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Ehlers-Danlos, Hypermobility Type

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https://www.readbyqxmd.com/read/27908650/musculoskeletal-conditions-in-a-pediatric-population-with-ehlers-danlos-syndrome
#1
Courtney M Stern, Michael J Pepin, Joan M Stoler, Dennis E Kramer, Samantha A Spencer, Cynthia J Stein
OBJECTIVE: To describe musculoskeletal conditions in children with Ehlers-Danlos syndrome (EDS). STUDY DESIGN: A retrospective medical record review was performed, which evaluated 205 patients with EDS (ages 6-19 years) seen in sports medicine or orthopedic clinic at a large pediatric hospital over a 5-year period. RESULTS: Female (n = 147) and male (n = 57) patients were identified (mean age 12.7 years). The most common EDS subtype (55...
November 28, 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/27905201/the-symptom-matrix-using-a-formalism-based-approach-to-address-complex-syndromes-systematically
#2
Jennifer D Skillen
Complex rheumatological syndromes such as Systemic lupus erythematosus, Sjogren's Syndrome and many connective tissue disorders can be a challenge to classify and diagnose, due to their wide-ranging signs and symptoms, not all of which will necessarily be present in all patients. This can result in difficulties for the clinician, patient and researcher if signs and symptoms are either overlooked or are incorrectly included in the nosology or classification of diseases. This article presents a formalism-based approach to describing syndromes...
December 1, 2016: Musculoskeletal Care
https://www.readbyqxmd.com/read/27874893/abnormal-wound-healing-related-to-high-dose-systemic-corticosteroid-therapy-in-a-patient-with-ehlers-danlos-syndrome-benign-hypermobility-type
#3
Stephanie K Jacks, Matthew J Zirwas
The adverse impact of chronic corticosteroid therapy on wound healing has been well characterized, as has abnormal wound healing known to occur in the classic type of Ehlers-Danlos syndrome (EDS). In contrast, abnormal wound healing is absent in cases of EDS benign hypermobility type (EDS-BHT). We present the case of a patient with EDS-BHT with no history of abnormal wound healing who developed large nonhealing ulcers to sites of minor trauma after initiating therapy with high-dose systemic corticosteroids for dermatomyositis...
October 2016: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/27824552/ehlers-danlos-syndrome-hypermobility-type-a-much-neglected-multisystemic-disorder
#4
REVIEW
Yael Gazit, Giris Jacob, Rodney Grahame
Ehlers-Danlos syndrome (EDS)-hypermobility type (HT) is considered to be the most common subtype of EDS and the least severe one; EDS-HT is considered to be identical to the joint hypermobility syndrome and manifests with musculoskeletal complaints, joint instability, and soft tissue overuse injury. Musculoskeletal complaints manifest with joint pain of non-inflammatory origin and/or spinal pain. Joint instability leads to dislocation or subluxation and involves peripheral joints as well as central joints, including the temporomandibular joints, sacroiliac joints, and hip joints...
October 31, 2016: Rambam Maimonides Medical Journal
https://www.readbyqxmd.com/read/27802895/a-connective-tissue-disorder-may-underlie-essence-problems-in-childhood
#5
REVIEW
Carolina Baeza-Velasco, Rodney Grahame, Jaime F Bravo
BACKGROUND: Ehlers-Danlos syndrome hypermobility type, also known as Joint Hypermobility Syndrome (EDS-HT/JHS), is the most common hereditary disorder of the connective tissue (HDCT). It is characterized by tissue fragility, joint hypermobility and a wide range of articular and non-articular manifestations, which often appear in infancy. The clinical picture of EDS-HT/JHS is poorly known by the medical community, as is the presence of "ESSENCE" (Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations) problems in affected children...
October 29, 2016: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/27683076/the-association-between-ehlers-danlos-syndrome-hypermobility-type-and-gastrointestinal-symptoms-in-university-students-a-cross-sectional-study
#6
A Fikree, R Aktar, J K Morris, R Grahame, C H Knowles, Q Aziz
BACKGROUND: Patients with Ehlers-Danlos syndrome-hypermobility type (EDS-HT) have increased prevalence of gastrointestinal (GI) symptoms, particularly reflux and dyspepsia. EDS-HT is associated with dysautonomia, psychopathology, and chronic pain which can be associated with GI symptoms. The association between GI symptoms and EDS-HT in a 'non-patient' population and the effect of the above-mentioned factors has never been studied. METHODS: In a cross sectional study, a hypermobility questionnaire was used to screen university students; further clinical examination established the diagnosis of EDS-HT...
