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https://www.readbyqxmd.com/read/28346368/pathophysiological-significance-of-dermatan-sulfate-proteoglycans-revealed-by-human-genetic-disorders
#1
REVIEW
Shuji Mizumoto, Tomoki Kosho, Shuhei Yamada, Kazuyuki Sugahara
The indispensable roles of dermatan sulfate-proteoglycans (DS-PGs) have been demonstrated in various biological events including construction of the extracellular matrix and cell signaling through interactions with collagen and transforming growth factor-β, respectively. Defects in the core proteins of DS-PGs such as decorin and biglycan cause congenital stromal dystrophy of the cornea, spondyloepimetaphyseal dysplasia, and Meester-Loeys syndrome. Furthermore, mutations in human genes encoding the glycosyltransferases, epimerases, and sulfotransferases responsible for the biosynthesis of DS chains cause connective tissue disorders including Ehlers-Danlos syndrome and spondyloepimetaphyseal dysplasia with joint laxity characterized by skin hyperextensibility, joint hypermobility, and tissue fragility, and by severe skeletal disorders such as kyphoscoliosis, short trunk, dislocation, and joint laxity...
March 27, 2017: Pharmaceuticals
https://www.readbyqxmd.com/read/28339477/six-degree-of-freedom-knee-joint-kinematics-in-obese-individuals-with-knee-pain-during-gait
#2
Jing-Sheng Li, Tsung-Yuan Tsai, David T Felson, Guoan Li, Cara L Lewis
Knee joint pain is a common symptom in obese individuals and walking is often prescribed as part of management programs. Past studies in obese individuals have focused on standing alignment and kinematics in the sagittal and coronal planes. Investigation of 6 degree-of-freedom (6DOF) knee joint kinematics during standing and gait is important to thoroughly understand knee function in obese individuals with knee pain. This study aimed to investigate the 6DOF knee joint kinematics in standing and during gait in obese patients using a validated fluoroscopic imaging system...
2017: PloS One
https://www.readbyqxmd.com/read/28338524/chronic-boutonniere-deformities-supple-or-stiff-a-new-surgical-technique-with-early-mobilization-in-11-cases
#3
Elodie Dubois, Frederic Teboul, Thomas Bihel, Jean-N Goubier
Injuries to the central slip of the extensor mechanism can lead to a Boutonniere deformity with important functional consequences. We report a series of 11 patients treated by lengthening-dorsalizing the lateral bands and tightening the central slip with early mobilization. The average age of the patients was 42 years (14;52). The extension defect of the proximal interphalangeal (PIP) joint was 64 degrees (80;55) and the hyperextension of the distal interphalangeal joint was 10 degrees (15;5). The surgery was performed with peripheral nerve block (sensitive), allowing dynamic adjustment of the tendinous sutures...
March 23, 2017: Techniques in Hand & Upper Extremity Surgery
https://www.readbyqxmd.com/read/28330579/vertical-ramus-elongation-and-mandibular-advancement-by-endobuccal-approach-presentation-of-a-new-osteotomy-technique
#4
F Grimaud, H Bertin, F Fauvel, P Corre, J-P Perrin
INTRODUCTION: Several surgical procedures have been proposed for the treatment of hyperdivergent dentoskeletal deformities. We propose a new osteotomy technique allowing for lengthening and advancement of the mandibular ramus by intra-oral approach. SURGICAL PROCEDURE: This technique differs from the conventional sagittal split osteotomyin that which the anterior osteotomy line is not continued until the basilar edge but stopped 5-6mm above it. Cutting of the pterygomasseteric sling is systematically done allowing for the lowering of the mandibular angle...
