Search results for " Dysplasia"

showing 10 items of 206 documents

Hemispheric cerebellar rTMS to treat drug-resistant epilepsy: case reports.

2005

Electrical stimulation of the cerebellar cortex by implanted electrodes has been shown to ameliorate refractory epilepsy. We investigated the potential therapeutic role of high-frequency cerebellar rTMS in patients affected by refractory epilepsy due to single or multiple foci. Six patients, three with single and three with multiple epileptic foci, underwent 20 rTMS sessions. Each session was given daily, excluding weekends, and consisted of two trains of 50 stimuli (5 Hz frequency and 90% motor threshold intensity), separated by 50s interval. rTMS was delivered through a focal coil (2 cm below and lateral to the inion) bilaterally in patients with multiple foci (two trains for hemisphere: …

AdultMaleCerebellumFocus (geometry)cerebellummedicine.medical_treatmentDrug Resistancebehavioral disciplines and activitiesCentral nervous system diseaseEpilepsyCerebellar Cortexdrug-resistant epilepsymental disordersrTMSmedicineHumansEpilepsymusculoskeletal neural and ocular physiologyGeneral NeuroscienceDRECortical dysplasiamedicine.diseaseDrug Resistant EpilepsyTranscranial Magnetic StimulationTranscranial magnetic stimulationmedicine.anatomical_structurenervous systemAnesthesiaCerebellar cortexSettore MED/26 - NeurologiaFemalePsychologypsychological phenomena and processesNeuroscience letters
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An evaluation of clinical, radiological and three-dimensional dental tomography findings in ectodermal dysplasia cases

2015

Background:This study aimed to review the results related to head and jaw disorders in cases of ectodermal dysplasia. The evaluation of ectodermal dysplasia cases was made by clincal examination and examination of the jaw and facial areas radiologically and on cone-beam 3-dimensional dental tomography (CBCT) images. Material and Methods: In the 36 cases evaluated in the study, typical clinical findings of pure hypohidrotic ectodermal displasia (HED) were seen, such as missing teeth, dry skin, hair and nail disorders. CBCT images were obtained from 12 of the 36 cases, aged 1.5- 45 years, and orthodontic analyses were made on these images. Results: The clinical and radiological evaluations de…

AdultMaleEctodermal dysplasiaAdolescentSaddle noseTooth resorptionDentistryOdontologíaEctodermal dysplasiaOligodontiathree-dimensional dental tomographyYoung AdultGingivitisImaging Three-Dimensionalstomatognathic systemmedicineHumansChildGeneral DentistryRetrospective StudiesEctodermal dysplasia three-dimensional dental tomographyHypopigmentationbusiness.industryResearchStomatognathic DiseasesInfantCone-Beam Computed TomographyMiddle AgedMedically compromised patients in Dentistry:CIENCIAS MÉDICAS [UNESCO]medicine.diseaseCiencias de la saludstomatognathic diseasesHypodontiamedicine.anatomical_structureOtorhinolaryngologyChild PreschoolUNESCO::CIENCIAS MÉDICASNail (anatomy)FemaleSurgerymedicine.symptombusinessMedicina Oral Patología Oral y Cirugia Bucal
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Histopathological characterization of the oral lichenoid disease subtypes and the relation with the clinical data

2016

Background: The aim of the study was to analyze the histopathological characteristics of samples with a diagnosis of oral lichenoid disease (OLD) and their link with the location and the type of clinical lesion, and the clinicopathological subtypes.

AdultMaleEpithelial dysplasiaPathologymedicine.medical_specialtyPrecancerous conditionsHyperkeratosisOral medicineLesion03 medical and health sciences0302 clinical medicineHistology PathologicalBiopsyOral and maxillofacial pathologyCarcinomaMedicineHumansGeneral DentistryAgedRetrospective StudiesAged 80 and overOral Medicine and Pathologymedicine.diagnostic_testbusiness.industryResearchMouth -- Diseases -- DiagnosisRetrospective cohort study030206 dentistryMiddle Agedmedicine.disease:CIENCIAS MÉDICAS [UNESCO]stomatognathic diseasesOtorhinolaryngology030220 oncology & carcinogenesisDentistryUNESCO::CIENCIAS MÉDICASSurgeryFemaleDifferential diagnosismedicine.symptombusinessLichen Planus Oral
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Stromal myofibroblasts in oral leukoplakia and oral squamous cell carcinoma

2011

Objectives: Oral leukoplakia (OL) is the main potentially malignant disorder and oral squamous cell carcinoma (OSCC) is the most common malignancy of the oral mucosa. Stromal myofibroblasts play an important role in tumor invasion and metastasis, due to its ability to modify the extracellular matrix. This study aimed to evaluate the presence of stromal myofibroblasts in OL and OSCC. Differences in the presence of myofibroblasts among OL with distinct grades of epithelial dysplasia as well as between histologically high- and low-invasive OSCC were also assessed. Study Design: A total of 30 OL and 41 OSCC from archival formalin-fixed, paraffin-embedded specimens were evaluated. 10 samples of …

