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craniofacial cleft

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https://www.readbyqxmd.com/read/28087736/imputation-of-orofacial-clefting-data-identifies-novel-risk-loci-and-sheds-light-on-the-genetic-background-of-cleft-lip-%C3%A2-cleft-palate-and-cleft-palate-only
#1
Kerstin U Ludwig, Anne C Böhmer, John Bowes, Miloš Nikolić, Nina Ishorst, Niki Wyatt, Nigel L Hammond, Lina Gölz, Frederic Thieme, Sandra Barth, Hannah Schuenke, Johanna Klamt, Malte Spielmann, Khalid Aldhorae, Augusto Rojas-Martinez, Markus M Nöthen, Alvaro Rada-Iglesias, Michael J Dixon, Michael Knapp, Elisabeth Mangold
Nonsyndromic cleft lip with or without cleft palate (nsCL/P) is among the most common human birth defects with multifactorial etiology. Here, we present results from a genome-wide imputation study of nsCL/P in which, after adding replication cohort data, four novel risk loci for nsCL/P are identified (at chromosomal regions 2p21, 14q22, 15q24 and 19p13). On a systematic level, we show that the association signals within this high-density dataset are enriched in functionally-relevant genomic regions that are active in both human neural crest cells (hNCC) and mouse embryonic craniofacial tissue...
January 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28081210/mutations-in-hyal2-encoding-hyaluronidase-2-cause-a-syndrome-of-orofacial-clefting-and-cor-triatriatum-sinister-in-humans-and-mice
#2
Martina M A Muggenthaler, Biswajit Chowdhury, S Naimul Hasan, Harold E Cross, Brian Mark, Gaurav V Harlalka, Michael A Patton, Miho Ishida, Elijah R Behr, Sanjay Sharma, Kenneth Zahka, Eissa Faqeih, Brian Blakley, Mike Jackson, Melissa Lees, Vernon Dolinsky, Leroy Cross, Philip Stanier, Claire Salter, Emma L Baple, Fowzan S Alkuraya, Andrew H Crosby, Barbara Triggs-Raine, Barry A Chioza
Orofacial clefting is amongst the most common of birth defects, with both genetic and environmental components. Although numerous studies have been undertaken to investigate the complexities of the genetic etiology of this heterogeneous condition, this factor remains incompletely understood. Here, we describe mutations in the HYAL2 gene as a cause of syndromic orofacial clefting. HYAL2, encoding hyaluronidase 2, degrades extracellular hyaluronan, a critical component of the developing heart and palatal shelf matrix...
January 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28072550/rotational-advancement-in-cleft-nose-rhinoplasty-buccal-mucosal-grafts-serve-as-a-powerful-tool
#3
Andreas Kehrer, Tim H J Nijhuis, Pál Pesthy, Sten Willemsen, René Poublon, Jacques J J N M van der Meulen
OBJECTIVE:   Our aim was to analyze our technique of a modified rotational advancement in conjunction with buccal mucosal grafts (BMGs) in a subgroup of severe cleft cases. DESIGN:   A retrospective clinical and photographic evaluation was conducted. Columella angle (CA) and tip projection (TPR) served as instruments in a photometric analysis. SETTING:   Academic university hospital and specialized craniofacial cleft center. PATIENTS:   At the time of the secondary rhinoplasty, 61 cleft patients were included, all 17 years or older...
January 10, 2017: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/28070691/biological-characteristic-effects-of-human-dental-pulp-stem-cells-on-poly-%C3%AE%C2%B5-caprolactone-biphasic-calcium-phosphate-fabricated-scaffolds-using-modified-melt-stretching-and-multilayer-deposition
#4
Natkrita Wongsupa, Thongchai Nuntanaranont, Suttatip Kamolmattayakul, Nuttawut Thuaksuban
Craniofacial bone defects such as alveolar cleft affect the esthetics and functions that need bone reconstruction. The advanced techniques of biomaterials combined with stem cells have been a challenging role for maxillofacial surgeons and scientists. PCL-coated biphasic calcium phosphate (PCL-BCP) scaffolds were created with the modified melt stretching and multilayer deposition (mMSMD) technique and merged with human dental pulp stem cells (hDPSCs) to fulfill the component of tissue engineering for bone substitution...