February 2017: J Stomatol Oral Maxillofac Surg
https://www.readbyqxmd.com/read/28306229/the-2017-international-classification-of-the-ehlers-danlos-syndromes
#5
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/28306225/the-ehlers-danlos-syndromes-rare-types
#6
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/28294978/discriminative-features-in-three-autosomal-recessive-cutis-laxa-syndromes-cutis-laxa-iia-cutis-laxa-iib-and-geroderma-osteoplastica
#7
REVIEW
Ariana Kariminejad, Fariba Afroozan, Bita Bozorgmehr, Alireza Ghanadan, Susan Akbaroghli, Hamid Reza Khorram Khorshid, Faezeh Mojahedi, Aria Setoodeh, Abigail Loh, Yu Xuan Tan, Nathalie Escande-Beillard, Fransiska Malfait, Bruno Reversade, Thatjana Gardeitchik, Eva Morava
Cutis laxa is a heterogeneous condition characterized by redundant, sagging, inelastic, and wrinkled skin. The inherited forms of this disease are rare and can have autosomal dominant, autosomal recessive, or X-linked inheritance. Three of the autosomal recessive cutis laxa syndromes, namely cutis laxa IIA (ARCL2A), cutis laxa IIB (ARCL2B), and geroderma osteodysplastica (GO), have very similar clinical features, complicating accurate diagnosis. Individuals with these conditions often present with cutis laxa, progeroid features, and hyperextensible joints...
March 15, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28272092/chest-pain-from-hypermobility-responding-to-physical-therapy-in-an-adolescent
#8
Megan N Nash, Chloe A Liu, Brienna Maestas, Kristine U Layugan, Catherine C Culver, Jennifer King, David Kurahara
Hypermobility syndrome usually causes pain in limbs from extension type injuries. The authors report on a 16-yr-old female adolescent with incapacitating chest pain secondary to extreme hypermobility of the chest. This pain led the patient to see multiple specialists without improvement or diagnosis. Physical examination results revealed a very hypermobile patient who was able to internally rotate her shoulders inward until her elbows touched. This unusual hyperextension maneuver was achieved by holding the shoulders in anteversion with her hands on her hips (see figures in the article)...
March 6, 2017: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/28269401/evaluation-of-a-wrist-orthosis-on-lofstrand-crutch-assisted-gait
#9
Deen Farooq, Omid Jahanian, Brooke A Slavens, Elizabeth T Hsiao-Wecksler
Lofstrand, or forearm, crutches are a common assistive mobility device for those with functional impairments. However, repeated loading of the wrist and palmar region and continual hyperextension of the wrist during Lofstrand crutch usage may cause wrist strain, pain, and secondary injuries such as carpal tunnel syndrome. In order to reduce risk of injury, a novel wrist orthosis was developed with the intent of improving wrist posture and reducing/redirecting palmar loads from the carpal tunnel region to the adductor pollicis area...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28268771/knee-orthosis-with-variable-stiffness-and-damping-that-simulates-hemiparetic-gait
#10
Christina-Anne Lahiff, Tyagi Ramakrishnan, Seok Hun Kim, Kyle Reed
Individuals with unilateral stroke have neuromuscular weakness or paralysis on one side of the body caused by some muscles disengaging and others overexciting. Hyperextension of the knee joint and complete lack of plantar flexion of the ankle joint are common symptoms of stroke. This paper focuses on the creation and implementation of a small, lightweight, and adjustable orthotic device to be positioned around the knee of an able-bodied person to simulate hemiparetic gait. Force and range of motion data from able-bodied subjects fitted with the orthosis, inducing hemiparetic gait, was collected using the Computer Assisted Rehabilitation ENvironment (CAREN) system...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28259272/current-evidence-regarding-diagnostic-imaging-methods-for-pediatric-lumbar-spondylolysis-a-report-from-the-scoliosis-research-society-evidence-based-medicine-committee
#11
Charles G T Ledonio, Douglas C Burton, Charles H Crawford, Robert Shay Bess, Jacob M Buchowski, Serena S Hu, Baron S H Lonner, David W Polly, Justin S Smith, James O Sanders
BACKGROUND: Spondylolysis is common among the pediatric population, yet no formal systematic literature review regarding diagnostic imaging has been performed. The Scoliosis Research Society (SRS) requested an assessment of the current state of peer reviewed evidence regarding pediatric spondylolysis. METHODS: Literature was searched professionally and citations retrieved. Abstracts were reviewed and analyzed by the SRS Evidence-Based Medicine Committee. Level I studies were considered to provide Good Evidence for the clinical question...
