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Craniofacial growth

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https://www.readbyqxmd.com/read/29164113/chemokine-signaling-during-midline-epithelial-seam-disintegration-facilitates-palatal-fusion
#1
Christiaan M Suttorp, Niels A Cremers, René van Rheden, Raymond F Regan, Pia Helmich, Sven van Kempen, Anne M Kuijpers-Jagtman, Frank A D T G Wagener
Disintegration of the midline epithelial seam (MES) is crucial for palatal fusion, and failure results in cleft palate. Palatal fusion and wound repair share many common signaling pathways related to epithelial-mesenchymal cross-talk. We postulate that chemokine CXCL11, its receptor CXCR3, and the cytoprotective enzyme heme oxygenase (HO), which are crucial during wound repair, also play a decisive role in MES disintegration. Fetal growth restriction and craniofacial abnormalities were present in HO-2 knockout (KO) mice without effects on palatal fusion...
2017: Frontiers in Cell and Developmental Biology
https://www.readbyqxmd.com/read/29162626/identification-of-isthmin-1-as-a-novel-clefting-and-craniofacial-patterning-gene-in-humans
#2
Lisa A Lansdon, Benjamin W Darbro, Aline L Petrin, Alissa M Hulstrand, Jennifer M Standley, Rachel B Brouillette, Abby Long, M Adela Mansilla, Robert A Cornell, Jeffery C Murray, Douglas W Houston, J Robert Manak
Orofacial clefts are one of the most common birth defects, affecting 1-2 per 1000 births, and have a complex etiology. High-resolution array-based comparative genomic hybridization has increased the ability to detect copy number variants that can be causative for complex diseases such as cleft lip and/or palate. Utilizing this technique on 97 non-syndromic cleft lip and palate cases and 43 cases with cleft palate only, we identified a heterozygous deletion of Isthmin 1 in one affected case, as well as a deletion in a second case which removes putative 3' regulatory information...
November 21, 2017: Genetics
https://www.readbyqxmd.com/read/29161774/building-trophic-specializations-that-result-in-substantial-niche-partitioning-within-a-young-adaptive-radiation
#3
Luz Patricia Hernandez, Dominique Adriaens, Christopher H Martin, Peter C Wainwright, Bert Masschaele, Manuel Dierick
Dietary partitioning often accompanies the increased morphological diversity seen during adaptive radiations within aquatic systems. While such niche partitioning would be expected in older radiations, it is unclear how significant morphological divergence occurs within a shorter time period. Here we show how differential growth in key elements of the feeding mechanism can bring about pronounced functional differences among closely related species. An incredibly young adaptive radiation of three Cyprinodon species residing within hypersaline lakes in San Salvador Island, Bahamas, has recently been described...
November 21, 2017: Journal of Anatomy
https://www.readbyqxmd.com/read/29157545/temporomandibular-joint-imaging
#4
REVIEW
Dania Tamimi, Elnaz Jalali, David Hatcher
The temporomandibular joint (TMJ) is an anatomically and biomechanically complex structure. Understanding how this structure grows and functions is essential to accurate radiographic evaluation. This article discusses the anatomy, function, and growth and development of the TMJ and how growth changes can affect the morphology of the craniofacial structures. Accordingly, the radiographic appearance of the entities that may alter the TMJ are discussed, including developmental, degenerative, inflammatory, and traumatic changes...
January 2018: Radiologic Clinics of North America
https://www.readbyqxmd.com/read/29156629/reconstruction-of-craniomaxillofacial-bone-defects-using-tissue-engineering-strategies-with-injectable-and-non-injectable-scaffolds
#5
REVIEW
Bipin Gaihre, Suren Uswatta, Ambalangodage C Jayasuriya
Engineering craniofacial bone tissues is challenging due to their complex structures. Current standard autografts and allografts have many drawbacks for craniofacial bone tissue reconstruction; including donor site morbidity and the ability to reinstate the aesthetic characteristics of the host tissue. To overcome these problems; tissue engineering and regenerative medicine strategies have been developed as a potential way to reconstruct damaged bone tissue. Different types of new biomaterials; including natural polymers; synthetic polymers and bioceramics; have emerged to treat these damaged craniofacial bone tissues in the form of injectable and non-injectable scaffolds; which are examined in this review...
