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Ehlers-Danlos Syndrome

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2. Ehlers-Danlos syndrome

Ehlers-Danlos syndrome Ehlers-Danlos syndrome - Symptoms, diagnosis and treatment | BMJ Best Practice You'll need a subscription to access all of BMJ Best Practice Search  Ehlers-Danlos syndrome Last reviewed: February 2019 Last updated: April 2018 Summary The most common group of disorders in the family of genetically determined heritable disorders of connective tissues, characterised by joint hypermobility, skin hyperextensibility, and tissue fragility. Hypermobile Ehlers-Danlos syndrome (...) . Multidisciplinary input may be necessary. Many patients live healthy, unaffected lives and may never come to clinical attention, particularly those with hypermobile EDS. Vascular EDS is associated with a shortened lifespan due to susceptibility to arterial or visceral rupture. Definition Ehlers-Danlos syndrome (EDS) is the most common group of disorders in the family of genetically determined heritable disorders of connective tissues. Caused by pathogenic variants affecting genes encoding for or modifying

2018 BMJ Best Practice

3. The Relationship Between Hypermobile Ehlers-Danlos Syndrome (hEDS), Postural Orthostatic Tachycardia Syndrome (POTS), and Mast Cell Activation Syndrome (MCAS). (PubMed)

The Relationship Between Hypermobile Ehlers-Danlos Syndrome (hEDS), Postural Orthostatic Tachycardia Syndrome (POTS), and Mast Cell Activation Syndrome (MCAS). In recent years, an association between hypermobile Ehlers-Danlos syndrome (hEDS), mast cell activation syndrome (MCAS), and postural orthostatic tachycardia syndrome (POTS) has garnered attention and patients are increasingly presenting with this triad. However, a real relationship between these entities is unclear due to a lack

2019 Clinical Reviews in Allergy & Immunology

4. Positional Magnetic Resonance Imaging for People with Ehlers-Danlos Syndrome or Suspected Craniovertebral or Cervical Spine Abnormalities

Positional Magnetic Resonance Imaging for People with Ehlers-Danlos Syndrome or Suspected Craniovertebral or Cervical Spine Abnormalities Positional Magnetic Resonance Imaging for People With Ehlers-Danlos Syndrome or Suspected Craniovertebral or Cervical Spine Abnormalities: OHTAC Recommendation. July 2015; pp. 1–4 Positional Magnetic Resonance Imaging for People With Ehlers-Danlos Syndrome or Suspected Craniovertebral or Cervical Spine Abnormalities: OHTAC Recommendation HEALTH QUALITY (...) ONTARIO ONTARIO HEALTH TECHNOLOGY ADVISORY COMMITTEE RECOMMENDATIONS Given the current absence of evidence for the utility of positional magnetic resonance imaging (pMRI), OHTAC recommends that pMRI not be funded or considered generally accepted practice for the diagnosis or management of (a) spinal or craniovertebral abnormalities among individuals with Ehlers-Danlos Syndrome, or (b) major craniovertebral or cervical spine abnormalities among symptomatic individuals. BACKGROUND Ehlers-Danlos syndrome

2015 Health Quality Ontario

5. Dental manifestations of Ehlers Danlos syndromes

Dental manifestations of Ehlers Danlos syndromes Print | PDF PROSPERO This information has been provided by the named contact for this review. CRD has accepted this information in good faith and registered the review in PROSPERO. The registrant confirms that the information supplied for this submission is accurate and complete. CRD bears no responsibility or liability for the content of this registration record, any associated files or external websites. Email salutation (e.g. "Dr Smith

2019 PROSPERO

6. Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome. (PubMed)

Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome. Vascular Ehlers-Danlos syndrome (vEDS) is a dominantly inherited connective tissue disorder caused by mutations in the COL3A1 gene that encodes type III collagen (COLLIII), which is the major expressed collagen in blood vessels and hollow organs. The majority of disease-causing variants in COL3A1 are glycine substitutions

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2018 PLoS ONE

7. The natural history of children with joint hypermobility syndrome and Ehlers-Danlos hypermobility type: a longitudinal cohort study

The natural history of children with joint hypermobility syndrome and Ehlers-Danlos hypermobility type: a longitudinal cohort study The objective of the manuscript was to describe the natural history of complaints and disability in children diagnosed with joint hypermobility syndrome (JHS)/Ehlers-Danlos-hypermobility type (EDS-HT) and to identify the constructs that underlie functional decline.One hundred and one JHS/EDS-HT children were observed over 3 years and assessed at three time points

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2017 EvidenceUpdates

8. Inspiratory muscle strength training improves lung function in patients with the hypermobile Ehlers-Danlos syndrome: A randomized controlled trial. (PubMed)

