Increased augmentation index in patients with Ehlers-Danlos syndrome

Ehlers-Danlos Syndrome (EDS) comprises a heterogeneous group of diseases characterized by joint hypermobility, connective tissue friability, and vascular fragility. Reliable prognostic factors predicting vascu...
Source: BMC Cardiovascular Disorders - Category: Cardiology Authors: Tags: Research article Source Type: research

Related Links:

We present a cohort of six patients with molecularly confirmed vEDS and one patient with a severe form of OI, who each had expanded (or dilated), protein-filled, rough endoplasmic reticulum identified on transmission electron microscopy. The patients were identified through retrospective screening of medical records, and biopsies were taken between 1999-2016. We discuss the potential role for assessing rough endoplasmic reticulum expansion as a useful tool to allow further phenotyping of these individuals.PMID:34538206 | DOI:10.1080/01913123.2021.1979703
Source: Ultrastructural Pathology - Category: Pathology Authors: Source Type: research
CONCLUSIONS: The choice of the best surgical technique is dependent on the type of disease (MFS or other connective tissue diseases) as well as the accompanying aortic and cardiovascular damage, since these key factors are heterogeneous. Although the results of this meta-analysis tend to show some advantages for one type of surgical intervention over the other and viceversa, the surgeon can only make the best decision during the surgical act.PMID:34527322 | PMC:PMC8411183 | DOI:10.21037/jtd-21-789
Source: Journal of Thoracic Disease - Category: Respiratory Medicine Authors: Source Type: research
AbstractDiagnosing hypermobile Ehlers –Danlos syndrome (hEDS) remains challenging, despite new 2017 criteria. Patients not fulfilling these criteria are considered to have hypermobile spectrum disorder (HSD). Our first aim was to evaluate whether patients hEDS were more severely affected and had higher prevalence of extra-articular ma nifestations than HSD. Second aim was to compare their outcome after coordinated physical therapy. Patients fulfilling hEDS/HSD criteria were included in this real-life prospective cohort (November 2017/April 2019). They completed a 16-item Clinical Severity Score (CSS-16). We recorded ...
Source: Rheumatology International - Category: Rheumatology Source Type: research
Chest. 2021 Sep;160(3):e269-e272. doi: 10.1016/j.chest.2021.04.017.ABSTRACTA 60-year-old man with a history of COPD, uncontrolled diabetes (hemoglobin A1c, 10.6%), obesity (BMI, 33.4), and a family history of Ehlers-Danlos syndrome came to the ED with several hours of acute-onset severe left mid-axillary pleuritic chest pain without alleviating factors. The pain had no specific triggers, including activities or heavy meals. It was associated with nausea, chills, and diaphoresis; also, it was preceded by a few weeks of subacute flulike symptoms for which he did not seek medical attention. He denied previous similar symptoms...
Source: Chest - Category: Respiratory Medicine Authors: Source Type: research
Glycosaminoglycans (GAGs) including chondroitin sulfate, dermatan sulfate, and heparan sulfate are covalently attached to specific core proteins to form proteoglycans, which are distributed at the cell surface as well as in the extracellular matrix. Proteoglycans and GAGs have been demonstrated to exhibit a variety of physiological functions such as construction of the extracellular matrix, tissue development, and cell signaling through interactions with extracellular matrix components, morphogens, cytokines, and growth factors. Not only connective tissue disorders including skeletal dysplasia, chondrodysplasia, multiple e...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
We present a case of lung herniation that was multifactorial in nature and was identified at a head and neck clinic. The female patient presented with a voluntarily expandable anterior neck mass on Valsalva manoeuvre. Computed tomography imaging with and without Valsalva manoeuvre demonstrated bilateral anterior lung herniation and findings of spinal spondylosis.PMID:34464574 | DOI:10.1308/rcsann.2020.7106
Source: Annals of the Royal College of Surgeons of England - Category: Surgery Authors: Source Type: research
AbstractDiagnosing hypermobile Ehlers –Danlos syndrome (hEDS) remains challenging, despite new 2017 criteria. Patients not fulfilling these criteria are considered to have hypermobile spectrum disorder (HSD). Our first aim was to evaluate whether patients hEDS were more severely affected and had higher prevalence of extra-articular ma nifestations than HSD. Second aim was to compare their outcome after coordinated physical therapy. Patients fulfilling hEDS/HSD criteria were included in this real-life prospective cohort (November 2017/April 2019). They completed a 16-item Clinical Severity Score (CSS-16). We recorded ...
Source: Rheumatology International - Category: Rheumatology Source Type: research
Spindle cell lipoma (SCL) is a rare variant of lipomas, which predominantly occurs in the regions of shoulder and posterior neck but rarely on the toes. Epidemiological studies have demonstrated increased incidence of cancers in patients with scleroderma.
Source: Journal of Foot and Ankle Surgery - Category: Orthopaedics Authors: Tags: Case Reports and Series Source Type: research
By MARTIN A. SAMUELS A 35 year old woman complains of weakness of the right side of her face and pain behind the right ear.  She lives in an urban environment and denies any recent illnesses.  She is not vaccinated against COVID-19 but is COVID negative.  What do you think, I was asked at our Morning Report?  Well, I said, it sounds like a straightforward Bell palsy.  The pain around the ear suggests swelling of the VIIth cranial nerve in the facial canal and the stylomastoid foramen, a very common historical point, I opined; so much so that its absence would make me doubt the diagnosis and m...
Source: The Health Care Blog - Category: Consumer Health News Authors: Tags: Medical Practice Physicians Martin A. Samuels morning report neurology Source Type: blogs
Condition:   Hypermobile Ehlers-Danlos Syndrome Intervention:   Sponsor:   Hakimi Adrien Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
More News: Cardiology | Cardiovascular | Ehlers-Danlos Syndrome | Heart