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Ehlers-Danlos, Hypermobility Type

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https://www.readbyqxmd.com/read/29709596/vascular-aspects-of-the-ehlers-danlos-syndromes
#1
REVIEW
Fransiska Malfait
The Ehlers-Danlos Syndromes comprise a heterogeneous group of rare monogenic conditions that are characterized by joint hypermobility, skin and vascular fragility and generalized connective tissue friability. The latest classification recognizes 13 clinical subtypes, with mutations identified in 19 different genes. Besides defects in fibrillar collagens (collagen types I, III and V), their modifying enzymes (ADAMTS-2, lysylhydroxylase 1 (LH1)), and molecules involved in collagen folding (FKBP22), defects have recently been identified in other constituents of the extracellular matrix (e...
April 27, 2018: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29703000/rheumatological-presentation-of-bartonella-koehlerae-and-bartonella-henselae-bacteremias-a-case-report
#2
Bobak Robert Mozayeni, Ricardo Guillermo Maggi, Julie Meredith Bradley, Edward Bealmear Breitschwerdt
INTRODUCTION: Systemic Bartonella spp. infections are being increasingly reported in association with complex medical presentations. Individuals with frequent arthropod exposures or animal contact appear to be at risk for acquiring long standing infections with Bartonella spp. CASE REPORT: This case report describes infections with Bartonella koehlerae and Bartonella henselae in a female veterinarian whose symptoms were predominantly rheumatologic in nature. Infection was confirmed by serology, polymerase chain reaction (PCR), enrichment blood culture, and DNA sequencing of amplified B koehlerae and B henselae DNA...
April 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29609717/sleep-disorders-and-their-management-in-children-with-ehlers-danlos-syndrome-referred-to-sleep-clinics
#3
Keren Armoni Domany, Sumalee Hantragool, David F Smith, Yuanfang Xu, Monir Hossain, Narong Simakajornboon
STUDY OBJECTIVES: The nature of sleep disorders in children with Ehlers-Danlos syndrome (EDS) is unknown. We aimed to describe the type, the management, and the short-term outcome of sleep disorders in children with EDS referred to sleep clinics. METHODS: This is a retrospective review of medical records and polysomnography tests of children with EDS younger than 18 years who were referred to the sleep clinic. Demographic information and medical history were collected, and polysomnography tests were reviewed...
March 30, 2018: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/29587413/multifaced-roles-of-the-%C3%AE-v%C3%AE-3-integrin-in-ehlers-danlos-and-arterial-tortuosity-syndromes-dermal-fibroblasts
#4
REVIEW
Nicoletta Zoppi, Nicola Chiarelli, Marco Ritelli, Marina Colombi
The αvβ3 integrin, an endothelial cells' receptor-binding fibronectin (FN) in the extracellular matrix (ECM) of blood vessels, regulates ECM remodeling during migration, invasion, angiogenesis, wound healing and inflammation, and is also involved in the epithelial mesenchymal transition. In vitro-grown human control fibroblasts organize a fibrillar network of FN, which is preferentially bound on the entire cell surface to its canonical α5β1 integrin receptor, whereas the αvβ3 integrin is present only in rare patches in focal contacts...
March 26, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29520887/evaluation-of-a-patient-with-classical-ehlers-danlos-syndrome-due-to-a-9q34-duplication-affecting-col5a1
#5
Yukiko Kuroda, Ikuko Ohashi, Takuya Naruto, Kazumi Ida, Yumi Enomoto, Toshiyuki Saito, Jun-Ichi Nagai, Kenji Kurosawa
Ehlers-Danlos syndrome classical type is a connective tissue disorder characterized by skin hyperextensibility, atrophic scarring, and joint hypermobility. The condition typically results from mutations in COL5A1 or COL5A2 leading to the functional haploinsufficiency. Here, we report of a 24-year-old male with mild intellectual disability, dysmorphic features, and a phenotype consistent with Ehlers-Danlos syndrome classical type. A copy number variant-calling algorithm from panel sequencing data identified the deletions exons 2-11 and duplications of exons 12-67 within COL5A1...
March 9, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29499446/ehlers-danlos-syndromes-and-epilepsy-an-updated-review
#6
REVIEW
Francesca Cortini, Chiara Villa
The Ehlers-Danlos syndromes (EDS) comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs), characterised by joint hypermobility, hyperextensibility of the skin and tissue fragility that can induce symptoms from multiple organ systems. The latest EDS nosology distinguished thirteen subtypes with an overlap of phenotypic features, making the clinical diagnosis rather difficult and highlighting the importance of molecular diagnostic confirmation. Although the nervous system is not considered a primary target of the underlying molecular defect, recently, increasing attention has been focused on neurological manifestations of EDS...
