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https://www.readbyqxmd.com/read/29688589/evaluating-the-effect-of-nicotinic-cholinergic-receptor-genes-on-the-risk-of-nonsyndromic-cleft-lip-with-or-without-cleft-palate
#1
Mengying Wang, Dongjing Liu, Holger Schwender, Hong Wang, Ping Wang, Zhibo Zhou, Jing Li, Tao Wu, Hongping Zhu, Terri H Beaty
OBJECTIVE: Multiple studies have suggested nonsyndromic cleft lip with or without cleft palate (NSCL/P) and lung cancer may have common genetic etiology. Previous studies have showed genetic variants in nicotinic cholinergic receptor genes (CHRNs) may influence risk of lung cancer. We aimed to explore the effect of CHRNs on risk of NSCL/P considering gene-gene (GxG) interaction for these genes. SUBJECTS AND METHODS: We selected 120 markers in 14 CHRNs to test for GxG interaction using 806 Chinese case-parent trios recruited from an international consortium established for a GWAS of oral clefts...
April 24, 2018: Oral Diseases
https://www.readbyqxmd.com/read/29684306/does-sphenopalatine-ganglion-block-improve-pain-control-and-intraoperative-hemodynamics-in-children-undergoing-palatoplasty-a-randomized-controlled-trial
#2
Anantanarayanan Parameswaran, Muruganand V Ganeshmurthy, Yashoda Ashok, Manikandhan Ramanathan, Anthony F Markus, Hermann F Sailer
PURPOSE: Children undergoing cleft palate repair have pain, dysphagia, and wound irritation in the immediate postoperative phase that may compromise surgical outcomes. This trial evaluates the efficacy of the sphenopalatine ganglion block (SPGB) in optimizing intraoperative hemodynamics and postoperative analgesia in children undergoing primary palatoplasty. MATERIALS AND METHODS: The study was designed as a prospective, double-blind, randomized controlled trial comparing the use of SPGB with general anesthesia (GA) (study group) versus the use of only GA (control group)...
March 30, 2018: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29683526/homozygote-c-c-at-rs12543318-was-risk-factor-for-non-syndromic-cleft-lip-only-from-western-han-chinese-population
#3
Bi-He Zhang, Ning Huang, Jia-Yu Shi, Bing Shi, Zhong-Lin Jia
Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a complex disorder, it results from both of the genetic modifiers and environmental factors, with genetic modifiers contributed to it more than environmental factors. GWASs studies made great progress in identifying the candidate genes for NSCL/P, but the findings needs to be replicated in other populations. In this study, we selected eleven SNPs from recent GWASs and GWAS meta-analysis to investigate their associations among 308 NSCL/P trios (134 non-syndromic cleft lip only (NSCLO) trios and 174 non-syndromic cleft lip with cleft palate (NSCLP) trios) from Han Chinese population...
April 23, 2018: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/29682688/what-is-the-benefit-of-using-amniotic-membrane-in-oral-surgery-a-comprehensive-review-of-clinical-studies
#4
REVIEW
M Fénelon, S Catros, J C Fricain
OBJECTIVES: Since its first use for the reconstruction of tissue defects in the oral cavity in 1985, human amniotic membrane (hAM) has been widely studied in the field of oral surgery. Despite the growing number of publications in this field, there is no systematic review or meta-analysis concerning its clinical applications, outcome assessments, and relevance in oral surgery. The aim of this review is to provide a thorough understanding of the potential use of hAM for soft and hard tissue reconstruction in the oral cavity...