AdultMaleEpithelial dysplasiaPathologymedicine.medical_specialtyStromal cellMetastasisCarcinomaMedicineHumansOral mucosaMyofibroblastsGeneral DentistryLeukoplakiaAgedMouth neoplasmAged 80 and overOral Medicine and Pathologybusiness.industryMiddle Agedmedicine.disease:CIENCIAS MÉDICAS [UNESCO]stomatognathic diseasesmedicine.anatomical_structureOtorhinolaryngologyUNESCO::CIENCIAS MÉDICASCarcinoma Squamous CellImmunohistochemistrySurgeryFemaleMouth NeoplasmsResearch-ArticleLeukoplakia Oralbusiness
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Direct visualization of oral-cavity tissue fluorescence as novel aid for early oral cancer diagnosis and potentially malignant disorders monitoring.

2011

Direct visualization of the oral tissue autofluorescence has been recently reviewed in several studies as a possible adjunctive tool for early recognition and diagnosis of potentially malignant and malignant oral disorders. The aims of this study were to assess: a) the value of a simple handheld device for tissue auto-fluorescence visualization of potentially malignant oral lesions; and b) the sensitivity, specificity and diagnostic accuracy of tested device, using histological examination as the gold standard. 175 consecutive patients, with at least one clinical oral lesion, were enrolled in the study. Clinical conventional inspections were performed for each patient by two blind operator…

AdultMaleMild DysplasiaPathologymedicine.medical_specialtyEpithelial dysplasiaImmunologySettore MED/50 - Scienze Tecniche Mediche ApplicateautofluorescenceFluorescenceYoung Adultoral lichen planusPredictive Value of TestsOPMD fluorescenceSettore MED/28 - Malattie OdontostomatologicheBiopsyepithelial dysplasiamedicineHumansImmunology and AllergyEarly Detection of CancerAgedLeukoplakiaAged 80 and overPharmacologyMouthmedicine.diagnostic_testbusiness.industryDiagnosis OralMiddle Agedoral cancermedicine.diseaseautofluorescence; epithelial dysplasia; leukoplakia; oral cancer; oral lichen planus;stomatognathic diseasesDysplasialeukoplakiaFemaleMouth NeoplasmsHistopathologyOral lichen planusbusinessPrecancerous ConditionsOral medicine
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Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

2006

Skeletal dysplasias are difficult to diagnose for the nonexpert. In a previous study of patients with multiple epiphyseal dysplasia (MED), we identified cartilage oligomeric matrix protein (COMP) mutations in only 36% of cases and suspected that the low-mutation detection rate was partially due to misdiagnosis. We therefore instituted a clinical–radiographic review system, whereby all cases were evaluated by a panel of skeletal dysplasia experts (European Skeletal Dysplasia Network). Only those patients in whom the diagnosis of MED was confirmed by the panel were screened for mutations. Under this regimen the mutation detection rate increased to 81%. When clinical–radiological diagnostic cr…

AdultMaleMutation ratemedicine.medical_specialtyDNA Mutational AnalysisCartilage Oligomeric Matrix ProteinOsteochondrodysplasiasArticleMultiple epiphyseal dysplasiaGeneticsmedicineHumansMatrilin ProteinsGenetic TestingGenetics (clinical)Genetic testingGlycoproteinsCartilage oligomeric matrix proteinExtracellular Matrix Proteinsmedicine.diagnostic_testbiologybusiness.industryCartilageMiddle Agedmedicine.diseaseRadiographyRegimenmedicine.anatomical_structureDysplasiaChild PreschoolMutation (genetic algorithm)Mutationbiology.proteinFemaleRadiologybusiness
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3T Double Inversion Recovery Magnetic Resonance Imaging: diagnostic advantages in the evaluation of cortical development anomalies

2016

Abstract Purpose The aim of this work was to investigate the diagnostic value of the DIR sequence at 3T MR imaging operating in the evaluation of cortical development anomalies. Methods We studied 40 patients, with a previous diagnosis of cortical dysplasia, by FLAIR-3D, DIR, FSE T2 and MPR-GE T1 sequences at 3T MRI. Two independent observers evaluated, for each sequence and lesion, some semiological aspects (cortical thickness, cortical signal intensity, white-gray matter blurring, subcortical white matter intensity). We made also a quantitative evaluation of the cortical signal intensity in lesion site, drawing a ROI on each MRI sequences and comparing them to the correspondent normal con…

