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https://www.readbyqxmd.com/read/28727040/genome-wide-association-studies-and-meta-analysis-reveal-novel-quantitative-trait-loci-and-pleiotropic-loci-for-swine-head-related-traits
#1
H Chen, T Huang, Z Zhang, B Yang, C Jiang, J Wu, Z Zhou, H Zheng, W Xin, M Huang, M Zhang, C Chen, J Ren, H Ai, L Huang
The pig is an important domestic animal that provides a larger amount of meat and serves as a biomedical animal model for human. Head and facial features are closely linked to identity recognition in mammal communication. To uncover the genetic architecture of swine head and facial features, we constructed 5 experimental pig populations and accurately measured 10 traits related to head and facial features, for which genome-wide association studies and meta-analysis were later carried out. As a result, we identified a total of 24 loci harboring 437 SNP on 8 swine chromosomes (SSC) that surpassed suggestively significant levels, of which 17 loci on 6 chromosomes exceeded the 5% genome-wide significance thresholds...
June 2017: Journal of Animal Science
https://www.readbyqxmd.com/read/28713737/maxillary-distraction-osteogenesis-in-unilateral-cleft-lip-and-palate-patients-with-rigid-external-distraction-system
#2
Shadi Alkhouri, Peter D Waite, Matthew B Davis, Ejvis Lamani, Chung How Kau
AIM: Distraction osteogenesis (DO) is a treatment option for patients with maxillary hypoplasia secondary to cleft lip and palate (CLP). PURPOSE: The aim of this study is to present a technique for maxillary DO using Le Fort I osteotomy with rigid external distraction (RED) system. SUBJECTS AND METHODS: The patient presented in this paper was an Asian female with CLP aged 13 years and 6 months. She presented with severe midfacial deficiency with a Class III dental malocclusion with a negative overjet and concave facial profile...
January 2017: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/28711741/confirmation-that-mutations-in-ddx59-cause-an-autosomal-recessive-form-of-oral-facial-digital-syndrome-further-delineation-of-the-ddx59-phenotype-in-two-new-families
#3
Sara Faily, Rahat Perveen, Jill Urquhart, Kate Chandler, Jill Clayton-Smith
We report three probands from two unrelated consanguineous families of South Asian origin who all carry the same rare novel homozygous variant within the dead box helicase gene DDX59 in association with features of oral-facial-digital syndrome (OFDS). DDX59 variants have been reported previously in an unclassified, autosomal recessive form of OFDS; clinically associated with features including tongue lobulation, cleft palate, frontal bossing, hypertelorism and postaxial polydactyly. All three probands had lobulated tongues with tongue hamartomas, abnormal tongue tip, developmental delay and microcephaly, with just one proband demonstrating polydactlyly...
July 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28697314/grainyhead-like-transcription-factors-in-craniofacial-development
#4
M R Carpinelli, M E de Vries, S M Jane, S Dworkin
Craniofacial development in vertebrates involves the coordinated growth, migration, and fusion of several facial prominences during embryogenesis, processes governed by strict genetic and molecular controls. A failure in any of the precise spatiotemporal sequences of events leading to prominence fusion often leads to anomalous facial, skull, and jaw formation-conditions termed craniofacial defects (CFDs). Affecting approximately 0.1% to 0.3% of live births, CFDs are a highly heterogeneous class of developmental anomalies, which are often underpinned by genetic mutations...
July 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28687524/pierpont-syndrome-associated-with-the-p-tyr446cys-missense-mutation-in-tbl1xr1
#5
Anne Slavotinek, Heather Pua, Ugur Hodoglugil, Jude Abadie, Joseph Shieh, Jessica Van Ziffle, Mark Kvale, Hane Lee, Pui-Yan Kwok, Neil Risch, Marta Sabbadini
We present a 7-year old male with severe delays, hypotonia and dysmorphic features who had striking, deep palmar and plantar creases and pillowing of the soft tissues of the palms and soles. His facial features included a high anterior hairline, small eyes with narrowed palpebral fissures, a bulbous nasal tip with a short columella, and a large mouth with a thin upper vermilion, and small chin. He had a submucous cleft palate, bilateral cryptorchidism and hydronephrosis. Cranial imaging demonstrated an Arnold Chiari malformation that was also present in his maternal uncle by report...
