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Joint hypermobility syndrome

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https://www.readbyqxmd.com/read/29242787/foot-deformities-in-hajdu-cheney-syndrome-a-rare-case-report-and-review-of-the-literature
#1
Ashish B Shah, Breann K Tisano, Osama Elattar, Jackson Rucker Staggers, Sameer Naranje
Introduction: Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant disease characterized by acroosteolysis, wormian skull bones with persistent skull sutures, premature loss of teeth, micrognathia, short stature, hypermobility of the joints, neurologic manifestations such as basilar invagination with subsequent paresthesia, hearing loss, and speech alterations, and osteoporosis with tendency to pathologic fractures of long bones and vertebrae as well as painful hands and feet. Very few cases have been earlier reported in the literature...
September 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/29222399/pediatric-disorders-of-orthostatic-intolerance
#2
REVIEW
Julian M Stewart, Jeffrey R Boris, Gisela Chelimsky, Phillip R Fischer, John E Fortunato, Blair P Grubb, Geoffrey L Heyer, Imad T Jarjour, Marvin S Medow, Mohammed T Numan, Paolo T Pianosi, Wolfgang Singer, Sally Tarbell, Thomas C Chelimsky
Orthostatic intolerance (OI), having difficulty tolerating an upright posture because of symptoms or signs that abate when returned to supine, is common in pediatrics. For example, ∼40% of people faint during their lives, half of whom faint during adolescence, and the peak age for first faint is 15 years. Because of this, we describe the most common forms of OI in pediatrics and distinguish between chronic and acute OI. These common forms of OI include initial orthostatic hypotension (which is a frequently seen benign condition in youngsters), true orthostatic hypotension (both neurogenic and nonneurogenic), vasovagal syncope, and postural tachycardia syndrome...
December 8, 2017: Pediatrics
https://www.readbyqxmd.com/read/29172038/musculoskeletal-pain-and-musculoskeletal-syndromes-in-adolescents-are-related-to-electronic-devices
#3
Lígia Bruni Queiroz, Benito Lourenço, Luiz Eduardo Vargas Silva, Daniela Mencaroni Rodrigues Lourenço, Clovis Artur Silva
OBJECTIVE: To evaluate television and simultaneous electronic devices use in adolescents with musculoskeletal pain and musculoskeletal pain syndromes. METHODS: A cross-sectional study was performed in 299 healthy adolescents of a private school. All students completed a self-administered questionnaire, including: demographic data, physical activities, musculoskeletal pain symptoms, and use of simultaneous television/electronic devices (computer, internet, electronic games, and cell phones)...
November 21, 2017: Jornal de Pediatria
https://www.readbyqxmd.com/read/29156379/evaluating-the-immediate-effects-of-wearing-foot-orthotics-in-children-with-joint-hypermobility-syndrome-jhs-by-analysis-of-temperospatial-parameters-of-gait-and-dynamic-balance-a-preliminary-study
#4
P McDermott, E Wolfe, C Lowry, K Robinson, H P French
Joint Hypermobility Syndrome (JHS) in children, presents with increased joint range of motion and can lead to altered gait strategies and reduced dynamic balance. Despite limited evidence foot orthoses are sometimes prescribed to patients with JHS with the aim to improve the stability of their gait pattern and theoretically reduce associated symptoms of fatigue and joint pain. The purpose of this study was therefore to analyse the immediate effects of 'off the shelf' orthoses on temporospatial parameters of gait and dynamic balance in this cohort...
November 15, 2017: Gait & Posture
https://www.readbyqxmd.com/read/29149870/first-case-report-of-cohen-syndrome-in-the-tunisian-population-caused-by-vps13b-mutations
#5
Imen Rejeb, Houweyda Jilani, Yasmina Elaribi, Syrine Hizem, Lamia Hila, Julia Lauer Zillahrdt, Jamel Chelly, Lamia Benjemaa
BACKGROUND: Cohen syndrome is a rare autosomal recessive developmental disorder that comprises variable clinical features counting developmental delay, pigmentary retinopathy, myopia, acquired microcephaly, truncal obesity, joint hypermobility, friendly disposition and intermittent neutropenia. VPS13B (vacuolar protein sorting 13, yeast, homologue of B) gene is the only gene responsible for Cohen Syndrome, causative mutations include nonsense, missense, indel and splice-site variants...
