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https://www.readbyqxmd.com/read/28734943/deficits-in-col5a2-expression-result-in-novel-skin-and-adipose-abnormalities-and-predisposition-to-aortic-aneurysms-and-dissections
#1
Arick C Park, Noel Phan, Dawiyat Massoudi, Zhenjie Liu, John F Kernien, Sheila M Adams, Jeffrey M Davidson, David E Birk, Bo Liu, Daniel S Greenspan
Classic Ehlers-Danlos syndrome (cEDS) is characterized by fragile, hyperextensible skin and hypermobile joints. cEDS can be caused by heterozygosity for missense mutations in genes COL5A2 and COL5A1, which encode the α2(V) and α1(V) chains, respectively, of collagen V, and is most often caused by COL5A1 null alleles. However, COL5A2 null alleles have yet to be associated with cEDS or other human pathologies. We previously showed that mice homozygous null for the α2(V) gene Col5a2 are early embryonic lethal, whereas haploinsufficiency caused aberrancies of adult skin, but not a frank cEDS-like phenotype, as skin hyperextensibility at low strain and dermal "cauliflower"-contoured collagen fibril aggregates, two cEDS hallmarks, were absent...
July 19, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28727128/transvaginal-six-arm-mesh-opur-in-women-with-apical-pelvic-organ-prolapse-analysis-of-short-term-results-pelvic-floor-ultrasound-evaluation
#2
Tomasz Kluz, Edyta Wlaźlak, Grzegorz Surkont
OBJECTIVES: Analysis of feasibility, efficacy and short-term results after six-arm transvaginal mesh OPUR implantation in women with apical prolapse. MATERIAL AND METHODS: The same surgeon operated all of 39 women using mesh OPUR. Preoperatively patients had a standardized interview and clinical examination. Intraoperative and postoperative complications were analyzed. Postoperative evaluation included standardized interview, clinical examination and standardized pelvic floor ultrasound performed with 2D transvaginal probe and 4D abdominal probe...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/28697310/hypermobile-pulsatile-eardrum-attributable-to-temporal-bone-metastasis
#3
Chee-Yee Lee, Chung-Feng Hwang
No abstract text is available yet for this article.
July 1, 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28599980/generalized-hypermobility-knee-hyperextension-and-outcomes-after-anterior-cruciate-ligament-reconstruction-prospective-case-control-study-with-mean-6%C3%A2-years-follow-up
#4
Christopher M Larson, Asheesh Bedi, Mark E Dietrich, Jennifer C Swaringen, Corey A Wulf, David M Rowley, M Russell Giveans
PURPOSE: To determine whether generalized hypermobility and contralateral knee hyperextension affect failure rates and patient-related outcomes after anterior cruciate ligament reconstruction (ACLR). METHODS: A total of 226 consecutive patients presenting with acute ACL tears were prospectively evaluated for generalized hypermobility by a modified Beighton criteria. Minimum 2-year follow-up was achieved for 183 knees (81%). Patients underwent ACLR with either bone-patellar-tendon (BPTB) autograft (n = 46), quadrupled hamstring (HT) autograft (n = 85), or allograft tissue (n = 52)...
June 6, 2017: Arthroscopy: the Journal of Arthroscopic & related Surgery
https://www.readbyqxmd.com/read/28535850/eyes-closed-single-limb-balance-is-not-related-to-hypermobility-status-in-dancers
#5
Tiffany A Marulli, Lindsay E Harmon-Matthews, J Hope Davis-Coen, Nienke W Willigenburg, Timothy E Hewett
Hypermobility may be associated with decreased lower extremity proprioception, which in turn may increase injury risk. The prevalence of hypermobility in dancers varies across studies, but joint hypermobility appears to be more common in dancers than in the general population. The purpose of this study was to determine how hypermobility affects eyes-closed single-limb balance as an indirect measure of proprioception in dancers. The secondary aim was to compare hypermobility and balance across dancer affiliation groups...
