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https://www.readbyqxmd.com/read/29457660/prevalence-of-orofacial-clefts-and-risks-for-nonsyndromic-cleft-lip-with-or-without-cleft-palate-in-newborns-at-a-university-hospital-from-west-mexico
#1
Jorge Román Corona-Rivera, Lucina Bobadilla-Morales, Alfredo Corona-Rivera, Christian Peña-Padilla, Sandra Olvera-Molina, Miriam A Orozco-Martín, Diana García-Cruz, Izabel M Ríos-Flores, Brian Gabriel Gómez-Rodríguez, Gemma Rivas-Soto, J Jesús Pérez-Molina
We determined the overall prevalence of typical orofacial clefts (OFCs) and the potential risks for nonsyndromic cleft lip with or without palate (NSCL±P) in a University Hospital from west México. For the prevalence, 227 live born infants with typical OFCs were included from a total of 81,193 births occurred during the period 2009 to 2016 at the 'Dr. Juan I. Menchaca' Civil Hospital of Guadalajara (Guadalajara, Jalisco, Mexico). To evaluate potential risks, a case-control study was conducted among 420 newborns, including only those 105 patients with NSCL±P (cases), and 315 infants without birth defects (controls)...
February 19, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29457596/evaluation-of-osteoinductive-calcium-phosphate-ceramics-repairing-alveolar-cleft-defects-in-dog-model
#2
Jinfeng Yao, Haodong Chen, Qi Gao, Zhigang Liang
BACKGROUND: Alveolar cleft repair is an important step in the sequence of treatments for cleft lip and palate. Intrinsically osteoinductive materials have been the subject of research interest. OBJECTIVE: The aim of this study was to explore the use of osteoinductive biphasic calcium phosphate (BCP) ceramics to repair alveolar cleft defects in dogs. METHODS: We prepared two kinds of BCP ceramic with different physical characteristics: osteoinductive BCP (OBCP) and non-osteoinductive BCP (NBCP)...
2018: Bio-medical Materials and Engineering
https://www.readbyqxmd.com/read/29457208/children-deserve-smoke-free-world
#3
REVIEW
R Remesh Kumar, P R Jayakumar, R Krishna Mohan
Tobacco smoke, active or passive exposure was the major cause of preventable morbidity and mortality in the world during twentieth century and will continue to be the same in the twenty-first century also if the current trends continue. Both active and passive smoking are having significance in relation to child health. Exposure starts antenatally from placenta to the fetus and later phases through passive exposure to experimental and regular smoking and ultimately addiction and habitual smoking. Evidences are in favour of causal relationship with intrauterine growth restriction, sudden infant death syndrome, decreased pulmonary function, increased risk for respiratory tract infection, otitis media, wheeze, asthma, neurobehavioral disorders, cleft palate and triggering pathogenesis of fetal and childhood onset of adult diseases, especially pulmonary and cardio vascular diseases...
February 19, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29456483/two-novel-pathogenic-mid1-variants-and-genotype-phenotype-correlation-reanalysis-in-x-linked-opitz-g-bbb-syndrome
#4
Nuno Maia, Maria J Nabais Sá, Nataliya Tkachenko, Gabriela Soares, Isabel Marques, Bárbara Rodrigues, Ana M Fortuna, Rosário Santos, Arjan P M de Brouwer, Paula Jorge
X-linked Opitz G/BBB syndrome (XLOS) is a multisystemic congenital condition, caused by mutations in the midline-1 gene ( MID1 ), characterized by a large inter- and intrafamilial phenotypic variability and often associated with intellectual disability (ID). We report clinical, genetic, and molecular findings in 4 patients with typical XLOS dysmorphic features belonging to 2 unrelated families. Two novel pathogenic loss-of-function MID1 variants, a maternally inherited c.1656del and a de novo c.1215_1228dup, were identified...
December 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29452576/assessing-retention-in-care-after-12-months-of-the-pediatric-development-clinic-implementation-in-rural-rwanda-a-retrospective-cohort-study
#5
Scheilla Bayitondere, Francois Biziyaremye, Catherine M Kirk, Hema Magge, Katrina Hann, Kim Wilson, Christine Mutaganzwa, Eric Ngabireyimana, Fulgence Nkikabahizi, Evelyne Shema, David B Tugizimana, Ann C Miller
BACKGROUND: In Africa, a high proportion of children are at risk for developmental delay. Early interventions are known to improve outcomes, but they are not routinely available. The Rwandan Ministry of Health with Partners In Health/Inshuti Mu Buzima created the Pediatric Development Clinic (PDC) model for providing interdisciplinary developmental care for high-risk infants in rural settings. As retention for chronic care has proven challenging in many settings, this study assesses factors related to retention to care after 12 months of clinic enrollment...
