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Hypermobility syndrome

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https://www.readbyqxmd.com/read/28442527/a-novel-fibrillin-1-gene-mutation-leading-to-marfan-syndrome-in-a-korean-girl
#1
Hyo-Kyoung Nam, Myung-Hyun Nam, Kee-Soo Ha, Young-Jun Rhie, Kee-Hyoung Lee
Marfan syndrome is an autosomal dominant genetic disorder caused by a connective tissue defect. A nine-year-old girl was referred to our pediatric endocrinology clinic for tall stature. Physical examination revealed a lens dislocation with strabismus, high palate, positive wrist and thumb signs, joint hypermobility, and pes planus. Transthoracic echocardiography revealed dilatation of the aortic root. She was diagnosed with Marfan syndrome based on the revised Ghent diagnostic criteria. Molecular investigation identified a heterozygous c...
March 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/28436618/natural-history-of-aortic-root-dilation-through-young-adulthood-in-a-hypermobile-ehlers-danlos-syndrome-cohort
#2
Alyssa Ritter, Carrie Atzinger, Brandon Hays, Jeanne James, Amy Shikany, Derek Neilson, Lisa Martin, Kathryn Nicole Weaver
Hypermobile Ehlers-Danlos syndrome (hEDS) is a common inherited connective tissue disorder characterized by joint hypermobility. The natural history of aortic root dilation (AoD), a potential complication of EDS, has not been well characterized in this population. We describe the natural history of aortic root size in a large cohort of patients with hEDS. A cohort of 325 patients with HEDS was identified at Cincinnati Children's Hospital Medical Center (CCHMC), including 163 patients from a previous study. Medical records were reviewed and each participant's height, weight, and aortic dimensions from up to four echocardiograms were documented...
April 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28431150/the-natural-history-of-children-with-joint-hypermobility-syndrome-and-ehlers-danlos-hypermobility-type-a-longitudinal-cohort-study
#3
Mark C Scheper, Lesley L Nicholson, Roger D Adams, Louise Tofts, Verity Pacey
Objectives.: The objective of the manuscript was to describe the natural history of complaints and disability in children diagnosed with joint hypermobility syndrome (JHS)/Ehlers-Danlos-hypermobility type (EDS-HT) and to identify the constructs that underlie functional decline. Methods.: One hundred and one JHS/EDS-HT children were observed over 3 years and assessed at three time points on the following: functional impairments, quality of life, connective tissue laxity, muscle function, postural control and musculoskeletal and multi-systemic complaints...
April 18, 2017: Rheumatology
https://www.readbyqxmd.com/read/28422173/critical-involvement-of-zeb2-in-collagen-fibrillogenesis-the-molecular-similarity-between-mowat-wilson-syndrome-and-ehlers-danlos-syndrome
#4
Mika Teraishi, Mikiro Takaishi, Kimiko Nakajima, Mitsunori Ikeda, Yujiro Higashi, Shinji Shimoda, Yoshinobu Asada, Atsushi Hijikata, Osamu Ohara, Yoko Hiraki, Seiji Mizuno, Toshiyuki Fukada, Takahisa Furukawa, Nobuaki Wakamatsu, Shigetoshi Sano
Mowat-Wilson syndrome (MOWS) is a congenital disease caused by de novo heterozygous loss of function mutations or deletions of the ZEB2 gene. MOWS patients show multiple anomalies including intellectual disability, a distinctive facial appearance, microcephaly, congenital heart defects and Hirschsprung disease. However, the skin manifestation(s) of patients with MOWS has not been documented in detail. Here, we recognized that MOWS patients exhibit many Ehlers-Danlos syndrome (EDS)-like symptoms, such as skin hyperextensibility, atrophic scars and joint hypermobility...
April 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28414775/xp11-22-deletions-encompassing-cenpvl1-cenpvl2-maged1-and-gspt2-as-a-cause-of-syndromic-x-linked-intellectual-disability
#5
Christina Grau, Molly Starkovich, Mahshid S Azamian, Fan Xia, Sau Wai Cheung, Patricia Evans, Alex Henderson, Seema R Lalani, Daryl A Scott
By searching a clinical database of over 60,000 individuals referred for array-based CNV analyses and online resources, we identified four males from three families with intellectual disability, developmental delay, hypotonia, joint hypermobility and relative macrocephaly who carried small, overlapping deletions of Xp11.22. The maximum region of overlap between their deletions spanned ~430 kb and included two pseudogenes, CENPVL1 and CENPVL2, whose functions are not known, and two protein coding genes-the G1 to S phase transition 2 gene (GSPT2) and the MAGE family member D1 gene (MAGED1)...
