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https://www.readbyqxmd.com/read/29053389/mrpl53-a-new-candidate-gene-for-orofacial-clefting-identified-using-an-eqtl-approach
#1
C Masotti, L A Brito, A C Nica, K U Ludwig, K Nunes, C P Savastano, C Malcher, S G Ferreira, G S Kobayashi, D F Bueno, N Alonso, D Franco, A Rojas-Martinez, S E Dos Santos, P A Galante, D Meyer, T Hünemeier, E Mangold, E T Dermitzakis, M R Passos-Bueno
A valuable approach to understand how individual and population genetic differences can predispose to disease is to assess the impact of genetic variants on cellular functions (e.g., gene expression) of cell and tissue types related to pathological states. To understand the genetic basis of nonsyndromic cleft lip with or without cleft palate (NSCL/P) susceptibility, a complex and highly prevalent congenital malformation, we searched for genetic variants with a regulatory role in a disease-related tissue, the lip muscle (orbicularis oris muscle [OOM]), of affected individuals...
October 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/29044489/molecular-analysis-and-genotype-phenotype-correlation-of-diamond-blackfan-anemia
#2
O A Arbiv, G Cuvelier, R J Klaassen, C V Fernandez, N Robitaille, M G Steele, V Breakey, S Abish, J Wu, R Sinha, M Silva, L Goodyear, L Jardine, J H Lipton, C Corriveau-Bourque, J Brossard, B Michon, I Ghemlas, N Waespe, B Zlateska, L Sung, M Cada, Y Dror
Diamond-Blackfan anemia (DBA) features hypoplastic anemia and congenital malformations, largely caused by mutations in various ribosomal proteins. The aim of this study was to characterize the spectrum of genetic lesions causing DBA and identify genotypes that correlate with phenotypes of clinical significance. Seventy-four patients with DBA from across Canada were included. Nucleotide-level mutations or large deletions were identified in 10 ribosomal genes in 45 cases. The RPS19 mutation group was associated with higher requirement for chronic treatment for anemia than other DBA groups...
October 16, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29043408/what-is-the-cost-of-free-cleft-surgery-in-the-middle-east
#3
Samar Sheriff, Hassan J Zawahrah, Lenisa V Chang, Sonay Beyatli, Haithem M Elhadi Babiker, Ashton L Roach, Natalyia Biskup, John A van Aalst
BACKGROUND: This project explores the costs of cleft lip and/or palate surgeries in Palestine and Sudan, two low- and middle-income countries (LMIC), in the Middle East. Our purpose is to examine the veracity of advertisements from international cleft organizations claiming that "250 US dollars (USD) covers the cost of a single cleft surgery." We hypothesize that the actual cost of surgery is greater than 250 USD. METHODS: Costs for each cleft surgery were organized broadly into 5 categories: hospital charges, personnel (time and money spent for health professionals to travel to LMIC, including lost wages), tests, consumables, and reusables...
October 17, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/29037922/oral-vitamin-b1-substitution-does-not-decrease-genetically-determined-cleft-rate-in-mice-a-wysn
#4
Konstanze Scheller, Florian Kalmring, Christian Scheller, Johannes Schubert, Joanna Bialek
PURPOSE: Cleft lip and palate (CL/P) are one of the most common human birth defects. Animal experiments and clinical investigations show a clear reduction of teratogenic clefts by a high-dose vitamin B supplementation during early pregnancy, especially in families at risk (reduction of recurrence). The aim of this work was to examine the influence of thiamine (vitamin B1) on CL/P appearance in genetically determined A/WySn mice within different supplementation starting points. MATERIALS AND METHODS: A total of 24 A/WySn female mice were orally supplemented with high doses (80 mg/kg) of thiamine at different times of pregnancy (5 groups, n = 90)...
June 23, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/29034883/establishment-of-a-congenital-tooth-agenesis-related-gene-msx1-knockout-human-embryonic-stem-cell-lines-by-crispr-cas9-technology
#5
Yanting Xue, Minghui Zhu, Dajiang Qin, Yongjin Li, Xiaotong Cen, Xiaofang Sun, Wenwei Lian, Baojian Liao
Human MSX1 gene is mapped to chromosome 4 and encodes a 303aa homeobox protein MSX1. MSX1 expression appears during early tooth development of vertebrate embryogenesis. Mutations in this protein are related to human tooth anomalie, cleft lip and palate and congenital ectodermal dysplasia syndrome. Most of the confirmed pathogenic mutations are located in exon2 encoded homeobox domain. Here, we report the establishment of MSX1 gene knockout human embryonic stem (hES) cell lines by CRISPR-Cas9 technology. These cell lines provide good materials for further studies of the roles MSX1 plays in human tooth development and congenital tooth agenesis...
