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Craniofacial growth

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https://www.readbyqxmd.com/read/28713738/three-dimensional-planning-and-reconstruction-of-the-mandible-in-children-with-craniofacial-microsomia-type-iii-using-costochondral-grafts
#1
Omri Emodi, Yair Israel, Michal Even Almos, Dror Aizenbud, John A Van Aalst, Adi Rachmiel
BACKGROUND: In craniofacial microsomia (CFM) Type III patients, autogenous costochondral grafts (CCG) are conventionally used for the reconstruction of the ramus and condyle. The aim of this study was to describe the use of CCG in children with CFM in terms of outcomes, growth patterns, and complications. MATERIALS AND METHODS: This is a retrospective study of nine, aged 4-12 years, patients with CFM Type III, who underwent reconstruction of the mandibular ramus condyle unit by CCG...
January 2017: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/28708640/is-cleft-severity-correlated-with-intrinsic-growth-pattern-observation-from-unoperated-adult-patients-with-submucous-cleft-palate
#2
Congcong Cao, Xue Xu, Bing Shi, Qian Zheng, Jingtao Li
OBJECTIVE: This study aimed to evaluate the craniofacial morphology of unoperated adult submucous cleft palate (SMCP) patients and to explore the possible correlation between the intrinsic growth insufficiency of the maxillofacial complex and the severity of the cleft. MATERIALS AND METHODS: A total of 20 unoperated SMCP patients, 20 unoperated overt cleft palate (OCP) patients, and 32 normal controls, ages between 18 and 30, were included for cephalometric analysis...
July 13, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28699175/long-term-health-outcomes-of-adults-with-mccune-albright-syndrome
#3
S C Wong, M Zacharin
CONTEXT: McCune Albright Syndrome (MAS) is associated with numerous health problems. Comprehensive long term health problems of adults with MAS are less well defined in the literature. OBJECTIVE: Our objective is to report comprehensive health outcomes of adults with MAS (> 18 years). DESIGN: Retrospective case note review of 16 adults with MAS managed by one clinician. Results expressed as median (range) RESULTS: The study included 16 adults (7 males) with MAS...
July 12, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28697314/grainyhead-like-transcription-factors-in-craniofacial-development
#4
M R Carpinelli, M E de Vries, S M Jane, S Dworkin
Craniofacial development in vertebrates involves the coordinated growth, migration, and fusion of several facial prominences during embryogenesis, processes governed by strict genetic and molecular controls. A failure in any of the precise spatiotemporal sequences of events leading to prominence fusion often leads to anomalous facial, skull, and jaw formation-conditions termed craniofacial defects (CFDs). Affecting approximately 0.1% to 0.3% of live births, CFDs are a highly heterogeneous class of developmental anomalies, which are often underpinned by genetic mutations...
July 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28692520/disruption-of-hedgehog-signaling-by-vismodegib-leads-to-cleft-palate-and-delayed-osteogenesis-in-mice
#5
Shixian Zhang, Chengyong Wang, Changfu Xie, Yongzhen Lai, Di Wu, Guowu Gan, Weihui Chen
The function of hedgehog signaling has previously been shown to be crucial for craniofacial development. In this study, we treated C57/BL6J mice with the hedgehog pathway inhibitor vismodegib by oral gavage to establish a stable vismodegib-induced cleft palate model. At E10.5 and E12.5, mice in the experimental group were treated with 100 mg/kg of vismodegib, whereas mice in the control group were treated with solvent. The treated pregnant mice were sacrificed on E13.5, E14.5, E15.5, and E16.5. Palatal shelf growth was evaluated via histological and immunohistochemical analyses as well as palatal organ culture...
