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Thomas Gaisl, Cecilia Giunta, Daniel J Bratton, Kate Sutherland, Christian Schlatzer, Noriane Sievi, Daniel Franzen, Peter A Cistulli, Marianne Rohrbach, Malcolm Kohler
BACKGROUND: Patients with the connective tissue disorder Ehlers-Danlos syndrome (EDS) often suffer from fatigue, excessive daytime sleepiness and impaired quality of life. Obstructive sleep apnoea (OSA) may be an underlying cause for these symptoms but its prevalence in this population is unclear. METHODS: In this prospective parallel-cohort study, we included 100 adult patients with EDS (46% hypermobile-type, 35% classical-type and 19% other), which were one-to-one matched to 100 healthy adult controls according to sex, age, weight and height...
January 10, 2017: Thorax
Vanessa Cecchin, Francesca Sperotto, Marta Balzarin, Fabio Vittadello, Giorgia Martini, Francesco Zulian
AIM: Oligoarticular onset juvenile idiopathic arthritis (oJIA) is characterised by a prevalent lower limb involvement, antinuclear antibodies (ANA) positivity and high risk of anterior uveitis. As we observed that oJIA patients frequently present with joint hypermobility (JH), we investigated whether there was a relationship between oJIA and JH. METHODS: Our series consisted of children with oJIA, as defined by the International League of Associations for Rheumatology criteria, for whom complete clinical data of at least 2 years' duration were available...
January 4, 2017: Journal of Paediatrics and Child Health
Isis M Sánchez, Sadja Gaud-Quintana, Jacob K Stern
Lip repositioning surgery to address excessive gingival display induced by different etiologies has received major attention recently. Several techniques and variations have been reported, including myotomy or repositioning of the levator labii superioris muscle, Le Fort impaction, maxillary gingivectomies, botulinum toxin injections, and lip stabilization. This study reports a case of excessive gingival display treated by a modified combined approach. A 25-year-old woman with a 4- to 8-mm gingival display when smiling caused by a combination of short clinical crowns induced by an altered passive eruption and hypermobility of the upper lip underwent a staged esthetic crown-lengthening procedure followed by a modified lip repositioning technique...
January 2017: International Journal of Periodontics & Restorative Dentistry
Serhat Imamoglu, Vedat Kaya, Ebru Yalin Imamoglu, Kemran Gok
We aimed to describe congenital keratoglobus with blue sclera in two siblings with overlapping Marshall/Stickler phenotype. Two sisters (ages four and six) with bilateral high astigmatism were evaluated by slit-lamp microscopy. Corneal topography and pachymetry maps were also obtained. Slit-lamp examination revealed that both corneas were globular in shape with peripheral corneal thinning. Pachymetry maps showed diffuse corneal thinning. Two siblings had in common the features of keratoglobus, blue sclera, atypical face, hearing loss, and hypermobile joints...
November 2016: Indian Journal of Ophthalmology
Michael Bickell, Neil Manimala, Justin Parker, Brian Steixner, Lucas Wiegand, Rafael Carrion
INTRODUCTION: Floppy glans syndrome (FGS) is a potential complication of penile prosthesis placement in patients with erectile dysfunction. FGS affects a very small proportion of these patients, and it can manifest in a ventral, dorsal, or lateral droop of a hypermobile glans, which can cause affected patients to complain of painful, unsatisfying, or otherwise difficult attempts at sexual intercourse. Incorrect cylinder sizing can even result in extreme conditions such as flail penis or S-shaped deformity...
April 2016: Sexual Medicine Reviews
Marabelle L Heng, Yaohui K Chua, Hong K Pek, Priathashini Krishnasamy, Pui W Kong
BACKGROUND: First metatarsophalangeal joint (MTPJ) mobility is commonly assessed by its angular displacement (joint angle) or subjectively rated as 'hypermobile', 'normal' or 'stiff' by a clinician. Neither of these methods is ideal because displacement alone does not take into account the force required to displace the joint and subjective evaluation is not always reliable. This study presented a novel method to determine the passive quasi-stiffness of the first MTPJ. The reliability of the proposed method was also assessed...
