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laryngeal cleft

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https://www.readbyqxmd.com/read/29130604/expanding-the-phenotypic-spectrum-of-tp63-related-disorders-including-the-first-set-of-monozygotic-twins
#1
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/29112243/richieri-costa-pereira-syndrome-expanding-its-phenotypic-and-genotypic-spectrum
#2
D R Bertola, G Hsia, L Alvizi, A Gardham, E Wakeling, G L Yamamoto, R S Honjo, L A N Oliveira, R C Di Francesco, B A Perez, C A Kim, M R Passos-Bueno
Richieri-Costa-Pereira syndrome is a rare autosomal recessive acrofacial dysostosis that has been mainly described in Brazilian individuals. The cardinal features include Robin sequence, cleft mandible, laryngeal anomalies and limb defects. A biallelic expansion of a complex repeated motif in the 5' untranslated region of EIF4A3 has been shown to cause this syndrome, commonly with 15 or 16 repeats. The only patient with mild clinical findings harbored a 14-repeat expansion in one allele and a point mutation in the other allele...
November 7, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29105033/an-aerodigestive-approach-to-laryngeal-clefts-and-dysphagia-using-injection-laryngoplasty-in-young-children
#3
REVIEW
Amar Miglani, Scott Schraff, Pamela Y Clarke, Usmaan Basharat, Peter Woodward, Paul Kang, Lindsay Stevens, Jim Woodward, Howard Williams, Dana I Williams
PURPOSE OF REVIEW: Our objective is to summarize the presentation, diagnosis, and management of mild laryngeal clefts in children. We focus on deep interarytenoid notches (DIN), a subclassification of type 1 laryngeal clefts (LC1), and review the literature and our multidisciplinary experience utilizing injection laryngoplasty (IL). RECENT FINDINGS: DIN is a mild form of LC1 and is considered a normal anatomical variant. Recent cohort studies demonstrate IL to be a safe, low-risk, and efficacious treatment of LC1, but few studies focus on DIN...
November 6, 2017: Current Gastroenterology Reports
https://www.readbyqxmd.com/read/29058245/ocular-findings-in-a-patient-with-oculofaciocardiodental-ofcd-syndrome-and-a-novel-bcor-pathogenic-variant
#4
Yujia Zhou, Antonina Wojcik, Victoria R Sanders, Bahram Rahmani, Sudhi P Kurup
PURPOSE: To report a case of OFCD associated with a de novo BCOR pathogenic variant and highlight the ocular findings and possible mechanisms. METHODS: A retrospective chart review of the patient's ocular and systemic findings was performed. The patient underwent diagnostic whole exome sequencing (WES). RESULTS: The patient had a comprehensive eye exam in infancy demonstrating bilateral congenital cataracts consisting of posterior lenticonus with a posterior cortical opacity...
October 22, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28964310/international-pediatric-otolaryngology-group-consensus-guidelines-on-the-diagnosis-and-management-of-type-i-laryngeal-clefts
#5
Jeffrey C Yeung, Karthik Balakrishnan, Alan T L Cheng, Sam J Daniel, Eréa-Noël Garabedian, Catherine K Hart, Andrew F Inglis, Nicolas Leboulanger, Bryan J Liming, Eric Moreddu, Richard Nicollas, John D Russell, Michael J Rutter, Douglas R Sidell, Jorge Spratley, Marlene Soma, Briac Thierry, Dana M Thompson, Jean-Michel Triglia, Karen Watters, Michelle Wyatt, George H Zalzal, Karen B Zur, Reza Rahbar
INTRODUCTION: The diagnosis and management of type I laryngeal clefts can be controversial and varies across centers and surgeons. Using existing peer-reviewed literature to develop an expert-based consensus will help guide physicians in the treatment of these patients as well as develop research hypotheses to further study this condition. OBJECTIVE: To provide recommendations for the diagnosis and management of type I laryngeal clefts. METHODS: Determination of current expert- and literature-based recommendations, via a survey of the International Pediatric Otolaryngology Group, using a modified Delphi method...
