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https://www.readbyqxmd.com/read/29777780/pierre-robin-sequence-a-comprehensive-narrative-review-of-the-literature-over-time
#1
Amerigo Giudice, Selene Barone, Kahina Belhous, Anne Morice, Véronique Soupre, Francesco Bennardo, Nathalie Boddaert, Marie-Paule Vazquez, Véronique Abadie, Arnaud Picard
Pierre Robin syndrome (PRS) is characterized of a triad of clinical signs: micrognathia, glossoptosis and obstruction of the upper airways frequently associated with palatal cleft. It is a heterogenic pathological entity and it can be found as isolated disease (nsPRS) or in association with other syndromes (sPRS), with more pronounced symptoms and systemic involvement. This review aims to summarize the principal features of PRS, analysing the different aspects of the disease. Epidemiological data highlight incidence, severity and mortality of PRS; pathophysiological mechanism reports the etiology and pathogenesis of the disease distinguishing between isolated and syndromic form...
May 16, 2018: Journal of Stomatology, Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29775557/symptoms-of-obstructive-sleep-apnea-nasal-obstruction-and-enuresis-in-children-with-nonsyndromic-cleft-lip-and-palate-a-prevalence-study
#2
Marilyse de Bragança Lopes Fernandes, Alícia Graziela Noronha Silva Salgueiro, Eliete Janaína Bueno Bighetti, Ivy Kiemle Trindade-Suedam, Inge Elly Kiemle Trindade
OBJECTIVE: To estimate the prevalence of symptoms of obstructive sleep apnea (OSA), nasal obstruction, and enuresis in children with nonsyndromic unilateral cleft lip and palate. DESIGN: Prospective cross-sectional study. SETTING: Referral care center. PARTICIPANTS: One hundred seventy-four children aged 6 to 12 years of both genders. INTERVENTIONS: Symptoms of OSA and nasal obstruction were investigated by analysis of scores obtained by the Sleep Disturbance Scale for Children (SDSC) and Congestion Quantifier (CQ-5)...
January 1, 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29773124/otolaryngology-and-the-global-burden-of-disease
#3
REVIEW
James E Saunders, Zane Rankin, Kathryn Y Noonan
The Global Burden of Disease (GBD) project provides longitudinal analysis of the global burden of otolaryngologic diseases by measuring the all-cause mortality, years of life lost, the years of life lived with disability, and disability-adjusted life years. Hearing loss burden is assessed overall and as sequelae of other diseases, such as otitis media or meningitis. Using these measures, we can appreciate the high prevalence and disability related to hearing loss globally. Other otolaryngologic diseases that contribute to the GBD include otitis media, cleft lip and palate, head and neck cancer, facial trauma, and oral disorders...
June 2018: Otolaryngologic Clinics of North America
https://www.readbyqxmd.com/read/29771845/unilateral-buccinator-flap-for-lengthening-of-short-palate
#4
Mohammad-Esmaiil Hassani, Noor-Ahmad Latifi, Hamid Karimi, Mohammad Khakzad
BACKGROUND: Velopharyngeal insufficiency is one of the most frequent complications after cleft palate repair. PURPOSE: To evaluate the results and complications of unilateral Buccinator flap (BMF) in velopharyngeal insufficiency. MATERIALS AND METHODS: During 4 years the authors performed unilateral BMF in all short palates. Age, sex, demographic data, length of palate, cause of short palate, nasopharyngoscopy and videofluroscopy results, hyper nasality, nasal escape, nasal emission, nasal fluid leak, speech evaluation and results, outcome and complications of the treatment were surveyed before surgery and in 1, 3, 6 months after treatment...