February 2017: Journal of Materials Science. Materials in Medicine
https://www.readbyqxmd.com/read/28069795/intraflagellar-transport-88-ift88-is-crucial-for-craniofacial-development-in-mice-and-is-a-candidate-gene-for-human-cleft-lip-and-palate
#5
Hua Tian, Jifan Feng, Jingyuan Li, Thach-Vu Ho, Yuan Yuan, Yang Liu, Frederick Brindopke, Jane C Figueiredo, William Magee, Pedro A Sanchez-Lara, Yang Chai
Ciliopathies are pleiotropic human diseases resulting from defects of the primary cilium, and these patients often have cleft lip and palate. IFT88 is required for the assembly and function of the primary cilia, which mediate the activity of key developmental signaling pathways. Through whole exome sequencing of a family of three affected siblings with isolated cleft lip and palate, we discovered that they share a novel missense mutation in IFT88 (c.915G>C, p.E305D), suggesting this gene should be considered a candidate for isolated orofacial clefting...
January 9, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28068523/rs12941170-at-sox9-gene-associated-with-orofacial-clefts-in-chinese
#6
Zhong-Lin Jia, Sha He, Shu-Yuan Jiang, Bi-He Zhang, Shi-Jun Duan, Jia-Yu Shi, Ning Huang, Wen-Chao Zhu, Bing Shi
OBJECTIVE: Non-syndromic orofacial cleftings (NSOCs) are considered as complex trait, which results from genetic and/or environmental modifiers. Current findings could only explain small portion of the NSOCs. SOX9 gene plays an important role during craniofacial development in animal models and the Pierre Robin sequence (PRS). However, its role in non-syndromic clefts remains unknown. DESIGN: In this study, we selected eight SNPs in and around SOX9 gene to make maximum coverage, and genotyped them by using RFLP-PCR and ligase detection reaction (LDR) methods to test its associations among 151 NSOCs (53 NSCLP, 52 NSCLO and 46 NSCPO) from Western Han Chinese population...
December 30, 2016: Archives of Oral Biology
https://www.readbyqxmd.com/read/28054174/genome-wide-meta-analyses-of-nonsyndromic-orofacial-clefts-identify-novel-associations-between-foxe1-and-all-orofacial-clefts-and-tp63-and-cleft-lip-with-or-without-cleft-palate
#7
Elizabeth J Leslie, Jenna C Carlson, John R Shaffer, Azeez Butali, Carmen J Buxó, Eduardo E Castilla, Kaare Christensen, Fred W B Deleyiannis, L Leigh Field, Jacqueline T Hecht, Lina Moreno, Ieda M Orioli, Carmencita Padilla, Alexandre R Vieira, George L Wehby, Eleanor Feingold, Seth M Weinberg, Jeffrey C Murray, Terri H Beaty, Mary L Marazita
Nonsyndromic orofacial clefts (OFCs) are a heterogeneous group of common craniofacial birth defects with complex etiologies that include genetic and environmental risk factors. OFCs are commonly categorized as cleft lip with or without cleft palate (CL/P) and cleft palate alone (CP), which have historically been analyzed as distinct entities. Genes for both CL/P and CP have been identified via multiple genome-wide linkage and association studies (GWAS); however, altogether, known variants account for a minority of the estimated heritability in risk to these craniofacial birth defects...
January 4, 2017: Human Genetics
https://www.readbyqxmd.com/read/28045810/the-protruding-premaxilla-is-our-current-approach-the-right-answer
#8
Katelyn G Bennett, Heather M Hendricks, Todd E Thurston, Steven J Kasten, Christian J Vercler, Steven R Buchman
BACKGROUND: In bilateral cleft patients, surgeons usually attempt to move the premaxillary segment posteriorly. These patients almost always develop maxillary hypoplasia, rendering our current algorithms questionable. The authors sought to determine if the lateral segments are in an appropriate position to serve as a target for movement of the premaxilla. METHODS: Bilateral cleft lip and palate patients treated at the University of Michigan from 1997 to 2015 were reviewed...
