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Choanal atresia

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https://www.readbyqxmd.com/read/27920635/clinical-and-molecular-characterisation-of-children-with-pierre-robin-sequence-and-additional-anomalies
#1
Jessie X Xu, Nicky Kilpatrick, Naomi L Baker, Anthony Penington, Peter G Farlie, Tiong Yang Tan
Pierre Robin Sequence (PRS) is usually classified into syndromic and nonsyndromic groups, with a further subclassification of the nonsyndromic group into isolated PRS and PRS with additional anomalies (PRS-Plus). The aim of this research is to provide an accurate phenotypic characterisation of nonsyndromic PRS, specifically the PRS-Plus subgroup. We sought to examine the frequency of sequence variants in previously defined conserved noncoding elements (CNEs) in the putative enhancer region upstream of SOX9, the regulation of which has been associated with PRS phenotypes...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27913724/novel-application-of-steroid-eluting-stents-in-choanal-atresia-repair-a-case-series
#2
John N Bangiyev, Nandini Govil, Anthony Sheyn, Michael Haupert, Prasad John Thottam
PURPOSE: To describe the application of mometasone furoate eluting sinus stent technology in the treatment of choanal atresia (CA) in the hopes of preventing postsurgical stenosis. METHODS: We analyzed 3 consecutive patients aged 4 days to 16 years undergoing repair of CA at a tertiary pediatric hospital. Mometasone furoate eluting sinus stents were placed intraoperatively. Postoperative need for revision surgery as well as routine surveillance endoscopy were used to determine success of surgery...
January 2017: Annals of Otology, Rhinology, and Laryngology
https://www.readbyqxmd.com/read/27878457/poorly-understood-and-often-miscategorized-congenital-umbilical-cord-hernia-an-alternative-repair-method
#3
E İnce, A Temiz, S S Ezer, H Ö Gezer, A Hiçsönmez
PURPOSE: Umbilical cord hernia is poorly understood and often miscategorized as "omphalocele minor". Careless clamping of the cord leads to iatrogenic gut injury in the situation of umbilical cord hernia. This study aimed to determine the characteristics and outcomes of umbilical cord hernias. We also highlight an alternative repair method for umbilical cord hernias. METHODS: We recorded 15 cases of umbilical cord hernias over 10 years. The patients' data were retrospectively reviewed, and preoperative preparation of the newborn, gestational age, birth weight, other associated malformations, surgical technique used, enteral nutrition, and length of hospitalization were recorded...
November 22, 2016: Hernia: the Journal of Hernias and Abdominal Wall Surgery
https://www.readbyqxmd.com/read/27832265/prevalence-of-semicircular-canal-hypoplasia-in-patients-with-charge-syndrome-3c-syndrome
#4
Andre Wineland, Maithilee D Menezes, Joshua S Shimony, Marwan S Shinawi, Timothy E Hullar, Keiko Hirose
Importance: CHARGE syndrome refers to a syndrome involving coloboma, heart defects, atresia choanae, retardation of growth and development, genitourinary disorders, and ear anomalies. However, Verloes revised the characteristics of CHARGE syndrome in 2005 to define this syndrome more broadly. Deficiency of the semicircular canals is now a major criterion for CHARGE syndrome. Objective: To characterize patients with CHARGE syndrome at our center using Verloes' criteria and to reevaluate the nomenclature for this condition...
November 10, 2016: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/27771683/masking-of-the-symptoms-of-bilateral-congenital-choanal-atresia-by-a-coexisting-anomaly-of-the-upper-lip
#5
K M Adhikari, Kannan Venkatnarayan
No abstract text is available yet for this article.
October 8, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/27617820/anesthesia-management-in-patients-with-choanal-atresia
#6
Zeynep Baysal Yildirim, Mehmet Akdağ, Feyzi Çelik, Elif Baysal
BACKGROUND: In this study, the anaesthetic management of newborn and infant patients who underwent surgery for choanal atresia between 2009 and 2016 is discussed in the light of recently published literature. METHODS: The diagnoses, demographic data, anaesthetic risk and duration, additional anomalies, airway management, and complications that arose in 41 patients with choanal atresia who were operated on between 2009 and 2016 were evaluated retrospectively by examining their medical and anaesthesia records...
September 9, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27408448/respiratory-distress-secondary-to-rhabdomyosarcoma-of-the-tongue-and-co-existent-choanal-atresia
#7
Rahul Chatopadhayay, Preeti Tiwari, A N Gangopadhyay, Vaibhav Pandey
Whilst rhabdomyosarcoma (RMS) is the third most common solid tumour in children, congenital RMS of the tongue is extremely rare and usually present as painless progressive mass since birth (Dagher and Helman in Oncologist 4:34-44, 1999; Childs and Goudy in Int J Pediatr Otorhinolaryngol 5:126-128, 2010). In neonates, presentation with respiratory distress is unexpected as neonates are preferential nasal breathers and restricted oral breathing due to tumour usually poses no problem. We herein report a case of rhabdomyosarcoma of the tongue with co-existent unilateral choanal atresia, presenting with respiratory distress...