May 15, 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29771834/family-functions-and-life-quality-of-parents-of-children-with-cleft-lip-and-palate
#5
Belma I Aslan, Ayşe Gülşen, Şadiye B Tirank, Kemal Findikçioğlu, F Deniz Uzuner, Hakan Tutar, Neslihan Üçüncü
OBJECTIVE: This study was designed to identify variables affecting family functions and life quality of parents with cleft lip and/or palate children. MATERIALS AND METHODS: Family Assesment Scale (FAS) and short form of World Health Organization quality of life (WHOQOL-BREF-TR) were used to measure family functions and life quality of parents. Questionnaire Forms were given to 146 parents: 74 having cleft lip and/or palate children (cleft-group), and the other 72 with healthy children (control-group)...
May 15, 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29764722/middle-ear-disease-in-children-with-cleft-palate
#6
REVIEW
Tulasi Kota Karanth, Kenneth R Whittemore
OBJECTIVE: The objective of this review is to summarize all aspects of middle ear diseases in children with cleft palate (CP). METHODS: PubMed, Scopus, The Cumulative Index to Nursing and Allied Health Literature (CINAHL) and The Cochrane Library were searched for English-language randomized control trials (RCTs), meta-analyses, systematic reviews and observational studies published through 31st July 2017. RESULTS: Epidemiology and pathogenesis of middle ear diseases in children with cleft palate have been discussed in this review...
May 12, 2018: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/29764576/-nipbl-gene-mutations-in-two-children-with-cornelia-de-lange-syndrome
#7
Yun-Jing Zhao, Hong-Wei Ma
Both children (one boy and one girl) experienced disease onset in infancy and visited the hospital due to growth retardation. They had unusual facies including thick hair, arched and confluent eyebrows, long and curly eyelashes, short nose, and micrognathia. Patient 1 had congenital heart disease (atrial septal defect and pulmonary stenosis) and special dermatoglyph (a single palmar crease). Patient 2 had cleft palate and moderate-to-severe deafness. Clinical features suggested Cornelia de Lange syndrome in both children...
May 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29762437/primary-premaxillary-ostectomy-and-setback-dealing-with-the-fly-away-premaxilla
#8
Rana Farhadi, Robert D Wallace
OBJECTIVE: This study aimed to analyze our outcomes of primary premaxillary ostectomy and setback combined with lip adhesion as the first stage in repair of the bilateral cleft lip with fly-away premaxilla. METHODS: This retrospective study included all patients who required primary premaxillary setback by a single surgeon to achieve successful lip repair between 2011 and 2017 at a tertiary children's hospital. All patients had bilateral cleft lip and complete cleft palate with significant premaxillary protrusion...
May 14, 2018: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/29762322/maternal-folic-acid-supplementation-and-the-risk-of-oral-clefts-in-offspring
#9
Arezoo Jahanbin, Elaheh Shadkam, Hamid Heidarian Miri, Alireza Sarraf Shirazi, Mostafa Abtahi
INTRODUCTION: There is controversial evidence from the literature regarding the protective effect of folic acid supplementation during pregnancy against orofacial clefts. The authors undertook this meta-analysis to assess whether folate supplementation during pregnancy can reduce the risk of nonsyndromic cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO) in infants. METHODS: Eligible articles were identified by searching databases, including PubMed, Medline, Scopus, ISI (Web of Knowledge) to September 2017...
May 14, 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29762320/electromyographic-activity-of-the-masseter-and-temporal-muscles-in-patients-with-nonsyndromic-complete-unilateral-cleft-lip-and-palate-2-stage-versus-1-stage-palate-repair
#10
Anelise Sabbag, Rafael Denadai, Cesar Augusto Raposo-Amaral, Celso Luiz Buzzo, Cassio Eduardo Raposo-Amaral, Mirian H Nagae
OBJECTIVE: To assess the electromyographic activity of the masseter and temporal muscles in cleft patients who underwent 1-stage palate repair versus 2-stage palate repair. METHODS: Thirty-two patients with nonsyndromic complete unilateral cleft lip and palate operated by 2 different protocols for palate repair, 1-stage (group 1, n = 16) versus 2-stage with delayed hard palate closure (group 2, n = 16) were available in the retrospective longitudinal study...