April 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29381997/vascular-ehlers-danlos-syndrome-with-cryptorchidism-recurrent-pneumothorax-and-pulmonary-capillary-hemangiomatosis-like-foci-a-case-report
#7
Min A Park, So Youn Shin, Young Jin Kim, Myung Jae Park, Seung Hyeun Lee
RATIONALE: Vascular Ehlers-Danlos syndrome (vEDS) is a rare autosomal dominant inherited collagen disorder caused by defects or deficiency of pro-alpha 1 chain of type III procollagen encoded by COL3A1. vEDS is characterized not only by soft tissue manifestations including hyperextensibility of skin and joint hypermobility but also by early mortality due to rupture of arteries or vital organs. Although pulmonary complications are not common, vEDS cases complicated by pneumothorax, hemothorax, or intrapulmonary hematoma have been reported...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29375940/visceroptosis-and-the-ehlers-danlos-syndrome
#8
Stephen Kucera, Stephen N Sullivan
The case of a patient with visceroptosis and Ehlers-Danlos syndrome hypermobility type (RDS-HT) is reported here. The literature on this unusual but probably under-recognized complication is reviewed.
November 8, 2017: Curēus
https://www.readbyqxmd.com/read/29357706/cognitive-emotional-and-behavioral-considerations-for-chronic-pain-management-in-the-ehlers-danlos-syndrome-hypermobility-type-a-narrative-review
#9
Carolina Baeza-Velasco, Antonio Bulbena, Roberto Polanco-Carrasco, Roland Jaussaud
BACKGROUND: Ehlers-Danlos syndrome (EDS) hypermobility-type is the most common hereditary disorder of the connective tissue. The tissue fragility characteristic of this condition leads to multi-systemic symptoms in which pain, often severe, chronic, and disabling, is the most experienced. Clinical observations suggest that the complex patient with EDS hypermobility-type is refractory toward several biomedical and physical approaches. In this context and in accordance with the contemporary conceptualization of pain (biopsychosocial perspective), the identification of psychological aspects involved in the pain experience can be useful to improve interventions for this under-recognized pathology...
January 22, 2018: Disability and Rehabilitation
https://www.readbyqxmd.com/read/29328753/a-critical-analysis-of-the-perioperative-management-of-patients-with-ehlers-danlos-type-iv-vascular-syndrome
#10
Justyna Martin
This article discusses the perioperative care needs of patients with Ehlers Danlos type IV (vascular) syndrome. Ehlers Danlos syndrome (EDS) is a heritable group of connective tissue disorders characterised by varying degrees of tissue, blood vessel and internal organ fragility as well as skin and joint hypermobility (De Paepe and Malfait 2012).
September 2017: Journal of Perioperative Practice
https://www.readbyqxmd.com/read/29125009/exercise-beliefs-and-behaviours-of-individuals-with-joint-hypermobility-syndrome-ehlers-danlos-syndrome-hypermobility-type
#11
Jane V Simmonds, Anthony Herbland, Alan Hakim, Nelly Ninis, William Lever, Qasim Aziz, Mindy Cairns
PURPOSE: To explore exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type and to explore patient experiences of physiotherapy. METHODS: A cross sectional questionnaire survey design was used to collect quantitative and qualitative data from adult members of the Hypermobility Syndromes Association and Ehlers-Danlos Syndrome Support UK. Descriptive and inferential statistics were used to analyse the data...
November 10, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/29041819/subjective-health-complaints-and-illness-perception-amongst-adults-with-joint-hypermobility-syndrome-ehlers-danlos-syndrome-hypermobilitytype-a-cross-sectional-study
#12
Lena Hope, Birgit Juul-Kristensen, Helene Løvaas, Camilla Løvvik, Silje Maeland
OBJECTIVE: To investigate the prevalence and severity of subjective health complaints and describe illness perception in a population of Joint Hypermobility Syndrome or Ehlers-Danlos Syndrome-Hypermobile Type. METHOD: This study was a postal survey with a questionnaire battery on demographic data, subjective health complaints inventory, and illness perception. A total of 110 individuals diagnosed with Joint Hypermobility Syndrome or Ehlers-Danlos Syndrome-Hypermobile Type from two specialized hospitals in Norway were offered participation...
October 17, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/29032848/-ehlers-danlos-syndromes
#13
D-P Germain
Ehlers-Danlos syndromes (EDS) are a heterogeneous group of inheritable connective tissue disorders characterized by skin hyperextensibility, joint hypermobility and cutaneous fragility with delayed wound healing. Over and above these common features, they differ in the presence or absence of various organ and tissue abnormalities, and differences in genetic causal mechanisms and degree of severity. They are complex and multisystem diseases, with the majority being highly disabling because of major joint problems and neurosensory deficiencies, and in some cases, they may be life-threatening due to associated complications, especially vascular disorders...
December 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/28986003/postural-tachycardia-in-hypermobile-ehlers-danlos-syndrome-a-distinct-subtype
#14
Mitchell G Miglis, Brittany Schultz, Srikanth Muppidi
INTRODUCTION: It is not clear if patients with postural tachycardia syndrome (POTS) and Ehlers-Danlos syndrome (hEDS) differ from patients with POTS due to other etiologies. We compared the results of autonomic testing and healthcare utilization in POTS patients with and without hEDS. METHODS: Patients with POTS+hEDS (n=20) and POTS controls without hypermobility (n=20) were included in the study. All patients underwent autonomic testing, and the electronic medical records were reviewed to determine the number and types of medications patients were taking, as well as the number of outpatient, emergency department, and inpatient visits over the prior year...
