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https://www.readbyqxmd.com/read/28319315/maxillofacial-features-and-systemic-malformations-in-expanded-spectrum-hemifacial-microsomia
#1
Noah Cohen, Erica Cohen, Alberto Gaiero, Silvia Zecca, Graziella Fichera, Federica Baldi, Joseph Felix Giordanetto, Jacques Marie Mercier, Amnon Cohen
Hemifacial microsomia (HFM) is a rare, multisystemic congenital disease with estimated frequency of 1/26370 births in Europe. Most cases are sporadic and caused by unilateral abnormal morphogenesis of the first and second pharyngeal arches. The aim of this study is to define the types and frequency of maxillofacial and systemic malformations in HFM patients. This is a case series study of patients with HFM evaluated at a single institution. Data were acquired through history, physical examination, photographs, diagnostic radiology, and laboratory and analyzed by the FileMakerPro database on 95 patients (54F; 41M) of which 89 met the inclusion criteria...
March 20, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28317357/-study-on-postoperative-infusion-management-of-cleft-patients
#2
Chen Lixian, Gong Caixia, Wu Yuhong, Yang Luping, Zheng Qian, Shi Bing
OBJECTIVE: The study aims to investigate the correlation between total input for a period of 24 h and the daily physiological requirements to develop practical guidelines for postoperative infusion management of cleft patients. METHODS: Sixty-three cleft lip and palate patients under three years old who underwent surgery were included in the study. The amount of liquid taken orally as well as intravenous input were recorded for a period of 24 h and compared with the daily physiological requirements...
August 1, 2016: Hua Xi Kou Qiang Yi Xue za Zhi, Huaxi Kouqiang Yixue Zazhi, West China Journal of Stomatology
https://www.readbyqxmd.com/read/28317355/-three-dimensional-analysis-of-alveolar-changes-of-complete-unilateral-cleft-lip-patients-after-presurgical-nasoalveolar-molding-treatment
#3
Li Hongyi, Kuang Hai, Wang Xiaomeng, Li Dongshuang
OBJECTIVE: This study analyzed the alveolar changes of complete unilateral cleft lip (UCCL) patients after pre-surgical nasoalveolar molding (PNAM) treatment using a three-dimensional method. METHODS: Palate impressions of thirty UCCL patients who underwent PNAM treatment in the Affiliated Stomatology Hospital of Guangxi Medical University were taken pre- and post-PNAM. The plaster impressions were scanned using cone beam computed tomography (CBCT). The DICOM files were exported and 3D models reconstructed in Mimics 15...
August 1, 2016: Hua Xi Kou Qiang Yi Xue za Zhi, Huaxi Kouqiang Yixue Zazhi, West China Journal of Stomatology
https://www.readbyqxmd.com/read/28316913/a-review-of-seasonality-of-cleft-births-the-brazil-experience
#4
Sibele Nascimento de Aquino, Renato Assis Machado, Lívia Máris R Paranaíba, Daniella Reis B Martelli, Daniela Araújo Veloso Popoff, Mário Sérgio O Swerts, Hercílio Martelli-Júnior
AIMS: Evaluate the seasonal influence in nonsyndromic cleft lip and/or palate (NSCL/P) in Brazilian patients. METHODS: A case-control study, with 361 unrelated patients with NSCL/P and 481 healthy individuals, was done on a reference service for craniofacial deformities in Minas Gerais State, Brazil. Information was collected from clinical records considering gender, month of birth, as well as with the seasons. RESULTS: Nonparametric tests did not show a seasonal variation in month of birth and in seasons of year of NSCL/P compared to a control group (p = 0...
January 2017: Journal of Oral Biology and Craniofacial Research
https://www.readbyqxmd.com/read/28301481/colec10-is-mutated-in-3mc-patients-and-regulates-early-craniofacial-development
#5
Mustafa M Munye, Anna Diaz-Font, Louise Ocaka, Maiken L Henriksen, Melissa Lees, Angela Brady, Dagan Jenkins, Jenny Morton, Soren W Hansen, Chiara Bacchelli, Philip L Beales, Victor Hernandez-Hernandez
3MC syndrome is an autosomal recessive heterogeneous disorder with features linked to developmental abnormalities. The main features include facial dysmorphism, craniosynostosis and cleft lip/palate; skeletal structures derived from cranial neural crest cells (cNCC). We previously reported that lectin complement pathway genes COLEC11 and MASP1/3 are mutated in 3MC syndrome patients. Here we define a new gene, COLEC10, also mutated in 3MC families and present novel mutations in COLEC11 and MASP1/3 genes in a further five families...
