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https://www.readbyqxmd.com/read/28813618/whole-exome-sequencing-identifies-novel-variants-for-tooth-agenesis
#1
N Dinckan, R Du, L E Petty, Z Coban-Akdemir, S N Jhangiani, I Paine, E H Baugh, A P Erdem, H Kayserili, H Doddapaneni, J Hu, D M Muzny, E Boerwinkle, R A Gibbs, J R Lupski, Z O Uyguner, J E Below, A Letra
Tooth agenesis is a common craniofacial abnormality in humans and represents failure to develop 1 or more permanent teeth. Tooth agenesis is complex, and variations in about a dozen genes have been reported as contributing to the etiology. Here, we combined whole-exome sequencing, array-based genotyping, and linkage analysis to identify putative pathogenic variants in candidate disease genes for tooth agenesis in 10 multiplex Turkish families. Novel homozygous and heterozygous variants in LRP6, DKK1, LAMA3, and COL17A1 genes, as well as known variants in WNT10A, were identified as likely pathogenic in isolated tooth agenesis...
August 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28813171/anti-edar-agonist-antibody-therapy-resolves-palate-defects-in-pax9-mice
#2
S Jia, J Zhou, Y Wee, M L Mikkola, P Schneider, R N D'Souza
To date, surgical interventions are the only means by which craniofacial anomalies can be corrected so that function, esthetics, and the sense of well-being are restored in affected individuals. Unfortunately, for patients with cleft palate-one of the most common of congenital birth defects-treatment following surgery is prolonged over a lifetime and often involves multidisciplinary regimens. Hence, there is a need to understand the molecular pathways that control palatogenesis and to translate such information for the development of noninvasive therapies that can either prevent or correct cleft palates in humans...
August 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28812673/craniofacial-diversification-in-the-domestic-pigeon-and-the-evolution-of-the-avian-skull
#3
Nathan M Young, Marta Linde-Medina, John W Fondon, Benedikt Hallgrímsson, Ralph S Marcucio
A central question in evolutionary developmental biology is how highly conserved developmental systems can generate the remarkable phenotypic diversity observed among distantly related species. In part, this paradox reflects our limited knowledge about the potential for species to both respond to selection and generate novel variation. Consequently, the developmental links between small-scale microevolutionary variations within populations to larger macroevolutionary patterns among species remain unbridged...
March 13, 2017: Nature ecology & evolution
https://www.readbyqxmd.com/read/28811212/incidence-and-risk-factors-of-delayed-intracranial-hemorrhage-in-emergency-department
#4
Byunghyun Kim, Hyeonjeong Jeong, Joonghee Kim, Tackeun Kim, Kyuseok Kim, Heeyoung Lee, Soyeon Ahn, Yoo Hwan Jo, Jae Hyuk Lee, Ji Eun Hwang
OBJECTIVES: This study was performed to identify the risk factors for delayed intracranial hemorrhage and develop a risk stratification system for disposition of head trauma patients with negative initial brain imaging. METHODS: The data source was National Health Insurance Service-National Sample Cohort of Korea. We analyzed adult patients presenting to the ER from January 2004 to September 2012, who underwent brain imaging and discharged with or without short-term observation no longer than two days...
August 4, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28809041/complex-malformations-involving-the-fetal-body-wall-definition-and-classification-issues
#5
Julia Bijok, Diana Massalska, Anna Kucińska-Chahwan, Anna Posiewka, Alicja Ilnicka, Grzegorz Jakiel, Tomasz Roszkowski
OBJECTIVE: To analyse the sonographic features, cytogenetic results and pregnancy outcomes in complex malformations involving the body wall in a large cohort of fetuses with regard to different definitions proposed in the literature. METHOD: A retrospective study on 96 fetuses with complex malformations comprising ventral wall, craniofacial structures, limbs and umbilical cord that were evaluated between 1997 and 2015. RESULTS: The most common sonographic finding was an extensive ventral wall defect (95...
