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Hyperextensibility

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https://www.readbyqxmd.com/read/28436160/compound-heterozygous-mutations-in-col1a1-associated-with-an-atypical-form-of-type-i-osteogenesis-imperfecta
#1
Amanda M Ackermann, Michael A Levine
Heterozygous mutations in the genes encoding the proα1(I) or proα2(I) chains of type I procollagen (COL1A1 and COL1A2, respectively) account for most cases of osteogenesis imperfecta (OI), a disorder characterized by reduced bone strength and increased fracture risk. COL1A1 mutations can also cause rare cases of Ehlers-Danlos syndrome (EDS), a disorder that primarily affects connective tissue and often includes reduced bone mass. Here we present a kindred of three young siblings ages 1-4 years old whose mother has a history of mild type I OI...
April 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28435580/first-and-second-metatarsophalangeal-joint-open-dislocations-a-case-report
#2
A Sharma, R Dosajh, G S Bedi, K Gupta, A Jain
Dislocation of multiple metatarsophalangeal joint is an uncommon injury. The mechanism of injury is a high energy force distal to proximal with foot in hyperextension at the metatarsophalangeal (MTP) joint. The acute hyperextension of the toe at the moment of injury causes avulsion of the plantar part of the capsule from the junction of head and neck of the metatarsal. If the collateral ligaments remain intact, they maintain the locked fibrocartilaginous plate over the dorsum of the head of the metatarsal, making closed reduction impossible...
March 2017: Malaysian Orthopaedic Journal
https://www.readbyqxmd.com/read/28434217/bilateral-hypoplasia-of-the-medial-and-lateral-menisci
#3
Yoon-Seok Youm, Sung-Do Cho, Hye-Yong Cho, Tae-Wook Kang
Hypoplasia of the meniscus is a very rare congenital abnormality, with only a few cases reported to date. A 9-year-old girl visited our hospital due to lateral knee pain following a hyperextension injury to the left knee. Magnetic resonance imaging showed hypoplasia of the medial and lateral menisci, as well as a posterior horn tear of the lateral meniscus, in both knee joints. To our knowledge, this is the first report of a patient with hypoplasia of the medial and lateral menisci in both knee joints.
April 25, 2017: Knee Surgery & related Research
https://www.readbyqxmd.com/read/28422173/critical-involvement-of-zeb2-in-collagen-fibrillogenesis-the-molecular-similarity-between-mowat-wilson-syndrome-and-ehlers-danlos-syndrome
#4
Mika Teraishi, Mikiro Takaishi, Kimiko Nakajima, Mitsunori Ikeda, Yujiro Higashi, Shinji Shimoda, Yoshinobu Asada, Atsushi Hijikata, Osamu Ohara, Yoko Hiraki, Seiji Mizuno, Toshiyuki Fukada, Takahisa Furukawa, Nobuaki Wakamatsu, Shigetoshi Sano
Mowat-Wilson syndrome (MOWS) is a congenital disease caused by de novo heterozygous loss of function mutations or deletions of the ZEB2 gene. MOWS patients show multiple anomalies including intellectual disability, a distinctive facial appearance, microcephaly, congenital heart defects and Hirschsprung disease. However, the skin manifestation(s) of patients with MOWS has not been documented in detail. Here, we recognized that MOWS patients exhibit many Ehlers-Danlos syndrome (EDS)-like symptoms, such as skin hyperextensibility, atrophic scars and joint hypermobility...
April 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28403495/-diagnosis-and-therapeutic-management-in-kidney-ureter-and-bladder-trauma
#5
Karin Hirsch, Marco Heinz, Bernd Wullich
Trauma refers to the destruction of tissues or organs by external forces and it is the most common cause of mortality and morbidity in children (1, 2). Injuries of the genitourinary tract may be the result of blunt (falls, sport injuries, motor vehicle accidents and sexual abuse) or penetrating (stab wounds, gun shots, falling onto sharp objects) injuries. The genitourinary tract is significantly injured in 2.9% of paediatric trauma patients 4.In the paediatric population, the kidney is the most affected organ in the genitourinary tract (>60% of all genitourinary tract injuries) 4...
February 2017: Aktuelle Urologie
https://www.readbyqxmd.com/read/28401820/-a-man-with-a-curved-deformity-of-the-hand
#6
E M van Soest, G J de Jong, L Korswagen
A 63-year-old male was seen at the rheumatology outpatient clinic because of a curved deformity of his left hand, with fixed flexion of the MCP joints and hyperextension of the PIP and DIP joints. This so-called striatal hand, a feature of Parkinson's disease, can easily be confused with rheumatoid arthritis or Dupuytren's contracture.
