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Choanal atresia

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https://www.readbyqxmd.com/read/29720335/iatrogenic-traumatic-optic-neuropathy-report-of-an-injury-occurring-during-a-choanal-atresia-correction-surgery-treatment
#1
D Bertossi, D Marchioni, M Manuelli, U Tacchino, G Giampaoli, I Dall'Acqua, D De Santis, G Ricciardi, L Lanaro, N Kumar, R Nocini, P F Nocini
We report the case of a 36-year-old adult male patient who came to our attention for the evaluation of a possible iatrogenic injury suffered during the surgical correction of congenital choanal atresia. This case report retraces the patient's medical history and the events lapsed in the peri-operative time analyzing if any malpractice has occurred in causing the amaurosis.
March 2018: Journal of Biological Regulators and Homeostatic Agents
https://www.readbyqxmd.com/read/29622552/clival-malformations-in-charge-syndrome
#2
E S Mahdi, M T Whitehead
BACKGROUND AND PURPOSE: CHARGE syndrome is a multisystemic congenital disorder, most commonly including coloboma, heart malformations, choanal atresia, developmental delay, and genital and ear anomalies. The diagnostic criteria for CHARGE syndrome have been refined with time. However, limited reports describe skull base and craniocervical junction abnormalities. Recently, a coronal clival cleft has been identified in association with CHARGE syndrome. The aim of our study was to assess the prevalence of clival pathology in CHARGE syndrome...
April 5, 2018: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/29575628/congenital-sodium-diarrhea-and-chorioretinal-coloboma-with-optic-disc-coloboma-in-a-patient-with-biallelic-spint2-mutations-including-p-tyr163cys
#3
Kristin E Hirabayashi, Anthony T Moore, Bryce A Mendelsohn, Ryan J Taft, Aditi Chawla, Denise Perry, Duncan Henry, Anne Slavotinek
Congenital sodium diarrhea is a rare and life-threatening disorder characterized by a severe, secretory diarrhea containing high concentrations of sodium, leading to hyponatremia and metabolic acidosis. It may occur in isolation or in association with systemic features such as facial dysmorphism, choanal atresia, imperforate anus, and corneal erosions. Mutations in the serine protease inhibitor, Kunitz-Type 2 (SPINT2) gene have been associated with congenital sodium diarrhea and additional syndromic features...
April 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29500502/-diagnostics-and-management-of-choanal-atresia
#4
I Baumann, O Sommerburg, P Amrhein, P K Plinkert, A Koitschev
Choanal atresia is a rare malformation that represents a special challenge. While bilateral choanal atresia usually needs to be surgically treated within a few days of birth, the intervention for one-sided choanal atresia can be postponed for years. Treatment planning requires adequate imaging (CT or MRI), which also serves to exclude other skull base malformities. Surgical treatment currently focuses on transnasal endoscopic techniques. Simultaneous resection of the parts of the vomer involved in the atresia seems to be important surgical success...
April 2018: HNO
https://www.readbyqxmd.com/read/29499739/isolated-choanal-and-gut-atresias-pathogenetic-role-of-serine-protease-inhibitor-type-2-spint2-gene-mutations-unlikely
#5
Christian Niederwanger, Silvia Lechner, Lisa König, Andreas R Janecke, Claus Pototschnig, Beatrice Häussler, Sabine Scholl-Bürgi, Thomas Müller, Peter Heinz-Erian
BACKGROUND: Choanal (CA) and gastrointestinal atresias (GA) are an important feature of syndromic congenital sodium diarrhea (sCSD), a disorder recently associated with mutations in the gene for serine protease inhibitor type 2 (SPINT2). It is, however, not known whether isolated non-syndromic CA and GA themselves might result from SPINT2 mutations. METHODS: We performed a prospective cohort study to investigate 19 CA and/or GA patients without diarrhea ("non-sCSD") for potential sCSD characteristic clinical features and SPINT2 mutations...