April 22, 2018: Clinical Oral Investigations
https://www.readbyqxmd.com/read/29681105/lethal-persistent-pulmonary-hypertension-of-the-newborn-in-bohring-opitz-syndrome
#5
Masaya Kibe, Satoshi Ibara, Hidehito Inagaki, Takema Kato, Hiroki Kurahashi, Toshiro Ikeda
Bohring-Opitz syndrome (BOS) is a rare disease with a number of characteristic features, including hypertelorism, prominent metopic suture, exophthalmos, cleft palate, abnormal posture, and developmental retardation. Here, we report a BOS patient presenting with lethal persistent pulmonary hypertension of the newborn (PPHN) and inspiratory respiratory failure. The female infant was treated with nitric oxide and vasodilator, which did not improve her condition. The inspiratory respiratory failure required management with deep sedation...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29679736/para-commissural-cleft-of-the-lower-lip-a-first-case-described-in-the-literature
#6
Julie Chauvel-Picard, Arnaud Gleizal
We described the first case of para-commissural cleft of the lower lip in a 2 year-old child. He is from a trichorionic triamniotic triplet pregnancy after ovarian stimulation. He has no history except a selective fetal reduction of the mother. We correct this cleft of the lower lip with a double plasty of Malek. The functional and aesthetic result is satisfactory. This particular cleft can not be explained by the embryological theory. We favor two hypothesis to explain this anomaly: a vascular origin with the stapedial artery and the selective fetal reduction...
April 18, 2018: Journal of Stomatology, Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29679588/growth-and-development-of-craniofacial-structures-in-patients-at-different-ages-with-unrepaired-submucous-cleft-palate
#7
Congcong Cao, Xue Xu, Qian Zheng, Bing Shi, Jingtao Li, Yan Wang
PURPOSE: Submucous cleft palate (SMCP) is a particular subtype of cleft palate deformity; research related to the craniofacial features of patients with SMCP is comparatively rare. The study objective was to perform a cephalometric comparison of the craniofacial features of patients with SMCP and non-cleft controls at different ages. MATERIALS AND METHODS: The sample in this cross-sectional study was composed of 2 groups: SMCP patients and non-cleft controls. The primary predictor variables were study group (cleft and non-cleft) and age...
March 28, 2018: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29679585/personalized-bioactive-nasal-supports-for-postoperative-cleft-rhinoplasty
#8
Christen J Boyer, Jennifer E Woerner, Christopher Galea, Corbin A Gatlin, Ghali E Ghali, David K Mills, Jeffery A Weisman, Jonathan S Alexander
PURPOSE: After cleft lip and palate surgical procedures, patients often need nostril supports to help the reconstructed nostrils retain their shape during healing. Many postoperative nasal stents use a one-size-fits-all approach, in which a standard rubber tube retainer is trimmed and used to support the healing nares. The purpose of this study was to examine photogrammetry and 3-dimensional (3D) printing as a fabrication tool for postoperative patient-specific nasal supports that can be loaded with bioactive agents for localized delivery...
March 28, 2018: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29672335/the-impact-of-surgical-volume-on-outcomes-and-cost-in-cleft-repair-a-kids-inpatient-database-analysis
#9
Alexandra Bucknor, Anmol Chattha, Winona Wu, Sabine Egeler, Klaas Ultee, Salim Afshar, Samuel J Lin
BACKGROUND: Centralization of specialist services, including cleft service delivery, is occurring worldwide with the aim of improving the outcomes. This study examines the relationship between hospital surgical volume in cleft palate repair and outcomes. METHODS: A retrospective analysis of the Kids' Inpatient Database was undertaken. Children 3 years or younger undergoing cleft palate repair in 2012 were identified. Hospital volume was categorized by cases per year as low volume (LV; 0-14), intermediate volume (IV; 15-46), or high volume (HV; 47-99); differences in complications, hospital costs, and length of stay (LOS) were determined by hospital volume...
April 2018: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/29672164/trends-in-enteral-access-placement-among-patients-with-oral-clefts-evaluation-of-46-617-patient-admissions
#10
Thanapoom Boonipat, Nicholas S Adams, Allen L Shoemaker, Robert J Mann, John W Polley, John A Girotto
OBJECTIVE: It is well known that patients with oral clefts have challenges with feeding. Enteral feeding access, in the form of gastrostomy, is often utilized to supplement or replace oral intake. Although commonly performed, these procedures have reported complication rates as high as 83%. We intend to discover rates of enteral access in patients with oral clefts and report-related outcomes. DESIGN: The Healthcare Cost Utilization Project Kids' Inpatient Database from 2000 to 2012 was analyzed using patients with oral clefts and enteral access procedures...
