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https://www.readbyqxmd.com/read/28346501/a-tissue-specific-role-for-intraflagellar-transport-genes-during-craniofacial-development
#1
Elizabeth N Schock, Jaime N Struve, Ching-Fang Chang, Trevor J Williams, John Snedeker, Aria C Attia, Rolf W Stottmann, Samantha A Brugmann
Primary cilia are nearly ubiquitous, cellular projections that function to transduce molecular signals during development. Loss of functional primary cilia has a particularly profound effect on the developing craniofacial complex, causing several anomalies including craniosynostosis, micrognathia, midfacial dysplasia, cleft lip/palate and oral/dental defects. Development of the craniofacial complex is an intricate process that requires interactions between several different tissues including neural crest cells, neuroectoderm and surface ectoderm...
2017: PloS One
https://www.readbyqxmd.com/read/28346493/aberrant-neuronal-activity-induced-signaling-and-gene-expression-in-a-mouse-model-of-rasopathy
#2
Franziska Altmüller, Santosh Pothula, Anil Annamneedi, Saeideh Nakhei-Rad, Carolina Montenegro-Venegas, Eneko Pina-Fernández, Claudia Marini, Monica Santos, Denny Schanze, Dirk Montag, Mohammad R Ahmadian, Oliver Stork, Martin Zenker, Anna Fejtova
Noonan syndrome (NS) is characterized by reduced growth, craniofacial abnormalities, congenital heart defects, and variable cognitive deficits. NS belongs to the RASopathies, genetic conditions linked to mutations in components and regulators of the Ras signaling pathway. Approximately 50% of NS cases are caused by mutations in PTPN11. However, the molecular mechanisms underlying cognitive impairments in NS patients are still poorly understood. Here, we report the generation and characterization of a new conditional mouse strain that expresses the overactive Ptpn11D61Y allele only in the forebrain...
March 27, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28344950/impalement-head-injury-with-a-spear
#3
B I Akhiwu, A S Adoga, O P Binitie, C C Ani, M Iweagwu, O Adetutu, T Ureme, D D George, P D Didamson, E Oseni-Momodu, B T Ugwu
Impalement injuries to the craniofacial region are uncommon due to the fact that the face is a smaller target in relation to the rest of the body. We report a case of a 26-year old man who was attacked on the face with a spear. He was promptly evaluated and resuscitated; the blade of the spear was successfully extracted under general anaesthesia. He was discharged home after 2 weeks hospitalization; he has been followed up for three months with good outcome.
April 2016: Journal of the West African College of Surgeons
https://www.readbyqxmd.com/read/28344185/arthrogryposis-as-neonatal-presentation-of-loeys-dietz-syndrome-due-to-a-novel-tgfbr2-mutation
#4
Irene Valenzuela, Paula Fernández-Alvarez, Francina Munell, Angel Sanchez-Montanez, Gemma Giralt, Teresa Vendrell, Eduardo Tizzano
Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder characterized mainly by cardiovascular, craniofacial and skeletal features. We report on a patient with LDS, whose prenatal examination was compatible with the diagnosis of arthrogryposis multiplex congenita. Neonatal assessment showed craniofacial and cardiovascular findings suggestive of LDS whose diagnosis was confirmed by the detection of a novel mutation (HGVN: NM_003242.5 (TGFBR2): c.1381T > C (p.(Cys461Arg))) in the TGFBR2 gene...
March 23, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28344182/repair-of-frontoethmoidal-encephalocele-in-the-philippines-an-account-of-30-cases-between-2008-2013
#5
Amanda-Lynn Marshall, Pradeep Setty, Mark Hnatiuk, Daniel R Pieper
BACKGROUND: Frontoethmoidal encephalocele is a congenital abnormality of the anterior skull base involving herniation of cranial contents through a midline skull defect. Patency of the foramen cecum, along with other multifactorial variables, contribute to the development of frontoethmoidal encephaloceles. Due to limited resources, financial constraints, and lack of surgical expertise, repair of frontoethmoidal encephaloceles are limited in developing countries. METHODS: Between 2008-2013 an interdisciplinary team composed of neurosurgeons, craniofacial surgeons, otolaryngologists, plastic surgeons and nursing personnel, conducted surgical mission trips to Davao City in Mindanao, Philippines...
