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Choanal atresia

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https://www.readbyqxmd.com/read/29335043/stentless-mirrored-l-shaped-septonasal-flap-versus-stented-flapless-technique-for-endoscopic-endonasal-repair-of-bilateral-congenital-choanal-atresia-a-prospective-randomised-controlled-study
#1
M O Tomoum, M H Askar, M F Mandour, M A Amer, M E Saafan
OBJECTIVES: To compare the outcomes of endoscopic repair of bilateral congenital choanal atresia using a flap technique without stenting versus endoscopic repair using stenting without a flap. METHODS: A prospective randomised controlled study was conducted, comprising 72 patients with bilateral congenital choanal atresia. The patients were randomised into two groups. Group A (42 patients) underwent endoscopic repair using a mirrored L-shaped flap without stenting, and group B (30 patients) underwent endoscopic repair using stenting without a flap...
January 16, 2018: Journal of Laryngology and Otology
https://www.readbyqxmd.com/read/29333838/solitary-median-maxillary-central-incisor-holoprosencephaly-and-congenital-nasal-pyriform-aperture-stenosis-in-a-premature-infant-case-report
#2
Ozkan Ilhan, Yeliz Pekcevik, Sinem Akbay, Senem A Ozdemir, Seyma Memur, Berat Kanar, Ozgur Kirbiyik, Esra A Ozer
Solitary median maxillary central incisor syndrome is a rare disorder involving midline abnormalities such as holoprosencephaly, nasal cavity anomalies, cleft palate-lip, hypotelorism, microcephaly, and panhypopituitarism. Congenital nasal pyriform aperture stenosis is a lethal cause of neonatal respiratory distress due to narrowing of the pyriform aperture anteriorly and it can be confused with choanal atresia. In this report, we present a newborn infant with solitary median maxillary central incisor syndrome accompanied by other abnormalities including holoprosencephaly, nasal pyriform aperture stenosis, microcephaly and panhypopituitarism...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29280877/choanal-atresia-and-craniosynostosis-development-and-disease
#3
Kate M Lesciotto, Yann Heuzé, Ethylin Wang Jabs, Joseph M Bernstein, Joan T Richtsmeier
A number of textbooks, review articles, and case reports highlight the potential comorbidity of choanal atresia in craniosynostosis patients. However, the lack of a precise definition of choanal atresia within the current craniosynostosis literature and widely varying methods of detection and diagnosis have produced uncertainty regarding the true coincidence of these conditions. The authors review the anatomy and embryologic basis of the human choanae, provide an overview of choanal atresia, and analyze the available literature that links choanal atresia and craniosynostosis...
January 2018: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29276878/the-use-of-nasal-trumpet-as-a-non-invasive-treatment-method-in-congenital-nasal-stenosis
#4
Özgür Kemal, Sinan Atmaca, Ayşe Bel-Çeçen, Berkan Düzgün, Hasibe Canan Aygün
Kemal Ö, Atmaca S, Bel-Çeçen A, Düzgün B, Aygün HC. The use of nasal trumpet as a non-invasive treatment method in congenital nasal stenosis. Turk J Pediatr 2017; 59: 210-213. Newborns and infants are dependent on nasal respiration and therefore, nasal obstructions may lead to life-threatening outcomes in this age group. Although the most common cause of nasal obstruction in newborns are choanal atresia, soft tissue edema, congenital nasal bone anomalies such as narrowness of the apertura piriformis and midnasal stenosis should be kept in mind...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29178447/phenotype-and-genotype-analysis-of-a-french-cohort-of-119-patients-with-charge-syndrome
#5
Marine Legendre, Véronique Abadie, Tania Attié-Bitach, Nicole Philip, Tiffany Busa, Dominique Bonneau, Estelle Colin, Hélène Dollfus, Didier Lacombe, Annick Toutain, Sophie Blesson, Sophie Julia, Dominique Martin-Coignard, David Geneviève, Bruno Leheup, Sylvie Odent, Pierre-Simon Jouk, Sandra Mercier, Laurence Faivre, Catherine Vincent-Delorme, Christine Francannet, Sophie Naudion, Michèle Mathieu-Dramard, Marie-Ange Delrue, Alice Goldenberg, Delphine Héron, Philippe Parent, Renaud Touraine, Valérie Layet, Damien Sanlaville, Chloé Quélin, Sébastien Moutton, Mélanie Fradin, Aurélia Jacquette, Sabine Sigaudy, Lucile Pinson, Pierre Sarda, Anne-Marie Guerrot, Massimiliano Rossi, Alice Masurel-Paulet, Salima El Chehadeh, Xavier Piguel, Montserrat Rodriguez-Ballesteros, Stéphanie Ragot, Stanislas Lyonnet, Frédéric Bilan, Brigitte Gilbert-Dussardier
CHARGE syndrome (CS) is a genetic disorder whose first description included Coloboma, Heart disease, Atresia of choanae, Retarded growth and development, Genital hypoplasia, and Ear anomalies and deafness, most often caused by a genetic mutation in the CHD7 gene. Two features were then added: semicircular canal anomalies and arhinencephaly/olfactory bulb agenesis, with classification of typical, partial, or atypical forms on the basis of major and minor clinical criteria. The detection rate of a pathogenic variant in the CHD7 gene varies from 67% to 90%...