December 30, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28029220/exome-sequencing-provides-additional-evidence-for-the-involvement-of-arhgap29-in-mendelian-orofacial-clefting-and-extends-the-phenotypic-spectrum-to-isolated-cleft-palate
#9
Huan Liu, Tamara Busch, Steven Eliason, Deepti Anand, Steven Bullard, Lord J J Gowans, Nichole Nidey, Aline Petrin, Eno-Abasi Augustine-Akpan, Irfan Saadi, Martine Dunnwald, Salil A Lachke, Ying Zhu, Adebowale Adeyemo, Brad Amendt, Tony Roscioli, Robert Cornell, Jeffrey Murray, Azeez Butali
BACKGROUND: Recent advances in genomics methodologies, in particular the availability of next-generation sequencing approaches have made it possible to identify risk loci throughout the genome, in particular the exome. In the current study, we present findings from an exome study conducted in five affected individuals of a multiplex family with cleft palate only. METHODS: The GEnome MINIng (GEMINI) pipeline was used to functionally annotate the single nucleotide polymorphisms, insertions and deletions...
December 28, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/28027171/measurement-of-distraction-force-in-cleft-lip-and-palate-patients-during-le-fort-i-maxillary-advancement-with-rigid-external-distraction
#10
Hiromi Sawada, Takuya Ogawa, Keiichi Kataoka, Yoshiyuki Baba, Keiji Moriyama
OBJECTIVE: Maxillary distraction osteogenesis (DO) is a mainstream surgical technique for patients who have severe maxillary hypoplasia associated with craniofacial syndromes and cleft-related deformities. However, limited information about the biomechanical aspects of maxillary DO is available limiting broad utilization and improvements to the procedure. The objective of this study was to analyze force levels during the active distraction process and to investigate the relationship between distraction force and maxillary movement during Le Fort I maxillary DO using a rigid external distraction (RED) system...
December 23, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28019042/evidence-for-snp-snp-interaction-identified-through-targeted-sequencing-of-cleft-case-parent-trios
#11
Yanzi Xiao, Margaret A Taub, Ingo Ruczinski, Ferdouse Begum, Jacqueline B Hetmanski, Holger Schwender, Elizabeth J Leslie, Daniel C Koboldt, Jeffrey C Murray, Mary L Marazita, Terri H Beaty
Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is the most common craniofacial birth defect in humans, affecting 1 in 700 live births. This malformation has a complex etiology where multiple genes and several environmental factors influence risk. At least a dozen different genes have been confirmed to be associated with risk of NSCL/P in previous studies. However, all the known genetic risk factors cannot fully explain the observed heritability of NSCL/P, and several authors have suggested gene-gene (G × G) interaction may be important in the etiology of this complex and heterogeneous malformation...
December 26, 2016: Genetic Epidemiology
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/28005770/a-new-surgical-approach-for-tessier-no-4-facial-cleft-reconstruction-lip-rescue-flap
#13
Ugur Horoz, Tomoaki Kuroki, Nabuhiro Sato, Yasuyoshi Tosa, Hulda Rifat Ozakpinar, Ali Teoman Tellioglu, Shinya Yoshimoto
Craniofacial clefts are rare, severe challenges for surgeons about which there is limited literature. Tessier Number 4 (No. 4) clefts are one of the most complex craniofacial anomalies and present difficulties in surgical treatment. The most-common deformities associated with Tessier No. 4 clefts are displacements of the lower eyelids, medial canthus, and ala and decreased distance between the lower eyelids and lips. In surgery to correct these deformities, the greatest challenges are the design and the placement of the landmarks and incisions...
November 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28005737/nasoalveolar-molding-therapy-for-the-treatment-of-unilateral-cleft-lip-and-palate-improves-nasal-symmetry-and-maxillary-alveolar-dimensions
#14
María Gloria Ruíz-Escolano, Adoración Martínez-Plaza, Ricardo Fernández-Valadés, Rosario Cortés-Sánchez, María Angeles Muñoz-Miguelsanz, Eugenio Velasco-Ortega, María Bélen Perez-Ureña, Kamel Matar-Satuf, Antonio José España-López
OBJECTIVE: The aim of this study is to assess the esthetic and morphologic outcomes before surgery using nasoalveolar molding (NAM) therapy in children with unilateral cleft lip and palate. DESIGN: A prospective analysis was performed. SETTING: The study was carried out in the Congenital Malformations Craniofacial and Cleft Lip and Palate Unit, Hospital Virgen de las Nieves, Andalusian Health Service, Granada (Spain). PATIENTS: Twenty consecutively enrolled infants ranging in age from 7 to 30 days with nonsyndromic unilateral cleft lip and palate treated from 2008 to 2012...
