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craniofacial cleft

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https://www.readbyqxmd.com/read/28806379/evaluation-of-protraction-face-mask-therapy-on-the-craniofacial-and-upper-airway-morphology-in-unilateral-cleft-lip-and-palate
#1
Defne Keçik
INTRODUCTION: The aim of the authors' study was to evaluate the effects of protraction face-mask therapy on the craniofacial and upper airway morphology in patients with unilateral cleft lip and palate (UCLP). METHODS: Twenty-three growing UCLP patients (mean age: 8.3 + 2.4) were enrolled in the study group. Protraction face-mask in combination with Hyrax appliance was applied for the correction of anterior crossbite and maxillary insufficiency. Twenty-six patients with maxillary retrusion (mean age: 8...
August 10, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28802359/transmission-analysis-of-tgfb1-gene-polymorphisms-in-non-syndromic-cleft-lip-with-or-without-cleft-palate
#2
Ginila T Raju, Bhaskar V K S Lakkakula, Jyotsna Murthy, Munirajan Arasambattu Kannan, Solomon F D Paul
OBJECTIVES: Transforming growth factor beta1 (TGF-β1) plays a significant role in craniofacial development. Previous linkage studies reported that the TGF-β1-locus at 19q13.1 harbour predisposing genes for non-syndromic oral clefts. In the present study case parents triads were evaluated to find the transmission effects of genetic variants in TGF- β1 towards non-syndromic cleft lip or palate (NSCL/P). METHODS: Using allelic discrimination method148 families (case-parent triads) were assessed for single nucleotide polymorphisms (SNPs) in TGF-β1 gene...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28796110/surgery-navigation-in-treating-congenital-midfacial-dysplasia-of-patients-with-facial-cleft
#3
Dong Li, Shanshan Bai, Zheyuan Yu, Liang Xu, Jie Yuan, Haisong Xu, Min Wei
AIM: To explore a new accurate way for the treatment of congenital midfacial dysplasia in facial cleft patients. MATERIALS AND METHODS: Between November 2015 and November 2016, 8 patients with nasal deformity and midfacial dysplasia (Tessier Nos. 3-11 cleft) were collected (median age, years; range = 15-20 years). Expanded frontal flap for nasal reconstruction and image-guided navigation-assisted surgery for modified nasal-maxillary-hard palatine osteotomy to advance the peri-pyriform bone structure were performed in all the patients...
August 8, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28795449/zebrafish-models-of-orofacial-clefts
#4
REVIEW
Kaylia Duncan, Kusumika Mukherjee, Robert A Cornell, Eric C Liao
Zebrafish is a model organism that affords experimental advantages toward investigating the normal function of genes associated with congenital birth defects. Here we summarize zebrafish studies of genes implicated in orofacial cleft (OFC). The most common use of zebrafish in this context has been to explore the normal function an OFC-associated gene product in craniofacial morphogenesis by inhibiting expression of its zebrafish ortholog. The most frequently deployed method has been to inject embryos with antisense morpholino oligonucleotides targeting the desired transcript...
August 10, 2017: Developmental Dynamics: An Official Publication of the American Association of Anatomists
https://www.readbyqxmd.com/read/28794913/wolf-hirschhorn-syndrome-clinical-and-genetic-data-from-a-first-case-diagnosed-in-central-africa
#5
Sébastien Mbuyi-Musanzayi, Aimé Lumaka, Toni Lubala Kasole, Erick Kasamba Ilunga, Bienvenu Yogolelo Asani, Prosper Lukusa Tshilobo, Prosper Kalenga Muenze, Hervé Reychler, François Tshilombo Katombe, Koenraad Devriendt
Wolf-Hirschhorn syndrome (WHS) is a multiple congenital anomaly-intellectual disability syndrome caused by a deletion involving chromosome 4p16.3. We report clinical and genetic findings of the first WHS patient diagnosed in central Africa. This boy who presented with cleft palate, microcephaly, severe growth delay, and intellectual disability was 12 years old. Typical craniofacial features were present, though the characteristic "Greek helmet" appearance of the nose was less evident, probably reflecting a variable expression related to the genetic background...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28783116/teratogenic-effects-of-topiramate-in-a-zebrafish-model
#6
Yu-Heng Lai, Yu-Ju Ding, David Moses, Yau-Hung Chen
Topiramate is commonly used for treating epilepsy in both children and adults. Recent clinical data suggests that administration of topiramate to women during pregnancy increases the risk of oral clefts in their offspring. To better understand the potential effects of topiramate, we dosed adult female zebrafish with topiramate, and investigated the altered morphologies in adult females and their offspring. It showed that topiramate-treated female fish had reduced oocyte maturation, and the survival rates of their offspring were seriously decreased during embryogenesis...