May 14, 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29758292/novel-truncating-ppm1d-mutation-in-a-patient-with-intellectual-disability
#11
Joseph Porrmann, Andreas Rump, Karl Hackmann, Nataliya Di Donato, Anne-Karin Kahlert, Johannes Wagner, Arne Jahn, Ines Eger, Monika Flury, Evelin Schrock, Andreas Tzschach, Laura Gieldon
Truncating mutations in the last and penultimate exons of the PPM1D gene were recently described as a cause for mild to severe intellectual disability in fourteen patients. Feeding difficulties, periods of fever and vomiting as well as a high pain threshold were described as additional characteristic features and the disorder was subsequently termed "intellectual developmental disorder with gastrointestinal difficulties and high pain threshold (IDDGIP)" in the OMIM database (MIM # 617450). Here we report on an additional patient carrying a novel de novo truncating mutation NM_003620...
May 11, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29754832/ondansetron-in-pregnancy-and-the-risk-of-congenital-malformations-a-systematic-review
#12
Melissa Lavecchia, Radha Chari, Sandra Campbell, Sue Ross
OBJECTIVE: Ondansetron, not approved for use in pregnancy, is increasingly being prescribed for nausea and vomiting in pregnancy and hyperemesis gravidarum. A number of recent lawsuits have highlighted the possibility that ondansetron may cause congenital malformations. The aim of this study was to systematically review epidemiological evidence on the potential association of prenatal exposure to ondansetron and congenital malformations. METHODS: Systematic searches in Medline and Embase were performed in June 2017 using controlled vocabulary and key words, and references of search results were reviewed...
May 10, 2018: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/29753919/epidemiology-of-orofacial-clefts-in-a-danish-county-over-35-years-before-and-after-implementation-of-a-prenatal-screening-programme-for-congenital-anomalies
#13
Eva Berenth Paaske, Ester Garne
In 2004 the Danish National Board of Health changed its screening recommendations. Since 2005 a first trimester screening for Down syndrome and a prenatal ultrasound screening for congenital anomalies in the second trimester of pregnancy has been offered to all pregnant women. The aim of this study was to describe the prevalence of cleft lip with or without cleft palate and cleft palate in a Danish area and to describe associated anomalies and the development in prenatal diagnosis over time. The study was based on data from the EUROCAT Registry for Funen County...
May 10, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29752652/disruption-of-the-responsible-gene-in-a-phosphoglucomutase-1-deficiency-patient-by-homozygous-chromosomal-inversion
#14
Katsuyuki Yokoi, Yoko Nakajima, Tamae Ohye, Hidehito Inagaki, Yoshinao Wada, Tokiko Fukuda, Hideo Sugie, Isao Yuasa, Tetsuya Ito, Hiroki Kurahashi
Phosphoglucomutase 1 (PGM1) deficiency is a recently defined disease characterized by glycogenosis and a congenital glycosylation disorder caused by recessive mutations in the PGM1 gene. We report a case of a 12-year-old boy with first-cousin parents who was diagnosed with a PGM1 deficiency due to significantly decreased PGM1 activity in his muscle. However, Sanger sequencing revealed no pathogenic mutation in the PGM1 gene in this patient. As this case presented with a cleft palate in addition to hypoglycemia and elevated transaminases and creatine kinase, karyotyping was performed and identified homozygous inv(1)(p31...
May 12, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29752048/assessment-of-regional-asymmetry-of-the-face-before-and-after-surgical-correction-of-unilateral-cleft-lip
#15
Dhelal Al-Rudainy, Xiangyang Ju, Steve Stanton, Felicity V Mehendale, Ashraf Ayoub
This study was carried out on 26 unilateral cleft lip and palate (UCLP) cases with mean age 3.6 ± 0.7 months.3D facial images were captured for each infant 2-3 days before the repair of cleft lip and at 4 months following surgery at a mean age of 8.2 ± 1.8 months, using a stereophotogrammetry imaging system. An iterative closest point (ICP) algorithm was used to superimpose the 3D facial model to its mirror image using VRMesh software. After the superimposition, the face model was divided into seven anatomical regions...
