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Craniofacial growth

Harold S Matthews, Anthony J Penington, Rita Hardiman, Yi Fan, John G Clement, Nicola M Kilpatrick, Peter D Claes
Many disorders present with characteristic abnormalities of the craniofacial complex. Precise descriptions of how and when these abnormalities emerge and change during childhood and adolescence can inform our understanding of their underlying pathology and facilitate diagnosis from craniofacial shape. In this paper we develop a framework for analysing how anatomical differences between populations emerge and change over time, and for binary group classification that adapts to the age of each participant. As a proxy for a disease-control comparison we use a database of 3D photographs of normally developing boys and girls to examine emerging sex-differences...
March 19, 2018: Scientific Reports
Chanyuan Jiang, Yilue Zheng, Ningbei Yin, Tao Song
The aim of this study was to investigate the anatomical features of the maxillae and vomer in patients with bilateral cleft lip and palate (BCLP). Craniofacial measurements of 24 adult BCLP patients (GB) and 32 normal adult controls (GN) were carried out. We measured the width and length of the maxillae, their relative positions with respect to the coronal plane passing through the basion, and the volume, length, cross-sectional area, and mean width of the vomer. Between-group differences were assessed using independent-sample t tests...
March 16, 2018: Journal of Craniofacial Surgery
Po-Hui Lee, Tu-Lai Yew, Yu-Lin Lai, Shyh-Yuan Lee, Hen-Li Chen
BACKGROUND: Gene-activated matrix (GAM) induces sustained local production of growth factors to promote tissue regeneration. GAM contains a plasmid DNA (pDNA) encoding target proteins that is physically entrapped within a biodegradable matrix carrier. GAM with a pDNA encoding the first 34 amino acids of parathyroid hormone (PTH 1-34) and a collagen matrix enhances bone regeneration in long bone defects. Demineralized freeze-dried bone allograft (DFDBA) is a widely used osteoinductive bone graft...
March 15, 2018: Journal of the Chinese Medical Association: JCMA
Long Chen, Yifeng Jiang, Zhen Du
Although previous studies have demonstrated that dental pulp stem cells (DPSCs) from mature and immature teeth exhibit potential for multi-directional differentiation, the molecular and biological difference between the DPSCs from mature and immature permanent teeth has not been fully investigated. In the present study, 500 differentially expressed genes from dental pulp cells (DPCs) in mature and immature permanent teeth were obtained from the Gene Expression Omnibus online database. Based on bioinformatics analysis using the Database for Annotation, Visualization and Integrated Discovery, these genes were divided into a number of subgroups associated with immunity, inflammation and cell signaling...
April 2018: Experimental and Therapeutic Medicine
Huihui Sun, Naijun Wan, Xinli Wang, Liang Chang, Dazhi Cheng
18p deletion syndrome is a rare chromosomal disease caused by deletion of the short arm of chromosome 18. By using cytogenetic and SNP array analysis, we identified a girl with 18p deletion syndrome exhibiting craniofacial anomalies, intellectual disability, and short stature. G-banding analysis of metaphase cells revealed an abnormal karyotype 46,XX,del(18)(p10). Further, SNP array detected a 15.3-Mb deletion at 18p11.21p11.32 (chr18:12842-15375878) including 61 OMIM genes. Genotype-phenotype correlation analysis showed that clinical manifestations of the patient were correlated with LAMA1, TWSG1, and GNAL deletions...
March 16, 2018: Cytogenetic and Genome Research
F G Exposto, M Masuda, E E Castrillon, P Svensson
Objective To assess if repeated intramuscular injections of nerve growth factor into the temporalis and masseter muscles increase mechanical sensitivity and entropy scores. Furthermore, to investigate if increased mechanical sensitivity would lead to increased prevalence of referred pain in the studied individuals. Finally, if increased muscle sensitization would lead to an increase in number of headache days during the experimental period. Methods The present double-blind, randomized placebo-controlled study recruited 16 healthy participants who were injected with nerve growth-factor, on 2 days, into the masseter and temporalis muscles and isotonic saline on the contralateral side...
January 1, 2018: Cephalalgia: An International Journal of Headache
Rosalinda Calandrelli, Fabio Pilato, Luca Massimi, Marco Panfili, Gabriella D'Apolito, Simona Gaudino, Cesare Colosimo
PURPOSE: Craniosynostostic syndromes are due to multisuture synostoses and affect the entire craniofacial skeleton. This study analyzed the facial complex and airways to quantify the relationship between insufficient facial growth, airways obstruction, and the sutural pattern of the splanchnocranium and cranial fossae. METHODS: Preoperative high-resolution CT images in 19 infants with syndromic craniosynostosis were quantitatively analyzed. Because all children showed involvement of minor sutures/synchondroses coursing in the posterior cranial fossa, they were divided into three groups according to the synostotic involvement of "minor" sutures/synchondroses coursing in anterior (ACF) and middle (MCF) cranial fossae: group 1 (ACF), group 2 (MCF), and group 3 (ACF-MCF)...
