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https://www.readbyqxmd.com/read/29328753/a-critical-analysis-of-the-perioperative-management-of-patients-with-ehlers-danlos-type-iv-vascular-syndrome
#1
Justyna Martin
This article discusses the perioperative care needs of patients with Ehlers Danlos type IV (vascular) syndrome. Ehlers Danlos syndrome (EDS) is a heritable group of connective tissue disorders characterised by varying degrees of tissue, blood vessel and internal organ fragility as well as skin and joint hypermobility (De Paepe and Malfait 2012).
September 2017: Journal of Perioperative Practice
https://www.readbyqxmd.com/read/29309923/dermal-fibroblast-to-myofibroblast-transition-sustained-by-%C3%AE-v%C3%A3-3-integrin-ilk-snail1-slug-signaling-is-a-common-feature-for-hypermobile-ehlers-danlos-syndrome-and-hypermobility-spectrum-disorders
#2
Nicoletta Zoppi, Nicola Chiarelli, Silvia Binetti, Marco Ritelli, Marina Colombi
Hypermobile Ehlers-Danlos syndrome (hEDS) is a heritable connective tissue disorder with unknown molecular basis mainly characterized by generalized joint hypermobility, joint instability complications and minor skin changes. The phenotypic spectrum is broad and includes multiple associated symptoms shared with chronic inflammatory systemic diseases. The stricter criteria defined in the 2017 EDS nosology leave without an identity many individuals with symptomatic joint hypermobility and/or features of hEDS; for these patients, the term Hypermobility Spectrum Disorders (HSD) was introduced...
January 5, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29308941/a-multimodal-physical-therapy-approach-utilizing-the-maitland-concept-in-the-management-of-a-patient-with-cervical-and-lumbar-radiculitis-and-ehlers-danlos-syndrome-hypermobility-type-a-case-report
#3
Adelina Pennetti
The purpose of this case report is to present a multimodal approach for patient management using the Maitland concept framework for cervical and lumbar radiculitis with an underlying diagnosis of Ehlers-Danlos Syndrome-Hypermobility Type (EDS-HT). This case presents care guided by evidence, patient values, and rationale for the selected course of physical therapy treatment provided by therapist experience. A 35-year-old female with a 2-year history of worsening lumbar and cervical pain was referred to physical therapy to address these musculoskeletal issues concurrent with diagnostic testing for EDS...
January 8, 2018: Physiotherapy Theory and Practice
https://www.readbyqxmd.com/read/29247552/ehlers-danlos-syndrome-in-a-young-woman-with-anorexia-nervosa-and-complex-somatic-symptoms
#4
Michelle Lee, Mattias Strand
The Ehler-Danlos syndromes (EDS) are a group of clinically heterogeneous connective tissue disorders characterized by joint hypermobility, hyperextensibility of the skin, and a general connective tissue fragility that can induce symptoms from multiple organ systems. We present a case of comorbid anorexia nervosa and EDS in a 23-year old woman with a multitude of somatic symptoms that were initially attributed to the eating disorder but that were likely caused by the underlying EDS. Various EDS symptoms, such as gastrointestinal complaints, smell and taste abnormalities, and altered somatosensory awareness may resemble or mask an underlying eating disorder, and vice versa...
December 16, 2017: International Journal of Eating Disorders
https://www.readbyqxmd.com/read/29242787/foot-deformities-in-hajdu-cheney-syndrome-a-rare-case-report-and-review-of-the-literature
#5
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
#6
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
#7
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
#8
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
#9
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/29140387/full-mouth-rehabilitation-with-calvarium-bone-grafts-and-dental-implants-for-a-papillon-lef%C3%A3-vre-syndrome-patient-case-report
#10
Bassam M Kinaia, Kristyn Hope, Ahmed Zuhaili, Jean Francois Tulasne
Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder of keratinization associated with palmoplantar keratoderma and severe periodontitis resulting in complete edentulism in late adolescence. The pathognomonic dental features of PLS are pathologic migration, hypermobility, and exfoliation of the teeth without any signs of root resorption. It has been suggested that an effective way to treat PLS patients presenting early in the disease progression is extraction of the erupted primary dentition or hopeless permanent teeth followed by antibiotic coverage with periodontal therapy for the remaining teeth...
November 2017: International Journal of Oral & Maxillofacial Implants
https://www.readbyqxmd.com/read/29125009/exercise-beliefs-and-behaviours-of-individuals-with-joint-hypermobility-syndrome-ehlers-danlos-syndrome-hypermobility-type
#11
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
#12
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
#13
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
#14
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
#15
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/29023277/diagnosis-and-treatment-of-slipping-rib-syndrome
#16
Cassidy M Foley, Dai Sugimoto, David P Mooney, William P Meehan, Andrea Stracciolini
OBJECTIVE: (1) To investigate the clinical presentation, diagnosis, and treatment of slipping rib syndrome in athletes; (2) to investigate the hooking maneuver for diagnosis of slipping rib syndrome. DESIGN: Retrospective chart review of 362 athletes with rib pain. SETTING: Pediatric-based sports medicine clinic between January 1, 1999, and March 1, 2014. PATIENTS: Costochondritis, Tietze, fractures, rib tip syndrome, and unclear diagnoses were excluded...
October 6, 2017: Clinical Journal of Sport Medicine: Official Journal of the Canadian Academy of Sport Medicine
https://www.readbyqxmd.com/read/29017019/results-of-combined-single-session-arthrocentesis-and-dextrose-prolotherapy-for-symptomatic-temporomandibular-joint-syndrome-a-case-series
#17
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/28986003/postural-tachycardia-in-hypermobile-ehlers-danlos-syndrome-a-distinct-subtype
#18
Mitchell G Miglis, Brittany Schultz, Srikanth Muppidi
INTRODUCTION: It is not clear if patients with postural tachycardia syndrome (POTS) and Ehlers-Danlos syndrome (hEDS) differ from patients with POTS due to other etiologies. We compared the results of autonomic testing and healthcare utilization in POTS patients with and without hEDS. METHODS: Patients with POTS+hEDS (n=20) and POTS controls without hypermobility (n=20) were included in the study. All patients underwent autonomic testing, and the electronic medical records were reviewed to determine the number and types of medications patients were taking, as well as the number of outpatient, emergency department, and inpatient visits over the prior year...
October 2, 2017: Autonomic Neuroscience: Basic & Clinical
https://www.readbyqxmd.com/read/28971234/a-novel-dominant-col11a1-mutation-in-a-child-with-stickler-syndrome-type-ii-is-associated-with-recurrent-fractures
#19
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
#20
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
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