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https://www.readbyqxmd.com/read/28732181/irf6-and-spry4-signaling-interact-in-periderm-development
#1
Y A Kousa, R Roushangar, N Patel, A Walter, P Marangoni, R Krumlauf, O D Klein, B C Schutte
Rare mutations in IRF6 and GRHL3 cause Van der Woude syndrome, an autosomal dominant orofacial clefting disorder. Common variants in IRF6 and GRHL3 also contribute risk for isolated orofacial clefting. Similarly, variants within genes that encode receptor tyrosine kinase (RTK) signaling components, including members of the FGF pathway, EPHA3 and SPRY2, also contribute risk for isolated orofacial clefting. In the mouse, loss of Irf6 or perturbation of Fgf signaling leads to abnormal oral epithelial adhesions and cleft palate...
July 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28727858/association-of-velopharyngeal-insufficiency-with-quality-of-life-and-patient-reported-outcomes-after-speech-surgery
#2
Aditi Bhuskute, Jonathan R Skirko, Christina Roth, Ahmed Bayoumi, Blythe Durbin-Johnson, Travis T Tollefson
Importance: Patients with cleft palate and other causes of velopharyngeal insufficiency (VPI) suffer adverse effects on social interactions and communication. Measurement of these patient-reported outcomes is needed to help guide surgical and nonsurgical care. Objectives: To further validate the VPI Effects on Life Outcomes (VELO) instrument, measure the change in quality of life (QOL) after speech surgery, and test the association of change in speech with change in QOL...
July 20, 2017: JAMA Facial Plastic Surgery
https://www.readbyqxmd.com/read/28725453/development-of-an-implementation-intention-based-intervention-to-change-children-s-and-parent-carers-behaviour
#3
Karen Davies, Christopher J Armitage, Yin-Ling Lin, James Munro, Tanya Walsh, Peter Callery
BACKGROUND: Implementation intentions enable individuals to translate good intentions into action. Parents and children can find maintaining oral health difficult, as evidenced by the presence of tooth decay. This is a common condition in children in spite of being preventable through the use of regular tooth brushing, fluoride protection and avoiding sugar intake. Even when parents and children are positive about looking after the teeth, they can face challenges in maintaining consistent habits...
2018: Pilot and Feasibility Studies
https://www.readbyqxmd.com/read/28714631/-velopharyngeal-insufficiency-in-children
#4
Anthony De Buys Roessingh, Oumama El Ezzi, Céline Richard, Céline Béguin, Chantal Zbinden-Trichet, Giorgio La Scala, Igor Leuchter
Velopharyngeal insufficiency (VPI) represents an incomplete closure between the soft palate and the posterior pharyngeal wall. Its etiology can be anatomical (cleft palate), neurologic, or iatrogenic (after adenoidectomy). The evaluation of a VPI begins with a through speech and language assessment and can be complemented by instrumental investigations. VPI treatment relies on its early identification, followed by a specific speech therapy management. Surgery is performed in case of no improvement with speech therapy or in case of an anatomical defect not allowing the child to improve...
February 15, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28713967/involvement-of-notch2-in-all%C3%A2-trans-retinoic-acid%C3%A2-induced-inhibition-of-mouse-embryonic-palate-mesenchymal-cell-proliferation
#5
Yadong Zhang, Shiyi Dong, Jianning Wang, Miao Wang, Mu Chen, Hongzhang Huang
Cleft palate is among the most common congenital disorders, and can be induced by exposure to all‑trans retinoic acid (atRA) during mice and human embryogenesis. However, the mechanism underlying the implication of atRA in the development of cleft palate has yet to be elucidated. In the present study, atRA administered by gavage resulted in formation of a cleft palate in 99% of treated C57BL/6 mice. Notch2 was revealed to be upregulated in mouse embryonic palate mesenchymal (MEPM) cells in the atRA‑treated group compared with untreated control mice between embryonic day (E)12...
