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https://www.readbyqxmd.com/read/28186393/chronic-fatigue-in-ehlers-danlos-syndrome-hypermobile-type
#1
Alan Hakim, Inge De Wandele, Chris O'Callaghan, Alan Pocinki, Peter Rowe
Chronic fatigue is an important contributor to impaired health-related quality of life in Ehlers-Danlos syndrome. There is overlap in the symptoms and findings of EDS and chronic fatigue syndrome. A proportion of those with CFS likely have EDS that has not been identified. The evaluation of chronic fatigue in EDS needs to include a careful clinical examination and laboratory testing to exclude common causes of fatigue including anemia, hypothyroidisim, and chronic infection, as well as dysfunction of major physiological or organ systems...
February 10, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28186381/psychiatric-and-psychological-aspects-in-the-ehlers-danlos-syndromes
#2
Antonio Bulbena, Carolina Baeza-Velasco, Andrea Bulbena-Cabré, Guillem Pailhez, Hugo Critchley, Pradeep Chopra, Nuria Mallorquí-Bagué, Charissa Frank, Stephen Porges
There is increasing amount of evidence pointing toward a high prevalence of psychiatric conditions among individuals with hypermobile type of Ehlers-Danlos syndrome (JHS/hEDS). A literature review confirms a strong association between anxiety disorders and JHSh/hEDS, and there is also limited but growing evidence that JHSh/hEDS is also associated with depression, eating, and neuro-developmental disorders as well as alcohol and tobacco misuse. The underlying mechanisms behind this association include genetic risks, autonomic nervous system dysfunction, increased exteroceptive and interoceptive mechanisms and decreased proprioception...
February 10, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28186368/gastrointestinal-involvement-in-the-ehlers-danlos-syndromes
#3
Asma Fikree, Gisela Chelimsky, Heidi Collins, Katcha Kovacic, Qasim Aziz
Current evidence suggests that an association exists between non-inflammatory hereditary disorders of connective tissue such as the Ehlers-Danlos syndromes (EDS) and gastrointestinal (GI) symptoms. Patients with EDS can present with both structural problems such as hiatus hernias, visceroptosis, rectoceles, and rectal prolapse as well as functional problems such as disordered gut motility. It has recently been demonstrated that patients with hypermobile EDS (hEDS) present with GI symptoms related to the fore and hind-gut and these patients frequently meet the criteria for functional gastrointestinal disorders such as functional dyspepsia and irritable bowel syndrome...
February 10, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28160388/cardiovascular-autonomic-dysfunction-in-ehlers-danlos-syndrome-hypermobile-type
#4
Alan Hakim, Chris O'Callaghan, Inge De Wandele, Lauren Stiles, Alan Pocinki, Peter Rowe
Autonomic dysfunction contributes to health-related impairment of quality of life in the hypermobile type of Ehlers-Danlos syndrome (hEDS). Typical signs and symptoms include tachycardia, hypotension, gastrointestinal dysmotility, and disturbed bladder function and sweating regulation. Cardiovascular autonomic dysfunction may present as Orthostatic Intolerance, Orthostatic Hypotension, Postural Orthostatic Tachycardia Syndrome, or Neurally Mediated Hypotension. The incidence, prevalence, and natural history of these conditions remain unquantified, but observations from specialist clinics suggest they are frequently seen in hEDS...
February 4, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28146401/no-effect-of-generalized-joint-hypermobility-on-injury-risk-in-elite-female-soccer-players
#5
Donna Blokland, Karin M Thijs, Frank J G Backx, Edwin A Goedhart, Bionka M A Huisstede
BACKGROUND: Although it has been suggested that generalized joint hypermobility (GJH) is a risk factor for injury in soccer players, it remains unclear whether this applies to elite female soccer players. PURPOSE: To investigate whether GJH is a risk factor for injury in elite female soccer players. STUDY DESIGN: Cohort study; Level of evidence, 2. METHODS: Elite female soccer players in the Netherlands were screened at the start of the 2014-2015 competitive season...