April 6, 2018: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/29750726/slc22a5-mutations-in-a-patient-with-systemic-primary-carnitine-deficiency-and-cleft-palate-successful-perioperative-management
#16
Ching-Wei Hu, Ching-Hsuan Hu, Yah-Huei Wu-Chou, Lun-Jou Lo
BACKGROUND: Primary systemic carnitine deficiency (SCD) is an autosomal-recessive disorder caused by SLC22A5 gene mutation resulting in defective cellular carnitine transporter organic cation transporter 2. Defective carnitine transporter causes renal carnitine wasting and low serum carnitine. Carnitine is an essential cofactor for the transportation of long-chain fatty acids into the mitochondria. Lacking of carnitine may cause metabolic decompensation and sudden death when the patient is exposed to prolonged fasting before an operation...
May 10, 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29750723/outcomes-of-sphincter-pharyngoplasty-in-the-cleft-population
#17
Ritwik Grover, Addison Barnett, Antonio Rampazzo, Frank Papay, Bahar Bassiri Gharb
INTRODUCTION: Sphincter pharyngoplasty (SP) is becoming increasingly popular for correction of velopharyngeal insufficiency (VPI) after cleft palate repair because of high success rate, low incidence of postoperative obstructive sleep apnea (OSA), and ease of revision in case of failure. This study is a meta-analysis of SP outcomes, reasons for failure, and revision strategies. METHODS: A comprehensive review of the literature on SP outcomes was conducted. Sphincter pharyngoplasty failure was defined as persistent hypernasality, incomplete velopharyngeal port (VP) closure on instrumental evaluation with concomitant VPI, or nonresolving hyponasality and/or OSA persisting >3 months after surgery...
May 10, 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29750571/outcome-measures-in-ulcp-the-modified-5-year-olds-index-development-and-reliability
#18
Tarun K Mittal, Anthony J Ireland, Nikki E Atack, Sam D Leary, Joyce I Russell, Scott A Deacon, Andy R Ness, Jonathan R Sandy
OBJECTIVE: Can we reliably discriminate severity within the existing categories of the 5-Year-Olds' Index? DESIGN: Retrospective method comparison and development study. SETTING: School of Oral and Dental Science, University of Bristol. METHODS: Dental study models of 5-year-olds with unilateral cleft lip and palate (UCLP) were collected from the archives of 2 national cleft surveys (n = 351). One hundred randomly selected models were ranked to construct the modified 5-Year-Olds' Index and also scored using a visual analogue scale (VAS)...
January 1, 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29750569/a-standardized-protocol-for-the-prospective-follow-up-of-cleft-lip-and-palate-patients
#19
Negar Salimi, Aleksejūnienė Jolanta, Yen Edwin, Loo Angelina
OBJECTIVE: To develop a standardized all-encompassing protocol for the assessment of cleft lip and palate patients with clinical and research implications. METHOD: Electronic database searches were conducted and 13 major cleft centers worldwide were contacted in order to prepare for the development of the protocol. In preparation, the available evidence was reviewed and potential fistula-related risk determinants from 4 different domains were identified. RESULTS: No standardized protocol for the assessment of cleft patients could be found in any of the electronic database searches that were conducted...
January 1, 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29746155/presurgical-nasal-molding-with-a-nasal-spring-in-patients-with-mild-to-moderate-nasal-deformity-with-incomplete-unilateral-cleft-lip-with-or-without-cleft-palate
#20
Supakit Peanchitlertkajorn
OBJECTIVE: Traditional nasoalveolar molding (NAM) requires steep learning curve for clinicians and significant compliance from parents. Nasal springs have been developed by the author to simplify presurgical nasal molding. This article presents the design, construction, and application of the spring. The treatment goal is to improve nasal deformity prior to primary repair in infants born with incomplete unilateral cleft lip with or without cleft palate. METHOD: The design, fabrication, and utility of the nasal spring are described...
January 1, 2018: Cleft Palate-craniofacial Journal
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