July 6, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28713745/recovering-breathing-and-feeding-of-a-newborn-with-pierre-robin-sequence
#6
Francisnele Maria de Aquino Fraporti Tomáz, Alvaro Henrique Borges, Alexandre Meireles Borba, Luiz Evaristo Ricci Volpato
Pierre Robin sequence (PRS) is characterized by the triad micrognathia, glossoptosis, and airway obstruction, commonly associated with cleft palate. This study reports the case of a patient with characteristics consistent with the diagnosis of PRS in the 1(st) week of life. To stabilize the airway, oro-tracheal intubation was performed without success, followed by tracheostomy and glossopexy and after a small improvement in symptoms, it was decided to perform the mandibular distraction osteogenesis (MDO). At the age of 6, her maxillofacial development was within expectations, with patent airway, the presence of deciduous teeth, and without neurological impairment...
January 2017: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/28713741/reconstruction-of-drug-induced-cleft-palate-using-bone-marrow-mesenchymal-stem-cell-in-rodents
#7
Julie Christy Amalraj, Manasa Gangothri, Hari Babu
BACKGROUND: Triamcinolone acetonide (TAC) (Kenacort*) is a commonly used synthetic glucocorticoid in today's medical practice. The drug is also a potential agent in inducing cleft palates in rats. This drug has been used to induce cleft palate in the fetus of the pregnant rats to bring out a suitable animal model for human cleft lip and palate. The drug was given intraperitoneally to induce congenital cleft palate in pregnant mother rats. AIM: The aim of this study is to induce congenital cleft palate in pregnant Wister albino rats and reconstruct the defect with bone marrow mesenchymal stem cells (BMSCs) isolated from the same species along with PLGA (poly lactic co glycolic acid) scaffold...
January 2017: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/28713737/maxillary-distraction-osteogenesis-in-unilateral-cleft-lip-and-palate-patients-with-rigid-external-distraction-system
#8
Shadi Alkhouri, Peter D Waite, Matthew B Davis, Ejvis Lamani, Chung How Kau
AIM: Distraction osteogenesis (DO) is a treatment option for patients with maxillary hypoplasia secondary to cleft lip and palate (CLP). PURPOSE: The aim of this study is to present a technique for maxillary DO using Le Fort I osteotomy with rigid external distraction (RED) system. SUBJECTS AND METHODS: The patient presented in this paper was an Asian female with CLP aged 13 years and 6 months. She presented with severe midfacial deficiency with a Class III dental malocclusion with a negative overjet and concave facial profile...
January 2017: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/28713498/identical-twins-with-pierre-robin-syndrome-unusual-encounter
#9
Nabil Shdaifat, Zaid Al-Zoubi, Hazem Khraisat, Rana Al-Omor, Khaled Matar
New born babies could suffer from multiple craniofacial abnormalities, such as Pierre Robin syndrome, which consists of micrognathia and relative macroglossia with or without cleft palate. Although Pierre Robin syndrome is well described in literature, only a few have mentioned its occurrence in identical twins. This paper presents a rare incident of full-term twin babies born with the sequence of Pierre Robin syndrome, which consists of micrognathia, cleft palate, and glossoptosis. Although it is a rare coincidence, Pierre Robin syndrome still can occur in identical twin babies...
May 2017: Electronic Physician
https://www.readbyqxmd.com/read/28712851/irf6-rs2235375-single-nucleotide-polymorphism-is-associated-with-isolated-non-syndromic-cleft-palate-but-not-with-cleft-lip-with-or-without-palate-in-south-indian-population
#10
Venkatesh Babu Gurramkonda, Altaf Hussain Syed, Jyotsna Murthy, Bhaskar V K S Lakkakula
INTRODUCTION: Transcription factors are very diverse family of proteins involved in activating or repressing the transcription of a gene at a given time. Several studies using animal models demonstrated the role of transcription factor genes in craniofacial development. OBJECTIVE: We aimed to investigate the association of IRF6 intron-6 polymorphism in the non-syndromic cleft lip with or without Palate in a south Indian population. METHODS: 173 unrelated nonsyndromic cleft lip with or without Palate patients and 176 controls without clefts patients were genotyped for IRF6 rs2235375 variant by allele-specific amplification using the KASPar single nucleotide polymorphism genotyping system...
