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Craniofacial growth

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https://www.readbyqxmd.com/read/29752281/increased-fgf8-signaling-promotes-chondrogenic-rather-than-osteogenic-development-in-the-embryonic-skull
#1
Linnea Schmidt, Aftab Taiyab, Vida Senkus Melvin, Kenneth L Jones, Trevor Williams
The bones of the cranial vault are formed directly from mesenchymal cells through intramembranous ossification rather than via a cartilage intermediate. Formation and growth of the skull bones involves the interaction of multiple cell:cell signaling pathways, with Fibroblast Growth Factors (FGFs) and their receptors exerting prominent influence. Mutations within this pathway are the most frequent cause of craniosynostosis, which is a common human craniofacial developmental abnormality characterized by the premature fusion of the cranial sutures...
May 10, 2018: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29750247/tp53-dependent-and-independent-signaling-underlies-the-pathogenesis-and-possible-prevention-of-acrofacial-dysostosis-cincinnati-type
#2
Kristin E N Watt, Cynthia L Neben, Shawn Hall, Amy E Merrill, Paul A Trainor
Ribosome biogenesis is a global process required for growth and proliferation in all cells, but disruptions in this process surprisingly lead to tissue-specific phenotypic disorders termed ribosomopathies. Pathogenic variants in the RNA Polymerase (Pol) I subunit POLR1A cause Acrofacial Dysostosis - Cincinnati type, which is characterized by craniofacial and limb anomalies. In a zebrafish model of Acrofacial Dysostosis - Cincinnati type, we demonstrate that polr1a-/- mutants exhibit deficient 47S rRNA transcription, reduced monosomes and polysomes and, consequently, defects in protein translation...
May 10, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29749885/assessing-calvarial-vault-constriction-associated-with-helmet-therapy-in-deformational-plagiocephaly
#3
Erin C Peterson, Kamlesh B Patel, Gary B Skolnick, Kristin D Pfeifauf, Katelyn N Davidson, Matthew D Smyth, Sybill D Naidoo
OBJECTIVE Deformational plagiocephaly and/or brachycephaly (DPB) is a cranial flattening frequently treated in pediatric craniofacial centers. The standard of care for DPB involves patient positioning or helmet therapy. Orthotic therapy successfully reduces cranial asymmetry, but there is concern over whether the orthotics have the potential to restrict cranial growth. Previous research addressing helmet safety was limited by lack of volume measurements and serial data. The purpose of this study was to directly compare head growth data in patients with DPB between those who underwent helmet therapy and those who received repositioning therapy...
May 11, 2018: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29746183/msx2-marks-spatially-restricted-populations-of-mesenchymal-precursors
#4
N Sakagami, Y Matsushita, S Syklawer-Howle, H M Kronenberg, W Ono, N Ono
Craniofacial development requires a set of patterning codes that define the identities of postmigratory mesenchymal cells in a region-specific manner, in which locally expressed morphogens, including fibroblast growth factors (FGFs) and bone morphogenetic proteins (BMPs), provide instructive cues. Msx2, a bona fide target of BMP signaling, is a transcription factor regulating Runx2 and osterix (Osx), whose mutations are associated with cranial deformities in humans. Here we show that Msx2 defines osteo-chondro precursor cells in specific regions of the craniofacial mesenchyme at the postmigratory stage, particularly in the mandibular process and the posterior cranial vault...
May 1, 2018: Journal of Dental Research
https://www.readbyqxmd.com/read/29739404/a-child-with-multiple-congenital-anomalies-due-to-partial-trisomy-7q22-1-%C3%A2-qter-resulting-from-a-maternally-inherited-balanced-translocation-a-case-report-and-review-of-literature
#5
C S Paththinige, N D Sirisena, U G I U Kariyawasam, R C Ediriweera, P Kruszka, M Muenke, V H W Dissanayake
BACKGROUND: Parental balanced reciprocal translocations can result in partial aneuploidies in the offspring due to unbalanced meiotic segregation during gametogenesis. Herein, we report the phenotypic and molecular cytogenetic characterization of a 2 years and 4 months old female child with partial trisomy 7q22 → qter. This is the first such reported case resulting from a parental balanced translocation involving the long arms of chromosomes 7 and 14. The phenotype of the proband was compared with that of previously reported cases of trisomy 7q21 → qter or 7q22 → qter resulting from parental balanced translocations...