January 1, 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29666339/phenotypic-characterization-of-derivative-22-syndrome-case-series-and-review
#11
Deepti Saxena, Priyanka Srivastava, Moni Tuteja, Kausik Mandal, Shubha R Phadke
Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males. In 99% of the cases, one of the parents is a carrier of balanced translocation between chromosomes 11 and 22. It occurs due to malsegregation of the gametes with 3:1 segregation. In this case series, we describe four patients with diverse manifestations of this condition...
March 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29665339/patterns-of-orofacial-clefting-in-new-york-city-from-1983-to-2010-trends-by-racial-background-birthplace-and-public-health-strategies
#12
Sydney C Butts, Simone Reynolds, Lyuba Gitman, Prayag Patel, Michael Joseph
OBJECTIVE: To determine the role of racial background, public health initiatives, and residence on the prevalence of orofacial clefts (OFCs) in New York City (NYC). DESIGN/METHODS: Retrospective review of OFC cases from the New York State Congenital Malformations Registry. PATIENTS/PARTICIPANTS: Patients born with an OFC and all live births to mothers residing in NYC between 1983 and 2010. MAIN OUTCOME MEASURES: Orofacial cleft birth prevalence by cleft type, race, and borough of maternal residence for each year and by time period around the implementation of public health interventions including folate supplementation...
January 1, 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29665338/parental-experience-of-sleep-disordered-breathing-in-infants-with-cleft-palate-comparing-parental-and-clinical-priorities
#13
Karen Davies, Yin-Ling Lin, Anne-Marie Glenny, Peter Callery, Iain A Bruce
OBJECTIVE: To identify outcomes relating to sleep-disordered breathing (SDB) that are relevant to parents, during the early weeks of caring for infants with cleft palate (CP), and compare these with clinical outcomes identified in a systematic search of research literature. DESIGN: A qualitative study using telephone/face-to-face interviews with parents explored their understanding of breathing and respiratory effort in infants with CP. SETTING: Care provided by 3 specialist cleft centers in the United Kingdom, with study conducted in parents' homes...
January 1, 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29664137/msh-homeobox-1-polymorphisms-and-the-risk-of-non-syndromic-orofacial-clefts-a-meta-analysis
#14
Min Gu, Yan Zhang, Hualian Liu, Jue Liu, Danxia Zhu, Xu Yang
MSH homebox 1 (MSX1) is a susceptibility gene for non-syndromic orofacial clefts (NSOCs). Here, a meta-analysis was conducted to assess their associations. A systematic search of PubMed to 1 September 2017, was performed to retrieve all eligible studies. Odds ratios (ORs) were used to calculate the associations. The stability of the results was evaluated by sensitivity analysis. Publication bias was assessed using Begg's funnel plots and the Egger test. In silico Msx1 expression during early mouse craniofacial development was evaluated by the Gene Expression Omnibus...
April 17, 2018: European Journal of Oral Sciences
https://www.readbyqxmd.com/read/29661814/psychometric-findings-and-normative-values-for-the-cleft-q-based-on-2434-children-and-young-adult-patients-with-cleft-lip-and-or-palate-from-12-countries
#15
Anne F Klassen, Karen Wy Wong Riff, Natasha M Longmire, Asteria Albert, Gregory C Allen, Mustafa Asim Aydin, Stephen B Baker, Stefan J Cano, Andrew J Chan, Douglas J Courtemanche, Marieke M Dreise, Jesse A Goldstein, Timothy E E Goodacre, Karen E Harman, Montserrat Munill, Aisling O Mahony, Mirta Palomares Aguilera, Petra Peterson, Andrea L Pusic, Rona Slator, Mia Stiernman, Elena Tsangaris, Sunil S Tholpady, Federico Vargas, Christopher R Forrest
BACKGROUND: Patients with cleft lip and/or palate can undergo numerous procedures to improve appearance, speech, dentition and hearing. We developed a cleft-specific patient-reported outcome instrument to facilitate rigorous international measurement and benchmarking. METHODS: Data were collected from patients aged 8-29 years with cleft lip and/or palate at 30 hospitals in 12 countries between October 2014 and November 2016. Rasch measurement theory analysis was used to refine the scales and to examine reliability and validity...
