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Choanal atresia

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https://www.readbyqxmd.com/read/28414605/use-of-a-novel-surgical-approach-for-treatment-of-complete-bilateral-membranous-choanal-atresia-in-an-alpaca-cria
#1
Karine Pader, Patrick M Burns, Anne-Claire Brisville, Marjolaine Rousseau, Laurent Blond, Geoffrey Truchetti, Hélène Lardé, Catherine Lapointe, David Francoz
CASE DESCRIPTION A 4-hour-old 6.3-kg (13.9-lb) female alpaca cria was evaluated because of severe respiratory distress and difficulty nursing since birth. CLINICAL FINDINGS The cria had open-mouth breathing and cyanotic membranes, with no airflow evident from either nostril. Supplemental oxygen was delivered, and the patient was anesthetized and intubated orotracheally; a CT evaluation of the head confirmed bilateral membranous obstruction of the nasal cavities, consistent with complete bilateral choanal atresia...
May 1, 2017: Journal of the American Veterinary Medical Association
https://www.readbyqxmd.com/read/28289870/the-effects-of-choanal-atresia-on-development-of-the-paranasal-sinuses-and-turbinates
#2
Suat Terzi, Engin Dursun, Fatma Beyazal Çeliker, Metin Çeliker, Mehmet Beyazal, Abdulkadir Özgür, Emel Çadallı Tatar, Mehmet Hakan Korkmaz
PURPOSE: The objective of this study was to evaluate the volume of paranasal sinuses (PNS) and turbinate in patients with unilateral choanal atresia (CA). MATERIALS AND METHOD: Computed tomography images of PNS in 11 individuals with unilateral CA were evaluated retrospectively. Mucosal thickness and volume of the maxillary, frontal and sphenoidal sinuses were determined, in addition to the volume of the middle and inferior turbinate. The unaffected nasal side of patients was used as a control group for the measurements...
March 13, 2017: Surgical and Radiologic Anatomy: SRA
https://www.readbyqxmd.com/read/28253873/extended-clinical-features-associated-with-novel-glis3-mutation-a-case-report
#3
K A Alghamdi, A B Alsaedi, A Aljasser, A Altawil, Naglaa M Kamal
BACKGROUND: Mutations in the GLI-similar 3 (GLIS3) gene encoding the transcription factor GLIS3 are a rare cause of neonatal diabetes and congenital hypothyroidism with 12 reported patients to date. Additional features, previously described, include congenital glaucoma, hepatic fibrosis, polycystic kidneys, developmental delay, facial dysmorphism, osteopenia, sensorineural deafness, choanal atresia, craniosynostosis and pancreatic exocrine insufficiency. CASE PRESENTATION: We report a new case for consanguineous parents with homozygous novel mutation in GLIS3 gene who presented with neonatal diabetes mellitus, severe resistant congenital hypothyroidism, cholestatic liver disease, bilateral congenital glaucoma and facial dysmorphism...
March 2, 2017: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/28169399/rdh10-loss-of-function-and-perturbed-retinoid-signaling-underlies-the-etiology-of-choanal-atresia
#4
Hiroshi Kurosaka, Qi Wang, Lisa Sandell, Takashi Yamashiro, Paul A Trainor
Craniofacial development is a complex process that involves sequential growth and fusion of the facial prominences. When these processes fail, congenital craniofacial anomalies can occur. For example, choanal atresia (CA) is a congenital craniofacial anomaly in which the connection between the nasal airway and nasopharynx is completely blocked. CA occurs in approximately 1/5000 live births and is a frequent component of congenital disorders such as CHARGE, Treacher Collins, Crouzon and Pfeiffer syndromes. However, the detailed cellular and molecular mechanisms underpinning the etiology and pathogenesis of CA remain elusive...
April 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28059674/coronal-clival-cleft-in-charge-syndrome
#5
Eman Mahdi, Matthew T Whitehead
CHARGE syndrome is a genetic disorder with multi-systemic congenital anomalies, most commonly including coloboma, heart malformations, choanal atresia, developmental delay, and genital and ear anomalies. The diagnostic criteria for CHARGE syndrome has been refined over the years. However, there are limited reports describing skullbase and craniocervical junction abnormalities. These osseous malformations are often under recognized, especially on MRI. We report here a case of CHARGE syndrome with colobomas, cleft lip and palate, patent ductus arteriosus, undescended testes, and a coronal clival cleft which has not been previously depicted in CHARGE syndrome...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28045821/treatment-of-congenital-choanal-atresia-via-transnasal-endoscopic-method
#6
Secaattin Gulşen, Elif Baysal, Fatih Celenk, Ismail Aytaç, Cengiz Durucu, Muzaffer Kanlikama, Semih Mumbuç
OBJECTIVES: Congenital choanal atresia (CCA) is a very rare abnormality of the nose, but in the case of bilateral presence, it becomes a life-threatening malformation. Various surgical treatment options, such as transpalatal, transseptal, and open rhinoplasty techniques, as well as the transnasal approach, have been defined for the repair of CCA. In this study, the authors intended to evaluate the outcomes of transnasal endoscopic surgery for CCA, and stent implementation's impact on surgical success...
March 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28032936/role-of-jnk-during-buccopharyngeal-membrane-perforation-the-last-step-of-embryonic-mouth-formation
#7
Nathalie S Houssin, Navaneetha Krishnan Bharathan, Stephen D Turner, Amanda J G Dickinson
BACKGROUND: The buccopharyngeal membrane is a thin layer of cells covering the embryonic mouth. The perforation of this structure creates an opening connecting the external and the digestive tube which is essential for oral cavity formation. In humans, persistence of the buccopharyngeal membrane can lead to orofacial defects such as choanal atresia, oral synechiaes, and cleft palate. Little is known about the causes of a persistent buccopharyngeal membrane and, importantly, how this structure ruptures...
February 2017: Developmental Dynamics: An Official Publication of the American Association of Anatomists
https://www.readbyqxmd.com/read/28005740/anesthesia-management-in-patients-with-choanal-atresia
#8
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...
November 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27991736/kmt2d-p-gln3575his-segregating-in-a-family-with-autosomal-dominant-choanal-atresia-strengthens-the-kabuki-charge-connection
#9
Lauren Badalato, Sali M K Farhan, Allison A Dilliott, Dennis E Bulman, Robert A Hegele, Sharan L Goobie
Choanal atresia is rarely reported in Kabuki syndrome, but is a common feature of CHARGE syndrome. Otherwise, the two conditions have a number of overlapping features, and the molecular links between them have recently been elucidated. Here, we report a case of a mother and her two children who presented with congenital choanal atresia. We performed whole exome sequencing on DNA from the mother and her two unaffected parents, and identified a de novo, novel variant in KMT2D. KMT2D p.Gln3575His segregated with disease status in the family, and is associated with a unique and conserved phenotype in the affected family members, with features overlapping with Kabuki and CHARGE syndromes...
January 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27933642/bilateral-choanal-atresia-in-an-adult-woman-with-pycnodysostosis
#10
Ceren Damla Durmaz, Vedat Taş, Pınar Kocaay, Omer Suat Fitöz, Hüseyin Onay, Süha Beton, Ferda Özkınay, Hatice Ilgın Ruhi
No abstract text is available yet for this article.
December 9, 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27920635/clinical-and-molecular-characterisation-of-children-with-pierre-robin-sequence-and-additional-anomalies
#11
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
#12
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
#13
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
#14
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...
February 1, 2017: 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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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