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https://www.readbyqxmd.com/read/28651995/-placement-of-tension-free-vaginal-tape-in-women-with-stress-urinary-incontinence-long-term-functional-outcomes-in-a-prospective-series
#1
Q Manach, M Bouquot, M Rouprêt, V Ambrogi, F Richard, M O Bitker, E Chartier-Kastler, V Phé
PURPOSE: To evaluate the long-term functional outcomes after retropubic tension-free vaginal tape (TVT) placement to treat female stress urinary incontinence (SUI). METHODS: From September 1998 to September 2000, we prospectively enrolled all consecutive women in our center suffering SUI caused by urethral hypermobility. All women had a retropubic TVT inserted by the same surgeon. Patients were evaluated at 1, 3, 6 and 12 months postoperatively, and annually thereafter...
June 23, 2017: Progrès en Urologie
https://www.readbyqxmd.com/read/28642694/ehlers-danlos-syndrome-hypermobility-type-impact-of-somatosensory-orthoses-on-postural-control-a-pilot-study
#2
Emma G Dupuy, Pascale Leconte, Elodie Vlamynck, Audrey Sultan, Christophe Chesneau, Pierre Denise, Stéphane Besnard, Boris Bienvenu, Leslie M Decker
Elhers-Danlos syndrome (EDS) is the clinical manifestation of connective tissue disorders, and comprises several clinical forms with no specific symptoms and selective medical examinations which result in a delay in diagnosis of about 10 years. The EDS hypermobility type (hEDS) is characterized by generalized joint hypermobility, variable skin hyperextensibility and impaired proprioception. Since somatosensory processing and multisensory integration are crucial for both perception and action, we put forth the hypothesis that somatosensory deficits in hEDS patients may lead, among other clinical symptoms, to misperception of verticality and postural instability...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28627718/motor-performance-in-children-with-noonan-syndrome
#3
Ellen A Croonen, Marlou Essink, Ineke van der Burgt, Jos M Draaisma, Cees Noordam, Maria W G Nijhuis-van der Sanden
Although problems with motor performance in daily life are frequently mentioned in Noonan syndrome, the motor performance profile has never been systematically investigated. The aim of this study was to examine whether a specific profile in motor performance in children with Noonan syndrome was seen using valid norm-referenced tests. The study assessed motor performance in 19 children with Noonan syndrome (12 females, mean age 9 years 4 months, range 6 years 1 month to 11 years and 11 months, SDS 1 year and 11 months)...
June 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28617417/a-cohort-of-17-patients-with-kyphoscoliotic-ehlers-danlos-syndrome-caused-by-biallelic-mutations-in-fkbp14-expansion-of-the-clinical-and-mutational-spectrum-and-description-of-the-natural-history
#4
Cecilia Giunta, Matthias Baumann, Christine Fauth, Uschi Lindert, Ebtesam M Abdalla, Angela F Brady, James Collins, Jahannaz Dastgir, Sandra Donkervoort, Neeti Ghali, Diana S Johnson, Ariana Kariminejad, Johannes Koch, Marius Kraenzlin, Nayana Lahiri, Bernarda Lozic, Adnan Y Manzur, Jenny E V Morton, Jacek Pilch, Rebecca C Pollitt, Gudrun Schreiber, Nora L Shannon, Glenda Sobey, Anthony Vandersteen, Fleur S van Dijk, Martina Witsch-Baumgartner, Johannes Zschocke, F Michael Pope, Carsten G Bönnemann, Marianne Rohrbach
PurposeIn 2012 we reported in six individuals a clinical condition almost indistinguishable from PLOD1-kyphoscoliotic Ehlers-Danlos syndrome (PLOD1-kEDS), caused by biallelic mutations in FKBP14, and characterized by progressive kyphoscoliosis, myopathy, and hearing loss in addition to connective tissue abnormalities such as joint hypermobility and hyperelastic skin. FKBP14 is an ER-resident protein belonging to the family of FK506-binding peptidyl-prolyl cis-trans isomerases (PPIases); it catalyzes the folding of type III collagen and interacts with type III, type VI, and type X collagens...