November 20, 2017: Journal of Functional Biomaterials
https://www.readbyqxmd.com/read/29156093/functional-and-molecular-outcomes-of-the-human-masticatory-muscles
#6
REVIEW
Gaetano Isola, Giuseppe Anastasi, Giovanni Matarese, Ray C Williams, Giuseppina Cutroneo, Pietro Bracco, Maria Grazia Piancino
The masticatory muscles achieve a broad range of different activities such as chewing, sucking, swallowing and speech. In order to accomplish these duties, masticatory muscles have a unique and heterogeneous structure and fibre composition, enabling them to produce their strength and contraction speed largely dependent on their motor units and myosin proteins that can change in response to genetic and environmental factors. Human masticatory muscles express unique myosin isoforms, including a combination of thick fibers, expressing myosin light chains (MyLC) and myosin class I and II heavy chains (MyHC) -IIA, -IIX, α-cardiac, embryonic and neonatal and thin fibers, respectively...
November 20, 2017: Oral Diseases
https://www.readbyqxmd.com/read/29142765/duplication-of-19p13-3-in-11-year-old-male-patient-with-dysmorphic-features-and-intellectual-disability-a-review
#7
Irina Novikova, Paushpala Sen, Ann Manzardo, Merlin G Butler
We present a clinical report of an 11-year-old male patient with an interstitial duplication of 19p13.3 (829 kb in size) at genomic coordinates 3,804,495-4,033,722 bp (hg19) identified by chromosomal microarray analysis and review the literature from nine published reports adding knowledge regarding this chromosomal anomaly and clinical outcomes. The size of the duplication ranged from 0.83 to 8.9 Mb in the nine individuals. The young boy in our report was dysmorphic with microcephaly, abnormal craniofacial features, intellectual disability, aggression, and a heart murmur...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29142173/effect-of-dibutyltin-on-placental-and-fetal-toxicity-in-rat
#8
Satoshi Furukawa, Naho Tsuji, Yoshiyuki Kobayashi, Yoshikazu Yamagishi, Seigo Hayashi, Masayoshi Abe, Yusuke Kuroda, Masayuki Kimura, Chisato Hayakawa, Akihiko Sugiyama
In order to elucidate the effect of chorioallantoic and yolk sac placenta on the embryonic/fetal toxicity in dibutyltin dichloride (DBTCl)-exposed rats, we examined the histopathological changes and the tissue distribution of dibutyltin in the placentas and embryos. DBTCl was orally administered to the groups at doses of 0 mg/kg during gestation days (GD)s 7-9 (control group) and 20 mg/kg during GDs 7-9 (GD7-9 treated group), and GDs 10-12 (GD10-12 treated group). The total fetal mortality was increased, and malformations characterized by craniofacial dysmorphism were detected in the GD7-9 treated group...
2017: Journal of Toxicological Sciences
https://www.readbyqxmd.com/read/29133259/loss-of-pit-2-results-in-abnormal-bone-development-and-decreased-bone-mineral-density-and-length-in-mice
#9
Shunsuke Yamada, Mary C Wallingford, Suhaib Borgeia, Timothy C Cox, Cecilia M Giachelli
Normal bone mineralization requires phosphate oversaturation in bone matrix vesicles, as well as normal regulation of phosphate metabolism via the interplay among bone, intestine, and kidney. In turn, derangement of phosphate metabolism greatly affects bone function and structure. The type III sodium-dependent phosphate transporters, PiT-1 and PiT-2, are believed to be important in tissue phosphate metabolism and physiological bone formation, but their requirement and molecular roles in bone remain poorly investigated...
