study is to analyze the influence of drilling technique on the radiographic, thermographic, and geomorphometric effects of dental implant drills and osteotomy site preparations. One hundred and twenty osteotomy site preparations were performed on sixty epoxy resin samples using three unused dental implant drill systems and four drilling techniques performed with a random distribution into the following study groups: Group A: drilling technique performed at 800 rpm with irrigation (n = 30)

musculoskeletal diseasesOsteotomy siteCone beam computed tomographymedicine.medical_treatmentRadiographyeducationlcsh:MedicineOsteotomyArticle03 medical and health sciences0302 clinical medicineotorhinolaryngologic diseasesmedicineheat generationdrill coolingDental implantOrthodonticsDrillbusiness.industrylcsh:RDrilling030206 dentistryGeneral Medicinedental implants drillsequipment and supplieslow drilling speed030220 oncology & carcinogenesisHeat generationbusinessosteotomyJournal of Clinical Medicine
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Functional characterization of osteosarcoma cell lines provides representative models to study the human disease

2011

Cancer cell lines represent in vitro models for studying malignancies, general cell biology, drug discovery and more. Whether they can be considered as exact representative models of the parental tumors remains uncertain given the acquisition of additional ex vivo changes of the cells and the lack of tissue architecture and stroma. Previously, within the EuroBoNeT consortium, we characterized a collection of bone sarcoma cell lines on genomic and proteomic level. Here, we address the phenotypical and functional characterization of the unique set of osteosarcoma cell lines (n=19) in vitro and in vivo. For functional analysis of differentiation capacity, cells were stimulated towards osteobla…

musculoskeletal diseasesPathologymedicine.medical_specialtyMice NudeBone NeoplasmsBiologymedicine.disease_causePathology and Forensic MedicineMiceHuman diseasecontaminationU2OSCell Line TumorMNNGmedicineoriginAnimalsHumansNeoplasm MetastasisneoplasmsMolecular BiologyOsteosarcomaGene Expression ProfilingHOSCell DifferentiationCell Biologymedicine.diseaseImmunohistochemistrytumorigenesisCell cultureCancer geneticsCancer researchOsteosarcomamisidentificationSarcoma ExperimentalSarcomaCarcinogenesisNeoplasm Transplantation
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Intestinal dysbiosis and hormonal neuroendocrine secretion in the fibromyalgic patient

2018

Fibromyalgia is a rheumatic syndrome and its pathogenesis is controversial. The recent literature has placed considerable attention on the link between alteration of the intestinal microbiota and fibromyalgia, emphasizing the close connection between the neuroenteric system and the CNS. This study aims to evaluate the probable relationship between intestinal dysbiosis and altered secretion of hormones and vitamins such as cortisol, serotonin, Vitamin D and thyroid hormones in a patient with fibromyalgia.

musculoskeletal diseasesPhysiologylcsh:MedicineIntestinal dysbiosiscortisolGeneral Biochemistry Genetics and Molecular BiologyPathogenesis03 medical and health sciences0302 clinical medicineFibromyalgiaVitamin D and neurologymicrobiotaMedicineSecretion030203 arthritis & rheumatologyhormonesbusiness.industrylcsh:Rvitamin ddysbiosismedicine.diseasehumanitiesserotoninfibromyalgiaSerotoninbusinessDysbiosis030217 neurology & neurosurgeryHormoneBiomedical Papers
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Trastuzumab-emtansine induced pleural and pericardial effusions

2021

Introduction Trastuzumab emtansine (T-DM1) is an antibody-drug conjugate which combine trastuzumab (T), a monoclonal antibody targeting the human epidermal growth factor receptor-2 (HER2), and a cytotoxic molecule derived from maytansine (DM1). Case report We report the first case of T-DM1-associated pleural and pericardial effusions three weeks after the second course of T-DM1 in a patient with breast cancer. Drug-induced pleural and pericardial effusions was implicated in the absence of other etiologies. The Naranjo Scale indicated a probable drug-induced adverse reaction. Management & outcome: The patient fully recovered after thoracentesis and discontinuation of T-DM1. The patient h…

musculoskeletal diseasesReceptor ErbB-2medicine.drug_classBreast NeoplasmsAdo-Trastuzumab EmtansineAntibodies Monoclonal HumanizedMonoclonal antibodyPericardial effusionPericardial Effusion03 medical and health scienceschemistry.chemical_compound0302 clinical medicineTrastuzumabmedicineHumansMaytansinePharmacology (medical)business.industryHuman epidermal growth factorTrastuzumabmedicine.diseaseOncologychemistryTrastuzumab emtansine030220 oncology & carcinogenesisCancer researchFemalebusiness030215 immunologymedicine.drugConjugateJournal of Oncology Pharmacy Practice
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