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Cleft lip palate

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https://www.readbyqxmd.com/read/28944239/analysis-of-sequence-data-to-identify-potential-risk-variants-for-oral-clefts-in-multiplex-families
#1
Emily R Holzinger, Qing Li, Margaret M Parker, Jacqueline B Hetmanski, Mary L Marazita, Elisabeth Mangold, Kerstin U Ludwig, Margaret A Taub, Ferdouse Begum, Jeffrey C Murray, Hasan Albacha-Hejazi, Khalid Alqosayer, Giath Al-Souki, Abdullatiff Albasha Hejazi, Alan F Scott, Terri H Beaty, Joan E Bailey-Wilson
BACKGROUND: Nonsyndromic oral clefts are craniofacial malformations, which include cleft lip with or without cleft palate. The etiology for oral clefts is complex with both genetic and environmental factors contributing to risk. Previous genome-wide association (GWAS) studies have identified multiple loci with small effects; however, many causal variants remain elusive. METHODS: In this study, we address this by specifically looking for rare, potentially damaging variants in family-based data...
September 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28937909/the-effect-of-dynacleft%C3%A2-on-cleft-width-in-unilateral-cleft-lip-and-palate-patients
#2
LaQuia Vinson
OBJECTIVE: The specific aim of this retrospective cross-sectional study was to assess the efficacy of DynaCleft(®) as a method of presurgical orthopedics with infants with a unilateral cleft lip and cleft palate who used an oral obturator. STUDY DESIGN: Data was collected from 25 infants all of comparable age diagnosed with a unilateral complete cleft lip and palate. Eight patients used DynaCleft (®) and an obturator (Group Alpha) and seventeen patients only had an obturator (Group Beta)...
September 22, 2017: Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/28928994/foxe1-mutation-screening-in-a-case-with-cleft-lip-hypothyroidism-and-thyroid-carcinoma-a-new-syndrome
#3
Hugo Mendieta-Zerón, Angélica Jiménez-Rosales, Carlos Jhovani Pérez-Amado, Silvia Jiménez-Morales
A 26-year-old woman is referred to the Internal Medicine consultation due to increases in laboratory studies associated with Papillary Thyroid Carcinoma (PTC) that was confirmed by histopathological studies. Her clinical history revealed that, at 3 months of age, she was successfully treated with surgery for cleft lip (CL) and at the age of 24 years was diagnosed with hypothyroidism. Single nucleotide polymorphisms (SNPs) in FOXE1 and its promoter regions have been associated with various etiologies related to the thyroid, including orofacial clefting, specially cleft palate (CP) and CL, hypothyroidism (HT), and thyroid cancer...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28926086/common-variants-in-dlg1-locus-are-associated-with-non-syndromic-cleft-lip-with-or-without-cleft-palate
#4
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/28922239/cleft-lip-and-palate-an-experience-of-a-developing-center-in-egypt
#5
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
#6
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/28915117/molecular-genetic-and-clinical-delineation-of-22-patients-with-congenital-hypogonadotropic-hypogonadism
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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/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/28898113/interferon-regulatory-factor-6-is-necessary-for-salivary-glands-and-pancreas-development
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
https://www.readbyqxmd.com/read/28887848/a-numerical-classification-system-for-cleft-lip-and-palate-in-the-dog
#20
E Moura, C T Pimpão
An easy-to-use classification that enables an accurate record of canine cleft lip and palate is fundamental for effective communication between professionals and researchers and optimal use of published information. Here we present how a classification system for human cleft lip and palate can be used to register spontaneous cases in dogs, highlighting its advantages. This system is based on four topographic areas with a numerical representation of the severity of the cleft in each area. The use of spontaneous cases has the advantage of providing clefts that are naturally similar to their human counterparts for surgical, genetic and genomic studies and, furthermore, will reduce the need for experimental models of this condition...
September 9, 2017: Journal of Small Animal Practice
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