July 7, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28692499/would-be-prophylactic-administrations-of-low-concentration-of-alendronate-an-alternative-for-improving-the-craniofacial-bone-repair-a-preliminary-study-focused-in-the-period-of-cellular-differentiation-and-tissue-organization
#6
Isabella Göhringer, Carmem L Storrer Muller, Emanuelle Juliana Cunha, Giuliene Nunes De Souza Passoni, Juliana Souza Vieira, João Cesar Zielak, Rafaela Scariot, Tatiana Miranda Deliberador, Allan Fernando Giovanini
BACKGROUND: Alendronate (ALN) is a nitrogen-bisphosphonate that may induce an anabolic effect on craniofacial bone repair when administrated in low doses. Based on this premise, this study analyzed the influence of prophylactic low doses of ALN on bone healing in defects created in rabbit mandible. METHODS: A 5 × 2-mm diameter deep defect was created in the calvaria of 28 rabbits. Fourteen of these rabbits received previously 50 μg/kg of 1% sodium ALN for 4 weeks, while the other rabbits received only 0...
July 7, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28670447/short-term-hypoxic-preconditioning-promotes-prevascularization-in-3d-bioprinted-bone-constructs-with-stromal-vascular-fraction-derived-cells
#7
Mitchell A Kuss, Robert Harms, Shaohua Wu, Ying Wang, Jason B Untrauer, Mark A Carlson, Bin Duan
Reconstruction of complex, craniofacial bone defects often requires autogenous vascularized bone grafts, and still remains a challenge today. In order to address this issue, we isolated the stromal vascular fraction (SVF) from adipose tissues and maintained the phenotypes and the growth of endothelial lineage cells within SVF derived cells (SVFC) by incorporating an endothelial cell medium. We 3D bioprinted SVFC within our hydrogel bioinks and conditioned the constructs in either normoxia or hypoxia. We found that short-term hypoxic conditioning promoted vascularization-related gene expression, whereas long-term hypoxia impaired cell viability and vascularization...
June 5, 2017: RSC Advances
https://www.readbyqxmd.com/read/28654610/what-s-new-in-syndromic-craniosynostosis-surgery
#8
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/28646913/interplay-between-craniofacial-stem-cells-and-immune-stimulus
#9
REVIEW
Ruili Yang, Tingting Yu, Yanheng Zhou
Craniofacial mesenchymal stem cells (MSCs), isolated from an abundant and accessible source of craniofacial tissues, possess self-renewal and multilineage differentiation potential. It has been reported that craniofacial MSCs show elevated proliferation and regeneration capacities compared to bone marrow mesenchymal stem cells (BMMSCs). Furthermore, the immunomodulatory property has generated an emerging multidisciplinary research field that translates MSC-based therapies to the clinic for the treatment of inflammatory and autoimmune diseases...
June 24, 2017: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/28644737/circulatory-cnp-rescues-craniofacial-hypoplasia-in-achondroplasia
#10
S Yamanaka, Kazumasa Nakao, N Koyama, Y Isobe, Y Ueda, Y Kanai, E Kondo, T Fujii, M Miura, A Yasoda, Kazuwa Nakao, K Bessho
Achondroplasia is the most common genetic form of human dwarfism, characterized by midfacial hypoplasia resulting in occlusal abnormality and foramen magnum stenosis, leading to serious neurologic complications and hydrocephalus. Currently, surgery is the only way to manage jaw deformity, neurologic complications, and hydrocephalus in patients with achondroplasia. We previously showed that C-type natriuretic peptide (CNP) is a potent stimulator of endochondral bone growth of long bones and vertebrae and is also a potent stimulator in the craniofacial region, which is crucial for midfacial skeletogenesis...
