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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/27863848/hypermobility-and-musculoskeletal-pain-in-adolescents
#2
Susan L Morris, Peter B O'Sullivan, Kevin J Murray, Natasha Bear, Beth Hands, Anne J Smith
OBJECTIVE: To determine the prevalence of generalized joint hypermobility (GJH) in a large cohort of Australian children and determine the associations between GJH and musculoskeletal pain. STUDY DESIGN: This is a cross-sectional analysis of the Western Australian Pregnancy Cohort (Raine) Study. Hypermobility was measured in 1584 participants at 14 years of age using the Beighton scoring system, along with a range of other factors including musculoskeletal pain status...
November 16, 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/27852077/koolen-de-vries-syndrome-clinical-report-of-an-adult-and-literature-review
#3
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/27849244/influence-of-generalized-joint-hypermobility-on-temporomandibular-joint-and-dental-occlusion-a-cross-sectional-study
#4
Lais Chiodelli, Andrielle de Bitencourt Pacheco, Taiane Secretti Missau, Ana Maria Toniolo da Silva, Eliane Castilhos Rodrigues Corrêa
Purpose: To evaluate the dental occlusion and temporomandibular joint in women with and without generalized joint hypermobility. Methods: Generalized joint hypermobility was assessed by the Beighton score. Individuals were divided into two groups: with and without hypermobility. The Research Diagnostic Criteria for Temporomandibular Disorders was used to evaluate the temporomandibular joint. Dental occlusion was assessed according to Angle classification, overjet and overbite measures, presence of open bite or crossbite, pattern of disocclusion, and occlusal interference...
September 2016: CoDAS
https://www.readbyqxmd.com/read/27832746/exome-sequencing-identifies-pathogenic-variants-of-vps13b-in-a-patient-with-familial-16p11-2-duplication
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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/27744046/kinematic-analysis-of-subtalar-eversion-during-gait-in-women-with-fibromyalgia
#12
Ana Paula Silva, Daniel das Virgens Chagas, Maria Lúcia Cavaliere, Sérgio Pinto, José Silvio de Oliveira Barbosa, Luiz Alberto Batista
OBJECTIVE: To analyse the subtalar eversion range of motion during walking in women with fibromyalgia. METHOD: Twenty women diagnosed with fibromyalgia were directed to walk barefoot at comfortable and self-paced speed on a 7m walkway. Subtalar eversion range of motion was measured using the difference between the maximum and minimum values of subtalar eversion in stance phase. A range of motion between 4°-6° was considered as reference values for subtalar eversion during gait...
August 2016: Foot
https://www.readbyqxmd.com/read/27743500/pregnancy-outcome-in-joint-hypermobility-syndrome-and-ehlers-danlos-syndrome
#13
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/27737608/a-prospective-cohort-study-investigating-the-effect-of-generalized-joint-hypermobility-on-outcomes-after-arthroscopic-anterior-shoulder-stabilization
#14
Loukas Koyonos, Matthew J Kraeutler, Daniel F O'Brien, Michael G Ciccotti, Christopher C Dodson
OBJECTIVES: Generalized joint laxity has been proposed as a significant risk factor for failure after arthroscopic anterior shoulder stabilization. The purpose of this study was to prospectively measure joint mobility in patients undergoing arthroscopic anterior shoulder stabilization and to determine whether hypermobility is a risk factor for worse outcomes compared with patients having normal joint mobility. METHODS: Patients with anterior shoulder instability were prospectively enrolled...
October 13, 2016: Physician and Sportsmedicine
https://www.readbyqxmd.com/read/27729715/surgical-stabilization-for-symptomatic-carpometacarpal-hypermobility-a-randomized-comparison-of-a-dorsal-and-a-volar-technique-and-a-cohort-of-the-volar-technique
#15
Kim Robin Spekreijse, Guus Maarten Vermeulen, Thybout M Moojen, Harm P Slijper, Steven E R Hovius, Ruud W Selles, Reinier Feitz
BACKGROUND: Hypermobility of the first carpometacarpal joint is mostly surgically treated with a volar approached stabilization by Eaton, but recent studies indicate the importance of the dorsoradial and intermetacarpal ligaments (DRL and IML) for carpometacarpal joint stability. The aim of this study was to compare a dorsal and volar technique for primary carpometacarpal hypermobility regarding pain and functional outcome. METHODS: Patients with non-degenerative, painful carpometacarpal hypermobility were included and were randomly assigned to either the volar technique using the FCR, or a dorsal technique using the ECRL...
2016: European Journal of Plastic Surgery
https://www.readbyqxmd.com/read/27717910/a-case-of-constitutional-trisomy-3-mosaicism-in-a-teenage-patient-with-mild-phenotype
#16
Mariana Kekis, Sayaka Hashimoto, Carol Deeg, Inga Calloway, Aimee McKinney, Christine Shuss, Scott Hickey, Caroline Astbury
Constitutional mosaicism for trisomy 3 is extremely rare, with only a few postnatally diagnosed cases reported in the literature. We report a case of constitutional trisomy 3 mosaicism in a 16-year-old female, who presented with chronic joint pain, easy bruising, joint hypermobility and dysmorphic features, including long, thin facies, over-folded dysplastic ears, and Pierre-Robin sequence (PRS) with cleft palate. The patient was small at birth, had cleft palate repair, developed chronic joint pain at age 12, and has a history of mild leukopenia and mild thrombocytopenia...
October 4, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27716255/alterations-in-neuromuscular-function-in-girls-with-generalized-joint-hypermobility
#17
Bente Rona Jensen, Jesper Sandfeld, Pia Sandfeld Melcher, Katrine Lyders Johansen, Peter Hendriksen, Birgit Juul-Kristensen
BACKGROUND: Generalized Joint Hypermobility (GJH) is associated with increased risk of musculoskeletal joint pain. We investigated neuromuscular performance and muscle activation strategy. METHODS: Girls with GJH and non-GJH (NGJH) performed isometric knee flexions (90°,110°,130°), and extensions (90°) at 20 % Maximum Voluntary Contraction, and explosive isometric knee flexions while sitting. EMG was recorded from knee flexor and extensor muscles. RESULTS: Early rate of torque development was 53 % faster for GJH...
October 3, 2016: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/27695362/reduction-of-central-neuropathic-pain-with-ketamine-infusion-in-a-patient-with-ehlers-danlos-syndrome-a-case-report
#18
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
#19
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/27633633/current-and-future-perspectives-on-lumbar-degenerative-disc-disease-a-uk-survey-exploring-specialist-multidisciplinary-clinical-opinion
#20
Janet A Deane, Alison H McGregor
OBJECTIVES: Despite lumbar degenerative disc disease (LDDD) being significantly associated with non-specific low back pain and effective treatment remaining elusive, specialist multidisciplinary clinical stakeholder opinion remains unexplored. The present study examines the views of such experts. DESIGN: A reliable and valid electronic survey was designed to establish trends using theoretical constructs relating to current assessment and management practices. Clinicians from the Society of Back Pain Research (SBPR) UK were invited to take part...
September 15, 2016: BMJ Open
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