July 2016: Journal of Maxillofacial and Oral Surgery
https://www.readbyqxmd.com/read/27373051/-advances-in-treatment-of-congenital-posterior-choanal-atresia
#8
Jingjing Zhang, Qingfeng Zhang, Delong Liu
Congenital posterior choanal atresia is a rare congenital deformity. Due to the influence of nose and face and intellectual development, its preferred surgical treatment. But surgical treatment methods and technology are in dispute. The using of high resolution display systems combine with micro tools can effectively reduce postoperative scarring and adhesion formation which is the key point to prevent restenosis. There is also the focus of controversy whether should place an expansive tube after operation...
February 2016: Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery
https://www.readbyqxmd.com/read/27240494/endoscopic-bilateral-congenital-choanal-atresia-repair-of-112-cases-evolving-concept-and-technical-experience
#9
Hesham Mohammad Eladl, Yasser W Khafagy
OBJECTIVE: This study aims to present 18 years' experience with endoscopic treatment of bilateral congenital choanal atresia as regard to management concept, surgical technique, results, pitfalls, and complications. PATIENTS AND METHODS: A retrospective study including 112 cases of bilateral congenital choanal atresia, treated at Mansoura University Hospital endoscopically in the period from January 1998 to March 2015. As far as we know, this is the largest study group on transnasal endoscopic choanal atresia repair in literature...
June 2016: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27216343/endoscopic-repair-of-bilateral-choanal-atresia-starting-with-vomer-resection-evaluation-study
#10
Mohammad Waheed El-Anwar, Ahmad Abdel Fattah Nofal, Magdy Abdalla Sayed El-Ahl
BACKGROUND: Choanal atresia is the most common inborn nasal anomaly, and its definitive treatment is surgical to achieve proper bilateral nasal patency. Four main surgical approaches were used for repair: transantral, transpalatal, transseptal, and transnasal. The transnasal endoscopic approach is the most widely accepted nowadays. In this study, we aimed to evaluate the long-term results of a transnasal endoscopic repair of congenital choanal atresia started with resection of the posterior portion of the vomer and was completed without the use of stents in a large series of patients...
May 2016: American Journal of Rhinology & Allergy
https://www.readbyqxmd.com/read/27174773/surgical-treatment-of-choanal-atresia-with-transnasal-endoscopic-approach-with-stentless-single-side-hinged-flap-technique-5-year-retrospective-analysis
#11
Carmelo Saraniti, Manuela Santangelo, Pietro Salvago
INTRODUCTION: Choanal atresia is a rare congenital malformation of the nasal cavity characterized by the complete obliteration of the posterior choanae. In 67% of cases choanal atresia is unilateral, affecting mainly (71%) the right nasal cavity. In contrast to the unilateral form, bilateral choanal atresia is a life-threatening condition often associated with respiratory distress with feeding and intermittent cyanosis exacerbated by crying. Surgical treatment remains the only therapeutic option...
April 22, 2016: Brazilian Journal of Otorhinolaryngology
https://www.readbyqxmd.com/read/27114819/rarely-seen-nasal-congenital-problems-causing-neonatal-upper-respiratory-obstruction-a-case-series
#12
Yeşim Başal, Abdullah Bariş Akcan, Yasemin Durum Polat, Ceren Günel, Aylin Eryilmaz, Sema Başak
Since newborns are obligatory nasal breathers, upper respiratory tract problems may sometimes be life threatening. The most common pathology causing dyspnea and stridor in newborns is laryngomalacia. Nasal cavity pathologies that risk the neonatal airway are more rarely met. These anomalies may be seen either as solitary anomalies or as a part of a syndrome. While choanal atresia is one of the best-known nasal cavity anomalies, choanal stenosis, congenital nasal mid-line masses, congenital nasal pyriform aperture stenosis, and nasal tip anomalies are more rarely seen structural pathologies...
March 31, 2016: Pediatric Reports
https://www.readbyqxmd.com/read/27096022/false-computed-tomography-findings-in-bilateral-choanal-atresia
#13
Ezzeddin Elsheikh, Mohammad Waheed El-Anwar
Introduction Choanal atresia (CA) is a challenging surgical problem defined as a failure in the development of communication between the nasal cavity and nasopharynx. Objective The objective of this study is to describe computed tomography (CT) findings in cases with bilateral choanal atresia. Methods The study involved performing axial and coronal non-contrast CT scanning with 2-3 mm sections on14 neonates that had bilateral CA. We used fiberoptic nasal endoscopy to confirm the diagnosis. We evaluated coronal CT to study the skull base area in such neonates...
