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Craniofacial growth

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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/28186593/-prenatal-diagnosis-of-a-case-with-46-xx-del-4-dup-21
#6
Lin Zhang, Meihong Ren, Guining Song, Xuexia Liu, Jing Zhang, Xiaohong Zhang
OBJECTIVE: To investigate the genetic cause and prognosis of a fetus with a rare karyotype. METHODS: Fluorescence in situ hybridization (FISH) was used for verifying a structural chromosomal abnormality detected by conventional karyotyping analysis. Whole genome DNA microarray was used to analyze copy number variations carried by the fetus. RESULTS: The fetus was found to have a 46,XX,dup(21)(?q21q22) karyotype, which was verified by FISH analysis as repetition of chromosome 21 region, namely nuc ish 21q22×3...
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
#7
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/28179700/calvarial-remodelling-surgery-neurosurgical-experience-of-multidisciplinary-craniofacial-reconstruction
#8
Abdul Ghaffar, Zahid Hussain, Shahzad Ahmed Qasmi, Shahid Hameed Chaudhry
OBJECTIVE: To evaluate the safety, cosmetic and functional outcome of craniofacial reconstruction surgery for primary craniosynostosis and clefts. METHODS: This quasi-experimental study was conducted at the Combined Military Hospital, Rawalpindi, Pakistan, from June 2011 to December 2014, and comprised paediatric patients undergoing calvarial reconstructive procedures. Fronto-orbital advancement and reconstruction, total calvarial remodelling and box flap reconstruction techniques were used...
December 2016: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28174062/cephalometric-evaluation-after-two-stage-palatoplasty-combined-with-a-hotz-plate-a-comparative-study-between-the-modified-furlow-and-widmaier-perko-methods
#9
K Madachi, R Takagi, T Asahito, Y Kodama, R Ominato, A Iida, K Ono, I Saito
The effects on craniofacial growth of two different soft palate repair techniques in two-stage palatoplasty were investigated. This was a retrospective, cross-sectional cohort study of 68 children with non-syndromic, complete unilateral cleft lip and palate. Thirty-four patients were treated with the modified Furlow method (F-group) and the remaining 34 with the Widmaier-Perko method (P-group). Craniofacial growth was assessed by analyzing 12 angular and 12 linear measurements on lateral cephalograms. Composite facial diagrams from the two groups were compared with those of a control non-cleft group...
February 4, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28161602/characterizing-mandibular-growth-using-three-dimensional-imaging-techniques-and-anatomic-landmarks
#10
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
#11
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/28156213/structural-brain-differences-in-school-age-children-with-and-without-single-suture-craniosynostosis
#12
Kristina Aldridge, Brent R Collett, Erin R Wallace, Craig Birgfeld, Jordan R Austin, Regina Yeh, Madison Feil, Kathleen A Kapp-Simon, Elizabeth H Aylward, Michael L Cunningham, Matthew L Speltz
OBJECTIVE Single-suture craniosynostosis (SSC), the premature fusion of a cranial suture, is characterized by dysmorphology of the craniofacial skeleton. Evidence to suggest that children with SSC are at an elevated risk of mild to moderate developmental delays and neurocognitive deficits is mounting, but the associations among premature suture fusion, neuroanatomy, and neurocognition are unexplained. The goals of this study were to determine 1) whether differences in the brain are present in young children with the 2 most common forms of SSC (sagittal and metopic) several years following surgical correction, and 2) whether the pattern of differences varies by affected suture (sagittal or metopic)...