March 23, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28344026/the-impact-of-various-scaffold-components-on-vascularized-bone-constructs
#6
Ahmad Eweida, Matthias Schulte, Oliver Frisch, Ulrich Kneser, Leila Harhaus
Bone tissue engineering is gaining more interest in the field of craniofacial surgery where continuous efforts are being made to improve the outcomes via modulation of the scaffold components. In an in vitro three dimensional (3D) culture, the effect of bone morphogenic protein 2 (BMP2, 60 μg/ml) and the effect of different cell seeding densities (0.25, 0.5, and 1 × 104) of rat mesenchymal stem cells seeded on nanocrystalline hydroxyapatite in silica gel matrix (Nanobone(®)) on the cell viability and differentiation were studied...
February 24, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28341857/embryonic-defence-mechanisms-against-glucose-dependent-oxidative-stress-require-enhanced-expression-of-alx3-to-prevent-malformations-during-diabetic-pregnancy
#7
Patricia García-Sanz, Mercedes Mirasierra, Rosario Moratalla, Mario Vallejo
Oxidative stress constitutes a major cause for increased risk of congenital malformations associated to severe hyperglycaemia during pregnancy. Mutations in the gene encoding the transcription factor ALX3 cause congenital craniofacial and neural tube defects. Since oxidative stress and lack of ALX3 favour excessive embryonic apoptosis, we investigated whether ALX3-deficiency further increases the risk of embryonic damage during gestational hyperglycaemia in mice. We found that congenital malformations associated to ALX3-deficiency are enhanced in diabetic pregnancies...
March 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28340666/innovations-and-future-directions-in-head-and-neck-microsurgical-reconstruction
#8
REVIEW
Marissa Suchyta, Samir Mardini
Head and neck reconstructive microsurgery is constantly innovating because of a combination of multidisciplinary advances. This article examines recent innovations that have affected the field as well as presenting research leading to future advancement. Innovations include the use of virtual surgical planning and three-dimensional printing in craniofacial reconstruction, advances in intraoperative navigation and imaging, as well as postoperative monitoring, development of minimally invasive reconstructive microsurgery techniques, integration of regenerative medicine and stem cell biology with reconstruction, and the dramatic advancement of face transplant...
April 2017: Clinics in Plastic Surgery
https://www.readbyqxmd.com/read/28340490/a-novel-method-of-neo-osseous-flap-prefabrication-induction-of-free-calvarial-periosteum-with-bioactive-glass
#9
Ali Aliyev, Omer Ekin, Ozan Bitik, Gokhan Tuncbilek
Background Reconstruction of craniofacial bone defects is a primary focus of craniofacial surgery. Although autogenous bone grafts remain as the gold standard, alloplastic materials have also gained widespread popularity due to their off-the-shelf availability, ease of use, and durability. In addition to replacing the missing bone, some of these alloplastic materials have also been found to induce new bone formation. Objectives In this study, the phenomenon of neo-osseous induction with bioactive glass was investigated for different implant-soft tissue configurations...
March 24, 2017: Journal of Reconstructive Microsurgery
https://www.readbyqxmd.com/read/28340178/morphometric-covariation-between-palatal-shape-and-skeletal-pattern-in-class-ii-growing-subjects
#10
Valeria Paoloni, Roberta Lione, Francesca Farisco, Demetrios J Halazonetis, Lorenzo Franchi, Paola Cozza
Objectives: To evaluate the patterns of covariation between palatal and craniofacial morphology in Class II subjects in the early mixed dentition by means of geometric morphometrics. Methods: A cross-sectional sample of 85 Class II subjects (44 females, 41 males; mean age 8.7 years ± 0.8) was collected retrospectively according to the following inclusion criteria: European ancestry (white), Class II skeletal relationship, Class II division 1 dental relationship, early mixed dentition, and prepubertal skeletal maturation...
