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https://www.readbyqxmd.com/read/29053644/dental-approach-for-apert-syndrome-in-children-a-systematic-review
#1
A-S López-Estudillo, M-A Rosales-Bérber, S Ruiz-Rodríguez, A Pozos-Guillén, M-Á Noyola-Frías, A Garrocho-Rangel
BACKGROUND: Apert Syndrome (AS), or type I acrocephalosyndactyly, is a rare, congenital craniosynostosis condition resulting from missense mutations in the gene encoding fibroblast growth factor receptor 2. It is characterized by three specific clinical features: brachycephalic skull; midface hypoplasia, and limb abnormalities (syndactyly of hands and feet). The disorder exhibits variable presentations in bones, brain, skin, internal organs, and in the oral/maxillofacial region. The aim of the present paper was to show the main results from a systematic review of AS...
November 1, 2017: Medicina Oral, Patología Oral y Cirugía Bucal
https://www.readbyqxmd.com/read/29036029/-anterior-skull-base-and-pericranial-flap-ossification-after-frontofacial-monobloc-advancement
#2
Anne Morice, Giovanna Paternoster, Agnès Ostertag, Syril James, Martine Cohen-Solal, Roman H Khonsari, Eric Arnaud
BACKGROUND: Frontofacial monobloc advancement (FFMBA) creates a communication between the anterior cranial fossa and nasal cavities. To tackle this issue, trans-orbital pericranial pedicled flaps (PF) are routinely performed in our center. This study aimed to assess the post-operative ossification of the anterior skull base and PF following FFMBA, and to identify factors influencing this ossification. METHODS: Measurements of the skull base only (SB) and of the ossified PF together with the SB (SB-OPF) were performed on CT scans at the naso-frontal (NF) and the naso-ethmoïdo-frontal (NEF) junctions...
October 12, 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29019756/imaging-of-skeletal-disorders-caused-by-fibroblast-growth-factor-receptor-gene-mutations
#3
Kiran M Sargar, Achint K Singh, Simon C Kao
Fibroblast growth factors and fibroblast growth factor receptors (FGFRs) play important roles in human axial and craniofacial skeletal development. FGFR1, FGFR2, and FGFR3 are crucial for both chondrogenesis and osteogenesis. Mutations in the genes encoding FGFRs, types 1-3, are responsible for various skeletal dysplasias and craniosynostosis syndromes. Many of these disorders are relatively common in the pediatric population, and diagnosis is often challenging. These skeletal disorders can be classified based on which FGFR is affected...
October 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28974353/growth-curves-for-intracranial-volume-in-normal-asian-children-fortify-management-of-craniosynostosis
#4
Hideaki Kamochi, Ataru Sunaga, Daekwan Chi, Rintaro Asahi, Shiho Nakagawa, Masanori Mori, Hirokazu Uda, Shunji Sarukawa, Yasushi Sugawara, Kotaro Yoshimura
BACKGROUND: Although the charting of normal intracranial volume (ICV) is fundamental for managing craniosynostosis, Asian norms in this regard are unknown. The purpose of this study was to establish a growth curve for ICVs in a large series of normal Asian children, providing reference values to guide corrective surgery. METHODS: A total of 124 normal children (male, 63; female, 61) and 41 children diagnosed with craniosynostoses were analyzed. Patients aged 0-8 years presenting to the emergency room and subjected to computed tomography (CT) for head trauma served as the reference cohort...
September 21, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28962091/intracranial-volume-measurement-a-systematic-review-and-comparison-of-different-techniques
#5
William Breakey, Paul G M Knoops, Alessandro Borghi, Naiara Rodriguez-Florez, David J Dunaway, Silvia Schievano, Owase N U Jeelani
The ability to calculate intracranial volume (ICV) from 3-dimensional imaging is a useful tool in a craniofacial team's armamentarium. Intracranial volume uses range from decision making to assessment. Various methods to calculate ICV exist including fully manual, semiautomatic, and fully automatic techniques and they are used with varying frequency in craniofacial centres globally.This study aimed to systematically analyze and compare ICV calculations across the 3 methods and provide information to allow the reader to utilize these processes in practice...
