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Jillian Karpyshyn, Erin E Gordey, Catherine M Coady, Ivan H Wong
Posterior shoulder instability is an uncommon and challenging cause of shoulder pain and dysfunction. Surgical management has less reliable results and higher failure rates compared with techniques for anterior shoulder instability. The presence of generalized ligamentous laxity further complicates options for surgical management. If primary capsulolabral repair fails, controversy exists as to the optimal revision procedure. This technical description and video present an arthroscopic technique for reconstruction of the posterior glenohumeral capsule with an acellular dermal allograft to treat posterior instability in a patient with Ehlers-Danlos syndrome and a previously failed posterior capsular plication...
July 2018: Arthroscopy Techniques
Dayanand Hota, Mahesh Kumar, M Kavitha, Jaya S Kaushik
Atlantoaxial dislocation (AAD) occurs secondary to joint laxity between C1 and C2 vertebrae, resulting in loss of normal articulation and movement. Etiology of AAD could be genetic, inflammatory, or rarely traumatic. Majority of children with AAD are syndromic (such as Down syndrome) or genetic (such as Ehler-Danlos syndrome or Marfan syndrome). To the best of literature search, there were no reports of AAD among children with congenital hypothyroidism. This case highlights an uncommon association of AAD presenting with features of compressive myelopathy in a child with congenital hypothyroidism...
April 2018: Journal of Pediatric Neurosciences
Elyssa Cannaerts, Anju Shukla, Mensuda Hasanhodzic, Maaike Alaerts, Dorien Schepers, Lut Van Laer, Katta M Girisha, Iva Hojsak, Bart Loeys, Aline Verstraeten
BACKGROUND: Mutations in the X-linked gene filamin A (FLNA), encoding the actin-binding protein FLNA, cause a wide spectrum of connective tissue, skeletal, cardiovascular and/or gastrointestinal manifestations. Males are typically more severely affected than females with common pre- or perinatal death. CASE PRESENTATION: We provide a genotype- and phenotype-oriented literature overview of FLNA hemizygous mutations and report on two live-born male FLNA mutation carriers...
August 8, 2018: BMC Medical Genetics
Sarah A Hall, Emily Riehm Meier, Sweta Gupta, Charles Nakar, Angeli Rampersad, Nihal Bakeer, Brandon Hardesty, Manjusha Kumar
We present five patients with coexistent von Willebrand disease (VWD) and Ehlers-Danlos syndrome and 21 with VWD and joint hypermobility. Females outnumbered males ten to three, Beighton scores were documented in 58% (15 of 26 patients), and several patients experienced moderately severe bleeding. We believe coexistent hypermobility disorder with VWD potentially affects bleeding severity and want to raise awareness among hematologists. Evaluation by geneticists is recommended because of the varying complexities observed across the disease spectrum, and the availability of new genetic tests should lead to more accurate diagnoses for the various hypermobility disorders...
August 7, 2018: Pediatric Blood & Cancer
Charlotte Gistelinck, Ronald Y Kwon, Fransiska Malfait, Sofie Symoens, Matthew P Harris, Katrin Henke, Michael B Hawkins, Shannon Fisher, Patrick Sips, Brecht Guillemyn, Jan Willem Bek, Petra Vermassen, Hanna De Saffel, Paul Eckhard Witten, MaryAnn Weis, Anne De Paepe, David R Eyre, Andy Willaert, Paul J Coucke
The type I collagenopathies are a group of heterogeneous connective tissue disorders, that are caused by mutations in the genes encoding type I collagen and include specific forms of osteogenesis imperfecta (OI) and the Ehlers-Danlos syndrome (EDS). These disorders present with a broad disease spectrum and large clinical variability of which the underlying genetic basis is still poorly understood. In this study, we systematically analyzed skeletal phenotypes in a large set of zebrafish, with diverse mutations in the genes encoding type I collagen, representing different genetic forms of human OI, and a zebrafish model resembling human EDS, which harbors a number of soft connective tissues defects, typical of EDS...
