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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/28318926/effectiveness-of-tranexamic-acid-for-reducing-intraoperative-bleeding-in-palatoplasties-a-randomized-clinical-trial
#2
Guilherme C Arantes, Rui Manoel R Pereira, Daniela B de Melo, Nivaldo Alonso, Maria do Carmo M B Duarte
BACKGROUND: Few data are available regarding blood loss during cleft palate surgery. This study assessed the effect of using tranexamic acid in the reduction of intraoperative bleeding. METHODS: A double-blind, randomized clinical trial compared intraoperative bleeding and the incidence of oronasal fistulas after palatoplasties in a control group that was given placebo and an intervention group that was given 10 mg/kg tranexamic acid followed by a continuous infusion of 1 mg/kg/h of the same until the end of surgery...
December 30, 2016: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28317357/-study-on-postoperative-infusion-management-of-cleft-patients
#3
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
#4
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
#5
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/28302228/anaesthetic-management-in-a-child-with-goldenhar-syndrome
#6
Waqas Ahmed Khan, Bushra Salim, Ausaf Ahmed Khan, Shakaib Chughtai
Goldenhar syndrome is a congenital disorder involving deformities of the face. It usually affects one side of the face only and poses significant challenges in the airway management. We herein, report an 8-year boy, known case of Goldenhar syndrome, who presented to our radiology suite for a magnetic resonance imaging (MRI) brain, followed by a computed tomography (CT) scan brain. The boy had various features of Goldenhar syndrome, e.g. cleft palate, absent right eye and ear, right mandibular hypoplasia, micrognathia, and preauricular tags...
March 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28301481/colec10-is-mutated-in-3mc-patients-and-regulates-early-craniofacial-development
#7
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
#8
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
#9
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/28299425/assessment-of-nasalance-and-nasality-in-patients-with-a-repaired-cleft-palate
#10
Klaus Sinko, Maike Gruber, Reinhold Jagsch, Imme Roesner, Arnulf Baumann, Arno Wutzl, Doris-Maria Denk-Linnert
In patients with a repaired cleft palate, nasality is typically diagnosed by speech language pathologists. In addition, there are various instruments to objectively diagnose nasalance. To explore the potential of nasalance measurements after cleft palate repair by NasalView(®), we correlated perceptual nasality and instrumentally measured nasalance of eight speech items and determined the relationship between sensitivity and specificity of the nasalance measures by receiver-operating characteristics (ROC) analyses and AUC (area under the curve) computation for each single test item and specific item groups...
March 15, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/28299266/three-dimensional-evaluation-of-surgical-techniques-in-neonates-with-orofacial-cleft
#11
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
#12
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
#13
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
#14
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/28296336/a-comprehensive-study-of-palate-development-in-miniature-pig
#15
Lindong Sun, Jiangyi Wang, Huina Liu, Zhipeng Fan, Songlin Wang, Juan Du
Palate development is an important morphogenetic event in facial development, including the fusion of the lateral and medial nasal portions of the frontonasal process and maxilla. Derailments of any of these events may result in cleft palate, the most frequent congenital craniofacial abnormality. Recent research has shown that the microanatomy of the miniature pig oral maxillofacial region is quite similar to that of humans, and the use of miniature pigs as a large animal model for dental and orofacial research is increasing...
March 15, 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/28293528/intermediate-phenotype-between-adult-syndrome-and-eec-syndrome-caused-by-r243q-mutation-in-tp63
#16
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/28292606/speech-language-and-reading-skills-in-10-year-old-children-with-palatal-clefts-the-impact-of-additional-conditions
#17
Kristin Billaud Feragen, Ragnhild Aukner, Tone K Særvold, Øydis Hide
BACKGROUND: This study examined speech (hypernasality and intelligibility), language, and reading skills in children with a cleft palate, specifically investigating additional conditions to the cleft, in order to differentiate challenges related to a cleft only, and challenges associated with an additional condition. DESIGN: Cross-sectional data collected during routine assessments of speech and language in a centralised treatment setting. PARTICIPANTS: Children born with cleft with palatal involvement from four birth cohorts (n=184), aged 10...
March 7, 2017: Journal of Communication Disorders
https://www.readbyqxmd.com/read/28292342/a-comparison-of-mixed-dentition-dental-development-in-cleft-patients-treated-with-and-without-the-latham-type-appliance
#18
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
#19
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/28288578/case-report-of-pierre-robin-sequence-with-severe-upper-airway-obstruction-who-was-rescued-by-fiberoptic-nasotracheal-intubation
#20
Satoru Takeshita, Hiroko Ueda, Tatenobu Goto, Daisuke Muto, Hiroki Kakita, Kazuo Oshima, Takahisa Tainaka, Takayuki Ono, Yoshiaki Kazaoka, Yasumasa Yamada
BACKGROUND: Pierre Robin sequence (PRS) refers to the association of micrognathia, glossoptosis, and airway obstruction. Cases with severe dyspnea due to upper airway obstruction immediately after birth are very rare. We here report two cases with PRS who developed severe dyspnea due to morphological abnormality immediately after birth and were rescued by fiberoptic nasotracheal intubation. CASE PRESENTATION: The patient in case 1 had micrognathia and cleft palate, and his tongue protruded into the nasal cavity via a cleft palate...
March 14, 2017: BMC Anesthesiology
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