October 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28943051/a-case-of-adult-congenital-laryngeal-cleft-asymptomatic-until-hypopharynx-cancer-treatment
#6
Kotaro Shimizu, Atsuhiko Uno, Kazuya Takemura, Naoki Ashida, Ryohei Oya, Takahiro Kitamura, Yukinori Takenaka, Yoshifumi Yamamoto
Laryngeal cleft is an anomaly of failed posterior closure of the larynx. Most cases are diagnosed and need treatment early in life due to respiratory and swallowing problems. We report an unusual case of a 66-year-old man with an asymptomatic laryngeal cleft until treatment for hypopharyngeal cancer. During concurrent chemoradiotherapy (CCRT), despite reduced tumor volume, he presented severe dysphagia and dyspnea, followed by severe pneumonia twice. Because CCRT had to be discontinued, a pharyngolaryngectomy was performed for the cancer treatment...
September 21, 2017: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/28929060/laser-assisted-double-layer-endoscopic-repair-of-laryngeal-clefts-our-experience-in-11-cases
#7
Danah Aljomah, Jaber Alshammari
Laryngeal cleft is a rare congenital malformation of the respiratory tract leading to a high level of morbidity and mortality, recently being diagnosed with increased frequency. Management throughout the years included medical and surgical. The open surgical technique is more commonly used although it has higher risk and need longer post-operative care. Recently surgical endoscopic repair was introduced using different techniques. To evaluate the clinical features of infants and children presenting with laryngeal clefts, and review endoscopic management modality especially the technique and results of repair using double-layer (2 layers) technique...
September 2017: Indian Journal of Otolaryngology and Head and Neck Surgery
https://www.readbyqxmd.com/read/28914624/management-of-type-i-and-type-ii-laryngeal-clefts-controversies-and-evidence
#8
Sarah N Bowe, Christopher J Hartnick
PURPOSE OF REVIEW: To summarize the pediatric Type I and Type II laryngeal cleft literature, paying special attention to recent trends, including evolution of surgical techniques, standardization of outcome assessments, and utilization of management algorithms. RECENT FINDINGS: There are a variety of options to choose from whenever considering Type I and Type II cleft repair, including endoscopic repair, transoral robotic surgery, and injection laryngoplasty. Conservative management including feeding therapy and treatment of comorbid medical conditions is recommended prior to repair...
December 2017: Current Opinion in Otolaryngology & Head and Neck Surgery
https://www.readbyqxmd.com/read/28910893/-pediatric-laryngeal-clefts-an-experience-in-the-diagnosis-and-management-of-13-cases
#9
Z B Wu, L Li, H G Pan, Z J Liang, Z X Xian, D L Zhang, Y S Teng, X Y Ma
Objective: To investigate the diagnosis and management of laryngeal cleft. Method: The clinical data of 13 cases of laryngeal cleft treated between 2007 and 2015 was analyzed retrospectively. Results: The children with laryngeal cleft were classified according to the classification of Benjamin-Inglis, as type Ⅰ(11 cases), typeⅡ(1 case) and type Ⅲ(1 case). All patients were confirmed by microlaryngobronchoscopy under general anaesthetic. Eleven typeⅠ and 1 type Ⅱ clefts were managed conservatively, with which all type Ⅰ patients were successfully managed, while the type Ⅱ patient was resolved by surgical endoscopy...
September 7, 2017: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/28910519/trans-nasal-flexible-bronchoscopy-in-wheezing-children-diagnostic-yield-impact-on-therapy-and-prevalence-of-laryngeal-cleft
#10
Richard P Boesch, Julie M Baughn, Shelagh A Cofer, Karthik Balakrishnan
AIM: Persistent or recurrent wheezing is a common indication for flexible bronchoscopy, as anatomic and infectious or inflammatory changes are highly prevalent. We sought to evaluate the prevalence of anatomic, infectious, and inflammatory disease in a cohort of children undergoing flexible bronchoscopy for wheezing or poorly controlled asthma. METHODS: We retrospectively reviewed all children <18 years old who underwent flexible bronchoscopy at our center from October 29, 2012-December 31, 2016 for the primary or secondary indication of wheezing (persistent, frequently recurring, or atypical) or poorly controlled asthma...