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29034274/prevalence-and-characteristics-of-developmental-dental-anomalies-in-iranian-orofacial-cleft-patients
#6
Shabnam Ajami, Hamidreza Pakshir, Hedyeh Samady
STATEMENT OF THE PROBLEM: Individuals with oral clefts exhibit considerably more dental anomalies than individuals without clefts. These problems could initially be among the symptoms of their disease and/or they may be the side effect of their treatments. Pushback palatoplasty could cause some interference during the development of teeth and result in tooth defects. PURPOSE: The study was performed to assess the prevalence and characteristics of developmental dental anomalies in orofacial cleft patients who attended Shiraz Orthodontics Research Center-Cleft Lip and Palate Clinic...
September 2017: Journal of Dentistry
https://www.readbyqxmd.com/read/29028846/periodontal-indices-and-status-in-34-growing-patients-with-unilateral-cleft-lip-and-palate-a-split-mouth-study
#7
Paweł Plakwicz, Beata Wyrębek, Renata Górska, Dorota Cudziło
Periodontal examination in growing patients with unilateral cleft lip and palate was performed in a split-mouth study design. Higher plaque acumulation and bleeding indices were recorded for teeth on the cleft side. Pocket probing depth (PPD) and clinical attachment level (CAL) values were higher at lateral incisors and canines adjacent to the cleft. Keratinized gingiva and depth of the vestibule were lower adjacent to the cleft. This study shows that growing patients with clefts present differences regarding periodontal parameters between the cleft and the control side...
November 2017: International Journal of Periodontics & Restorative Dentistry
https://www.readbyqxmd.com/read/29026827/evaluation-of-secondary-and-late-secondary-alveolar-bone-grafting-on-66-unilateral-cleft-lip-and-palate-patients
#8
Ravi Mahajan, Harish Ghildiyal, Ankit Khasgiwala, Gogulnathan Muthukrishnan, Sukhdeep Kahlon
OBJECTIVE: The aim of this retrospective study was to evaluate the outcomes of secondary alveolar bone grafting and late secondary alveolar bone grafting in 66 unilateral cleft lip and palate patients. MATERIALS AND METHODS: The total patients were 66 unilateral cleft lip and palate patients, out of which 19 patients underwent secondary alveolar bone grafting and 47 patients underwent late secondary alveolar bone grafting. Autogenous anterior iliac crest cancellous bone graft was harvested and used for grafting the alveolar clefts...
August 2017: Plastic Surgery
https://www.readbyqxmd.com/read/29026807/airway-management-in-pierre-robin-sequence-the-vancouver-classification
#9
Wai-Yee Li, Alana Poon, Douglas Courtemanche, Cynthia Verchere, Sandra Robertson, Marija Bucevska, Claudia Malic, Jugpal S Arneja
BACKGROUND: Pierre Robin sequence (PRS) is a triad of micrognathia, glossoptosis, and respiratory distress. There is no standard clinical classification used in the management of neonatal airway in patients with PRS. The goal of our study was to review the presentation and management of patients with PRS and formulate a clinical grading system and treatment algorithm. METHODS: A 10-year retrospective review of all neonates diagnosed with PRS was performed after obtaining institutional ethics approval...
February 2017: Plastic Surgery
https://www.readbyqxmd.com/read/29026689/accurate-diagnosis-of-prenatal-cleft-lip-palate-by-understanding-the-embryology
#10
REVIEW
Bram Smarius, Charlotte Loozen, Wendy Manten, Mireille Bekker, Lou Pistorius, Corstiaan Breugem
Cleft lip with or without cleft palate (CP) is one of the most common congenital malformations. Ultrasonographers involved in the routine 20-wk ultrasound screening could encounter these malformations. The face and palate develop in a very characteristic way. For ultrasonographers involved in screening these patients it is crucial to have a thorough understanding of the embryology of the face. This could help them to make a more accurate diagnosis and save time during the ultrasound. Subsequently, the current postnatal classification will be discussed to facilitate the communication with the CP teams...
