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https://www.readbyqxmd.com/read/29044489/molecular-analysis-and-genotype-phenotype-correlation-of-diamond-blackfan-anemia
#1
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
#2
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/29042946/the-effects-of-y-shaped-conchal-cartilage-transplantation-on-the-correction-of-nasal-deformity-secondary-to-cleft-lip-and-its-influence-on-mental-health
#3
Ling Liu, Wei Wang, Lin Yang, Hongchuang Zhang
Patients who undergo corrective surgery for cleft lip are known to be at risk for subsequently developing secondary nasal deformity. The aim of this study was to investigate the effects of Y-shaped conchal cartilage transplantation on the correction of nasal deformity secondary to cleft lip and its influence on mental health. Sixteen patients with nasal deformity secondary to cleft lip admitted to The First People's Hospital Xuzhou (Xuzhou, China) from February 2014 to February 2015 were selected for the study...
October 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29042924/inhibition-of-periderm-removal-in-all-trans-retinoic-acid-induced-cleft-palate-in-mice
#4
Ya-Dong Zhang, Shi-Yi Dong, Hong-Zhang Huang
Cleft palate is a common craniofacial birth defect. The aim of the present study was to investigate the effect of excess all-trans retinoic acid (atRA) on periderm removal and the disappearance of basal medial edge epithelial (MEE) cells during palatogenesis, particularly during the stage prior to contact. atRA (200 mg/kg) was administered to C57BL/6N mice at embryonic day (E) 12.0 by gavage. Fetal palates were processed and analyzed by histology and electron microscopy. Single palate shelf peridermal cells were removed and cultured in the presence of atRA (3 µM) only or in the presence of or the caspase inhibitor, Z-VAD (100 µM) only, for 48 h...
October 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29037922/oral-vitamin-b1-substitution-does-not-decrease-genetically-determined-cleft-rate-in-mice-a-wysn
#5
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/29037560/application-of-non-invasive-prenatal-testing-in-late-gestation-in-a-pregnancy-associated-with-intrauterine-growth-restriction-and-trisomy-22-confined-placental-mosaicism
#6
Chih-Ping Chen, Chris Tsai, Ming-Huei Lin, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Wen-Lin Chen, Chen-Wen Pan, Wayseen Wang
OBJECTIVE: We present the application of non-invasive prenatal testing (NIPT) in late gestation in a pregnancy associated with intrauterine growth restriction (IUGR) and trisomy 22 confined placental mosaicism (CPM). CASE REPORT: A 35-year-old pregnant woman underwent chorionic villus sampling (CVS) at 12 weeks of gestation. The pregnancy was conceived by in vitro fertilization and intracytoplasmic sperm injection. CVS revealed a karyotype of 47,XY,+22 in all of 15 cultured chorionic villi cells...
October 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29037558/monozygotic-twins-discordant-for-trisomy-21-discussion-of-etiological-events-involved
#7
Yao-Lung Chang, Wu-Pei Yi, An-Shine Chao, Kuan-Ju Chen, Po-Jen Cheng, Tzu-Hao Wang, Shuenn-Dyh Chang
OBJECTIVE: To elucidate the etiologies of discordant trisomy 21 in monozygotic twin pregnancy. CASE REPORT: A monochorionic diamniotic twin pregnancy with hydrops and cleft lip (twin 1) found in one fetus presented at gestational age of 17 weeks. Amniotic fluid karyotyping showed nonmosaic trisomy 21 in twin 1 (47, XY, +21 [20]) and a normal karyotype in twin 2 (46, XY [20]). Short tandem repeat (STR) polymorphism markers revealed that the two fetuses were monozygotic, and the two chromosomes 21 were maternal isodisomy in the trisomy fetus...
October 2017: Taiwanese Journal of Obstetrics & Gynecology
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
#8
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
#9
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/29032918/adults-with-22q11-2-deletion-syndrome-have-a-different-velopharyngeal-anatomy-with-predisposition-to-velopharyngeal-insufficiency
#10
Charles Filip, Davide Impieri, Ingegerd Aagenæs, Corstiaan Breugem, Hans Erik Høgevold, Tone Særvold, Ragnhild Aukner, Kari Lima, Kim Tønseth, Tore G Abrahamsen
AIM: To find out if subjects with 22q11.2 deletion syndrome (DS) have a different velopharyngeal anatomy which could cause velopharyngeal insufficiency (VPI). METHODS: A prospective study of 16 subjects >16 years of age with 22q11.2 DS, without overt cleft palate and without previous VPI surgery, and 48 healthy controls >18 years of age were included in the study. Speech was recorded and scored blindly by two independent senior speech therapists. All 64 individuals had MRI scans, which were analyzed blindly by a consultant radiologist...
