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Joint hypermobility syndrome

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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/27852077/koolen-de-vries-syndrome-clinical-report-of-an-adult-and-literature-review
#2
Claudia Ciaccio, Chiara Dordoni, Marco Ritelli, Marina Colombi
Koolen-de Vries syndrome (KdS) is a rare genetic condition characterized by typical facial dysmorphisms, cardiac and renal defects, skeletal anomalies, developmental delay, and intellectual disability of variable level. It is caused by a 440-680-kb deletion in the 17q21.31 region, encompassing CRHR1, MAPT, IMP5, STH, and KANSL1, or by an intragenic KANSL1 mutation. The majority of the patients reported are pediatric or young adults, and long-term studies able to define the prognosis of the disease are lacking...
November 17, 2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/27832746/exome-sequencing-identifies-pathogenic-variants-of-vps13b-in-a-patient-with-familial-16p11-2-duplication
#3
Jila Dastan, Chieko Chijiwa, Flamingo Tang, Sally Martell, Ying Qiao, Evica Rajcan-Separovic, M E Suzanne Lewis
BACKGROUND: The recurrent microduplication of 16p11.2 (dup16p11.2) is associated with a broad spectrum of neurodevelopmental disorders (NDD) confounded by incomplete penetrance and variable expressivity. This inter- and intra-familial clinical variability highlights the importance of personalized genetic counselling in individuals at-risk. CASE PRESENTATION: In this study, we performed whole exome sequencing (WES) to look for other genomic alterations that could explain the clinical variability in a family with a boy presenting with NDD who inherited the dup16p11...
November 10, 2016: BMC Medical Genetics
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/27812333/fibrillins-in-tendon
#5
REVIEW
Betti Giusti, Guglielmina Pepe
Tendons among connective tissue, mainly collagen, contain also elastic fibers (EF) made of fibrillin 1, fibrillin 2 and elastin that are broadly distributed in tendons and represent 1-2% of the dried mass of the tendon. Only in the last years, studies on structure and function of EF in tendons have been performed. Aim of this review is to revise data on the organization of EF in tendons, in particular fibrillin structure and function, and on the clinical manifestations associated to alterations of EF in tendons...
2016: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/27802895/a-connective-tissue-disorder-may-underlie-essence-problems-in-childhood
#6
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/27758814/unusual-case-of-globe-perforation-the-brittle-cornea-without-systemic-manifestations
#7
Shilpa Ajit Joshi, Shalomith Uppapalli, Pranav More, Madan Deshpande
Brittle cornea syndrome is a rare generalised connective tissue disorder with ocular features like keratoglobus or keratoconus, severe corneal thinning and a high risk of perforation. Various authors in different case reports and case series have brought out the fact that brittle cornea is a disorder with characteristic systemic manifestations such as deafness, joint hypermobility, hyperelasticity of skin, kyphoscoliosis and dental abnormalities alongwith ophthalmic features. We report a case of globe perforation following trivial trauma, in an individual with brittle cornea without any extraocular manifestations, posing a challenge in the diagnosis and dilemma in surgical repair of cornea, restoration of globe integrity and visual rehabilitation...
October 7, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27749843/elevated-basal-serum-tryptase-identifies-a-multisystem-disorder-associated-with-increased-tpsab1-copy-number
#8
Jonathan J Lyons, Xiaomin Yu, Jason D Hughes, Quang T Le, Ali Jamil, Yun Bai, Nancy Ho, Ming Zhao, Yihui Liu, Michael P O'Connell, Neil N Trivedi, Celeste Nelson, Thomas DiMaggio, Nina Jones, Helen Matthews, Katie L Lewis, Andrew J Oler, Ryan J Carlson, Peter D Arkwright, Celine Hong, Sherene Agama, Todd M Wilson, Sofie Tucker, Yu Zhang, Joshua J McElwee, Maryland Pao, Sarah C Glover, Marc E Rothenberg, Robert J Hohman, Kelly D Stone, George H Caughey, Theo Heller, Dean D Metcalfe, Leslie G Biesecker, Lawrence B Schwartz, Joshua D Milner
Elevated basal serum tryptase levels are present in 4-6% of the general population, but the cause and relevance of such increases are unknown. Previously, we described subjects with dominantly inherited elevated basal serum tryptase levels associated with multisystem complaints including cutaneous flushing and pruritus, dysautonomia, functional gastrointestinal symptoms, chronic pain, and connective tissue abnormalities, including joint hypermobility. Here we report the identification of germline duplications and triplications in the TPSAB1 gene encoding α-tryptase that segregate with inherited increases in basal serum tryptase levels in 35 families presenting with associated multisystem complaints...
December 2016: Nature Genetics
https://www.readbyqxmd.com/read/27745832/periodontal-ehlers-danlos-syndrome-is-caused-by-mutations-in-c1r-and-c1s-which-encode-subcomponents-c1r-and-c1s-of-complement
#9
Ines Kapferer-Seebacher, Melanie Pepin, Roland Werner, Timothy J Aitman, Ann Nordgren, Heribert Stoiber, Nicole Thielens, Christine Gaboriaud, Albert Amberger, Anna Schossig, Robert Gruber, Cecilia Giunta, Michael Bamshad, Erik Björck, Christina Chen, David Chitayat, Michael Dorschner, Marcus Schmitt-Egenolf, Christopher J Hale, David Hanna, Hans Christian Hennies, Irene Heiss-Kisielewsky, Anna Lindstrand, Pernilla Lundberg, Anna L Mitchell, Deborah A Nickerson, Eyal Reinstein, Marianne Rohrbach, Nikolaus Romani, Matthias Schmuth, Rachel Silver, Fulya Taylan, Anthony Vandersteen, Jana Vandrovcova, Ruwan Weerakkody, Margaret Yang, F Michael Pope, Peter H Byers, Johannes Zschocke
Periodontal Ehlers-Danlos syndrome (pEDS) is an autosomal-dominant disorder characterized by early-onset periodontitis leading to premature loss of teeth, joint hypermobility, and mild skin findings. A locus was mapped to an approximately 5.8 Mb region at 12p13.1 but no candidate gene was identified. In an international consortium we recruited 19 independent families comprising 107 individuals with pEDS to identify the locus, characterize the clinical details in those with defined genetic causes, and try to understand the physiological basis of the condition...