April 2016: International Archives of Otorhinolaryngology
https://www.readbyqxmd.com/read/27061523/prenatal-findings-in-children-with-early-postnatal-diagnosis-of-charge-syndrome
#14
Tiffany Busa, Marine Legendre, Marie Bauge, Edwin Quarello, Florence Bretelle, Frederic Bilan, Sabine Sigaudy, Brigitte Gilbert-Dussardier, Nicole Philip
BACKGROUND: CHARGE syndrome is a multiple congenital anomaly syndrome caused by mutations in CHD7. Diagnostic criteria have been proposed to improve diagnosis in fetuses at clinicopathological survey, but no criteria exist for fetal diagnosis during pregnancy. METHOD: We collected prenatal findings of 12 children with CHARGE syndrome diagnosed in the first 3 months and a CHD7 mutation. We retrieved data on prenatal ultrasound (US) follow-up, fetal supplementary investigations, and results of postnatal evaluation...
June 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27059368/diagnosis-and-management-of-nasopharyngeal-stenosis
#15
REVIEW
Allyson C Berent
Choanal atresia is rare in small animal veterinary medicine, and most cases are misdiagnosed and are actually a nasopharyngeal stenosis (NPS), which is frustrating to treat because of the high recurrence rates encountered after surgical intervention. Minimally invasive treatment options like balloon dilation (BD), metallic stent placement (MS), or covered metallic stent (CMS) placement have been met with success but are associated with various complications that must be considered. The most common complication with BD alone is stenosis recurrence...
July 2016: Veterinary Clinics of North America. Small Animal Practice
https://www.readbyqxmd.com/read/27017359/-malignant-infantile-osteopetrosis-revealed-by-choanal-atresia-a-case-report
#16
I D Ba, A Ba, A Thiongane, A Ly/Ba, M Ba, M Fattah, P M Faye, D F Cissé, F N Diouf
Malignant infantile osteopetrosis is a rare genetic disease characterized by increased bone density due to osteoclastic dysfunction. We report on the case of a 3-month-old girl who was referred to our hospital by the ENT department for severe anemia in the context of bilateral choanal atresia. Clinical examination showed failure to thrive, anemia, respiratory distress, bilateral choanal atresia, and chest deformation. The abdomen was soft with large hepatosplenomegaly. We noted a lack of eye tracking, no optical-visual reflexes, and left nerve facial paralysis...
May 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/26957717/airway-management-in-neonate-with-microcuff-%C3%A2-pediatric-endotracheal-tube-for-correction-of-bilateral-choanal-atresia
#17
Tuhin Mistry, Neelam Dogra, Priyanka Jain, Kanchan Chauhan
No abstract text is available yet for this article.
January 2016: Anesthesia, Essays and Researches
https://www.readbyqxmd.com/read/26929907/three-novel-mutations-of-chd7-gene-in-two-turkish-patients-with-charge-syndrome-a-double-point-mutation-and-an-insertion
#18
O Giray Bozkaya, E Ataman, C Randa, D Onur Cura, S Gürsoy, O Aksel, A Ulgenalp
The CHARGE (coloboma, heart defects, atresia, retardation, genital, ear) syndrome is a genetic disease characterized by ocular coloboma, choanal atresia or stenosis and semicircular canal abnormalities. Most of the patients clinically diagnosed with CHARGE syndrome have mutations in chromodomain helicase DNA-binding protein 7 (CHD7) gene. The CHD7 gene is located on chromosome 8q12.1, and up to now, there are more than 500 pathogenic mutations identified in the literature. We report two patients diagnosed with CHARGE syndrome with two novel mutations in the CHD7 gene: the first patient has double consecutive novel mutations in three adjacent codons, and the other has a novel insertion...
June 2015: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/26925564/-nasal-breath-recovery-and-rhinoplasty-in-cleft-lip-and-palate-patient-with-unilateral-choanal-atresia
#19
T Z Chkadua, M D Ivanova, R O Daminov, L A Brusova, D M Savvateeva
The paper presents the analysis of clinical case of endoscopic nasal breath restoration and elimination of the secondary cleft lip nasal deformity in 27 years old patient with unilateral choanal atresia and secondary nasal deformity after rhinocheiloplasty. Preoperative examination revealed the absence of nasal breathing on collateral side due to complete bone choanal atresia. Surgical treatment included endoscopic choanal repair, elimination of the secondary nasal deformity, septoplasty, conchotomy and lateroposition of the inferior conchae...
2016: Stomatologii︠a︡
https://www.readbyqxmd.com/read/26879228/the-endoscopic-transseptal-approach-for-choanal-atresia-repair
#20
Peter-John Wormald, Yi Chen Zhao, Constanza J Valdes, Alvaro E Pacheco, Thanh Ngoc Ha, Marc A Tewfik, David Wabnitz, Chi-Kee Leslie Shaw
BACKGROUND: There are many standard repair options for choanal atresia including puncture, dilatation and drilling of the atretic plate. Most of these techniques involve postoperative stenting, which may promote granulation and scarring, with possible progression to restenosis. This article describes a novel approach for choanal atresia repair without postoperative stenting. METHODS: This article describes our experience with this choanal atresia repair technique utilized in 16 pediatric patients and 1 adult patient across multiple tertiary pediatric and rhinology centers during 2008 through 2015...
June 2016: International Forum of Allergy & Rhinology
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