May 8, 2018: BMC Medical Genomics
https://www.readbyqxmd.com/read/29722897/mucopolysaccharidosis-vi-and-effects-on-growth-of-the-apical-bases-a-case-report
#6
Moema Ferreira Dos Reis, Lucas Rodrigues Pinheiro, Maria das Graças Rodrigues Pinheiro, Haroldo Amorim de Almeida, Patrícia do Socorro Queiroz Feio, Sâmia Cordovil de Almeida, Isabel Cristina Neves de Souza, Roberto Giugliani, Ida Vanessa Doederlein Schwartz, Rosely Maria Dos Santos Cavaleiro, João de Jesus Viana Pinheiro, Luiz Carlos Santana da Silva
OBJECTIVE: Mucopolysaccharidosis (MPS) VI is a rare disorder caused by an autosomal recessive mutation in the short arm of chromosome 5 (5q12-13) leading to an N-acetylgalactosamine-sulfatase lysosomal enzyme deficiency and numerous systemic clinical changes. The oral and maxillofacial complex may exhibit tooth eruption anomalies, macroglossia, gingival hypertrophy, mouth breathing, increased lower facial height, open bite, retrognathia, and progressive TMJ arthrosis. This report describes craniofacial growth changes in two MPS VI patients, sisters and daughters of outbred parents, who were longitudinally monitored from 11 to 15 years of age...
May 3, 2018: Special Care in Dentistry
https://www.readbyqxmd.com/read/29708396/evaluation-of-characteristics-of-the-craniofacial-complex-and-dental-maturity-in-girls-with-central-precocious-puberty
#7
Hee-Kyung Lee, Sung-Hwan Choi, Dong Fan, Kyung-Mi Jang, Min-Seon Kim, Chung-Ju Hwang
OBJECTIVES: To identify unique characteristics of the craniofacial complex and dental maturity in girls with central precocious puberty (CPP). MATERIALS AND METHODS: This study included 34 Korean girls with idiopathic CPP (mean age, 8.6 ± .5 years) and 28 normal healthy girls of the same chronological age. An initial evaluation of the growth pattern of the craniofacial complex and dental maturity was conducted by analyzing lateral cephalometric and panoramic radiographs...
April 30, 2018: Angle Orthodontist
https://www.readbyqxmd.com/read/29706218/prediction-of-the-occurrence-and-severity-of-mandibular-incisor-crowding-in-the-early-mixed-dentition-using-craniofacial-parameters
#8
Ahmadreza Sardarian, Faezeh Ghaderi
INTRODUCTION: With the recent interest in esthetics at an early age, prediction of mandibular incisor crowding is of significant importance. Since dental arch development is related to craniofacial growth, we conducted a cohort study to find a regression model for mandibular incisor crowding based on various craniofacial parameters in children. METHODS: A total of 250 children, all in the early mixed dentition, were selected randomly by cluster sampling from primary schools...
May 2018: American Journal of Orthodontics and Dentofacial Orthopedics
https://www.readbyqxmd.com/read/29702739/midfacial-growth-patterns-in-males-from-newborn-to-5-years-old-based-on-computed-tomography
#9
Andrej Evteev, Anatoliy Anikin, Leonid Satanin
OBJECTIVES: Growth patterns of the human facial skeleton have been of great interest and importance for biological anthropologists, forensic scientists, craniofacial surgeons, and orthopedists. Nevertheless, growth trends of the facial skeleton in infancy and early childhood are still poorly known and clinical CT data have been insufficiently used for studying craniofacial ontogeny. The purpose of this study was to provide a comprehensive quantitative description of human midfacial ontogeny in infancy and early childhood, and to contribute to debates regarding the role of modularity vs...
April 27, 2018: American Journal of Human Biology: the Official Journal of the Human Biology Council
https://www.readbyqxmd.com/read/29696412/characterization-of-the-perinatal-mandible-growth-pattern-preliminary-results
#10
F Remy, Y Godio-Raboutet, E Verna, G Gorincour, P Bonnaure, P Adalian, L Guyot, L Thollon
PURPOSE: The fetal development of the mandible is nowadays quite understood, and it is already known that craniofacial growth reaches its highest rate during the first 5 years of postnatal life. However, there are very few data focusing on the perinatal period. Thus, the present article is addressing this concern by studying the mandible morphology and its evolution around the birth with a morphometric method. METHODS: Thirty-one mandibles modelled in three dimensions from post-mortem CT-scans were analyzed...
April 25, 2018: Surgical and Radiologic Anatomy: SRA
https://www.readbyqxmd.com/read/29694940/gene-gene-interaction-for-nonsyndromic-cleft-lip-with-or-without-cleft-palate-in-chilean-case-parent-trios
#11
José Suazo, José Luis Santos, Alicia Colombo, Rosa Pardo
OBJECTIVE: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a birth defect for which several genes susceptibility genes been proposed. Consequently, it has been suggested that many of these genes belong to common inter-related pathways during craniofacial development gene-gene interaction. We evaluated the presence of gene-gene interaction for single nucleotide polymorphisms within interferon regulatory factor 6 (IRF6), muscle segment homeobox 1 (MSX1), bone morphogenetic protein 4 (BMP4) and transforming growth factor 3 (TGFB3) genes in NSCL/P risk in Chilean case-parent trios...