November 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29125009/exercise-beliefs-and-behaviours-of-individuals-with-joint-hypermobility-syndrome-ehlers-danlos-syndrome-hypermobility-type
#6
Jane V Simmonds, Anthony Herbland, Alan Hakim, Nelly Ninis, William Lever, Qasim Aziz, Mindy Cairns
PURPOSE: To explore exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type and to explore patient experiences of physiotherapy. METHODS: A cross sectional questionnaire survey design was used to collect quantitative and qualitative data from adult members of the Hypermobility Syndromes Association and Ehlers-Danlos Syndrome Support UK. Descriptive and inferential statistics were used to analyse the data...
November 10, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/29106635/the-multisystemic-nature-and-natural-history-of-joint-hypermobility-syndrome-and-ehlers-danlos-syndrome-in-children-new-research-data-conflict-with-widely-held-views
#7
https://www.readbyqxmd.com/read/29041819/subjective-health-complaints-and-illness-perception-amongst-adults-with-joint-hypermobility-syndrome-ehlers-danlos-syndrome-hypermobilitytype-a-cross-sectional-study
#8
Lena Hope, Birgit Juul-Kristensen, Helene Løvaas, Camilla Løvvik, Silje Maeland
OBJECTIVE: To investigate the prevalence and severity of subjective health complaints and describe illness perception in a population of Joint Hypermobility Syndrome or Ehlers-Danlos Syndrome-Hypermobile Type. METHOD: This study was a postal survey with a questionnaire battery on demographic data, subjective health complaints inventory, and illness perception. A total of 110 individuals diagnosed with Joint Hypermobility Syndrome or Ehlers-Danlos Syndrome-Hypermobile Type from two specialized hospitals in Norway were offered participation...
October 17, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/29032848/-ehlers-danlos-syndromes
#9
D-P Germain
Ehlers-Danlos syndromes (EDS) are a heterogeneous group of inheritable connective tissue disorders characterized by skin hyperextensibility, joint hypermobility and cutaneous fragility with delayed wound healing. Over and above these common features, they differ in the presence or absence of various organ and tissue abnormalities, and differences in genetic causal mechanisms and degree of severity. They are complex and multisystem diseases, with the majority being highly disabling because of major joint problems and neurosensory deficiencies, and in some cases, they may be life-threatening due to associated complications, especially vascular disorders...
December 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/29024828/a-classical-ehlers-danlos-syndrome-family-with-incomplete-presentation-diagnosed-by-molecular-testing
#10
Marina Colombi, Chiara Dordoni, Valeria Cinquina, Marina Venturini, Marco Ritelli
The 2017 EDS revised nosology indicates that minimal criteria suggestive for classical Ehlers-Danlos syndrome (cEDS) are skin hyperextensibility plus atrophic scarring together with either generalized joint hypermobility (gJHM) and/or at least three minor criteria that include cutaneous features and gJHM complications. Confirmatory molecular testing is obligatory to reach a final diagnosis. Although the large majority of the patients presents with these clinical features, some do not and might remain undiagnosed or misdiagnosed...
