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https://www.readbyqxmd.com/read/29329488/genetic-and-molecular-insights-into-genotype-phenotype-relationships-in-osteopathia-striata-with-cranial-sclerosis-oscs-through-the-analysis-of-novel-mouse-wtx-mutant-alleles
#1
Glenda Comai, Agnès Boutet, Kristina Tanneberger, Filippo Massa, Ana-Sofia Rocha, Aurelie Charlet, Clara Panzolini, Fariba Jian Motamedi, Robert Brommage, Wolfgang Hans, Thomas Funck-Brentano, Martin Hrabe de Angelis, Christine Hartmann, Martine Cohen-Solal, Jürgen Behrens, Andreas Schedl
The X-linked WTX/AMER1 protein forms an important component of the β-catenin destruction complex that can both enhance and suppress canonical β-catenin signalling. Somatic mutations in WTX/AMER1 have been found in a proportion of the pediatric kidney cancer Wilms' tumour. By contrast, germline mutations cause the severe sclerosing bone dysplasia osteopathia striata congenita with cranial sclerosis (OSCS), a condition usually associated with fetal or perinatal lethality in male patients. Here we addressed the developmental and molecular function of WTX by generating two novel mouse alleles...
January 12, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29315039/distal-tibiofibular-synostosis-following-non-operative-treatment-of-ankle-fractures
#2
Hosam E Matar, Rajiv Sanger
No abstract text is available yet for this article.
January 2, 2018: British Journal of Hospital Medicine
https://www.readbyqxmd.com/read/29314551/a-novel-pathogenic-myh3-mutation-in-a-child-with-sheldon-hall-syndrome-and-vertebral-fusions
#3
Marcello Scala, Andrea Accogli, Elisa De Grandis, Anna Allegri, Christoph P Bagowski, Moneef Shoukier, Mohamad Maghnie, Valeria Capra
Sheldon-Hall syndrome (SHS) is the most common of the distal arthrogryposes (DAs), a group of disorders characterized by congenital non-progressive contractures. Patients with SHS present with contractures of the limbs and a distinctive triangular facies with prominent nasolabial folds. Calcaneovalgus deformity is frequent, as well as camptodactyly and ulnar deviation. Causative mutations in at least four different genes have been reported (MYH3, TNNI2, TPM2, and TNNT3). MYH3 plays a pivotal role in fetal muscle development and mutations in this gene are associated with Freeman-Sheldon syndrome, distal arthrogryposis 8 (DA8), and autosomal dominant spondylocarpotarsal synostosis...
January 5, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29307033/centile-charts-for-cranial-sutures-in-children-younger-than-1-year-based-on-ultrasound-measurements
#4
Katya Rozovsky, Nicholas James Barrowman, Elka Miller
BACKGROUND: Cranial US allows for the evaluation of premature closure (synostosis) or abnormal widening of the cranial sutures. An understanding of the normal anatomy is required to help define the presence or absence of abnormality. OBJECTIVE: To provide reference for normal ultrasound measurements of cranial sutures during the child's first year. MATERIALS AND METHODS: We included children ages 0 to 12 months who were referred to the hospital during 2011-2013 for radiographic evaluation of cranial sutures...
January 6, 2018: Pediatric Radiology
https://www.readbyqxmd.com/read/29290519/reduced-intercarotid-artery-distance-in-syndromic-and-isolated-brachycephaly
#5
Reza Assadsangabi, Mehrdad Hajmomenian, Seyed Ali Nabavizadeh, James Eric Schmitt, Arastoo Vossough
INTRODUCTION: The morphology of the skull base can be altered in craniosynostoses. The objective of this study is to evaluate the reduced intercarotid artery distance in the lacerum segment in patients with syndromic and isolated brachycephaly. MATERIALS AND METHODS: The distances between the inner walls of the carotid canal at the lacerum segment were measured on high-resolution CT scans in children with Crouzon (25), Pfeiffer (21), Apert (26), Saethre-Chotzen (7) syndromes, isolated bicoronal synostosis (9), and compared to an age-matched control group (30)...
October 9, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/29289577/longitudinal-serum-and-urine-steroid-metabolite-profiling-in-a-46-xy-infant-with-prenatally-identified-por-deficiency
#6
Hiroyuki Ono, Chikahiko Numakura, Keiko Homma, Tomonobu Hasegawa, Seiji Tsutsumi, Fumiko Kato, Yasuko Fujisawa, Maki Fukami, Tsutomu Ogata
Although POR deficiency (PORD) is assumed to be accompanied by excessive placental androgen accumulation and enhanced adrenal and testicular androgen production via the backdoor pathway as well as compromised testicular androgen production via the frontdoor pathway, there is no direct evidence for the flux of excessive placental androgens into the fetal circulation and for the production of dihydrotestosterone (DHT) via the backdoor pathway. We examined longitudinal serum and urine steroid metabolite profiles in a 46,XY infant with PORD who was prenatally identified because of the progressive fetal masculinization and maternal virilization from the mid-gestation and the presence of fetal radio-humeral synostosis and was confirmed to have compound heterozygous mutations of POR (p...