June 15, 2017: Journal of Dance Medicine & Science
https://www.readbyqxmd.com/read/28525346/the-dilemma-in-treatment-of-hemodialysis-patients-with-catheter-induced-right-atrial-thrombi-crat-a-case-report
#6
Zahra Ansari Aval, Ramin Baghaei, Isa Khaheshi, Aida Alavi-Moghaddam
Catheter -induced right atrial thrombi (CRAT) is a serious complication of central venous catheterization. Herein we report a case of large hypermobile right atrial thrombi in a 57- year-old man with hemodialysis catheter in right internal jugular vein.
May 13, 2017: Romanian Journal of Internal Medicine, Revue Roumaine de Médecine Interne
https://www.readbyqxmd.com/read/28503290/use-of-the-suprapatellar-approach-in-intramedullary-nailing-of-a-multi-fragmentary-dislocated-tibia-fracture-with-a-hypermobile-intermediate-fragment-in-a-young-patient
#7
Patrick Haubruck, Ulf Brunnemer, Arash Moghaddam, Gerhard Schmidmaier
A case of an adolescent female patient who suffered from first grade open multi-fragment fracture of the tibia (AO42-C2) with a large hypermobile intermediate fragment is presented in this case report. Intramedullary nailing of the tibia remains the treatment of choice despite a high risk of malformation and anterior knee pain especially in multi-fragment fractures. Here the suprapatellar approach as a semiextended nailing technique seems favorable. The specialty in our case was an early change of procedures necessary due to persistent swelling during external fixation based on the hypermobile intermediate fragment...
November 17, 2016: Orthopedic Reviews
https://www.readbyqxmd.com/read/28501824/the-vanishing-duodenal-polyp-mesenteric-invagination-presenting-as-duodenal-pseudopolyp
#8
Bernadette S de Bakker, Saffire S K S Phoa, Mohammed Kara, Sabaa Al-Eryani, Marieke E Gielen, Cyriel I J Ponsioen, Henri M de Bakker, Thomas M van Gulik
Duodenal polypoid masses are an uncommon finding mainly diagnosed incidentally at endoscopy or surgery. We report a 39-year-old female patient with symptoms of intermittent stabbing pain in the upper right abdominal quadrant and an iron deficiency anaemia, without complaints of weight loss, haematemesis or melaena. A duodenal polyp and acute duodenitis have been described during endoscopic examinations and CT and ultrasound. Surgical excision of the polyp was advised. Intraoperatively, an elongated duodenum was remarkable; however, at duodenotomy, no polyp was found, nor during intraoperative endoscopy...
May 13, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28451620/generalized-joint-hypermobility-is-predictive-of-hip-capsular-thickness
#9
Brian M Devitt, Bjorn N Smith, Robert Stapf, Mark Tacey, John M O'Donnell
BACKGROUND: The pathomechanics of hip microinstability are not clearly defined but are thought to involve anatomical abnormalities, repetitive forces across the hip, and ligamentous laxity. PURPOSE/HYPOTHESIS: The purpose of this study was to explore the relationship between generalized joint hypermobility (GJH) and hip capsular thickness. The hypothesis was that GJH would be predictive of a thin hip capsule. STUDY DESIGN: Cross-sectional study; Level of evidence, 3...
April 2017: Orthopaedic Journal of Sports Medicine
https://www.readbyqxmd.com/read/28436618/natural-history-of-aortic-root-dilation-through-young-adulthood-in-a-hypermobile-ehlers-danlos-syndrome-cohort
#10
Alyssa Ritter, Carrie Atzinger, Brandon Hays, Jeanne James, Amy Shikany, Derek Neilson, Lisa Martin, Kathryn Nicole Weaver
Hypermobile Ehlers-Danlos syndrome (hEDS) is a common inherited connective tissue disorder characterized by joint hypermobility. The natural history of aortic root dilation (AoD), a potential complication of EDS, has not been well characterized in this population. We describe the natural history of aortic root size in a large cohort of patients with hEDS. A cohort of 325 patients with HEDS was identified at Cincinnati Children's Hospital Medical Center (CCHMC), including 163 patients from a previous study. Medical records were reviewed and each participant's height, weight, and aortic dimensions from up to four echocardiograms were documented...