March 16, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28301459/blepharocheilodontic-syndrome-is-a-cdh1-pathway-related-disorder-due-to-mutations-in-cdh1-and-ctnnd1
#6
Jamal Ghoumid, Morgane Stichelbout, Anne-Sophie Jourdain, Frederic Frenois, Sophie Lejeune-Dumoulin, Marie-Pierre Alex-Cordier, Marine Lebrun, Pierre Guerreschi, Veronique Duquennoy-Martinot, Matthieu Vinchon, Joel Ferri, Matthieu Jung, Serge Vicaire, Clemence Vanlerberghe, Fabienne Escande, Florence Petit, Sylvie Manouvrier-Hanu
PURPOSE: Blepharocheilodontic (BCD) syndrome is a rare autosomal dominant condition characterized by eyelid malformations, cleft lip/palate, and ectodermal dysplasia. The molecular basis of BCD syndrome remains unknown. METHODS: We recruited 11 patients from 8 families and performed exome sequencing for 5 families with de novo BCD syndrome cases and targeted Sanger sequencing in the 3 remaining families. RESULTS: We identified five CDH1 heterozygous missense mutations and three CTNND1 heterozygous truncating mutations leading to loss-of-function or haploinsufficiency...
March 16, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28301364/effect-of-surgeon-volume-and-craniofacial-fellowship-training-on-cleft-palate-complication-rates
#7
Anna R Schoenbrunner, Cecilia L Dalle Ore, Samuel Lance, Joyce McIntyre, Marilyn Jones, Amanda Gosman
BACKGROUND: Both the general and pediatric surgical literature have evidenced an inverse relationship between surgical case volume and complications. This study seeks to ascertain the relationship between case volume and fistula rates in cleft palate patients. We also seek to determine if craniofacial fellowship training impacts fistula rates. METHODS: Charts were reviewed at a multidisciplinary cleft center in San Diego, CA. We performed chart review on 207 nonsyndromic patients with cleft lip and palate who had surgery at our institution from 1988 to 2010...
March 16, 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28299266/three-dimensional-evaluation-of-surgical-techniques-in-neonates-with-orofacial-cleft
#8
Cleide Felício Carvalho Carrara, Eloá Cristina Passucci Ambrosio, Bianca Zeponi Fernandes Mello, Paula Karine Jorge, Simone Soares, Maria Aparecida Andrade Moreira Machado, Thais Marchini Oliveira
BACKGROUND: Individuals with cleft lip and palate have many anatomic and functional alterations compromising esthetics, hearing, speech, occlusion, and development/craniofacial growth. The rehabilitative treatment of these patients is very challenging and starts at birth aiming at the best treatment for all functional demands. This study aimed to evaluate the dimensional alterations of the dental arches of neonates with cleft lip and palate after two different primary surgical techniques...
July 2016: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/28299262/success-rate-in-implant-supported-overdenture-and-implant-supported-fixed-denture-in-cleft-lip-and-palate-patients
#9
Jaine Zanolla, Flávio Monteiro Amado, Willian Saranholi da Silva, Bruno Ayub, Ana Lúcia Pompéia Fraga de Almeida, Simone Soares
BACKGROUND: The prosthetic treatment in cleft patients is challenging. Based on this, the aim of this study was to evaluate the longevity of prosthetic rehabilitation treatment with implant-supported overdenture (IOD) and implant-supported fixed denture (IFD) in cleft lip and palate patients in a period of 22 years. MATERIALS AND METHODS: The medical records of 72 patients were analyzed (29 males and 43 females), and the survival rate of the implants was evaluated...
July 2016: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/28299257/cleft-lip-and-palate-parental-experiences-of-stigma-discrimination-and-social-structural-inequalities
#10
Wasiu Lanre Adeyemo, Olutayo James, Azeez Butali
BACKGROUND: Cleft lip and palate (CLP) are the most common craniofacial birth impairment and one of the most common congenital impairments in humans. Anecdotal evidence suggests that stigmatization, discrimination, and sociocultural inequalities are common "phenomenon" experienced by families of children with CLP in Nigeria. This study aimed to explore the stigmatization, discrimination, and sociocultural inequalities experiences of families with children born with CLP. MATERIALS AND METHODS: The study was carried out at the surgical outpatient cleft clinic of the Lagos University Teaching Hospital, Lagos, Nigeria...
