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Pil Hyung Lee, Jae-Kwan Song, Jong S Kim, Ran Heo, Sahmin Lee, Dae-Hee Kim, Jong-Min Song, Duk-Hyun Kang, Sun U Kwon, Dong-Wha Kang, Dongwhane Lee, Hyuk Sung Kwon, Sung-Cheol Yun, Byung Joo Sun, Jae-Hyeong Park, Jae-Hwan Lee, Hye Seon Jeong, Hee-Jung Song, Jei Kim, Seung-Jung Park
BACKGROUND: Recent reports showing the favorable role of patent foramen ovale (PFO) closure in patients with cryptogenic stroke have raised the issue of selecting optimal candidates. OBJECTIVES: We evaluated whether the benefits of PFO closure can be determined based on the morphologic characteristics of the PFO, as evaluated by transesophageal echocardiography. METHODS: Patients with cryptogenic stroke and high-risk PFO were divided between a transcatheter PFO closure and a medication-only group...
February 28, 2018: Journal of the American College of Cardiology
Rawand Mustafa, Metin Güngörmüş, Nur Mollaoğlu
PURPOSE: The aim of this study was to compare and evaluate the efficacy of different concentrations of dextrose prolotherapy for the treatment of temporomandibular joint (TMJ) hypermobility. PATIENTS AND METHODS: A prospective, randomized clinical trial including patients with subluxation or dislocation was performed. The study comprised 40 patients. Patients were randomly divided into 4 groups: control group, 10% dextrose, 20% dextrose, and 30% dextrose group. Patients in all groups received injections into 4 different areas of each TMJ in 4 sessions at monthly intervals...
March 12, 2018: Journal of Craniofacial Surgery
C Viana, H Cristino, C Veiga, P Leão
INTRODUCTION: Wandering spleen is an unusual condition characterized by hypermobility of the spleen. This is a rare clinical entity and it's more common in childhood under 1 year of age and in third decade of life. In this second peak, it's more frequent in females. Clinical manifestations can vary from asymptomatic to abdominal emergency. Treatment is often surgical. PRESENTATION OF CASE: We presented a case report of splenic torsion from our hospital and a review of cases described in literature...
February 25, 2018: International Journal of Surgery Case Reports
Giles Gyer, Jimmy Michael, James Inklebarger
Hand injury is the second most common work-related musculoskeletal injury among physical therapists (PTs) and other manual therapy professionals such as osteopaths, physiotherapists, chiropractors, acupuncturists and massage therapists. However, the nature and extent of this problem have not been fully explored yet. Therefore, the objective of this study was to review the existing literature published on the prevalence, risk factors, consequences, and prevention of hand injuries among PTs and similar healthcare professionals...
March 2018: Journal of Integrative Medicine
Yanira Sanchez-De la Torre, Rita Wadeea, Victoria Rosas, Karen L Herbst
Background Lipedema is a chronic disorder presenting in women during puberty or other times of hormonal change such as childbirth or menopause, characterized by symmetric enlargement of nodular, painful subcutaneous adipose tissue (fat) in the limbs, sparing the hands, feet and trunk. Healthcare providers underdiagnose or misdiagnose lipedema as obesity or lymphedema. Materials and methods The benefits (friend) and negative aspects (foe) of lipedema were collected from published literature, discussions with women with lipedema, and institutional review board approved evaluation of medical charts of 46 women with lipedema...
March 9, 2018: Hormone Molecular Biology and Clinical Investigation
Yukiko Kuroda, Ikuko Ohashi, Takuya Naruto, Kazumi Ida, Yumi Enomoto, Toshiyuki Saito, Jun-Ichi Nagai, Kenji Kurosawa
Ehlers-Danlos syndrome classical type (cEDS) is a connective tissue disorder characterized by skin hyperextensibility, atrophic scarring, and joint hypermobility. The condition typically results from mutations in COL5A1 or COL5A2 leading to the functional haploinsufficiency. Here, we report of a 24-year-old male with mild intellectual disability, dysmorphic features, and a phenotype consistent with cEDS. A copy number variant-calling algorithm from panel sequencing data identified the deletions exons 2-11 and duplications of exons 12-67 within COL5A1...
March 9, 2018: Congenital Anomalies
Maria Roma, Colleen L Marden, Inge De Wandele, Clair A Francomano, Peter C Rowe
OBJECTIVE: To review the association between orthostatic intolerance syndromes and both joint hypermobility and Ehlers-Danlos syndrome, and to propose reasons for identifying hereditary connective tissue disorders in those with orthostatic intolerance in the context of both clinical care and research. METHODS: We searched the published peer-reviewed medical literature for papers reporting an association between joint hypermobility or Ehlers-Danlos syndrome and orthostatic intolerance...
March 5, 2018: Autonomic Neuroscience: Basic & Clinical
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
Priya Vijayvargiya, Michael Camilleri, Robert R Cima
A 22-year-old woman presented with 12 years of progressive constipation; she had increased joint flexibility, hyperextensible skin, and excessive perineal descent on examination. Radiological studies confirmed evidence of rectal evacuation disorder due to descending perineum syndrome, enterocele, and rectocele. In a wide genetic screen (∼611,000 single nucleotide polymorphisms), 4 variations were identified in COL1A1 gene ([rs72656352, Chr17: 50,185,535-50,185,539, deletion], [rs72654794, Chr17: 50,188,575, deletion], [rs72667023, Chr17: 50,198,170, deletion], [rs67828806, Chr17: 50,198,177 G→C])...