August 6, 2018: Proceedings of the National Academy of Sciences of the United States of America
Irman Forghani
Efforts on recognition, diagnosis and management of the presumed, most common connective tissue disorder, Hypermobile Ehlers Danlos syndrome have been an ongoing challenge, decades after the description of this condition. The recent international consortium proposed a revised Ehlers Danlos syndrome classification, an update much needed since Villefranche nosology, in 1998. Hypermobile Ehlers Danlos is the only subtype in these groups of syndromes with no known genetic cause(s). This effort brought significant attention to this often underappreciated condition...
July 31, 2018: Balkan Medical Journal
Stephanie B Asher, Rensa Chen, Staci Kallish
Ehlers-Danlos syndromes (EDSs) are a group of inherited connective tissue disorders, and among them, classical EDS (cEDS) and hypermobile EDS (hEDS) are the most common. Mitral valve prolapse (MVP) and aortic root dilation (ARD) have previously been reported to occur at an increased frequency within cEDS and hEDS. More recently, a study performed in the pediatric population did not show increased prevalence (Ritter et al., American Journal of Medical Genetics Part A, 173(6), 1467-1472, 2017). The purpose of this study was to review a large population of individuals with cEDS, hEDS, and hypermobility spectrum disorders to determine the frequency of MVP and ARD...
July 31, 2018: American Journal of Medical Genetics. Part A
Jeffrey Choi, Kelvin Naito, Emily J Curry, Xinning Li
No abstract text is available yet for this article.
July 2018: Orthopaedic Journal of Sports Medicine
Shaheryar Khan, Caspar Gibbon, Steve Johns
Carotid cavernous fistula is an abnormal communication between the carotid arterial system and the cavernous sinus. We present an interesting, rare case of bilateral spontaneous 'Barrow type- C' fistula treated presumptively as conjunctivitis. A 66 year old patient presented in the eye casualty at North Devon District Hospital in January 2016, referred from her General practitioner complaining of bilateral red eyes. She was found to have large, prominently diffused and engorged scleral blood vessels on both sides along with raised intraocular pressures of 26mm of Hg bilaterally...
January 2018: Therapeutic advances in ophthalmology
Juan Wu, Jie Yang, Jie Zhao, Jingrong Wu, Xuan Zhang, W Keung Leung, Weibin Sun
AIM: We report a rare case of periodontal Ehlers-Danlos syndrome (pEDS) associated with severe periodontitis and tooth loss in a Chinese family. MATERIAL AND METHODS: The proband complained of gingival bleeding and mobility, which were also reported in his mother, and maternal uncle and his maternal grandmother and great-grandfather in the past. All family members underwent oral, physical, dermatological, and genetic examinations. RESULTS: Oral manifestation of family members affected with pEDS presented severe periodontitis with multiple or total tooth loss...
July 19, 2018: Journal of Clinical Periodontology
Vinisha Garg, Malcolm Bersohn, Janet K Han
No abstract text is available yet for this article.
July 2018: HeartRhythm Case Reports
Rafael Bonamichi-Santos, Kelly Yoshimi-Kanamori, Pedro Giavina-Bianchi, Marcelo Vivolo Aun
Mast cell activation disorders (MCADs) consist of episodic systemic symptoms due to mast cell mediator release. Diagnosis is based on clinical presentation and determination of high levels of tryptase or histamine. Ehlers-Danlos syndrome (EDS) and postural tachycardia syndrome (POTS) frequently coexist. It has been described that individuals with these syndromes can even present symptoms compatible to MCADs, which could represent a new specific phenotype. Preliminary genetic data suggest a role for tryptase in the pathogenesis of MCADs, EDS, and POTS association...
