Search results for "Marfan Syndrome"

showing 3 items of 23 documents

Periodontal disease associated to systemic genetic disorders

2007

A number of systemic disorders increase patient susceptibility to periodontal disease, which moreover evolves more rapidly and more aggressively. The underlying factors are mainly related to alterations in immune, endocrine and connective tissue status. These alterations are associated with different pathologies and syndromes that generate periodontal disease either as a primary manifestation or by aggravating a pre-existing condition attributable to local factors. This is where the role of bacterial plaque is subject to debate. In the presence of qualitative or quantitative cellular immune alterations, periodontal disease may manifest early on a severe localized or generalized basis - in s…

agranulocitosis infantil genéticasystemic alterationsEnfermedad periodontalDown syndromePapillon-Lefèvre syndromealteraciones sistémicas:CIENCIAS MÉDICAS [UNESCO]síndrome de Chediak-Higashiperiodontitis due to genetic alterationsperiodontitis por alteraciones genéticashyperimmunoglobulinemia Esíndrome de Marfansíndrome de hiperglobulinemia EMarfan syndromesevere congenital neutropenianeutropenia severa congénitaEhler-Danlos syndromesíndrome de Ehler-DanlosUNESCO::CIENCIAS MÉDICASsíndrome de Papillon-Lefévresíndrome de DownPeriodontal diseaseChediak-Higiashi syndromeinfantile genetic agranulocytosis
researchProduct

Spinal anaesthesia in a patient with post-spine surgery dural ectasia.

2013

Dural sac ectasia is a very infrequent anatomical abnormality, usually caused by connective tissue diseases, as Marfan syndrome. Very few cases have been described being a consequence of a previous spine surgical procedure. We describe the case of an elderly patient who should be operated on twice due to sub-occlusive colon disease. Surgery was performed under spinal anaesthesia. A dural sac ectasia was suspected after the first procedure and the abdominal X-ray was reviewed. The characteristics of the anatomical alteration and the course of both anaesthetic procedures were described. X-ray and CT images were provided.

musculoskeletal diseasesMarfan syndromeMalemedicine.medical_specialtymedicine.medical_treatmentDura materMegacolonPeritonitisCritical Care and Intensive Care MedicineAnesthesia SpinalFatal OutcomePostoperative ComplicationsEctasiaColostomySurgical Wound DehiscencemedicinePressureHumansColectomyInjections SpinalColectomyAbdomen AcuteAged 80 and overSigmoid DiseasesMegacolonbusiness.industryDural ectasiaColostomyLaminectomyLaminectomymedicine.diseaseBupivacaineCombined Modality TherapySurgeryAnti-Bacterial AgentsAnesthesiology and Pain Medicinemedicine.anatomical_structureDura MaterbusinessDilatation PathologicIntestinal VolvulusRevista espanola de anestesiologia y reanimacion
researchProduct

The revised ghent nosology; reclassifying isolated ectopia lentis

2014

Inherited ectopia lentis (EL) is most commonly caused by Marfan syndrome (MFS), a multisystemic disorder caused by mutations in FBN1. Historically the diagnosis for patients with EL who have no systemic features of MFS is isolated EL (IEL). However, the Ghent nosology for MFS was updated in 2010 and made some important alterations. In particular, patients with EL and a FBN1 mutation are now categorically diagnosed with MFS, if their mutation has previously been described with aortic dilation/dissection. This carries significant systemic implications, as many patients previously diagnosed with IEL are now reclassified. We provide a review of all published cases of IEL caused by FBN1 mutation…

musculoskeletal diseasesProbandMarfan syndromeNosologycongenital hereditary and neonatal diseases and abnormalitiesPediatricsmedicine.medical_specialtybusiness.industrymedicine.disease3. Good healthDissectionGeneticsMedicineIn patientChinese familyAortic dilationbusinessEctopia lentisGenetics (clinical)Clinical Genetics
researchProduct