June 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28643915/preface-to-coast-2016-innovators-workshop-on-personalized-and-precision-orthodontic-therapy
#11
J C Nickel, D A Covell, S A Frazier-Bowers, S Kapila, S S Huja, L R Iwasaki
OBJECTIVE: A second focused workshop explored how to transfer novel findings into clinical orthodontic practice. SETTING AND SAMPLE POPULATION: Participants met in West Palm Beach (Florida, USA), on 9-11 September 2016 for the Consortium for Orthodontic Advances in Science and Technology 2016 Innovators' Workshop (COAST). Approximately 65 registered attendees considered and discussed information from 27 to 34 speakers, 8 to 15 poster presenters and four lunch-hour focus group leaders...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28643912/mouse-models-for-the-study-of-cranial-base-growth-and-anomalies
#12
REVIEW
S R Vora
The cranial base is a central and integral component of the cranioskeleton, yet little is known about its growth. Despite the dissimilarities between human and murine cranioskeletal form, mouse models are proving instrumental in studying craniofacial growth. The objectives of this review are to summarize recent findings from numerous mouse models that display growth defects in one or more cranial base synchondroses, with accompanying changes in chondrocyte cellular zones. Many of these models also display altered growth of the cranial vault and/or the facial region...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28643908/jaw-mechanics-in-dolichofacial-and-brachyfacial-phenotypes-a-longitudinal-cephalometric-based-study
#13
L R Iwasaki, Y Liu, H Liu, J C Nickel
OBJECTIVES: To determine whether dolichofacial (Frankfort horizontal mandibular plane angle (FHMPA) ≥30°) vs brachyfacial (FHMPA ≤22°) phenotypes differ in temporomandibular joint (TMJ) loads and whether these differences correlate longitudinally with mandibular ramus height (Condylion-Gonion, Co-Go). SETTING AND SAMPLE POPULATION: Lateral and posteroanterior cephalographs from ten dolichofacial and ten brachyfacial individuals made at average ages of 6 (T1), 12 (T2) and 18 (T3) years and available online (http://www...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28643907/utilizing-three-dimensional-data-in-orthodontic-practice-and-research
#14
REVIEW
R C Solem
The recent prevalence of three dimensional (3D) images of soft and hard tissues provides a wealth of new data from which the clinician can evaluate these changes. However, evaluating this new data presents new and significant challenges. Current approaches utilizing multi-dimensional data for the precise evaluation of changes related to treatment and growth sets are reviewed. The results of current validation studies exploring approaches to these problems are reviewed, including the registration of longitudinal data using maxillary and mandibular regions of reference...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28643905/diverse-contribution-of-col2a1-expressing-cells-to-the-craniofacial-skeletal-cell-lineages
#15
N Sakagami, W Ono, N Ono
OBJECTIVES: Craniofacial skeletal development requires deliberate coordination of two distinct mechanisms of endochondral and intramembranous ossification. Col2a1-expressing cells encompass growth-associated skeletal progenitors in endochondral bones of the limb. The objective of this study was to determine the contribution of Col2a1-expressing cells to the craniofacial skeletal cell lineages. We hypothesize that Col2a1-expressing progenitors significantly contribute to various modes of ossification associated with the craniofacial development...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28639378/regulation-of-the-fate-of-dental-derived-mesenchymal-stem-cells-using-engineered-alginate-gelma-hydrogels
#16
Sahar Ansari, Patricia Sarrion, Mohammad Mahdi Hasani-Sadrabdi, Tara Aghaloo, Benjamin M Wu, Alireza Moshaverinia
Mesenchymal stem cells (MSCs) derived from dental and orofacial tissues provide an alternative therapeutic option for craniofacial bone tissue regeneration. However, there is still a need to improve stem cell delivery vehicles to regulate the fate of the encapsulated MSCs for high quality tissue regeneration. Matrix elasticity plays a vital role in MSC fate determination. Here we have prepared various hydrogel formulations based on alginate and gelatin methacryloyl (GelMA) and have encapsulated gingival mesenchymal stem cells (GMSCs) and human bone marrow MSCs (hBMMSCs) within these fabricated hydrogels...
