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https://www.readbyqxmd.com/read/28926086/common-variants-in-dlg1-locus-are-associated-with-non-syndromic-cleft-lip-with-or-without-cleft-palate
#1
Adrianna Mostowska, Agnieszka Gaczkowska, Kacper Żukowski, Kerstin U Ludwig, Kamil K Hozyasz, Piotr Wójcicki, Elizabeth Mangold, Anne C Böhmer, Stefanie Heilmann-Heimbach, Michael Knapp, Małgorzata Zadurska, Barbara Biedziak, Margareta Budner, Agnieszka Lasota, Agata Daktera-Micker, Paweł P Jagodziński
Non-syndromic cleft lip with or without cleft palate (nsCL/P) is a common craniofacial anomaly with a complex and heterogeneous etiology. Knowledge regarding specific genetic factors underlying this birth defect is still not well understood. Therefore, we conducted an independent replication analysis for the top-associated variants located within the DLG1 locus at chromosome 3q29, which was identified as a novel cleft-susceptibility locus in our genome-wide association study (GWAS). Mega-analysis of the pooled individual data from the GWAS and replication study confirmed that common DLG1 variants are associated with the risk of nsCL/P...
September 19, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28922326/the-smile-index-part-1-a-large-scale-study-of-phenotypic-norms-for-pre-and-post-operative-unilateral-cleft-lip
#2
Caroline A Yao, Thomas Imahiyerobo, Jordan Swanson, Allyn Auslander, Diego De Cardenas, Jane C Figueiredo, Meghan McCullough, Melinda Costa, Richard Vanderburg, William P Magee
BACKGROUND: Unilateral cleft lip has a spectrum of disease morphology but severity assessments are difficult given the absence of an accessible, objective assessment tools or reference data. We characterize the spectrum of cleft morphology before and after surgical repair for a large, multi-ethnic population using easily identifiable facial landmarks collected through a novel smart phone-based application. METHODS: Anthropometric measurements and standardized photographs were prospectively collected in Morocco, Bolivia, Vietnam and Madagascar during medical missions in 2015 utilizing an application designed specifically for the study...
September 14, 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28922239/cleft-lip-and-palate-an-experience-of-a-developing-center-in-egypt
#3
Tarek A Abulezz
BACKGROUND: Cleft lip and palate is the most common congenital anomaly in the head and neck region. These clefts are not just a distortion of the normal appearance, but they may impose a major influence on the whole patient's life, both functionally and psychologically. Clefts affect feeding, teething, hearing, speech, and social communication. The incidence of cleft lip and palate is variable in different countries and different communities. The surgical correction of cleft lip and palate went through many evolutions, but still there is no single universal protocol of repair; however, many European countries have adopted national protocols and have established cleft centers for the management and follow up of affected population...
September 15, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28921849/effects-of-pre-surgical-nasoalveolar-moulding-on-maxillary-arch-and-nasal-form-in-unilateral-cleft-lip-and-palate-before-lip-surgery
#4
T Fuchigami, N Kimura, T Kibe, M Tezuka, M S Amir, H Suga, Y Takemoto, M Hashiguchi, A Maeda-Iino, N Nakamura
OBJECTIVES: To investigate the effects of pre-surgical nasoalveolar moulding (PNAM) on the maxillary arch and nasal form in patients with unilateral cleft lip and palate (UCLP). SETTING AND SAMPLE POPULATION: This is a retrospective case series study. The subjects were infants with complete UCLP who were treated with PNAM (n = 18) at Kagoshima University Medical and Dental Hospital (Japan) between 2006 and 2013. MATERIAL AND METHODS: Maxillary dental casts and facial photographs were taken at the time of the first visit and immediately prior to lip surgery to evaluate the maxillary arch and nasal form changes...
September 18, 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28920163/correction-of-whistle-deformity-using-autologous-free-fat-grafting-first-results-of-a-pilot-study-and-review-of-the-literature
#5
Sven Holger Baum, Gunnar Rieger, Roman Pförtner, Christopher Mohr
PURPOSE: Whistle deformities are frequent sequelae after surgical correction of cleft lip, trauma, or tumor excision. The aim of this study was to examine the role of autologous free fat grafting in the reconstruction of whistle deformity. PATIENTS: Fifteen patients with whistle deformity were enrolled in this pilot study. The mean follow-up period was 19 months. Liposuction was done followed by the replantation of an average of 2.2 ml autologous fat per patient (range 0...
