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Ehlers-Danlos Syndrome

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

, positional magnetic resonance imaging. a Anticipated or assumed common ethical and societal values held in regard to the target condition, target population, and/or treatment options. Unless there is evidence from scientific sources to corroborate the true nature of the ethical and societal values, the expected values are considered. Positional Magnetic Resonance Imaging for People With Ehlers-Danlos Syndrome or Suspected Craniovertebral or Cervical Spine Abnormalities: OHTAC Recommendation. July 2015 (...) 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

2015 Health Quality Ontario

4. Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts. Full Text available with Trip Pro

Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts. Classical Ehlers-Danlos syndrome (cEDS) is a dominant inherited connective tissue disorder mainly caused by mutations in the COL5A1 and COL5A2 genes encoding type V collagen (COLLV), which is a fibrillar COLL widely distributed in a variety of connective tissues. cEDS patients suffer from skin hyperextensibility, abnormal wound healing/atrophic (...) scars, and joint hypermobility. Most of the causative variants result in a non-functional COL5A1 allele and COLLV haploinsufficiency, whilst COL5A2 mutations affect its structural integrity. To shed light into disease mechanisms involved in cEDS, we performed gene expression profiling in skin fibroblasts from four patients harboring haploinsufficient and structural mutations in both disease genes. Transcriptome profiling revealed significant changes in the expression levels of different

2019 PLoS ONE

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

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 (...) of these papers resulted from a combination of the search terms for the three conditions. All three clinical entities are controversial in either existence or pathogenesis. MCAS is a poorly defined clinical entity, and many studies do not adhere to the proposed criteria when establishing the diagnosis. Patients previously diagnosed with EDS hypermobility type may not meet the new, stricter criteria for hEDS but may for a less severe hypermobility spectrum disorder (HSD). The pathophysiology of POTS is still

2019 Clinical Reviews in Allergy & Immunology

6. 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.

7. 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 Positional magnetic resonance imaging for people with Ehlers-Danlos syndrome or suspected craniovertebral or cervical spine abnormalities: OHTAC recommendation 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: OHTAC recommendation. Toronto: Health Quality Ontario (HQO). OHTAC Recommendation. 2015 Authors' conclusions We did not identify any evidence that assessed

2015 Health Technology Assessment (HTA) Database.

8. Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome. Full Text available with Trip Pro

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 (...) an important role in the vascular system. Furthermore, the altered distribution of the ER marker protein disulfide isomerase PDI and the strong reduction of the COLLs-modifying enzyme FKBP22 are consistent with the disturbance of ER-related homeostasis and COLLs biosynthesis and post-translational modifications, indicated by microarray analysis. Our findings add new insights into the pathophysiology of this severe vascular disorder, since they provide a picture of the gene expression changes in vEDS skin

2018 PLoS ONE

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

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 (...) by disease phenotypes is challenging.The objective of this study was to seek evidence of phenotypic subgroups of patients with distinctive symptom profiles and describe these resulting subgroups.Data were extracted from a repository assembled 2001-2013 by the National Institute on Aging Intramural Research Program. Agglomerative hierarchical clustering was used to form distinct subgroups of patients with respect to the domains of pain, physical and mental fatigue, daytime sleepiness, and nighttime sleep

2019 Journal of pain and symptom management

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

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

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

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

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 (...) recommendations.This cross-sectional, retrospective study of individuals with genetically confirmed vEDS was conducted between 2000 and 2015 at multiple institutions participating in the Vascular Low Frequency Disease Consortium. Aortic and arterial events including aneurysms, pseudoaneurysms, dissections, fistulae, or ruptures were studied. Demographics, COL3A1 variants, management, and outcomes data were collected and analyzed. Individuals with and without arterial events were compared.Eleven institutions

2019 Journal of Vascular Surgery

13. Underlying Ehlers-Danlos syndrome discovered during neuro-ophthalmic evaluation of concussion patients: a case series. Full Text available with Trip Pro

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

14. A case of Ehlers-Danlos syndrome presenting with widened atrophic scars of forehead, elbow, knee, and pretibial area: A case report. Full Text available with Trip Pro

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

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

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 (...) between the Beighton score and SLC39A13, TNXB, Zn, Sr, and B3GALT6. Conclusion: Our findings provide valuable basal levels for conducting gene function analysis of joint hypermobility-related connective tissue disorders.

2019 Connective Tissue Research

16. A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis. Full Text available with Trip Pro

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 (...) retrospective study of individuals with vEDS. The institutions were recruited through the Vascular Low Frequency Disease Consortium. Individuals were identified using the International Classification of Diseases-9 and 10-CM codes for EDS (756.83 and Q79.6). A review of records was then performed to select individuals with vEDS. Data abstraction included demographics, family history, clinical features, major and minor diagnostic criteria, and molecular testing results. Individuals were classified into two

2019 Journal of Vascular Surgery

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

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 Controlled trial quality: uncertain

18. Celiprolol but not losartan improves the biomechanical integrity of the aorta in a mouse model of vascular Ehlers-Danlos syndrome. Full Text available with Trip Pro

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

19. Vascular Ehlers-Danlos Syndrome: Long-Term Observational Study. (Abstract)

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

20. The natural history of children with joint hypermobility syndrome and Ehlers-Danlos hypermobility type: a longitudinal cohort study Full Text available with Trip Pro

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

2017 EvidenceUpdates

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