November 10, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29130579/a-homozygous-deleterious-cdk10-mutation-in-a-patient-with-agenesis-of-corpus-callosum-retinopathy-and-deafness
#10
Vincent J Guen, Simon Edvardson, Nitay D Fraenkel, Aviva Fattal-Valevski, Chaim Jalas, Irene Anteby, Avraham Shaag, Talia Dor, David Gillis, Eitan Kerem, Jacqueline A Lees, Pierre Colas, Orly Elpeleg
The primary cilium is a key organelle in numerous physiological and developmental processes. Genetic defects in the formation of this non-motile structure, in its maintenance and function, underlie a wide array of ciliopathies in human, including craniofacial, brain and heart malformations, and retinal and hearing defects. We used exome sequencing to study the molecular basis of disease in an 11-year-old female patient who suffered from growth retardation, global developmental delay with absent speech acquisition, agenesis of corpus callosum and paucity of white matter, sensorineural deafness, retinitis pigmentosa, vertebral anomalies, patent ductus arteriosus, and facial dysmorphism reminiscent of STAR syndrome, a suspected ciliopathy...
November 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29127377/bayesian-networks-analysis-of-malocclusion-data
#11
Marco Scutari, Pietro Auconi, Guido Caldarelli, Lorenzo Franchi
In this paper we use Bayesian networks to determine and visualise the interactions among various Class III malocclusion maxillofacial features during growth and treatment. We start from a sample of 143 patients characterised through a series of a maximum of 21 different craniofacial features. We estimate a network model from these data and we test its consistency by verifying some commonly accepted hypotheses on the evolution of these disharmonies by means of Bayesian statistics. We show that untreated subjects develop different Class III craniofacial growth patterns as compared to patients submitted to orthodontic treatment with rapid maxillary expansion and facemask therapy...
November 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29114430/clinical-and-radiographic-features-of-parry-romberg-syndrome
#12
Mithula Nair, Vidya Ajila, Shruthi Hegde, G Subhas Babu, Rumela Ghosh
Parry-Romberg syndrome or progressive hemifacial atrophy is a craniofacial disorder characterized by slow and progressive atrophy, generally unilateral, of facial tissues including muscles, bones and skin. The coup de sabre is a clear line of demarcation seen between the normal and abnormal structures. The severity of the facial deformity is dependent on the age of onset of the disease. Cosmetic management is the only available treatment and has to be delayed until facial growth is completed. The present case report deals with a 43-year-old woman with progressive hemifacial atrophy which started from the age of 10 months...
2017: J Istanb Univ Fac Dent
https://www.readbyqxmd.com/read/29111131/association-between-condylar-position-and-vertical-skeletal-craniofacial-morphology-a-cone-beam-computed-tomography-study
#13
Maryam Paknahad, Shoaleh Shahidi
OBJECTIVE: Condylar position may play an important role in the establishment of different craniofacial morphologies. The aim of the present study was to determine the possible association between condylar position and vertical skeletal craniofacial morphology in subjects with normal sagittal skeletal pattern using CBCT. METHOD AND MATERIAL: The CBCT images of 45 patients with Class I sagittal skeletal pattern were classified into three balanced groups on the basis of SN-MP angle...
October 27, 2017: International Orthodontics
https://www.readbyqxmd.com/read/29103943/from-oral-facial-dysfunction-to-dysmorphism-and-the-onset-of-pediatric-osa
#14
REVIEW
Christian Guilleminault, Yu-Shu Huang
The upper airway is a collapsible tube, and its collapsibility increases during sleep. Extrinsic factors such as atypical craniofacial features may increase the risks of airway collapse. We review early development of oral-facial structures and the anatomical variants that may be present at birth and can impact nasal breathing. After birth, there is a continuous interaction between orofacial functions and growth of anatomic features. We review the dysfunctions identified to date that may impact orofacial development leading to sleep-disordered-breathing through changes in the orofacial growth...
July 6, 2017: Sleep Medicine Reviews
https://www.readbyqxmd.com/read/29090255/anesthetic-considerations-for-a-pediatric-patient-with-wolf-hirschhorn-syndrome-a-case-report
#15
Masanori Tsukamoto, Hitoshi Yamanaka, Takeshi Yokoyama
Wolf-Hirschhorn syndrome is a rare hereditary disease that results from a 4p chromosome deletion. Patients with this syndrome are characterized by craniofacial dysgenesis, seizures, growth delay, intellectual disability, and congenital heart disease. Although several cases have been reported, very little information is available on anesthetic management for patients with Wolf-Hirschhorn syndrome. We encountered a case requiring anesthetic management for a 2-year-old girl with Wolf-Hirschhorn syndrome. The selection of an appropriately sized tracheal tube and maintaining intraoperatively stable hemodynamics might be critical problems for anesthetic management...