July 4, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28686747/functional-analysis-of-the-zebrafish-ortholog-of-hmgcs1-reveals-independent-functions-for-cholesterol-and-isoprenoids-in-craniofacial-development
#6
Anita M Quintana, Jose A Hernandez, Cesar G Gonzalez
There are 8 different human syndromes caused by mutations in the cholesterol synthesis pathway. A subset of these disorders such as Smith-Lemli-Opitz disorder, are associated with facial dysmorphia. However, the molecular and cellular mechanisms underlying such facial deficits are not fully understood, primarily because of the diverse functions associated with the cholesterol synthesis pathway. Recent evidence has demonstrated that mutation of the zebrafish ortholog of HMGCR results in orofacial clefts. Here we sought to expand upon these data, by deciphering the cholesterol dependent functions of the cholesterol synthesis pathway from the cholesterol independent functions...
2017: PloS One
https://www.readbyqxmd.com/read/28680871/the-effect-of-happiness-training-based-on-fordyce-model-on-perceived-stress-in-the-mothers-of-children-with-cleft-lip-and-palate
#7
Zeinab Hemati, Samira Abbasi, Somayeh Paki, Davood Kiani
Introduction: A child afflicted with facial deformities such as cleft lip and palate usually affects their parents, because of difficulties in nutrition, speech, aesthetics and social connections, and also imposing a lot of stress on them. The aim of this study was to investigate the effects of a happiness program on the perceived stress in the mothers of children with cleft lip and palate. Methods: This study was a quasi-experimental study in which 64 mothers of children with cleft lip and palate were divided by simple random sampling into intervention and control groups (n=64)...
June 2017: Journal of Caring Sciences
https://www.readbyqxmd.com/read/28672934/first-branchial-cleft-anomalies-in-children-experience-with-30-cases
#8
Wanpeng Li, Liming Zhao, Hongming Xu, Xiaoyan Li
First branchial cleft anomalies (FBCA) are rare in the clinical setting, as they account for 1 to 8% of all branchial abnormalities. The purpose of this study is to explore the relationship between the fistula tract and facial nerve and the surgical method of FBCA. This retrospective study included 30 cases of FBCA in children managed from 2009 to 2016. All patients underwent surgery to remove the tract of the FBCA. We reviewed the clinical data of the patients to obtain their demographics and management. Thirty patients (11 male and 19 female) with anomalies of FBCA were diagnosed...
July 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28661083/centre-level-variation-in-behaviour-and-the-predictors-of-behaviour-in-5-year-old-children-with-non-syndromic-unilateral-cleft-lip-the-cleft-care-uk-study-part-5
#9
A Waylen, O Mahmoud, A K Wills, D Sell, J R Sandy, A R Ness
OBJECTIVES: The aims of this study were to describe child behavioural and psychosocial outcomes associated with appearance and speech in the Cleft Care UK (CCUK) study. We also wanted to explore centre-level variation in child outcomes and investigate individual predictors of such outcomes. SETTING AND SAMPLE POPULATION: Two hundred and sixty-eight five-year-old children with non-syndromic unilateral cleft lip and palate (UCLP) recruited to CCUK. MATERIALS AND METHODS: Parents completed the Strengths and Difficulties questionnaire (SDQ) and reported their own perceptions of the child's self-confidence...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28661082/centre-level-variation-of-treatment-and-outcome-in-5-year-old-children-with-non-syndromic-unilateral-cleft-lip-and-palate-the-cleft-care-uk-study-part-1-methodology-and%C3%A2-results-for-dento-facial-outcomes
#10
A K Wills, O Mahmoud, A Hall, D Sell, J Smallridge, L Southby, S Toms, A Waylen, Y Wren, A R Ness, J R Sandy
OBJECTIVES: Outline methods used to describe centre-level variation in treatment and outcome in children in the Cleft Care UK (CCUK) study. Report centre-level variation in dento-facial outcomes. SETTING AND SAMPLE POPULATION: Two hundred and sixty-eight five-year-old British children with non-syndromic unilateral cleft lip and palate (UCLP). MATERIALS AND METHODS: Between January 2011 and December 2012, data were collected on a comprehensive range of outcomes...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28661081/centre-level-variation-in-treatment-and-outcomes-and-predictors-of-outcomes-in-5-year-old-children-with-non-syndromic-unilateral-cleft-lip-treated-within-a-centralized-service-the-cleft-care-uk-study-part-6-summary-and-implications