July 2016: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/28296718/qualitative-methods-in-the-development-of-a-bilingual-and-bicultural-quality-of-life-outcomes-measure-for-pediatric-patients-with-craniofacial-conditions
#11
Viridiana Juarez Tapia, Julia Helene Drizin, Cecilia Dalle Ore, Marcelo Nieto, Yajahira Romero, Sandra Magallon, Rohith Nayak, Alicia Sigler, Vanessa Malcarne, Amanda Gosman
INTRODUCTION: Craniofacial surgeons treat patients with diverse craniofacial conditions (CFCs). Yet, little is known about the health-related quality of life (HRQoL) impact of diverse CFCs. Currently, there are no suitable instruments that measure the HRQoL of patients with diverse CFCs from the perspective of children and parents. The objective of this study was to develop the items and support the content validity of a comprehensive patient and parent-reported outcomes measure. METHODS: An iterative process consisting of a systematic literature review, expert opinion and in-depth interviews with patients and parents of patients with diverse CFCs was used...
March 14, 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28293528/intermediate-phenotype-between-adult-syndrome-and-eec-syndrome-caused-by-r243q-mutation-in-tp63
#12
Yuki Otsuki, Koichi Ueda, Chisei Satoh, Ryuta Maekawa, Koh-Ichiro Yoshiura, Sachiko Iseki
A patient who had ectrodactyly, dry skin, exfoliative dermatitis, and hypodontia with peg-shaped teeth, but not cleft lip and palate, is described. Ectrodactyly with a tooth anomaly is recognized in both acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome and ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome. These 2 syndromes are caused by heterozygous mutations in the transcriptional factor gene p63. Mutation analysis of p63 gene showed a heterozygous mutation c.728G>A, p.Arg243Gln (previously referred to as R204Q) in the patient, but not in his parents...
December 2016: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/28292342/a-comparison-of-mixed-dentition-dental-development-in-cleft-patients-treated-with-and-without-the-latham-type-appliance
#13
Jin Lin, Veerasathpurush Allareddy, Elizabeth Ross, Stephen Shusterman
PURPOSE: The purpose of this study was to retrospectively evaluate the Latham-type appliance's effect on the development and eruption of posterior teeth during the mixed dentition stage before palatal expansion and secondary alveolar bone graft(s). METHODS: The charts of complete cleft lip and palate (CLP) patients treated with and without the Latham-type appliance were screened using the following inclusion criteria: nonsyndromic; CLP; and available panoramic radiographs and clinical photographs in the mixed dentition prior to palatal expansion and secondary alveolar bone grafts...
January 15, 2017: Pediatric Dentistry
https://www.readbyqxmd.com/read/28292285/congenital-malformations-and-medical-conditions-associated-with-orofacial-clefts-in-children-in-burkina-faso
#14
Kisito Nagalo, Isso Ouédraogo, Jean-Martin Laberge, Louise Caouette-Laberge, Jean Turgeon
BACKGROUND: Orofacial clefts are usually isolated cases but can be associated with other congenital malformations that are either recognised or unrecognised syndromes. The reported prevalence and pattern of such associated malformations, however, vary among studies. OBJECTIVES: To assess the frequencies and aetiologies of congenital malformations and associated medical conditions in children with orofacial clefts in Burkina Faso (Western Africa). METHODS: A retrospective descriptive study was carried out at the El Fateh-Suka Clinic in Ouagadougou, Burkina Faso...
March 14, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28287101/identification-of-common-non-coding-variants-at-1p22-that-are-functional-for-non-syndromic-orofacial-clefting
#15
Huan Liu, Elizabeth J Leslie, Jenna C Carlson, Terri H Beaty, Mary L Marazita, Andrew C Lidral, Robert A Cornell
Genome-wide association studies (GWAS) do not distinguish between single nucleotide polymorphisms (SNPs) that are causal and those that are merely in linkage-disequilibrium with causal mutations. Here we describe a versatile, functional pipeline and apply it to SNPs at 1p22, a locus identified in several GWAS for non-syndromic cleft lip with or without cleft palate (NS CL/P). First we amplified DNA elements containing the ten most-highly risk-associated SNPs and tested their enhancer activity in vitro, identifying three SNPs with allele-dependent effects on such activity...