April 18, 2018: Archives of Oral Biology
https://www.readbyqxmd.com/read/29682221/mandible-protraction-alters-type-i-collagen-osteocalcin-and-osteonectin-gene-expression-in-adult-mice-condyle
#12
Patricia Valerio, Filipi Perfeito, Livia P Moura, Deborah N Ribeiro, Simone O A Fernandes, Almir S Martins, Maria F Leite
Mandible condyle remodeling is a great challenge on craniofacial growth studies. The great majority of the reports deals with growing period. However, there is a great necessity to clarify the importance of functional stimulation on adult mandible condyle remodeling. By using an adult mouse model, we investigated the influence of mandible forwarding on condyle remodeling and gene expression by bone forming cells. Tomographic and scintigraphic evaluations showed sagittal growth and cell activity enhancement...
September 2017: Annali di Stomatologia
https://www.readbyqxmd.com/read/29679588/growth-and-development-of-craniofacial-structures-in-patients-at-different-ages-with-unrepaired-submucous-cleft-palate
#13
Congcong Cao, Xue Xu, Qian Zheng, Bing Shi, Jingtao Li, Yan Wang
PURPOSE: Submucous cleft palate (SMCP) is a particular subtype of cleft palate deformity; research related to the craniofacial features of patients with SMCP is comparatively rare. The study objective was to perform a cephalometric comparison of the craniofacial features of patients with SMCP and non-cleft controls at different ages. MATERIALS AND METHODS: The sample in this cross-sectional study was composed of 2 groups: SMCP patients and non-cleft controls. The primary predictor variables were study group (cleft and non-cleft) and age...
March 28, 2018: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29672982/juvenile-divergence-in-adaptive-traits-among-seven-sympatric-fish-eco-morphs-arises-before-moving-to-different-lacustrine-habitats
#14
Evgeny V Esin, Grigorii N Markevich, Michail Yu Pichugin
Identifying the mechanisms initiating sympatric diversification in vertebrates has remained a conceptual challenge. Here we analyze an assemblage of sympatric charr (Salvelinus malma) morphs from landlocked Lake Kronotskoe basin as a model to uncover the divergence pathways in freshwater fishes during the early life history stages. All morphs have distinct developmental biology, but a similar developmental rate retardation compared to the ancestor. Our study reveals that adult morphological differences, which acquire functionality at maturation, originate in the early juvenile stages due to heterochrony in skeletogenesis and allometric changes triggered by variation in metabolic activity...
April 19, 2018: Journal of Evolutionary Biology
https://www.readbyqxmd.com/read/29668079/co-culture-of-adipose-derived-stem-cells-and-chondrocytes-on-three-dimensionally-printed-bioscaffolds-for-craniofacial-cartilage-engineering
#15
Robert J Morrison, Hassan B Nasser, Khaled N Kashlan, David A Zopf, Derek J Milner, Colleen L Flanangan, Matthew B Wheeler, Glenn E Green, Scott J Hollister
OBJECTIVES/HYPOTHESIS: Reconstruction of craniofacial cartilagenous defects are among the most challenging surgical procedures in facial plastic surgery. Bioengineered craniofacial cartilage holds immense potential to surpass current reconstructive options, but limitations to clinical translation exist. We endeavored to determine the viability of utilizing adipose-derived stem cell-chondrocyte co-culture and three-dimensional (3D) printing to produce 3D bioscaffolds for cartilage tissue engineering...
April 18, 2018: Laryngoscope
https://www.readbyqxmd.com/read/29661661/three-dimensional-study-of-31-cases-of-synostotic-anterior-plagiocephaly-before-and-after-surgical-management-the-lille-protocol
#16
Ambre Simon, Emmanuelle Bocquet, Philippe Pellerin, Matthieu Vinchon, Patrick Dhellemmes, Véronique Martinot, Alexis Wolber, Clotilde Calibre, Philippe Charlier, Pierre Guerreschi
Synostotic anterior plagiocephaly is a rare pathological cranial malformation. Therapeutic options are rarely studied due to the rarity of the malformation and difficulties in diagnosis and care management. The objective of this study was to analyze the results obtained with the Lille protocol based on 62 CT-scans done before and after surgery in 31 patients. A specific analysis was designed for this work. Nine cephalometric measures enabled to evidence on each CT-Scan the corrections made on the fronto-orbital bandeau and the potential impact of surgery on the craniofacial structures...