December 28, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/29261518/surgical-treatment-of-unicoronal-synostosis-a-simplified-technique-without-orbital-osteotomy
#7
Abdoljalil Kalantar Hormozi, Amir Daryani, Alireza Zali, Hasan Reza Mohammadi, Reza Shahverediani, Mehdi Eskandarloo
BACKGROUND: Although referrals for nonsyndromic frontal plagiocephaly have been increased during the past several years, successful surgical repair of unicoronal synostosis (UCS) remains a challenge for craniofacial surgeons. Most surgical techniques followed to correct supraorbital rim elevation and temporal constrictions are being noticed less and often require a secondary revision. But this new technique consists of correcting the affected ipsilateral frontal, temporal, and superior orbital rim areas in the first operation...
January 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29244670/kienb%C3%A3-ck-disease-in-a-patient-with-congenital-synostosis-of-the-lunate-and-the-triquetrum-a-case-report
#8
Elissa S Finkler, Terry R Light
CASE: We describe the case of a 40-year-old man with Minnaar type-III congenital synostosis of the lunate and the triquetrum who presented with Lichtman stage-I Kienböck disease. Surgical treatment consisted of capitate shortening with a capitate-hamate fusion. CONCLUSION: This case demonstrates the tenuous regional nature of the vascularity to the lunate, even in the setting of a complete lunotriquetral synostosis.
April 2017: JBJS Case Connector
https://www.readbyqxmd.com/read/29227405/osseous-convexity-at-the-anterior-fontanelle-a-presentation-of-metopic-fusion
#9
Alexander Haosi Sun, John A Persing
BACKGROUND: Craniosynostosis, or a premature fusion of 1 or more cranial vault sutures, results in characteristic head shape deformities. In previous reports, an osseous prominence at the anterior fontanelle has been suggestive of adjacent suture fusion and local elevation in intracranial pressure (ICP). This prominence has been termed the "volcano" sign, and has been described in the anterior fusion of the sagittal suture and serves as an indication for surgery. METHODS: Two patients presented for head shape evaluation with mild metopic ridging and anterior fontanellar osseous convexities consistent with the volcano sign...
December 7, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29200488/a-newly-designed-intramedullary-nail-for-the-treatment-of-diaphyseal-forearm-fractures-in-adults
#10
Ibrahim Azboy, Abdullah Demirtaş, Celil Alemdar, Mehmet Gem, Kadir Uzel, Huseyin Arslan
Background: The treatment of diaphyseal forearm fractures using open reduction and plate fixation is generally accepted as the best choice in many studies. However, periosteal stripping, haematoma evacuation may result in delayed union, nonunion and infection. Refracture after plate removal is another concern. To overcome these problems intramedullary nails (IM) with different designs have been used with various outcomes. However previous IM nails have some shortcomings such is rotational instability and interlocking difficulties...
November 2017: Indian Journal of Orthopaedics
https://www.readbyqxmd.com/read/29200407/a-mecom-variant-in-an-african-american-child-with-radioulnar-synostosis-and-thrombocytopenia
#11
Steven V Lord, Joaquin E Jimenez, Zachary A Kroeger, Cory S Patrick, Isalis Sanchez-Pena, Edward Ziga, Guney Bademci, Mustafa Tekin
No abstract text is available yet for this article.
January 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29195663/forensic-age-at-death-estimation-from-the-sternum-in-a-black-south-african-population
#12
Nicholas Bacci, Elsie Koketso Nchabeleng, Brendon Kurt Billings
Age-at-death estimation is a crucial component of any forensic anthropological analysis. Despite a variety of research in this field, uncertainties still exist when estimating adult age. The sternum is an under-considered element in terms of adult age estimation. Previous research on an Indian population suggested that this may be a usable region of the skeleton, although results were ambivalent. This study observed the fusion phases of 461 sterna from a black South African population in an attempt to match true age of an individual with the different phases of synostosis of the manubrio-sternal and the sterno-xiphoidal junctions...
January 2018: Forensic Science International
https://www.readbyqxmd.com/read/29184744/multidirectional-cranial-distraction-osteogenesis-with-simplified-modifications-for-treating-sagittal-synostosis
#13
Ataru Sunaga, Yasushi Sugawara, Hideaki Kamochi, Akira Gomi, Daekwan Chi, Rintaro Asahi, Masanori Mori, Shunji Sarukawa, Hirokazu Uda, Kotaro Yoshimura
Background: Multidirectional cranial distraction osteogenesis (MCDO) is a procedure of ours developed earlier for treating craniosynostosis. However, the numerous bone flaps led to prolonged operative time and occasional bone detachment from dura. We have since simplified the osteotomy design. In treating sagittal synostosis, required bone flaps have been reduced to 11 (from ~20). Methods: In a 2-year period (2014-2015), 5 boys with sagittal synostosis underwent MCDO using our simplified and fixed-form osteotomy...