September 2017: J Dent Anesth Pain Med
https://www.readbyqxmd.com/read/29080079/obeservations-on-association-between-third-molar-agenesis-and-craniofacial-morphology
#16
Yi Huang, Yinqiu Yan, Jing Cao, Bingjie Xie, Xueling Xiao, Mengqi Luo, Ding Bai, Xianglong Han
OBJECTIVE: This study was designed to examine the relationship between third molar agenesis and skeletal morphology in the Chinese population. MATERIALS AND METHODS: A total of 1043 patients' records were analyzed with panoramic radiographs and cephalograms. Congenitally missing third molars were assessed with respect to gender, jaw, and side, and assessed in various types of facial morphology. Linear, angular, and proportional cephalometric measurements were analyzed and compared among the samples...
November 2017: Journal of Orofacial Orthopedics, Fortschritte der Kieferorthopädie
https://www.readbyqxmd.com/read/29073101/utx-guided-neural-crest-function-underlies-craniofacial-features-of-kabuki-syndrome
#17
Karl B Shpargel, Joshua Starmer, Chaochen Wang, Kai Ge, Terry Magnuson
Kabuki syndrome, a congenital craniofacial disorder, manifests from mutations in an X-linked histone H3 lysine 27 demethylase (UTX/KDM6A) or a H3 lysine 4 methylase (KMT2D). However, the cellular and molecular etiology of histone-modifying enzymes in craniofacial disorders is unknown. We now establish Kabuki syndrome as a neurocristopathy, whereby the majority of clinical features are modeled in mice carrying neural crest (NC) deletion of UTX, including craniofacial dysmorphism, cardiac defects, and postnatal growth retardation...
October 24, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29071711/a-quantitative-approach-for-analysing-bone-modelling-patterns-from-craniofacial-surfaces-in-hominins
#18
Natalia Brachetta-Aporta, Paula N Gonzalez, Valeria Bernal
Bone size and shape arise throughout ontogeny as a result of the coordinated activity of osteoblasts and osteoclasts, responsible for bone deposition and resorption, and growth displacements. The modelling processes leave specific microstructural features on the bone surface, which can be used to infer the mechanisms shaping craniofacial traits in extinct and extant species. However, the analysis of bone surfaces from fossils and archaeological samples faces some difficulties related to the bone loss caused by taphonomic factors, and the lack of formal methods for estimating missing information and comparing the patterns of bone modelling among several specimens and samples...
October 25, 2017: Journal of Anatomy
https://www.readbyqxmd.com/read/29069552/-i-xenopus-i-embryos-to-study-fetal-alcohol-syndrome-a-model-for-environmental-teratogenesis
#19
Abraham Fainsod, Hadas Kot-Leibovich
Vertebrate model systems are central to characterize the outcomes of ethanol exposure and the etiology of Fetal Alcohol Spectrum Disorder (FASD), taking advantage of their genetic and morphological closeness and similarity to humans. We discuss the contribution of amphibian embryos to FASD research, focusing on <i>Xenopus</i> embryos. The <i>Xenopus</i> experimental system is characterized by external development and accessibility throughout embryogenesis, large clutch sizes, gene and protein activity manipulation, transgenesis and genome editing, convenient chemical treatment, explants and conjugates and many other experimental approaches...
October 25, 2017: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/29068938/pediatric-obstructive-sleep-apnea-consensus-controversy-and-craniofacial-considerations
#20
REVIEW
Ravi K Garg, Ahmed M Afifi, Catharine B Garland, Ruston Sanchez, Delora L Mount
Pediatric obstructive sleep apnea, characterized by partial or complete obstruction of the upper airway during sleep, is associated with multiple adverse neurodevelopmental and cardiometabolic consequences. It is common in healthy children and occurs with a higher incidence among infants and children with craniofacial anomalies. Although soft-tissue hypertrophy is the most common cause, interplay between soft tissue and bone structure in children with craniofacial differences may also contribute to upper airway obstruction...
November 2017: Plastic and Reconstructive Surgery
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