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https://www.readbyqxmd.com/read/28092164/comparing-modified-huddart-bodenham-scoring-system-and-goslon-yardstick-to-assess-dental-arch-relationships-in-unilateral-cleft-lip-and-palate-patients
#1
Muhaini Yakob, H Yang Rafidah, M Gu, Y Yang
OBJECTIVE:   To test the reliability of the modified Huddart-Bodenham (MHB) numerical scoring system and its agreement with the GOSLON Yardstick categorization for assessing the dental arch relationships in unilateral cleft lip and palate (UCLP) cases. DESIGN:   A retrospective study. SETTING:   Faculty of Dentistry, The University of Hong Kong. PATIENTS:   Forty-one nonsyndromic UCLP consecutive patients attending the Joint Cleft Lip/Palate Clinic at Faculty of Dentistry in the University of Hong Kong were selected...
January 16, 2017: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/28088314/is-advanced-paternal-age-a-health-risk-for-the-offspring
#2
REVIEW
Anne-Marie Nybo Andersen, Stine Kjaer Urhoj
In this article we review the epidemiologic evidence for adverse health effects in offspring of fathers of advanced age. First the evidence regarding fetal survival is addressed, and afterward we review the evidence regarding morbidity in children with older fathers. The adverse conditions most consistently associated with increased paternal age are stillbirths, musculo-skeletal syndromes, cleft palate, acute lymphoblastic leukemia and retinoblastoma, and neurodevelopmental disorders in the autism spectrum and schizophrenia...
January 11, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28087736/imputation-of-orofacial-clefting-data-identifies-novel-risk-loci-and-sheds-light-on-the-genetic-background-of-cleft-lip-%C3%A2-cleft-palate-and-cleft-palate-only
#3
Kerstin U Ludwig, Anne C Böhmer, John Bowes, Miloš Nikolić, Nina Ishorst, Niki Wyatt, Nigel L Hammond, Lina Gölz, Frederic Thieme, Sandra Barth, Hannah Schuenke, Johanna Klamt, Malte Spielmann, Khalid Aldhorae, Augusto Rojas-Martinez, Markus M Nöthen, Alvaro Rada-Iglesias, Michael J Dixon, Michael Knapp, Elisabeth Mangold
Nonsyndromic cleft lip with or without cleft palate (nsCL/P) is among the most common human birth defects with multifactorial etiology. Here, we present results from a genome-wide imputation study of nsCL/P in which, after adding replication cohort data, four novel risk loci for nsCL/P are identified (at chromosomal regions 2p21, 14q22, 15q24 and 19p13). On a systematic level, we show that the association signals within this high-density dataset are enriched in functionally-relevant genomic regions that are active in both human neural crest cells (hNCC) and mouse embryonic craniofacial tissue...
January 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28086763/the-prevalence-and-factors-associated-with-malnutrition-among-infants-with-cleft-palate-and-or-lip-at-a-hospital-in-uganda-a-cross-sectional-study
#4
Martin Tungotyo, Daniel Atwine, Deborah Nanjebe, Andrew Hodges, Martin Situma
BACKGROUND: To determine the prevalence and factors associated with malnutrition among infants with Cleft palate and/or cleft lip (CP+/-L) at Comprehensive Rehabilitation for Uganda Hospital (CoRSU) in Uganda. METHODS: This was a cross-sectional study done on infants with CP+/-L and their caretakers admitted between November 2013 and October 2014 at CoRSU hospital which was the study setting. A questionnaire was answered by the infants' caretakers. The main outcome measure, malnutrition was defined and classified based on Z-scores obtained using the W...
