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Shahram E Mehr, Adrian Barbul, Cyndya A Shibao
Gastrointestinal symptoms are among the most common complaints in patients with postural tachycardia syndrome (POTS). In some cases, they dominate the clinical presentation and cause substantial disabilities, including significant weight loss and malnutrition, that require the use of invasive treatment to support caloric intake. Multiple cross-sectional studies have reported a high prevalence of gastrointestinal symptoms in POTS patients with connective tissue diseases, such as Ehlers-Danlos, hypermobile type, and in patients with evidence of autonomic neuropathy...
March 16, 2018: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
A L Sander, K Sommer, K Eichler, I Marzi, J Frank
Typical lesions of the carpal ligaments are mostly found after a fall on the wrist in hyperextension or as complex injuries after severe trauma, e. g. after a fall from a significant height, motorcycle accident or as accompanying lesions in multiple trauma. The typical mechanisms, patterns and diagnostic algorithms are well known for the common ligamentous injuries (e.g. scapholunate, lunotriquetral and perilunate); therefore, consistent diagnostic procedures and adequate therapy are increasingly performed after such lesions, e...
March 13, 2018: Der Unfallchirurg
S Daens, D Grossin, T Hermanns-Lê, D Peeters, D Manicourt
We report the history of a 15-year old patient with a hypermobile Ehlers-Danlos syndrome (hEDS) (his mother, his two brothers and his sister have the same phenotype as him). He suffers mainly from a severe mast cell activation syndrome (MCAS) with an overreaction of the skin to any kind of contact (water of the shower, clothes, bed sheets) but he has also fatigue, headaches, and rash. This impressive rash is exacerbated after the shower and he has the urge to rest («shower's sign»). We describe the MCAS and its easy, fast and very effective medication management, without any significant side effects as well as its frequent association with the hEDS...
February 2018: Revue Médicale de Liège
Leslie L Nicholson, Cliffton Chan
BACKGROUND: Existing measures of generalized joint hypermobility do not include commonly affected upper limb joints. OBJECTIVE: To evaluate the reliability of a novel clinically-applicable measure of upper limb joint mobility, its ability to discriminate between varying extents of hypermobility, identify generalized joint hypermobility, and to establish a cut-point for hypermobility classification. DESIGN: Validation of a diagnostic tool. METHOD: Participants were sought from three groups - healthy controls, likely and known hypermobiles, and assessed using the Upper Limb Hypermobility Assessment Tool (ULHAT), Beighton score and clinical opinion...
February 22, 2018: Musculoskeletal Science & Practice
Carolina Baeza-Velasco, Caroline Bourdon, Lucile Montalescot, Cécile de Cazotte, Guillem Pailhez, Antonio Bulbena, Claude Hamonet
Despite the frequent co-ocurrence of hypermobile Ehler-Danlos syndrome (hEDS) and pathological anxiety, little is known about the psychosocial and health implications of such comorbidity. Our aim was to explore the association between high levels of anxiety and psychosocial (catastrophizing, kinesiophobia, somatosensory amplification, social support and functioning), health (pain, fatigue, BMI, tobacco/alcohol use, depression, diagnosis delay, general health), and sociodemographic factors in people with hEDS...
March 1, 2018: Rheumatology International
Carolina Baeza-Velasco, Lorenzo Sinibaldi, Marco Castori
Attention-deficit/hyperactivity disorder (ADHD) and generalized joint hypermobility (JH) are two separated conditions, assessed, and managed by different specialists without overlapping interests. Recently, some researchers highlighted an unexpected association between these two clinical entities. This happens in a scenario of increasing awareness on the protean detrimental effects that congenital anomalies of the connective tissue may have on human health and development. To review pertinent literature to identify possible connections between ADHD and GJH, special emphasis was put on musculoskeletal pain and syndromic presentations of GJH, particularly the hypermobile Ehlers-Danlos syndrome...