August 2018: Immunology and Allergy Clinics of North America
Mario Hevesi, Arif R Chaudhry, Eric R Wagner, Steven L Moran
Ehlers-Danlos Syndrome is a connective tissue disorder that results in joint and generalized tissue hyperlaxity, predisposing patients to early onset arthritis. An institutional database spanning 1999-2016 was reviewed for all patients with symptomatic carpometacarpal arthritis and coexisting Ehlers-Danlos Syndrome, resulting in 14 thumbs amongst nine patients followed clinically for a median of 5.9 years (range 1-15). Patients managed non-operatively demonstrated stable subjective pain and trended towards decreased range of motion over time, whereas patients managed operatively had significant improvements in pain and trended towards increased grip strength...
January 1, 2018: Journal of Hand Surgery, European Volume
Joseph M Legato, Megan OʼConnell, David A Fuller
PURPOSE: The purpose of this video is to demonstrate the surgical technique of a shoulder arthrodesis for a patient with multidirectional instability and multiple failed previous surgeries. METHODS: A 25-year-old woman with a long history of left shoulder multidirectional instability in the setting of Ehlers-Danlos syndrome is shown undergoing a shoulder arthrodesis. The video demonstrates intraoperative patient positioning, approach, shoulder osseous and articular preparation, implant placement (narrow 4...
August 2018: Journal of Orthopaedic Trauma
Kazunori Ueda, Tomoyuki Kawai, Haruki Senno, Atsushi Shimizu, Akira Ishiko, Masahiko Nagata
Patellar luxation is abnormal displacement of the patella from the femoral trochlear groove. It is seen primarily in small breed dogs and causes pain and limited mobility of the stifle joint. This study aimed to investigate the relationship among patellar luxation, skin extension, and skin collagen fibril diameter. Nine dogs with patellar luxation and five clinically normal dogs were enrolled in the study. We measured the skin extension and investigated the ultrastructure of the skin and patellofemoral ligament by histopathology and transmission electron microscopy...
July 6, 2018: Journal of Veterinary Medical Science
Pierrick Henneton, Anne Legrand, Cecilia Giunta, Michael Frank
Pathogenic variants in the lysyl-hydroxylase-1 gene (PLOD1) are responsible for the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS). The disease is classically responsible for severe hypotonia at birth, progressive kyphoscoliosis, generalised joint hypermobility and scleral fragility. Arterial fragility is an important feature of the disease, but its characterisation remains limited. We report the clinical history of a 41-year-old woman who presented repeated arterial accidents, which occurred in previously normal medium size arteries within a limited time span of 2 years...
July 6, 2018: BMJ Case Reports
Luis Gorospe Sarasúa, Gemma María Muñoz-Molina, Paola Arrieta
No abstract text is available yet for this article.
July 3, 2018: Archivos de Bronconeumología
Anwar Baban, Marco Castori
Joint hypermobility (JH) is the hallmark of many hereditary soft connective tissue disorders, including Ehlers-Danlos syndromes and related disorders, disorders of the TGFβ-pathway, lateral meningocele syndrome, arterial tortuosity syndrome, and cutis laxa syndromes. Contemporary practice separates individuals with isolated, non-syndromic JH from patients with Mendelian syndromes and those with hypermobility spectrum disorders. The latter is a new nosologic entity grouping together individuals with JH and related musculoskeletal manifestations, but lacking inclusion criteria for well-defined and/or single-gene disorders...
July 2018: Expert Review of Clinical Pharmacology
M Kato, S Shinzaki, Y Tsujii, Y Hayashi, H Iijima, Y Maegawa, T Yakushijin, T Takehara
No abstract text is available yet for this article.
July 1, 2018: Journal of Gastroenterology and Hepatology
Bruno Corrado, Gianluca Ciardi
[Purpose] The aim of the study was to conduct a systematic review about rehabilitation treatment of hypermobile Ehlers-Danlos syndrome, according to Evidence Based Medicine. [Methods] A systematic search has been conducted in following database: PubMed, PEDro, Cochrane, EDS Base Index, TRIP and CINHAL; no time restrictions were adopted. PICO method was employed to formulate the clinical query. Hypermobile Ehlers-Danlos syndrome and physiotherapy were the main keywords of the research. [Results] 1,869 articles emerged from the primary search...
June 2018: Journal of Physical Therapy Science
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