April 16, 2018: CMAJ: Canadian Medical Association Journal, Journal de L'Association Medicale Canadienne
https://www.readbyqxmd.com/read/29661170/-people-look-and-ask-lots-of-questions-caregivers-perceptions-of-healthcare-provision-and-support-for-children-born-with-cleft-lip-and-palate
#16
Phumzile Hlongwa, Laetitia C Rispel
BACKGROUND: Clefting of the lip and/or palate (CL/P) is amongst the five most common birth defects reported in South Africa. The emotional impact on parents at the birth of their new-born with CL/P could affect parent-child relationships. In light of insufficient scholarly attention parental experiences and perceptions, this study reports on caregivers' perceptions of health service provision and support for children born with cleft lip and palate in South Africa. METHODS: The study setting consisted of 11 academic hospital centres situated in six of South Africa's nine provinces...
April 16, 2018: BMC Public Health
https://www.readbyqxmd.com/read/29656824/ductus-arteriosus-aneurysm-case-report-and-review-of-the-literature
#17
E Xu, J-G Delpey, E Finel, A Pennanéach
We report the case of an infant boy born at 39 weeks and 5 days who presented a cleft lip and palate. During the assessment to detect associated malformations, cardiac auscultation revealed a systolic heart murmur. Echocardiography and subsequent thoracic computed tomography angiography identified an aneurysm of the ductus arteriosus. Ductus arteriosus aneurysm, a complicated form of patent ductus arteriosus, may not be as rare as once considered. A clear majority of ductus arteriosus aneurysms are asymptomatic and physiologically resolve after birth...
April 12, 2018: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29653001/-genetic-analysis-of-two-fetuses-with-congenital-heart-defects-and-3q-microdeletion
#18
Wei Long, Jiandong Gu, Jun Ouyang, Saiyu Jia, Bin Zhang, Jianbin Liu, Bin Yu
OBJECTIVE: To determine the nature of genomic copy number variations (CNVs) in two fetuses with congenital heart defects (CHD) and explore the correlation between 3q microdeletions and CHD. METHODS: Genomic DNA was extracted from fetal umbilical cord tissue, and chromosome copy number variations were detected by low coverage whole genome sequencing. RESULTS: Both fetuses had microdeletions of the long arm of chromosome 3. Fetus 1 had ventricular septal defect, cleft lip and palate, and a 1...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29652906/mechanical-analyses-of-critical-surgical-maneuvers-in-the-correction-of-cleft-lip-nasal-deformity
#19
Hanyao Huang, Yeping Li, Xiangyou Luo, Xu Cheng, Bing Shi, Jingtao Li
The relapse of nasal deformity is a challenge for modern correction of cleft lip. A comprehensive understanding in the biomechanical perspective of both the formation and correction of the cleft lip nasal deformity would lead to improved stability of the corrective outcome. In this study, a finite element model of secondary cleft lip nasal deformity was constructed, on which two critical corrective maneuvers were mimicked in the form of force-loading. The intercrural suture was simulated by a force loaded at the intermediate crus of the alar cartilage directing anteriorly and medially, and the suture suspending the alar cartilage to the upper lateral cartilage was simulated by a force loaded at the lateral crus directing superiorly and medially...
2018: PloS One
https://www.readbyqxmd.com/read/29652768/effect-of-one-stage-versus-two-stage-palatoplasty-on-hypernasality-and-fistula-formation-in-children-with-complete-unilateral-cleft-lip-and-palate-a-randomized-controlled-trial
#20
Rajgopal R Reddy, Srinivas Gosla Reddy, Anusha Chilakalapudi, Swapnika Kokali, Ewald M Bronkhorst, Ann W Kummer, Stefaan J Bergé, Anne Marie Kuijpers-Jagtman
BACKGROUND: Is one or two-stage palatoplasty more effective preventing fistula formation and hypernasality in patients with complete unilateral cleft lip and palate? METHODS: This parallel blocked randomized controlled trial included 100 patients with non-syndromic complete unilateral cleft lip and palate with a repaired cleft lip, divided into 2 groups of 50 each. Group A had one-stage palatoplasty at age 12-13 months while group B had two-stage palatoplasty with soft palatoplasty at age 12-13 months and hard palatoplasty at age 24-25 months...
March 28, 2018: Plastic and Reconstructive Surgery
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