February 14, 2018: Attention Deficit and Hyperactivity Disorders
A Medina-Andrade, C Villanueva-Mendoza, S Arenas, V Cortés-González
CASE REPORT: The case concerns a 16 year-old boy with a history of high myopia and unilateral congenital cataract, tall stature for age, facial dysmorphism, hypermobile metacarpal-phalangeal joints, as well as behavioural problems. The mother had a history of recurrent pregnancy loss. Chromosomal analysis of the peripheral blood lymphocytes reported 47,XYY. DISCUSSION: Patients with sex chromosome aneuploidy 47,XYY have higher risk of congenital malformations, although ophthalmological anomalies are unusual...
January 31, 2018: Archivos de la Sociedad Española de Oftalmología
Jeffrey R Boris, Thomas Bernadzikowski
OBJECTIVE: The aim of this study was to identify and evaluate demographic and clinical features of paediatric patients with postural orthostatic tachycardia syndrome in a tertiary hospital speciality clinic. METHOD: This is a retrospective review of clinical data obtained during initial outpatient evaluation. RESULTS: A total of 708 patients met the evaluation criteria. Female patients outnumbered males, 3.45:1. Caucasians were over-represented at 94...
January 23, 2018: Cardiology in the Young
Kaissar Yammine
Digital sesamoids are found in the metapodial-phalangeal joints of most mammals and quadrupedal tetrapods, yet their functional significance is still unclear. During primate evolution, a slight decline in their frequency has been associated with brachiation in gibbons, followed by a quasi-complete absence in orangutans then a slight resurgence occurred in gorillas and chimpanzees. Simultaneously, forearm muscles showed a progressive division in hominoid evolution towards a more "individualistic" musculature yielding more mobility and independence to some fingers...
January 3, 2018: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
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
Kaitlin J Meyer, Cliffton Chan, Luke Hopper, Leslie L Nicholson
BACKGROUND: The Lower Limb Assessment Score (LLAS) has only been validated in a paediatric population. The aim of this study was to validate the use of the LLAS in an adult population by: i) evaluating its ability to discriminate between different extents of lower limb hypermobility, ii) establishing a cut-off score to identify lower limb hypermobility, and iii) determining if the LLAS is able to identify Generalised Joint Hypermobility (GJH). METHODS: Participants were recruited across three groups representing varying degrees of hypermobility...
December 6, 2017: BMC Musculoskeletal Disorders
Andrew W Joseph, Shannon S Joseph, Clair A Francomano, Theda C Kontis
Importance: Ehlers-Danlos syndromes (EDSs) are a group of heritable connective tissue disorders. Patients with EDSs can develop excessive facial rhytids, nasal deformities, and facial scarring, for which they may seek consultation with a facial plastic surgeon. Ehlers-Danlos syndromes can be associated with serious surgical complications and should be identified preoperatively to facilitate optimal treatment. To our knowledge, no management guidelines for patients with EDSs exist in the facial plastic surgery literature...
November 9, 2017: JAMA Facial Plastic Surgery
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
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
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
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
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...
December 2017: Autonomic Neuroscience: Basic & Clinical
Timothy E Hewett
Graft failure rates were higher and inferior subjective outcomes were observed after anterior cruciate ligament reconstruction in patients with generalized hypermobility. This is a clear and corroborative finding that is highly consilient with other reports of similar studies from the published literature. However, controversy remains regarding other potentially predictive and confounding variables. For example, age, activity level, sex, and dynamic neuromuscular control were not considered in this interesting, important, and potentially impactful study...
October 2017: Arthroscopy: the Journal of Arthroscopic & related Surgery
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
Zachary C Lum, John G Coury, Jonathan L Cohen, Lawrence D Dorr
Recent studies may suggest that our conventional knowledge of risk factors for dislocation may need rethinking. Previous studies have demonstrated a large majority of total hip arthroplasty instability with acetabular cups implanted in safe zones. Recently discovered spinopelvic motion is a coordinated biomechanical relationship among acetabular anteversion, pelvic tilt, and lumbar lordosis. Classification includes normal, hypermobile, stiff, stuck standing, stuck sitting, and fused. Normal spinopelvic motion from standing to sitting occurs with hip flexion, posterior sacral tilt, and decreased lumbar lordosis to accommodate a flexed femur and prevent impingement and dislocation...
January 2018: Journal of Arthroplasty
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