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craniofacial growth and development

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https://www.readbyqxmd.com/read/28643915/preface-to-coast-2016-innovators-workshop-on-personalized-and-precision-orthodontic-therapy
#1
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/28643905/diverse-contribution-of-col2a1-expressing-cells-to-the-craniofacial-skeletal-cell-lineages
#2
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/28630177/integrated-genome-and-transcriptome-sequencing-identifies-a-noncoding-mutation-in-the-genome-replication-factor-donson-as-the-cause-of-microcephaly-micromelia-syndrome
#3
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/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
#4
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
https://www.readbyqxmd.com/read/28592837/maternally-derived-15q11-2-q13-1-duplication-and-h19-dmr-hypomethylation-in-a-patient-with-silver-russell-syndrome
#5
Sumito Dateki, Masayo Kagami, Keiko Matsubara, Kei Izumi, Satoshi Watanabe, Akiko Nakatomi, Tatsuro Kondoh, Maki Fukami, Hiroyuki Moriuchi
Silver-Russell syndrome (SRS) is a congenital developmental disorder characterized by intrauterine and postnatal growth failure, craniofacial features (including a triangular shaped face and broad forehead), relative macrocephaly, protruding forehead, body asymmetry and feeding difficulties. Hypomethylation of the H19 differentially methylated region (DMR) on chromosome 11p15.5 is the most common cause of the SRS phenotype. We report the first SRS patient with hypomethylation of the H19-DMR and maternally derived 15q11...
June 8, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28574949/minor-suture-fusion-in-syndromic-craniosynostosis
#6
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/28566514/modelling-human-skull-growth-a-validated-computational-model
#7
Joseph Libby, Arsalan Marghoub, David Johnson, Roman H Khonsari, Michael J Fagan, Mehran Moazen
During the first year of life, the brain grows rapidly and the neurocranium increases to about 65% of its adult size. Our understanding of the relationship between the biomechanical forces, especially from the growing brain, the craniofacial soft tissue structures and the individual bone plates of the skull vault is still limited. This basic knowledge could help in the future planning of craniofacial surgical operations. The aim of this study was to develop a validated computational model of skull growth, based on the finite-element (FE) method, to help understand the biomechanics of skull growth...
May 2017: Journal of the Royal Society, Interface
https://www.readbyqxmd.com/read/28562424/biology-of-bone-formation-fracture-healing-and-distraction-osteogenesis
#8
Christopher M Runyan, Kyle S Gabrick
Distraction osteogenesis is a bone-regenerative process in which an osteotomy is followed by distraction of the surrounding vascularized bone segments, with formation of new bone within the distraction gap. Distraction osteogenesis is efficacious for reconstructing critical sized bony defects in the appendicular and craniofacial skeleton. To provide opportunity to expand applications of distraction osteogenesis, it is important to have a thorough understanding of the underlying molecular biology and physiology of bone development and fracture healing...
May 29, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28558659/the-cyprinodon-variegatus-genome-reveals-gene-expression-changes-underlying-differences-in-skull-morphology-among-closely-related-species
#9
Ezra S Lencer, Wesley C Warren, Richard Harrison, Amy R McCune
BACKGROUND: Understanding the genetic and developmental origins of phenotypic novelty is central to the study of biological diversity. In this study we identify modifications to the expression of genes at four developmental stages that may underlie jaw morphological differences among three closely related species of pupfish (genus Cyprinodon) from San Salvador Island, Bahamas. Pupfishes on San Salvador Island are trophically differentiated and include two endemic species that have evolved jaw morphologies unlike that of any other species in the genus Cyprinodon...
May 30, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28548091/cellular-interplay-via-cytokine-hierarchy-causes-pathological-cardiac-hypertrophy-in-raf1-mutant-noonan-syndrome
#10
Jiani C Yin, Mathew J Platt, Xixi Tian, Xue Wu, Peter H Backx, Jeremy A Simpson, Toshiyuki Araki, Benjamin G Neel
Noonan syndrome (NS) is caused by mutations in RAS/ERK pathway genes, and is characterized by craniofacial, growth, cognitive and cardiac defects. NS patients with kinase-activating RAF1 alleles typically develop pathological left ventricular hypertrophy (LVH), which is reproduced in Raf1(L613V/+) knock-in mice. Here, using inducible Raf1(L613V) expression, we show that LVH results from the interplay of cardiac cell types. Cardiomyocyte Raf1(L613V) enhances Ca(2+) sensitivity and cardiac contractility without causing hypertrophy...