September 14, 2017: Pediatric Pulmonology
https://www.readbyqxmd.com/read/28688569/assessment-of-the-feeding-swallowing-impact-survey-as-a-quality-of-life-measure-in-children-with-laryngeal-cleft-before-and-after-repair
#11
M Shannon Fracchia, Gillian Diercks, Alisa Yamasaki, Cheryl Hersh, Stephen Hardy, Marina Hartnick, Christopher Hartnick
OBJECTIVE: To cross-validate the Feeding Swallowing Impact Survey (FSIS), a quality of life instrument, specifically to a subpopulation of children who aspirate due to laryngeal cleft. INTRODUCTION: The FSIS is a recently validated instrument used to describe caregiver quality of life (QOL) in children with aspiration due to various causes. To cross-validate the FSIS specifically to the subpopulation of children who aspirate due to laryngeal cleft, we tested the hypotheses that caregivers would report significant different scores form baseline if their children improved at the one year mark postintervention due to either successful conservative or surgical measures (discriminant validity) and would not report significant differences in their FSIS reporting if there was no change in their child's aspiration at the one year mark post intervention (convergent validity)...
August 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28688566/dysphagia-in-healthy-children-characteristics-and-management-of-a-consecutive-cohort-at-a-tertiary-centre
#12
Orysya Svystun, Wendy Johannsen, Rabin Persad, Justine M Turner, Carina Majaesic, Hamdy El-Hakim
OBJECTIVE: Whereas the literature is replete with reports on complex children with dysphagia (DP), the parameters characterizing non-neurologically impaired (NNI) children have been underreported, leaving a substantial knowledge gap. We set to characterize a consecutive cohort of NNI children, their management, and outcomes. METHODS: We undertook a retrospective case series. Children (<18 years old) attending a tertiary multidisciplinary swallowing clinic were eligible...
August 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28635036/time-driven-activity-based-costing-to-estimate-cost-of-care-at-multidisciplinary-aerodigestive-centers
#13
Jordan A Garcia, Bipin Mistry, Stephen Hardy, Mary Shannon Fracchia, Cheryl Hersh, Carissa Wentland, Joseph Vadakekalam, Robert Kaplan, Christopher J Hartnick
OBJECTIVES/HYPOTHESIS: Providing high-value healthcare to patients is increasingly becoming an objective for providers including those at multidisciplinary aerodigestive centers. Measuring value has two components: 1) identify relevant health outcomes and 2) determine relevant treatment costs. Via their inherent structure, multidisciplinary care units consolidate care for complex patients. However, their potential impact on decreasing healthcare costs is less clear. The goal of this study was to estimate the potential cost savings of treating patients with laryngeal clefts at multidisciplinary aerodigestive centers...
September 2017: Laryngoscope
https://www.readbyqxmd.com/read/28543621/morphological-characteristics-of-the-oropharyngeal-cavity-tongue-palate-and-laryngeal-entrance-in-the-eurasian-coot-fulica-atra-linnaeus-1758
#14
M M A Abumandour, N E R El-Bakary
The present study represents the first definitive anatomical description of the oropharyngeal cavity of the coot Fulica atra. For this purpose, the organs of six birds were prepared to examine grossly and by SEM and stereomicroscope. The oval lingual apex had multiple overlapping branched acicular processes on its anterior and lateral border. The lingual apex and body had multiple caudally directed filiform-like papillae. By stereomicroscopy, the lingual root had a characteristic appearance and consisted of four parts...