February 3, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28138909/colloidal-gels-with-extracellular-matrix-particles-and-growth-factors-for-bone-regeneration-in-critical-size-rat-calvarial-defects
#13
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
#14
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/28133786/haplotype-based-gene-gene-interaction-of-bone-morphogenetic-protein-4-and-interferon-regulatory-factor-6-in-the-etiology-of-non-syndromic-cleft-lip-with-or-without-cleft-palate-in-a-chilean-population
#15
Rafael Blanco, Alicia Colombo, Rosa Pardo, José Suazo
Non-syndromic cleft lip with or without cleft palate (NSCL/P) is the most common craniofacial birth defect in humans, the etiology of which can be dependent on the interactions of multiple genes. We previously reported haplotype associations for polymorphic variants of interferon regulatory factor 6 (IRF6), msh homeobox 1 (MSX1), bone morphogenetic protein 4 (BMP4), and transforming growth factor beta 3 (TGFB3) in Chile. Here, we analyzed the haplotype-based gene-gene interaction for markers of these genes and NSCL/P risk in the Chilean population...
January 30, 2017: European Journal of Oral Sciences
https://www.readbyqxmd.com/read/28114243/facial-growth-patterns-and-insertion-sites-of-miniscrew-implants
#16
Fariborz Amini, Minoo Alipanahi, Vahid Rakhshan, Shahriar Shahab, Anooshe Niktash
INTRODUCTION: We aimed to evaluate the associations between the craniofacial growth pattern with interradicular distances (IRDs), cortical widths (CWs), and jaw heights (JHs). Also, we mapped safe zones for miniscrew implantation. METHODS: Cone-beam computerized tomography data pertaining to 60 Class-I patients were divided into 3 growth groups: normal, horizontal, and vertical. IRDs and CWs were measured for bimaxillary canines to second molars, on buccal and lingual sides, at 3 transverse planes (1, 3, and 5 mm apically to the alveolar crest)...
February 2017: Implant Dentistry
https://www.readbyqxmd.com/read/28114214/craniofacial-deviations-in-the-children-with-nasal-obstruction
#17
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/28090512/surgical-applications-of-three-dimensional-printing-a-review-of-the-current-literature-how-to-get-started
#18
REVIEW
Don Hoang, David Perrault, Milan Stevanovic, Alidad Ghiassi
Three dimensional (3D) printing involves a number of additive manufacturing techniques that are used to build structures from the ground up. This technology has been adapted to a wide range of surgical applications at an impressive rate. It has been used to print patient-specific anatomic models, implants, prosthetics, external fixators, splints, surgical instrumentation, and surgical cutting guides. The profound utility of this technology in surgery explains the exponential growth. It is important to learn how 3D printing has been used in surgery and how to potentially apply this technology...
December 2016: Annals of Translational Medicine
https://www.readbyqxmd.com/read/28064196/understanding-interactions-among-cephalometrics-variables-during-growth-in-untreated-class-iii-subjects
#19
Pietro Auconi, Marco Scazzocchio, Guido Caldarelli, Michele Nieri, James A McNamara, Lorenzo Franchi
OBJECTIVE: The aim of the present study was to apply a computational method commonly used in data mining discipline, classification trees (CTs), to evaluate the growth features in untreated Class III subjects. MATERIALS AND METHODS: CT was applied to data from 91 untreated Class III subjects (48 females and 43 males) and compared with the results of discriminant analysis (DA). For all subjects, lateral cephalograms were available at T1 (mean age 10.4 ± 2.0 years) and at T2 (mean age 15...
January 7, 2017: European Journal of Orthodontics
https://www.readbyqxmd.com/read/28050513/an-atypical-presentation-of-multiple-central-osteomas-mimicking-craniofacial-fibrous-dysplasia-a-pictorial-essay
#20
Rashmi Kewal Agarwal, Amit A Mhapuskar, Manjula Hebbale, Meenal Tepan, Ayushee
Osteoma is benign neoplasm with slow growth characterized by deposition of compact lamellar cortical or cancellous bone creating a tumour mass. It is still unclear whether osteomas are benign neoplasms or hamartomas. They have typical clinical presentations and are easily diagnosed with the help of radiographs. We present a rare case of non-syndromic multiple osteomas in the craniofacial region which are typically restricted to the midline and presents radiographically as craniofacial fibrous dysplasia causing a diagnostic dilemma...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
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