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craniofacial growth and development

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https://www.readbyqxmd.com/read/28217167/russell-silver-syndrome-associated-with-low-conus-medullaris
#1
Larisa Gabor, Huseyin Canaz, Gokhan Canaz, Nursu Kara, Ibrahim Alatas, Hakan Bozkus
Russell-Silver syndrome is a rare heterogeneous disorder mainly characterized by intrauterine and postnatal growth retardation, craniofacial disproportion, clinodactyly, variation in urogenital development, and skeletal asymmetry. It is rare to come across tethered cord-associated Russell-Silver syndrome. We report a rare case of Russell-Silver syndrome associated with low conus medullaris in a 2-year-old patient with demonstrative phenotype. Magnetic resonance imaging indicated a low conus medullaris at the inferior border of the L3 vertebral body...
October 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28215996/morphological-and-behavioral-responses-of-zebrafish-after-24h-of-ketamine-embryonic-exposure
#2
Luís M Félix, Cindy Serafim, Maria J Martins, Ana M Valentim, Luís M Antunes, Manuela Matos, Ana M Coimbra
Ketamine, one anesthetic used as an illicit drug, has been detected both in freshwater and marine ecosystems. However, knowledge of its impact on aquatic life is still limited. This study aimed to test its effects in zebrafish embryos by analyzing its time- and dose-dependent developmental toxicity and long-term behavioral changes. The 24h-LC50 was calculated from percent survival using probit analysis. Based on the 24h-LC50 (94.4mgL(-1)), embryos (2hour post-fertilization - hpf) were divided into four groups, including control, and exposed for 24h to ketamine concentrations of 50, 70 or 90mgL(-1)...
February 16, 2017: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/28207469/sequence-of-surgical-reconstruction-in-a-child-with-cleft-lip-and-palate-associated-with-congenital-facial-teratomas
#3
Oswaldo J Gómez Díaz, Mario D Cruz Sánchez
We describe a case of left homolateral complete cleft lip/palate associated with a congenital left maxillary teratoma and left orbital teratoma. The patient required step-by-step reconstruction that first included resection of the 2 teratomas in consideration of cleft lip repair, cleft palate repair, and correction of the left periorbital anomalies, which were performed later. After performing all the necessary procedures, complete resection of the tumors and correction of the anomalies associated with the lip, palate, and left orbit were achieved...
February 15, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28191761/angiogenic-potential-of-human-bone-marrow-derived-mesenchymal-stem-cells-in-chondrocyte-brick-enriched-constructs-promoted-stable-regeneration-of-craniofacial-cartilage
#4
Zhiye Li, Ruikai Ba, Zhifa Wang, Jianhua Wei, Yimin Zhao, Wei Wu
Craniofacial deformities caused by congenital defects or trauma remain challenges for clinicians, whereas current surgical interventions present limited therapeutic outcomes. Injection of bone marrow-derived mesenchymal stem cells (BMSCs) into the defect is highly desirable because such a procedure is microinvasive and grafts are more flexible to fill the lesions. However, preventing hypertrophic transition and morphological contraction remain significant challenges. We have developed an "all host derived" cell transplantation system composed of chondrocyte brick (CB)-enriched platelet-rich plasma (P) gel and BMSCs (B)...
February 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/28186598/-a-boy-with-meier-gorlin-syndrome-carrying-a-novel-orc6-mutation-and-uniparental-disomy-of-chromosome-16
#5
Juan Li, Yu Ding, Guoying Chang, Qing Cheng, Xin Li, Jian Wang, Xiumin Wang, Yiping Shen
OBJECTIVE: To identify the genetic cause for a 11-year-old Chinese boy with Meier-Gorlin syndrome (MGS). METHODS: Chromosomal microarray analysis (CMA) was used to detect potential variations, while whole exome sequencing (WES) was used to identify sequence variants. Sanger sequencing was used to confirm the suspected variants. RESULTS: The boy has featured short stature, microtia, small patella, slender body build, craniofacial anomalies, and small testes with normal gonadotropin...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28181399/mild-achondroplasia-hypochondroplasia-with-acanthosis-nigricans-normal-development-and-a-p-ser348cys-fgfr3-mutation
#6
Natario L Couser, Chetna K Pande, Christie M Turcott, Elaine B Spector, Arthur S Aylsworth, Cynthia M Powell
Pathogenic allelic variants in the fibroblast growth factor receptor 3 (FGFR3) gene have been associated with a number of phenotypes including achondroplasia, hypochondroplasia, thanatophoric dysplasia, Crouzon syndrome with acanthosis nigricans (Crouzonodermoskeletal syndrome), and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans). Crouzon syndrome with acanthosis nigricans is caused by the pathogenic variant c.1172C>A (p.Ala391Glu) in the FGFR3 gene. The p.Lys650Thr pathogenic variant in FGFR3 has been linked to acanthosis nigricans without significant craniofacial or skeletal abnormalities...
