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https://www.readbyqxmd.com/read/28350678/ocular-morbidity-in-the-correction-of-orbital-hypertelorism-and-dystopia-a-15-year-experience
#1
Graeme E Glass, Kate A V Hon, Kemmy Schweibert, Richard Bowman, Barry M Jones, David J Dunaway, Jonathan A Britto
BACKGROUND: Complex surgery for appearance change is controversial. Correction of orbital hypertelorism risks diplopia and loss of stereopsis for aesthetic gain. The risk-to-benefit ratio remains ill-defined. The aim of this study was to define specific ocular morbidity following orbital translocation. METHODS: The authors compared stable preoperative and postoperative orthoptic indices (i.e., angle of strabismus, ocular motility, and acuity) for 23 consecutive patients who underwent orbital translocation between 2000 and 2015 and noted the requirement for corrective surgery...
April 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28346501/a-tissue-specific-role-for-intraflagellar-transport-genes-during-craniofacial-development
#2
Elizabeth N Schock, Jaime N Struve, Ching-Fang Chang, Trevor J Williams, John Snedeker, Aria C Attia, Rolf W Stottmann, Samantha A Brugmann
Primary cilia are nearly ubiquitous, cellular projections that function to transduce molecular signals during development. Loss of functional primary cilia has a particularly profound effect on the developing craniofacial complex, causing several anomalies including craniosynostosis, micrognathia, midfacial dysplasia, cleft lip/palate and oral/dental defects. Development of the craniofacial complex is an intricate process that requires interactions between several different tissues including neural crest cells, neuroectoderm and surface ectoderm...
2017: PloS One
https://www.readbyqxmd.com/read/28332242/bilateral-oblique-facial-clefts-rudimentary-eyes-and-hydrocephalus-in-an-aborted-equine-foetus
#3
J S Agerholm, H G Pedersen, F J McEvoy, S Heegaard
Knowledge of congenital malformations and their causes in horses is generally sparse. Such conditions require more scientific attention to improve their diagnostics and inform prevention strategies. Here, a unique syndrome of bilateral oblique facial clefts (meloschisis), rudimentary eyes and hydrocephalus is reported in an equine foetus spontaneously aborted at gestation day 224. The cause of abortion was considered to be intrauterine death caused by umbilical cord torsions and subsequent compromised blood flow, but the aetiology of the malformation could not be determined...
March 22, 2017: Reproduction in Domestic Animals, Zuchthygiene
https://www.readbyqxmd.com/read/28326341/cdc42-is-crucial-for-facial-and-palatal-formation-during-craniofacial-development
#4
Mutsuko Oshima-Nakayama, Atsushi Yamada, Tamaki Kurosawa, Ryo Aizawa, Dai Suzuki, Yoshiro Saito, Hidetoshi Kassai, Yuki Sato, Matsuo Yamamoto, Tatsuo Shirota, Atsu Aiba, Koutaro Maki, Ryutaro Kamijo
Craniofacial deformities with multifactorial etiologies, such as cleft palate and facial dysmorphism, represent some of the most frequent congenital birth defects seen in humans. Their pathogeneses are often related to cranial neural crest (CNC) cells. During CNC cell migration, changes in cell shape and formation, as well as maintenance of subcellular structures, such as filopodia and lamellipodia, are dependent on the complex functions of Rho family small GTPases, which are regulators of actin cytoskeletal organization...
December 2016: Bone Reports
https://www.readbyqxmd.com/read/28319315/maxillofacial-features-and-systemic-malformations-in-expanded-spectrum-hemifacial-microsomia
#5
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/28301481/colec10-is-mutated-in-3mc-patients-and-regulates-early-craniofacial-development
#6
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/28299270/6-0-nylon-versus-6-0-vicryl-rapide-in-chieloplasty
#7
J K Dayashankara Rao, Payal Luthra, Varun Arya, Vijay Siwach, Anil K Sheorain, Megha Gupta
CONTEXT: Facial cosmetic result is one of the most concerning issues for the parents who get their children operated for cleft lip. Moreover, the discomfort associated with the suture removal encourages one to use any new technology that may replace the need for suture placement. The type of suture material used in surgery has been a long-standing debate among surgeons. In this study, we compared rapidly absorbable suture material (Vicryl Rapide™) with nonabsorbable suture material (nylon)...