January 13, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28081210/mutations-in-hyal2-encoding-hyaluronidase-2-cause-a-syndrome-of-orofacial-clefting-and-cor-triatriatum-sinister-in-humans-and-mice
#5
Martina M A Muggenthaler, Biswajit Chowdhury, S Naimul Hasan, Harold E Cross, Brian Mark, Gaurav V Harlalka, Michael A Patton, Miho Ishida, Elijah R Behr, Sanjay Sharma, Kenneth Zahka, Eissa Faqeih, Brian Blakley, Mike Jackson, Melissa Lees, Vernon Dolinsky, Leroy Cross, Philip Stanier, Claire Salter, Emma L Baple, Fowzan S Alkuraya, Andrew H Crosby, Barbara Triggs-Raine, Barry A Chioza
Orofacial clefting is amongst the most common of birth defects, with both genetic and environmental components. Although numerous studies have been undertaken to investigate the complexities of the genetic etiology of this heterogeneous condition, this factor remains incompletely understood. Here, we describe mutations in the HYAL2 gene as a cause of syndromic orofacial clefting. HYAL2, encoding hyaluronidase 2, degrades extracellular hyaluronan, a critical component of the developing heart and palatal shelf matrix...
January 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28077415/international-multiphase-mixed-methods-study-protocol-to-develop-a-cross-cultural-patient-reported-outcome-instrument-for-children-and-young-adults-with-cleft-lip-and-or-palate-cleft-q
#6
Karen W Y Wong Riff, Elena Tsangaris, Tim Goodacre, Christopher R Forrest, Andrea L Pusic, Stefan J Cano, Anne F Klassen
INTRODUCTION: Patient-reported outcome (PRO) instruments should be developed according to rigorous guidelines in order to provide clinically meaningful, scientifically sound measurement. Understanding the methodology behind instrument development informs the selection of the most appropriate tool. This mixed methods protocol describes the development of an internationally applicable PRO instrument, the CLEFT-Q, for evaluating outcomes of treatment for cleft lip and/or palate (CL/P). METHODS AND ANALYSIS: The study includes three main phases that occur iteratively and interactively...
January 11, 2017: BMJ Open
https://www.readbyqxmd.com/read/28075445/a-clinical-and-molecular-analysis-of-a-patient-with-emanuel-syndrome
#7
Jin-Wen Luo, Huan Yang, Zhi-Ping Tan, Ming Tu, Hong Luo, Yi-Feng Yang, Li Xie
Emanuel syndrome (ES) is the most frequent type of recurrent non‑Robertsonian translocation that is characterized by numerous anomalies. Over 100 patients with ES have been described in the literature. The phenotype of this syndrome varies but often consists of facial dysmorphism, microcephaly, severe intellectual disability, developmental retardation, congenital heart disease and genital anomalies. The present study describes a 2‑year‑old boy with multiple malformations, including facial dysmorphism, severe intellectual disability, growth retardation, congenital heart disease, cleft lip and palate, genital malformation (micropenis), amblyopia, thymic dysplasia and hearing impairment...
January 5, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28073287/psychological-growth-and-well-being-in-individuals-born-with-cleft-an-application-of-self-determination-theory
#8
Aidan Searle, Patricia Neville, Andrea Waylen
OBJECTIVE: Many studies of individuals born with cleft lip and/or palate (CLP) address the psychological impact of CLP in terms of stigma and/or 'resilience'. The present study challenges the usefulness of resilience in CLP research with the application of self-determination theory (SDT). It is proposed that SDT can serve to better understand how individuals born with CLP can achieve psychological growth and well-being. DESIGN: Interviews were conducted with 15 individuals born with CLP in the UK...
January 10, 2017: Psychology & Health
https://www.readbyqxmd.com/read/28070244/assessment-of-fetus-during-second-trimester-ultrasonography-using-hdlive-software-what-is-its-real-application-in-the-obstetrics-clinical-practice
#9
Gabriele Tonni, Gianpaolo Grisolia, Eduardo Félix Santana, Edward Araujo Júnior
AIM: To show imaging results from application of four-dimensional (4D) ultrasound lightening technique (HDlive™) in clinical obstetrics practice. METHODS: Normal and abnormal fetuses at second and third trimester of pregnancy undergoing routine scan with 4D HDlive™ (5DUS) in the rendering mode are described. Realistic features of fetal structures were provided by 5DUS in the rendering mode. Normal anatomy as well as pathology like cleft lip, hypoplastic face, micrognathia, low-set ears, corpus callosum, arthrogryposis, aortic arch, left congenital diaphragmatic hernia are highlighted in this study...
