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https://www.readbyqxmd.com/read/28739045/filamin-b-the-next-hotspot-in-skeletal-research
#1
REVIEW
Qiming Xu, Nan Wu, Lijia Cui, Zhihong Wu, Guixing Qiu
Filamin B (FLNB) is a large dimeric actin-binding protein which crosslinks actin cytoskeleton filaments into a dynamic structure. Up to present, pathogenic mutations in FLNB are solely found to cause skeletal deformities, indicating the important role of FLNB in skeletal development. FLNB-related disorders are classified as spondylocarpotarsal synostosis (SCT), Larsen syndrome (LS), atelosteogenesis (AO), boomerang dysplasia (BD), and isolated congenital talipes equinovarus, presenting with scoliosis, short-limbed dwarfism, clubfoot, joint dislocation and other unique skeletal abnormalities...
July 6, 2017: Journal of Genetics and Genomics, Yi Chuan Xue Bao
https://www.readbyqxmd.com/read/28734753/cranial-bone-structure-in-children-with-sagittal-craniosynostosis-relationship-with-surgical-outcomes
#2
Naiara Rodriguez-Florez, Amel Ibrahim, J Ciaran Hutchinson, Alessandro Borghi, Greg James, Owen J Arthurs, Patrizia Ferretti, David Dunaway, Silvia Schievano, N U Owase Jeelani
BACKGROUND: While spring-assisted cranioplasty has become a widespread technique to correct scaphocephaly in children with sagittal synostosis, predicting head shape changes induced by the gradual opening of the springs remains challenging. This study aimed to explore the role of cranial bone structure on surgical outcomes. METHODS: Patients with isolated sagittal synostosis undergoing spring-assisted cranioplasty at GOSH (London, UK) were recruited (n = 18, age: 3-8 months)...
June 27, 2017: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
https://www.readbyqxmd.com/read/28730625/fgf9-mutation-causes-craniosynostosis-along-with-multiple-synostoses
#3
Maria Rodriguez-Zabala, Miriam Aza-Carmona, Carlos I Rivera-Pedroza, Alberta Belinchón, Isabel Guerrero-Zapata, Jimena Barraza-García, Elena Vallespin, Min Lu, Angela Del Pozo, Marc J Glucksman, Fernando Santos-Simarro, Karen E Heath
Craniosynostosis is commonly caused by mutations in fibroblast growth factor receptors, highlighting the essential role of FGF-mediated signalling in skeletal development. We set out to identify the molecular defect in a family referred for craniosynostosis and in whom no mutation was previously detected. Using Next-generation sequencing, we identified a novel missense mutation in FGF9. Modelling based upon the crystal structure and functional studies confirmed its pathogenicity showing that it impaired homodimerization and FGFR3 binding...
July 21, 2017: Human Mutation
https://www.readbyqxmd.com/read/28716512/results-of-the-dubert-procedure-for-chronic-painful-fracture-dislocations-of-the-fifth-carpometacarpal-joint-a-report-of-6-cases
#4
N Meraghni, G Bacle, E Marteau, Y Bouju, J Laulan
Carpometacarpal (CMC) fracture-dislocations of the fifth ray are common. For chronic injuries, Dubert proposed combining resection arthroplasty of the base of the fifth metacarpal (M5) with synostosis with the fourth metacarpal (M4). Our aim was to evaluate the results of this procedure. Between 1994 and 2014, 7 men and 1 woman with an average age of 36 years (range, 27 to 45) were operated on. The right hand was involved in 6 of the 8 cases. All patients had symptomatic osteoarthritis secondary to isolated articular malunion and subluxation of the 5th CMC joint...
