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https://www.readbyqxmd.com/read/28102596/delineation-of-ehlers-danlos-syndrome-phenotype-due-to-the-c-934c-t-p-arg312cys-mutation-in-col1a1-report-on-a-three-generation-family-without-cardiovascular-events-and-literature-review
#1
Marina Colombi, Chiara Dordoni, Marina Venturini, Arianna Zanca, Piergiacomo Calzavara-Pinton, Marco Ritelli
Classical Ehlers-Danlos syndrome (cEDS) is a rare connective tissue disorder primarily characterized by hyperextensible skin, defective wound healing, abnormal scars, easy bruising, and generalized joint hypermobility; arterial dissections are rarely observed. Mutations in COL5A1 and COL5A2 encoding type V collagen account for more than 90% of the patients so far characterized. In addition, cEDS phenotype was reported in a small number of patients carrying the c.934C>T mutation in COL1A1 that results in an uncommon substitution of a non-glycine residue in one Gly-Xaa-Yaa repeat of the pro-α1(I)-chain p...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28086259/gastrointestinal-disorders-in-joint-hypermobility-syndrome-ehlers-danlos-syndrome-hypermobility-type-a-review-for-the-gastroenterologist
#2
REVIEW
A B Beckers, D Keszthelyi, A Fikree, L Vork, A Masclee, A D Farmer, Q Aziz
BACKGROUND: Joint hypermobility syndrome (JHS)/Ehlers-Danlos syndrome hypermobility type (EDS-HT) is the most common hereditary non-inflammatory disorder of connective tissue, characterized by a wide range of symptoms, mainly joint hyperextensibility and musculoskeletal symptoms. A majority of patients also experiences gastrointestinal (GI) symptoms. Furthermore, JHS/EDS-HT has specifically been shown to be highly prevalent in patients with functional GI disorders, such as functional dyspepsia and irritable bowel syndrome...
January 13, 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/28073787/col6a5-variants-in-familial-neuropathic-chronic-itch
#3
Filippo Martinelli-Boneschi, Marina Colombi, Marco Castori, Grazia Devigili, Roberto Eleopra, Rayaz A Malik, Marco Ritelli, Nicoletta Zoppi, Chiara Dordoni, Melissa Sorosina, Paola Grammatico, Hassan Fadavi, Monique M Gerrits, Rowida Almomani, Catharina G Faber, Ingemar S J Merkies, Daniela Toniolo, Massimiliano Cocca, Claudio Doglioni, Stephen G Waxman, Sulayman D Dib-Hajj, Michela M Taiana, Jenny Sassone, Raffaella Lombardi, Daniele Cazzato, Andrea Zauli, Silvia Santoro, Margherita Marchi, Giuseppe Lauria
Itch is thought to represent the peculiar response to stimuli conveyed by somatosensory pathways shared with pain through the activation of specific neurons and receptors. It can occur in association with dermatological, systemic and neurological diseases, or be the side effect of certain drugs. However, some patients suffer from chronic idiopathic itch that is frequently ascribed to psychological distress and for which no biomarker is available to date. We investigated three multigenerational families, one of which diagnosed with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT), characterized by idiopathic chronic itch with predominantly proximal distribution...
January 9, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28053253/minimally-invasive-periacetabular-osteotomy-using-a-modified-smith-petersen-approach-technique-and-early-outcomes
#4
O H Khan, A Malviya, P Subramanian, D Agolley, J D Witt
AIMS: Periacetabular osteotomy is an effective way of treating symptomatic hip dysplasia. We describe a new minimally invasive technique using a modification of the Smith-Peterson approach. We performed a prospective, longitudinal cohort study to assess for any compromise in acetabular correction when using this approach, and to see if the procedure would have a higher complication rate than that quoted in the literature for other approaches. We also assessed for any improvement in functional outcome...
January 2017: Bone & Joint Journal
https://www.readbyqxmd.com/read/28052441/joint-hypermobility-and-oligoarticular-juvenile-idiopathic-arthritis-what-relationship
#5
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/28051109/ehlers-danlos-syndrome-hypermobility-type-is-associated-with-rheumatic-diseases
#6
Kyla R Rodgers, Jiang Gui, Mary Beth P Dinulos, Richard C Chou
We retrospectively analyzed electronic medical records of patients with Ehlers-Danlos Syndrome hypermobility type (HEDS), including demographic information, workup, rheumatological diagnoses in order to determine its association with rheumatological conditions. HEDS Patients were stratified according to level of workup received (no additional work (physical exam only) = NWU, limited workup = LWU, comprehensive workup = CWU)). HEDS patients were predominantly female (21:4, F:M). The percentage of patients with at least one rheumatological condition was significantly correlated with level of workup (NWU, 9...