February 2017: American Journal of Sports Medicine
https://www.readbyqxmd.com/read/28145611/hypermobile-ehlers-danlos-syndrome-a-k-a-ehlers-danlos-syndrome-type-iii-and-ehlers-danlos-syndrome-hypermobility-type-clinical-description-and-natural-history
#6
Brad Tinkle, Marco Castori, Britta Berglund, Helen Cohen, Rodney Grahame, Hanadi Kazkaz, Howard Levy
The hypermobile type of Ehlers-Danlos syndrome (hEDS) is likely the most common hereditary disorder of connective tissue. It has been described largely in those with musculoskeletal complaints including joint hypermobility, joint subluxations/dislocations, as well as skin and soft tissue manifestations. Many patients report activity-related pain and some go on to have daily pain. Two undifferentiated syndromes have been used to describe these manifestations-joint hypermobility syndrome and hEDS. Both are clinical diagnoses in the absence of other causation...
February 1, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28139863/role-of-intrinsic-sphincter-deficiency-with-and-without-urethral-hypomobility-on-the-outcome-of-tape-insertion
#7
Edyta Wlaźlak, Volker Viereck, Jacek Kociszewski, Andrzej Kuszka, Oliver Rautenberg, Claudia Walser, Grzegorz Surkont, Marianne Gamper, Mathias K Fehr
AIMS: Intrinsic sphincter deficiency (ISD) is a known risk factor for therapy failure after tension-free vaginal tape (TVT) insertion. The purpose of this study was to investigate if the severity of ISD alone or other factors such as urethral mobility and tape localization influence outcomes. METHODS: One hundred and nine women with urodynamically determined ISD, a TVT insertion, and a 6-month follow-up visit were included. Urethral length, mobility, and tape localization were evaluated by pelvic floor sonography...
January 31, 2017: Neurourology and Urodynamics
https://www.readbyqxmd.com/read/28129877/hypermobile-joints
#8
Thomas R Welch
No abstract text is available yet for this article.
February 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28073822/obstructive-sleep-apnoea-and-quality-of-life-in-ehlers-danlos-syndrome-a-parallel-cohort-study
#9
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
https://www.readbyqxmd.com/read/28052441/joint-hypermobility-and-oligoarticular-juvenile-idiopathic-arthritis-what-relationship
#10
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
https://www.readbyqxmd.com/read/27977828/modified-lip-repositioning-with-esthetic-crown-lengthening-a-combined-approach-to-treating-excessive-gingival-display
#11
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
https://www.readbyqxmd.com/read/27958215/congenital-keratoglobus-with-blue-sclera-in-two-siblings-with-overlapping-marshall-stickler-phenotype
#12
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
https://www.readbyqxmd.com/read/27872024/floppy-glans-syndrome-pathogenesis-and-treatment
#13
REVIEW
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
https://www.readbyqxmd.com/read/27800027/a-novel-method-of-measuring-passive-quasi-stiffness-in-the-first-metatarsophalangeal-joint
#14
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
https://www.readbyqxmd.com/read/27737608/a-prospective-cohort-study-investigating-the-effect-of-generalized-joint-hypermobility-on-outcomes-after-arthroscopic-anterior-shoulder-stabilization
#15
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...
November 2016: Physician and Sportsmedicine
https://www.readbyqxmd.com/read/27619482/gynecologic-symptoms-and-the-influence-on-reproductive-life-in-386-women-with-hypermobility-type-ehlers-danlos-syndrome-a-cohort-study
#16
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
https://www.readbyqxmd.com/read/27576954/phenotypic-variability-in-patients-with-osteogenesis-imperfecta-caused-by-bmp1-mutations
#17
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...
December 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27565757/case-report-a-rare-case-of-pedunculated-lv-hemangioma-evaluated-by-3d-echocardiography-and-compared-with-myxoma
#18
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.
October 2016: Echocardiography
https://www.readbyqxmd.com/read/27549555/successful-thrombectomy-for-an-idiopathic-floating-ascending-aortic-thrombus
#19
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
https://www.readbyqxmd.com/read/27483212/generalized-hyperalgesia-in-children-and-adults-diagnosed-with-hypermobility-syndrome-and-ehlers-danlos-syndrome-hypermobility-type-a-discriminative-analysis
#20
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
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