October 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28906337/a-three-dimensional-study-of-midfacial-changes-following-le-fort-ii-distraction-with-zygomatic-repositioning-in-syndromic-patients
#6
James M Smartt, Carey Campbell, Rami Hallac, Jake Alford, Christopher A Derderian
Le Fort II distraction with zygomatic repositioning introduced the ability to restore central midfacial height and convexity independent of changes in orbital morphology. This study analyzes midfacial and orbital morphology before and after Le Fort II distraction with zygomatic repositioning.All patients who underwent Le Fort II Distraction with zygomatic repositioning between 2013 and 2015 were included. Two- and 3-dimensional measurements were made using 3dMD Vultus software to assess canthal tilt, nasolabial angle, ratio of midfacial to lower facial height, and absolute change in nasal length...
November 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28826843/arq-087-inhibits-fgfr-signaling-and-rescues-aberrant-cell-proliferation-and-differentiation-in-experimental-models-of-craniosynostoses-and-chondrodysplasias-caused-by-activating-mutations-in-fgfr1-fgfr2-and-fgfr3
#7
Lukas Balek, Iva Gudernova, Iva Vesela, Marek Hampl, Veronika Oralova, Michaela Kunova Bosakova, Miroslav Varecha, Pavel Nemec, Terence Hall, Giovanni Abbadessa, Nan Hatch, Marcela Buchtova, Pavel Krejci
Tyrosine kinase inhibitors are being developed for therapy of malignancies caused by oncogenic FGFR signaling but little is known about their effect in congenital chondrodysplasias or craniosynostoses that associate with activating FGFR mutations. Here, we investigated the effects of novel FGFR inhibitor, ARQ 087, in experimental models of aberrant FGFR3 signaling in cartilage. In cultured chondrocytes, ARQ 087 efficiently rescued all major effects of pathological FGFR3 activation, i.e. inhibition of chondrocyte proliferation, loss of extracellular matrix and induction of premature senescence...
August 18, 2017: Bone
https://www.readbyqxmd.com/read/28820838/five-year-follow-up-of-midface-distraction-in-growing-children-with-syndromic-craniosynostosis
#8
Parit A Patel, Pradip Shetye, Stephen M Warren, Barry H Grayson, Joseph G McCarthy
BACKGROUND: Maxillary position in patients with syndromic craniosynostosis after midface distraction has been shown to be stable 1 year postoperatively. The purpose of this study is to assess midfacial position in the growing child with craniosynostosis 5 years after Le Fort III advancement with a rigid external device (RED). METHODS: Seventeen consecutive patients were identified to have the diagnosis of syndromic craniosynostosis and who underwent midface advancement...
August 8, 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28811814/apert-syndrome-report-of-a-rare-congenital-malformation
#9
Ehsan Rathore, Altaf Hussain Rathore
A rare case of an adult male with malformation of the skull, face, hands and feet called acrocephalosyndactly or Apert syndrome is presented. Its probable cause, features and treatment is discussed. It is a unique case who survived upto the age of 32 years without any operative intervention and adjusted in the society though he has all the stigmas of the above syndrome. We have concluded and made a point that in the adult sufferer, facial deformity is not so important and urgent for the treatment than syndactyly, which handicaps the sufferer in performing the daily routine work...
May 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28805624/prenatal-diagnosis-of-a-sporadic-apert-syndrome-by-3-d-ultrasound-and-3-d-helical-computerized-tomography
#10
Yan-Zhu Wang, Horng-Der Tsai, Charles Tsung-Che Hsieh
No abstract text is available yet for this article.