Inspiratory muscle strength training improves lung function in patients with the hypermobile Ehlers-Danlos syndrome: A randomized controlled trial. As exertional inspiratory dyspnea is a common disabling complaint in hypermobile Ehlers-Danlos syndrome (hEDS) often also known as joint hypermobility syndrome (JHS), we investigated inspiratory muscle (IM) strength in patients with hEDS, and we assessed the effects of IM training (IMT) on IM strength, lung function, and exercise capacity

2019 American journal of medical genetics. Part A

9. Celiprolol but not losartan improves the biomechanical integrity of the aorta in a mouse model of vascular Ehlers-Danlos syndrome. (PubMed)

Celiprolol but not losartan improves the biomechanical integrity of the aorta in a mouse model of vascular Ehlers-Danlos syndrome. Antihypertensive drugs are included in the medical therapy of vascular Ehlers-Danlos syndrome (vEDS). The β-blocker celiprolol has been suggested to prevent arterial damage in vEDS, but the underlying mechanism remains unclear. It is also unknown whether the widely used angiotensin II receptor type 1 antagonist losartan has a therapeutic effect in vEDS. Here, we

2019 Cardiovascular Research

10. Vascular Ehlers-Danlos Syndrome: Long-Term Observational Study. (PubMed)

Vascular Ehlers-Danlos Syndrome: Long-Term Observational Study. Vascular Ehlers-Danlos syndrome (vEDS) is a rare genetic connective tissue disorder secondary to pathogenic variants within the COL3A1 gene, resulting in exceptional arterial and organ fragility and premature death. The only published clinical trial to date demonstrated the benefit of celiprolol on arterial morbimortality.The authors herein describe the outcomes of a large cohort of vEDS patients followed ≤17 years in a single

2019 Journal of the American College of Cardiology

11. Natural History and Surgical Management of Colonic Perforations in Vascular Ehlers-Danlos Syndrome: a Retrospective Review. (PubMed)

Natural History and Surgical Management of Colonic Perforations in Vascular Ehlers-Danlos Syndrome: a Retrospective Review. Vascular Ehlers-Danlos syndrome is a rare and severe genetic condition leading to spontaneous, potentially life-threatening arterial and digestive complications. Colonic ruptures are a common feature of the disease, but clear recommendations on their management are lacking.This study aimed to identify surgery-related morbidity and 30-day postoperative mortality after (...) colonic perforation.This was a retrospective review.A large cohort of patients with vascular Ehlers-Danlos syndrome was followed in a tertiary referral center.Between 2000 and 2016, the French National Reference Centre for Rare Vascular Diseases (HEGP, AP-HP, Paris, France) followed 148 patients with molecularly proven vascular Ehlers-Danlos syndrome.The primary outcomes measured were surgery-related morbidity and 30-day postoperative mortality.Of 133 patients with molecularly proven vascular Ehlers

2019 Diseases of the Colon & Rectum

12. Natural History and Surgical Management of Colonic Perforations in Vascular Ehlers-Danlos Syndrome: A Retrospective Review. (PubMed)

Natural History and Surgical Management of Colonic Perforations in Vascular Ehlers-Danlos Syndrome: A Retrospective Review. Vascular Ehlers-Danlos syndrome is a rare and severe genetic condition leading to spontaneous, potentially life-threatening arterial and digestive complications. Colonic ruptures are a common feature of the disease, but clear recommendations on their management are lacking.This study aimed to identify surgery-related morbidity and 30-day postoperative mortality after (...) colonic perforation.This was a retrospective review.A large cohort of patients with vascular Ehlers-Danlos syndrome was followed in a tertiary referral center.Between 2000 and 2016, the French National Reference Centre for Rare Vascular Diseases (HEGP, AP-HP, Paris, France) followed 148 patients with molecularly proven vascular Ehlers-Danlos syndrome.The primary outcomes measured were surgery-related morbidity and 30-day postoperative mortality.Of 133 patients with molecularly proven vascular Ehlers

2019 Diseases of the Colon & Rectum

13. A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome. (PubMed)

A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome. Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder owing to pathogenic variants in COL3A1 that lead to impaired type III collagen production. We aim to describe the contemporary multi-institutional experience of aortic and arterial pathology in individuals with vEDS, to evaluate disease patterns and refine management

2019 Journal of Vascular Surgery

14. Use of Cluster Analysis to Delineate Symptom Profiles in Ehlers-Danlos Syndrome Patient Population. (PubMed)

Use of Cluster Analysis to Delineate Symptom Profiles in Ehlers-Danlos Syndrome Patient Population. The Ehlers-Danlos Syndromes (EDSs) are a set of rare heritable disorders of connective tissue, characterized by defects in the structure and synthesis of extracellular matrix elements that lead to a myriad of problems including joint hypermobility and skin abnormalities. Because EDS affects multiple organ systems, defining clear boundaries and recognizing overlapping clinical features shared

2019 Journal of pain and symptom management

15. Electron Microscopy in the diagnosis of Ehlers-Danlos Syndromes; correlation with clinical and genetic investigations. (PubMed)