March 8, 2018: Neuroradiology
Rodrigo Fariña, Loreto Canto, Renato Gunckel, Juan Pablo Alister, Francisca Uribe
: Temporomandibular joint ankylosis, according to age of onset, causes severe functional and morphological disorders, as well as stunted craniofacial growth and development.The primary goal of treatment is to resolve the functional and morphological disorders. METHOD: Pre- and posttreatment clinical and cephalometric registries were conducted in 15 patients with temporomandibular joint ankylosis over a 10-year period (2002-2012). All the patients underwent complete removal of the ankylotic block, gap arthroplasty, and ipsilateral coronoidectomy...
March 2018: Journal of Craniofacial Surgery
Stephen L Greene, Chung How Kau, Somsak Sittitavornwong, Kathlyn Powell, Noel K Childers, Mary MacDougall, Ejvis Lamani
Cleidocranial dysplasia (CCD, MIM 119600) is a rare autosomal dominant disorder affecting bone, cartilage, craniofacial growth, and tooth formation leading to supernumerary teeth. Few reports delineate the genotype-phenotype correlations related to the variations in craniofacial morphology and patterning of the dentition and the complexity of treating patient's malocclusion. Successful management of the craniofacial deformities in patients with CCD requires a multidisciplinary team of healthcare specialists...
March 1, 2018: Journal of Craniofacial Surgery
J Marulanda, M Murshed
Craniofacial development is a delicate process that involves complex interactions among cells of multiple developmental origins, their migration, proliferation, and differentiation. Tissue morphogenesis of the craniofacial skeleton depends on genetic and environmental factors, and on specific signaling pathways, which are still not well understood. Developmental defects of the midface caused by the absence, delays, or premature fusion of nasal and maxillary prominences vary in severity; leading to clefts, hypoplasias, and midline expansion...
March 2018: Oral Diseases
Jeong-Hyun Kang, Joohon Sung, Yun-Mi Song, Young-Ho Kim
BACKGROUND: Inherited traits of obstructive sleep apnea (OSA) may have link to the heritability of the airway anatomy. OBJECTIVES: The aim of present study was to investigate heritability of the airway anatomy by comparing skeletal and soft tissue features of Korean monozygotic (MZ) and dizygotic twins (DZ). METHODS: In total, 72 participants (mean age, 41.5 ± 5.9 years; 40 males, 32 females) including 48 MZ (24 pairs) and 24 DZ (12 pairs) with same sex were participated...
February 23, 2018: Journal of Oral Rehabilitation
Michelle Kornbluth, Richard E Campbell, John Daskalogiannakis, Elizabeth J Ross, Patricia H Glick, Kathleen A Russell, Jean-Charles Doucet, Ronald R Hathaway, Ross E Long, Thomas J Sitzman
OBJECTIVE: To compare dental arch relationship, craniofacial form, and nasolabial aesthetic outcomes among cleft centers using distinct methods of presurgical infant orthopedics (PSIO). DESIGN: Retrospective cohort study. SETTING: Four cleft centers in North America. PATIENTS: One hundred ninety-one children with repaired complete unilateral cleft lip and palate (CUCLP). MAIN OUTCOME MEASURES: Dental arch relationship was assessed using the GOSLON Yardstick...
January 1, 2018: Cleft Palate-craniofacial Journal
Sultan Al-Shaqsi, Elizabeth Zellner, Jessica Ching, Chirstopher Forrest, John Phillips
BACKGROUND: Children with craniosynostosis have abnormal head shapes. Parents frequently ask whether the abnormal head shape will get worse with time. However, there is no information in the literature to indicate whether the deformity gets worse. OBJECTIVE: To assess the progression of cranial morphology in children with unoperated craniosynostosis. METHODS: A retrospective review of all children with unoperated sagittal craniosynostosis who were referred to the Craniofacial Clinic at the Hospital for Sick Children (SickKids) was conducted...