2017: PloS One
https://www.readbyqxmd.com/read/28386937/a-recognizable-systemic-connective-tissue-disorder-with-polyvalvular-heart-dystrophy-and-dysmorphism-associated-with-tab2-mutations
#6
Marco Ritelli, Silvia Morlino, Edoardo Giacopuzzi, Laura Bernardini, Barbara Torres, Graziano Santoro, Viola Ravasio, Nicola Chiarelli, Daniela D'Angelantonio, Antonio Novelli, Paola Grammatico, Marina Colombi, Marco Castori
Deletions encompassing TAK1-binding protein 2 (TAB2) associate with isolated and syndromic congenital heart defects. Rare missense variants are found in patients with a similar phenotype as well as in a single individual with frontometaphyseal dysplasia. We describe a family and an additional sporadic patient with polyvalvular heart disease, generalized joint hypermobility and related musculoskeletal complications, soft, velvety and hyperextensible skin, short limbs, hearing impairment, and facial dysmorphism...
April 6, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28361275/effects-of-spinal-stabilization-exercises-in-women-with-benign-joint-hypermobility-syndrome-a-randomized-controlled-trial
#7
Seyda Toprak Celenay, Derya Ozer Kaya
The aim of this study was to investigate the effects of an 8-week lumbar spinal stabilization exercise program on pain, trunk muscle endurance, and postural stability in women with benign joint hypermobility syndrome (BJHS). Women with BJHS were randomly allocated into exercise (n = 20) and control (n = 18) groups. The lumbar spinal stabilization exercise program was carried out 3 days a week for 8 weeks. BJHS with Brighton criteria, musculoskeletal pain intensity with Visual Analog Scale, trunk muscle endurance with McGill's trunk muscle endurance tests, and postural stability as static and dynamic while eyes open and closed with Biodex Balance System SD were evaluated...
March 30, 2017: Rheumatology International
https://www.readbyqxmd.com/read/28346368/pathophysiological-significance-of-dermatan-sulfate-proteoglycans-revealed-by-human-genetic-disorders
#8
REVIEW
Shuji Mizumoto, Tomoki Kosho, Shuhei Yamada, Kazuyuki Sugahara
The indispensable roles of dermatan sulfate-proteoglycans (DS-PGs) have been demonstrated in various biological events including construction of the extracellular matrix and cell signaling through interactions with collagen and transforming growth factor-β, respectively. Defects in the core proteins of DS-PGs such as decorin and biglycan cause congenital stromal dystrophy of the cornea, spondyloepimetaphyseal dysplasia, and Meester-Loeys syndrome. Furthermore, mutations in human genes encoding the glycosyltransferases, epimerases, and sulfotransferases responsible for the biosynthesis of DS chains cause connective tissue disorders including Ehlers-Danlos syndrome and spondyloepimetaphyseal dysplasia with joint laxity characterized by skin hyperextensibility, joint hypermobility, and tissue fragility, and by severe skeletal disorders such as kyphoscoliosis, short trunk, dislocation, and joint laxity...
March 27, 2017: Pharmaceuticals
https://www.readbyqxmd.com/read/28344932/mutation-in-tnxb-gene-causes-moderate-to-severe-ehlers-danlos-syndrome
#9
Carolyn S Kaufman, Merlin G Butler
We report a 28-year-old female who presented with severe joint pain, chronic muscle weakness, Raynaud's phenomenon, and hypermobility. She was found to have a 6074A > T nucleotide transition in the TNXB gene causing an amino acid protein change at Asp2025Val classified as likely pathogenic. We add this clinical report to the literature and classical human disease gene catalogs to identify this specific mutation as disease-causing. This gene variant was reported previously in a different 36-year-old patient who shared our patient's symptoms of joint hypermobility, skeletal and joint pain, skin elasticity and musculoskeletal problems, thereby causing a more severe presentation than seen in the hypermobility type of Ehlers-Danlos syndrome (EDS)...
May 27, 2016: World Journal of Medical Genetics
https://www.readbyqxmd.com/read/28306231/cover-image-volume-175c-number-1-march-2017
#10
(no author information available yet)
The cover image, by Brad Tinkle et al., is based on the Research Article Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history, DOI: 10.1002/ajmg.c.31538.