July 14, 2017: Hand Surgery and Rehabilitation
https://www.readbyqxmd.com/read/28713746/unicoronal-craniosynostosis-and-plagiocephaly-correction-with-fronto-orbital-bone-remodeling-and-advancement
#5
S M Balaji
The standard surgical treatment for unilateral coronal synostosis is fronoto-orbital advancement. The technique is known for its high recurrence rate and established plagiocephaly remains a challenge. In this case report, the management of a 5-year-old with unicoronal plagiocephaly correction with fronto-orbital bone remodeling and advancement is presented. The previous surgery done at 6 months of age resulted in failure with establishment of hypertelorism and sudden progressive diminishing vision. Furthermore, temporal hallowing was evident in the imaging technique...
January 2017: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/28713069/bilateral-capitato-hamato-trapezoidal-synostosis
#6
Sabri Mahjoub, Ahmed Amine Lahmar, Mahdi Miladi, Mohamed Abdelkafi, Mondher Mbarek
No abstract text is available yet for this article.
July 13, 2017: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/28697075/posterolateral-bone-grafting-for-distal-tibia-nonunion
#7
Sanjit Konda, Hesham Saleh, Nina Fisher, Kenneth A Egol
INTRODUCTION: This video demonstrates the technique of posterolateral bone grafting with iliac crest bone graft for a distal tibial nonunion. METHODS: The patient is a 42-year-old man who is 6 months status post an open distal tibia-fibula fracture treated surgically, and presents complaints of persistent right ankle pain. The fracture site was tender to palpation, and 3 consecutive plain radiographs spaced 6 weeks apart demonstrated no evidence of callus formation...
August 2017: Journal of Orthopaedic Trauma
https://www.readbyqxmd.com/read/28693016/cranioplasty-without-periosteal-dissection-reduces-blood-loss-in-pi-plasty-surgery-for-sagittal-synostosis
#8
Tobias Hallén, Giovanni Maltese, Robert Olsson, Peter Tarnow, Lars Kölby
BACKGROUND/AIMS: Cranioplasty is often accompanied by a substantial oozing bleeding from the bone surface and bone edges. Our aim was to measure if strict subgaleal dissection without any periosteal release reduces blood loss during pi-plasty surgery for sagittal synostosis. METHOD: A group of 32 children who underwent pi-plasty surgery at the Sahlgrenska University Hospital between 2010 and 2014 for premature sagittal synostosis with traditional subgaleal dissection combined with incision and release of the periosteum adjacent to the osteotomy lines was compared to a group of 7 children who underwent pi-plasty with strict subgaleal dissection and osteotomy through the bone with the periosteum attached...
July 8, 2017: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28684153/application-of-computer-assisted-three-dimensional-simulation-operation-and-biomechanics-analysis-in-the-treatment-of-sagittal-craniosynostosis
#9
Xiang Li, Wanchun Zhu, Jintao He, Fei Di, Lei Wang, Xin Li, Wei Liu, Chunde Li, Jian Gong
As a surgical method to treat children with sagittal craniosynostosis, calvarial vault reconstruction is subjected to some limitations. In traditional surgical method to treat children with sagittal craniosynostosis, surgical resection and fixation are performed all by the experience of surgical doctor, which is likely to cause individual differences, insecure fixation, configurational asymmetry, and waste of unnecessary fixtures materials. This study aims to provide surgical doctor with objective indicators via 3D simulation combined with biomechanical calculation, so as to improve the surgical efficiency...
July 3, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28665858/post-surgical-relapse-in-metopic-synostosis-and-limitations-of-the-interfrontal-angle-as-an-outcome-measure
#10
Adam D Glener, Alexander C Allori, Ronnie L Shammas, Alfredo E Farjat, Jeffrey R Marcus
BACKGROUND: The interfrontal angle (IFA) has been utilized as a surrogate for morphologic assessment of the anterior cranial region in metopic synostosis with success in characterizing presenting severity. Its utility as an outcome measure has not been assessed similarly. In this study, we aimed to determine whether meaningful information relative to shape, and relapse in particular, could be assessed using the IFA. METHODS: Patients with operatively treated isolated metopic synostosis were identified and included based on the availability of "previously obtained" low-dose computerized tomography (CT) scans at (1) preoperative and 2 postoperative (2) postoperative day-3 and (3) 1 year time points...
