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https://www.readbyqxmd.com/read/28713498/identical-twins-with-pierre-robin-syndrome-unusual-encounter
#1
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
#2
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
#3
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
#4
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
#5
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
https://www.readbyqxmd.com/read/28697314/grainyhead-like-transcription-factors-in-craniofacial-development
#6
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/28692520/disruption-of-hedgehog-signaling-by-vismodegib-leads-to-cleft-palate-and-delayed-osteogenesis-in-mice
#7
Shixian Zhang, Chengyong Wang, Changfu Xie, Yongzhen Lai, Di Wu, Guowu Gan, Weihui Chen
The function of hedgehog signaling has previously been shown to be crucial for craniofacial development. In this study, we treated C57/BL6J mice with the hedgehog pathway inhibitor vismodegib by oral gavage to establish a stable vismodegib-induced cleft palate model. At E10.5 and E12.5, mice in the experimental group were treated with 100 mg/kg of vismodegib, whereas mice in the control group were treated with solvent. The treated pregnant mice were sacrificed on E13.5, E14.5, E15.5, and E16.5. Palatal shelf growth was evaluated via histological and immunohistochemical analyses as well as palatal organ culture...
July 7, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28686747/functional-analysis-of-the-zebrafish-ortholog-of-hmgcs1-reveals-independent-functions-for-cholesterol-and-isoprenoids-in-craniofacial-development
#8
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/28684073/craniofacial-and-extracraniofacial-anomalies-in-craniofacial-macrosomia-a-multicenter-study-of-755-patients
#9
Cornelia J J M Caron, Britt I Pluijmers, Eppo B Wolvius, Caspar W N Looman, Neil Bulstrode, Robert D Evans, Peter Ayliffe, John B Mulliken, David Dunaway, Bonnie Padwa, Maarten J Koudstaal
PURPOSE: Craniofacial microsomia (CFM) is a congenital malformation of structures derived from the first and second pharyngeal arches leading to underdevelopment of the face. However, besides the craniofacial underdevelopment, extracraniofacial anomalies including cardiac, renal and skeletal malformation have been described. The aim of this study is to analyse a large population of patients with regard to demographics, typical phenotypes including craniofacial and extracraniofacial anomalies, and the correlations between the different variables of this condition...
June 8, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28678141/prevalence-of-rare-craniofacial-clefts
#10
Abdoljalil Kalantar-Hormozi, Ali Abbaszadeh-Kasbi, Farhood Goravanchi, Nazanin Rita Davai
BACKGROUND: Craniofacial clefts are extremely rare congenital malformations that have adverse functional, psychosocial, and aesthetic effects on patients' life. Although the exact incidence is unclear, it is estimated between 1.4 and 4.9 per 100,000 live births. Prevalence of the rare craniofacial clefts is imprecise due to the paucity of literature as well as their etiologies. METHODS: All the patients with rare craniofacial clefts during 10 years in a plastic surgery tertiary referral hospital were included, and Tessier craniofacial clefting classification was used for classifying the clefts...
July 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28678140/the-americleft-project-plaster-dental-casts-versus-digital-images-for-goslon-yardstick-ratings-when-used-in-intercenter-comparisons
#11
Ross E Long, John Daskalogiannakis, Ana M Mercado, Ronald R Hathaway, Jennifer Fessler, Kathleen A Russell
The purpose of this investigation was to determine reliability and validity of GOSLON Yardstick ratings using plaster casts versus photo galleries of digital images in actual intercenter comparisons. The dental arch relationships of 112 patients with complete unilateral cleft lip and palate from 3 North American cleft/craniofacial centers were rated in 2 separate studies. In the first, plaster casts were used. For a later intercenter comparison, the same dental casts were scanned, digital bases added, and two-dimensional photographic galleries (6 views) were created for each set of casts...