August 14, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28808036/reducing-posttreatment-relapse-in-cleft-lip-palatal-expansion-using-an-injectable-estrogen-nanodiamond-hydrogel
#6
Christine Hong, Dayoung Song, Dong-Keun Lee, Lawrence Lin, Hsin Chuan Pan, Deborah Lee, Peng Deng, Zhenqing Liu, Danny Hadaya, Hye-Lim Lee, Abdulaziz Mohammad, Xinli Zhang, Min Lee, Cun-Yu Wang, Dean Ho
Patients with cleft lip and/or palate (CLP), who undergo numerous medical interventions from infancy, can suffer from lifelong debilitation caused by underdeveloped maxillae. Conventional treatment approaches use maxillary expansion techniques to develop normal speech, achieve functional occlusion for nutrition intake, and improve esthetics. However, as patients with CLP congenitally lack bone in the cleft site with diminished capacity for bone formation in the expanded palate, more than 80% of the patient population experiences significant postexpansion relapse...
August 14, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28806925/genomic-data-illuminates-demography-genetic-structure-and-selection-of-a-popular-dog-breed
#7
Pamela Wiener, Enrique Sánchez-Molano, Dylan N Clements, John A Woolliams, Marie J Haskell, Sarah C Blott
BACKGROUND: Genomic methods have proved to be important tools in the analysis of genetic diversity across the range of species and can be used to reveal processes underlying both short- and long-term evolutionary change. This study applied genomic methods to investigate population structure and inbreeding in a common UK dog breed, the Labrador Retriever. RESULTS: We found substantial within-breed genetic differentiation, which was associated with the role of the dog (i...
August 14, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28806379/evaluation-of-protraction-face-mask-therapy-on-the-craniofacial-and-upper-airway-morphology-in-unilateral-cleft-lip-and-palate
#8
Defne Keçik
INTRODUCTION: The aim of the authors' study was to evaluate the effects of protraction face-mask therapy on the craniofacial and upper airway morphology in patients with unilateral cleft lip and palate (UCLP). METHODS: Twenty-three growing UCLP patients (mean age: 8.3 + 2.4) were enrolled in the study group. Protraction face-mask in combination with Hyrax appliance was applied for the correction of anterior crossbite and maxillary insufficiency. Twenty-six patients with maxillary retrusion (mean age: 8...
August 10, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28805616/prenatal-diagnosis-and-molecular-cytogenetic-characterization-of-mosaicism-for-a-small-supernumerary-marker-chromosome-derived-from-chromosome-16
#9
Chih-Ping Chen, Tsang-Ming Ko, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Chien-Wen Yang, Chen-Wen Pan, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 16. CASE REPORT: A 28-year-old woman underwent amniocentesis at 17 weeks of gestation because of abnormal maternal serum screening for Down syndrome. Amniocentesis revealed a karyotype of 47,XY,+mar[5]/46,XY[9]. Parental karyotypes were normal. Prenatal ultrasound findings were unremarkable. Array comparative genomic hybridization (aCGH) analysis of cultured amniocytes revealed a de novo 16% gene dosage increase of 16q11...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28805532/etiology-based-dental-and-craniofacial-diagnostics
#10
Martyn Cobourne
No abstract text is available yet for this article.
August 14, 2017: Journal of Orthodontics
https://www.readbyqxmd.com/read/28803737/cone-beam-computed-tomography-based-cephalometric-norms-for-brazilian-adults
#11
R M G Santos, J M De Martino, F Haiter Neto, L A Passeri
This study established cone beam computed tomography (CBCT)-based cephalometric norms for Brazilian adults, including the assessment of sexual dimorphism. An observer performed McNamara's cephalometric analysis twice on 60 CBCT datasets acquired from patients with a normal dental occlusion, divided equally into two groups by sex. Welch's t-test was applied to assess differences between the sexes in hard tissue cephalometric measurements, and Dahlberg's formula was used to calculate measurement error introduced by the observer...