January 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28043848/surgical-treatment-of-degenerative-spondylolisthesis
#7
REVIEW
P Guigui, E Ferrero
Degenerative spondylolisthesis is a common pathology, often causing lumbar canal stenosis. There is, however, no strong consensus regarding the various medical and surgical treatments available. Surgery is indicated mainly for perceived functional impairment; when the indication is accepted, several questions determine the choice of surgical strategy. Improvement in neurological symptoms is one of the main treatment objectives. For this, it is useful to perform radicular decompression. Some authors recommend indirect decompression by interbody fusion (ALIF, TLIF, XLIF), others by means of an interspinous spacer but the most frequent technique is direct posterior decompression...
December 30, 2016: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/28002905/arthroscopic-all-inside-treatment-of-popliteomeniscal-fascicles-tears-surgical-technique-and-results-from-the-first-6-consecutive-patients
#8
R Simonetta, G Di Vico, R Papalia, S Vasta, V Denaro
Athletes whose knees are subjected to sudden changes of direction and high jumps such as martial arts athletes, dancers, wrestlers and football players are at higher risk of injuring popliteomeniscal fascicles. Painful squatting and mechanical symptoms such as locking sensation are common. Current available treatments includes open or arthroscopic in repair. Arthroscopic repair with all-inside device can relieve symptoms and restore knee function. Six patients from two surgical centers with isolated popliteomeniscal fascicles tears were treated with arthroscopic all-inside repair...
October 2016: Journal of Biological Regulators and Homeostatic Agents
https://www.readbyqxmd.com/read/27990838/multiple-perforation-of-small-intestine-diverticula-in-a-patient-with-ehlers-danlos-syndrome
#9
Raúl Honrubia Lopez, Aurora Burgos García, Elena Palacios Lázaro
Ehlers-Danlos syndrome represents a group of hereditary connective tissue disorders characterized by ligamentous hyperlaxity, fragile skin and joint hypermobility. Gastrointestinal complications in this syndrome are less well known.
January 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/27977828/modified-lip-repositioning-with-esthetic-crown-lengthening-a-combined-approach-to-treating-excessive-gingival-display
#10
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/27973938/anesthetic-management-of-a-patient-with-ehlers-danlos-syndrome
#11
Naohiro Ohshita, Masahiko Kanazumi, Kaname Tsuji, Hiroaki Yoshida, Shosuke Morita, Yoshihiro Momota, Yasuo M Tsutsumi
We describe the case of a 37-year-old woman who had been diagnosed with Ehlers-Danlos syndrome (EDS) 4 years earlier and was scheduled to undergo removal of synovial chondromatosis in the temporomandibular joint. EDS is a heritable connective tissue disorder and has 6 types. In this case, the patient was classified into EDS hypermobility type. The major clinical feature of this type is joint hypermobility. The patient had sprain or subluxation of the elbows and ankles and dislocation of the knees. Anticipated problems during general anesthesia would be affected by the disease type...
2016: Anesthesia Progress
https://www.readbyqxmd.com/read/27931013/the-influence-of-ehlers-danlos-syndrome-hypermobility-type-on-motherhood-a-phenomenological-hermeneutical-study
#12
Stijn De Baets, Marieke Vanhalst, Marieke Coussens, Lies Rombaut, Fransiska Malfait, Geert Van Hove, Patrick Calders, Guy Vanderstraeten, Dominique van de Velde
BACKGROUND: The consequences of the Ehlers-Danlos Syndrome hypermobility type (EDS-HT) affect many aspects of daily life. "Living with limitations" is a central theme in the life of patients affected by this heritable disorder of connective tissue. The aim of the present study was to explore the lived experiences of women with EDS-HT concerning diagnosis, influence on daily life and becoming and being a mother. METHOD: A phenomenological-hermeneutical study, using in-depth interviews...
January 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/27921302/the-role-of-embryo-movement-in-the-development-of-the-furcula
#13
A S Pollard, S Boyd, I M McGonnell, A A Pitsillides
The pectoral girdle is a complex structure which varies in its morphology between species. A major component in birds is the furcula, which can be considered equivalent to a fusion of the paired clavicles found in many mammals, and the single interclavicle found in many reptiles. These elements are a remnant of the dermal skeleton and the only intramembranous bones in the trunk. Postnatally, the furcula plays important mechanical roles by stabilising the shoulder joint and acting as a mechanical spring during flight...