November 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27994432/presurgical-nasoalveolar-molding-a-boon-to-facilitate-the-surgical-repair-in-infants-with-cleft-lip-and-palate
#15
Prabhakar Ramasetty Attiguppe, Y M Karuna, Chandrashekar Yavagal, Saraswathi V Naik, B M Deepak, Rekhamani Maganti, Chaithanya G Krishna
Cleft lip and palate (CLP) is the most common congenital craniofacial anomaly. Rehabilitation of CLP generally requires a team approach. Alveolar and nasal reconstruction for these patients is a challenge for the reconstructive surgeon. Various procedures have been attempted to reduce the cleft gap, so as to obtain esthetic results postsurgically. The presurgical nasoalveolar molding (PNAM) technique, developed by Grayson, is a new approach to presurgical infant orthopedics. PNAM reduces the severity of the initial cleft alveolar and nasal deformity...
October 2016: Contemporary Clinical Dentistry
https://www.readbyqxmd.com/read/27990279/genetic-factors-influencing-risk-to-orofacial-clefts-today-s-challenges-and-tomorrow-s-opportunities
#16
REVIEW
Terri H Beaty, Mary L Marazita, Elizabeth J Leslie
Orofacial clefts include cleft lip (CL), cleft palate (CP), and cleft lip and palate (CLP), which combined represent the largest group of craniofacial malformations in humans with an overall prevalence of one per 1,000 live births. Each of these birth defects shows strong familial aggregation, suggesting a major genetic component to their etiology. Genetic studies of orofacial clefts extend back centuries, but it has proven difficult to define any single etiologic mechanism because many genes appear to influence risk...
2016: F1000Research
https://www.readbyqxmd.com/read/27959587/the-double-tessier-7-cleft-an-unusual-presentation-of-a-transverse-facial-cleft
#17
Janani A Raveendran, Jerry W Chao, Gary F Rogers, Michael J Boyajian
Congenital macrostomia, or Tessier number 7 cleft, is a rare craniofacial anomaly. We present a unique patient with bilateral macrostomia that consisted of a "double" transverse cleft on the left side and a single transverse cleft on the right side. A staged reconstructive approach was used to repair the "double" left-sided clefts. This staged technique produced a satisfactory aesthetic and functional outcome.
December 13, 2016: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/27939037/craniofacial-structure-variations-in-patients-with-palatal-anomalies-and-velopharyngeal-dysfunction
#18
Ariela Nachmani, Dror Aiezenbud, Ben Nageris, Omri Emodi, Firas Kassem
PURPOSE: Cephalometric evaluation of craniofacial and craniopharyngeal morphology is important for understanding the factors affecting velopharyngeal dysfunction (VPD) in patients with palatal anomalies. MATERIALS AND METHODS: In this study, 366 patients with VPD were retrospectively stratified into cleft lip and palate (CLP), cleft palate (CP), submucous cleft palate (SMCP), occult submucous cleft palate (OSMCP), and non-CP groups. Lateral cephalometrics were used to assess craniofacial, craniopharyngeal, and velopharyngeal anatomy...
November 20, 2016: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/27931481/policy-on-management-of-patients-with-cleft-lip-palate-and-other-craniofacial-anomalies
#19
(no author information available yet)
No abstract text is available yet for this article.
October 2016: Pediatric Dentistry
https://www.readbyqxmd.com/read/27928243/surgical-repair-of-a-median-cleft-of-the-upper-lip-via-a-pfeifer-incision-a-case-report
#20
Rajeev Pandey, Rajat Gupta, Nitin Bhagat, Aviral Verma
Median cleft is the midline cleft of the lip. It develops due to incomplete or failed fusion of the median nasal prominence. It can present with minimal deformities such as involvement of the vermilion border, or complex clefting of the midline structures and brain. Median clefts are broadly classified as true and false clefts. This case report describes a rare case of median cleft of the upper lip involving the white roll, which was not associated with any other deformities. Treatment included reconstruction of the philtrum and the cupid's bow while maintaining vermilion fullness and continuity, and minimizing scar formation...
March 2016: Journal of Dentistry of Tehran University of Medical Sciences
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