September 22, 2017: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
https://www.readbyqxmd.com/read/29031574/a-new-all-purpose-bilateral-cleft-lip-repair-bilateral-cheiloplasty-suitable-for-most-conditions
#11
Rong-Min Baek, Yujin Myung, Iehyon Park, Chang-Sik Pak, Baek-Kyu Kim, Vũ Ngọc Lâm, Jae Hoon Jeong
BACKGROUND: Only experienced surgeons can produce satisfactory results with most of the current surgical methods for bilateral cleft lip repair. The existing methods require not only preoperative orthodontic maneuvers but also accurate measurements for surgical design. We describe an easy-to-design and simple-to-execute general purpose surgical technique to repair most bilateral cleft lips. METHODS: A retrospective review was performed for the patients who underwent bilateral cleft lip repair using our novel method between 2003 and 2016...
September 25, 2017: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
https://www.readbyqxmd.com/read/29030958/association-of-meox2-polymorphism-with-nonsyndromic-cleft-palate-only-in-a-vietnamese-population
#12
Duy Le Tran, Hideto Imura, Akihiro Mori, Satoshi Suzuki, Teruyuki Niimi, Maya Ono, Chisato Sakuma, Shinichi Nakahara, Tham Thi Hong Nguyen, Phuong Thi Pham, Viet Hoang, Van Thi Tuyet Tran, Minh Duc Nguyen, Nagato Natsume
To evaluate the association between the single nucleotide polymorphism (SNP) rs227493 in the MEOX2 gene and nonsyndromic cleft palate only, this research was conducted as a case-control study by comparing a nonsyndromic cleft palate only group with an independent, healthy, and unaffected control group who were both examined by specialists. Based on clinical examination and medical records, we analyzed a total of 570 DNA samples, including 277 cases and 293 controls, which were extracted from dry blood spot samples collected from both the Odonto and Maxillofacial Hospital in Ho Chi Minh City and Nguyen Dinh Chieu Hospital in Ben Tre province respectively...
October 14, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/29028846/periodontal-indices-and-status-in-34-growing-patients-with-unilateral-cleft-lip-and-palate-a-split-mouth-study
#13
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
#14
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
#15
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
#16
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
#17
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/29023340/associations-between-disinfection-by-product-exposures-and-craniofacial-birth-defects
#18
John A Kaufman, J Michael Wright, Amanda Evans, Zorimar Rivera-Núñez, Amy Meyer, Michael G Narotsky
OBJECTIVE: Examine associations between craniofacial birth defects (CFDs) and disinfection by-product (DBP) exposures, including the sum of four trihalomethanes (THM4) and five haloacetic acids (HAA5) (i.e., DBP9). METHODS: We calculated first trimester adjusted odds ratios (aORs) for different DBPs in a matched case-control study of 366 CFD cases in Massachusetts towns with complete 1999-2004 THM and HAA data. RESULTS: We detected elevated aORs for cleft palate with DBP9 (highest quintile aOR = 3...
October 11, 2017: Journal of Occupational and Environmental Medicine
https://www.readbyqxmd.com/read/29023294/cleft-lip-and-palate-demographic-patterns-and-the-associated-communication-disorders
#19
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/29023290/fascial-graft-repair-of-wide-bilateral-cleft-lip-deformity
#20
Husam Hosny, Ayman Husein Abdelsattar
Wide bilateral cleft lip deformity reconstruction represents a special difficulty as it affects the lip, nose, and maxillary segments making single-stage reconstruction sometimes unobtainable. Many surgical and nonsurgical techniques have been prescribed to facilitate the definitive repair. Although some of these techniques proved to be useful, they have their inherent limitations and add another treatment step with all its possible complications and costs. The authors present a new method to address muscle layer repair in 1-stage procedure...
October 11, 2017: Journal of Craniofacial Surgery
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