June 26, 2017: Brazilian Journal of Otorhinolaryngology
https://www.readbyqxmd.com/read/28711741/confirmation-that-mutations-in-ddx59-cause-an-autosomal-recessive-form-of-oral-facial-digital-syndrome-further-delineation-of-the-ddx59-phenotype-in-two-new-families
#11
Sara Faily, Rahat Perveen, Jill Urquhart, Kate Chandler, Jill Clayton-Smith
We report three probands from two unrelated consanguineous families of South Asian origin who all carry the same rare novel homozygous variant within the dead box helicase gene DDX59 in association with features of oral-facial-digital syndrome (OFDS). DDX59 variants have been reported previously in an unclassified, autosomal recessive form of OFDS; clinically associated with features including tongue lobulation, cleft palate, frontal bossing, hypertelorism and postaxial polydactyly. All three probands had lobulated tongues with tongue hamartomas, abnormal tongue tip, developmental delay and microcephaly, with just one proband demonstrating polydactlyly...
July 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28709577/insufficient-evidence-suggesting-an%C3%A2-association-between-maternal-tobacco-exposure-and-cleft-lip-and%C3%A2-palate
#12
Romina Brignardello-Petersen
No abstract text is available yet for this article.
June 23, 2017: Journal of the American Dental Association
https://www.readbyqxmd.com/read/28708645/a-digital-assessment-of-the-maxillary-deformity-correction-in-infants-with-bilateral-cleft-lip-and-palate-using-computer-aided-nasoalveolar-molding
#13
Xin Gong, Jun Zhao, Jiawei Zheng, Quan Yu
OBJECTIVES: To evaluate the maxillary alveolar repositioning of the infants with bilateral cleft lip and palate (BCLP) undergoing computer-aided nasoalveolar molding (CAD-NAM). METHODS: A total of 19 BCLP infants undergoing CAD-NAM were recruited as the treatment group, and 21 nonpresurgically treated BCLP patients served as controls. The upper alveolar morphology was measured and evaluated. Changes in all variables between pre- and post-CAD-NAM were compared. RESULTS: By the end of CAD-NAM, significant difference was found in the P-A, P'-A', and L-ideal midline (P < 0...
July 13, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28708641/secondary-palatal-elongation-improvement-in-speech-quality
#14
Muzaffer Çelik
Cleft palate is one of the challenging problems in the field of craniofacial surgery. In particular, the conventional methods of bilateral and severe cleft palate repairs have failed to achieve normal speech. In most instances, secondary procedures such as pharyngoplasty and pharyngeal flap surgery are performed to improve speech.This study introduces secondary palatal elongation (SPE) as a new approach to cleft palate repair. The patients included usually had a short palate and unrepaired palatal muscles. The authors' procedure involved dissecting the previously repaired palatal mucosa and pushing back and cutting the nasal mucosa of the palate horizontally and further pushing it back...
July 13, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28708640/is-cleft-severity-correlated-with-intrinsic-growth-pattern-observation-from-unoperated-adult-patients-with-submucous-cleft-palate
#15
Congcong Cao, Xue Xu, Bing Shi, Qian Zheng, Jingtao Li
OBJECTIVE: This study aimed to evaluate the craniofacial morphology of unoperated adult submucous cleft palate (SMCP) patients and to explore the possible correlation between the intrinsic growth insufficiency of the maxillofacial complex and the severity of the cleft. MATERIALS AND METHODS: A total of 20 unoperated SMCP patients, 20 unoperated overt cleft palate (OCP) patients, and 32 normal controls, ages between 18 and 30, were included for cephalometric analysis...