May 26, 2017: Nature Communications
https://www.readbyqxmd.com/read/28545565/the-combination-of-nano-calcium-sulfate-platelet-rich-plasma-gel-scaffold-with-bmp2-gene-modified-mesenchymal-stem-cells-promotes-bone-regeneration-in-rat-critical-sized-calvarial-defects
#11
Zunpeng Liu, Xue Yuan, Gabriela Fernandes, Rosemary Dziak, Ciprian N Ionita, Chunyi Li, Changdong Wang, Shuying Yang
BACKGROUND: Mesenchymal stem cells (MSCs) can be differentiated into an osteoblastic lineage in the presence of growth factors (GFs). Platelet-rich plasma (PRP), which can be easily isolated from whole blood, contains a large amount of GFs, and, therefore, promotes bone growth and regeneration. The main goal of this work was to develop and investigate the effect of a new sandwich-like bone scaffold which combines a nano-calcium sulfate (nCS) disc along with PRP fibrin gel (nCS/PRP) with BMP2-modified MSCs on bone repair and regeneration in rat critical-sized calvarial defects...
May 25, 2017: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/28536534/a-bio-realistic-finite-element-model-to-evaluate-the-effect-of-masticatory-loadings-on-mouse-mandible-related-tissues
#12
Alexander Tsouknidas, Lucia Jimenez-Rojo, Evangelos Karatsis, Nikolaos Michailidis, Thimios A Mitsiadis
Mice are arguably the dominant model organisms for studies investigating the effect of genetic traits on the pathways to mammalian skull and teeth development, thus being integral in exploring craniofacial and dental evolution. The aim of this study is to analyse the functional significance of masticatory loads on the mouse mandible and identify critical stress accumulations that could trigger phenotypic and/or growth alterations in mandible-related structures. To achieve this, a 3D model of mouse skulls was reconstructed based on Micro Computed Tomography measurements...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28503387/rubinstein-taybi-syndrome-associated-with-pituitary-macroadenoma-a-case-report
#13
Yasamin Olyaei, J Manuel Sarmiento, Serguei I Bannykh, Doniel Drazin, Robert T Naruse, Wesley King
Rubinstein-Taybi Syndrome (RSTS) is an autosomal dominant disorder that is classically characterized by prenatal and postnatal growth restriction, microcephaly, dysmorphic craniofacial features, broad thumbs and toes, and intellectual disability. We describe the first reported case of a pituitary macroadenoma associated with RSTS. A 39-year-old Caucasian female with a past medical history of RSTS diagnosed at age two was found to have a gadolinium-enhancing pituitary mass on magnetic resonance imaging (MRI) of the brain three years ago during workup for migraine-like headaches...
April 11, 2017: Curēus
https://www.readbyqxmd.com/read/28496510/constrictive-pericarditis-and-primary-amenorrhea-with-syndactyly-in-an-iranian-female-mulibrey-nanism-syndrome
#14
Tahereh Davarpasand, Maryam Sotoudeh Anvari, Mohammad Naderan, Mohammad Ali Boroumand, Hossein Ahmadi
Mulibrey nanism is a rare autosomal recessive syndrome caused by a mutation in the TRIM37 gene with severe growth retardation and multiple organ involvement. Early diagnosis is important because 50% of the patients develop congestive heart failure owing to constrictive pericarditis, and this condition plays a critical role in the final prognosis. A 37-year-old female patient presented with symptoms of dyspnea on exertion and shortness of breath. She had severe growth failure and craniofacial dysmorphic feature...
October 3, 2016: Journal of Tehran Heart Center
https://www.readbyqxmd.com/read/28496392/differences-in-the-management-of-pediatric-facial-trauma
#15
REVIEW
Tara L Braun, Amy S Xue, Renata S Maricevich
Craniofacial trauma is common in the pediatric population, with most cases limited to soft tissue and dentoalveolar injury. Although facial fractures are relatively rare in children compared with adults, they are often associated with severe injury and cause significant morbidity and disability. Initial evaluation of a child with facial trauma generally involves stabilizing the patient and identifying any severe concomitant injuries before diagnosing and managing facial injuries. The management of pediatric facial fractures is relatively more conservative than that of adults, and nonsurgical management is preferred when possible to prevent the disruption of future growth and development...