March 2017: Spine Deformity
https://www.readbyqxmd.com/read/28255506/spinal-epidural-hematoma-related-to-vertebral-fracture-in-an-atypical-rigid-diffuse-idiopathic-skeletal-hyperostosis-a-case-report
#12
José Ramírez Villaescusa, Marcela Restrepo Pérez, David Ruiz Picazo
INTRODUCTION: Spinal epidural hematoma (SEH) is a rare disease that causes cord compression and neurologic deficit. Spontaneous SEH is related to minor trauma, bleeding disorders, and anticoagulant medications. Posttraumatic SEH has been associated with low-energy spine hyperextension injuries in patients with ankylosing spinal disorders such as ankylosing spondylitis and diffuse idiopathic skeletal hyperostosis (DISH). A variant named atypical DISH-like with SEH is reported. OBJECTIVE: To describe the management, diagnosis, and treatment of an unusual SEH case in a patient causing delayed neurologic deficit with rigid atypical DISH-like spine...
March 2017: Geriatric Orthopaedic Surgery & Rehabilitation
https://www.readbyqxmd.com/read/28255505/odontoid-fracture-in-a-patient-with-diffuse-idiopathic-skeletal-hyperostosis
#13
Adan Omar, Addisu Mesfin
Nonoperative management of fractures in the setting of diffuse idiopathic skeletal hyperostosis (DISH) or ankylosing spondylitis is often unsuccessful. The subaxial spine is a common site of hyperextension fractures in the setting of DISH. Fractures of the upper cervical spine are uncommon in DISH. We report, to our knowledge, the first case describing successful nonoperative management of a type 2 odontoid fracture in a patient with DISH. We discuss the patient's initial presentation, physical examination, imaging findings, and management...
March 2017: Geriatric Orthopaedic Surgery & Rehabilitation
https://www.readbyqxmd.com/read/28238810/defect-in-dermatan-sulfate-in-urine-of-patients-with-ehlers-danlos-syndrome-caused-by-a-chst14-d4st1-deficiency
#14
Shuji Mizumoto, Tomoki Kosho, Atsushi Hatamochi, Tomoko Honda, Tomomi Yamaguchi, Nobuhiko Okamoto, Noriko Miyake, Shuhei Yamada, Kazuyuki Sugahara
PURPOSE: Dermatan sulfate (DS) plays a number of roles in a wide range of biological activities such as cell signaling and tissue morphogenesis through interactions with various extracellular matrix proteins including collagen. Mutations in the carbohydrate sulfotransferase 14 gene (CHST14) encoding CHST14/dermatan 4-O-sulfotransferase-1 (D4ST1), which is responsible for the biosynthesis of DS, cause a recently delineated form of Ehlers-Danlos syndrome (EDS, musculocontractural type 1), an autosomal recessive connective tissue disorder characterized by congenital malformations (specific craniofacial features, and congenital multiple contractures) and progressive fragility-related complications (skin hyperextensibility, bruisability, and fragility with atrophic scars; recurrent dislocations; progressive talipes or spinal deformities; and large subcutaneous hematomas)...
February 23, 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/28227644/evaluation-of-a-wrist-orthosis-on-lofstrand-crutch-assisted-gait
#15
Deen Farooq, Omid Jahanian, Brooke A Slavens, Elizabeth T Hsiao-Wecksler, Deen Farooq, Omid Jahanian, Brooke A Slavens, Elizabeth T Hsiao-Wecksler
Lofstrand, or forearm, crutches are a common assistive mobility device for those with functional impairments. However, repeated loading of the wrist and palmar region and continual hyperextension of the wrist during Lofstrand crutch usage may cause wrist strain, pain, and secondary injuries such as carpal tunnel syndrome. In order to reduce risk of injury, a novel wrist orthosis was developed with the intent of improving wrist posture and reducing/redirecting palmar loads from the carpal tunnel region to the adductor pollicis area...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28226961/knee-orthosis-with-variable-stiffness-and-damping-that-simulates-hemiparetic-gait
#16
Christina-Anne Lahiff, Tyagi Ramakrishnan, Seok Hun Kim, Kyle Reed, Christina-Anne Lahiff, Tyagi Ramakrishnan, Seok Hun Kim, Kyle Reed, Christina-Anne Lahiff, Kyle Reed, Tyagi Ramakrishnan, Seok Hun Kim