November 27, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29136349/clinical-delineation-of-a-subtype-of-frontonasal-dysplasia-with-creased-nasal-ridge-and-upper-limb-anomalies-report-of-six-unrelated-patients
#6
Daphné Lehalle, Umut Altunoglu, Ange-Line Bruel, Eric Arnaud, Patricia Blanchet, Jong-Woo Choi, Julie Désir, Esra Kiliç, Damien Lederer, Lucile Pinson, Christel Thauvin-Robinet, Amihood Singer, Julien Thevenon, Patrick Callier, Hulya Kayserili, Laurence Faivre
Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and cranium bifidum occultum. Several entities of syndromic frontonasal dysplasia have been described, among which, to date, only a few have identified molecular bases. We clinically ascertained a cohort of 124 individuals referred for frontonasal dysplasia. We identified six individuals with a similar phenotype, including one discordant monozygous twin...
December 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29130604/expanding-the-phenotypic-spectrum-of-tp63-related-disorders-including-the-first-set-of-monozygotic-twins
#7
Tara Wenger, Dong Li, Margaret H Harr, Wen-Hann Tan, Renata Pellegrino, Zornitza Stark, Hakon Hakonarson, Elizabeth J Bhoj
Individuals with Tumor Protein P63 (TP63)-related disorders are known to present with a range of phenotypic features, including ectrodactyly, ectodermal dysplasia, cleft lip/palate, Rapp-Hodgkin, Hay-Wells, and limb-mammary syndromes. We present six individuals from three families, including a set of monozygotic twins, with pathogenic TP63 variants who had novel clinical findings. The twins were discordant for cleft lip and palate, and the type of hand malformations, but concordant for choanal atresia, and bilateral volar nail...
November 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29046629/cerebellar-vermis-and-midbrain-hypoplasia-upon-conditional-deletion-of-chd7-from-the-embryonic-mid-hindbrain-region
#8
Alex P A Donovan, Tian Yu, Jacob Ellegood, Kimberley L H Riegman, Christa de Geus, Conny van Ravenswaaij-Arts, Cathy Fernandes, Jason P Lerch, M Albert Basson
Reduced fibroblast growth factor (FGF) signaling from the mid-hindbrain or isthmus organizer (IsO) during early embryonic development results in hypoplasia of the midbrain and cerebellar vermis. We previously reported evidence for reduced Fgf8 expression and FGF signaling in the mid-hindbrain region of embryos heterozygous for Chd7, the gene mutated in CHARGE (Coloboma, Heart defects, choanal Atresia, Retarded growth and development, Genitourinary anomalies and Ear defects) syndrome. However, Chd7(+/-) animals only exhibit mild cerebellar vermis anomalies...
2017: Frontiers in Neuroanatomy
https://www.readbyqxmd.com/read/28905882/identification-of-causative-variants-in-txnl4a-in-burn-mckeown-syndrome-and-isolated-choanal-atresia
#9
Jacqueline A C Goos, Sigrid M A Swagemakers, Stephen R F Twigg, Marieke F van Dooren, A Jeannette M Hoogeboom, Christian Beetz, Sven Günther, Frank J Magielsen, Charlotte W Ockeloen, Maria A Ramos-Arroyo, Rolph Pfundt, Helger G Yntema, Peter J van der Spek, Philip Stanier, Dagmar Wieczorek, Andrew O M Wilkie, Ans M W van den Ouweland, Irene M J Mathijssen, Jane A Hurst
Burn-McKeown syndrome (BMKS) is a rare syndrome characterized by choanal atresia, prominent ears, abnormalities of the outer third of the lower eyelid, structural cardiac abnormalities, conductive and sensorineural hearing loss, and cleft lip. Recently, causative compound heterozygous variants were identified in TXNL4A. We analyzed an individual with clinical features of BMKS and her parents by whole-genome sequencing and identified compound heterozygous variants in TXNL4A (a novel splice site variant (c.258-2A>G, (p...