October 9, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29017019/results-of-combined-single-session-arthrocentesis-and-dextrose-prolotherapy-for-symptomatic-temporomandibular-joint-syndrome-a-case-series
#11
Burak Cezairli, Efe Can Sivrikaya, Mehmet Melih Omezli, Ferhat Ayranci, Neslihan Seyhan Cezairli
OBJECTIVE: Arthrocentesis and prolotherapy are nonsurgical treatments for temporomandibular joint (TMJ) diseases. This study aimed to evaluate the treatment of hypermobility, pain, and displacement of the TMJ by consecutively performing arthrocentesis and prolotherapy in the same session. MATERIALS AND METHODS: In this study, 10 adults with disc displacement and painful, hypermobile TMJ were selected. Arthrocentesis and prolotherapy were consecutively performed using a 30% dextrose solution that was simultaneously injected into five areas: posterior disc attachment, superior joint space, superior and inferior capsular attachments, and stylomandibular ligament...
October 2017: Journal of Alternative and Complementary Medicine: Research on Paradigm, Practice, and Policy
https://www.readbyqxmd.com/read/28971234/a-novel-dominant-col11a1-mutation-in-a-child-with-stickler-syndrome-type-ii-is-associated-with-recurrent-fractures
#12
M G Vogiatzi, D Li, L Tian, J P Garifallou, C E Kim, H Hakonarson, M A Levine
This case describes a child with blindness, recurrent low-impact fractures, low bone mass, and intermittent joint pain who was found to have a novel missense mutation in COL11A1, consistent with Stickler syndrome type II. The case illustrates the phenotypic variability of the syndrome, which may include increased fragility in childhood. INTRODUCTION: Stickler syndrome type II is an autosomal dominant disorder caused by mutations in the gene that encodes the type XI collagen chain α1 (COL11A1)...
October 3, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28967365/hypermobility-the-ehlers-danlos-syndromes-and-chronic-pain
#13
REVIEW
Delfien Syx, Inge De Wandele, Lies Rombaut, Fransiska Malfait
Chronic widespread pain is a common complaint among individuals affected by generalised joint hypermobility. In the absence of other conditions that cause chronic pain, these individuals are usually diagnosed with joint hypermobility syndrome (JHS). JHS is a multifactorial trait with a strong genetic basis, but no specific genetic markers. Clinical overlap of JHS is seen with heritable connective tissue disorders, particularly with the Ehlers-Danlos syndrome, hypermobile type (hEDS). The Ehlers-Danlos syndromes (EDS) comprise a heterogeneous group of rare monogenic conditions that are characterised by joint hypermobility, skin and vascular fragility and generalised connective tissue friability, and are caused by genetic defects in an array of extracellular matrix genes...
September 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28959454/generalised-joint-hypermobility-and-neurodevelopmental-traits-in-a-non-clinical-adult-population
#14
Martin Glans, Susanne Bejerot, Mats B Humble
BACKGROUND: Generalised joint hypermobility (GJH) is reportedly overrepresented among clinical cases of attention deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD) and developmental coordination disorder (DCD). It is unknown if these associations are dimensional and, therefore, also relevant among non-clinical populations. AIMS: To investigate if GJH correlates with sub-syndromal neurodevelopmental symptoms in a normal population. METHOD: Hakim-Grahame's 5-part questionnaire (5PQ) on GJH, neuropsychiatric screening scales measuring ADHD and ASD traits, and a DCD-related question concerning clumsiness were distributed to a non-clinical, adult, Swedish population (n=1039)...
September 2017: BJPsych Open
https://www.readbyqxmd.com/read/28933136/coexistence-of-spondyloarthritis-and-joint-hypermobility-syndrome-rare-or-unknown-association
#15
J B Pinto Carneiro, T Pinto de Souza, T M L Antunes de Oliveira, S L Euzébio Ribeiro
We report two cases of siblings presenting coexisting non-radiographic axial spondyloartrhritis and joint hypermobility syndrome, complaining of back pain with morning stiffness, enthesitis, peripheral arthralgia, high erythrocyte sedimentation rate and C-reactive protein level and positive HLA-B27. The association of these two conditions is rare, but especially interesting in view of their contrasting features, one causing axial skeleton stiffness, the other a wider range of peripheral joint movements. Coexistence of these two opposite disorders causes confusion in diagnosis and management, resulting in lower quality of life for patients, as they are in pain from the early stages...