#11
A R Ness, A K Wills, O Mahmoud, A Hall, D Sell, J Smallridge, L Southby, D Stokes, S Toms, A Waylen, Y Wren, J R Sandy
OBJECTIVES: To summarize and discuss centre-level variation across a range of treatment and outcome measures and examine individual and ecological determinants of outcome in children in Cleft Care UK (CCUK). SETTING AND SAMPLE POPULATION: Two hundred and sixty-eight 5-year-old British children with non-syndromic unilateral cleft lip and palate (UCLP) recruited to CCUK and treated within a centralized service. MATERIALS AND METHODS: Children had a range of treatment and outcome measures collected at a 5-year audit clinic...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28634783/the-treatment-for-the-first-branchial-cleft-anomalies-in-children
#12
Wei Liu, Min Chen, Jinsheng Hao, Yang Yang, Jie Zhang, Xin Ni
The objective of this study is to make a clinical analysis for first branchial cleft anomalies (FBCAs), especially introduce the relationship between the Type I/II FBCA with the facial nerve and to demonstrate the importance of using intraoperative microscope and facial nerve monitoring. This is a retrospective review of patients with FBCAs treated in Beijing Children's Hospital, from Jan 2013 to Dec 2015. Clinical data of patients, including sex, age, chief complains, history of surgery, incision and drainage, the relationship with the facial nerve, pre and post-operative facial paralysis, recurrent rate and complications were recorded...
June 20, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/28626639/a-non-mosaic-porcn-mutation-in-a-male-with-severe-congenital-anomalies-overlapping-focal-dermal-hypoplasia
#13
Simran Madan, Wei Liu, James T Lu, V Reid Sutton, Bryant Toth, Priscilla Joe, John R Waterson, Richard A Gibbs, Ignatia B Van den Veyver, Edward J Lammer, Philippe M Campeau, Brendan H Lee
Mutations in the PORCN gene cause the X-linked dominant condition focal dermal hypoplasia (FDH). Features of FDH include striated pigmentation of the skin, ocular and skeletal malformations. FDH is generally associated with in utero lethality in non-mosaic males and most of the currently reported male patients show mosaicism due to de novo post-zygotic mutations in the PORCN gene. There is only one previous report of a surviving male with an inherited mutation in the PORCN gene. Here, we report two male siblings with multiple malformations including skeletal, ocular and renal defects overlapping with FDH...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28606330/recognition-of-children-on-age-different-images-facial-morphology-and-age-stable-features
#14
Zuzana Caplova, Valentina Compassi, Silvio Giancola, Daniele M Gibelli, Zuzana Obertov√°, Pasquale Poppa, Remo Sala, Chiarella Sforza, Cristina Cattaneo
The situation of missing children is one of the most emotional social issues worldwide. The search for and identification of missing children is often hampered, among others, by the fact that the facial morphology of long-term missing children changes as they grow. Nowadays, the wide coverage by surveillance systems potentially provides image material for comparisons with images of missing children that may facilitate identification. The aim of study was to identify whether facial features are stable in time and can be utilized for facial recognition by comparing facial images of children at different ages as well as to test the possible use of moles in recognition...
July 2017: Science & Justice: Journal of the Forensic Science Society
https://www.readbyqxmd.com/read/28604150/breastfeeding-after-early-repair-of-cleft-lip-in-newborns-with-cleft-lip-or-cleft-lip-and-palate-in-a-baby-friendly-designated-hospital
#15
Iva Burianova, Katarina Kulihova, Veronika Vitkova, Jan Janota
BACKGROUND: Goals of treatment of orofacial cleft are to improve feeding, speech, hearing, and facial appearance. Early surgery brings faster healing, better cosmetic effect, and fewer complications. Breastfeeding rates after early surgery are unknown. Early repair of the cleft lip may influence breastfeeding rates. Research aim: The aim of this study was to evaluate breastfeeding after early repair of the cleft lip in a Baby-Friendly designated hospital. The rate of breastfeeding in newborns with cleft lip was compared to cleft lip and palate...