December 28, 2016: World Journal of Radiology
https://www.readbyqxmd.com/read/28069795/intraflagellar-transport-88-ift88-is-crucial-for-craniofacial-development-in-mice-and-is-a-candidate-gene-for-human-cleft-lip-and-palate
#10
Hua Tian, Jifan Feng, Jingyuan Li, Thach-Vu Ho, Yuan Yuan, Yang Liu, Frederick Brindopke, Jane C Figueiredo, William Magee, Pedro A Sanchez-Lara, Yang Chai
Ciliopathies are pleiotropic human diseases resulting from defects of the primary cilium, and these patients often have cleft lip and palate. IFT88 is required for the assembly and function of the primary cilia, which mediate the activity of key developmental signaling pathways. Through whole exome sequencing of a family of three affected siblings with isolated cleft lip and palate, we discovered that they share a novel missense mutation in IFT88 (c.915G>C, p.E305D), suggesting this gene should be considered a candidate for isolated orofacial clefting...
January 9, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28067575/perceptual-judgments-of-resonance-nasal-airflow-understandability-and-acceptability-in-speakers-with-cleft-palate-ordinal-versus-visual-analogue-scaling
#11
Sarah Castick, Rachael-Anne Knight, Debbie Sell
OBJECTIVE:   To investigate the reliability of ordinal versus visual analogue scaling (VAS) ratings for perceptual judgments of nasal resonance, nasal airflow, understandability, and acceptability in speakers with cleft palate. DESIGN:   Within-subjects comparative study. SETTING:   Multisite. PARTICIPANTS:   Five specialist speech and language therapists from U.K. Regional Cleft Centres. OUTCOME MEASURES:   Participants rated 30 audio speech samples obtained from the Speech and Language Therapy archives of Great Ormond Street Hospital...
January 2017: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/28063153/volumetric-assessment-of-alveolar-clefts-a-literature-review
#12
REVIEW
João Batista Blessmann Weber, Luciane de Macedo Menezes, Fabiane Azeredo, Luciano Schwartz Lessa Filho
OBJECTIVE: To conduct a review of the literature on methods for volumetric assessment of alveolar clefts and ascertain which methods are most precise to guide future research. METHODS: The PubMed and MEDLINE databases were searched for English-language reports of clinical and in vitro studies with detailed descriptions of imaging modality, sample characteristics, and method for measurement of alveolar cleft volume. RESULTS: The search strategy yielded 34 articles, of which 14 were selected for in-depth analysis...
January 7, 2017: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/28060099/reflecting-on-a-foreign-body-of-the-hard-palate
#13
Joshua Halka, Xue Zhao, Steven J Kasten
Foreign bodies of the hard palate in infants are rare and are often misdiagnosed as tumors. To our knowledge there are no reports of foreign bodies of the hard palate presenting to plastic surgeons as a cleft palate. This article describes a patient with a foreign body of the hard palate in a 9-month-old boy misdiagnosed as a cleft palate. While similar patients have been reported in the literature of other specialties, no patients have been reported in the plastic surgery literature to our knowledge. It is important for the plastic surgeon to be aware of foreign bodies of the hard palate and to keep these on one's differential in order to deter the use of unnecessary tests and to decrease the risk of any harm...
January 5, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28060090/morphology-of-the-levator-veli-palatini-muscle-in-adults-with-repaired-cleft-palate
#14
Katelyn J Kotlarek, Jamie L Perry, Xiangming Fang
The purpose of this study was to examine differences in levator veli palatini (levator) morphology between adults with repaired cleft palate and adults with noncleft anatomy. Fifteen adult participants (10 with noncleft anatomy, 5 with repaired cleft palate) underwent 3-dimensional (3D) static magnetic resonance imaging (MRI). Image analyses included measures of total muscle volume and the circumference and diameter at 6 points along the length of the muscle. Differences between groups were analyzed using independent sample Mann-Whitney U tests (α < 0...
January 5, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28060087/analysis-of-postoperative-bleeding-after-posterior-pharyngeal-flap-pharyngoplasty
#15
Teng Wan, Guomin Wang, Yusheng Yang, Yang Chen, Yong Zhang, Yun Liang, Yilai Wu
The aim of this study was to analyze the location and cause of postoperative bleeding after posterior pharyngeal flap pharyngoplasty and to investigate the surgical techniques with the goal of treating the bleeding. The patients received posterior pharyngeal flap pharyngoplasty in the Cleft Lip and Palate Treatment and Research Center of Shanghai Jiaotong University School of Medicine from January 2003 to December 2014, and postoperative bleeding in the surgical area was retrospectively analyzed. According to the record of the exploration of hemostasis, the locations and causes of the bleeding were summarized...