September 17, 2017: Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28915117/molecular-genetic-and-clinical-delineation-of-22-patients-with-congenital-hypogonadotropic-hypogonadism
#6
Kohei Aoyama, Haruo Mizuno, Tatsushi Tanaka, Takao Togawa, Yutaka Negishi, Kei Ohashi, Ikumi Hori, Masako Izawa, Takashi Hamajima, Shinji Saitoh
BACKGROUND: Congenital hypogonadotropic hypogonadism (CHH) is classified as Kallmann syndrome (KS) with anosmia/hyposmia or normosmic (n)CHH. Here, we investigated the genetic causes and phenotype-genotype correlations in Japanese patients with CHH. METHODS: We enrolled 22 Japanese patients with CHH from 21 families (18 patients with KS and 4 with nCHH) and analyzed 27 genes implicated in CHH by next-generation and Sanger sequencing. RESULTS: We detected 12 potentially pathogenic mutations in 11 families, with three having a mutation in ANOS1 (X-linked recessive); three and four having a mutation in FGFR1 and CHD7, respectively (autosomal dominant); and one having two TACR3 mutations (autosomal recessive)...
September 15, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28906376/nucleotide-variants-of-the-nat2-and-egf61-genes-in-patients-in-northern-china-with-nonsyndromic-cleft-lip-with-or-without-cleft-palate
#7
Jiaqun Yan, Hongquan Song, Na Mi, Xiaohui Jiao, Yanru Hao
BACKGROUND: Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common orofacial congenital anomaly. The objective of the present study was to analyze the association of single nucleotide polymorphisms (SNPs) in the NAT2 and EGF61genes with NSCL/P in a Chinese population. METHODS: The frequencies of NAT2 (rs1799929)and EGF61 (rs4444903) gene variations were examined in a group of 285 NSCL/P patients and in 315 controls. Peripheral venous blood samples were collected for DNA extraction...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28906329/cleft-lip-and-palate-repair-our-experience
#8
Gian Luca Gatti, Nicola Freda, Alessandro Giacomina, Marina Montemagni, Andrea Sisti
INTRODUCTION: Cleft lip and palate is the most frequent congenital craniofacial deformity. In this article, the authors describe their experience with cleft lip and palate repair. METHODS: Data regarding patients presenting with primary diagnosis of cleft lip and/or palate, between 2009 and 2015, were reviewed. Details including demographics, type of cleft, presence of known risk factors, surgical details, and follow-up visits were collected. Documented complications were reported...
September 12, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28906328/the-americleft-project-a-modification-of-asher-mcdade-method-for-rating-nasolabial-esthetics-in-patients-with-unilateral-cleft-lip-and-palate-using-q-sort
#9
Alicia Stoutland, Ross E Long, Ana Mercado, John Daskalogiannakis, Ronald R Hathaway, Kathleen A Russell, Emily Singer, Gunvor Semb, William C Shaw
The purpose of this study was to investigate ways to improve rater reliability and satisfaction in nasolabial esthetic evaluations of patients with complete unilateral cleft lip and palate (UCLP), by modifying the Asher-McDade method with use of Q-sort methodology. Blinded ratings of cropped photographs of one hundred forty-nine 5- to 7-year-old consecutively treated patients with complete UCLP from 4 different centers were used in a rating of frontal and profile nasolabial esthetic outcomes by 6 judges involved in the Americleft Project's intercenter outcome comparisons...
September 12, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28906140/evaluation-of-maxillary-central-incisors-on-the-noncleft-and-cleft-sides-in-patients-with-unilateral-cleft-lip-and-palate-part-2-relationship-between-root-resorption-horizontal-tooth-movement-and-quantity-of-grafted-autogenous-bone
#10
Aya Maeda-Iino, Minami Furukawa, Sangho Kwon, Kanako Marutani, Shoko Nakagawa, Takao Fuchigami, Norifumi Nakamura, Shouichi Miyawaki
OBJECTIVE: To evaluate the relationship between external apical root resorption (EARR) of the maxillary central incisors (U1), horizontal orthodontic tooth movement, and quantity of grafted bone in subjects with unilateral cleft lip and palate (UCLP) over an average duration of 8 years. MATERIALS AND METHODS: Thirty subjects with UCLP were evaluated for EARR of U1 after edgewise treatment (T2). The teeth were classified as having no EARR, moderate EARR (combined into "no/moderate" EARR), or severe EARR...
