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https://www.readbyqxmd.com/read/28932054/darier-disease-a-rare-genodermatosis
#1
Hema Suryawanshi, Akshay Dhobley, Aparna Sharma, Pramod Kumar
Darier disease (DD), also known as keratosis follicularis or dyskeratosis follicularis, is a rare autosomal dominant genodermatosis with high penetrance and variable expressivity. It is caused by mutations of ATP2A2 gene which encodes the sarco/endoplasmic reticulum Ca(2+) ATPase isoform 2. It is clinically manifested by hyperkeratotic papules primarily affecting seborrheic areas on the head, neck and thorax, with less frequent involvement of the oral mucosa. When oral manifestations are present, they primarily affect the palatal and alveolar mucosa, are usually asymptomatic and are discovered in routine dental examination...
May 2017: Journal of Oral and Maxillofacial Pathology: JOMFP
https://www.readbyqxmd.com/read/28928994/foxe1-mutation-screening-in-a-case-with-cleft-lip-hypothyroidism-and-thyroid-carcinoma-a-new-syndrome
#2
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/28927774/chronic-intestinal-pseudo-obstruction-in-a-child-with-treacher-collins-syndrome
#3
E Giabicani, J Lemale, L Dainese, S Boudjemaa, A Coulomb, P Tounian, B Dubern
BACKGROUND: Treacher Collins syndrome (TCS) mainly presents with severe craniofacial developmental abnormalities characterized by a combination of bilateral downward-slanting palpebral fissures, colobomas of the lower eyelids, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. It is due to mutations in Treacher Collins syndrome 1 (TCOF1) (5q32-q33.1) and Polymerase RNA 1 polypeptides D and C (POLR1D [13q12...
September 15, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28926572/automatic-initial-and-final-segmentation-in-cleft-palate-speech-of-mandarin-speakers
#4
Ling He, Yin Liu, Heng Yin, Junpeng Zhang, Jing Zhang, Jiang Zhang
The speech unit segmentation is an important pre-processing step in the analysis of cleft palate speech. In Mandarin, one syllable is composed of two parts: initial and final. In cleft palate speech, the resonance disorders occur at the finals and the voiced initials, while the articulation disorders occur at the unvoiced initials. Thus, the initials and finals are the minimum speech units, which could reflect the characteristics of cleft palate speech disorders. In this work, an automatic initial/final segmentation method is proposed...
2017: PloS One
https://www.readbyqxmd.com/read/28926086/common-variants-in-dlg1-locus-are-associated-with-non-syndromic-cleft-lip-with-or-without-cleft-palate
#5
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
#6
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
#7
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
#8
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/28913309/2017-spring-update-a-letter-from-the-president-of-the-korean-cleft-palate-craniofacial-association
#9
Chullhoon Chung
No abstract text is available yet for this article.
March 2017: Arch Craniofac Surg
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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/28898263/genome-wide-analysis-of-parent-of-origin-interaction-effects-with-environmental-exposure-pooxe-an-application-to-european-and-asian-cleft-palate-trios
#16
Øystein A Haaland, Astanand Jugessur, Miriam Gjerdevik, Julia Romanowska, Min Shi, Terri H Beaty, Mary L Marazita, Jeffrey C Murray, Allen J Wilcox, Rolv T Lie, Håkon K Gjessing
Cleft palate only is a common birth defect with high heritability. Only a small fraction of this heritability is explained by the genetic variants identified so far, underscoring the need to investigate other disease mechanisms, such as gene-environment (GxE) interactions and parent-of-origin (PoO) effects. Furthermore, PoO effects may vary across exposure levels (PoOxE effects). Such variation is the focus of this study. We upgraded the R-package Haplin to enable direct tests of PoOxE effects at the genome-wide level...
2017: PloS One
https://www.readbyqxmd.com/read/28898253/engineering-human-cell-spheroids-to-model-embryonic-tissue-fusion-in-vitro
#17
David G Belair, Cynthia J Wolf, Carmen Wood, Hongzu Ren, Rachel Grindstaff, William Padgett, Adam Swank, Denise MacMillan, Anna Fisher, Witold Winnik, Barbara D Abbott
Epithelial-mesenchymal interactions drive embryonic fusion events during development, and perturbations of these interactions can result in birth defects. Cleft palate and neural tube defects can result from genetic defects or environmental exposures during development, yet very little is known about the effect of chemical exposures on fusion events during human development because of a lack of relevant and robust human in vitro assays of developmental fusion behavior. Given the etiology and prevalence of cleft palate and the relatively simple architecture and composition of the embryonic palate, we sought to develop a three-dimensional culture system that mimics the embryonic palate and could be used to study fusion behavior in vitro using human cells...
2017: PloS One
https://www.readbyqxmd.com/read/28898113/interferon-regulatory-factor-6-is-necessary-for-salivary-glands-and-pancreas-development
#18
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
#19
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
#20
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
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