February 16, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29450693/the-effect-of-assisted-reproductive-technology-on-the-incidence-of-birth-defects-among-livebirths
#6
Gil Shechter-Maor, Nicholas Czuzoj-Shulman, Andrea R Spence, Haim Arie Abenhaim
PURPOSE: Our study objective is to examine the association between births conceived with assisted reproductive technology (ART) and birth defects using a large database from the United States. METHODS: Using the Centers for Disease Control and Prevention's Period-linked birth-infant death data files and fetal death database for 2011-2013, we conducted a retrospective cohort study comprised of live births that occurred in the USA during that time. Multivariate logistic regression was used to estimate the association between ART and birth defects, both overall and by specific defects...
February 15, 2018: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/29447817/mature-and-immature-pediatric-head-and-neck-teratomas-a-15-year-review-at-a-large-tertiary-center
#7
Harish Dharmarajan, Noémie Rouillard-Bazinet, Binoy M Chandy
INTRODUCTION: Pediatric head and neck teratomas account for less than 4% of congenital teratomas. The distinct presentations and outcomes of mature and immature head and neck teratomas have not been well established. OBJECTIVES: To review the management and outcomes of pediatric head and neck teratomas. To distinguish differences between mature and immature tumors with respect to the age at presentation and surgery, tumor size and location, alpha fetoprotein (AFP) levels, airway management, and recurrence...
February 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29446986/an-intercenter-comparison-of-nasolabial-appearance-including-a-center-using-nasoalveolar-molding
#8
Supakit Peanchitlertkajorn, Ana Mercado, John Daskalogiannakis, Ronald Hathaway, Kathleen Russell, Gunvor Semb, William Shaw, Manish Lamichane, Marilyn Cohen, Ross E Long
OBJECTIVE: To compare nasolabial appearance outcomes of patients with complete unilateral cleft lip and palate (CUCLP) in preadolescence from 4 cleft centers including a center using nasoalveolar molding (NAM) and primary nasal reconstruction. DESIGN: Retrospective cohort study. SETTING: Four cleft centers in North America. PATIENTS: 135 subjects with repaired CUCLP. METHODS: Frontal and profile facial pictures were assessed using the Asher-McDade rating scale...
January 1, 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29446255/potential-genetic-markers-for-nonsyndromic-oral-clefts-in-the-brazilian-population-a-systematic-review-and-meta-analysis
#9
REVIEW
Renato Assis Machado, Isabela Porto de Toledo, Hercilio Martelli-Júnior, Silvia Regina Reis, Eliete Neves Silva Guerra, Ricardo D Coletta
BACKGROUND: Although various genes and genomic regions were described as of susceptibility for nonsyndromic oral clefts (NOC), recent reports have demonstrated significant interethnic variations in the genetic predisposition, a situation that affects the Brazilian population, one of the most admixed populations in the world. Therefore, the purpose of this review was to describe the available information on genetic risk markers for NOC in the Brazilian population. METHODS: A systematic search of the literature was performed using LILACS, LIVIVO, PubMed, Scopus, and Web of Science databases, and studies that investigated genetic susceptibility markers for NOC in the Brazilian population were retrieved...
February 15, 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29442083/cleft-rhinoplasty-columellar-lengthening-comparison-of-techniques
#10
S M Balaji
Background: Nasal deformity in bilateral cleft lip and palate (BCLP) correction is highly challenging. Several solution has been proposed. The aim of the present study is to assess qualitatively and quantitatively the results of Cronin's flap, Fork flap, and Abbe's flap for BCLP rhinoplasty at a follow-up period. Materials and Methods: : Records of all BCLP rhinoplasty performed between 2010 and 2016, fulfilling inclusion and exclusion criteria were collected. From records, qualitative improvement and previously described methods of quantification of columella length were performed...