June 22, 2017: Journal of Biomedical Materials Research. Part A
https://www.readbyqxmd.com/read/28630177/integrated-genome-and-transcriptome-sequencing-identifies-a-noncoding-mutation-in-the-genome-replication-factor-donson-as-the-cause-of-microcephaly-micromelia-syndrome
#17
Gilad D Evrony, Dwight R Cordero, Jun Shen, Jennifer N Partlow, Timothy W Yu, Rachel E Rodin, R Sean Hill, Michael E Coulter, Anh-Thu N Lam, Divya Jayaraman, Dianne Gerrelli, Diana G Diaz, Chloe Santos, Victoria Morrison, Antonella Galli, Ulrich Tschulena, Stefan Wiemann, M Jocelyne Martel, Betty Spooner, Steven C Ryu, Princess C Elhosary, Jillian M Richardson, Danielle Tierney, Christopher A Robinson, Rajni Chibbar, Dana Diudea, Rebecca Folkerth, Sheldon Wiebe, A James Barkovich, Ganeshwaran H Mochida, James Irvine, Edmond G Lemire, Patricia Blakley, Christopher A Walsh
While next-generation sequencing has accelerated the discovery of human disease genes, progress has been largely limited to the "low hanging fruit" of mutations with obvious exonic coding or canonical splice site impact. In contrast, the lack of high-throughput, unbiased approaches for functional assessment of most noncoding variants has bottlenecked gene discovery. We report the integration of transcriptome sequencing (RNA-seq), which surveys all mRNAs to reveal functional impacts of variants at the transcription level, into the gene discovery framework for a unique human disease, microcephaly-micromelia syndrome (MMS)...
June 19, 2017: Genome Research
https://www.readbyqxmd.com/read/28628911/a-carasil-patient-from-americas-with-novel-mutation-and-atypical-features-case-presentation-and-literature-review
#18
Muhammad Ibrahimi, Hiroaki Nozaki, Angelica Lee, Osamu Onodera, Raymond Reichwein, Matthew Wicklund, Mohammad El-Ghanem
OBJECTIVE: Reporting a novel mutation in the HTRA1 gene in a CARASIL patient from Americas. METHODS: Clinical presentation and neuroimaging were consistent with CARASIL. HTRA1 DNA sequencing was performed using advanced ("next generation") sequencing technology. The results revealed a homozygous missense mutation as c.616G>A (p.Gly206Arg) in the HTRA1 gene. RESULTS: A 24-year-old man with a history of chronic back pain presented with recurrent ischemic strokes...
June 21, 2017: Cerebrovascular Diseases
https://www.readbyqxmd.com/read/28611549/mutation-c-943g-t-p-ala315ser-in-fgfr2-causing-a-mild-phenotype-of-crouzon-craniofacial-dysostosis-in-a-three-generation-family
#19
Luitgard M Graul-Neumann, Eva Klopocki, Nicolai Adolphs, Martin A Mensah, Wolfram Kress
Crouzon syndrome craniofacial dysostosis type I [OMIM 123500] is caused by mutations in the gene encoding fibroblast growth factor receptor-2 (FGFR2). An overlapping phenotype with Muenke and Crouzon syndrome with acanthosis nigricans (FGFR3 mutations) is known. The clinical diagnosis can be corroborated by molecular studies in about 80-90% of the cases. No clear genotype/phenotype correlation has been identified yet. Here, we describe a second family with a mild phenotype in which the FGFR2 mutation c.943G>T leading to the amino acid substitution p...
March 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28593555/genetic-analysis-of-irf6-a-gene-involved-in-craniofacial-midline-formation-in-relation-to-pituitary-and-facial-morphology-of-patients-with-idiopathic-growth-hormone-deficiency
#20
Eline Starink, Anita C S Hokken-Koelega, Theo J Visser, Janneke Baan, Robin P Peeters, Laura C G de Graaff
INTRODUCTION: Growth hormone is secreted by the pituitary gland, which forms part of the craniofacial midline. IRF6 encodes a transcription factor involved in the development of the craniofacial midline and mutations in IRF6 are known to disturb craniofacial development. Craniofacial and pituitary development are closely related. After whole exome sequencing revealed a new mutation in IRF6 in a family with Idiopathic Growth Hormone Deficiency (IGHD), we screened the remainder of our IGHD cohort for mutations in this gene and related their genotypes to pituitary and craniofacial morphology...
June 7, 2017: Pituitary
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