March 2018: Mayo Clinic Proceedings
Francesca Cortini, Chiara Villa
The Ehlers-Danlos syndromes (EDS) comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs), characterised by joint hypermobility, hyperextensibility of the skin and tissue fragility that can induce symptoms from multiple organ systems. The latest EDS nosology distinguished thirteen subtypes with an overlap of phenotypic features, making the clinical diagnosis rather difficult and highlighting the importance of molecular diagnostic confirmation. Although the nervous system is not considered a primary target of the underlying molecular defect, recently, increasing attention has been focused on neurological manifestations of EDS...
February 27, 2018: Seizure: the Journal of the British Epilepsy Association
David Drummond, Travis Motley, Victor Kosmopoulos, Jordan Ernst
Lapidus (first tarsometatarsal joint) arthrodesis is an established and widely used procedure for the management of moderate to severe hallux valgus, especially in cases involving hypermobility of the first tarsometatarsal joint. Multiple fixation methods are available, and several previous investigations have studied the relative strengths of these methods, including dorsomedial and plantar plating comparisons. However, these studies compared plates of varying designs and mechanical properties and used varying modes of compression and interfragmentary screw techniques...
February 19, 2018: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
Barak C Clement, Christopher Forster, Nicholas Logemann
Focal linear elastosis (FLE) is a benign skin findingcharacterized by hypertrophic linear plaques withabnormal elastic fibers on histology. We present aunique case in which focal linear elastosis occurredin the setting of joint hypermobility syndrome(JHS). Our patient, a 20-year-old man with a medicalhistory significant for symptoms consistent with JHS,had been followed by the rheumatology clinic formany months. He was referred to the dermatologydepartment for further evaluation of asymptomaticlongitudinal bands on his back that had been presentfor many years...
January 15, 2018: Dermatology Online Journal
Silvia Morlino, Marco Castori, Chiara Dordoni, Valeria Cinquina, Graziano Santoro, Paola Grammatico, Marina Venturini, Marina Colombi, Marco Ritelli
Heterozygous variants in MAP3K7, encoding the transforming growth factor-β-activated kinase 1 (TAK1), are associated with the ultrarare cardiospondylocarpofacial syndrome (CSCFS). Specific gain-of-function variants in the same gene cause the allelic frontometaphyseal dysplasia type 2. Phenotypic series of frontometaphyseal dysplasia also comprise variants in FLNA (type 1) and two patients with a heterozygous variant in TAB2 (type 3). We report on a 7-year-old girl with CSCFS due to the novel heterozygous c...
February 21, 2018: European Journal of Human Genetics: EJHG
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
Christian Dippmann, Otto Kraemer, Bent Lund, Michael Krogsgaard, Per Hölmich, Martin Lind, Karen Briggs, Marc Philippon, Bjarne Mygind-Klavsen
INTRODUCTION: Hip arthroscopy has become a standard procedure in the treatment of hip joint pain not related to osteoarthritis or dysplasia in the young and active patient. There has been increasing focus on the contribution of the hip capsule to function and on stability following hip arthroscopy. It has been suggested that capsular closure after hip arthroscopy may prevent microinstability and macroinstability of the hip joint and reduce revision rate. However, it remains unknown whether capsular closure should be performed as a standard procedure when performing hip arthroscopies, especially in patients without additional risk factors for instability such as hypermobility or dysplasia of the hip...
February 10, 2018: BMJ Open
Hai-Bo Zhou, Chao Zhang, Li-Chuang Wu, Cai-Long Liu
OBJECTIVE: To explore plantar pressure measurement system in treating the first ray hypermobility. METHODS: From June 2013 to January 2014, 16 female patients (20 feet) with hallux valgus with unstable of the first sequence were treated by first tarsometatarsal joint fusion, aged from 42 to 52 years old with an average of(46.5±2.9) years old, the course of disease was from 3 to 5 years. Twenty healthy female(20 feet) were chosen as control group, and single side were only choose, aged from 41 to 55 years old with an average of(46...
June 25, 2017: Zhongguo Gu Shang, China Journal of Orthopaedics and Traumatology
Young Mo Kim, Yong-Bum Joo
PURPOSE: To describe the clinical, arthroscopic, and magnetic resonance imaging (MRI) findings of knees with anomalous insertion of the anterior horn of the medial meniscus (AHMM) into the intercondylar notch via an anteromedial meniscofemoral ligament (AMMFL). METHODS: A total of 2,503 arthroscopic knee surgeries performed from July 2003 to October 2016 were reviewed retrospectively to identify knees with an AMMFL. Medical records, arthroscopic photographs, and MRI of identified cases were analyzed...
February 2, 2018: Arthroscopy: the Journal of Arthroscopic & related Surgery
Min A Park, So Youn Shin, Young Jin Kim, Myung Jae Park, Seung Hyeun Lee
RATIONALE: Vascular Ehlers-Danlos syndrome (vEDS) is a rare autosomal dominant inherited collagen disorder caused by defects or deficiency of pro-alpha 1 chain of type III procollagen encoded by COL3A1. vEDS is characterized not only by soft tissue manifestations including hyperextensibility of skin and joint hypermobility but also by early mortality due to rupture of arteries or vital organs. Although pulmonary complications are not common, vEDS cases complicated by pneumothorax, hemothorax, or intrapulmonary hematoma have been reported...
November 2017: Medicine (Baltimore)
Stephen Kucera, Stephen N Sullivan
The case of a patient with visceroptosis and Ehlers-Danlos syndrome hypermobility type (RDS-HT) is reported here. The literature on this unusual but probably under-recognized complication is reviewed.
November 8, 2017: Curēus
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
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