January 5, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28059674/coronal-clival-cleft-in-charge-syndrome
#16
Eman Mahdi, Matthew T Whitehead
CHARGE syndrome is a genetic disorder with multi-systemic congenital anomalies, most commonly including coloboma, heart malformations, choanal atresia, developmental delay, and genital and ear anomalies. The diagnostic criteria for CHARGE syndrome has been refined over the years. However, there are limited reports describing skullbase and craniocervical junction abnormalities. These osseous malformations are often under recognized, especially on MRI. We report here a case of CHARGE syndrome with colobomas, cleft lip and palate, patent ductus arteriosus, undescended testes, and a coronal clival cleft which has not been previously depicted in CHARGE syndrome...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28054174/genome-wide-meta-analyses-of-nonsyndromic-orofacial-clefts-identify-novel-associations-between-foxe1-and-all-orofacial-clefts-and-tp63-and-cleft-lip-with-or-without-cleft-palate
#17
Elizabeth J Leslie, Jenna C Carlson, John R Shaffer, Azeez Butali, Carmen J Buxó, Eduardo E Castilla, Kaare Christensen, Fred W B Deleyiannis, L Leigh Field, Jacqueline T Hecht, Lina Moreno, Ieda M Orioli, Carmencita Padilla, Alexandre R Vieira, George L Wehby, Eleanor Feingold, Seth M Weinberg, Jeffrey C Murray, Terri H Beaty, Mary L Marazita
Nonsyndromic orofacial clefts (OFCs) are a heterogeneous group of common craniofacial birth defects with complex etiologies that include genetic and environmental risk factors. OFCs are commonly categorized as cleft lip with or without cleft palate (CL/P) and cleft palate alone (CP), which have historically been analyzed as distinct entities. Genes for both CL/P and CP have been identified via multiple genome-wide linkage and association studies (GWAS); however, altogether, known variants account for a minority of the estimated heritability in risk to these craniofacial birth defects...
January 4, 2017: Human Genetics
https://www.readbyqxmd.com/read/28053221/laterality-of-oral-clefts-and-academic-achievement
#18
Emily R Gallagher, Brent R Collett, Sheila Barron, Paul Romitti, Timothy Ansley, George L Wehby
BACKGROUND AND OBJECTIVES: Children with isolated oral clefts have lower academic performance when compared with unaffected peers, yet few studies have examined specific attributes of clefts that may modify this risk. Oral clefts have nonrandom laterality, with left-sided clefts being more common than right-sided clefts, a pattern that may be genetically or environmentally influenced. The objective of this study was to evaluate the association between cleft laterality and academic achievement in a population-based sample of children with and without isolated oral clefts...
January 4, 2017: Pediatrics
https://www.readbyqxmd.com/read/28050387/alobar-holoprosencephaly-associated-with-meningomyelocoele-and-omphalocoele-an-unusual-coexistence
#19
Tejaswini Priyadarshan Waghmare, Pragati Aditya Sathe, Naina Atul Goel, Bhuvaneshwari Mahendra Kandalkar
Holoprosencephaly is a rare congenital disorder which results from failure of cleavage or incomplete differentiation of the forebrain structures at various levels or to various degrees. Depending on the degree of involvement, it is classified into 4 types: Alobar, Semilobar, Lobar and Middle interhemispheric fusion variant. A male child was born to 28-year-old female at 34 weeks of gestation. The mother on antenatal follow-up was detected to have a fetus with multiple congenital anomalies on Ultrasonography (USG) done at 34weeks of gestation...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28050103/presurgical-nasoalveolar-moulding-a-boon-in-the-management-of-cleft-lip-and-palate
#20
Dinesh Chander Chaudhary, Rohit Sharma, Vineet Sharma, Simrat Kaur
No abstract text is available yet for this article.
December 2016: Medical Journal, Armed Forces India
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