May 2017: Seminars in Plastic Surgery
https://www.readbyqxmd.com/read/28487368/matrix-gla-protein-deficiency-impairs-nasal-septum-growth-causing-midface-hypoplasia
#16
Juliana Marulanda, Hazem Eimar, Marc D McKee, Michelle Berkvens, Valentin Nelea, Hassem Roman, Teresa Borrás, Faleh Tamimi, Mathieu Ferron, Monzur Murshed
Genetic and environmental factors may lead to abnormal growth of the orofacial skeleton affecting the overall structure of the face. In the current study, we investigated the craniofacial abnormalities in a mouse model for Keutel syndrome, a rare genetic disease caused by loss-of-function mutations in the matrix Gla protein (MGP) gene. Keutel syndrome patients show diffuse ectopic calcification of cartilaginous tissues and impaired midface development. Our comparative cephalometric analyses of micro-CT images revealed a severe midface hypoplasia in Mgp-/- mice...
May 9, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28468212/craniofacial-manifestations-in-severe-nemaline-myopathy
#17
Yunfeng Xue, Pilar L Magoulas, John O Wirthlin, Edward P Buchanan
Nemaline myopathy (NM) is a rare congenital muscular disease characterized by the presence of rod (nemaline) bodies visualized on muscle biopsy. The disease is genetically and clinically heterogeneous, and the age of onset can vary from neonate to adult. Patients typically present initially with diffuse muscle weakness and hypotonia. The disease also afflicts facial musculature and can cause anomalous facial growth and development. The authors report a patient of early onset NM with significant craniofacial abnormalities...
May 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28468136/craniofacial-deviations-in-the-children-with-nasal-obstruction
#18
Ayca Ant, Yusuf Kemal Kemaloglu, Metin Yilmaz, Alper Dilci
Nasal obstruction mainly caused by adenoid hypertrophy in children affects the craniofacial growth and development process, and the craniofacial deviations and/or differences reported in the children are very similar to those in the adults with obstructive sleep apnea syndrome (OSAS). The authors aimed to look for relationships of the linear craniofacial dimensions in the children suffering from nasal obstruction with age, degree of clinical nasal obstruction score (CNOS), and relative size of the adenoid mass within the nasopharynx in their study...
May 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28453788/usage-of-dexamethasone-increases-the-risk-of-cranial-neural-crest-dysplasia-in-the-chick-embryo
#19
Xin Cheng, He Li, Yu Yan, Guang Wang, Zachary Berman, Manli Chuai, Xuesong Yang
Dexamethasone (Dex) is commonly used in the treatment of a variety of benign and malignant conditions. Unfortunately, although it has a variety of teratogenic effects, it remains used in clinical practice for pregnant women mainly due to limited alternatives. However, there is limited knowledge of the mechanisms that lead to the observed teratogenic effects. In this study, the effects of Dex during embryogenesis on neural crest development were evaluated in the early chick embryos. First, we demonstrated that 100µL 10-6 M Dex treatment leads to craniofacial developmental defects, and also retards embryo growth and plausibly can cause embryo demise...
April 27, 2017: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/28445472/unsuspected-osteochondroma-like-outgrowths-in-the-cranial-base-of-hereditary-multiple-exostoses-patients-and-modeling-and-treatment-with-a-bmp-antagonist-in-mice
#20
Sayantani Sinha, Christina Mundy, Till Bechtold, Federica Sgariglia, Mazen M Ibrahim, Paul C Billings, Kristen Carroll, Eiki Koyama, Kevin B Jones, Maurizio Pacifici
Hereditary Multiple Exostoses (HME) is a rare pediatric disorder caused by loss-of-function mutations in the genes encoding the heparan sulfate (HS)-synthesizing enzymes EXT1 or EXT2. HME is characterized by formation of cartilaginous outgrowths-called osteochondromas- next to the growth plates of many axial and appendicular skeletal elements. Surprisingly, it is not known whether such tumors also form in endochondral elements of the craniofacial skeleton. Here, we carried out a retrospective analysis of cervical spine MRI and CT scans from 50 consecutive HME patients that included cranial skeletal images...
April 2017: PLoS Genetics
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