2024
Disorders with Ophthalmic and Thoracic Involvement.
Gosangi B, Lang P, Johnson M, Zukerman R, Tu L, Traube L, Bader A, Rubinowitz A. Disorders with Ophthalmic and Thoracic Involvement. RadioGraphics 2024, 44: e230132. PMID: 38870047, DOI: 10.1148/rg.230132.Peer-Reviewed Original ResearchConceptsClinical manifestationsExamination of family membersEhlers-Danlos syndromeAffecting patient outcomesAcute sarcoidosisOphthalmologic examinationThoracic symptomsDry eyeThoracic involvementOphthalmological symptomsOphthalmologic manifestationsEye symptomsMarfan syndromeSjogren's syndromeImaging findingsRadiological studiesLung diseasePatient outcomesEhlers-DanlosFamily membersMultimodal imagingSystem conditionsSyndromeThoracicSarcoidosis
2023
FKBP14 kyphoscoliotic Ehlers–Danlos syndrome misdiagnosed as Larsen syndrome: a case report
Wiegand A, Kastury R, Neogi A, Mani A, Bale A, Cox A. FKBP14 kyphoscoliotic Ehlers–Danlos syndrome misdiagnosed as Larsen syndrome: a case report. Molecular Case Studies 2023, 9: a006281. PMID: 37433679, PMCID: PMC10393184, DOI: 10.1101/mcs.a006281.Peer-Reviewed Original ResearchConceptsHereditary connective tissue disordersConnective tissue disordersKyphoscoliotic Ehlers-Danlos syndromeTissue disordersEhlers-Danlos syndromeLarsen syndromeClinical diagnosisGenetic testingHereditary cancer predisposition syndromesSignificant vascular eventsPremenopausal breast cancerPast medical historyHomozygous pathogenic variantCancer predisposition syndromeWhole-exome sequencingMolecular genetic testingCardiovascular eventsCarotid dissectionVascular eventsCardiovascular manifestationsCase reportMedical historyRecent diagnosisBreast cancerEarly diagnosis
2022
Single-level posterior lumbar fusions in patients with Ehlers Danlos Syndrome not found to be associated with increased postoperative adverse events or five-year reoperations
Gouzoulis MJ, Kammien AJ, Zhu JR, Gillinov SM, Moore HG, Grauer JN. Single-level posterior lumbar fusions in patients with Ehlers Danlos Syndrome not found to be associated with increased postoperative adverse events or five-year reoperations. North American Spine Society Journal (NASSJ) 2022, 11: 100136. PMID: 35783003, PMCID: PMC9241136, DOI: 10.1016/j.xnsj.2022.100136.Peer-Reviewed Original ResearchSingle-level posterior lumbar fusionPosterior lumbar fusionEhlers-Danlos syndromeMinor adverse eventsElixhauser Comorbidity IndexAdverse eventsEDS patientsAdult patientsLumbar fusionDanlos syndromeKaplan-Meier survival curvesRare connective tissue disorderPostoperative adverse eventsRate of reoperationRisk of complicationsNon-ED patientsLog-rank testConnective tissue disordersMultivariate logistical regressionSignificant differencesChi-square testPLF casesComorbidity indexReoperation rateRetrospective studyGastrointestinal vascular malformations and neoplasms: arterial, venous, arteriovenous, and capillary
Al‐Bawardy B, Proctor D. Gastrointestinal vascular malformations and neoplasms: arterial, venous, arteriovenous, and capillary. 2022, 2293-2314. DOI: 10.1002/9781119600206.ch113.Peer-Reviewed Original ResearchDieulafoy's lesionGastrointestinal bleedingVascular ectasiaGastric antral vascular ectasiaVascular Ehlers-Danlos syndromeGastrointestinal vascular ectasiaGastrointestinal vascular malformationsSevere gastrointestinal bleedingUpper gastrointestinal bleedingAntral vascular ectasiaEhlers-Danlos syndromeHereditary hemorrhagic telangiectasiaPrerenal azotemiaWatermelon stomachHemodynamic compromiseEndoscopic treatmentMucosal vesselsVascular malformationsCavernous hemangiomaDistal colonLesser curvatureHemorrhagic telangiectasiaGastrointestinal tractLarge seriesPseudoxanthoma elasticum
2021
Patients With Ehlers-Danlos Syndromes Experience Higher Rates of Prosthetic Dislocation After Total Hip Arthroplasty and Worse Implant Survival at 5 Years
Moore HG, Burroughs PJ, Rubin LE, Frumberg DB, Sculco PK, Grauer JN. Patients With Ehlers-Danlos Syndromes Experience Higher Rates of Prosthetic Dislocation After Total Hip Arthroplasty and Worse Implant Survival at 5 Years. Journal Of The American Academy Of Orthopaedic Surgeons 2021, 30: 177-183. PMID: 34967762, DOI: 10.5435/jaaos-d-21-00347.Peer-Reviewed Original ResearchConceptsEhlers-Danlos syndromeTotal hip arthroplastyImplant survivalHip arthroplastyAdverse eventsDiagnosis of EDSGenetic connective tissue disorderNinety-day incidenceWorse implant survivalHigh rateDay of surgeryLong-term outcomesLog-rank testMultivariate logistic regressionConnective tissue disordersMultiple organ systemsConnective tissue laxityPerioperative dislocationPeriprosthetic dislocationPostoperative complicationsPostoperative periodProsthetic dislocationHospital readmissionControl subjectsAdministrative databases
2011
Loeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings
Kalra VB, Gilbert JW, Malhotra A. Loeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings. Pediatric Radiology 2011, 41: 1495-1504. PMID: 21785848, DOI: 10.1007/s00247-011-2195-z.Peer-Reviewed Original ResearchConceptsLoeys-Dietz syndromeAutosomal dominant connective tissue disorderProphylactic surgical interventionShort-interval followFollow-up imagingConnective tissue disordersEhlers-Danlos syndromeCardiovascular complicationsAggressive courseArterial dissectionRadiological manifestationsImaging findingsSurgical interventionVascular subtypeTissue disordersEarly diagnosisSimilar disordersSkeletal abnormalitiesComplicationsDisordersCraniofacial malformationsSyndromeImagingMorbidityAneurysms
1995
Perforation of the colon in an adolescent girl
KINNANE J, PRIEBE C, CATY M, KUPPERMANN N. Perforation of the colon in an adolescent girl. Pediatric Emergency Care 1995, 11: 230-232. PMID: 8532569, DOI: 10.1097/00006565-199508000-00010.Peer-Reviewed Original ResearchConceptsEhlers-Danlos syndromeMedical historyUnusual operative findingsAcute abdominal painTime of presentationSigmoid colon perforationAbdominal painBowel perforationOperative findingsAbdominal catastropheColon perforationClinical manifestationsPhysical examinationFamily historyRadiographic studiesVascular aneurysmsAdolescent girlsPerforationSyndromeDiagnosisGirlsComplicationsPainPatientsAneurysms
1992
Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen.
Smith L, Wertelecki W, Milstone L, Petty E, Seashore M, Braverman I, Jenkins T, Byers P. Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen. American Journal Of Human Genetics 1992, 51: 235-44. PMID: 1642226, PMCID: PMC1682688.Peer-Reviewed Original ResearchConceptsAmino-terminal propeptideFragile skinType IConnective tissue disordersEhlers-Danlos syndromeLax jointsType VIIAffected animalsSkinChildrenCultured fibroblastsNormal cellsEhlers-Danlos syndrome type VIIPro alphaDisordersPropeptideAlphaDermatosparaxisProteolytic processingSepsisN-proteinaseCellsSyndromeCollagen fibrils
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