January 2018: Indian Journal of Dental Research: Official Publication of Indian Society for Dental Research
https://www.readbyqxmd.com/read/29440852/rare-variant-of-ankyloblepharon-ectodermal-defect-cleft-lip-cleft-palate-syndrome-curly-hair-ankyloblepharon-nail-disease-syndrome
#11
Ajay Chopra, Debdeep Mitra, Renu Kandpal, Reetu Agarwal
Ankyloblepharon-ectodermal defect-cleft lip/cleft palate (AEC) syndrome is one of the variants of ectodermal dysplasia. It is an autosomal dominant disorder comprising of ankyloblepharon, ectodermal dysplasia, and cleft palate or cleft lip. In 1976, it wasfirst described by Hay and Wells, therefore also known as Hay-Wells syndrome. The characteristic feature of this syndrome is "ankyloblepharon filiforme adnatum", which refers to the partial thickness fusion of the eyelid margins. The "curly hair-ankyloblepharon-nail disease (CHAND) syndrome" is a clinical variant of AEC syndrome...
January 2018: International Journal of Trichology
https://www.readbyqxmd.com/read/29439412/congenital-vomer-agenesis-a-rare-and-poorly-understood-condition-revealed-by-cone-beam-ct
#12
David Jun Yan, Vincent Lenoir, Sibylle Chatelain, Salvatore Stefanelli, Minerva Becker
Isolated congenital vomer agenesis is a very rare and poorly understood condition. In the context of dental work-up by cone-beam computed tomography (CBCT), the explored volume of the facial bones occasionally reveals incidental abnormalities. We report the case of a 13-year old Caucasian female who underwent CBCT for the pre-treatment evaluation of primary failure of tooth eruption affecting the permanent right upper and inferior molars. CBCT depicted a large defect of the postero-inferior part of the nasal septum without associated soft tissue abnormality and without cranio-facial malformation or cleft palate...
February 10, 2018: Diagnostics
https://www.readbyqxmd.com/read/29437830/face-morphogenesis-is-promoted-by-pbx-dependent-emt-via-regulation-of-snail1-during-frontonasal-prominence-fusion
#13
Marta Losa, Maurizio Risolino, Bingsi Li, James Hart, Laura Quintana, Irina Grishina, Hui Yang, Irene F Choi, Patrick Lewicki, Sameer Khan, Robert Aho, Jennifer Feenstra, C Theresa Vincent, Anthony M C Brown, Elisabetta Ferretti, Trevor Williams, Licia Selleri
Human cleft lip with or without cleft palate (CL/P) is a common craniofacial abnormality caused by impaired fusion of the facial prominences. We have previously reported that in the mouse embryo epithelial apoptosis mediates fusion at the seam where the prominences coalesce. Here, we show that apoptosis alone is not sufficient to remove the epithelial layers. We observed morphological changes in the seam epithelia, intermingling of cells of epithelial descent into the mesenchyme, and molecular signatures of Epithelial-Mesenchymal-Transition (EMT)...
February 5, 2018: Development
https://www.readbyqxmd.com/read/29437520/timing-of-furlow-palatoplasty-for-patients-with-submucous-cleft-palate
#14
Russell E Ettinger, Theodore A Kung, Natalie Wombacher, Mary Berger, M Haskell Newman, Steven R Buchman, Steven J Kasten
BACKGROUND: Submucous cleft palate (SMCP) is the most common form of cleft involving the posterior palate, resulting in variable degrees of velar dysfunction and speech disturbance. Although early surgical intervention is indicated for patients with true cleft palate, the indications for palatoplasty and timing of surgical intervention for patients with SMCP remain controversial. METHODS: Twenty-nine patients with SMCP were retrospectively reviewed. Patients treated with Furlow palatoplasty were dichotomized based on patient age at the time of surgical correction into early speech development and late speech development...
March 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29437516/ideal-versus-late-secondary-alveolar-bone-graft-surgery-a-bone-thickness-cone-beam-computed-tomographic-assessment
#15
Michele Alves Garcia, Marilia Yatabe, Thais Ustulin Fuzer, Adriana Maria Calvo, Ivy Kiemle Trindade-Suedam
OBJECTIVE: To compare the bone morphology after secondary alveolar bone graft surgery (SABG) performed before and after permanent canine eruption. DESIGN: Cross-sectional study. SETTING: Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, SP, Brazil. PATIENTS: 25 cone-beam computed tomography (CBCT) scans of complete unilateral cleft lip and palate (CLP) individuals who underwent SABG before or after eruption of the permanent canine taken 2 and 6 months (T1 and T2) after SAGB, resulting in 50 CBCT scans...
