Search results for "Clinical Report"

showing 5 items of 15 documents

A novel GABRB3 variant in Dravet syndrome: Case report and literature review

2020

Abstract Background Mutations in GABRB3 have been identified in subjects with different types of epilepsy and epileptic syndromes, including West syndrome (WS), Dravet syndrome (DS), Lennox‐Gastaut syndrome (LGS), myoclonic‐atonic epilepsy (MAE), and others. Methods and results We herewith report on a girl affected by DS, who has been followed from infancy to the current age of 18 years. Next‐generation sequencing (NGS)‐based genetic testing for multigene analysis of neurodevelopmental disorders identified two likely de novo pathogenic mutations, a missense variant in GABRB3 gene (c.842 C>T; p.Thr281IIe) and a nonsense variant found in BBS4 gene (c.883 C>T; p.Arg295Ter). Conclusion A likely…

0301 basic medicinelcsh:QH426-470media_common.quotation_subjectNonsenseMutation MissenseEpilepsies Myoclonic030105 genetics & hereditymedicine.disease_causeClinical ReportsBBS4 gene03 medical and health sciencesEpilepsyDravet syndromeGeneticsMedicineMissense mutationHumansMolecular BiologyGeneGenetics (clinical)media_commonGenetic testingGeneticsMutationClinical Reportmedicine.diagnostic_testbusiness.industryGABRB3 GeneEpileptic EncephalopathiesWest Syndromemedicine.diseaseReceptors GABA-ADravet syndromelcsh:Genetics030104 developmental biologyPhenotypeCodon NonsenseChild PreschoolFemalebusinessMicrotubule-Associated Proteins
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Improving PMMA resin using graphene oxide for a definitive prosthodontic rehabilitation - A clinical report

2019

The use of acrylic resins as a definitive material has shown some advantages comparing to other definitive materials. However, their poor mechanical properties remain a major drawback. In this case report, graphene oxide (GO) was incorporated into polymethyl methacrylate (PMMA) resin for a definitive maxillary rehabilitation, combined with an intraoral digital impression and a three-dimensional facial scan. After 8 months of the placement of the definitive prosthesis, no mechanical, aesthetic, or biologic complications were reported, and the soft tissues showed excellent health and stability. The incorporation of GO in PMMA resins seems to be a suitable option for prosthetic rehabilitation.…

Materials sciencemedicine.medical_treatmentOxideDentistryCase ReportProsthesislaw.invention03 medical and health scienceschemistry.chemical_compound0302 clinical medicineClinical reportlawmedicineDental Impression TechniqueGeneral DentistryAcrylic resin030304 developmental biologyProsthetic Dentistry0303 health sciencesbusiness.industryGrapheneDental prosthesistechnology industry and agriculture030206 dentistry:CIENCIAS MÉDICAS [UNESCO]Impressionchemistryvisual_artUNESCO::CIENCIAS MÉDICASvisual_art.visual_art_mediumbusinessJournal of Clinical and Experimental Dentistry
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A systematic approach to medical decision-making of uncommon clinical pictures: A case of ulcerative skin lesions by palm tree thorn injury and a one…

2005

In clinical practice, the clinician is challenged with symptoms and/or signs at times apparently insoluble by diagnostic and/ or therapeutic means. We propose that in these cases, we have to use an EBM approach in which evidence may be looked up in every available clinical report and bibliographic databases are used for searching that evidence. We report on a case of ulcerative skin lesions apparently insoluble by expert dermatologists following a conventional diagnostic and therapeutic process. We use this case report for illustrating a systematic approach to resolve diagnostic and therapeutic questions using a bibliographic database search (like MEDLINE and EMBASE). Both a systematic appr…

AdultMalemedicine.medical_specialtyPathologyOne year follow upmedical decision-makingMEDLINEDecision MakingAlternative medicineMEDLINEthorn injuryulcerative skin lesionWounds PenetratingHealth InformaticsDiagnosis DifferentialClinical reportHealth Information Managementuncommon clinical picturemedicineHumansIntensive care medicineGeneral NursingLegEvidence-Based Medicinebusiness.industryLeg UlcerMedical decision makingDatabases BibliographicBibliographic databasepalm treeItalyPalmbusinessSkin lesionMedical InformaticsMedical Informatics and the Internet in Medicine
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Severe tetracycline dental discoloration: Restoration with conventional feldspathic ceramic veneers. A clinical report

2017

The treatment of severe tetracycline discoloration is a challenge for the dentist. There are several treatment options and one of the most effective is the use of feldspathic veneers. The aim of this clinical case was to carry out the replacement with conventional feldspathic ceramic veneers on a patient with highly stained teeth (grade IV tetracycline) by a minimally invasive approach. Clinical examination revealed gingival retraction, color change of the veneers, ceramic cracked of 1.1 and 1.3 and incisal wear in lower anterior teeth. The decision was to retreat with feldspathic ceramic veneers from 1.6 to 2.6. Premolars and first molars were included because its dark color intensifies th…

Lower anteriorMolarbusiness.industryPorcelain VeneerDentistryTreatment optionsCase Report030206 dentistryEsthetic Dentistry:CIENCIAS MÉDICAS [UNESCO]Stained teethFeldspathic ceramic03 medical and health sciences0302 clinical medicineClinical report030220 oncology & carcinogenesisUNESCO::CIENCIAS MÉDICASMedicineClinical casebusinessGeneral DentistryJournal of Clinical and Experimental Dentistry
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A tooth whitening and chemical abrasive protocol for the treatment of developmental enamel defects

2018

Abstract This clinical report describes a chemical abrasive protocol and whitening techniques to quantify modifications to the color and volume produced when eliminating white spots associated with developmental defects in enamel. Chemical (oxidative-erosive) abrasive treatment (whitening + 6.6% hydrochloric acid) resolves white spots up to a depth of 0.2 mm. At greater depths, infiltration with 16% hydrochloric acid followed by composite resin infiltration is recommended.

Tooth whiteningMaterials scienceEnamel paintEnamel defectsAbrasiveHydrochloric acid030206 dentistryDental Cariesmedicine.diseaseComposite Resins03 medical and health scienceschemistry.chemical_compound0302 clinical medicineClinical reportchemistryvisual_artTooth Bleachingmedicinevisual_art.visual_art_mediumHumansWhite SpotsOral SurgeryDental EnamelInfiltration (medical)Biomedical engineeringThe Journal of Prosthetic Dentistry
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