March 13, 2017: Nature Communications
https://www.readbyqxmd.com/read/28285730/new-in-vivo-model-to-analyse-the-expression-of-angiogenic-genes-in-the-borders-of-a-cleft-lip
#16
C François, M L Poli-Merol, C Tournois, P Cornillet-Lefebvre, T Guillard, Z Djerada, M Doco Fenzy, P Nguyen
Defects in the fusion of facial buds can result from an anomaly in tissue development or apoptosis, or both. Our working hypothesis was that anomalies in the development of tissues could be caused by a genetic angiogenic defect. Our main objective was to design a reproducible experimental model to study the expression of angiogenic genes in the borders of cleft lips with or without cleft palate. We therefore prospectively studied seven non-syndromic patients, three with a cleft lip (2 right, 1 left), and four with a cleft lip and palate (1 bilateral, 2 right, 1 left), with no CGH (comparative genomic hybridisation) array, who had primary operations to repair their clefts...
March 9, 2017: British Journal of Oral & Maxillofacial Surgery
https://www.readbyqxmd.com/read/28283342/long-term-follow-up-study-of-patients-with-a-unilateral-complete-cleft-of-lip-alveolus-and-palate-following-the-utrecht-treatment-protocol-dental-arch-relationships
#17
Isabelle Francisca Petronella Maria Kappen, Gerhard Koendert Pieter Bittermann, Dirk Bitterman, Aebele Barber Mink van der Molen, William Shaw, Corstiaan Cornelis Breugem
OBJECTIVE: This study sought to evaluate long-term dental arch relationships in adults with a unilateral complete cleft lip and palate (UCLP) treated by the Utrecht protocol and to compare results with the centers from the Eurocleft study. MATERIALS AND METHODS: Retrospective analysis of UCLP patients age 17 or older, treated by two-stage palate closure at the Wilhelmina Children's Hospital, a tertiary center for cleft surgery in Utrecht, the Netherlands. Patients were invited to the clinic for a long-term evaluation...
February 6, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28258919/a-novel-computer-system-for-the-evaluation-of-nasolabial-morphology-symmetry-and-aesthetics-after-cleft-lip-and-palate-treatment-part-2-comparative-anthropometric-analysis-of-patients-with-repaired-unilateral-complete-cleft-lip-and-palate-and-healthy-individuals
#18
Piotr Pietruski, Marcin Majak, Elzbieta Pawlowska, Adam Skiba, Boguslaw Antoszewski
PURPOSE: The aim of this study was to use a novel system, 'Analyse It Doc' (A.I.D.) for a complex anthropometric analysis of the nasolabial region in patients with repaired unilateral complete cleft lip and palate and in healthy individuals. MATERIALS AND METHODS: A set of standardized facial photographs in frontal, lateral and submental view have been taken in 50 non-cleft controls (mean age 20.6 years) and 42 patients with repaired unilateral complete cleft and palate (mean age 19...
January 31, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28253654/automatic-identification-of-hypernasality-in-normal-and-cleft-lip-and-palate-patients-with-acoustic-analysis-of-speech
#19
Marzieh Golabbakhsh, Fatemeh Abnavi, Mina Kadkhodaei Elyaderani, Fatemeh Derakhshandeh, Fatemeh Khanlar, Panying Rong, David P Kuehn
Hypernasality is seen in cleft lip and palate patients who had undergone repair surgery as a consequence of velopharyngeal insufficiency. Hypernasality has been studied by evaluation of perturbation, noise measures, and cepstral analysis of speech. In this study, feature extraction and analysis were performed during running speech using six different sentences. Jitter, shimmer, Mel frequency cepstral coefficients, bionic wavelet transform entropy, and bionic wavelet transform energy were calculated. Support vector machines were employed for classification of data to normal or hypernasal...
February 2017: Journal of the Acoustical Society of America
https://www.readbyqxmd.com/read/28253185/oral-health-considerations-in-a-patient-with-oligosymptomatic-ectrodactyly-ectodermal-dysplasia-cleft-syndrome
#20
Gaurav Sharma, Archna Nagpal
Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome-a complex, pleiotropic disorder resulting in multiple congenital anomalies-has an unpredictable clinical expression and is typically manifested as an autosomal-dominant trait. This article presents a rare case of oligosymptomatic EEC syndrome in a 19-year-old man who exhibited atypical dental findings but no cleft lip or palate. This article is intended to create awareness about this rare syndrome and highlight the role of oral healthcare specialists in improving the quality of life for patients with EEC...
March 2017: General Dentistry
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