2017: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/28399553/rectus-capitis-posterior-minor-histological-and-biomechanical-links-to-the-spinal-dura-mater
#7
Gabriel Venne, Brian J Rasquinha, Manuela Kunz, Randy E Ellis
STUDY DESIGN: Serial histological investigation was performed on 10 cadaveric specimens and biomechanical tests were performed on five specimens, both focused on the tissue connexion between the rectus capitis posterior minor (RCPMi) and the spinal dura. OBJECTIVE: This study had two components: to clarify the microscopic structure of the tissue link between RCPMi and the dura mater, and to evaluate the mechanical role of this tissue complex. SUMMARY OF BACKGROUND DATA: Dissection-based and imaging-based reports have suggested a connective tissue link between the RCPMi and the dura mater at the posterior-atlanto-occipital (PAO) level...
April 15, 2017: Spine
https://www.readbyqxmd.com/read/28394776/correlation-analysis-between-modic-change-of-cervical-vertebrae-and-intramedullary-high-signal-intensity
#8
Hao Zhou, Jin Fan, Peng Sun, Wei Zhou, Qingqing Li, Lipeng Yu, Guoyong Yin
PURPOSE: Clinical studies have shown that endplate Modic change in the cervical spine and intramedullary high signal intensity often occurs simultaneously. We aimed to investigate whether there is a correlation between Modic change and intramedullary high signal intensity, and to explore the possible risk factors. MATERIALS AND METHODS: In total, 133 patients with cervical spondylotic myelopathy treated at the First Affiliated Hospital of Nanjing Medical University between May 2009 and March 2013 were enrolled in the study...
April 7, 2017: Clinical Spine Surgery
https://www.readbyqxmd.com/read/28387435/collagen-v-haploinsufficiency-in-a-murine-model-of-classic-ehlers-danlos-syndrome-is-associated-with-deficient-structural-and-mechanical-healing-in-tendons
#9
Jessica M Johnston, Brianne K Connizzo, Snehal S Shetye, Kelsey A Robinson, Julianne Huegel, Ashley B Rodriguez, Mei Sun, Sheila M Adams, David E Birk, Louis J Soslowsky
Classic Ehlers-Danlos syndrome (EDS) patients suffer from connective tissue hyperelasticity, joint instability, skin hyperextensibility, tissue fragility, and poor wound healing due to heterozygous mutations in COL5a1 or COL5a2 genes. This study investigated the roles of collagen V in establishing structure and function in uninjured patellar tendons as well as in the injury response using a Col5a1(+/-) mouse, a model for classic EDS. These analyses were done comparing tendons from a classic EDS model (Col5a1(+/-) ) with wild-type controls...
April 7, 2017: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
https://www.readbyqxmd.com/read/28386937/a-recognizable-systemic-connective-tissue-disorder-with-polyvalvular-heart-dystrophy-and-dysmorphism-associated-with-tab2-mutations
#10
Marco Ritelli, Silvia Morlino, Edoardo Giacopuzzi, Laura Bernardini, Barbara Torres, Graziano Santoro, Viola Ravasio, Nicola Chiarelli, Daniela D'Angelantonio, Antonio Novelli, Paola Grammatico, Marina Colombi, Marco Castori
Deletions encompassing TAK1-binding protein 2 (TAB2) associate with isolated and syndromic congenital heart defects. Rare missense variants are found in patients with a similar phenotype as well as in a single individual with frontometaphyseal dysplasia. We describe a family and an additional sporadic patient with polyvalvular heart disease, generalized joint hypermobility and related musculoskeletal complications, soft, velvety and hyperextensible skin, short limbs, hearing impairment, and facial dysmorphism...
April 6, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28382219/surfer-s-myelopathy-without-surfing-a-report-of-two-pediatric-patients
#11
Ana C Albuja, Sharoon Qaiser, Donita D Lightner, Flavius D Raslau, Muhammad S Zafar, Philip A Bernard, Robert J Baumann
INTRODUCTION: Surfer's myelopathy (SM) is a rare disorder described in subjects presenting with acute paraparesis while learning how to surf. It is thought to be secondary to spinal ischemia triggered by hyperextension. Spinal magnetic resonance imaging (MRI) shows changes consistent with spinal cord ischemia on T2-weighted and diffusion-weighted imaging (DWI). CASE PRESENTATION: We report two patients who presented with acute onset paraplegia shortly after spinal hyperextension...
2017: Spinal Cord Series and Cases
https://www.readbyqxmd.com/read/28346368/pathophysiological-significance-of-dermatan-sulfate-proteoglycans-revealed-by-human-genetic-disorders
#12
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
#13
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
#14
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
#15
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: Journal of Stomatology, Oral and Maxillofacial Surgery
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/28306225/the-ehlers-danlos-syndromes-rare-types
#17
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
#18
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
#19
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
#20
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
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