October 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28801718/stentless-endoscopic-repair-of-congenital-choanal-atresia-is-it-enough-for-maintaining-choanal-patency
#10
Emel Çadallı Tatar, Bülent Öcal, Esra Doğan, Ömer Bayır, Cem Saka, Ali Özdek, Mehmet Hakan Korkmaz
The aim of choanal atresia (CA) surgery is to achieve bilateral nasal patency. Among the different methods of CA repair, the endoscopic transnasal approach has gained recent popularity with the advent of endoscopic instruments and techniques. This article describes our experience regarding CA repair that was done either using or not using a stent in different periods of time in our department. Between February 2006 and February 2016, a total of 29 patients aged 2 days-53 years underwent endoscopic transnasal CA repair...
August 11, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/28780518/birth-defects-after-use-of-antithyroid-drugs-in-early-pregnancy-a-swedish-nationwide-study
#11
Stine Linding Andersen, Stefan Lönn, Peter Vestergaard, Ove Törring
OBJECTIVE: Antithyroid drugs (ATDs) may have teratogenic effects, but more evidence is needed on the risk and types of birth defects after the use of methimazole (MMI) and propylthiouracil (PTU). This study aimed to evaluate the association between the use of ATDs in early pregnancy and birth defects. DESIGN: Swedish nationwide register-based cohort study. METHODS: The study included 684 340 children live-born in Sweden from 2006 to 2012. Exposure groups defined by maternal ATD use in early pregnancy were MMI (n = 162); PTU (n = 218); MMI and PTU (n = 66); ATD before or after, but not in pregnancy (n = 1551) and non-exposed (never ATD (n = 682 343))...
October 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28716867/syndromic-congenital-diarrhoea-new-spint2-mutation-identified-in-the-uae
#12
Solange Bou Chaaya, Julian D Eason, Bibian N Ofoegbu
We are reporting a new mutation in the SPINT2 gene (c.443G>A (p. Arg148His)) that explains the association of choanal atresia with congenital sodium diarrhoea (CSD) in an Emirati family in the Middle East. To our knowledge, this mutation is neither listed in a mutation database nor described in the literature. Similar to other patients with CSD associated with SPINT2, this child remains dependent on parenteral nutrition for fluids and nutritional support resulting in failure to thrive. The determination of the molecular basis of syndromic CSD will facilitate prenatal and postnatal diagnosis of patients and will contribute to counselling of affected families, especially in areas like the UAE where consanguineous marriages are not uncommon...
July 16, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28714498/chondrodysplasia-punctata-a-case-report-of-fetal-warfarin-syndrome
#13
S Songmen, O B Panta, S S Paudel, R K Ghimire
Chondrodysplasia punctata is abnormal calcification in the cartilage of developing bones and has been seen in association with deranged vitamin K metabolism. Warfarin, an oral anticoagulant acting on vitamin K dependent clotting factors is known to cause chondrodysplasia punctata. Despite the knowledge of the condition the management of patients with prosthetic heart valves might require use of the drug for anticoagulation. Here, we present a case of a fetal warfarin syndrome in a second born child of a 27 year lady under warfarin for prosthetic heart valve...
January 2017: Journal of Nepal Health Research Council
https://www.readbyqxmd.com/read/28680498/impact-of-successful-choanal-atresia-repair-on-the-nasal-mucosa-a-preliminary-study
#14
Ezzeddin Elsheikh, Mohammad Waheed El-Anwar, Hesham Radwan Abdel-Aziz
Introduction  The main histological features of the nasal mucosa in choanal atresia are distorted cilia, marked increase of mucous submucosal glands associated with marked reduction of goblet cell density, and lymphocytic cellular infiltration. Objective  To study the nasal mucosal changes in cases of choanal atresia after successful repair compared with pre-repair mucosal histological features. Methods  Tissue samples were taken from the inferior turbinate of 3 patients (1 bilateral and 2 unilateral) who were successfully operated...