2016: Journal of Foot and Ankle Research
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
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...
September 13, 2016: Orphanet Journal of Rare Diseases
Rebecca C Pollitt, Vrinda Saraff, Ann Dalton, Emma A Webb, Nick J Shaw, Glenda J Sobey, M Zulf Mughal, Emma Hobson, Farhan Ali, Nicholas J Bishop, Paul Arundel, Wolfgang Högler, Meena Balasubramanian
Osteogenesis Imperfecta (OI) is an inherited bone fragility disorder most commonly associated with autosomal dominant mutations in the type I collagen genes. Autosomal recessive mutations in a number of genes have also been described, including the BMP1 gene that encodes the mammalian Tolloid (mTLD) and its shorter isoform bone morphogenic protein-1 (BMP1). To date, less than 20 individuals with OI have been identified with BMP1 mutations, with skeletal phenotypes ranging from mild to severe and progressively deforming...
August 30, 2016: American Journal of Medical Genetics. Part A
Naveen Garg, Kanwal K Kapur, Anup Ganjoo, Sumit Kaul
We report a case of a pedunculated, hypermobile LV mass, which was evaluated by 2D as well 3D transthoracic echocardiography (TTE). A presumptive diagnosis of cardiac hemangioma was made based on 3D cropped images. This was later confirmed on histopathology as well as histochemical staining.
August 26, 2016: Echocardiography
Philip Y K Pang, Viswa B Nathan
A mobile thrombus in an otherwise normal ascending aorta is rare, but it should be thoroughly searched for in patients with unexplained cerebral or peripheral embolism. We report the case of a 49-year-old man admitted for right lower quadrant abdominal pain secondary to embolic renal infarction. Echocardiography and computed tomography of the chest revealed a 2.5 cm × 1.5 cm hypermobile mass at the distal ascending aorta, which was otherwise normal. No hypercoagulable condition could be identified. The mass was successfully removed with the patient under deep hypothermic circulatory arrest and was confirmed to be a thrombus...
September 2016: Annals of Thoracic Surgery
M C Scheper, V Pacey, L Rombaut, R D Adams, L Tofts, P Calders, L L Nicholson, R H H Engelbert
INTRODUCTION: Lowered pressure pain thresholds have been demonstrated in adults with Ehlers-Danlos Hypermobility type(EDS-HT), however it remains unclear if these findings are also present in children. Therefore, the objectives of the study were to: (1)determine if generalized hyperalgesia is present in Hypermobility syndrome (HMS)/EDS-HT children, (2)explore potential differences in pressure pain thresholds between HMS/EDS-HT children and adults, and (3)determine the discriminative value of generalized hyperalgesia...
August 2, 2016: Arthritis Care & Research
Matthias Stettler, Gere Luder, Stefan Schmid, Christine Mueller Mebes, Ursula Stutz, Hans-Rudolf Ziswiler, Lorenz Radlinger
AIM: Generalized joint hypermobility (GJH) is a frequent entity, which is still not fully understood. Symptoms associated with GJH are musculoskeletal disorders, decreased balance, impaired proprioception and chronic pain. The purpose of this study was to compare the passive anterior tibial translation (TT) in terms of distance and corresponding force between normomobile (NM) and hypermobile (HM) as well as between NM, symptomatic (HM-s) and asymptomatic (HM-as) hypermobile women. METHODS: A total of 195 women, 67 NM and 128 HM, whereof 56 were further classified as HM-s and 47 as HM-as, participated in this study...
July 26, 2016: International Journal of Rheumatic Diseases
Matt Konopinski, Ian Graham, Mark I Johnson, Gareth Jones
BACKGROUND: A recent study demonstrated joint hypermobility increased the incidence of injury in an elite football team utilising a univariate statistical model. OBJECTIVES: To compare injury incidence between hypermobile and non-hypermobile elite football players incorporating a multi-site design and multivariate inferential statistics. METHODS: 80 players comprising 3 English Championship football teams were followed prospectively during the 2012-2013 season...