February 9, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28161602/characterizing-mandibular-growth-using-three-dimensional-imaging-techniques-and-anatomic-landmarks
#7
Michael P Kelly, Houri K Vorperian, Yuan Wang, Katelyn K Tillman, Helen M Werner, Moo K Chung, Lindell R Gentry
OBJECTIVE: To provide quantitative data on the multi-planar growth of the mandible, this study derived accurate linear and angular mandible measurements using landmarks on three dimensional (3D) mandible models. This novel method was used to quantify 3D mandibular growth and characterize the emergence of sexual dimorphism. DESIGN: Cross-sectional and longitudinal imaging data were obtained from a retrospective computed tomography (CT) database for 51 typically developing individuals between the ages of one and nineteen years...
January 23, 2017: Archives of Oral Biology
https://www.readbyqxmd.com/read/28158974/a-compendium-of-developmental-gene-expression-in-lake-malawi-cichlid-fishes
#8
R F Bloomquist, T E Fowler, J B Sylvester, R J Miro, J T Streelman
BACKGROUND: Lake Malawi cichlids represent one of a growing number of vertebrate models used to uncover the genetic and developmental basis of trait diversity. Rapid evolutionary radiation has resulted in species that share similar genomes but differ markedly in phenotypes including brains and behavior, nuptial coloration and the craniofacial skeleton. Research has begun to identify the genes, as well as the molecular and developmental pathways that underlie trait divergence. RESULTS: We assemble a compendium of gene expression for Lake Malawi cichlids, across pharyngula (the phylotypic stage) and larval stages of development, encompassing hundreds of gene transcripts...
February 3, 2017: BMC Developmental Biology
https://www.readbyqxmd.com/read/28138909/colloidal-gels-with-extracellular-matrix-particles-and-growth-factors-for-bone-regeneration-in-critical-size-rat-calvarial-defects
#9
Jakob M Townsend, S Connor Dennis, Jonathan Whitlow, Yi Feng, Jinxi Wang, Brian Andrews, Randolph J Nudo, Michael S Detamore, Cory J Berkland
Colloidal gels encapsulating natural materials and exhibiting paste-like properties for placement are promising for filling complex geometries in craniofacial bone regeneration applications. Colloidal materials have demonstrated modest clinical outcomes as bone substitutes in orthopedic applications, but limited success in craniofacial applications. As such, development of a novel colloidal gel will fill a void in commercially available products for use in craniofacial reconstruction. One likely application for this technology is cranial reconstruction...
January 30, 2017: AAPS Journal
https://www.readbyqxmd.com/read/28134641/craniofacial-manifestations-in-severe-nemaline-myopathy
#10
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...
January 27, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28114214/craniofacial-deviations-in-the-children-with-nasal-obstruction
#11
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...
January 20, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28005824/anthropometrically-based-surgical-technique-for-tessier-3-cleft-reconstruction
#12
Aaron L Morgan, Roger Cason, Christian A El Amm
Craniofacial clefts are rare entities, with an incidence reported as 1.43 to 4.85 per 100,000 births. The Tessier number 3 cleft, the most medial of the oblique clefts, can manifest as clefting of the lip between the canine and lateral incisors, colobomas of the nasal ala and lower eyelid, and inferior displacement of the medial canthus-frequently disrupting the lacrimal system with extreme variability in expressivity (Eppley).Literature on cleft lip repair is extensive and has evolved to incorporate anthropometric techniques, based on identifiable landmarks and anthropometric measurements that are compared with contralateral unaffected anatomy or population means and tracked over time to assess impact on growth...
November 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27986804/dwarfism-and-altered-craniofacial-development-in-rabbits-is-caused-by-a-12-1-kb-deletion-at-the-hmga2-locus
#13
Miguel Carneiro, Dou Hu, John Archer, Chungang Feng, Sandra Afonso, Congying Chen, José A Blanco-Aguiar, Hervé Garreau, Samuel Boucher, Paula G Ferreira, Nuno Ferrand, Carl-Johan Rubin, Leif Andersson
The dwarf phenotype characterizes the smallest of rabbit breeds and is governed largely by the effects of a single dwarfing allele with an incompletely dominant effect on growth. Dwarf rabbits typically weigh under 1 kg and have altered craniofacial morphology. The dwarf allele is recessive lethal and dwarf homozygotes die within a few days of birth. The dwarf phenotype is expressed in heterozygous individuals and rabbits from dwarf breeds homozygous for the wild-type allele are normal, although smaller when compared to other breeds...
February 2017: Genetics
https://www.readbyqxmd.com/read/27959899/effects-of-in-utero-thyroxine-exposure-on-murine-cranial-suture-growth
#14
R Nicole Howie, Emily L Durham, Laurel Black, Grace Bennfors, Trish E Parsons, Mohammed E Elsalanty, Jack C Yu, Seth M Weinberg, James J Cray
Large scale surveillance studies, case studies, as well as cohort studies have identified the influence of thyroid hormones on calvarial growth and development. Surveillance data suggests maternal thyroid disorders (hyperthyroidism, hypothyroidism with pharmacological replacement, and Maternal Graves Disease) are linked to as much as a 2.5 fold increased risk for craniosynostosis. Craniosynostosis is the premature fusion of one or more calvarial growth sites (sutures) prior to the completion of brain expansion...