December 6, 2016: Journal of Anatomy
https://www.readbyqxmd.com/read/27908650/musculoskeletal-conditions-in-a-pediatric-population-with-ehlers-danlos-syndrome
#14
Courtney M Stern, Michael J Pepin, Joan M Stoler, Dennis E Kramer, Samantha A Spencer, Cynthia J Stein
OBJECTIVE: To describe musculoskeletal conditions in children with Ehlers-Danlos syndrome (EDS). STUDY DESIGN: A retrospective medical record review was performed, which evaluated 205 patients with EDS (ages 6-19 years) seen in sports medicine or orthopedic clinic at a large pediatric hospital over a 5-year period. RESULTS: Female (n = 147) and male (n = 57) patients were identified (mean age 12.7 years). The most common EDS subtype (55...
November 28, 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/27905201/the-symptom-matrix-using-a-formalism-based-approach-to-address-complex-syndromes-systematically
#15
Jennifer D Skillen
Complex rheumatological syndromes such as Systemic lupus erythematosus, Sjogren's Syndrome and many connective tissue disorders can be a challenge to classify and diagnose, due to their wide-ranging signs and symptoms, not all of which will necessarily be present in all patients. This can result in difficulties for the clinician, patient and researcher if signs and symptoms are either overlooked or are incorrectly included in the nosology or classification of diseases. This article presents a formalism-based approach to describing syndromes...
December 1, 2016: Musculoskeletal Care
https://www.readbyqxmd.com/read/27904790/current-concepts-in-the-treatment-of-gross-patellofemoral-instability
#16
Grant Buchanan, LeeAnne Torres, Brian Czarkowski, Charles E Giangarra
: Patellofemoral instability is a painful and commonly recurring condition, which often must be managed surgically. Diagnosis can be aided by the use of a variety of physical exam signs, such as the Q angle, Beighton hypermobility score, glide test, J sign, patellar tilt test, and apprehension test. Imaging modalities including x-ray, CT, and MRI guide both diagnosis and management by revealing trochlear dysplasia, bony malalignment, and ligamentous injury that contribute to instability...
December 2016: International Journal of Sports Physical Therapy
https://www.readbyqxmd.com/read/27886590/pelvic-floor-dynamics-during-high-impact-athletic-activities-a-computational-modeling-study
#17
Nicholas Dias, Yun Peng, Rose Khavari, Nissrine A Nakib, Robert M Sweet, Gerald W Timm, Arthur G Erdman, Timothy B Boone, Yingchun Zhang
BACKGROUND: Stress urinary incontinence is a significant problem in young female athletes, but the pathophysiology remains unclear because of the limited knowledge of the pelvic floor support function and limited capability of currently available assessment tools. The aim of our study is to develop an advanced computer modeling tool to better understand the dynamics of the internal pelvic floor during highly transient athletic activities. METHODS: Apelvic model was developed based on high-resolution MRI scans of a healthy nulliparous young female...
November 18, 2016: Clinical Biomechanics
https://www.readbyqxmd.com/read/27874893/abnormal-wound-healing-related-to-high-dose-systemic-corticosteroid-therapy-in-a-patient-with-ehlers-danlos-syndrome-benign-hypermobility-type
#18
Stephanie K Jacks, Matthew J Zirwas
The adverse impact of chronic corticosteroid therapy on wound healing has been well characterized, as has abnormal wound healing known to occur in the classic type of Ehlers-Danlos syndrome (EDS). In contrast, abnormal wound healing is absent in cases of EDS benign hypermobility type (EDS-BHT). We present the case of a patient with EDS-BHT with no history of abnormal wound healing who developed large nonhealing ulcers to sites of minor trauma after initiating therapy with high-dose systemic corticosteroids for dermatomyositis...
October 2016: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/27863848/hypermobility-and-musculoskeletal-pain-in-adolescents
#19
Susan L Morris, Peter B O'Sullivan, Kevin J Murray, Natasha Bear, Beth Hands, Anne J Smith
OBJECTIVE: To determine the prevalence of generalized joint hypermobility (GJH) in a large cohort of Australian children and determine the associations between GJH and musculoskeletal pain. STUDY DESIGN: This is a cross-sectional analysis of the Western Australian Pregnancy Cohort (Raine) Study. Hypermobility was measured in 1584 participants at 14 years of age using the Beighton scoring system, along with a range of other factors including musculoskeletal pain status...
November 16, 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/27857136/differentiating-lipedema-and-dercum-s-disease
#20
K Beltran, K L Herbst
BACKGROUND: People with lipedema or Dercum's disease (DD) can have a similar distribution of excess painful nodular subcutaneous adipose tissue (SAT), making them difficult to differentiate. METHODS: Case series of 94 patients with DD, 160 with lipedema and 18 with both diagnoses (Lip+DD) from a single clinic in an academic medical center to improve identification and differentiation of these disorders by comparison of clinical findings, prevalence of type 2 diabetes (DM2), hypermobility by the Beighton score and assessment of a marker of inflammation, Total complement activity (CH50)...
December 20, 2016: International Journal of Obesity: Journal of the International Association for the Study of Obesity
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