March 14, 2017: European Journal of Orthodontics
https://www.readbyqxmd.com/read/28338586/towards-microsurgical-correction-of-cleft-lip-ex-utero-via-restoration-of-craniofacial-developmental-programs
#11
Xue Dong, Wilmina N Landford, James Hart, Maurizio Risolino, Omer Kaymakcalan, Julia Jin, Yoshiko Toyoda, Elisabetta Ferretti, Licia Selleri, Jason A Spector
BACKGROUND: Cleft Lip with or without Palate (CL/P) is present in approximately 1 in 500-700 live births, representing the most common congenital craniofacial anomaly. Previously, we developed a unique murine model with compound Pbx deficiency that exhibits fully penetrant CL/P. To investigate the possibility of tissue repair at an early gestational stage, we designed a minimally invasive surgical approach suitable for intrauterine repair using Wnt9b-soaked collagen microspheres to restore craniofacial developmental programs for cleft correction...
March 3, 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28338583/discussion-towards-microsurgical-correction-of-cleft-lip-ex-utero-via-restoration-of-craniofacial-developmental-programs
#12
Ryan C Ransom, H Peter Lorenz, Michael T Longaker
No abstract text is available yet for this article.
March 3, 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28334780/eif4a3-deficient-human-ipscs-and-mouse-models-demonstrate-neural-crest-defects-that-underlie-richieri-costa-pereira-syndrome
#13
Emily E Miller, Gerson S Kobayashi, Camila M Musso, Miranda Allen, Felipe A A Ishiy, Luiz C de Caires Junior, Ernesto S G Guimarães, Karina Griesi-Oliveira, Roseli M Zechi-Ceide, Antonio Richieri-Costa, Debora R Bertola, Maria Rita Passos-Bueno, Debra L Silver
Biallelic loss-of-function mutations in the RNA binding protein EIF4A3 cause Richieri-Costa-Pereira syndrome (RCPS), an autosomal recessive condition mainly characterized by craniofacial and limb malformations. However, the pathogenic cellular mechanisms responsible for this syndrome are entirely unknown. Here we used two complementary approaches, patient-derived induced pluripotent stem cells (iPSCs) and conditional Eif4a3 mouse models, to demonstrate that defective Neural Crest Cell (NCC) development explains RCPS craniofacial abnormalities...
March 2, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28333042/minocycline-releasing-pmma-system-as-a-space-maintainer-for-staged-bone-reconstructions-in-vitro-antibacterial-cytocompatibility-and-anti-inflammatory-characterization
#14
Tiago Silva, Liliana Grenho, Joana Barros, José Silva, Rosana Pinto, Ana Matos, Bruno Colaço, Helena Fernandes, Ana Bettencourt, Pedro S Gomes
In the present work, it is aimed the development and biological characterization of a poly methyl methacrylate (PMMA)-based minocycline delivery system, to be used as a space maintainer within craniofacial staged regenerative interventions. Developed delivery systems were characterized regarding solid state characteristics and assayed in vitro for anti-bacterial and anti-inflammatory activity, and cytocompatibility with human bone cells. Drug release profile allowed for an initial burst release and a more sustained and controlled release over time, with minimum inhibitory concentrations for the assayed and relevant pathogenic bacteria (i...
March 23, 2017: Biomedical Materials
https://www.readbyqxmd.com/read/28332779/intrafamilial-phenotypic-variability-in-a-polish-family-with-sensenbrenner-syndrome-and-biallelic-wdr35-mutations
#15
Joanna Walczak-Sztulpa, Anna Wawrocka, Agata Sobierajewicz, Lukasz Kuszel, Jan Zawadzki, Ryszard Grenda, Anna Swiader-Lesniak, Beata Kocyla-Karczmarewicz, Anna Wnuk, Anna Latos-Bielenska, Krystyna H Chrzanowska
Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy. Cranioectodermal dysplasia is characterized by craniofacial, skeletal, and ectodermal abnormalities. About 50 patients have been described to date. Sensenbrenner syndrome belongs to a group of ciliary chondrodysplasias and is a genetically heterogeneous disorder. Mutations in five genes: IFT122, WDR35, IFT43, WDR19, and IFT52 have been associated with CED. All known genes encode proteins that are part of the intraflagellar transport complex, which plays an important role in the assembly and maintenance of cilia...