June 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28385908/isolated-brachydactyly-type-e-and-idiopathic-pancreatitis-in-a-patient-presenting-to-a-lipid-disorders-clinic
#11
Michael M Page, Amanda J Hooper, Paul Glendenning, John R Burnett
An 18-year-old female tertiary student was referred to a lipid clinic with hypertriglyceridaemia discovered after presentation with acute pancreatitis. The patient's only medication was l-thyroxine for treatment of hypothyroidism. She was overweight, normotensive, with unremarkable facies. However, she had hypermobile hand joints and brachydactyly resulting in loss of left 3-5 and right 4 and 5 knuckle definitions. Radiography revealed shortening of metacarpals 3-5 on the left and 4 and 5 on the right. Her mother had similar skeletal changes, consistent with a dominant mode of inheritance...
April 6, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28381270/a-rare-diaphragmatic-ureteral-herniation-case-report-endoscopic-and-open-reconstructive-management
#12
Frank C Lin, Jamie S Lin, Samuel Kim, Jonathan R Walker
BACKGROUND: Ureteral herniations are a rare occurrence, generally found incidentally on cross sectional imaging or during surgical intervention for unrelated processes. Several locations of ureteral herniations can occur including the inguinal, femoral, sciatic, obturator, and thoracic regions. While few reports of ureteral hernias are reported in the literature overall, the vast majority of those reported are inguinoscrotal herniations found during evaluation and treatment of inguinal hernias...
April 5, 2017: BMC Urology
https://www.readbyqxmd.com/read/28362036/hypermobile-laryngeal-granulomas-a-potential-cause-of-false-negative-cuff-leak-test
#13
Ankur Khandelwal, Bhagya Ranjan Jena, Niraj Kumar, Ashutosh Kaushal
No abstract text is available yet for this article.
2017: Anaesthesiology Intensive Therapy
https://www.readbyqxmd.com/read/28306231/cover-image-volume-175c-number-1-march-2017
#14
(no author information available yet)
The cover image, by Brad Tinkle et al., is based on the Research Article Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history, DOI: 10.1002/ajmg.c.31538.
March 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28306230/the-evidence-based-rationale-for-physical-therapy-treatment-of-children-adolescents-and-adults-diagnosed-with-joint-hypermobility-syndrome-hypermobile-ehlers-danlos-syndrome
#15
Raoul H H Engelbert, Birgit Juul-Kristensen, Verity Pacey, Inge de Wandele, Sandy Smeenk, Nicoleta Woinarosky, Stephanie Sabo, Mark C Scheper, Leslie Russek, Jane V Simmonds
New insights into the phenotype of Joint Hypermobility Syndrome (JHS) and Ehlers-Danlos Syndrome-hypermobile type (hEDS) have raised many issues in relation to classification, diagnosis, assessment, and treatment. Within the multidisciplinary team, physical therapy plays a central role in management of individuals with hypermobility related disorders. However, many physical therapists are not familiar with the diagnostic criteria, prevalence, common clinical presentation, and management. This guideline aims to provide practitioners with the state of the art regarding the assessment and management of children, adolescents, and adults with JHS/hEDS...
March 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28306229/the-2017-international-classification-of-the-ehlers-danlos-syndromes
#16
Fransiska Malfait, Clair Francomano, Peter Byers, John Belmont, Britta Berglund, James Black, Lara Bloom, Jessica M Bowen, Angela F Brady, Nigel P Burrows, Marco Castori, Helen Cohen, Marina Colombi, Serwet Demirdas, Julie De Backer, Anne De Paepe, Sylvie Fournel-Gigleux, Michael Frank, Neeti Ghali, Cecilia Giunta, Rodney Grahame, Alan Hakim, Xavier Jeunemaitre, Diana Johnson, Birgit Juul-Kristensen, Ines Kapferer-Seebacher, Hanadi Kazkaz, Tomoki Kosho, Mark E Lavallee, Howard Levy, Roberto Mendoza-Londono, Melanie Pepin, F Michael Pope, Eyal Reinstein, Leema Robert, Marianne Rohrbach, Lynn Sanders, Glenda J Sobey, Tim Van Damme, Anthony Vandersteen, Caroline van Mourik, Nicol Voermans, Nigel Wheeldon, Johannes Zschocke, Brad Tinkle
The Ehlers-Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Over the past two decades, the Villefranche Nosology, which delineated six subtypes, has been widely used as the standard for clinical diagnosis of EDS. For most of these subtypes, mutations had been identified in collagen-encoding genes, or in genes encoding collagen-modifying enzymes. Since its publication in 1998, a whole spectrum of novel EDS subtypes has been described, and mutations have been identified in an array of novel genes...