Individuals with unilateral stroke have neuromuscular weakness or paralysis on one side of the body caused by some muscles disengaging and others overexciting. Hyperextension of the knee joint and complete lack of plantar flexion of the ankle joint are common symptoms of stroke. This paper focuses on the creation and implementation of a small, lightweight, and adjustable orthotic device to be positioned around the knee of an able-bodied person to simulate hemiparetic gait. Force and range of motion data from able-bodied subjects fitted with the orthosis, inducing hemiparetic gait, was collected using the Computer Assisted Rehabilitation ENvironment (CAREN) system...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28224297/fracture-reduction-by-postoperative-mobilisation-for-the-treatment-of-hyperextension-injuries-of-the-thoracolumbar-spine-in-patients-with-ankylosing-spinal-disorders
#17
Richard A Lindtner, Christian Kammerlander, Michael Goetzen, Alexander Keiler, Davud Malekzadeh, Dietmar Krappinger, Rene Schmid
INTRODUCTION: The aim of this study was to evaluate results of surgical stabilisation of hyperextension injuries of the thoracolumbar spine in patients with ankylosing spinal disorders using two different treatment strategies: the conventional open rigid posterior instrumentation and percutaneous less rigid posterior instrumentation. Surgical and non-surgical complications, the postoperative radiological course, and clinical outcome at final follow-up were comparatively assessed. Moreover, we sought to discuss important biomechanical and surgical aspects specific to posterior instrumentation of the ankylosed thoracolumbar spine as well as to elaborate on the advantages and limitations of the proposed new treatment strategy involving percutaneous less rigid stabilisation and fracture reduction by postoperative mobilisation...
February 21, 2017: Archives of Orthopaedic and Trauma Surgery
https://www.readbyqxmd.com/read/28210528/atraumatic-spinal-cord-injury-in-the-novice-surfer-a-comprehensive-review-and-update
#18
Christian Swinney, David Flick, Moses Cheng
Novice surfers are at risk for a rare but potentially devastating form of atraumatic myelopathy. There are 16 published studies on this condition, including 66 cases. The most common suggested mechanism of injury is static hyperextension. However, active mechanisms, in contrast to static, have also been proposed and may be contributory. First time surfers, defined as those who have never been on a surfboard prior to the day of injury, are at particular risk. These individuals make up 89.5%-100% of the reported novice surfers found in the various reports...
February 2017: Hawai'i Journal of Medicine & Public Health: a Journal of Asia Pacific Medicine & Public Health
https://www.readbyqxmd.com/read/28205540/anatomical-characteristics-and-biomechanical-properties-of-the-oblique-popliteal-ligament
#19
Xiang-Dong Wu, Jin-Hui Yu, Tao Zou, Wei Wang, Robert F LaPrade, Wei Huang, Shan-Quan Sun
This anatomical study sought to investigate the morphological characteristics and biomechanical properties of the oblique popliteal ligament (OPL). Embalmed cadaveric knees were used for the study. The OPL and its surrounding structures were dissected; its morphology was carefully observed, analyzed and measured; its biomechanical properties were investigated. The origins and insertions of the OPL were relatively similar, but its overall shape was variable. The OPL had two origins: one originated from the posterior surface of the posteromedial tibia condyle, merged with fibers from the semimembranosus tendon, the other originated from the posteromedial part of the capsule...
February 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28167875/locking-plate-arthrodesis-compares-favorably-with-lrti-for-thumb-trapeziometacarpal-arthrosis-early-outcomes-from-a-longitudinal-cohort-study
#20
Nikolas H Kazmers, K J Hippensteel, Ryan P Calfee, Lindley B Wall, Martin I Boyer, Charles A Goldfarb, Richard H Gelberman, Daniel A Osei
BACKGROUND: Trapeziometacarpal arthrodesis (TMA) has been complicated by nonunion and hardware failure. QUESTIONS/PURPOSES: We hypothesized that modification of the TMA technique with a locking cage plate construct would afford reliable bony union while producing greater hand function than trapeziectomy with ligament reconstruction and tendon interposition (LRTI) at early follow-up. METHODS: We enrolled 36 consecutive patients with trapeziometacapal osteoarthritis (14 TMA patients (15 thumbs), 22 LRTI patients (22 thumbs))...
February 2017: HSS Journal: the Musculoskeletal Journal of Hospital for Special Surgery
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