March 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28332154/altered-cerebrospinal-fluid-dynamics-in-neurofibromatosis-type-l-severe-arachnoid-thickening-in-patients-with-neurofibromatosis-type-1-may-cause-abnormal-csf-dynamic
#16
Young Sill Kang, Eun-Kyung Park, Yong-Oock Kim, Ju-Seong Kim, Dong-Seok Kim, U W Thomale, Kyu-Won Shim
INTRODUCTION: The object of this study is to understand abnormal dynamic of cerebrospinal fluid (CSF) in patients with neurofibromatosis type 1 (NF1), which may cause temporal lobe herniation and bulging of temporal fossa. METHODS: Four patients, three females and one male, with NF1 were studied retrospectively. They presented with a similar craniofacial deformity, which consisted of pulsatile exophthalmos, an enlarged bony orbit, dysplasia of the sphenoid wing with the presence of a herniation of the temporal lobe into the orbit, and a bulging temporal fossa...
March 22, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28330754/injectable-nanoparticles-hydrogels-composite-as-sustained-release-system-with-stromal-cell-derived-factor-1%C3%AE-for-calvarial-bone-regeneration
#17
Lei Mi, Huaiqin Liu, Yu Gao, Hui Miao, Jianping Ruan
Repair of craniofacial bony defects remains a challenge for surgeons due to the delicate and complex anatomy of the craniofacial skeleton. Stromal cell-derived factor-1α (SDF-1α) is an important chemokine which plays a critical role in the homing of mesenchymal stem cells (MSC), while, the shortcomings including short half-life and easy degradation by enzymes made it in relatively low efficacy. In this work, SDF-1α/chitosan/carboxymeymethy-chitosan nanoparticles (SDF-1α/CS/CMCS NPs) were prepared and characterized for various parameters including morphology, particle size, zeta potential, loading efficiency and the release characteristics from thermosensitive chitosan/β-glycerol phosphate disodium salt (CS/GP) hydrogels...
March 19, 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/28329602/glycopyrrolate-induced-craniofacial-compensatory-hyperhidrosis-successfully-treated-with-oxybutynin-report-of-a-novel-adverse-effect-and-subsequent-successful-treatment
#18
Megan E Prouty, Ryan Fischer, Deede Liu
Hyperhidrosis, or abnormally increased sweating, is a condition that may have a primary or secondary cause. Usually medication- induced secondary hyperhidrosis manifests with generalized, rather than focal sweating. We report a 32-year-old woman with a history of palmoplantar hyperhidrosis for 15 years who presented for treatment and was prescribed oral glycopyrrolate. One month later, the palmoplantar hyperhidrosis had resolved, but she developed new persistent craniofacial sweating. After an unsuccessful trial of clonidine, oxybutynin resolved the craniofacial hyperhidrosis...
October 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28328995/effectiveness-of-interceptive-treatment-of-class-iii-malocclusions-with-skeletal-anchorage-a-systematic-review-and-meta-analysis
#19
Jorge Rodríguez de Guzmán-Barrera, Carla Sáez Martínez, Montserrat Boronat-Catalá, Jose María Montiel-Company, Vanessa Paredes-Gallardo, José Luís Gandía-Franco, José Manuel Almerich-Silla, Carlos Bellot-Arcís
Recently, new strategies for treating class III malocclusions have appeared. Skeletal anchorage appears to reduce the dentoalveolar effects while maximising the orthopaedic effect in growing patients. The purpose of this systematic review and meta-analysis is to examine the effectiveness of bone anchorage devices for interceptive treatment of skeletal class III malocclusions. Searches were made in the Pubmed, Embase, Scopus and Cochrane databases, as well as in a grey literature database, and were complemented by hand-searching...
2017: PloS One
https://www.readbyqxmd.com/read/28328823/a-case-report-of-pycnodysostosis-with-atypical-femur-fracture-diagnosed-by-next-generation-sequencing-of-candidate-genes
#20
Hyung Keun Song, Young Bae Sohn, Yong Jun Choi, Yoon-Sok Chung, Ja-Hyun Jang
RATIONALE: Pycnodysostosis is a rare autosomal recessive skeletal dysplasia characterized by short stature, craniofacial dysmorphism, acro-osteolysis, osteosclerosis, and brittle bone with poor healing. Pycnodysostosis results from the deficient activity of cathepsin K, a lysosomal cysteine protease that is encoded by CTSK. PATIENT CONCERNS: We report a Korean adult patient with pycnodysostosis and atypical femur fracture whose diagnosis was confirmed by next-generation sequencing (NGS) of candidate genes...
March 2017: Medicine (Baltimore)
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