July 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28673238/report-of-an-unsual-case-of-anophthalmia-and-craniofacial-cleft-in-a-newborn-with-toxoplasma-gondii-congenital-infection
#12
Gabriel Emmanuel Arce-Estrada, Valeria Gómez-Toscano, Carlos Cedillo-Peláez, Ana Luisa Sesman-Bernal, Vanessa Bosch-Canto, José Luis Mayorga-Butrón, José Antonio Vargas-Villavicencio, Dolores Correa
BACKGROUND: We present one unusual case of anophthalmia and craniofacial cleft, probably due to congenital toxoplasmosis only. CASE PRESENTATION: A two-month-old male had a twin in utero who disappeared between the 7(th) and the 14(th) week of gestation. At birth, the baby presented anophthalmia and craniofacial cleft, and no sign compatible with genetic or exposition/deficiency problems, like the Wolf-Hirschhorn syndrome or maternal vitamin A deficiency. Congenital toxoplasmosis was confirmed by the presence of IgM abs and IgG neo-antibodies in western blot, as well as by real time PCR in blood...
July 3, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28656723/stem-cell-therapy-for-reconstruction-of-alveolar-cleft-and-trauma-defects-in-adults-a-randomized-controlled-clinical-trial
#13
Mona N Bajestan, Archana Rajan, Sean P Edwards, Sharon Aronovich, Lucia H S Cevidanes, Angeliki Polymeri, Suncica Travan, Darnell Kaigler
BACKGROUND: Stem cell therapy with bone marrow-derived mesenchymal stem cells is a promising tissue engineering strategy to promote regeneration of craniofacial bone. PURPOSE: To determine whether cell therapy with ex vivo expanded stem cell populations would be safe and efficacious in the regeneration of large alveolar defects in patients with a history of cleft palate or craniofacial trauma. MATERIALS AND METHODS: Eighteen patients (10 patients with traumatic injury and 8 patients with cleft palate) presenting with missing teeth associated with horizontal alveolar bone deficiencies were included in this randomized controlled clinical trial...
June 28, 2017: Clinical Implant Dentistry and related Research
https://www.readbyqxmd.com/read/28653561/incidence-of-secondary-surgery-after-modified-furlow-palatoplasty-a-20-year-single-surgeon-case-series
#14
Stephen R Chorney, Emily Commesso, And Sherard Tatum
Objective To determine the occurrence of velopharyngeal insufficiency (VPI) requiring surgery and fistula repair after primary palatoplasty using a "modified" Furlow technique. Study Design Case series with chart review. Setting Academic multidisciplinary cleft and craniofacial center. Subjects and Methods Children younger than 18 years at presentation, with unrepaired cleft palate, with or without cleft lip, including submucous clefts, who underwent palatoplasty were included. No cleft patients having primary repair were excluded...
June 1, 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28643456/irf6-expression-in-basal-epithelium-partially-rescues-irf6-knockout-mice
#15
Youssef A Kousa, Dina Moussa, Brian C Schutte
BACKGROUND: Mutations in IRF6, CHUK (IKKA) and RIPK4 can lead to a disease spectrum that includes cutaneous, limb and craniofacial malformations. Loss of these alleles in the mouse leads to perinatal lethality and severe cutaneous, limb and craniofacial defects. Genetic rescue in the mouse has been shown for Ikka and Ripk4. RESULTS: Here, we show partial genetic rescue of Irf6 knockout embryos using the KRT14 promoter to drive Irf6 expression in the basal epithelium...
June 23, 2017: Developmental Dynamics: An Official Publication of the American Association of Anatomists
https://www.readbyqxmd.com/read/28602633/automated-cleft-speech-evaluation-using-speech-recognition
#16
Megan Vucovich, Rami R Hallac, Alex A Kane, Julie Cook, Cortney Van'T Slot, James R Seaward
Perceptual evaluation remains the gold-standard evaluation of cleft speech, but with any human interpretation, there can be bias. Eliminating bias, allowing comparison of speech data between units, is labor and time intensive. Globally, there is a shortage of listeners. We have developed a computer learning system to evaluate cleft speech. Our automated cleft speech evaluator interprets resonance and articulatory cleft speech errors. Speech recognition engines typically ignore voice characteristics and speech errors of the speaker, but in cleft speech evaluation, these features are paramount...