June 29, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28665854/morphometric-analysis-of-the-posterior-cranial-fossa-in-syndromic-and-nonsyndromic-craniosynostosis
#11
Thomas Beez, David Koppel, Meharpal Sangra
Posterior cranial fossa (PCF) anatomy can be abnormal in craniosynostosis, and hindbrain herniation may occur. This study analyzed PCF anatomy in single suture and complex craniosynostosis.Children with craniosynostosis and age-matched controls were identified. Cephalic index (CI) for cranial vault and PCF as well as tentorial (TA) and occipital angles (OA) were measured on preoperative imaging.Children with syndromic (N = 6), bicoronal (N = 4), sagittal (N = 12), and metopic synostosis (N = 4) as well as controls (N = 10) were enrolled...
June 29, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28665841/asymmetric-multisutural-craniosynostosis-an-algorithm-of-early-intervention-to-prevent-evolving-deformity
#12
Michael R Bykowski, Sanjay Naran, Renata Maricevich, Jesse A Goldstein, Joseph E Losee
BACKGROUND: Asymmetric multisutural craniosynostosis (AMC) is characterized by fusion of a midline suture combined with unilateral fusion of at least 1 nonmidline suture. Due to its rarity, complexity, and high rate of reoperation, the purpose of this study is to evaluate outcomes of our staged approach to AMC. METHODS: Patients treated for craniosynostosis between January 2004 and December 2013 were identified retrospectively. Only patients with AMC and a minimum follow-up of 2 years were included...
June 29, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28634742/outcomes-of-coronoid-first-repair-in-terrible-triad-injuries-of-the-elbow
#13
Junren Zhang, Mark Tan, Ernest Beng Kee Kwek
BACKGROUND: Clinical outcomes of terrible triad injuries (TTIs) of the elbow are historically poor. To date, it is still debatable whether the coronoid needs to be fixed and if so, how and in which sequence. METHODOLOGY: Between 2010 and 2013, 13 patients were treated surgically for acute TTIs of the elbow at a Tertiary Level 1 Trauma Centre by a single surgeon, using a standardized protocol, which included coronoid-brachialis complex fixation via pull-through trans-osseous sutures, radial head fixation or prosthetic replacement and a repair of the lateral ulnar collateral ligament...
June 20, 2017: Archives of Orthopaedic and Trauma Surgery
https://www.readbyqxmd.com/read/28632664/outcome-of-low-intensity-pulsed-ultrasound-lipus-for-opening-wedge-high-tibial-osteotomy
#14
Ryusuke Saito, Tsuyoshi Nagase, Tomohiko Tateishi, Sadanori Shimizu, Takuya Kato, Teruhiko Nakagawa, Masamitsu Tsutiya
OBJECTIVE: Opening Wedge High Tibial Osteotomy (OWHTO) for knee osteoarthritis and for osteonecrosis has reported good results. Use of low intensity pulsed ultrasound (LIPUS) after OWHTO had become an option for the treatment of OWHTO since April 2016. The purpose of this study was to examine whether LIPUS has an accelerating effect on synostosis after OWHTO. MATERIALS AND METHODS: The control subjects were 24 patients with a total of 26 knees (9 male with knees and 15 female with 17 knees treated) treated with OWHTO only...
July 2017: Journal of Orthopaedic Trauma
https://www.readbyqxmd.com/read/28590022/on-the-significance-of-craniosynostosis-in-a-case-of-kabuki-syndrome-with-a-concomitant-kmt2d-mutation-and-3-2%C3%A2-mbp-de-novo-10q22-3q23-1-deletion
#15
Alexandra Topa, Lena Samuelsson, Lovisa Lovmar, Göran Stenman, Lars Kölby
Craniosynostosis has rarely been described in patients with Kabuki syndrome. We report here a boy with facial asymmetry due to combined premature synostosis of the right coronal and sagittal sutures as well as several symptoms reminiscent of Kabuki syndrome (KS). Our case supports previous observations and suggests that craniosynostosis is a part of the KS phenotype. The uniqueness of our case is the sporadic co-occurrence of two genetic disorders, that is, a de novo frameshift variant in the KMT2D gene and a de novo 3...