November 3, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27743500/pregnancy-outcome-in-joint-hypermobility-syndrome-and-ehlers-danlos-syndrome
#10
Heléne E K Sundelin, Olof Stephansson, Kari Johansson, Jonas F Ludvigsson
INTRODUCTION: An increased risk of preterm birth in women with Joint Hypermobility Syndrome (JHS) or Ehlers-Danlos Syndrome (EDS) is suspected. MATERIAL AND METHODS: In this nationwide cohort study from 1997 through 2011, women with either JHS or EDS or both disorders were identified through the Swedish Patient Register, and linked to the Medical Birth Register. Thereby 314 singleton births to women with JHS/EDS before delivery were identified. These births were compared with 1,247,864 singleton births to women without a diagnosis of JHS/EDS...
October 14, 2016: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/27695362/reduction-of-central-neuropathic-pain-with-ketamine-infusion-in-a-patient-with-ehlers-danlos-syndrome-a-case-report
#11
Tony Chung Tung Lo, Stephen Tung Yeung, Sujin Lee, Kira Skavinski, Solomon Liao
OBJECTIVE: Ehlers-Danlos syndrome frequently causes acute and chronic pain because of joint subluxations and dislocations secondary to hypermobility. Current treatments for pain related to Ehlers-Danlos syndrome and central pain syndrome are inadequate. This case report discusses the therapeutic use of ketamine intravenous infusion as an alternative. CASE REPORT: A 27-year-old Caucasian female with a history of Ehlers-Danlos syndrome and spinal cord ischemic myelopathy resulting in central pain syndrome, presented with severe generalized body pain refractory to multiple pharmacological interventions...
2016: Journal of Pain Research
https://www.readbyqxmd.com/read/27663155/two-patients-with-ehlers-danlos-syndrome-type-viii-with-unexpected-hoarseness
#12
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/27632686/loss-of-function-mutations-in-the-x-linked-biglycan-gene-cause-a-severe-syndromic-form-of-thoracic-aortic-aneurysms-and-dissections
#13
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/27582382/recognizing-the-tenascin-x-deficient-type-of-ehlers-danlos-syndrome-a-cross-sectional-study-in-17-patients
#14
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/27567344/development-and-initial-validation-of-the-bristol-impact-of-hypermobility-questionnaire
#15
S Palmer, F Cramp, R Lewis, G Gould, E M Clark
OBJECTIVES: Stage 1 - to identify the impact of joint hypermobility syndrome (JHS) on adults; Stage 2 - to develop a questionnaire to assess the impact of JHS; and Stage 3 - to undertake item reduction and establish the questionnaire's concurrent validity. DESIGN: A mixed methods study employing qualitative focus groups and interviews (Stage 1); a working group of patients, clinicians and researchers, and 'think aloud' interviews (Stage 2); and quantitative analysis of questionnaire responses (Stage 3)...
May 4, 2016: Physiotherapy
https://www.readbyqxmd.com/read/27522240/-temporomandibular-disorders-and-ehlers-danlos-syndrome-hypermobility-type-a-case-control-study
#16
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
#17
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/27496265/benign-joint-hypermobility-minimally-impacts-autonomic-abnormalities-in-pediatric-subjects-with-chronic-functional-pain-disorders
#18
Gisela Chelimsky, Katja Kovacic, Pippa Simpson, Melodee Nugent, Donald Basel, Julie Banda, Thomas Chelimsky
OBJECTIVE: To determine if children with benign joint hypermobility (BJH) syndrome and chronic functional pain disorders have more autonomic dysfunction. STUDY DESIGN: Retrospective chart review study of pediatric patients seen in the pediatric neurogastroenterology and autonomic clinic who underwent autonomic testing and had either a Beighton score of ≥6 and met Brighton criteria for BJH (with BJH) or a score of ≤2 (no BJH). RESULTS: Twenty-one female subjects (10 without BJH) met inclusion criteria; 64% of BJH had diagnosis confirmed by genetics consultation...
October 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/27452334/whole-exome-sequencing-familial-genomic-triangulation-and-systems-biology-converge-to-identify-a-novel-nonsense-mutation-in-tab2-encoded-tgf-beta-activated-kinase-1-in-a-child-with-polyvalvular-syndrome
#19
Jaeger P Ackerman, John A Smestad, David J Tester, Muhammad Y Qureshi, Beau A Crabb, Nancy J Mendelsohn, Michael J Ackerman
OBJECTIVE: To use whole exome sequencing (WES) of a family trio to identify a genetic cause for polyvalvular syndrome. METHODS AND RESULTS: A male child was born with mild pulmonary valve stenosis and mild aortic root dilatation, and an atrial septal defect, ventricular septal defect, and patent ductus arteriosus that were closed surgically. Subsequently, the phenotype of polyvalvular syndrome with involvement of both semilunar and both atrioventricular valves emerged...
September 2016: Congenital Heart Disease
https://www.readbyqxmd.com/read/27440102/phenotypic-variability-and-diffuse-arterial-lesions-in-a-family-with-loeys-dietz-syndrome-type-4
#20
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
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