September 2016: Physical Therapy in Sport
L H Brunt, R E H Skinner, K A Roddy, N M Araujo, E J Rayfield, C L Hammond
OBJECTIVE: There is increasing evidence that joint shape is a potent predictor of osteoarthritis (OA) risk; yet the cellular events underpinning joint morphogenesis remain unclear. We sought to develop a genetically tractable animal model to study the events controlling joint morphogenesis. DESIGN: Zebrafish larvae were subjected to periods of flaccid paralysis, rigid paralysis or hyperactivity. Immunohistochemistry and transgenic reporters were used to monitor changes to muscle and cartilage...
November 2016: Osteoarthritis and Cartilage
Makoto Suzuki, Asato Imao, George Mogami, Ryotaro Chishima, Takahiro Watanabe, Takaya Yamaguchi, Nobuyuki Morimoto, Tetsuichi Wazawa
Understanding of the hydration state is an important issue in the chemomechanical energetics of versatile biological functions of polymerized actin (F-actin). In this study, hydration-state differences of F-actin by the bound divalent cations are revealed through precision microwave dielectric relaxation (DR) spectroscopy. G- and F-actin in Ca- and Mg-containing buffer solutions exhibit dual hydration components comprising restrained water with DR frequency f2 (<fw: DR frequency of bulk solvent, 17 GHz at 20 °C) and hypermobile water (HMW) with DR frequency f1 (>fw)...
July 21, 2016: Journal of Physical Chemistry. B
William D Harrison, Christopher R Walker
Current practice and controversies in UK bunion surgery are discussed. Patients tend to be offered a distally based metatarsal osteotomy, such as a chevron or scarf osteotomy, for mild to moderate symptomatic bunions. Greater deformities are managed with a more extreme scarf, supplemented with a proximal phalangeal osteotomy. A proximal fusion in the form of the Lapidus-type procedure is still reserved for the most severe, hypermobile, or arthritic cases. Minimally invasive techniques for bunions have failed to disseminate into common UK practice...
June 2016: Foot and Ankle Clinics
Nili Steinberg, Israel Hershkovitz, Aviva Zeev, Bruce Rothschild, Itzhak Siev-Ner
BACKGROUND: Joint range of motion (ROM) refers to the extent of movement of the joint, recorded using standard goniometers. Joint hypermobility (JHM) is a condition in which most of the synovial joints move beyond the "normal" limits. Joint hypermobility is recognized as a feature of heritable disorders of the connective tissue and can be identified mostly by the Beighton scale. Data on the possible relationship between JHM and joint ROM are lacking in the literature. The main objective of the present study was to evaluate the relationship between JHM and joint ROM in the different lower-extremity joints in young dancers...
June 2016: Journal of Clinical Rheumatology: Practical Reports on Rheumatic & Musculoskeletal Diseases
Pranay Jindal, Amitesh Narayan, Sailakshami Ganesan, Joy C MacDermid
BACKGROUND: Generalized joint hypermobility (GJH), in the absence of symptoms, is a common clinical finding. The joint instability present due to excessive musculoskeletal flexibility in hypermobile joints impairs the external force production during muscle contraction. However, whether GJH is associated with muscle weakness is unclear. This study evaluated differences in upper and lower limb muscle strengths among asymptomatic young adults with and without GJH. METHODS: One hundred six young adults (53 hypermobile, i...
2016: BMC Sports Science, Medicine and Rehabilitation
Jin-Ah Park, Jeffrey J Fredberg
Hallmarks of asthma include chronic airway inflammation, progressive airway remodeling, and airway hyperresponsiveness. The initiation and perpetuation of these processes are attributable at least in part to critical events within the airway epithelium, but the underlying mechanisms remain poorly understood. New evidence now suggests that epithelial cells derived from donors without asthma versus donors with asthma, even in the absence of inflammatory cells or mediators, express modes of collective migration that innately differ not only in the amount of migration but also in the kind of migration...
March 2016: Annals of the American Thoracic Society
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