AdultMalePathologymedicine.medical_specialty030218 nuclear medicine & medical imagingWhite matter03 medical and health sciences0302 clinical medicineNuclear magnetic resonancePolimicrogyriamedicineHumansRadiology Nuclear Medicine and imagingProspective StudiesCortical dysplasia; DIR; Epilepsy; Polimicrogyria; Taylor; Tuberous sclerosisCerebral CortexDIRCortical dysplasiaEpilepsymedicine.diagnostic_testbusiness.industryTuberous sclerosisSignificant differenceReproducibility of ResultsMagnetic resonance imagingGeneral MedicineMiddle AgedCortical dysplasiamedicine.diseaseMagnetic Resonance ImagingIntensity (physics)DIR Epilepsy Cortical dysplasia Taylor Tuberous sclerosis PolimicrogyriaMalformations of Cortical DevelopmentTaylormedicine.anatomical_structureWhite matter hyperintensityFemaleDouble inversion recoverybusiness030217 neurology & neurosurgeryLesion siteEuropean Journal of Radiology
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Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.

2003

Multiple epiphyseal dysplasia (MED) is a generalised skeletal dysplasia that although relatively mild is associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. In the past, the disorder was subdivided into the milder Ribbing type, usually with flattened epiphyses,1 and the more severe Fairbank type with round epiphyses,2 but many cases were not classifiable as clearly either type.3 MED can be caused by mutations in at least six separate genes: COMP ,4–7 collagen IX ( COL9A1 , COL9A2 , and COL9A3 ),8–13 matrilin 3 ( MATN3 ),15 and the sulphate transporter, DTDST ( DTDST/SLC26A2 ). We have previously repor…

AdultMalePathologymedicine.medical_specialtyAdolescentAnion Transport ProteinsGenes RecessiveBiologySLC26A2ArginineOsteochondrodysplasiasShort statureMultiple epiphyseal dysplasiaGeneticsmedicineHumansChildGenetics (clinical)GeneticsAchondrogenesisSulfatesPoint mutationHomozygoteTryptophanChromosome MappingMembrane Transport ProteinsBiological TransportMiddle Agedmedicine.diseasePhenotypeGenetic defects of metabolism [UMCN 5.1]Amino Acid SubstitutionDysplasiaSulfate TransportersMutation (genetic algorithm)MutationMutation testingbiology.proteinFemalemedicine.symptomCarrier ProteinsLetter to JMGJournal of medical genetics
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Histopathological findings in oral lichen planus and their correlation with the clinical manifestations

2010

Objectives: To highlight the most characteristic histopathological findings of oral lichen planus and their correlation with the clinical manifestations and forms. Study design: We performed a retrospective study of 50 biopsied and diagnosed cases of oral lichen planus obtained over a period of 11 years, spanning from May 1998 to April 2009. We analyzed the age and sex of the patient, type of lichen planus, location and different histopathological findings, comparing them with the clinical lesions. Results: Seventy eight percent of the patients are female and 22% are male, with an average age of 56.06 years for both sexes. The most frequent clinical form is reticular, present in 78% of the …

AdultMalePathologymedicine.medical_specialtyEpithelial dysplasiaHyperkeratosisAcanthosisHydropic degenerationstomatognathic systemOral and maxillofacial pathologymedicineAtypiaHumansskin and connective tissue diseasesGeneral DentistryAgedRetrospective StudiesAged 80 and overintegumentary systembusiness.industryMiddle AgedHyperplasia:CIENCIAS MÉDICAS [UNESCO]medicine.diseasestomatognathic diseasesOtorhinolaryngologyUNESCO::CIENCIAS MÉDICASFemaleSurgeryOral lichen planusbusinessLichen Planus Oral
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Immunohistochemical expression of EGFR in oral leukoplakia: Association with clinicopathological features and cellular proliferation

2012

Objectives: to investigate the immunoexpression of epidermal growth factor receptor (EGFR) in a sample of oral leukoplakias (OL) and to determine the receptor’s association with dysplasia, tobacco consumption, lesion site, and proliferation rate. Although EGFR should be overexpressed in some oral leukoplakias, the factors that may interfere with this expression and the influence of this receptor on epithelial proliferation have yet to be investigated. Study Design: Samples of oral leukoplakias (48) and of normal oral epithelium (10) were immunohistologically examined for expression of EGFR. Immunohistochemistry for Ki-67, and p27 were also performed in leukoplakias. EGFR expression was asso…

AdultMalePathologymedicine.medical_specialtyEpithelial dysplasiaYoung Adultstomatognathic systemOral and maxillofacial pathologymedicineHumansEpidermal growth factor receptorGeneral DentistryPathologicalAgedCell ProliferationLeukoplakiaOral Medicine and Pathologybiologybusiness.industryMiddle Aged:CIENCIAS MÉDICAS [UNESCO]medicine.diseaseImmunohistochemistryErbB Receptorsstomatognathic diseasesOtorhinolaryngologyDysplasiaKi-67UNESCO::CIENCIAS MÉDICASbiology.proteinImmunohistochemistryResearch-ArticleFemaleSurgeryLeukoplakia OralbusinessMedicina Oral Patología Oral y Cirugia Bucal
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