August 7, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28771384/vax1-plays-an-indirect-role-in-the-etiology-of-murine-cleft-palate
#7
F Geoghegan, G M Xavier, A A Birjandi, M Seppala, M T Cobourne
Cleft lip with or without palate (CLP) and isolated cleft palate (CP) are common human developmental malformations with a complex etiology that reflects a failure of normal facial development. VAX1 encodes a homeobox-containing transcription factor identified as a candidate gene for CLP in human populations, with targeted deletion in mice associated with multiple anomalies, including disruption of the visual apparatus and basal forebrain, lobar holoprosencephaly, and CP. We have investigated Vax1 function during murine palatogenesis but found no evidence for a direct role in this process...
August 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28769044/intercellular-genetic-interaction-between-irf6-and-twist1-during-craniofacial-development
#8
Walid D Fakhouri, Kareem Metwalli, Ali Naji, Sarah Bakhiet, Angela Quispe-Salcedo, Larissa Nitschke, Youssef A Kousa, Brian C Schutte
Interferon Regulatory Factor 6 (IRF6) and TWIST1 are transcription factors necessary for craniofacial development. Human genetic studies showed that mutations in IRF6 lead to cleft lip and palate and mandibular abnormalities. In the mouse, we found that loss of Irf6 causes craniosynostosis and mandibular hypoplasia. Similarly, mutations in TWIST1 cause craniosynostosis, mandibular hypoplasia and cleft palate. Based on this phenotypic overlap, we asked if Irf6 and Twist1 interact genetically during craniofacial formation...
August 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28767297/dentition-patterns-in-different-unilateral-cleft-lip-subphenotypes
#9
B Asllanaj, L Kragt, I Voshol, M Koudstaal, M A Kuijpers, T Xi, S J Bergé, C Vermeij-Keers, E M Ongkosuwito
Oral clefts play an essential role in disturbed odontogenesis of the deciduous and permanent dentition, yet little is known about this relationship. We investigated, within the categories cleft lip with or without alveolus (CL ± A) and cleft lip, alveolus and palate (CLAP), whether different CL subphenotypes based on morphological severity of the cleft show different dentition patterns and whether a more detailed subdivision of the incomplete CL has clinical relevance. In this retrospective study, 345 children with nonsyndromic unilateral CL ± A and CLAP from the Dutch Association for Cleft Palate and Craniofacial Anomalies (NVSCA) registry were included to assess the association between the CL subphenotypes and lateral incisor patterns...
August 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28762674/identifying-genetic-sources-of-phenotypic-heterogeneity-in-orofacial-clefts-by-targeted-sequencing
#10
Jenna C Carlson, Margaret A Taub, Eleanor Feingold, Terri H Beaty, Jeffrey C Murray, Mary L Marazita, Elizabeth J Leslie
BACKGROUND: Orofacial clefts (OFCs), including nonsyndromic cleft lip with or without cleft palate (NSCL/P), are common birth defects. NSCL/P is highly heterogeneous with multiple phenotypic presentations. Two common subtypes of NSCL/P are cleft lip (CL) and cleft lip with cleft palate (CLP) which have different population prevalence. Similarly, NSCL/P can be divided into bilateral and unilateral clefts, with unilateral being the most common. Individuals with unilateral NSCL/P are more likely to be affected on the left side of the upper lip, but right side affection also occurs...
July 17, 2017: Birth defects research
https://www.readbyqxmd.com/read/28757931/new-insights-in-orofacial-cleft-epidemiological-and-genetic-studies-on-italian-samples
#11
L Tettamanti, A Avantaggiato, M Nardone, A Palmieri, A Tagliabue
Cleft of the lip and/or palate (CL±P) is the most common congenital craniofacial anomaly affecting around 1 in 700 live births worldwide. Clefts of the human face can be classified anatomically as cleft lip only (CL), cleft palate only (CP), cleft lip and palate (CLP) or a combined group of cleft lip with or without cleft palate (CL±P), based on differences in embryologic development. CL±P has a genetic base and several linkage and association analyses have been performed in order to obtain important information about the role of candidate genes in its onset; not less important are gene-environment interactions that play an increasing role in its aetiology...
January 2017: Oral & Implantology
https://www.readbyqxmd.com/read/28747097/tissue-engineering-strategies-to-improve-osteogenesis-in-the-juvenile-swine-alveolar-cleft-model
#12
Montserrat Caballero, Donna C Jones, Zhengyuan Shan, Sajjad Soleimani, John A van Aalst
Alveolar <b>(gumline)</b> clefts are the most common congenital bone defect in humans, affecting 1 in 700 live births. Treatment <b>to repair these bony</b> defects relies on autologous, <b>cancellous</b> bone transfer from the iliac crest. This harvest requires a second surgical site <b>with increased </b>surgical time associated with potential complications, <b>while providing only limited cancellous bone</b>. Improvements in treatment protocols that avoid these limitations would be beneficial to patients with clefts and other craniofacial bone defects...
