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craniofacial cleft

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https://www.readbyqxmd.com/read/28602633/automated-cleft-speech-evaluation-using-speech-recognition
#1
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
#2
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
#3
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
#4
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
#5
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
https://www.readbyqxmd.com/read/28534456/effects-of-folic-acid-fortification-on-orofacial-clefts-prevalence-a-meta-analysis
#6
Natalia Millacura, Rosa Pardo, Lucia Cifuentes, José Suazo
OBJECTIVE: Orofacial clefts (OFC) are the most prevalent craniofacial birth defect. Folic acid (FA) supplementation has been demonstrated as an effective intervention to reduce risk of OFC occurrence. However, the effect of mandatory FA fortification of wheat and/or maize flour on OFC prevalence has shown controversial results among countries adopting this policy. Thus, we performed a meta-analysis to synthesize the available evidence evaluating the global impact of this mandatory policy on OFC occurrence...
May 23, 2017: Public Health Nutrition
https://www.readbyqxmd.com/read/28526461/-anesthesia-in-a-child-operated-for-cleft-lip-associated-with-patau-s-syndrome
#7
Manoj Kamal, Don Varghese, Jeet Bhagde, Geeta Singariya, Annie Miju Simon, Amar Singh
Patients with Patau's syndrome (Trisomy 13) have multiple craniofacial, cardiac, neurological and renal anomalies with very less life expectancy. Among craniofacial anomalies cleft lip and palate are common. These craniofacial and cardiac anomalies present difficulties with anesthesia. We therefore describe the anesthetic management in the case of a Trisomy 13 child for operated for cleft lip at 10 months of age.
May 16, 2017: Revista Brasileira de Anestesiologia
https://www.readbyqxmd.com/read/28512138/factors-predicting-parent-anxiety-around-infant-and-toddler-postoperative-and-pain
#8
Rebecca E Rosenberg, Rachael A Clark, Patricia Chibbaro, H Rhodes Hambrick, Jean-Marie Bruzzese, Chris Feudtner, Alan Mendelsohn
BACKGROUND AND OBJECTIVES: Understanding of parent anxiety and its effect on infant postoperative pain is limited. We sought to identify psychological factors associated with preoperative anxiety for parents of infants and toddlers undergoing elective surgery and to determine whether parent anxiety is associated with child postoperative pain. METHODS: This was a prospective cohort study of consecutively eligible patients aged ≤18 months undergoing craniofacial surgery and their parents...
May 16, 2017: Hospital Pediatrics
https://www.readbyqxmd.com/read/28481036/generation-and-characterization-of-a-conditional-allele-of-interferon-regulatory-factor-6
#9
Arianna L Smith, Youssef A Kousa, Akira Kinoshita, Kate Fodor, Baoli Yang, Brian C Schutte
Interferon Regulatory Factor 6 (IRF6) is a critical regulator of differentiation, proliferation and migration of keratinocytes. Mutations in IRF6 cause two autosomal dominant disorders characterized by cleft lip with or without cleft palate. In addition, DNA variation in IRF6 confers significant risk for non-syndromic cleft lip and palate. IRF6 is also implicated in adult onset development and disease processes, including mammary gland development and squamous cell carcinoma. Mice homozygous for a null allele of Irf6 die shortly after birth due to severe skin, limb, and craniofacial defects, thus impeding the study of gene function after birth...
May 8, 2017: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/28468209/management-of-a-large-frontal-encephalocoele-with-supraorbital-bar-remodeling-and-advancement
#10
Shaal Ramdial, Trishan Pillay, Anil Madaree
Of all the craniofacial abnormalities, facial clefts are the most disfiguring. Facial clefts are classified according to the affected anatomical area as described by Tessier. Through this classification, the location and extent of the cleft can be designated numerically.A 2-month-old male infant was referred to authors' craniofacial unit, from a hospital in a rural province of South Africa, with a problem of a supranasal encephalocoele. Bilateral raised eyebrows were noted as was a right-sided upper lid central third coloboma...
May 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28468150/cleft-and-craniofacial-clinic-formats-in-the-united-states-national-and-institutional-survey
#11
Brendan Alleyne, Haruko C Okada, Randi M Leuchtag, David J Rowe, Hooman T Soltanian, Devra B Becker, Gregory E Lakin
BACKGROUND: Craniofacial teams employ multidisciplinary clinics to optimize patient care. Different clinic formats exist among teams. Formats include providers rotating from room to room as separate specialties, patients rotating from room to room to either separate specialties or as 1 group, as well as providers rotating together as 1 group. Surveys were used to study family preferences between the different formats and to compare them with trends of national practices. METHODS: Families of the authors' team clinic patients were surveyed from November 2012 to February 2013, after a clinic format change from patients moving between rooms to see providers, to providers moving between rooms to see patients...
May 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28432837/identifying-genetic-sources-of-phenotypic-heterogeneity-in-orofacial-clefts-by-targeted-sequencing
#12
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...