September 28, 2016: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/27663155/two-patients-with-ehlers-danlos-syndrome-type-viii-with-unexpected-hoarseness
#7
S M C George, A Vandersteen, E Nigar, D J P Ferguson, E J Topham, F M Pope
Ehlers-Danlos syndrome (EDS) encompasses a genetically and clinically heterogeneous group of connective tissue disorders, characterized by joint hypermobility, skin hyperextensibility and tissue fragility. It is a rare condition, and inheritance is either autosomal dominant or recessive. Previously grouped into 11 different subtypes, with increasing knowledge of the underlying molecular defects, it was reclassified in 1997 into 6 major groups, with type VIII excluded from this classification. Type VIII EDS is a very rare subtype, characterized by severe, early-onset periodontitis, skin fragility and abnormal scarring...
October 2016: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/27660311/clinical-challenges-in-the-diagnosis-and-management-of-postural-tachycardia-syndrome
#8
Pearl K Jones, Brett H Shaw, Satish R Raj
Postural tachycardia syndrome (POTS) is a multifactorial clinical syndrome defined by an increase in heart rate of ≥30 bpm on standing from supine position (or ≥40 bpm in children). It is associated with symptoms of cerebral hypoperfusion that are worse when upright and improve when in supine position. Patients often have additional symptoms including severe fatigue and difficulty concentrating. There are several possible pathophysiologic mechanisms including hypovolaemia, small-fibre peripheral neuropathy and hyperadrenergic states...
September 22, 2016: Practical Neurology
https://www.readbyqxmd.com/read/27632686/loss-of-function-mutations-in-the-x-linked-biglycan-gene-cause-a-severe-syndromic-form-of-thoracic-aortic-aneurysms-and-dissections
#9
Josephina A N Meester, Geert Vandeweyer, Isabel Pintelon, Martin Lammens, Lana Van Hoorick, Simon De Belder, Kathryn Waitzman, Luciana Young, Larry W Markham, Julie Vogt, Julie Richer, Luc M Beauchesne, Sheila Unger, Andrea Superti-Furga, Milan Prsa, Rami Dhillon, Edwin Reyniers, Harry C Dietz, Wim Wuyts, Geert Mortier, Aline Verstraeten, Lut Van Laer, Bart L Loeys
PURPOSE: Thoracic aortic aneurysm and dissection (TAAD) is typically inherited in an autosomal dominant manner, but rare X-linked families have been described. So far, the only known X-linked gene is FLNA, which is associated with the periventricular nodular heterotopia type of Ehlers-Danlos syndrome. However, mutations in this gene explain only a small number of X-linked TAAD families. METHODS: We performed targeted resequencing of 368 candidate genes in a cohort of 11 molecularly unexplained Marfan probands...
September 15, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27619482/gynecologic-symptoms-and-the-influence-on-reproductive-life-in-386-women-with-hypermobility-type-ehlers-danlos-syndrome-a-cohort-study
#10
Justine Hugon-Rodin, Géraldine Lebègue, Stéphanie Becourt, Claude Hamonet, Anne Gompel
BACKGROUND: Hypermobile Ehlers-Danlos syndrome (hEDS), is probably the most common disease among heritable connective tissue disorders. It affects women more than men and causes symptoms in multiple organs. It is associated with chronic pain, skin fragility and abnormal bleeding. These characteristics may hamper reproductive life. We conducted a study to evaluate the gynecologic and obstetric outcomes in women with hEDS. We also explored a possible hormonal modulation of the hEDS symptoms...
2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27582382/recognizing-the-tenascin-x-deficient-type-of-ehlers-danlos-syndrome-a-cross-sectional-study-in-17-patients
#11
S Demirdas, E Dulfer, L Robert, M Kempers, D van Beek, D Micha, B G van Engelen, B Hamel, J Schalkwijk, B Loeys, A Maugeri, N C Voermans
The tenascin-X (TNX) deficient type Ehlers-Danlos syndrome (EDS) is similar to the classical type of EDS. Because of the limited awareness among geneticists and the challenge of the molecular analysis of the TNXB gene, the TNX-deficient type EDS is probably to be under diagnosed. We therefore performed an observational, cross-sectional study. History and physical examination were performed. Results of serum TNX measurements were collected and mutation analysis was performed by a combination of next-generation sequencing (NGS), Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA)...