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
#8
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/28296336/a-comprehensive-study-of-palate-development-in-miniature-pig
#9
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/28289871/digitalized-analysis-of-philtral-anatomy-for-planning-individual-treatment
#10
Hassan Bagheri, Suzan Sirinturk, Figen Govsa, Yelda Pinar, Mehmet Asim Ozer
OBJECTIVE: Restoration of the philtral region following traumatic, cleft, and tumor surgeries is often difficult due to influence of this feature to whole facial beauty. The aim of this study is to investigate the types and measurements of the philtrum and its relationship with the upper lip using a software. METHODS: Standard personal photographs of the philtral region were obtained from 200 young adults participated in this study. Linear analyses (the lengths of philtral column and dimple; the philtral width) and angular analyses (apex and central angles of Cupid's bow) were measured as reference points...
March 13, 2017: Surgical and Radiologic Anatomy: SRA
https://www.readbyqxmd.com/read/28287290/prenatal-ultrasound-diagnosis-of-tessier-number-7-cleft-case-report-and-review-of-the-literature
#11
João Cavaco-Gomes, Carla Duarte, Elsa Pereira, Alexandra Matias, Nuno Montenegro, Eberhard Merz
Lateral or transverse facial clefts are the most frequent of the atypical facial clefts, classified by Tessier as no. 7 clefts. Most of the cases are diagnosed at birth, while few cases are diagnosed prenatally. We report a case of prenatal ultrasound detection and three-dimensional characterisation of a lateral facial cleft at 21 weeks of gestation, which was terminated at 22 weeks. It was a transverse cleft, running through the left cheek towards the ear, along with micrognathia and mild polyhydramnios. We also present a review on classification, anatomical features and prenatal diagnosis of Tessier no...
March 13, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28285730/new-in-vivo-model-to-analyse-the-expression-of-angiogenic-genes-in-the-borders-of-a-cleft-lip
#12
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/28277486/adult-quality-of-life-postcleft-palate-repair-a-comparison-of-two-techniques
#13
Rachel Skladman, Lynn Marty Grames, Gary Skolnick, Dennis C Nguyen, Sybill D Naidoo, Kamlesh B Patel, Jeffrey L Marsh, Albert S Woo
BACKGROUND AND PURPOSE: In 1989, the Cleft Palate-Craniofacial Journal published the first randomized prospective cleft surgery study, comparing the Kriens intravelar veloplasty (IVV) with a non-IVV 2-flap repair. Results in that and follow-up publications yielded no difference between the 2 groups for need for secondary velopharyngeal management. The subjects have now reached adulthood. This study was designed to ask: Is there any difference between the groups in the outcomes that multidisciplinary team care addresses: speech intelligibility, facial growth, breathing while awake and asleep, attainment of education, and long-term socioeconomic status? METHODS: Enrollees from the original published study were invited to participate in a survey...
March 8, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28274007/facial-dysmorphism-an-unreported-teratogenicity-with-levetiracetam
#14
Jyotsana Gupta, Sandhya Jain, Shalini Rajaram, Neerja Goel, Bindiya Gupta
Levetiracetam (LEV) is a relatively newer anticonvulsant drug used to treat epilepsy and is approved by United States Food and Drugs Administration (USFDA). The drug binds to a synaptic vesicle glycoprotein and inhibits presynaptic calcium channels, thus reducing neurotransmitter release. Commonly reported side effects include drowsiness, weakness, unsteady gait, mood changes and loss of appetite. Like most other antiepileptics, it is a Category C drug in pregnancy. We report the first case of facial dysmorphism in the neonate of a mother taking LEV antenatally...