September 14, 2017: Angle Orthodontist
https://www.readbyqxmd.com/read/28906139/evaluation-of-maxillary-central-incisors-on-the-noncleft-and-cleft-sides-in-patients-with-unilateral-cleft-lip-and-palate-part-1-relationship-between-root-length-and-orthodontic-tooth-movement
#11
Aya Maeda-Iino, Kanako Marutani, Minami Furukawa, Shoko Nakagawa, Sangho Kwon, Toshiro Kibe, Masahiro Tezuka, Norifumi Nakamura, Shouichi Miyawaki
OBJECTIVES: To measure the root lengths of maxillary central incisors (U1) and evaluate the relationship among U1 root length, tooth movement, and type of treatment appliance in patients with unilateral cleft lip and palate over a long-term follow-up period. MATERIALS AND METHODS: Occlusal radiographs of 30 patients with unilateral cleft lip and palate, acquired less than 6 months before secondary alveolar bone grafting (SBG, T1) and after edgewise treatment (T2), were measured for U1 root length (R1 and R2, root lengths at T1 and T2, respectively)...
September 14, 2017: Angle Orthodontist
https://www.readbyqxmd.com/read/28905882/identification-of-causative-variants-in-txnl4a-in-burn-mckeown-syndrome-and-isolated-choanal-atresia
#12
Jacqueline A C Goos, Sigrid M A Swagemakers, Stephen R F Twigg, Marieke F van Dooren, A Jeannette M Hoogeboom, Christian Beetz, Sven Günther, Frank J Magielsen, Charlotte W Ockeloen, Maria A Ramos-Arroyo, Rolph Pfundt, Helger G Yntema, Peter J van der Spek, Philip Stanier, Dagmar Wieczorek, Andrew O M Wilkie, Ans M W van den Ouweland, Irene M J Mathijssen, Jane A Hurst
Burn-McKeown syndrome (BMKS) is a rare syndrome characterized by choanal atresia, prominent ears, abnormalities of the outer third of the lower eyelid, structural cardiac abnormalities, conductive and sensorineural hearing loss, and cleft lip. Recently, causative compound heterozygous variants were identified in TXNL4A. We analyzed an individual with clinical features of BMKS and her parents by whole-genome sequencing and identified compound heterozygous variants in TXNL4A (a novel splice site variant (c.258-2A>G, (p...
October 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28902248/facial-profile-esthetics-in-operated-children-with-bilateral-cleft-lip-and-palate
#13
Rita de Cássia Moura Carvalho Lauris, Leopoldino Capelozza, Louise Resti Calil, José Roberto Pereira Lauris, Guilherme Janson, Daniela Gamba Garib
Objective: The aim of this study was to evaluate the facial profile esthetics of rehabilitated children with complete bilateral cleft lip and palate (BCLP), comparing the judgment of professionals related and not related to cleft rehabilitation and laypersons. Methods: Thirty children in the mixed dentition (24 male; 6 female) with a mean age of 7.8 years were evaluated using facial profile photographs by 25 examiners: 5 orthodontists and 5 plastic surgeons with experience in cleft care, 5 orthodontists and 5 plastic surgeons without experience in oral cleft rehabilitation and 5 graduated laymen...
July 2017: Dental Press Journal of Orthodontics
https://www.readbyqxmd.com/read/28901389/analysis-of-dermal-fibroblasts-isolated-from-neonatal-and-child-cleft-lip-and-adult-skin-developmental-implications-on-reconstructive-surgery
#14
Veronika Živicová, Lukáš Lacina, Rosana Mateu, Karel Smetana, Radana Kavková, Eliška Drobná Krejčí, Miloš Grim, Alena Kvasilová, Jiří Borský, Hynek Strnad, Miluše Hradilová, Jana Šáchová, Michal Kolář, Barbora Dvořánková
The nonsyndromic cleft is one of the most frequent congenital defects in humans. Clinical data demonstrated improved and almost scarless neonatal healing of reparative surgery. Based on our previous results on crosstalk between neonatal fibroblasts and adult keratinocytes, the present study focused on characterization of fibroblasts prepared from cleft lip tissue samples of neonates and older children, and compared them with samples isolated from normal adult skin (face and breast) and scars. Although subtle variances in expression profiles of children and neonates were observed, the two groups differed significantly from adult cells...
