This report describes the anesthetic management of a patient with Ehlers-Danlos syndrome type IV. This is one of the rare genetic disorder which can present both in emergency and as a scheduled surgical case.
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The Financial Impact of Ehlers-Danlos Syndromes on Patients in the United States in 2022.
Mayo Clin Proc Innov Qual Outcomes
February 2025
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN.
Objective: To determine the financial impact of Ehlers-Danlos syndromes (EDS) on patients in the United States by examining the medical expenses incurred by patients.
Patients And Methods: We used a convenience sample approach and disseminated a self-reported survey questionnaire to individuals with EDS via patient advocacy organizations and support groups across the country, social media, and health professionals from April 1, 2023, to December 31, 2023. The survey focused on the out-of-pocket medical expenses incurred by patients.
Quality of life in people with syndromic heritable thoracic aortic disease and their relatives: a qualitative interview based study.
Orphanet J Rare Dis
January 2025
Department of Social Work, Child Welfare and Social Policy, Faculty of Social Science, Oslo Metropolitan University, Oslo, Norway.
Introduction: The purpose of this study was to investigate perceptions and opinions on what constitutes determinants for quality of life (QoL) in individuals with syndromic Heritable Aortic Disease (sHTAD), utilizing a qualitative study approach. Further to discuss clinical implications and direction for research.
Method: A qualitative focus group interview study was conducted of 47 adults (Marfan syndrome (MFS) = 14, Loeys-Dietz syndrome (LDS) = 11, vascular Ehlers Danlos syndrome (EDS) = 11, relatives = 11).
[Visceral perforations in a child with Ehlers-Danlos syndrome type IV].
Orv Hetil
January 2025
1 Semmelweis Egyetem, Általános Orvostudományi Kar, Gyermekgyógyászati Klinika Budapest, Bókay J. u. 53., 1083 Magyarország.
Increased Risk of Patellofemoral Instability Events and Surgical Management in Patients With Joint Hypermobility Syndromes: A Matched Cohort Analysis.
Arthrosc Sports Med Rehabil
December 2024
Warren Alpert Medical School of Brown University, Providence, Rhode Island, U.S.A.
Purpose: To compare the odds of patellofemoral instability events requiring subsequent surgery and revision surgical intervention in patients with joint hypermobility syndromes (JHS) to that of a matched cohort.
Methods: This is a retrospective cohort study using the PearlDiver Mariner Database. Records were queried between 2010 and 2021 with a diagnosis of JHS, including Ehlers-Danlos syndrome (EDS) and Marfan syndrome.
Integrative Multi-Omics Approach in Vascular Ehlers-Danlos Syndrome: Further Insights into the Disease Mechanisms by Proteomic Analysis of Patient Dermal Fibroblasts.
Biomedicines
November 2024
Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.
: Dominant mutations in are known to cause vascular Ehlers-Danlos syndrome (vEDS) by impairing extracellular matrix (ECM) homeostasis. This disruption leads to the fragility of soft connective tissues and a significantly increased risk of life-threatening arterial and organ ruptures. Currently, treatments for vEDS are primarily symptomatic, largely due to a limited understanding of its underlying pathobiology and molecular mechanisms.
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