March 2, 2018: European Journal of Medical Research
https://www.readbyqxmd.com/read/29492094/dealing-a-neonate-with-charge-syndrome-anaesthesia-perspective-of-perioperative-care
#6
Khalid Maudood Siddiqui, Muhammad Ali Asghar, Amjad Nadeem
CHARGE syndrome is a condition that can disturb numerous areas of human body. As an abbreviation CHARGE stands for: coloboma, heart defects, atresia choanae, and retardation of growth, genital, and ear abnormalities. The configuration of malformations differs among individuals with this disorder, and the various health issues can be life-threatening during infancy and childhood. Affected individuals typically have several main features or a combination of major and minor appearances. Here we are presenting a case report of a neonate with CHARGE syndrome who underwent successful repair of choanal atresia under general anaesthesia with invasive monitoring...
November 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/29480518/early-transient-prenatal-ultrasound-features-of-choanal-atresia
#7
Moshe Bronshtein, Zvi Leibovitz, Gaby Laham, Sandro Egenburg, Igal Wolman, Ron Bardin
We present a case series of early second-trimester prenatal ultrasound (US) features in 4 fetuses with a confirmed diagnosis of choanal atresia. The clinical characteristics and outcomes evaluated included prenatal US findings, genetic analyses, postmortem autopsies (2 cases), and computed tomographic findings. A transient large nasal cavity was detected by US in all 4 fetuses. This finding disappeared a few weeks later. Three cases were unilateral choanal atresia, and 1 was bilateral. Transient enlargement of the nasal cavity in early pregnancy appears to be a US sign of choanal atresia...
February 26, 2018: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/29456944/choanal-atresia-birth-without-breath
#8
Vikas Sinha, Samanth Talagauara Umesh, Sushil G Jha, Swati Dadhich
Bilateral Choanal atresia is a medical emergency. Corrective surgery is the mainstay of the treatment. Hegar's dilator was used in all cases to break the bony/membranous atretic plate. The 22 cases of choanal atresia all operated by the first author were included in this study. Eight cases were 1-5 year old with bilateral choanal atresia and all required immediate surgery as they had repeated attacks of respiratory distress and cycle of cyanosis. Eight cases were of CHARGE Syndrome. All the cases were operated under general anaesthesia...
March 2018: Indian Journal of Otolaryngology and Head and Neck Surgery
https://www.readbyqxmd.com/read/29437513/cleft-lip-and-palate-in-charge-syndrome-phenotypic-features-that-influence-management
#9
Kathryn V Isaac, Ingrid M Ganske, Stephen A Rottgers, So Young Lim, John B Mulliken
OBJECTIVE: Infants with syndromic cleft lip and/or cleft palate (CL/P) often require more complex care than their nonsyndromic counterparts. Our purpose was to (1) determine the prevalence of CL/P in patients with CHARGE syndrome and (2) highlight factors that affect management in this subset of children. DESIGN: This is a retrospective review from 1998 to 2016. PATIENTS: Patients with CHARGE syndrome were diagnosed clinically and genetically...
March 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29421841/-endonasal-endoscopic-surgery-of-choanal-atresia-long-term-results
#10
Laura Holtmann, Kerstin Stähr, Julian Kirchner, Stephan Lang, Stefan Mattheis
INTRODUCTION:  Choanal atresia is a rare abnormality. As neonates depend on transnasal respiration, bilateral choanal atresia causes an acute emergency. Transnasal endoscopic resection of congenital choanal atresia is a well-established therapy. However, the surgical technique has not yet been standardized. METHODS:  A retrospective chart review was performed with a follow-up examination between 9 to 87 months after surgery. 11 patients (7 with unilateral atresia, 4 with bilateral atresia) were included...
February 8, 2018: Laryngo- Rhino- Otologie
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
#11
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
#12
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
#13
REVIEW
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
#14
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
#15
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%...
December 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
#16
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
#17
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
#18
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
#19
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
#20
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
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