June 15, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28605279/the-effect-of-shoulder-muscle-fatigue-on-acromiohumeral-distance-and-scapular-dyskinesis-in-women-with-generalized-joint-hypermobility
#5
Razie J Alibazi, Afsun Nodehi Moghadam, Ann M Cools, Enayatollah Bakhshi, Alireza Aziz Ahari
Muscle fatigue is considered to be one cause of shoulder pain, and subjects with generalized joint hypermobility (GJH) are affected more by shoulder pain. The purpose of this study was to examine the effects of muscle fatigue on acromiohumeral distance (AHD) and scapular dyskinesis in women with GJH. Thirty-six asymptomatic participants were assigned to either a GJH (n=20) or control group (n=16) using the Beighton scale. Before and after elevation fatigue trials, AHD was measured with ultrasonography at rest and when the arm was in 90° active elevation...
June 12, 2017: Journal of Applied Biomechanics
https://www.readbyqxmd.com/read/28599980/generalized-hypermobility-knee-hyperextension-and-outcomes-after-anterior-cruciate-ligament-reconstruction-prospective-case-control-study-with-mean-6%C3%A2-years-follow-up
#6
Christopher M Larson, Asheesh Bedi, Mark E Dietrich, Jennifer C Swaringen, Corey A Wulf, David M Rowley, M Russell Giveans
PURPOSE: To determine whether generalized hypermobility and contralateral knee hyperextension affect failure rates and patient-related outcomes after anterior cruciate ligament reconstruction (ACLR). METHODS: A total of 226 consecutive patients presenting with acute ACL tears were prospectively evaluated for generalized hypermobility by a modified Beighton criteria. Minimum 2-year follow-up was achieved for 183 knees (81%). Patients underwent ACLR with either bone-patellar-tendon (BPTB) autograft (n = 46), quadrupled hamstring (HT) autograft (n = 85), or allograft tissue (n = 52)...
June 6, 2017: Arthroscopy: the Journal of Arthroscopic & related Surgery
https://www.readbyqxmd.com/read/28568908/a-magnetic-resonance-imaging-study-of-gastric-motor-function-in-patients-with-dyspepsia-associated-with-ehlers-danlos-syndrome-hypermobility-type-a-feasibility-study
#7
A Menys, D Keszthelyi, H Fitzke, A Fikree, D Atkinson, Q Aziz, S A Taylor
BACKGROUND: The clinical use of Magnetic Resonance Imaging (MRI) for investigating gastric motor function in dyspepsia is limited, largely due to protocol complexity, cost and limited availability. In this study, we explore the feasibility of a sub 60-minute protocol using a water challenge to assess gastric emptying, motility and accommodation in a cohort of Ehlers-Danlos Syndrome-Hypermobility type (EDS-HT) patients presenting with dyspepsia. METHODS: Nine EDS-HT patients (mean age 33, range: 26-50 all female) with a history of dyspepsia were recruited together with nine-matched controls...
May 31, 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/28559755/multimodal-chiropractic-care-for-pain-and-disability-in-a-patient-diagnosed-with-ehlers-danlos-syndrome-hypermobility-type-a-case-report
#8
Richard G Strunk
OBJECTIVE: The purpose of this article is to describe the clinical response to multimodal chiropractic treatment of a patient diagnosed with Ehlers-Danlos syndrome, hypermobility type (EDS-HT), and chronic pain. CLINICAL FEATURES: A 22-year-old woman presented with severe chronic neck and low back pain, headaches, and bilateral hand pain and stiffness. In addition to these pain complaints, the patient had a family history of EDS, weekly or daily recurring joint dislocations, and upper and lower extremity joint hypermobility...
June 2017: Journal of Chiropractic Medicine
https://www.readbyqxmd.com/read/28558742/generalised-joint-hypermobility-and-shoulder-joint-hypermobility-risk-of-upper-body-musculoskeletal-symptoms-and-reduced-quality-of-life-in-the-general-population
#9
Birgit Juul-Kristensen, Lasse Østengaard, Sebrina Hansen, Eleanor Boyle, Tina Junge, Lise Hestbaek
BACKGROUND: Generalised Joint Hypermobility (GJH) is a hereditary condition with an ability to exceed the joints beyond the normal range. The prevalence of GJH in the adult population and its impact on upper body musculoskeletal health and quality of life has mostly been studied in selected populations. The aims of this study were therefore, firstly to study the prevalence of GJH and GJH including shoulder hypermobility (GJHS), in the general Danish adult population; secondly to test the associations between GJH or GJHS and upper body musculoskeletal symptoms and health-related quality of life (HRQoL)...