August 2017: Journal of Human Lactation: Official Journal of International Lactation Consultant Association
https://www.readbyqxmd.com/read/28602382/value-in-oral-and-maxillofacial-surgery-a-systematic-review-of-economic-analyses
#16
Benjamin P Geisler, Yisi D Ji, Zachary S Peacock
PURPOSE: The purpose of this study is to describe the state of economic analyses in the field of oral and maxillofacial surgery (OMS). MATERIALS AND METHODS: A systematic search of published literature up to 2016 was performed. The inclusion criteria were as follows: English-language articles on economic analyses pertaining to OMS including anesthesia and pain management; dentoalveolar surgery; orthognathic, cleft, and/or obstructive sleep apnea treatment; pathology; reconstruction; temporomandibular disorders; trauma; and other...
May 18, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28591521/changes-in-face-specific-neural-processing-explain-reduced-cuteness-and-approachability-of-infants-with-cleft-lip
#17
Renske Huffmeijer, Janna Eilander, Viara R Mileva-Seitz, Ralph C A Rippe
The current study investigated whether changes in the neural processing of faces of infants with a facial abnormality - a cleft lip - mediate effects of the cleft lip on judgments of infant cuteness and approachability. Event-related potentials (ERPs) in response to pictures of faces of healthy infants and infants with a cleft lip, and ratings of cuteness and approachability of these infant faces, were obtained from 30 females. Infants with a cleft lip were rated as less attractive (less cute and approachable) than healthy infants, and both the N170 and P2 components of the ERP were of reduced amplitude in response to pictures of infants with a cleft lip...
June 18, 2017: Social Neuroscience
https://www.readbyqxmd.com/read/28582959/supernumerary-nostril-two-years-follow-up
#18
Amir Labib, Ahmed Elshahat
Supernumerary nostril is a very rare congenital anomaly of the nose. Since the first patient reported by Lindsay in 1906, few number of patients were reported in the literature. Various types had been described with different surgical modalities for correction. It can be isolated or associated with other malformations such as facial cleft, esophageal atresia, and imperforate anus. Most of the patients are unilateral, but it may be bilateral. It may have a communication with a normal nasal cavity or not.In this study, the authors present a case of a 1-year-old male with a positive perinatal history of teratogen exposure had isolated supernumerary left nostril with communication to the nasal cavity...
June 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28573092/current-methods-for-the-treatment-of-alveolar-cleft
#19
REVIEW
Nak Heon Kang
Alveolar cleft is a tornado-shaped bone defect in the maxillary arch. The treatment goals for alveolar cleft are stabilization and provision of bone continuity to the maxillary arch, permitting support for tooth eruption, eliminating oronasal fistulas, providing an improved esthetic result, and improving speech. Treatment protocols vary in terms of the operative time, surgical techniques, and graft materials. Early approaches including boneless bone grafting (gingivoperiosteoplasty) and primary bone graft fell into disfavor because they impaired facial growth, and they remain controversial...
May 2017: Archives of Plastic Surgery
https://www.readbyqxmd.com/read/28570403/nasolabial-growth-in-individuals-with-unilateral-cleft-lip-and-palate-a-preliminary-study-of-longitudinal-observation-using-three-dimensional-stereophotogrammetry
#20
Omar Alazzawi, Daichi Morioka, Mai Miyabe, Yasusoshi Tosa, Fumio Ohkubo, Shinya Yoshimoto
There are limited numbers of studies comparing the preoperative and postoperative facial features of infants with unilateral cleft lip and palate (UCLP) using three-dimensional (3D) stereophotogrammetry. The authors attempted an anthropometric analysis of nasolabial asymmetry 1 year after primary lip repair using a handheld 3D imaging system. Five different nasolabial dimensions in 24 infants with UCLP were measured using 3D images captured during primary lip repair and again, 1 year after the repair. The nasal and upper-lip elements of the cleft side were significantly changed after primary lip repair, and nasolabial asymmetry was anthropometrically improved...
May 31, 2017: Journal of Craniofacial Surgery
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