September 21, 2017: Reumatismo
https://www.readbyqxmd.com/read/28923431/both-anxiety-and-joint-laxity-determine-the-olfactory-features-in-panic-disorder
#16
Emma Burón, Antonio Bulbena, Andrea Bulbena-Cabré, Sílvia Rosado, Guillem Pailhez
Previous research showed a high sensitivity in sensorial modalities in panic disorder (PD). This disorder has been consistently associated to the joint hypermobility syndrome (JHS). In non-clinical samples, this collagen alteration has been also related to an enhanced sensitivity in some sensorial modalities. The main aim of this study is to explore the olfactory functioning in PD in relation to JHS. Sixty patients with PD and sixty healthy controls performed the Sniffin' Sticks Test (SST) (threshold subtest), and completed the Affective Impact of Odors scale (AIO), the Relational Scale of Olfaction (EROL), and the Odor Awareness Scale (OAS)...
September 11, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28906340/contemporary-approach-to-joint-hypermobility-and-related-disorders
#17
Marco Castori, Alan Hakim
PURPOSE OF REVIEW: Joint hypermobility is a common, although largely ignored physical sign. Joint hypermobility is often asymptomatic but may be a feature of an underlying genetic disorder with systemic manifestations. The present article presents a comprehensive approach to considering joint hypermobility and clinically related issues in children and adults. RECENT FINDINGS: Ehlers-Danlos syndrome (EDS) is an umbrella term for various Mendelian connective tissue disorders sharing joint hypermobility, skin hyperextensibility, and tissue fragility...
December 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28881227/test-retest-reliability-and-smallest-detectable-change-of-the-bristol-impact-of-hypermobility-bioh-questionnaire
#18
S Palmer, S Manns, F Cramp, R Lewis, E M Clark
OBJECTIVE: The Bristol Impact of Hypermobility (BIoH) questionnaire is a patient-reported outcome measure developed in conjunction with adults with Joint Hypermobility Syndrome (JHS). It has demonstrated strong concurrent validity with the Short Form-36 (SF-36) physical component score but other psychometric properties have yet to be established. This study aimed to determine its test-retest reliability and smallest detectable change (SDC). DESIGN: A test-retest reliability study...
August 24, 2017: Musculoskeletal Science & Practice
https://www.readbyqxmd.com/read/28870141/physical-and-psychosocial-characteristics-of-current-child-dancers-and-nondancers-with-systemic-joint-hypermobility-a-descriptive-analysis
#19
Leslie L Nicholson, Roger D Adams, Louise Tofts, Verity Pacey
Study Design Cross-sectional study. Background The effect of current participation in dance training on joint pain and instability, fatigue, and quality of life is unknown. Objectives To examine differences in joint pain, instability, gross motor skills, nonmusculoskeletal systemic manifestations, health-related quality of life (HRQoL), and fatigue between children with joint hypermobility syndrome/Ehlers-Danlos syndrome-hypermobility type (JHS/EDS-HT) who currently undertake formal dance training and those who do not...
October 2017: Journal of Orthopaedic and Sports Physical Therapy
https://www.readbyqxmd.com/read/28866967/a-humanisation-approach-for-the-management-of-joint-hypermobility-syndrome-ehlers-danlos-syndrome-hypermobility-type-jhs-eds-ht
#20
Carol J Clark, Isobel Knight
Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobility Type (JHS/EDS-HT) is a complex and multisystemic condition which significantly impacts on a person's health and well-being and is challenging for health professionals (HPs) to manage. People with JHS/EDS-HT and HPs recognise the individual nature and the complexities of the condition. There is a requirement to understand the condition within the context of the individual human dimensions of illness and healing. The aim of this paper is to explore the management of this condition using a theoretical model referred to as the Humanisation Framework...
December 2017: International Journal of Qualitative Studies on Health and Well-being
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