March 28, 2018: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/29658509/-experimental-approaches-to-the-investigation-of-behavioral-disorders-associated-with-prenatal-alcohol-exposure
#17
E V Razumkina, P K Anokhin, T V Proskuryakova, I Yu Shamakina
Fetal alcohol spectrum disorders (FASD) is an umbrella term which covers a wide range of deficits in prenatal and postnatal growth, anatomy and CNS functions produced by prenatal alcohol exposure. The most severe form of FASD is fetal alcohol syndrome (FAS) characterized by additional specific craniofacial and brain malformations. Despite a high prevalence and extensive clinical studies, the fundamental mechanisms of FASD are still poorly understood. Thereby, experimental models, which allow better control for both socio-environmental and genetic factors, are critical to our understanding of FASD...
2018: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/29656860/truncating-variants-in-naa15-are-associated-with-variable-levels-of-intellectual-disability-autism-spectrum-disorder-and-congenital-anomalies
#18
Hanyin Cheng, Avinash V Dharmadhikari, Sylvia Varland, Ning Ma, Deepti Domingo, Robert Kleyner, Alan F Rope, Margaret Yoon, Asbjørg Stray-Pedersen, Jennifer E Posey, Sarah R Crews, Mohammad K Eldomery, Zeynep Coban Akdemir, Andrea M Lewis, Vernon R Sutton, Jill A Rosenfeld, Erin Conboy, Katherine Agre, Fan Xia, Magdalena Walkiewicz, Mauro Longoni, Frances A High, Marjon A van Slegtenhorst, Grazia M S Mancini, Candice R Finnila, Arie van Haeringen, Nicolette den Hollander, Claudia Ruivenkamp, Sakkubai Naidu, Sonal Mahida, Elizabeth E Palmer, Lucinda Murray, Derek Lim, Parul Jayakar, Michael J Parker, Stefania Giusto, Emanuela Stracuzzi, Corrado Romano, Jennifer S Beighley, Raphael A Bernier, Sébastien Küry, Mathilde Nizon, Mark A Corbett, Marie Shaw, Alison Gardner, Christopher Barnett, Ruth Armstrong, Karin S Kassahn, Anke Van Dijck, Geert Vandeweyer, Tjitske Kleefstra, Jolanda Schieving, Marjolijn J Jongmans, Bert B A de Vries, Rolph Pfundt, Bronwyn Kerr, Samantha K Rojas, Kym M Boycott, Richard Person, Rebecca Willaert, Evan E Eichler, R Frank Kooy, Yaping Yang, Joseph C Wu, James R Lupski, Thomas Arnesen, Gregory M Cooper, Wendy K Chung, Jozef Gecz, Holly A F Stessman, Linyan Meng, Gholson J Lyon
N-alpha-acetylation is a common co-translational protein modification that is essential for normal cell function in humans. We previously identified the genetic basis of an X-linked infantile lethal Mendelian disorder involving a c.109T>C (p.Ser37Pro) missense variant in NAA10, which encodes the catalytic subunit of the N-terminal acetyltransferase A (NatA) complex. The auxiliary subunit of the NatA complex, NAA15, is the dimeric binding partner for NAA10. Through a genotype-first approach with whole-exome or genome sequencing (WES/WGS) and targeted sequencing analysis, we identified and phenotypically characterized 38 individuals from 33 unrelated families with 25 different de novo or inherited, dominantly acting likely gene disrupting (LGD) variants in NAA15...
April 9, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29651721/the-correlation-between-growth-hormone-receptor-ghr-polymorphism-and-obstructive-sleep-apnea-syndrome-among-the-han-and-hani-population-in-china
#19
Juanjuan Ji, Yunwei Yang, Yan Lin, Xudong Li, Xiaoguang Wu, Xi Yang, Ling Zhong, Ying Tang, Zhiyong Huang, Xiaoguang He
Obstructive sleep apnea syndrome (OSAS) is a common health problem that is associated with abnormality in craniofacial morphology. The growth hormone receptor (GHR) belongs to the cytokine receptor superfamily and mediates the majority of growth hormone signaling, which, among other functions, determines mandibular growth and development. The aim of this study was to determine if correlations exist between single nucleotide polymorphisms (SNPs) in the GHR gene and OSAS in the Han or Hani ethnic groups in China...
April 13, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/29651398/teenage-rhinoplasty
#20
Abdoljalil Kalantar-Hormozi, Roozbeh Ravar, Ali Abbaszadeh-Kasbi, Nazanin Rita Davai
BACKGROUND: Rhinoplasty is among the most popular aesthetic surgical procedures selected by teenagers. When it comes to teenagers' rhinoplasty, almost all surgeons believe that modified techniques should be considered because the nose is still growing. In this article, we prospectively followed teenagers who had undergone septorhinoplasty to assess the safety of procedure and its possible complications. METHODS: All the patients who were under 18 years old but for those who had a bleeding disorder, allergic rhinitis, and cleft lip nose were included in the study...
January 2018: World Journal of Plastic Surgery
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