May 17, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28558149/mandibulofacial-dysostosis-bauru-type-refining-the-phenotype
#17
Priscila P Moura, Nancy M Kokitsu-Nakata, Marília S Yatabe, Siulan Vendramini-Pittoli, Pedro H Hori, Maria L Guion-Almeida, Daniela G Garib, Antonio Richieri-Costa, Roseli M Zechi-Ceide
Mandibulofacial dysostosis (MFD) Bauru type (OMIM 604830) is a rare genetic condition characterized mainly by malar hypoplasia, orofacial cleft, and micrognathia. Here, we describe the clinical and radiographic sings of 13 individuals (12 female and 1 male) from eight unrelated kindreds with MFD Bauru type, including four previously reported cases, treated at the Hospital for Rehabilitation of Craniofacial Anomalies. The clinical phenotype was characterized by severe underdevelopment of mandible, midface hypoplasia, orofacial cleft, bitemporal narrowing, mild upper eyelid down slanting, high nasal bridge, thick and everted lower lip, minor ears abnormalities, and hearing loss...
May 30, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28557774/the-primary-care-pediatrician-and-the-care-of-children-with-cleft-lip-and-or-cleft-palate
#18
Charlotte W Lewis, Lisa S Jacob, Christoph U Lehmann
Orofacial clefts, specifically cleft lip and/or cleft palate (CL/P), are among the most common congenital anomalies. CL/P vary in their location and severity and comprise 3 overarching groups: cleft lip (CL), cleft lip with cleft palate (CLP), and cleft palate alone (CP). CL/P may be associated with one of many syndromes that could further complicate a child's needs. Care of patients with CL/P spans prenatal diagnosis into adulthood. The appropriate timing and order of specific cleft-related care are important factors for optimizing outcomes; however, care should be individualized to meet the specific needs of each patient and family...
May 2017: Pediatrics
https://www.readbyqxmd.com/read/28550290/differential-methylation-is-associated-with-non-syndromic-cleft-lip-and-palate-and-contributes-to-penetrance-effects
#19
Lucas Alvizi, Xiayi Ke, Luciano Abreu Brito, Rimante Seselgyte, Gudrun E Moore, Philip Stanier, Maria Rita Passos-Bueno
Non-syndromic cleft lip and/or palate (NSCLP) is a common congenital malformation with a multifactorial model of inheritance. Although several at-risk alleles have been identified, they do not completely explain the high heritability. We postulate that epigenetic factors as DNA methylation might contribute to this missing heritability. Using a Methylome-wide association study in a Brazilian cohort (67 NSCLP, 59 controls), we found 578 methylation variable positions (MVPs) that were significantly associated with NSCLP...
May 26, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28538061/clinical-experience-of-treatment-of-facial-malformations-in-oto-palato-digital-syndrome-a-familial-patient
#20
Tomoe Kira-Koizumi, Nobuyuki Mitsukawa, Tadashi Morishita, Shinsuke Akita, Yoshitaka Kubota, Kaneshige Satoh
Oto-palato-digital syndrome type 1 (OPD1) is an X-linked recessive disorder comprising characteristic facial appearances and skeletal alterations. The authors report OPD1 in a mother and her 2 sons who had multiple common congenital anomalies. Both of the brothers were born with mild hearing impairment, frontal bossing with prominent supraorbital ridges, downslanting palpebral fissures, dental malocclusion, and palatal clefts. They underwent a series of aesthetic surgeries for their facial malformations with good cosmetic results...
June 2017: Journal of Craniofacial Surgery
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