September 1, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27555128/peripheral-nerve-block-in-patients-with-ehlers-danlos-syndrome-hypermobility-type-a-case-series
#12
Andrew E Neice, Eryn E Stubblefield, Glenn E Woodworth, Michael F Aziz
STUDY OBJECTIVE: Ehlers-Danlos syndrome (EDS) is an inherited disease characterized by defects in various collagens or their post translational modification, with an incidence estimated at 1 in 5000. Performance of peripheral nerve block in patients with EDS is controversial, due to easy bruising and hematoma formation after injections as well as reports of reduced block efficacy. The objective of this study was to review the charts of EDS patients who had received peripheral nerve block for any evidence of complications or reduced efficacy...
September 2016: Journal of Clinical Anesthesia
https://www.readbyqxmd.com/read/27522240/-temporomandibular-disorders-and-ehlers-danlos-syndrome-hypermobility-type-a-case-control-study
#13
D Diep, V Fau, S Wdowik, B Bienvenu, H Bénateau, A Veyssière
INTRODUCTION: The Ehlers-Danlos syndrome, hypermobility type (EDS-HT) is a rare genetic disease. Diagnosis is based on a combination of clinical criteria described in the classification of Villefranche. Diagnosis is difficult to make because of the lack of specific clinical signs and the absence of genetic testing. The EDS-TH manifests itself manly by musculoskeletal pain and joint hypermobility. Temporomandibular disorders (TMD) are also reported. Our aim was to objectify the presence and to qualify the type of TMD associated with the EDS-HT in order to propose an additional diagnostic argument...
September 2016: Revue de Stomatologie, de Chirurgie Maxillo-faciale et de Chirurgie Orale
https://www.readbyqxmd.com/read/27518164/transcriptome-wide-expression-profiling-in-skin-fibroblasts-of-patients-with-joint-hypermobility-syndrome-ehlers-danlos-syndrome-hypermobility-type
#14
Nicola Chiarelli, Giulia Carini, Nicoletta Zoppi, Chiara Dordoni, Marco Ritelli, Marina Venturini, Marco Castori, Marina Colombi
Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT), is likely the most common systemic heritable connective tissue disorder, and is mostly recognized by generalized joint hypermobility, joint instability complications, minor skin changes and a wide range of satellite features. JHS/EDS-HT is considered an autosomal dominant trait but is still without a defined molecular basis. The absence of (a) causative gene(s) for JHS/EDS-HT is likely attributable to marked genetic heterogeneity and/or interaction of multiple loci...
2016: PloS One
https://www.readbyqxmd.com/read/27440102/phenotypic-variability-and-diffuse-arterial-lesions-in-a-family-with-loeys-dietz-syndrome-type-4
#15
Jean-Michaël Mazzella, Michael Frank, Patrick Collignon, Maud Langeois, Anne Legrand, Xavier Jeunemaitre, Juliette Albuisson
Syndromic thoracic aortic aneurysm and dissection (TAAD) can suggest Marfan, vascular Ehlers-Danlos or Loeys-Dietz (LDS) syndromes. Several of the TGFβ-pathway related genes predispose to different types of LDS. Heterozygous loss-of-function variations in TGFβ2 have been shown to be responsible for a novel form of syndromic TAAD associated with an impairment of the mitral valve and cerebrovascular disease called Loeys-Dietz syndrome type 4 (LDS4). We report the clinical characterization of a LDS4 French family with sudden deaths and diffuse vascular lesions, caused by a frameshift mutation in TGFβ2 gene: c...