May 30, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28556438/anterior-compartment-descent-a-new-measure-in-the-assessment-of-urethral-hypermobility-in-women-with-urinary-incontinence
#10
Tamara Serdinšek, Igor But
OBJECTIVES: To introduce a new, simple, non-invasive test to quantify urethral hypermobility. METHODS: We reviewed data of women with urinary incontinence who were examined at the Department for General Gynaecology and Urogynaecology, Clinic for Gynaecology and Perinatology, Maribor, Slovenia, between October 2010 and March 2014. Patients' age, diagnosis, results of the Q-tip test and Pelvic Organ Prolapse Quantification measurements were collected. In addition, a new parameter was defined as anterior compartment descent, a midline distance between the external urethral meatus and maximum descent of the anterior vaginal wall when performed the Valsalva maneuver...
May 26, 2017: International Journal of Urology: Official Journal of the Japanese Urological Association
https://www.readbyqxmd.com/read/28549187/generalized-joint-hypermobility-a-timely-population-study-and-proposal-for-beighton-cut-offs-beighton-cut-offs-for-generalized-joint-hypermobility
#11
https://www.readbyqxmd.com/read/28547000/whole-exome-sequencing-of-a-patient-with-suspected-mitochondrial-myopathy-reveals-novel-compound-heterozygous-variants-in-ryr1
#12
Patrick R Blackburn, Duygu Selcen, Jennifer M Gass, Jessica L Jackson, Sarah Macklin, Margot A Cousin, Nicole J Boczek, Eric W Klee, Elliot L Dimberg, Kathleen D Kennelly, Paldeep S Atwal
BACKGROUND: Pathogenic variants in ryanodine receptor 1 (RYR1, MIM# 180901) are the cause of congenital myopathy with fiber-type disproportion, malignant hyperthermia susceptibility type 1, central core disease of muscle, multiminicore disease and other congenital myopathies. METHODS: We present a patient with global developmental delay, hypotonia, myopathy, joint hypermobility, and multiple other systemic complaints that were noted early in life. Later she was found to have multiple bone deformities involving her spine, with severe scoliosis that was corrected surgically...
May 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28543732/joint-hypermobility-is-also-associated-with-anxiety-disorders-in-the-elderly-population
#13
Andrea Bulbena-Cabré, Conxita Rojo, Guillem Pailhez, Emma Buron Maso, Luis Miguel Martín-Lopez, Antonio Bulbena
BACKGROUND: Anxiety disorders (AD) are very prevalent in the elderly, tend to compromise quality of life, and generate substantial costs. Considering that the prevention and early detection of anxiety may be relevant to increase health gains in older adults, it would be of great interest to identify whether the joint hypermobility syndrome (JHS) is also related to anxiety disorders in this age range. METHODS: Cross-sectional data was collected in a sample of 108 subjects in a rural town in Spain...
May 23, 2017: International Journal of Geriatric Psychiatry
https://www.readbyqxmd.com/read/28535850/eyes-closed-single-limb-balance-is-not-related-to-hypermobility-status-in-dancers
#14
Tiffany A Marulli, Lindsay E Harmon-Matthews, J Hope Davis-Coen, Nienke W Willigenburg, Timothy E Hewett
Hypermobility may be associated with decreased lower extremity proprioception, which in turn may increase injury risk. The prevalence of hypermobility in dancers varies across studies, but joint hypermobility appears to be more common in dancers than in the general population. The purpose of this study was to determine how hypermobility affects eyes-closed single-limb balance as an indirect measure of proprioception in dancers. The secondary aim was to compare hypermobility and balance across dancer affiliation groups...