September 26, 2017: World Journal of Methodology
https://www.readbyqxmd.com/read/29024830/new-ocular-finding-in-baraitser-winter-syndrome
#11
Natalie Rall, Alejandro Leon, Ricardo Gomez, Jessica Daroca, Yves Lacassie
Baraitser-Winter syndrome was first described as a syndrome of mental retardation with bilateral ptosis, iris coloboma, widely spaced eyes, broad epicanthus, flattened nasal bridge, hypertelorism, and short stature (Baraitser and Winter, 1988; Baraitser-Winter- iris co, 2016). In a recent review of 42 cases, the phenotypic spectrum has broadened including high-arched eyebrows, short upturned nose tip, long philtrum, cleft lip and palate, abnormally shaped ears, deafness, congenital heart defects, microphthalmia, metopic ridge, microcephaly, pachygyria, progressive joint stiffness, epilepsy, syndactyly, and dystonia, among other less reported signs (Baraitser and Winter, 1988; Ganesh et al...
October 9, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29023294/cleft-lip-and-palate-demographic-patterns-and-the-associated-communication-disorders
#12
Firas S D Alfwaress, Fadwa A Khwaileh, Ma'amon A Rawashdeh, Mahmoud A Alomari, Mohammad S Nazzal
PURPOSE: This study investigated demographical characteristics, health status, and associated communication disorders in patients with orofacial clefts (OFCs) in Northern Jordan. METHODS: A retrospective study of 226 cleft patients and their families was carried out between March 2012 and September 2016 at the Speech and Hearing Clinic and the Maxillofacial Center at King Abdullah University Hospital. Data were collected by interviewing patients and caregivers, having patients or caregiver to complete a questionnaire and reviewing the patient's medical records...
October 11, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29017844/buccinator-myomucosal-flap-for-the-treatment-of-velopharyngeal-insufficiency-in-patients-with-cleft-palate-and-or-lip
#13
Rafael Denadai, Anelise Sabbag, Cassio Eduardo Raposo Amaral, João Carlos Pereira Filho, Mirian Hideko Nagae, Cesar Augusto Raposo Amaral
INTRODUCTION: The interpretation of the speech results obtained with the buccinator myomucosal flap in the treatment of velopharyngeal insufficiency in patients with cleft palate has been limited by the restriction in the number of patients and the time of postoperative follow-up. OBJECTIVE: To evaluate the effect of the buccinator myomucosal flap on speech hypernasality in the treatment of patients with cleft palate and velopharyngeal insufficiency. METHODS: Patients with repaired cleft palate (± lip) who were submitted to surgical correction of velopharyngeal insufficiency using the bilateral buccinator myomucosal flap were assessed...
September 12, 2017: Brazilian Journal of Otorhinolaryngology
https://www.readbyqxmd.com/read/29017114/association-between-the-irf6-rs2235371-polymorphism-and-the-risk-of-nonsyndromic-cleft-lip-with-or-without-cleft-palate-in-chinese-han-populations-a-meta-analysis
#14
REVIEW
Yinlan Xia, Bo Hu, Jin Chen, Leilei Zheng, Jinlin Song
OBJECTIVE: To investigate the association between the risk of nonsyndromic cleft lip with or without cleft palate (NSCL/P) and the IRF6 rs2235371 (C>T) polymorphism in Chinese Han populations. DESIGN: PubMed, Web of Science and EMBASE were searched through May 31, 2016, to select eligible studies. Pooled odds ratios (ORs) with 95% confidence intervals (95% CIs) were applied to estimate the risk of NSCL/P associated with the IRF6 rs2235371 polymorphism. Subgroup analyses were conducted according to NSCL/P types (CLO, CPO and CLP) and the geographical location (Northern China and Southern China)...
October 2, 2017: Archives of Oral Biology
https://www.readbyqxmd.com/read/29016629/three-dimensional-morphology-of-first-molars-in-relation-to-ethnicity-and-the-occurrence-of-cleft-lip-and-palate
#15
Sandra Echtermeyer, Philine H Metelmann, Alexander Hemprich, Karl-Heinz Dannhauer, Karl-Friedrich Krey
OBJECTIVES: This study aims to describe morphological peculiarities of maxillary and mandibular first molars in Europeans, Asians and Europeans with cleft lip and palate. MATERIAL AND METHODS: Reflex microscopy was used to obtain three-dimensional morphometric landmarks from 40 models (11 Europeans and 13 Asians without cleft lip and palate, 16 Europeans with unilateral cleft lip and palate). The cases were examined using traditional morphometry and geometric morphometry, and visualized using thin-plate splines...