July 26, 2017: Tissue Engineering. Part C, Methods
https://www.readbyqxmd.com/read/28728728/cleft-and-craniofacial-surgery
#13
Barry Steinberg, John Caccamese, Bernard J Costello, Jennifer Woerner
No abstract text is available yet for this article.
August 2017: Journal of Oral and Maxillofacial Surgery
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
#14
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/28724820/a-rare-case-of-cleft-number-nine-associated-with-atypical-cleft-number-two
#15
Shivanand Chanabasu Bubanale, Santosh B Kurbet, Linda Maria Genoveva De Piedade Sequeira
The incidence of the craniofacial cleft is rare ranging between 1.43 and 4.85/100,000 births. Tessier number nine cleft being the rarest, there are a few reports of detailed ophthalmologic examinations performed in them. In this study, 1-day-old female neonate delivered by normal vaginal delivery at term, weighing 1480 g presented with right eye dystopia, cleft extending through the lateral third of the upper eyelid, brow ending at the temporal region, conjunctival congestion, clear cornea 10 mm in diameter, normal anterior chamber, pupil 2 mm reactive to light, clear lens, and normal fundus...
July 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28713498/identical-twins-with-pierre-robin-syndrome-unusual-encounter
#16
Nabil Shdaifat, Zaid Al-Zoubi, Hazem Khraisat, Rana Al-Omor, Khaled Matar
New born babies could suffer from multiple craniofacial abnormalities, such as Pierre Robin syndrome, which consists of micrognathia and relative macroglossia with or without cleft palate. Although Pierre Robin syndrome is well described in literature, only a few have mentioned its occurrence in identical twins. This paper presents a rare incident of full-term twin babies born with the sequence of Pierre Robin syndrome, which consists of micrognathia, cleft palate, and glossoptosis. Although it is a rare coincidence, Pierre Robin syndrome still can occur in identical twin babies...
May 2017: Electronic Physician
https://www.readbyqxmd.com/read/28712851/irf6-rs2235375-single-nucleotide-polymorphism-is-associated-with-isolated-non-syndromic-cleft-palate-but-not-with-cleft-lip-with-or-without-palate-in-south-indian-population
#17
Venkatesh Babu Gurramkonda, Altaf Hussain Syed, Jyotsna Murthy, Bhaskar V K S Lakkakula
INTRODUCTION: Transcription factors are very diverse family of proteins involved in activating or repressing the transcription of a gene at a given time. Several studies using animal models demonstrated the role of transcription factor genes in craniofacial development. OBJECTIVE: We aimed to investigate the association of IRF6 intron-6 polymorphism in the non-syndromic cleft lip with or without Palate in a south Indian population. METHODS: 173 unrelated nonsyndromic cleft lip with or without Palate patients and 176 controls without clefts patients were genotyped for IRF6 rs2235375 variant by allele-specific amplification using the KASPar single nucleotide polymorphism genotyping system...
June 26, 2017: Brazilian Journal of Otorhinolaryngology
https://www.readbyqxmd.com/read/28708650/analysis-of-stress-trajectories-in-human-adult-cleft-skull
#18
Pandurangan Harikrishnan, Vasudevan Balakumaran
The craniofacial skeleton is designed to withstand the functional forces during mastication. Distribution of these forces is along the stress trajectories that can vary in a cleft skull compared with a normal skull. In this study, the authors constructed finite element models of cleft and normal skull and subjected them for occlusal loading in the posterior teeth. The results showed variation in the trajectories between the models and between the cleft and noncleft sides within the cleft model.
July 13, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28708641/secondary-palatal-elongation-improvement-in-speech-quality
#19
Muzaffer Çelik
Cleft palate is one of the challenging problems in the field of craniofacial surgery. In particular, the conventional methods of bilateral and severe cleft palate repairs have failed to achieve normal speech. In most instances, secondary procedures such as pharyngoplasty and pharyngeal flap surgery are performed to improve speech.This study introduces secondary palatal elongation (SPE) as a new approach to cleft palate repair. The patients included usually had a short palate and unrepaired palatal muscles. The authors' procedure involved dissecting the previously repaired palatal mucosa and pushing back and cutting the nasal mucosa of the palate horizontally and further pushing it back...
July 13, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28708640/is-cleft-severity-correlated-with-intrinsic-growth-pattern-observation-from-unoperated-adult-patients-with-submucous-cleft-palate
#20
Congcong Cao, Xue Xu, Bing Shi, Qian Zheng, Jingtao Li
OBJECTIVE: This study aimed to evaluate the craniofacial morphology of unoperated adult submucous cleft palate (SMCP) patients and to explore the possible correlation between the intrinsic growth insufficiency of the maxillofacial complex and the severity of the cleft. MATERIALS AND METHODS: A total of 20 unoperated SMCP patients, 20 unoperated overt cleft palate (OCP) patients, and 32 normal controls, ages between 18 and 30, were included for cephalometric analysis...
July 13, 2017: Journal of Craniofacial Surgery
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