June 15, 2017: Journal of Dance Medicine & Science
https://www.readbyqxmd.com/read/28529667/motor-problems-in-children-with-neurofibromatosis-type-1
#15
André B Rietman, Rianne Oostenbrink, Sanne Bongers, Eddy Gaukema, Sandra van Abeelen, Jos G Hendriksen, Caspar W N Looman, Pieter F A de Nijs, Marie-Claire de Wit
BACKGROUND: Children with the neurogenetic disorder neurofibromatosis type 1 (NF1) often have problems with learning and behaviour. In both parent reports and neuropsychological assessment, motor problems are reported in approximately one third to one half of the children with NF1. Studies using broad motor performance test batteries with relatively large groups of children with NF1 are limited. The aim of this cross-sectional observational study was to describe the severity of motor problems in children with NF1 and to explore the predictive value of demographics, intelligence, and behavioural problems...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28525488/artificial-disk-replacement-combined-with-fusion-versus-2-level-fusion-in-cervical-2-level-disk-disease-with-a-5-year-follow-up
#16
Gyu Yeul Ji, Chang Hyun Oh, Dong Ah Shin, Yoon Ha, Seong Yi, Keung Nyun Kim, Hyun Cheol Shin, Do Heum Yoon
STUDY DESIGN: Prospective study. OBJECTIVE: The purpose of this study was to compare the long-term clinical and radiologic outcomes of hybrid surgery (HS) and 2-level anterior cervical discectomy and fusion (2-ACDF) in patients with 2-level cervical disk disease. SUMMARY OF BACKGROUND DATA: In a previous study with a 2-year follow-up, HS was shown to be superior to 2-ACDF, with a better Neck Disability Index (NDI) score, less postoperative neck pain, faster C2-C7 range of motion (ROM) recovery, and less adjacent ROM increase...
June 2017: Clinical Spine Surgery
https://www.readbyqxmd.com/read/28503481/dental-management-of-patients-with-x-linked-hypophosphatemia
#17
Bin-Na Lee, Hye-Yoon Jung, Hoon-Sang Chang, Yun-Chan Hwang, Won-Mann Oh
X-linked hypophosphatemia (XLH) is a hereditary metabolic disease caused by the loss of phosphate through the renal tubules into the urine, and an associated decrease in serum calcium and potassium phosphate. Its dental features include spontaneous dental abscesses that occur in the absence of trauma or dental caries. The aim of this case report was to describe the dental problems of XLH patients and to evaluate limitations in their treatment. A 14 year old male and a 38 year old female with XLH were referred to the Department of Conservative Dentistry for endodontic treatment...
May 2017: Restorative Dentistry & Endodontics
https://www.readbyqxmd.com/read/28485813/spectrum-of-mucocutaneous-ocular-and-facial-features-and-delineation-of-novel-presentations-in-62-classical-ehlers-danlos-syndrome-patients
#18
Marina Colombi, Chiara Dordoni, Marina Venturini, Claudia Ciaccio, Silvia Morlino, Nicola Chiarelli, Arianna Zanca, Piergiacomo Calzavara-Pinton, Nicoletta Zoppi, Marco Castori, Marco Ritelli
Classical Ehlers-Danlos syndrome (cEDS) is characterized by marked cutaneous involvement that is defined by many criteria of the Villefranche nosology and the 2017 revision. However, the diagnostic flow-chart that prompts molecular testing is still based on experts' opinion rather than systematic published data. Here we report on 62 molecularly characterized cEDS patients with focus on skin, mucosae, face, and joint hypermobility. The major and minor Villefranche criteria, additional 11 mucocutaneous signs and 15 facial dysmorphic traits were ascertained and feature rates compared by sex and age...
May 9, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28484680/superior-semicircular-canal-dehiscence-in-a-patient-with-ehlers-danlos-syndrome-a-case-report
#19
Lawrance K Chung, Carlito Lagman, Daniel T Nagasawa, Quinton Gopen, Isaac Yang
Superior semicircular canal dehiscence (SSCD) is a bony defect in the middle cranial fossa floor that results in an abnormal connection between the inner ear and cranial vault. Although the etiology of SSCD remains unclear, an inappropriately thin or fragile temporal bone likely predisposes an individual towards developing SSCD. Ehlers-Danlos syndrome (EDS) constitutes a group of genetic connective tissue disorders caused by a defect in the production, processing, or structure of collagen, or its associated proteins...
April 6, 2017: Curēus
https://www.readbyqxmd.com/read/28482708/features-that-exacerbate-fatigue-severity-in-joint-hypermobility-syndrome-ehlers-danlos-syndrome-hypermobility-type
#20
Anne Maree Krahe, Roger David Adams, Leslie Lorenda Nicholson
AIM: To assess the prevalence, severity and impact of fatigue on individuals with joint hypermobility syndrome (JHS)/Ehlers-Danlos syndrome - hypermobility type (EDS-HT) and establish potential determinants of fatigue severity in this population. METHODS: Questionnaires on symptoms and signs related to fatigue, quality of life, mental health, physical activity participation and sleep quality were completed by people with JHS/EDS-HT recruited through two social media sites...
May 9, 2017: Disability and Rehabilitation
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