2016: PloS One
https://www.readbyqxmd.com/read/27958599/association-between-oral-habits-mouth-breathing-and-malocclusion
#15
C Grippaudo, E G Paolantonio, G Antonini, R Saulle, G La Torre, R Deli
The ratio of bad habits, mouth breathing and malocclusion is an important issue in view of prevention and early treatment of disorders of the craniofacial growth. While bad habits can interfere with the position of the teeth and normal pattern of skeletal growth, on the other hand obstruction of the upper airway, resulting in mouth breathing, changes the pattern of craniofacial growth causing malocclusion. Our crosssectional study, carried out on 3017 children using the ROMA index, was developed to verify if there was a significant correlation between bad habits/mouth breathing and malocclusion...
October 2016: Acta Otorhinolaryngologica Italica
https://www.readbyqxmd.com/read/27943041/gestational-di-n-butyl-phthalate-exposure-induced-developmental-and-teratogenic-anomalies-in-rats-a-multigenerational-assessment
#16
P Mahaboob Basha, M J Radha
With the limited but ongoing usage of di-n-butyl phthalate (DBP) as plasticizer, the health effects of both phthalate and its alternatives are far from being understood. Multigenerational effects of phthalates were evaluated in rats upon exposure to DBP, aiming to provide some evidences about its potential in causing developmental teratogenicity. Gestational rats were exposed to DBP (500 mg/kg bw/day) and control groups with olive oil. On the 18th day of gestation, fetuses (F1) isolated from a few dams were subjected to prenatal screening, and the other rats were allowed to litter, and later postnatal screening was made...
December 12, 2016: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/27930467/ankylosis-of-the-temporomandibular-joint-and-reconstruction-with-a-costochondral-graft-in-a-patient-with-juvenile-idiopathic-arthritis
#17
Valtuir Barbosa Felix, Dhayanna Rolemberg Gama Cabral, Alana Beatriz Wanderley de Almeida, Elionai Dias Soares, Katharina Jucá de Moraes Fernandes
Juvenile idiopathic arthritis (JIA), the most common inflammatory autoimmune rheumatic disease in children, consists of a heterogeneous group of diseases with 7 distinct subtypes. Involvement of the temporomandibular joint (TMJ) in JIA varies from 17% to 87%, and can alter craniofacial growth due to damage to the condylar growth center. This study was a literature review and clinical report of bilateral ankylosis of the TMJ in a 13-year-old patient with polyarticular JIA. Temporomandibular joint reconstruction with a costochondral graft was carried out...
January 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27924807/genetic-and-molecular-analyses-indicate-independent-effects-of-tgifs-on-nodal-and-gli3-in-neural-tube-patterning
#18
Kenichiro Taniguchi, Anoush E Anderson, Tiffany A Melhuish, Anne L Carlton, Arkadi Manukyan, Ann E Sutherland, David Wotton
Holoprosencephaly (HPE) is a prevalent craniofacial developmental disorder that has both genetic and environmental causes. The gene encoding TG-interacting factor 1 (TGIF1) is among those that are routinely screened in HPE patients. However, the mechanisms by which TGIF1 variants cause HPE are not fully understood. TGIF1 is a transcriptional repressor that limits the output of the Transforming Growth Factor ß (TGFß)/Nodal signaling pathway, and HPE in patients with TGIF1 variants has been suggested to be due to increased Nodal signaling...
February 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27920634/frontonasal-dysplasia-towards-an-understanding-of-molecular-and-developmental-aetiology
#19
REVIEW
Peter G Farlie, Naomi L Baker, Patrick Yap, Tiong Y Tan
The complex anatomy of the skull and face arises from the requirement to support multiple sensory and structural functions. During embryonic development, the diverse component elements of the neuro- and viscerocranium must be generated independently and subsequently united in a manner that sustains and promotes the growth of the brain and sensory organs, while achieving a level of structural integrity necessary for the individual to become a free-living organism. While each of these individual craniofacial components is essential, the cranial and facial midline lies at a structural nexus that unites these disparately derived elements, fusing them into a whole...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27890229/maxillofacial-defects-and-the-use-of-growth-factors
#20
REVIEW
Alan S Herford, Meagan Miller, Fabrizio Signorino
The development and increase in knowledge of the benefits and applications of growth factors in craniofacial reconstruction adds a novel tool in the reconstructive surgeon's armamentarium. The use of growth factors varies according to presentation. Growth factors help to promote healing, angiogenesis, and formation of bone of improved quality and quantity. Growth factors used with stem cells and scaffolds provide a solution or alternative to discomfort created by donor autograft sites. The application and results of these growth factors are displayed in various examples of maxillofacial defects in this article, including reconstruction of a premaxillary cleft and of maxillary augmentation...
February 2017: Oral and Maxillofacial Surgery Clinics of North America
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