January 2017: Journal of Clinical and Diagnostic Research: JCDR
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
#15
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/28251593/frontonasal-dysplasia-oral-features-restorative-and-orthodontic-dental-treatment-in-a-child
#16
R A Valério, C Scatena, F R R Santos, F L Romano, A M Queiroz, F W G Paula-Silva
BACKGROUND: Frontonasal dysplasia is a complex rare malformation, characterised by abnormalities involving the central portion of the face, especially the eyes, nose and forehead. It can manifest independently or associated with other abnormalities as part of some syndromes. CASE REPORT: The purpose of this case report was to describe a 5-year-old patient, diagnosed with frontonasal dysplasia. Among the abnormalities characterised with this disorder were ocular hypertelorism, broad nose tip with median notch, median facial cleft, bifid anterior skull, low set hairline, Poland's syndactyly and ankyloglossia...
March 1, 2017: European Archives of Paediatric Dentistry: Official Journal of the European Academy of Paediatric Dentistry
https://www.readbyqxmd.com/read/28239591/role-of-ct-mastoids-in-the-diagnosis-and-surgical-management-of-chronic-inflammatory-ear-diseases
#17
Juveria Majeed, L Sudarshan Reddy
Chronic Suppurative Otitis Media (CSOM) is a chronic inflammation of middle ear cleft. It presents with discharging ear and decreased hearing. The diagnosis is mostly on clinical examination with otoscope or oto endoscope. Computerised Tomography (CT) of mastoids is done to evaluate the extent of the disease and its complication. High resolution CT is now the investigation of choice for temporal bone disease. This study emphasizes on the importance of CT scan in diagnosis of inflammatory ear diseases and most importantly identifying pitfalls or complications which a surgeon can come across during surgery...
March 2017: Indian Journal of Otolaryngology and Head and Neck Surgery
https://www.readbyqxmd.com/read/28238558/a-novel-computer-system-for-the-evaluation-of-nasolabial-morphology-symmetry-and-aesthetics-after-cleft-lip-and-palate-treatment-part-1-general-concept-and-validation
#18
Piotr Pietruski, Marcin Majak, Tomasz Debski, Boguslaw Antoszewski
PURPOSE: The need for a widely accepted method suitable for a multicentre quantitative evaluation of facial aesthetics after surgical treatment of cleft lip and palate (CLP) has been emphasized for years. The aim of this study was to validate a novel computer system 'Analyse It Doc' (A.I.D.) as a tool for objective anthropometric analysis of the nasolabial region. MATERIALS AND METHODS: An indirect anthropometric analysis of facial photographs was conducted with the A...
February 1, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28238296/pyriform-aperture-enlargement-in-all-aspects
#19
E Esen, N Bayar Muluk, N Altintoprak, K Ipci, C Cingi
BACKGROUND: The pyriform aperture comprises the central area of facial bone structure. It is formed by the free corners of the nasal bone and the frontal processes of the maxillae, which articulate with each other at the nasomaxillary suture lines. Congenital nasal pyriform aperture stenosis might be linked to various craniofacial problems. This review presents all aspects of pyriform aperture stenosis and enlargement. METHODS: A literature search was conducted...
February 27, 2017: Journal of Laryngology and Otology
https://www.readbyqxmd.com/read/28236507/cephalometric-comparison-of-early-and-late-secondary-bone-grafting-in-the-treatment-of-patients-suffering-from-unilateral-cleft-lip-and-palate
#20
Andrzej Brudnicki, Ewa Sawicka, Renata Brudnicka, Piotr Stanisław Fudalej
The study was based on a retrospective cephalometric assessment of 10-year-olds in order to evaluate the influence of early secondary bone grafting on craniofacial development in patients suffering from non-syndromic complete unilateral cleft lip and palate. The study consisted of 79 patients in the early and 67 patients in the late secondary bone grafting group. The mean age at alveolar bone grafting was 2.5 years (SD 0.03) in the first group and 9.8 years (SD 2.3) in the second group. The primary cleft repair of these 146 patients was always performed in accordance with the one-stage method...
January 25, 2017: Journal of Cranio-maxillo-facial Surgery
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