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28790902/integration-of-brain-and-skull-in-prenatal-mouse-models-of-apert-and-crouzon-syndromes
#11
Susan M Motch Perrine, Tim Stecko, Thomas Neuberger, Ethylin W Jabs, Timothy M Ryan, Joan T Richtsmeier
The brain and skull represent a complex arrangement of integrated anatomical structures composed of various cell and tissue types that maintain structural and functional association throughout development. Morphological integration, a concept developed in vertebrate morphology and evolutionary biology, describes the coordinated variation of functionally and developmentally related traits of organisms. Syndromic craniosynostosis is characterized by distinctive changes in skull morphology and perceptible, though less well studied, changes in brain structure and morphology...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28654610/what-s-new-in-syndromic-craniosynostosis-surgery
#12
Jesse A Taylor, Scott P Bartlett
LEARNING OBJECTIVES: After studying this article, the participant should be able to: 1. Understand the role of prenatal screening and counseling of parents of unborn children with syndromic craniosynostosis. 2. Recognize the genetic abnormalities, craniofacial phenotype, associated anomalies, and challenges associated with each of the five major forms of syndromic craniosynostosis. 3. Identify the pros and cons associated with timing and types of cranial vault remodeling techniques in this patient population...
July 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28650109/inducible-activation-of-fgfr2-in-adult-mice-promotes-bone-formation-after-bone-marrow-ablation
#13
Wei Xu, Fengtao Luo, Quan Wang, Qiaoyan Tan, Junlan Huang, Siru Zhou, Zuqiang Wang, Xianding Sun, Liang Kuang, Min Jin, Nan Su, Wanling Jiang, Liang Chen, Huabing Qi, Ying Zhu, Bo Chen, Hangang Chen, Shuai Chen, Yu Gao, Xiaoling Xu, Chuxia Deng, Lin Chen, Yangli Xie, Xiaolan Du
Apert syndrome is one of the most severe craniosynostoses, resulting from gain-of-function mutations in fibroblast growth factor receptor 2 (FGFR2). Previous studies have shown that gain-of-function mutations of FGFR2 (S252W or P253R) cause skull malformation of human Apert syndrome by affecting both chondrogenesis and osteogenesis, underscoring the key role of FGFR2 in bone development. However, the effects of FGFR2 on bone formation at the adult stage have not been fully investigated. To investigate the role of FGFR2 in bone formation, we generated mice with tamoxifen-inducible expression of mutant FGFR2 (P253R) at the adult stage...
November 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28570459/alar-pinning-in-rigid-external-distraction-for-midfacial-hypoplasia
#14
Jenny L Yu, Albert S Woo
BACKGROUND: Distraction osteogenesis with a rigid external distractor is a widely accepted treatment for midfacial hypoplasia. In this study, the authors introduce the utilization of alar pinning with the external halo distractor for maxillary advancement, in place of an oral splint. METHODS: A retrospective chart review was conducted of 7 patients who successfully underwent distraction osteogenesis using the alar pinning technique. Midfacial hypoplasia was secondary to Crouzon syndrome (n = 4), Apert syndrome (n = 1), Pfeiffer syndrome (n = 1), or bacterial meningitis (n = 1)...
September 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28540653/il-2-and-il-15-dependent-thymic-development-of-foxp3-expressing-regulatory-t-lymphocytes
#15
REVIEW
Cécile Apert, Paola Romagnoli, Joost P M van Meerwijk
Immunosuppressive regulatory T lymphocytes (Treg) expressing the transcription factor Foxp3 play a vital role in the maintenance of tolerance of the immune-system to self and innocuous non-self. Most Treg that are critical for the maintenance of tolerance to self, develop as an independent T-cell lineage from common T cell precursors in the thymus. In this organ, their differentiation requires signals from the T cell receptor for antigen, from co-stimulatory molecules, as well as from cytokine-receptors. Here we focus on the cytokines implicated in thymic development of Treg, with a particular emphasis on the roles of interleukin-2 (IL-2) and IL-15...