March 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28306227/the-international-consortium-on-the-ehlers-danlos-syndromes
#17
Lara Bloom, Peter Byers, Clair Francomano, Brad Tinkle, Fransiska Malfait
Since 1998, two developments have led to concerns that the EDS nosology needs to be substantially revised. The first development was the clinical and molecular characterization of several new EDS variants, which substantially broadened the molecular basis underlying EDS. The second was the growing concern, in the absence of genetic diagnosis, that the hypermobile type of EDS had an expanded phenotype, may be genetically heterogeneous, and that the diagnostic criteria currently in use were inadequate. Furthermore, there is a dire need for the development of guidelines for management for each type of EDS to allow both the specialist and the generalist to care for affected individuals and their families...
March 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28306225/the-ehlers-danlos-syndromes-rare-types
#18
REVIEW
Angela F Brady, Serwet Demirdas, Sylvie Fournel-Gigleux, Neeti Ghali, Cecilia Giunta, Ines Kapferer-Seebacher, Tomoki Kosho, Roberto Mendoza-Londono, Michael F Pope, Marianne Rohrbach, Tim Van Damme, Anthony Vandersteen, Caroline van Mourik, Nicol Voermans, Johannes Zschocke, Fransiska Malfait
The Ehlers-Danlos syndromes comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders, which are characterized by joint hypermobility, skin hyperextensibility, and tissue friability. In the Villefranche Nosology, six subtypes were recognized: The classical, hypermobile, vascular, kyphoscoliotic, arthrochalasis, and dermatosparaxis subtypes of EDS. Except for the hypermobile subtype, defects had been identified in fibrillar collagens or in collagen-modifying enzymes. Since 1997, a whole spectrum of novel, clinically overlapping, rare EDS-variants have been delineated and genetic defects have been identified in an array of other extracellular matrix genes...
March 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28293451/investigation-of-joint-hypermobility-in-individuals-with-hyperbilirubinemia
#19
Muhammet Çınar, Mustafa Çakar, Kadir Öztürk, İbrahim Çetindağlı, Sedat Yılmaz, Ayhan Dinç
OBJECTIVE: Benign joint hypermobility syndrome refers to hypermobile individuals with musculoskeletal symptoms in the absence of any systemic rheumatic disease; its prevalence is approximately 0.5%. In animal studies, bilirubin has been shown to reduce fibrosis induced by bleomycin. It has been suggested that bilirubin leads to hypermobility that affects the structure or function of collagen. In addition, our observation is that hypermobility occurs more often in patients with indirect hyperbilirubinemia...
March 2017: European Journal of Rheumatology
https://www.readbyqxmd.com/read/28283176/usefulness-of-the-prenatal-echocardiogram-in-fetuses-with-isolated-transposition-of-the-great-arteries-to-predict-the-need-for-balloon-atrial-septostomy
#20
Trisha V Vigneswaran, Vita Zidere, Owen I Miller, John M Simpson, Gurleen K Sharland
The outcome of the arterial switch operation for transposition of the great arteries (TGA) is excellent, but there is still associated preoperative mortality. Hypoxemia due to inadequate mixing of the pulmonary and systemic circulations may be implicated. Prediction of early hypoxemia by prenatal echocardiographic criteria has proved difficult. We aimed to identify prenatal echocardiographic features that may predict the need for emergency balloon atrial septostomy (BAS) in isolated TGA. Third trimester fetal echocardiograms of the last 40 cases of isolated TGA were reviewed without knowledge of the postnatal outcome...
May 1, 2017: American Journal of Cardiology
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