August 10, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28803736/an-aggressive-and-fatal-craniofacial-group-a-streptococcus-infection-resulting-from-a-minimally-displaced-orbital-floor-fracture
#12
R M Uhrich, M Sherban, C Valdez
While sharp, penetrating trauma is often associated with group A Streptococcus (GAS) infections and subsequent necrotizing fasciitis (NF) and streptococcal toxic shock syndrome (STSS), there are scant reports in the oral and maxillofacial surgery literature regarding blunt, non-penetrating trauma in association with these conditions. With a clinical course that initially appears relatively benign following blunt trauma, NF can progress swiftly through the fascial planes and may quickly become life-threatening if the oral and maxillofacial surgeon fails to recognize some of the critical pathognomonic signs...
August 10, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28802362/kallmann-syndrome-in-pediatric-otorhinolaryngology-practice-case-report-and-literature-review
#13
Karolina Dżaman, Karolina Zborowska-Piskadło, Mirosława Pietniczka-Załęska, Ireneusz Kantor
BACKGROUND: Kallmann syndrome (KS) is an isolated form of hypogonadotrophic hypogonadism (HH) in combination with a defect in olfactory function. The diagnosis of KS before maturation is often difficult to make due to the broad spectrum of presentation and genetic heterogeneities. ENT examination including smell test is essential for proper diagnosis of olfactory disturbances and non olfactory abnormalities in craniofacial region which may also be existent in KS. CASE: A 17-year-old girl admitted to ENT Department because of the olfactory sense disturbances since two years...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28802359/transmission-analysis-of-tgfb1-gene-polymorphisms-in-non-syndromic-cleft-lip-with-or-without-cleft-palate
#14
Ginila T Raju, Bhaskar V K S Lakkakula, Jyotsna Murthy, Munirajan Arasambattu Kannan, Solomon F D Paul
OBJECTIVES: Transforming growth factor beta1 (TGF-β1) plays a significant role in craniofacial development. Previous linkage studies reported that the TGF-β1-locus at 19q13.1 harbour predisposing genes for non-syndromic oral clefts. In the present study case parents triads were evaluated to find the transmission effects of genetic variants in TGF- β1 towards non-syndromic cleft lip or palate (NSCL/P). METHODS: Using allelic discrimination method148 families (case-parent triads) were assessed for single nucleotide polymorphisms (SNPs) in TGF-β1 gene...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28796110/surgery-navigation-in-treating-congenital-midfacial-dysplasia-of-patients-with-facial-cleft
#15
Dong Li, Shanshan Bai, Zheyuan Yu, Liang Xu, Jie Yuan, Haisong Xu, Min Wei
AIM: To explore a new accurate way for the treatment of congenital midfacial dysplasia in facial cleft patients. MATERIALS AND METHODS: Between November 2015 and November 2016, 8 patients with nasal deformity and midfacial dysplasia (Tessier Nos. 3-11 cleft) were collected (median age, years; range = 15-20 years). Expanded frontal flap for nasal reconstruction and image-guided navigation-assisted surgery for modified nasal-maxillary-hard palatine osteotomy to advance the peri-pyriform bone structure were performed in all the patients...
August 8, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28795449/zebrafish-models-of-orofacial-clefts
#16
REVIEW
Kaylia Duncan, Kusumika Mukherjee, Robert A Cornell, Eric C Liao
Zebrafish is a model organism that affords experimental advantages toward investigating the normal function of genes associated with congenital birth defects. Here we summarize zebrafish studies of genes implicated in orofacial cleft (OFC). The most common use of zebrafish in this context has been to explore the normal function an OFC-associated gene product in craniofacial morphogenesis by inhibiting expression of its zebrafish ortholog. The most frequently deployed method has been to inject embryos with antisense morpholino oligonucleotides targeting the desired transcript...