June 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28583642/ultrasonography-for-the-diagnosis-of-craniosynostosis
#16
Maïa Proisy, Laurent Riffaud, Kamal Chouklati, Catherine Tréguier, Bertrand Bruneau
OBJECTIVES: The aim of this study was to report our experience with ultrasonography in our routine practice for the diagnosis of cranial deformity in infants. METHODS: We conducted a single-institution retrospective study of infants referred to our department because of skull deformity. We only included in this study infants having undergone both US and 3D-CT to ensure accurate comparisons. Each cranial suture was described as normal or closed (partial or complete closure)...
May 2017: European Journal of Radiology
https://www.readbyqxmd.com/read/28582306/delayed-presentation-of-isolated-sagittal-synostosis-with-raised-intracranial-pressure-and-secondary-chiari-malformation-with-cervical-syringomyelia
#17
Stratos S Sofos, Ben Robertson, Christian Duncan, Ajay Sinha
Sagittal craniosynostosis (SC) is the most common type of premature suture fusion presenting in approximately 1 in every 5000 births with a 3:1 male:female ratio. The most common indication for surgery is the improvement of the cosmetic appearance of the skull, since a cranial deformation may have a significant psychosocial impact on affected patients. Relief from raised intracranial pressure is a further indication for surgery, although an increased intracranial pressure (ICP) can be demonstrated only in a minority of affected children at diagnosis...
June 2, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28578511/cranial-ultrasound-is-a-reliable-first-step-imaging-in-children-with-suspected-craniosynostosis
#18
L Pogliani, G V Zuccotti, M Furlanetto, V Giudici, A Erbetta, L Chiapparini, L Valentini
PURPOSE: Skull radiography (SR) and Computed Tomography (CT) are still proposed as the first-line imaging choice for the diagnosis of craniosynostosis (CS) in children with abnormal head shape, but both techniques expose infants to ionizing radiation. Several studies shown that ultrasound may play an important role in the diagnosis of craniosynostosis. The aim of our study is to assess the diagnostic accuracy of cranial ultrasound scan (CUS) and confirm if it is a reliable first step imaging evaluation for the diagnosis of craniosynostosis in newborn...
June 3, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28574949/minor-suture-fusion-in-syndromic-craniosynostosis
#19
Christopher M Runyan, Wen Xu, Michael Alperovich, Jonathan P Massie, Gina Paek, Benjamin A Cohen, David A Staffenberg, Roberto L Flores, Jesse A Taylor
BACKGROUND: Infants with craniofacial dysostosis syndromes may present with midface abnormalities but without major (calvarial) suture synostosis and head shape anomalies. Delayed presentation of their calvarial phenotype is known as progressive postnatal craniosynostosis. Minor sutures/synchondroses are continuations of major sutures toward and within the skull base. We hypothesized that minor suture synostosis is present in infants with syndromic, progressive postnatal craniosynostosis, and is associated with major suture synostosis...
May 31, 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28553772/prenatal-ultrasound-parameters-in-single-suture-craniosynostosis
#20
Martijn J Cornelissen, Inge Apon, Jacques J N M van der Meulen, Irene A L Groenenberg, Mieke N Kraan-van der Est, Irene M J Mathijssen, Gouke J Bonsel, Titia E Cohen-Overbeek
INTRODUCTION: Although single-suture craniosynostosis is diagnosed sporadically during pregnancy, timely referral is critical for its treatment. Additionally, craniosynostosis leads to increased maternofetal trauma during birth. In the Netherlands, 95% of pregnant women receive a standard ultrasound at around 20 weeks of gestation, potentially an ideal setting for detecting craniosynostosis prenatally. To enhance the prenatal detection of the metopic and the sagittal suture synostosis, we wished to identify new screening parameters...
June 14, 2017: Journal of Maternal-fetal & Neonatal Medicine
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