February 14, 2018: Journal of Craniofacial Surgery
Konstantinos Karamesinis, Efthimia K Basdra
Jaw discrepancies and malrelations affect a large proportion of the general population and their treatment is of utmost significance for individuals' health and quality of life. The aim of their therapy is the modification of aberrant jaw development mainly by targeting the growth potential of the mandibular condyle through its cartilage, and the architectural shape of alveolar bone through a suture type of structure, the periodontal ligament. This targeted treatment is achieved via external mechanical force application by using a wide variety of intraoral and extraoral appliances...
February 14, 2018: Biochimica et Biophysica Acta
Alexander P Marston, Glenn Merritt, Jonathan M Morris, Shelagh A Cofer
OBJECTIVES: The suprazygomatic maxillary nerve block is associated with improved post-operative pain management after select craniofacial surgical procedures. This study's objective is to better define the impact of pediatric facial skeletal growth on techniques for accessing the pterygopalatine fossa (PPF). METHODS: Pediatric patients with prior thin-slice maxillofacial computed tomography imaging were identified in an institutional radiology database. Aquarius image-processing software (Ver...
February 2018: International Journal of Pediatric Otorhinolaryngology
Valentino Valentini, Luigi Califano, Andrea Cassoni, Della Monaca Marco, Ingrid Raponi, Paolo Priore, Maria Teresa Fadda, Giovanni Dell'Aversana Orabona, Valentina Terenzi
Maxillo-mandibular reconstruction in pediatric patients involves particular functional and cosmetic implications. Attention is required for the craniofacial growth over time, involvement of the permanent dentition, facial symmetry, and donor site morbidity. Our aim is to identify the best reconstructive options for maxilla-mandibular defects in children (<18 years) based on our experience with 25 pediatric patients. We believe that reconstruction has to be performed at the same time as resection in pediatric patients...
February 12, 2018: Journal of Craniofacial Surgery
Nuriye Dinckan, Renqian Du, Zeynep C Akdemir, Yavuz Bayram, Shalini N Jhangiani, Harsha Doddapaneni, Jianhong Hu, Donna M Muzny, Yeliz Guven, Oya Aktoren, Hulya Kayserili, Eric Boerwinkle, Richard A Gibbs, Jennifer E Posey, James R Lupski, Zehra O Uyguner, Ariadne Letra
Tooth development is regulated by multiple genetic pathways, which ultimately drive the complex interactions between the oral epithelium and mesenchyme. Disruptions at any time point during this process may lead to failure of tooth development, also known as tooth agenesis (TA). TA is a common craniofacial abnormality in humans and represents the failure to develop one or more permanent teeth. Many genes and potentially subtle variants in these genes contribute to the TA phenotype. We report the clinical and genetic impact of a rare homozygous ANTXR1 variant (c...
February 13, 2018: American Journal of Medical Genetics. Part A
R Zhang, X H He, H Y Lin, X H Yang
Objective: To investigate the clinical manifestations and genetic features of a child with Bainbridge-Ropers syndrome caused by ASXL3 gene variation and review the literature. Methods: Clinical data and genetic features were collected and analyzed from a child with Bainbridge-Ropers syndrome who was diagnosed in Bao'an Maternity and Child Health Hospital in November 2016. "ASXL3" and "Bainbridge-Ropers" were used as key words to search at China National Knowledge Infrastructure, Wangfang Data Knowledge Service Platform, PubMed and Human Gene Mutation Database up to June 2017...
February 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
Yurie Yamada, Atsushi Ohazama, Takeyasu Maeda, Kenji Seo
Activation of Shh signaling is known to be observed following injury of the peripheral nerves such as the sciatic nerve. However, the precise role of Shh signaling during peripheral nerve regeneration is not fully understood. The inferior alveolar nerve (IAN) is most commonly injured during oral surgery. Unlike the sciatic nerve, the IAN is isolated from other craniofacial tissues, as it resides in a long bony canal within the mandible. The IAN is thus an excellent experimental model for investigating peripheral nerve regeneration...
February 8, 2018: Neuroscience Letters
Tom Philipp, Jefferson Terry, Michael Feichtinger, Sandra Grillenberger, Beda Hartmann, Stefan Jirecek
OBJECTIVE: The morphologic features of embryos with full trisomy 15 are described. METHOD: A total of 1195 pregnancy losses were examined embryoscopically and cytogenetically. RESULTS: Of 1173 successfully karyotyped specimens, full trisomy 15 was diagnosed cytogenetically in 59 cases (5%). All 59 trisomy 15 embryos were diagnosed cytogenetically in the group of 962 embryonic miscarriages (6%). Trisomy 15 was not registered in 171 anembryonic or yolk sac miscarriages, and no case of full trisomy 15 was observed in 62 fetal miscarriages...
February 8, 2018: Prenatal Diagnosis
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