October 2017: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/29176416/is-postoperative-intensive-care-unit-care-necessary-following-cranial-vault-remodeling-for-sagittal-synostosis
#14
Erik M Wolfswinkel, Lori K Howell, Artur Fahradyan, Beina Azadgoli, J Gordon McComb, Mark M Urata
BACKGROUND: Of U.S. craniofacial and neurosurgeons, 94 percent routinely admit patients to the intensive care unit following cranial vault remodeling for correction of sagittal synostosis. This study aims to examine the outcomes and cost of direct ward admission following primary cranial vault remodeling for sagittal synostosis. METHODS: An institutional review board-approved retrospective review was undertaken of the records of all patients who underwent primary cranial vault remodeling for isolated sagittal craniosynostosis from 2009 to 2015 at a single pediatric hospital...
December 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29135736/use-of-acellular-dermal-matrix-in-craniosynostosis
#15
Anil Madaree
In craniofacial surgery, a wide spectrum of pathological conditions are usually treated. The aetiology of these could be congenital, traumatic, infective, post-tumor resection, postradiation, autoimmune, iatrogenic, or other miscellaneous conditions. The surgical approach for the procedures is usually via a coronal incision. In a large proportion of the patients, the frontal bone is removed to obtain intracranial access. The frontal bone is then replaced either in its original form or in a remodeled state. In congenital conditions the supraorbital bar and frontal bone is often also removed, remodeled, and replaced...
November 9, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29125821/proximal-tibiofibular-synostosis
#16
Ahmet Yiğit Kaptan, O Şahap Atik
A 22-year-old male patient admitted to our clinic with mild pain in left knee. Pain had started 10 years ago and there was no history of trauma. Pain was increased with kneeling. No abnormality was detected on physical examination. Imaging results revealed proximal tibiofibular synostosis in left knee.
December 2017: Eklem Hastalıkları Ve Cerrahisi, Joint Diseases & related Surgery
https://www.readbyqxmd.com/read/29119734/tissue-engineered-composite-scaffold-of-poly-lactide-co-glycolide-and-hydroxyapatite-nanoparticles-seeded-with-autologous-mesenchymal-stem-cells-for-bone-regeneration
#17
Bing Zhang, Pei-Biao Zhang, Zong-Liang Wang, Zhong-Wen Lyu, Han Wu
OBJECTIVE: A new therapeutic strategy using nanocomposite scaffolds of grafted hydroxyapatite (g-HA)/ poly(lactide-co-glycolide) (PLGA) carried with autologous mesenchymal stem cells (MSCs) and bone morphogenetic protein-2 (BMP-2) was assessed for the therapy of critical bone defects. At the same time, tissue response and in vivo mineralization of tissue-engineered implants were investigated. METHODS: A composite scaffold of PLGA and g-HA was fabricated by the solvent casting and particulate-leaching method...
2017: Journal of Zhejiang University. Science. B
https://www.readbyqxmd.com/read/29107381/circumferential-adipofascial-graft-for-prevention-of-recurrence-of-posttraumatic-radioulnar-synostosis
#18
REVIEW
Michael Wigton, Megan Friend, Zhongyu Li
Radioulnar synostosis can cause substantial loss of function, and surgical treatment can be challenging. Recurrence of the contracture related to scar or reformation of the synostosis is problematic. Several techniques have been described for prevention of recurrence. We present a technique utilizing a free wrap around adipofascial graft for interposition and circumferential coverage of the ulna after resection of the heterotopic bone. We believe this technique has the advantages of technical simplicity, secure interposition, and reliable outcomes...
October 26, 2017: Journal of Hand Surgery
https://www.readbyqxmd.com/read/29084115/perioperative-blood-loss-and-transfusion-in-craniosynostosis-surgery
#19
Chang Park, Justin Wormald, Benjamin H Miranda, Juling Ong, Alison Hare, Simon Eccles
Craniosynostosis has an incidence of 1 in 2000 to 2500 live births and may be corrected through several methods including total calvarial remodeling and frontal orbital advancement remodeling. Blood loss during craniosynostosis surgery can be substantial, ranging from 20% to 500% of total circulating volume with a high associated risk of transfusion-related adverse events. The authors performed a retrospective analysis of all patients undergoing surgery for craniosynostosis at a tertiary pediatric craniofacial center with a focus on blood loss and subsequent transfusion...
October 27, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29072964/thoracoscopic-rib-resection-in-children
#20
Dheidan Mufreh Alshammari, Isabelle Talon, Julien Rod, Anne Schneider, Frederic Lavrand, Christian Piolat, Thomas Gelas, Frederic Hameury, Marina Sica, Philippe Gicquel, Valerie Flaum, François Becmeur
OBJECTIVE: The authors present a multicenter retrospective series of different benign rib lesions in children operated on using thoracoscopy. MATERIALS AND METHODS: Between 2005 and 2015, 17 rib resections were performed thoracoscopically, in four French departments of pediatric surgery. Of these 17 cases, 13 exostoses, 2 endochondromas, 1 synostosis, and 1 Cyriax's syndrome were noted. Inclusion criteria were benign tumors or rib anomalies such as synostosis, in children younger than the age of 18 years, and thoracoscopy...
October 26, 2017: Journal of Laparoendoscopic & Advanced Surgical Techniques. Part A
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