April 22, 2017: Birth defects research
https://www.readbyqxmd.com/read/28420997/micrornas-in-palatogenesis-and-cleft-palate
#13
REVIEW
Christian Schoen, Armaz Aschrafi, Michelle Thonissen, Geert Poelmans, Johannes W Von den Hoff, Carine E L Carels
Palatogenesis requires a precise spatiotemporal regulation of gene expression, which is controlled by an intricate network of transcription factors and their corresponding DNA motifs. Even minor perturbations of this network may cause cleft palate, the most common congenital craniofacial defect in humans. MicroRNAs (miRNAs), a class of small regulatory non-coding RNAs, have elicited strong interest as key regulators of embryological development, and as etiological factors in disease. MiRNAs function as post-transcriptional repressors of gene expression and are therefore able to fine-tune gene regulatory networks...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28417904/zebrafish-as-an-alternative-vertebrate-model-for-investigating-developmental-toxicity-the-triadimefon-example
#14
Maria Zoupa, Kyriaki Machera
Triadimefon is a widely used triazole fungicide known to cause severe developmental defects in several model organisms and in humans. The present study evaluated in detail the developmental effects seen in zebrafish embryos exposed to triadimefon, confirmed and expanded upon previous phenotypic findings and compared them to those observed in other traditional animal models. In order to do this, we exposed embryos to 2 and 4 µg/mL triadimefon and evaluated growth until 120 h post-fertilization (hpf) through gross morphology examination...
April 12, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28393824/single-stage-correction-of-bilateral-tessier-4-cleft
#15
S M Balaji
Tessier facial clefts are among the rarest facial clefts reported in literature and many contradicting issues have always been rising over the management and surgical approaches involved during the craniofacial cleft repair. Among the craniofacial clefts Tessier no. 4 is an extremely rare facial anomaly, and there are very few evidence which clearly describe the surgical approaches and techniques. Often these type of craniofacial clefts yield very poor surgical results, and they require multidisciplinary sequential corrective surgeries...
January 2017: Indian Journal of Dental Research: Official Publication of Indian Society for Dental Research
https://www.readbyqxmd.com/read/28383424/polymorphic-variants-in-vax1-and-the-risk-of-nonsyndromic-cleft-lip-with-or-without-cleft-palate-in-a-population-from-northern-china
#16
Dongmei Li, Tingting Liu, Xiangbiao Meng, Qiang Guo, Jinna Shi, Yanru Hao, Xiaohui Jiao, Kewen Lv, Tao Song
BACKGROUND: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common craniofacial birth defects, and the etiology of NSCL/P involves both genetic and environmental factors. Genome-wide association study (GWAS) identified a novel susceptibility locus of ventral anterior homeobox 1 (VAX1) in patients with NSCL/P. However, the association of single nucleotide polymorphisms (SNPs) of VAX1 with NSCL/P is inconclusive due to the differences in the racial and ethnic populations...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28356131/treatment-of-infants-with-syndromic-robin-sequence-with-modified-palatal-plates-a-minimally-invasive-treatment-option
#17
Silvia Müller-Hagedorn, Wolfgang Buchenau, Jörg Arand, Margit Bacher, Christian F Poets
BACKGROUND: Infants with Robin sequence (RS) suffer from upper airway obstruction (UAO) and feeding problems. We developed an oral appliance with a velar extension in combination with functional treatment and appropriate feeding techniques, which was proven effective in isolated RS. As the above problems are particularly challenging in syndromic RS, we set out to evaluate our treatment concept also in these patients. METHODS: We searched our electronic departmental database to identify all children admitted to our department between 01/01/2003 and 31/12/2009 because of syndromic RS...
March 30, 2017: Head & Face Medicine
https://www.readbyqxmd.com/read/28346501/a-tissue-specific-role-for-intraflagellar-transport-genes-during-craniofacial-development
#18
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/28338586/towards-microsurgical-correction-of-cleft-lip-ex-utero-via-restoration-of-craniofacial-developmental-programs
#19
Xue Dong, Wilmina N Landford, James Hart, Maurizio Risolino, Omer Kaymakcalan, Julia Jin, Yoshiko Toyoda, Elisabetta Ferretti, Licia Selleri, Jason A Spector
BACKGROUND: Cleft Lip with or without Palate (CL/P) is present in approximately 1 in 500-700 live births, representing the most common congenital craniofacial anomaly. Previously, we developed a unique murine model with compound Pbx deficiency that exhibits fully penetrant CL/P. To investigate the possibility of tissue repair at an early gestational stage, we designed a minimally invasive surgical approach suitable for intrauterine repair using Wnt9b-soaked collagen microspheres to restore craniofacial developmental programs for cleft correction...
March 3, 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28338583/discussion-towards-microsurgical-correction-of-cleft-lip-ex-utero-via-restoration-of-craniofacial-developmental-programs
#20
Ryan C Ransom, H Peter Lorenz, Michael T Longaker
No abstract text is available yet for this article.
March 3, 2017: Plastic and Reconstructive Surgery
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