March 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28306230/the-evidence-based-rationale-for-physical-therapy-treatment-of-children-adolescents-and-adults-diagnosed-with-joint-hypermobility-syndrome-hypermobile-ehlers-danlos-syndrome
#11
Raoul H H Engelbert, Birgit Juul-Kristensen, Verity Pacey, Inge de Wandele, Sandy Smeenk, Nicoleta Woinarosky, Stephanie Sabo, Mark C Scheper, Leslie Russek, Jane V Simmonds
New insights into the phenotype of Joint Hypermobility Syndrome (JHS) and Ehlers-Danlos Syndrome-hypermobile type (hEDS) have raised many issues in relation to classification, diagnosis, assessment, and treatment. Within the multidisciplinary team, physical therapy plays a central role in management of individuals with hypermobility related disorders. However, many physical therapists are not familiar with the diagnostic criteria, prevalence, common clinical presentation, and management. This guideline aims to provide practitioners with the state of the art regarding the assessment and management of children, adolescents, and adults with JHS/hEDS...
March 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28306229/the-2017-international-classification-of-the-ehlers-danlos-syndromes
#12
Fransiska Malfait, Clair Francomano, Peter Byers, John Belmont, Britta Berglund, James Black, Lara Bloom, Jessica M Bowen, Angela F Brady, Nigel P Burrows, Marco Castori, Helen Cohen, Marina Colombi, Serwet Demirdas, Julie De Backer, Anne De Paepe, Sylvie Fournel-Gigleux, Michael Frank, Neeti Ghali, Cecilia Giunta, Rodney Grahame, Alan Hakim, Xavier Jeunemaitre, Diana Johnson, Birgit Juul-Kristensen, Ines Kapferer-Seebacher, Hanadi Kazkaz, Tomoki Kosho, Mark E Lavallee, Howard Levy, Roberto Mendoza-Londono, Melanie Pepin, F Michael Pope, Eyal Reinstein, Leema Robert, Marianne Rohrbach, Lynn Sanders, Glenda J Sobey, Tim Van Damme, Anthony Vandersteen, Caroline van Mourik, Nicol Voermans, Nigel Wheeldon, Johannes Zschocke, Brad Tinkle
The Ehlers-Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Over the past two decades, the Villefranche Nosology, which delineated six subtypes, has been widely used as the standard for clinical diagnosis of EDS. For most of these subtypes, mutations had been identified in collagen-encoding genes, or in genes encoding collagen-modifying enzymes. Since its publication in 1998, a whole spectrum of novel EDS subtypes has been described, and mutations have been identified in an array of novel genes...
March 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28306225/the-ehlers-danlos-syndromes-rare-types
#13
REVIEW
Angela F Brady, Serwet Demirdas, Sylvie Fournel-Gigleux, Neeti Ghali, Cecilia Giunta, Ines Kapferer-Seebacher, Tomoki Kosho, Roberto Mendoza-Londono, Michael F Pope, Marianne Rohrbach, Tim Van Damme, Anthony Vandersteen, Caroline van Mourik, Nicol Voermans, Johannes Zschocke, Fransiska Malfait
The Ehlers-Danlos syndromes comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders, which are characterized by joint hypermobility, skin hyperextensibility, and tissue friability. In the Villefranche Nosology, six subtypes were recognized: The classical, hypermobile, vascular, kyphoscoliotic, arthrochalasis, and dermatosparaxis subtypes of EDS. Except for the hypermobile subtype, defects had been identified in fibrillar collagens or in collagen-modifying enzymes. Since 1997, a whole spectrum of novel, clinically overlapping, rare EDS-variants have been delineated and genetic defects have been identified in an array of other extracellular matrix genes...
March 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28293451/investigation-of-joint-hypermobility-in-individuals-with-hyperbilirubinemia
#14
Muhammet Çınar, Mustafa Çakar, Kadir Öztürk, İbrahim Çetindağlı, Sedat Yılmaz, Ayhan Dinç
OBJECTIVE: Benign joint hypermobility syndrome refers to hypermobile individuals with musculoskeletal symptoms in the absence of any systemic rheumatic disease; its prevalence is approximately 0.5%. In animal studies, bilirubin has been shown to reduce fibrosis induced by bleomycin. It has been suggested that bilirubin leads to hypermobility that affects the structure or function of collagen. In addition, our observation is that hypermobility occurs more often in patients with indirect hyperbilirubinemia...