July 21, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27339264/the-association-between-muscle-strength-and-activity-limitations-in-patients-with-the-hypermobility-type-of-ehlers-danlos-syndrome-the-impact-of-proprioception
#16
Mark Scheper, Lies Rombaut, Janneke de Vries, Inge De Wandele, Martin van der Esch, Bart Visser, Franciska Malfait, Patrick Calders, Raoul Engelbert
PURPOSE: The patients diagnosed with Ehlers-Danlos Syndrome Hypermobility Type (EDS-HT) are characterized by pain, proprioceptive inacuity, muscle weakness, potentially leading to activity limitations. In EDS-HT, a direct relationship between muscle strength, proprioception and activity limitations has never been studied. The objective of the study was to establish the association between muscle strength and activity limitations and the impact of proprioception on this association in EDS-HT patients...
June 24, 2016: Disability and Rehabilitation
https://www.readbyqxmd.com/read/27306637/small-fiber-neuropathy-is-a-common-feature-of-ehlers-danlos-syndromes
#17
Daniele Cazzato, Marco Castori, Raffaella Lombardi, Francesca Caravello, Eleonora Dalla Bella, Antonio Petrucci, Paola Grammatico, Chiara Dordoni, Marina Colombi, Giuseppe Lauria
OBJECTIVE: To investigate the involvement of small nerve fibers in Ehlers-Danlos syndrome (EDS). METHODS: Patients diagnosed with EDS underwent clinical, neurophysiologic, and skin biopsy assessment. We recorded sensory symptoms and signs and evaluated presence and severity of neuropathic pain according to the Douleur Neuropathique 4 (DN4) and ID Pain questionnaires and the Numeric Rating Scale (NRS). Sensory action potential amplitude and conduction velocity of sural nerve was recorded...
July 12, 2016: Neurology
https://www.readbyqxmd.com/read/27297501/ehlers-danlos-syndrome-caused-by-biallelic-tnxb-variants-in-patients-with-congenital-adrenal-hyperplasia
#18
Wuyan Chen, Ashley F Perritt, Rachel Morissette, Jennifer L Dreiling, Markus-Frederik Bohn, Ashwini Mallappa, Zhi Xu, Martha Quezado, Deborah P Merke
Some variants that cause autosomal-recessive congenital adrenal hyperplasia (CAH) also cause hypermobility type Ehlers-Danlos syndrome (EDS) due to the monoallelic presence of a chimera disrupting two flanking genes: CYP21A2, encoding 21-hydroxylase, necessary for cortisol and aldosterone biosynthesis, and TNXB, encoding tenascin-X, an extracellular matrix protein. Two types of CAH tenascin-X (CAH-X) chimeras have been described with a total deletion of CYP21A2 and characteristic TNXB variants. CAH-X CH-1 has a TNXB exon 35 120-bp deletion resulting in haploinsufficiency, and CAH-X CH-2 has a TNXB exon 40 c...
September 2016: Human Mutation
https://www.readbyqxmd.com/read/27273746/quality-of-life-unmet-needs-and-iatrogenic-injuries-in-rehabilitation-of-patients-with-ehlers-danlos-syndrome-hypermobility-type-joint-hypermobility-syndrome
#19
Claire Bovet, Matthew Carlson, Matthew Taylor
Ehlers-Danlos Syndrome, hypermobility type (EDS-HT) and the joint hypermobility syndrome (JHS) are connective tissue disorders that form an overlapping clinical syndrome and are associated with frequent medical visits and substantial morbidity. EDS-HT/JHS-associated pain correlates with poor quality of life. While physical therapy is the recommended treatment for EDS-HT/JHS, little is known about therapy-related patient experiences and iatrogenic injuries. We studied 38 adult EDS-HT/JHS patients, eliciting health-related quality of life (HRQoL) from 28 patients through the RAND SF-36 questionnaire...
August 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27236034/a-method-for-quantification-of-serum-tenascin-x-by-nano-lc-ms-ms
#20
Kazuo Yamada, Atsushi Watanabe, Haruo Takeshita, Ken-Ichi Matsumoto
BACKGROUND: Complete deficiency of an extracellular matrix tenascin-X (TNX) leads to a classical type of Ehlers-Danlos syndrome (EDS). TNX haploinsufficiency is a cause of hypermobility type of EDS. Human TNX is also present in a serum form (sTNX) with a molecular size of 140kDa. In this study, we established a method for quantification of sTNX using nano-liquid chromatography tandem mass spectrometry (LC/MS/MS) with selected/multiple reaction monitoring. METHODS: Twelve abundant protein-depleted sera were reduced, alkylated, and digested with Lys-C and trypsin...
August 1, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
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