July 2017: International Archives of Otorhinolaryngology
https://www.readbyqxmd.com/read/28667919/a-rare-case-report-of-bilateral-choanal-atresia-in-an-adult
#15
Said Anajar, Jawad Hassnaoui, Sami Rouadi, Reda Abada, Mohammed Roubal, Mohammed Mahtar
INTRODUCTION: Adult choanal atresia is a rare congenital malformation of the nasal cavity characterized by the complete obliteration of the posterior choanae, only ninth cases are reported in the literature, we present in our observation the tenth case of adult bilateral choanal atresia. PRESENTATION OF CASE: A 18-year-old man presented at our department with complaints of nasal obstruction, nasal discharge, snoring, anosmia, and mouth breathing since childhood...
2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28643921/whole-exome-sequencing-identified-a-variant-in-eftud2-gene-in-establishing-a-genetic-diagnosis
#16
S Rengasamy Venugopalan, E G Farrow, M Lypka
OBJECTIVES: Craniofacial anomalies are complex and have an overlapping phenotype. Mandibulofacial Dysostosis and Oculo-Auriculo-Vertebral Spectrum are conditions that share common craniofacial phenotype and present a challenge in arriving at a diagnosis. In this report, we present a case of female proband who was given a differential diagnosis of Treacher Collins syndrome or Hemifacial Microsomia without certainty. Prior genetic testing reported negative for 22q deletion and FGFR screenings...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28609304/suprameatal-cochlear-implantation-in-a-charge-patient-with-a-novel-chd7-variant-and-kallmann-syndrome-phenotype-a-case-report
#17
Akira Ganaha, Tetsuya Tono, Tadashi Kaname, Kumiko Yanagi, Teruyuki Higa, Shunsuke Kondo, Hiroyuki Maeda, Mikio Suzuki
OBJECTIVE: We present the clinical findings, technique of the suprameatal cochlear implantation, postoperative auditory results, and genetic analysis of the CHD7 gene. PATIENT: A 19-year-old Japanese woman was referred because of progressive hearing loss since early childhood. She had used verbal language for the main mode of communication until the age of 17. Examination revealed coloboma, heart defect, choanal atresia, genital hypoplasia, and deafness, which was diagnosed as CHARGE syndrome...
August 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28583512/comprehensive-management-of-congenital-choanal-atresia
#18
Pierre Brihaye, Isabelle Delpierre, Andrée De Villé, Anne-Britt Johansson, Dominique Biarent, Anne-Laure Mansbach
OBJECTIVES: To present results of a one-stage minimally invasive surgical procedure for congenital choanal atresia (CCA). Seven outcome measures were applied. MATERIALS AND METHODS: Retrospective study conducted between 1999 and 2015. The same endonasal endoscopic approach with multiflaps and no stenting was used on 36 children. The flaps were attached with fibrine glue. There were 50% unilateral and 50% bilateral cases, 70% primary and 30% secondary surgery. The mean age at primary surgery for bilateral atresia was 10 days and for unilateral atresia 4 years...
July 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28476356/an-italian-multicentre-experience-in-endoscopic-endonasal-treatment-of-congenital-choanal-atresia-proposal-for-a-novel-classification-system-of-surgical-outcomes
#19
Apostolos Karligkiotis, Paolo Farneti, Stefania Gallo, Alessandro Pusateri, Francesco Zappoli-Thyrion, Vittorio Sciarretta, Fabio Pagella, Paolo Castelnuovo, Ernesto Pasquini
OBJECTIVE: The purposes of this study were to report our experience with endoscopic treatment of choanal atresia (CA), to illustrate our surgical technique and analyse the different factors that may affect outcomes. MATERIAL AND METHODS: A retrospective review was performed of patients affected by congenital CA and treated between June 1996 and November 2013 at three referral centres which follow a uniform policy. RESULTS: Eighty-four patients with CA (55 unilateral and 29 bilateral), aged between one day and 76 years (mean, 13 years) were included...
June 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28461801/a-rare-case-of-vascular-ring-and-coarctation-of-the-aorta-in-association-with-charge-syndrome
#20
Jonathan B Wagner, Joshua Q Knowlton, Peter Pastuszko, Sanket S Shah
A male neonate presented with CHARGE syndrome, a multiorgan genetic disorder involving the Coloboma of the eyes, congenital Heart defects, nasal choanal Atresia, growth and development Retardation, Genitourinary disorders, and Ear anomalies and deafness. Moreover, he had a rare case of vascular ring-consisting of a right aortic arch with retroesophageal brachiocephalic artery-combined with coarctation of the mid-aortic arch. He underwent both vascular ring and aortic arch repair at our institution. To our knowledge, this is the 4th documented case of this exceedingly rare type of aortic arch anomaly combined with aortic arch obstruction...
April 2017: Texas Heart Institute Journal
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