March 2017: European Journal of Rheumatology
https://www.readbyqxmd.com/read/28286774/orthostatic-intolerance-and-postural-orthostatic-tachycardia-syndrome-in-joint-hypermobility-syndrome-ehlers-danlos-syndrome-hypermobility-type-neurovegetative-dysregulation-or-autonomic-failure
#15
Claudia Celletti, Filippo Camerota, Marco Castori, Federica Censi, Laura Gioffrè, Giovanni Calcagnini, Stefano Strano
Background. Joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT), is a hereditary connective tissue disorder mainly characterized by generalized joint hypermobility, skin texture abnormalities, and visceral and vascular dysfunctions, also comprising symptoms of autonomic dysfunction. This study aims to further evaluate cardiovascular autonomic involvement in JHS/EDS-HT by a battery of functional tests. Methods. The response to cardiovascular reflex tests comprising deep breathing, Valsalva maneuver, 30/15 ratio, handgrip test, and head-up tilt test was studied in 35 JHS/EDS-HT adults...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28286166/joint-hypermobility-syndrome-recognizing-a-commonly-overlooked-cause-of-chronic-pain
#16
REVIEW
Bharat Kumar, Petar Lenert
Joint hypermobility syndrome, also known as Benign Hypermobility Syndrome, is a connective tissue disease characterized by joint instability, chronic pain, and minor skin changes. It shares many clinical features of Ehlers-Danlos Syndrome, Hypermobility Type, enough so that many authorities consider them as one disease process. Approximately 3% of the general population is believed to have joint hypermobility syndrome, but despite this high prevalence, due to lack of awareness, heterogeneity of clinical presentation, and reliance on physical examination for diagnosis, it is largely overlooked by primary care physicians as well as by specialists...
March 9, 2017: American Journal of Medicine
https://www.readbyqxmd.com/read/28272092/chest-pain-from-hypermobility-responding-to-physical-therapy-in-an-adolescent
#17
Megan N Nash, Chloe A Liu, Brienna Maestas, Kristine U Layugan, Catherine C Culver, Jennifer King, David Kurahara
Hypermobility syndrome usually causes pain in limbs from extension type injuries. The authors report on a 16-yr-old female adolescent with incapacitating chest pain secondary to extreme hypermobility of the chest. This pain led the patient to see multiple specialists without improvement or diagnosis. Physical examination results revealed a very hypermobile patient who was able to internally rotate her shoulders inward until her elbows touched. This unusual hyperextension maneuver was achieved by holding the shoulders in anteversion with her hands on her hips (see figures in the article)...
March 6, 2017: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/28266107/refining-patterns-of-joint-hypermobility-habitus-and-orthopedic-traits-in-joint-hypermobility-syndrome-and-ehlers-danlos-syndrome-hypermobility-type
#18
Silvia Morlino, Chiara Dordoni, Isabella Sperduti, Marina Venturini, Claudia Celletti, Filippo Camerota, Marina Colombi, Marco Castori
Joint hypermobility syndrome (JHS) and Ehlers-Danlos syndrome, hypermobility type (EDS-HT) are two overlapping heritable disorders (JHS/EDS-HT) recognized by separated sets of diagnostic criteria and still lack a confirmatory test. This descriptive research was aimed at better characterizing the clinical phenotype of JHS/EDS-HT with focus on available diagnostic criteria, and in order to propose novel features and assessment strategies. One hundred and eighty-nine (163 females, 26 males; age: 2-73 years) patients from two Italian reference centers were investigated for Beighton score, range of motion in 21 additional joints, rate and sites of dislocations and sprains, recurrent soft-tissue injuries, tendon and muscle ruptures, body mass index, arm span/height ratio, wrist and thumb signs, and 12 additional orthopedic features...
March 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28220607/neurological-and-spinal-manifestations-of-the-ehlers-danlos-syndromes
#19
Fraser C Henderson, Claudiu Austin, Edward Benzel, Paolo Bolognese, Richard Ellenbogen, Clair A Francomano, Candace Ireton, Petra Klinge, Myles Koby, Donlin Long, Sunil Patel, Eric L Singman, Nicol C Voermans
The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders characterized by joint hypermobility, skin extensibility, and tissue fragility. This communication briefly reports upon the neurological manifestations that arise including the weakness of the ligaments of the craniocervical junction and spine, early disc degeneration, and the weakness of the epineurium and perineurium surrounding peripheral nerves. Entrapment, deformation, and biophysical deformative stresses exerted upon the nervous system may alter gene expression, neuronal function and phenotypic expression...
February 21, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28211643/postural-analysis-in-a-pediatric-cohort-of-patients-with-ehlers-danlos-syndrome-a-pilot-study
#20
Claudio Lisi, Serena Monteleone, Carmine Tinelli, Berardo Rinaldi, Giuseppe Di Natali, Salvatore Savasta
BACKGROUND: The Ehlers-Danlos Syndrome (EDS) is a rare disorder affecting the connective tissue. EDS patients may suffer of proprioception and balance impairment but all the studies dealing with such symptoms have been addressed to adult subjects. The Study of such impairment in younger patients may lead to a better awareness of own motor abilities and to a focused rehabilitative intervention. Therefore, our work aims to assess the occurrence of these alterations in a pediatric cohort of EDS patients...
February 17, 2017: Minerva Pediatrica
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