May 24, 2017: Protein & Cell
https://www.readbyqxmd.com/read/28524085/present-food-shopping-habits-in-the-spanish-adult-population-a-cross-sectional-study
#16
María Achón, María Serrano, Ángela García-González, Elena Alonso-Aperte, Gregorio Varela-Moreiras
Information on grocery shopping patterns is one key to understanding dietary changes in recent years in Spain. This report presents an overview of Spanish food shopping patterns in the adult population. A cross-sectional, nationally representative telephone survey was conducted in Spain. Individuals were asked about food shopping responsibility roles, types of visited food stores, time spent, additional behaviors while shopping, the influence of marketing/advertising and, in particular, fresh produce shopping profile...
May 18, 2017: Nutrients
https://www.readbyqxmd.com/read/28523332/apert-syndrome-clinical-case
#17
Mirela Anişoara Siminel, Cristian Ovidiu NeamŢu, Damian DiŢescu, Mircea Cătălin ForŢofoiu, Alexandru Cristian Comănescu, Marius Bogdan Novac, Simona Daniela NeamŢu, Adrian Gluhovschi
Apert syndrome - acrocephalosyndactyly - is a rare autosomal dominant disorder representing 1:65 000 cases of living newborns. Characteristic malformations of the Apert syndrome are early craniostenosis, microviscerocranium and II-V finger syndactyly of hand and toes with proximal phalanx of the bilateral thumb "in delta". It is difficult to determine prenatal diagnosis in the second quarter, when examining the morphology of fetal signs; the dysmorphism signs appeared in the third pregnancy quarter. We present here the case of a newborn with Apert syndrome that was born prematurely in our Clinic after a monitored pregnancy, where there was issued a suspicion of cranio-facial dysmorphism, malposition and malformation of the feet and hands in the third quarter of prenatal pregnancy...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28468153/long-term-evaluation-of-mandibular-growth-in-children-with-fgfr2-mutations
#18
John C Kolar, Kanlaya Ditthakasem, Jeffrey A Fearon
BACKGROUND: Understanding mandibular growth in children with fibroblast growth factor receptor 2 (FGFR2) mutations is important for planning the degree of midface advancement, and for determining the best treatment for obstructive sleep apnea. Yet, relatively little is known about growth of the unoperated mandible in affected children. The purpose of this study was to evaluate mandibular growth through skeletal maturity in Apert, Crouzon, and Pfeiffer syndromes. METHODS: A retrospective chart review was performed...
May 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28468151/tracheal-cartilaginous-sleeve-in-syndromic-craniosynostosis-an-underrecognized-source-of-significant-morbidity-and-mortality
#19
Brent B Pickrell, Jesse D Meaike, Karina T Cañadas, Binoy M Chandy, Edward P Buchanan
Tracheal cartilaginous sleeve (TCS) is a rare and previously unrecognized source of morbidity and mortality in patients with certain craniosynostosis syndromes. There is a paucity of reporting on this airway anomaly, and the true incidence of TCS is largely unknown. The purpose of this study was to investigate the incidence of TCS among patients with syndromic craniosynostosis at our institution. Patients with syndromic craniosynostosis who underwent direct bronchoscopy and laryngoscopy were evaluated retrospectively by pediatric otolaryngologists for the presence of TCS and associated anomalies...
May 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28437266/gelfoam-interposition-minimizes-risk-of-fistula-and-postoperative-bleeding-in-modified-furlow-palatoplasty
#20
Jing Li, Patrick A Gerety, James Johnston, Jesse A Taylor
Failure to accomplish a tension-free, watertight closure predisposes the palatoplasty patient to fistula formation. Perioperative bleeding also places the patient at risk for adverse airway events (AAE). This study introduces the incorporation of a hemostatic gelatin sponge (Gelfoam) into layered palatoplasty to minimize adverse postoperative bleeding and fistula formation. A retrospective chart review was performed to identify subjects who underwent Furlow palatoplasty with insertion of Gelfoam from 2010 to 2015...
November 2017: Journal of Craniofacial Surgery
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