December 2017: Autonomic Neuroscience: Basic & Clinical
https://www.readbyqxmd.com/read/28967365/hypermobility-the-ehlers-danlos-syndromes-and-chronic-pain
#15
REVIEW
Delfien Syx, Inge De Wandele, Lies Rombaut, Fransiska Malfait
Chronic widespread pain is a common complaint among individuals affected by generalised joint hypermobility. In the absence of other conditions that cause chronic pain, these individuals are usually diagnosed with joint hypermobility syndrome (JHS). JHS is a multifactorial trait with a strong genetic basis, but no specific genetic markers. Clinical overlap of JHS is seen with heritable connective tissue disorders, particularly with the Ehlers-Danlos syndrome, hypermobile type (hEDS). The Ehlers-Danlos syndromes (EDS) comprise a heterogeneous group of rare monogenic conditions that are characterised by joint hypermobility, skin and vascular fragility and generalised connective tissue friability, and are caused by genetic defects in an array of extracellular matrix genes...
September 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28924124/mobile-cecum-in-a-young-woman-with-ehlers-danlos-syndrome-hypermobility-type-a-case-report-and-review-of-the-literature
#16
Yoshihisa Fukuda, Yusuke Higuchi, Kanae Shinozaki, Yuji Tanigawa, Taro Abe, Nobuyoshi Hanaoka, Sunao Matsubayashi, Tomomi Yamaguchi, Tomoki Kosho, Koji Nakamichi
Ehlers-Danlos syndrome, hypermobility type (EDS-HT) is unexpectedly common and is associated with a high rate of gastrointestinal manifestations. We herein report the first documented case of mobile cecum associated with EDS-HT. A 21-year-old woman with repeated right lower abdominal pain was initially diagnosed with EDS-HT. Abdominal examinations performed in the supine position, such as CT and ultrasonography, showed no gross abnormalities. In contrast, oral barium gastrointestinal transit X-ray images obtained with changes in the patient's body position revealed position-dependent cecal volvulus with mobile cecum...
October 15, 2017: Internal Medicine
https://www.readbyqxmd.com/read/28906340/contemporary-approach-to-joint-hypermobility-and-related-disorders
#17
Marco Castori, Alan Hakim
PURPOSE OF REVIEW: Joint hypermobility is a common, although largely ignored physical sign. Joint hypermobility is often asymptomatic but may be a feature of an underlying genetic disorder with systemic manifestations. The present article presents a comprehensive approach to considering joint hypermobility and clinically related issues in children and adults. RECENT FINDINGS: Ehlers-Danlos syndrome (EDS) is an umbrella term for various Mendelian connective tissue disorders sharing joint hypermobility, skin hyperextensibility, and tissue fragility...
December 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28870141/physical-and-psychosocial-characteristics-of-current-child-dancers-and-nondancers-with-systemic-joint-hypermobility-a-descriptive-analysis
#18
Leslie L Nicholson, Roger D Adams, Louise Tofts, Verity Pacey
Study Design Cross-sectional study. Background The effect of current participation in dance training on joint pain and instability, fatigue, and quality of life is unknown. Objectives To examine differences in joint pain, instability, gross motor skills, nonmusculoskeletal systemic manifestations, health-related quality of life (HRQoL), and fatigue between children with joint hypermobility syndrome/Ehlers-Danlos syndrome-hypermobility type (JHS/EDS-HT) who currently undertake formal dance training and those who do not...
October 2017: Journal of Orthopaedic and Sports Physical Therapy
https://www.readbyqxmd.com/read/28866967/a-humanisation-approach-for-the-management-of-joint-hypermobility-syndrome-ehlers-danlos-syndrome-hypermobility-type-jhs-eds-ht
#19
Carol J Clark, Isobel Knight
Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobility Type (JHS/EDS-HT) is a complex and multisystemic condition which significantly impacts on a person's health and well-being and is challenging for health professionals (HPs) to manage. People with JHS/EDS-HT and HPs recognise the individual nature and the complexities of the condition. There is a requirement to understand the condition within the context of the individual human dimensions of illness and healing. The aim of this paper is to explore the management of this condition using a theoretical model referred to as the Humanisation Framework...
December 2017: International Journal of Qualitative Studies on Health and Well-being
https://www.readbyqxmd.com/read/28781834/ehlers-danlos-hypermobility-type-in-an-adult-with-chronic-pain-and-fatigue-a-case-study
#20
Sarah Cohen, Fred Markham
Ehlers-Danlos syndrome hypermobility type (EDS-HT) is an underdiagnosed genetic connective tissue disorder that causes joint hypermobility and widespread pain. We present a patient with the chief complaint of shoulder pain, a long history of widespread joint pain, and associated comorbidities. EDS-HT provided a unifying diagnosis and direction for management.
August 2017: Clinical Case Reports
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