, 2019 High-quality research leads to high-quality midwifery practice. Dr Sally Pezaro outlines how you can get involved in producing the evidence that makes a real difference to ...
Pezaro, Sally
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Skin malformations in a neonatal foal tested homozygous positive for Warmblood Fragile Foal Syndrome [PDF]
, 2015 BACKGROUND: Skin malformations that resembled manifestations of Ehlers-Danlos-Syndrome were described in a variety of domestic animals during the last century as cutis hyperelastica, hyperelastosis cutis, dermatosparaxis, dermal/collagen dysplasia ...
Bleul, Ulrich +4 more
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When flexibility is not necessarily a virtue: a review of hypermobility syndromes and chronic or recurrent musculoskeletal pain in children [PDF]
, 2015 Chronic or recurrent musculoskeletal pain is a common complaint in children. Among the most common causes for this problem are different conditions associated with hypermobility.
Cattalini, Marco +2 more
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Spontaneous Coronary Artery Dissection as Presenting Feature of Vascular Ehlers-Danlos Syndrome
Cardiogenetics, 2021 A spontaneous coronary artery dissection as the sole presenting feature of vascular Ehlers-Danlos syndrome is an uncommon finding. We present a 33-year-old woman with sudden onset chest pain caused by a spontaneous coronary artery dissection.
J. Bos +5 more
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Hypermobile Ehlers-Danlos Syndrome during Pregnancy, Birth and Beyond: A Review of Midwifery Care Considerations [PDF]
, 2018 The Ehlers-Danlos Syndromes (EDS) are an underdiagnosed group of conditions with implications and risks associated with childbearing. Those with EDS suggest that healthcare professionals have a lack of awareness in this area, and consequently describe ...
Pearce, Gemma +2 more
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Clinical and genetic aspects in the Ehlers Danlos syndrome [PDF]
Romanian Journal of Pediatrics, 2020 Introduction. Ehlers Danlos syndrome is a group of hereditary diseases of the connective tissue with a combined prevalence of 1 in 5,000 cases which have in common articular hyperlaxity and skin abnormalities.
Elena Silvia Shelby +4 more
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The novel missense mutation Met48Lys in FKBP22 changes its structure and functions. [PDF]
, 2020 Mutations in the FKBP14 gene encoding FKBP22 (FK506 Binding Protein 22 kDa) cause kyphoscoliotic Ehlers-Danlos Syndrome (kEDS). The first clinical report showed that a lack of FKBP22 protein due to mutations causing nonsense-mediated decay of the mRNA ...
Bächinger, Hans Peter +7 more
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RareThe National Ehlers-Danlos Syndromes (EDS) service is a highly specialised NHS commissioned service for diagnosing and supporting people with a rare, monogenic type of EDS.
Juliette M. Harris +6 more
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SÃndroma de Ehlers-Danlos â Uma causa rara de pneumotórax espontâneo
Revista Portuguesa de Pneumologia, 2006 Resumo: A sÃndroma de Ehlers-Danlos (cutis hyperelastica), constitui uma patologia do tecido conjuntivo caracterizada por alterações da pele, ligamentos e órgãos internos.Apresenta transmissão hereditária, em geral autossómica dominante.
Carlos Lopes +6 more
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Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes [PDF]
, 2016 To investigate the involvement of small nerve fibers in Ehlers-Danlos syndrome (EDS). Patients diagnosed with EDS underwent clinical, neurophysiologic, and skin biopsy assessment. We recorded sensory symptoms and signs and evaluated presence and severity
Bella, Eleonora Dalla +9 more
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