July 13, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28708467/gender-differences-in-surgical-treatment-of-patients-with-cleft-lip-and-palate
#16
Anna Paganini, Camilla Hörfelt, Hans Mark
Numerous gender-based differences in medical treatment have been recognized due to conscious or unconscious perceptions, i.e. gender bias. The aim of the present study was to investigate whether gender differences exist in the surgical treatment of patients with cleft lip and palate (CLP) anomalies. This study is a retrospective review of 235 consecutive patients with non-syndromic unilateral CLP or bilateral CLP born between 1966 and 1986. Each chart was reviewed, and 2178 surgical procedures were registered and categorized as primary surgery (primary lip, palatal and alveolar repair) or secondary surgery (aesthetic and functional revision)...
July 14, 2017: Journal of Plastic Surgery and Hand Surgery
https://www.readbyqxmd.com/read/28705814/head-and-neck-mri-findings-in-charge-syndrome
#17
M J Hoch, S H Patel, D Jethanamest, W Win, G M Fatterpekar, J T Roland, M Hagiwara
Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness (CHARGE) syndrome is a disorder with multiple congenital anomalies seen on imaging. A retrospective review of 10 patients with CHARGE syndrome who underwent MR imaging of the brain as part of a preoperative evaluation for cochlear implantation was conducted. Structural abnormalities of the entire MR imaging of the head were evaluated, including the auditory system, olfactory system, face, skull base, and central nervous system...
July 13, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28699387/low-laser-therapy-a-strategy-to-promote-the-osteogenic-differentiation-of-deciduous-dental-pulp-stem-cells-from-cleft-lip-and-palate-patients
#18
Carla Cristina Gomes Pinheiro, Milena Correa de Pinho, Ana Cecília Corrêa Aranha, Eduardo Fregnani, Daniela Franco Bueno
Dental pulp stem cells (DPSC) can undergo several types of differentiation, including osteogenic differentiation. One osteogenesis-inducing factor that has been previously described is "in vitro" low-level laser irradiation of cells. Laser irradiation promotes the acceleration of bone matrix mineralization of the cell strain. However, no consensus exists regarding the dose and treatment time. We used DPSC strains from cleft lip and palate patients because new bone tissue engineering strategies have used DPSC in preclinical and clinical trials for the rehabilitation of alveolar bone clefts...
July 12, 2017: Tissue Engineering. Part A
https://www.readbyqxmd.com/read/28697314/grainyhead-like-transcription-factors-in-craniofacial-development
#19
M R Carpinelli, M E de Vries, S M Jane, S Dworkin
Craniofacial development in vertebrates involves the coordinated growth, migration, and fusion of several facial prominences during embryogenesis, processes governed by strict genetic and molecular controls. A failure in any of the precise spatiotemporal sequences of events leading to prominence fusion often leads to anomalous facial, skull, and jaw formation-conditions termed craniofacial defects (CFDs). Affecting approximately 0.1% to 0.3% of live births, CFDs are a highly heterogeneous class of developmental anomalies, which are often underpinned by genetic mutations...
July 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28692808/modulating-wnt-signaling-rescues-palate-morphogenesis-in-pax9-mutant-mice
#20
C Li, Y Lan, R Krumlauf, R Jiang
Cleft palate is a common birth defect caused by disruption of palatogenesis during embryonic development. Although mutations disrupting components of the Wnt signaling pathway have been associated with cleft lip and palate in humans and mice, the mechanisms involving canonical Wnt signaling and its regulation in secondary palate development are not well understood. Here, we report that canonical Wnt signaling plays an important role in Pax9-mediated regulation of secondary palate development. We found that cleft palate pathogenesis in Pax9-deficient embryos is accompanied by significantly reduced expression of Axin2, an endogenous target of canonical Wnt signaling, in the developing palatal mesenchyme, particularly in the posterior regions of the palatal shelves...
July 1, 2017: Journal of Dental Research
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