March 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29437515/association-between-crispld2-polymorphisms-and-the-risk-of-nonsyndromic-clefts-of-the-lip-and-or-palate-a-meta-analysis
#16
Xing Ge, Qiao-Mei Shi, Zhen Ding, Qiang Ju, Hui Wang, Qi Wang, Meng-Xue Li, Gang Chen, Heng-Xue Wang, Li-Chun Xu
OBJECTIVE: Nonsyndromic clefts of the lip and/or palate (NSCL/P) are one of the most common polygenic diseases. Recently, many studies focused on the association between CRISPLD2 polymorphisms and NSCL/P risk. However, some studies have shown opposite results. In this study, meta-analysis was used to confirm whether CRISPLD2 polymorphism was associated with NSCL/P, and the possible mechanism between CRISPLD2 and NSCL/P was explored. METHODS: Relevant studies were conducted on PubMed, Ovid, EBSCO, CINAHL, FMRS, Web of Science, CNKI, and Wanfang databases from their inception up to June 31, 2016...
March 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29437513/cleft-lip-and-palate-in-charge-syndrome-phenotypic-features-that-influence-management
#17
Kathryn V Isaac, Ingrid M Ganske, Stephen A Rottgers, So Young Lim, John B Mulliken
OBJECTIVE: Infants with syndromic cleft lip and/or cleft palate (CL/P) often require more complex care than their nonsyndromic counterparts. Our purpose was to (1) determine the prevalence of CL/P in patients with CHARGE syndrome and (2) highlight factors that affect management in this subset of children. DESIGN: This is a retrospective review from 1998 to 2016. PATIENTS: Patients with CHARGE syndrome were diagnosed clinically and genetically...
March 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29437512/observation-of-cleft-palate-in-an-individual-with-sox11-mutation-indication-of-a-role-for-sox11-in-human-palatogenesis
#18
Umair Khan, Ddd Study, Eleanor Baker, Jill Clayton-Smith
OBJECTIVE: Point mutations and deletions within the SOX11 gene have recently been described in individuals with a rare variant of Coffin-Siris syndrome, OMIM 615866, an intellectual disability syndrome with associated features of nail hypoplasia, microcephaly, and characteristic facial features including a wide mouth and prominent lips. PARTICIPANT: We describe a further patient with a mutation in SOX11 and phenotype resembling mild Coffin-Siris syndrome. RESULTS: This boy had a cleft palate, a feature not previously seen in other patients with SOX11 mutations...
March 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29437509/3d-printed-models-of-cleft-lip-and-palate-for-surgical-training-and-patient-education
#19
Pang-Yun Chou, Rami R Hallac, Ellen Shih, Jenny Trieu, Anjani Penumatcha, Priyanka Das, Clark A Meyer, James R Seaward, Alex A Kane
BACKGROUND: Sculpted physical models and castings of the anatomy of cleft lip and palate are used for parent, patient, and trainee education of cleft lip and palate conditions. In this study, we designed a suite of digital 3-dimensional (3D) models of cleft lip and palate anatomy with additive manufacturing techniques for patient education. METHODS: CT scans of subjects with isolated cleft palate, unilateral and bilateral cleft lip and palate, and a control were obtained...
March 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29437508/what-matters-to-patients-with-cleft-lip-and-or-palate-an-international-qualitative-study-informing-the-development-of-the-cleft-q
#20
Karen W Y Wong Riff, Elena Tsangaris, Timothy E E Goodacre, Christopher R Forrest, Jessica Lawson, Andrea L Pusic, Anne F Klassen
OBJECTIVE: The goal of treatment for individuals with cleft lip and/or palate (CL/P) is to improve physical, psychological, and social health. Outcomes of treatment are rarely measured from the patient's perspective. The aim of the study was to develop a conceptual framework for a patient-reported outcome (PRO) instrument for individuals with clefts (CLEFT-Q) by developing an in-depth understanding of issues that individuals consider to be important. DESIGN: The qualitative methodology of interpretive description was used...
March 2018: Cleft Palate-craniofacial Journal
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