Search results for "Clinical Report"

showing 10 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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PROSAIKA: A prospective multicenter registry with the first programmable gravitational device for hydrocephalus shunting

2015

Abstract Objective Cerebrospinal fluid (CSF) overdrainage is a major problem in shunt therapy for hydrocephalus. The adjustable gravitational valve proSA allows for the first time a targeted compensation for overdrainage in the upright position without interfering with the differential pressure valve. To evaluate benefit, safety and reliability, the multicenter prospective registry PROSAIKA was conducted in 10 German neurosurgical centers. Methods Between March 2009 and July 2010, 120 hydrocephalic patients undergoing first time shunt implantation or shunt revision using proSA entered the study. 93 patients completed the 12 months follow-up. Results Hydrocephalus symptoms were improved in 8…

AdultMalemedicine.medical_specialtyAdolescentDifferential pressureVentriculoperitoneal ShuntYoung Adult03 medical and health sciences0302 clinical medicineClinical reportCerebrospinal fluidmedicineHumansProspective StudiesRegistriesChildSurvival rateAgedAged 80 and overbusiness.industryInfantEquipment DesignGeneral MedicineMiddle Agedmedicine.diseaseShunt surgeryCerebrospinal Fluid Shunts3. Good healthHydrocephalusSurgeryShuntingChild Preschool030220 oncology & carcinogenesisEquipment FailureFemaleSurgeryNeurology (clinical)business030217 neurology & neurosurgeryShunt (electrical)Follow-Up StudiesGravitationHydrocephalusClinical Neurology and Neurosurgery
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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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Vertical preparation for fixed prosthesis rehabilitation in the anterior sector

2015

This clinical report describes a biologically oriented preparation technique (BOPT) for teeth and an implant for the esthetic rehabilitation of the maxillary anterior sector. The technique was designed to create an anatomic crown with a prosthetic emergence profile that simulated the shape of the natural tooth.

Fixed prosthesismedicine.medical_treatmentDentistryEsthetics DentalCrown (dentistry)Clinical reportstomatognathic systemMaxillamedicineDental Prosthesis DesignHumansRehabilitationCrownsbusiness.industryDental prosthesisMiddle AgedTooth Preparation ProsthodonticDental Restoration Temporarystomatognathic diseasesDental Prosthesis DesignFemaleDental Prosthesis Implant-SupportedNatural toothImplantOral SurgerybusinessThe Journal of Prosthetic Dentistry
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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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Long-term outcome of dental implants after maxillary augmentation with and without bone grafting

2016

Background: This study aims to evaluate the technique of sinus bone reformation, which consists of elevating the sinus membrane and placement the implant without bone graft, compared with the widely-used technique involving raising the maxillary sinus and grafting, using animal hydroxyapatite as the filler, while simultaneously fixing the implants. Material and Methods: This is a retrospective study on two groups of patients who underwent elevation of the sinus membrane and simultaneous placement of the implant. The grafting technique was applied to one group, while the other had no graft. An alveolar ridge height of 4 to 7 mm was necessary. Radiological control was undertaken at 6 months a…

Malebone graftingImmediateLiftTime FactorsSurvivalMaxillary sinusmedicine.medical_treatmentIntegrationSinus liftDentistryBone graftingPosterior maxillasinus membrane elevation0302 clinical medicineMedicineBone TransplantationImplant failureAlveolar Ridge AugmentationAlveolar Ridge AugmentationMiddle Aged:CIENCIAS MÉDICAS [UNESCO]Clinical reportCiencias de la saludmedicine.anatomical_structureTreatment Outcome030220 oncology & carcinogenesisBone formationUNESCO::CIENCIAS MÉDICASFemalemaxillary sinusOral SurgeryAdultOdontologíaOsseointegration03 medical and health sciencesFloor augmentationAlveolar ridgeHumansGeneral DentistryPlacementAgedRetrospective StudiesDental Implantsbusiness.industryResearchBovine bone030206 dentistryOtorhinolaryngologySurgeryImplantbusiness
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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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Radicular cyst in a primary molar following pulp therapy with gutta percha : a case report and literature review

2019

A radicular cyst (RC) in deciduous dentition is relatively rare. This clinical report presents a case of RC that condition derived from a primary molar undergone an endodontic treatment with gutta-percha approximately one year ago. In addition, we also considered whether intracanal medicaments and gutta-percha filling material related to the formation and development of the cyst or not. Key words:Primary tooth, radicular cyst, pulp therapy, gutta-percha filling material, intracanal medicament.

MolarDentistryCase ReportOperative Dentistry and Endodontics03 medical and health sciences0302 clinical medicineClinical reportstomatognathic systemmedicineCyst030223 otorhinolaryngologyGeneral DentistryRadicular Cystbiologybusiness.industry030206 dentistryGutta-percha:CIENCIAS MÉDICAS [UNESCO]Deciduous dentitionmedicine.diseasebiology.organism_classificationstomatognathic diseasesPulp therapyUNESCO::CIENCIAS MÉDICASPrimary Toothbusiness
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Reconstruction of a midfacial defect using an intraoral-extraoral combination prosthesis employing magnets: a clinical report

2012

Radical maxillectomy frequently leads to extended defects in hard and soft tissues that result in a connection between the oral cavities and orbit. If the defect cannot be surgically reconstructed, a combination prosthesis may be necessary to remedy dysfunction in patient function, comfort, esthetics. For minor defects, enlargement of the base of the intra oral prosthesis is generally sufficient. Resections that affect more than one third of the maxilla usually require an intra oral and an extra oral prosthesis that could be assembled and retained in the patient. This clinical report describes a technique of prosthetic rehabilitation of midfacial defect with a silicone orbital prosthesis an…

Orthodonticsmedicine.medical_specialtybusiness.industrymedicine.medical_treatmentSoft tissueCase ReportOdontología:CIENCIAS MÉDICAS [UNESCO]Ciencias de la saludProsthesisSurgerystomatognathic diseasesmedicine.anatomical_structureClinical reportClinical and Experimental DentistryMaxillaIntra oralUNESCO::CIENCIAS MÉDICASmedicineIn patientOrbital prosthesisbusinessGeneral DentistryOrbit (anatomy)Journal of Clinical and Experimental Dentistry
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Mild twin–twin transfusion syndrome: Clinical report.

2008

Pediatricsmedicine.medical_specialtyClinical reportbusiness.industryPediatrics Perinatology and Child HealthTransfusion twinsmedicineObstetrics and GynecologybusinessTwin Twin Transfusion Syndrome
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