September 7, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28898113/interferon-regulatory-factor-6-is-necessary-for-salivary-glands-and-pancreas-development
#15
K A Metwalli, M A Do, K Nguyen, S Mallick, K Kin, N Farokhnia, G Jun, W D Fakhouri
Interferon regulatory factor 6 ( IRF6) acts as a tumor suppressor and controls cell differentiation in ectodermal and craniofacial tissues by regulating expression of target genes. Haploinsufficiency of IRF6 causes Van der Woude and popliteal pterygium syndrome, 2 syndromic forms of cleft lip and palate. Around 85% of patients with Van der Woude express pits on the lower lip that continuously or intermittently drain saliva, and patients with the common cleft lip and palate have a higher prevalence of dental caries and gingivitis...
September 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28895152/clinical-predictors-of-multiple-tympanostomy-tube-placements-in-ontario-children
#16
Jason A Beyea, Paul Nguyen, Stephen F Hall
OBJECTIVES: To characterize risk factors that predict the need for multiple tympanostomy tube (TT) procedures. STUDY DESIGN: Retrospective population-based cohort study of children aged 18 years and younger in Ontario, Canada, who underwent at least one TT placement between January 1, 1994, and October 31, 2013. METHODS: The relative risk (RR) of need for multiple TT procedures was determined using log-binomial regression. RESULTS: There were 193,880 children who underwent TT insertion included in this cohort...
September 12, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28893947/small-molecule-wnt-agonists-correct-cleft-palates-in-pax9-mutant-mice-in-utero
#17
Shihai Jia, Jing Zhou, Christopher Fanelli, Yinshen Wee, John Bonds, Pascal Schneider, Gabriele Mues, Rena N D'Souza
Clefts of the palate and/or lip are the most common among human craniofacial malformations and involve multiple genetic and environmental factors. Defects can only be corrected surgically and require complex life-long treatments. Our studies utilized the well-characterized Pax9(-/-) mouse model with a consistent cleft palate phenotype to test small-molecule Wnt agonist therapies. We first show that the absence of Pax9 alters the expression of Wnt pathway genes including Dkk1 and Dkk2, proven antagonists of Wnt signaling...
September 11, 2017: Development
https://www.readbyqxmd.com/read/28891899/does-a-premaxillary-setback-and-lip-adhesion-have-a-negative-impact-on-lip-outcome-in-bilateral-cleft-patients
#18
Cassio Eduardo Raposo-Amaral, Rafael Denadai, Ricardo Ruiz Garcia de Almeida, Frederico Figueiredo Marques, Marina De Martino Lee, Cesar Augusto Raposo-Amaral
BACKGROUND: The early premaxillary setback and lip adhesion remains as a controversial maneuver in the treatment of bilateral cleft lip and palate patients. This study aimed to assess extent of preoperative deformity and lip outcomes during the first year after surgery in bilateral cleft patients who underwent premaxillary setback and lip adhesion and to compare to those with primary lip repair. METHODS: A retrospective observational study was conducted of 16 nonsyndromic consecutive bilateral complete cleft lip patients (with and without Simonart band), who underwent primary cleft lip repair...
September 7, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28891896/examination-of-nasolacrimal-duct-morphometry-using-cone-beam-computed-tomography-in-patients-with-unilateral-cleft-lip-palate
#19
Oğuzhan Altun, Numan Dedeoğlu, Mehmet Avci
OBJECTIVE: The cleft lip/palate (CLP) deformity negatively affects the anatomy of the nasal cavity and maxilla. The effects of this deformity on the lacrimal system have been unidentified yet. This study aimed to evaluate the morphometric changes in the nasolacrimal duct using cone-beam computed tomography (CBCT) in patients with unilateral CLP. MATERIALS AND METHODS: Retrospective bilateral measurements of the narrowest transversal diameters and the lengths of the nasolacrimal ducts were made for the affected and unaffected sides of 28 patients with CLP and 28 control patients, using the CBCT images...
September 7, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28891894/dentoalveolar-effects-of-early-orthodontic-treatment-in-patients-with-cleft-lip-and-palate
#20
Diana Cassi, Alberto Di Blasio, Mauro Gandolfinini, Marisabel Magnifico, Francesca Pellegrino, Maria Grazia Piancino
No agreement exists on the most appropriate timing of orthodontic treatment in patients with cleft lip and palate. The aim of this study is to investigate the effect of early orthodontic treatment on development of the dental arches and alveolar bone.A dental casts analysis was performed on 28 children with cleft lip and palate before orthodontic treatment (T0; mean age, 6.5 ± 1.7) and at the end of active treatment (T1; mean age, 9.2 ± 2.1 years). The considered variables were: intercanine and intermolar distances; dental arch relationships, evaluated according to the modified Huddart/Bodenham system...
September 7, 2017: Journal of Craniofacial Surgery
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