August 10, 2017: Developmental Dynamics: An Official Publication of the American Association of Anatomists
https://www.readbyqxmd.com/read/28794913/wolf-hirschhorn-syndrome-clinical-and-genetic-data-from-a-first-case-diagnosed-in-central-africa
#17
Sébastien Mbuyi-Musanzayi, Aimé Lumaka, Toni Lubala Kasole, Erick Kasamba Ilunga, Bienvenu Yogolelo Asani, Prosper Lukusa Tshilobo, Prosper Kalenga Muenze, Hervé Reychler, François Tshilombo Katombe, Koenraad Devriendt
Wolf-Hirschhorn syndrome (WHS) is a multiple congenital anomaly-intellectual disability syndrome caused by a deletion involving chromosome 4p16.3. We report clinical and genetic findings of the first WHS patient diagnosed in central Africa. This boy who presented with cleft palate, microcephaly, severe growth delay, and intellectual disability was 12 years old. Typical craniofacial features were present, though the characteristic "Greek helmet" appearance of the nose was less evident, probably reflecting a variable expression related to the genetic background...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28794533/perioperative-management-of-patients-with-severe-hypophosphataemia-secondary-to-oncogenic-osteomalacia-our-experience-and-review-of-literature
#18
Alka Verma, Saipriya Tewari, Ashish Kannaujia
Oncogenic osteomalacia (OOM) is a rare paraneoplastic syndrome associated with mesenchymal tumours. It is characterised by phosphaturia, hypophosphataemia, decreased serum Vitamin D3 levels and severe osteomalacia. OOM-inducing tumours are usually benign, arising either from bone or soft tissue, with extremities and craniofacial region being the most common sites. Surgical resection of the tumour remains the mainstay of treatment. Challenges to an anaesthesiologist arise when such patients are planned for surgical resection of the underlying tumour...
July 2017: Indian Journal of Anaesthesia
https://www.readbyqxmd.com/read/28792150/immune-tolerance-of-human-dental-pulp-derived-mesenchymal-stem-cells-mediated-by-cd4%C3%A2-%C2%BAcd25%C3%A2-%C2%BAfoxp3%C3%A2-%C2%BA-regulatory-t-cells-and-induced-by-tgf-%C3%AE-1-and-il-10
#19
Jong Won Hong, Jung Hyun Lim, Chooryung J Chung, Tae Jo Kang, Tae Yeon Kim, Young Seok Kim, Tae Suk Roh, Dae Hyun Lew
PURPOSE: Most studies on immune tolerance of mesenchymal stem cells (MSCs) have been performed using MSCs derived from bone marrow, cord blood, or adipose tissue. MSCs also exist in the craniofacial area, specifically in teeth. The purpose of this study was to evaluate the mechanisms of immune tolerance of dental pulp-derived MSC (DP-MSC) in vitro and in vivo. MATERIALS AND METHODS: We isolated DP-MSCs from human dental pulp and co-cultured them with CD4⁺ T-cells...
September 2017: Yonsei Medical Journal
https://www.readbyqxmd.com/read/28791750/histone-deacetylase-1-and-2-are-essential-for-murine-neural-crest-proliferation-pharyngeal-arch-development-and-craniofacial-morphogenesis
#20
Zachary J Milstone, Grace Lawson, Chinmay M Trivedi
BACKGROUND: Craniofacial anomalies involve defective pharyngeal arch development and neural crest function. Copy number variation at 1p35, containing histone deacetylase 1 (Hdac1), or 6q21-22, containing Hdac2, are implicated in patients with craniofacial defects, suggesting an important role in guiding neural crest development. However, the roles of Hdac1 and Hdac2 within neural crest cells remain unknown. RESULTS: The neural crest and its derivatives express both Hdac1 and Hdac2 during early murine development...
August 9, 2017: Developmental Dynamics: An Official Publication of the American Association of Anatomists
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