2017: PloS One
https://www.readbyqxmd.com/read/28993061/risk-comparison-for-prenatal-use-of-analgesics-and-selected-birth-defects-national-birth-defects-prevention-study-1997-2011
#16
Julia D Interrante, Elizabeth C Ailes, Jennifer N Lind, Marlene Anderka, Marcia L Feldkamp, Martha M Werler, Lockwood G Taylor, James Trinidad, Suzanne M Gilboa, Cheryl S Broussard
PURPOSE: To compare the use of nonsteroidal anti-inflammatory drugs (NSAIDs) and/or opioids to the use of acetaminophen without NSAIDs or opioids with respect to associations with birth defects. METHODS: We used data from the National Birth Defects Prevention Study (1997-2011). Exposure was self-reported maternal analgesic use from the month before through the third month of pregnancy (periconceptional). Adjusted odds ratios (aORs) were calculated to examine associations with 16 birth defects...
September 20, 2017: Annals of Epidemiology
https://www.readbyqxmd.com/read/28977327/siblings-affected-by-ectrodactyly-ectodermal-dysplasia-and-cleft-lip-palate-eec-syndrome-presenting-normal-parents-germline-mosaicism
#17
Rafael Fabiano Machado Rosa, Samir Abou Ghaouche de Moraes, Leonardo Paludo Sulczinski, Filipe Augusto da Silva, Olga Gaio Milner, Silvana Rodrigues Streit Pires, Osvaldo Alfonso Pinto Artigalas, Rosana Cardoso Manique Rosa, Paulo Ricardo Gazzola Zen
OBJECTIVE: EEC is an acronym for an autosomal dominant syndrome clinically characterized by ectrodactyly (E), ectodermal dysplasia (E) and cleft lip/palate (C). Our aim was to describe a rare case of siblings affected by ectrodactyly, ectodermal dysplasia and cleft lip/palate (EEC) syndrome presenting normal parents. CASE DESCRIPTION: The patient was the third son of young and healthy parents. The parents did not present any minor or major anomaly of hands, feet or skin, hair and teeth...
April 2017: Revista Paulista de Pediatria: Orgão Oficial da Sociedade de Pediatria de São Paulo
https://www.readbyqxmd.com/read/28975726/muscle-fiber-diameter-assessment-in-cleft-lip-using-image-processing
#18
Mohammad Faisal Jamal Khan, Julian Little, Luigi Abelli, Peter Anthony Mossey, Luca Autelitano, Tapas Chandra Nag, Michele Rubini
OBJECTIVE: To pilot investigation of muscle fiber diameter (MFD) on medial and lateral sides of the cleft in 18 infants with cleft lip with or without cleft palate (CL/P) using image processing. MATERIAL AND METHODS: Formalin-fixed paraffin embedded (FFPE) tissue samples from the medial and lateral sides of the cleft were analyzed for MFD using an image processing program (ImageJ). For within-case comparison a paired student's test was performed. For comparisons between classes an unpaired t-test was used...
October 4, 2017: Oral Diseases
https://www.readbyqxmd.com/read/28967531/assessment-of-facial-asymmetry-before-and-after-the-surgical-repair-of-cleft-lip-in-unilateral-cleft-lip-and-palate-cases
#19
D Al-Rudainy, X Ju, F Mehendale, A Ayoub
This study was performed to assess facial asymmetry in patients with unilateral cleft lip and palate (UCLP) before and after primary lip repair. Three-dimensional facial images of 30 UCLP cases (mean age 3.7±0.8months) captured 1-2days before surgery and 4 months after surgery using stereophotogrammetry were analysed. A generic mesh - a mathematical facial mask consisting of thousands of points (vertices) - was conformed on the three-dimensional images. Average preoperative and postoperative conformed facial meshes were obtained and mirrored by reflecting on the lateral plane...
September 26, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28962933/a-high-proportion-of-children-with-unilateral-cleft-lip-and-palate-needed-complex-orthodontic-treatment-or-orthognathic-surgery
#20
Romina Brignardello-Petersen
No abstract text is available yet for this article.
September 23, 2017: Journal of the American Dental Association
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