Electron Microscopy in the diagnosis of Ehlers-Danlos Syndromes; correlation with clinical and genetic investigations. The Ehlers-Danlos Syndromes (EDS) consist of 13 subtypes with overlapping features including joint hypermobility, skin and vascular fragility and generalised connective tissue friability. Since DNA analysis has become the gold standard for investigation of EDS, TEM (Transmission Electron Microscopy) in clinical practice is decreasing. However, due to next-generation sequencing

2019 British Journal of Dermatology

16. Underlying Ehlers-Danlos syndrome discovered during neuro-ophthalmic evaluation of concussion patients: a case series. (PubMed)

Underlying Ehlers-Danlos syndrome discovered during neuro-ophthalmic evaluation of concussion patients: a case series. The Ehlers-Danlos syndromes are a heterogenous group of diseases that cause connective tissue defects. At present, there are no published reports focusing upon the neuro-ophthalmic symptoms that might occur in EDS patients after mild traumatic brain injury. The demographics and clinical course of seven patients with subclinical EDS and mild traumatic brain injury (...) are presented.This series describes patients with Ehlers Danlos Syndrome whose diagnosis was discovered in a neuro-ophthalmic clinic for brain injury. Patient demographics and neuro-ophthalmological symptoms are presented.Patients with subclinical EDS and brain injury may experience a slower, less complete recovery course. Heightened awareness of undiagnosed or underlying Ehlers Danlos Syndrome is important for patients and providers.

2019 BMC Ophthalmology

17. A case of Ehlers-Danlos syndrome presenting with widened atrophic scars of forehead, elbow, knee, and pretibial area: A case report. (PubMed)

A case of Ehlers-Danlos syndrome presenting with widened atrophic scars of forehead, elbow, knee, and pretibial area: A case report. Ehlers-Danlos syndrome (EDS) is a heritable connective tissue disorder. Currently, the genotype-phenotype correlations of classical EDS (cEDS) are still controversial. Hence, this study reported a case of cEDS with both clinical manifestations and COL5A2 gene mutation.A 30-year-old female presented to the plastic-surgery clinic with widen atrophic scars (...) on forehead, elbows, knees and pretibial area that had developed since childhood.With the skin hyperextensibility, joint hypermobility, papyraceous scar revealed by physical examination, and the heterozygous pathogenic variant c1997G > A (p.P659P) in COL5A2 gene revealed by whole exome sequencing, the diagnosis of the classical Ehlers-Danlos syndrome was made.The patient underwent facial scar resection and sutured in minimizing tension and perfect apposition to avoid the post-surgery scar formation.Follow

2019 Medicine

18. A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis. (PubMed)

A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis. Vascular Ehlers-Danlos syndrome (vEDS) is a rare disorder and 1 of 13 types of EDS. The syndrome results in aortic and arterial aneurysms and dissections at a young age. Diagnosis is confirmed with molecular testing via skin biopsy or genetic testing for COL3A1 pathogenic variants. We describe a multi-institutional experience in the diagnosis of vEDS from 2000 to 2015.This is a multi-institutional cross-sectional

2019 Journal of Vascular Surgery

19. Ehlers-Danlos syndrome-related genes and serum strontium, zinc, and lithium levels in generalized joint hypermobility: A case-control study. (PubMed)

Ehlers-Danlos syndrome-related genes and serum strontium, zinc, and lithium levels in generalized joint hypermobility: A case-control study. Aim: Generalized joint hypermobility (GJH) is a common feature of almost all Ehlers-Danlos syndrome (EDS) types; however, its genetic basis remains unclear. Therefore, it is crucial to distinguish the genetic basis of GJH from other connective tissue disorders, including the different subtypes of EDS. The aim of this study was to determine the blood EDS

2019 Connective Tissue Research

20. Positional Magnetic Resonance Imaging for people with Ehlers-Danlos Syndrome or suspected craniovertebral or cervical spine abnormalities: an evidence-based analysis

Positional Magnetic Resonance Imaging for people with Ehlers-Danlos Syndrome or suspected craniovertebral or cervical spine abnormalities: an evidence-based analysis Positional Magnetic Resonance Imaging for people with Ehlers-Danlos Syndrome or suspected craniovertebral or cervical spine abnormalities: an evidence-based analysis Positional Magnetic Resonance Imaging for people with Ehlers-Danlos Syndrome or suspected craniovertebral or cervical spine abnormalities: an evidence-based analysis (...) Health Quality Ontario Record Status This is a bibliographic record of a published health technology assessment from a member of INAHTA. No evaluation of the quality of this assessment has been made for the HTA database. Citation Health Quality Ontario. Positional Magnetic Resonance Imaging for people with Ehlers-Danlos Syndrome or suspected craniovertebral or cervical spine abnormalities: an evidence-based analysis. Toronto: Health Quality Ontario (HQO). Ontario Health Technology Assessment Series

2015 Health Technology Assessment (HTA) Database.

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