August 2017: Anatomia, Histologia, Embryologia
https://www.readbyqxmd.com/read/28483239/the-efficacy-and-safety-of-the-flexible-fiber-co2-laser-delivery-system-in-the-endoscopic-management-of-pediatric-airway-problems-our-long-term-experience
#15
Gi Soo Lee, Alexandra Irace, Reza Rahbar
OBJECTIVE: To report the use of flexible fiber CO2 laser in the endoscopic management of pediatric airway cases. METHODS: A retrospective review was conducted of patients who underwent CO2 laser-assisted airway procedures between September 2007 and January 2014 at a tertiary pediatric hospital. RESULTS: Sixty-eight patients underwent 80 procedures utilizing flexible fiber CO2 laser. Procedures included supraglottoplasty (n = 32), laryngeal cleft repair (type I [n = 10], type II [n = 7], type III [n = 6]), suprastomal granuloma excision (n = 6), cordotomy (n = 4), laryngeal neurofibroma excision (n = 4), laryngeal granulomatous mass excision (n = 1), subglottic stenosis excision (n = 6), division of glottic web (n = 2), subglottic cyst excision (n = 1), and supraglottic biopsy (n = 1)...
June 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28474959/is-a-multidisciplinary-aerodigestive-clinic-more-effective-at-treating-recalcitrant-aerodigestive-complaints-than-a-single-specialist
#16
Janine M Rotsides, Gina M Krakovsky, Dinesh K Pillai, Sona Sehgal, Maura E Collins, Carolyn E Noelke, Nancy M Bauman
OBJECTIVE: To determine the utility of a pediatric multidisciplinary aerodigestive clinic (ADC) in treating recalcitrant aerodigestive conditions. METHODS: Longitudinal observational study of presenting complaints, evaluation, management, and outcome of patients seen during 12 monthly ADCs beginning August 2013. RESULTS: Fifty-five patients were seen by the ADC team (otolaryngology/gastroenterology/pulmonology/speech pathology/nurse practitioner) and followed for a mean 17...
July 2017: Annals of Otology, Rhinology, and Laryngology
https://www.readbyqxmd.com/read/28384788/neurologic-evaluation-in-children-with-laryngeal-cleft
#17
Ryan D Walker, Alexandria L Irace, Margaret A Kenna, David K Urion, Reza Rahbar
Importance: Referral to a neurologist and imaging play important roles in the management of laryngeal cleft. Swallowing involves a complex series of neuromuscular interactions, and aspiration can result from anatomical causes (eg, laryngeal cleft), neuromuscular disorders, or some combination thereof. To date, no protocols or guidelines exist to identify which patients with laryngeal cleft should undergo neuroimaging studies and/or consultation with a neurologist. Objective: To establish guidelines for neurologic evaluation and imaging techniques to identify or rule out neuromuscular dysfunction in children with laryngeal cleft...
July 1, 2017: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/28356131/treatment-of-infants-with-syndromic-robin-sequence-with-modified-palatal-plates-a-minimally-invasive-treatment-option
#18
Silvia Müller-Hagedorn, Wolfgang Buchenau, Jörg Arand, Margit Bacher, Christian F Poets
BACKGROUND: Infants with Robin sequence (RS) suffer from upper airway obstruction (UAO) and feeding problems. We developed an oral appliance with a velar extension in combination with functional treatment and appropriate feeding techniques, which was proven effective in isolated RS. As the above problems are particularly challenging in syndromic RS, we set out to evaluate our treatment concept also in these patients. METHODS: We searched our electronic departmental database to identify all children admitted to our department between 01/01/2003 and 31/12/2009 because of syndromic RS...
March 30, 2017: Head & Face Medicine
https://www.readbyqxmd.com/read/28302228/anaesthetic-management-in-a-child-with-goldenhar-syndrome
#19
Waqas Ahmed Khan, Bushra Salim, Ausaf Ahmed Khan, Shakaib Chughtai
Goldenhar syndrome is a congenital disorder involving deformities of the face. It usually affects one side of the face only and poses significant challenges in the airway management. We herein, report an 8-year boy, known case of Goldenhar syndrome, who presented to our radiology suite for a magnetic resonance imaging (MRI) brain, followed by a computed tomography (CT) scan brain. The boy had various features of Goldenhar syndrome, e.g. cleft palate, absent right eye and ear, right mandibular hypoplasia, micrognathia, and preauricular tags...
March 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28098610/images-in-anesthesiology-laryngeal-cleft
#20
Rose J Eapen, Brad M Taicher, Eric Benner, Kelly Machovec
No abstract text is available yet for this article.
February 2017: Anesthesiology
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