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Pierre Robin Sequence

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https://www.readbyqxmd.com/read/29664868/active-transcutaneous-bone-conduction-implant-middle-fossa-placement-technique-in-children-with-bilateral-microtia-and-external-auditory-canal-atresia
#1
Carolina Der, Sofía Bravo-Torres, Nicolás Pons
AIM: The aim of this study is to present the middle fossa technique (MFT) as an alternative for patients who cannot undergo traditional surgery for active transcutaneous bone conduction implants (ATBCI) due to their altered anatomy or desire for future aesthetic reconstruction. DESIGN: A case series descriptive study was designed. The MFT was developed. Preoperative and postoperative information from 24 patients with external auditory canal atresia (EACA) and implanted with ATBCI was reviewed...
April 16, 2018: Otology & Neurotology
https://www.readbyqxmd.com/read/29643641/pierre-robin-sequence-with-cervicothoracic-kyphoscoliosis-an-anesthetic-challenge
#2
V Abraham, S Grewal, G Bhatia, N Kaur, W Raghav, P Jain, N Gupta, M Singh, C George
No abstract text is available yet for this article.
January 2018: Journal of Anaesthesiology, Clinical Pharmacology
https://www.readbyqxmd.com/read/29642420/ebna1-oncogenic-activity-immune-evasion-and-biochemical-functions-provide-targets-for-novel-therapeutic-strategies-against-epstein-barr-virus-associated-cancers
#3
REVIEW
Joanna B Wilson, Evelyne Manet, Henri Gruffat, Pierre Busson, Marc Blondel, Robin Fahraeus
The presence of the Epstein-Barr virus (EBV)-encoded nuclear antigen-1 (EBNA1) protein in all EBV-carrying tumours constitutes a marker that distinguishes the virus-associated cancer cells from normal cells and thereby offers opportunities for targeted therapeutic intervention. EBNA1 is essential for viral genome maintenance and also for controlling viral gene expression and without EBNA1, the virus cannot persist. EBNA1 itself has been linked to cell transformation but the underlying mechanism of its oncogenic activity has been unclear...
April 6, 2018: Cancers
https://www.readbyqxmd.com/read/29627422/predictors-of-failure-in-infant-mandibular-distraction-osteogenesis
#4
Jeffrey A Hammoudeh, Artur Fahradyan, Colin Brady, Michaela Tsuha, Beina Azadgoli, Sally Ward, Mark M Urata
PURPOSE: Mandibular distraction osteogenesis (MDO) has been shown to be successful in treating upper airway obstruction caused by micrognathia in pediatric patients. The purpose of this study was to assess the success rate of MDO and possible predictors of failure. PATIENTS AND METHODS: The records of all neonates and infants who underwent MDO from 2008 to 2015 were retrospectively reviewed. Procedural failure was defined as patient death or the need for tracheostomy postoperatively...
March 15, 2018: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29554066/an-algorithm-for-airway-management-in-patients-with-pierre-robin-sequence
#5
Katherine E Hicks, Kathleen R Billings, Chad A Purnell, John M Carter, Bharat Bhushan, Arun K Gosain, Dana M Thompson, Jeffrey C Rastatter
PURPOSE: Airway management in neonates with Pierre Robin sequence (PRS) can be challenging. The goal was to describe the algorithm developed by the authors over the past 8 years. METHODS: A retrospective case series analyzing airway management in neonates with PRS admitted to the neonatal intensive care unit at a tertiary care pediatric hospital was performed. The utility of the proposed algorithm for airway management incorporating more consistent use of polysomnography (PSG), and airway assessment was assessed...
March 16, 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29489401/cervical-spine-injury-from-unrecognized-craniocervical-instability-in-severe-pierre-robin-sequence-associated-with-skeletal-dysplasia
#6
Xiao Zhu, Kelly N Evans, Areeg El-Gharbawy, Jonathan Y Lee, Jack E Brooker, Noel Jabbour, Elizabeth C Tyler-Kabara, Suneeta Madan-Khertarpal, Joseph E Losee, Jesse A Goldstein
Pierre Robin Sequence (PRS) can be associated with skeletal dysplasias, presenting with craniocervical instability and devastating spinal injury if unrecognized. The authors present the case of an infant with PRS and a type II collagenopathy who underwent multiple airway-securing procedures requiring spinal manipulation before craniocervical instability was identified. This resulted in severe cervical cord compression due to odontoid fracture and occipitoatlantoaxial instability. This case highlights the importance of early cervical spine imaging and cautious manipulation in infants with PRS and suspected skeletal dysplasia...
January 1, 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29485558/robin-sequence-continuing-heterogeneity-in-nomenclature-and-diagnosis
#7
Daan P F van Nunen, Marie-José H van den Boogaard, Corstiaan C Breugem
OBJECTIVE: Heterogeneity in both nomenclature and diagnostic criteria has hindered the interpretation of research into the congenital condition most widely known as (Pierre) Robin syndrome or sequence. In 2009, the discussion regarding its diagnosis and nosology was reopened to converge on a uniform eponym and standard set of diagnostic criteria. The objective of this study was to assess the impact of this debate. MATERIALS AND METHODS: This is a retrospective review of the nomenclature and diagnostic criteria employed in studies about this condition that were indexed in the MEDLINE literature database (PubMed) and published during 2009 to 2016...
February 26, 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29456481/double-interstitial-deletion-of-the-long-arm-of-chromosome-6-in-a-patient-with-pierre-robin-sequence-dysmorphisms-and-severe-developmental-delay
#8
Giulia Parmeggiani, Stefania Bigoni, Barbara Buldrini, Giampaolo Garani, Luigi Clauser, Manilo Galiè, Alessandra Ferlini, Sergio Fini
Reported here is the case of a 1.8-year-old boy with a 9.6- Mb deletion in 6q13q14.1 and an 11.2-Mb deletion in 6q21q22.31, ascertained through array CGH, as the result of a complex de novo chromosome rearrangement. The clinical picture of this patient is characterized by severe psychomotor delay, dysmorphic features, and some congenital defects. Although, as reported in the literature, phenotypes associated with 6q deletions may vary, an attempt was made to associate the patient's symptoms to either deletion, comparing them to previously reported cases...
December 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29447809/difficult-airway-intubation-simulation-using-bonfils-fiberscope-and-rigid-fiberscope-for-surgical-training
#9
Harish Dharmarajan, Yi-Chun Carol Liu, Helena Karlberg Hippard, Binoy Chandy
INTRODUCTION: Pediatric otolaryngologists are frequently called to assist in difficult airway management in newborns with Pierre Robin Sequence (PRS) who have microretrognathia, glossoptosis, and an anterior larynx. The Bonfils fiberscope (BF) is a curved rigid scope designed to provide superior visualization in the anterior larynx. OBJECTIVE: (1) to assess whether BF provides an improvement in intubation success rate, time to intubation, or airway visualization as compared to rigid fiberscope (RF) in a difficult airway simulation setting and (2) to determine whether a training program for BF can improve time to intubation through practice trials...
February 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29446988/diagnosing-tongue-base-obstruction-in-pierre-robin-sequence-infants-sleep-vs-awake-endoscopy
#10
Jake J Lee, Matthew D Ford, Allison B Tobey, Noel Jabbour
OBJECTIVE: To investigate whether awake endoscopy can diagnose base-of-tongue obstruction as reliably as sleep endoscopy in infants with Pierre Robin sequence (PRS). DESIGN: The study was retrospective with the clinicians blinded to patient identity. Endoscopy findings were assessed and measured by the performing pediatric otolaryngologist. SETTING: Tertiary care children's hospital. PATIENTS: All infants with PRS managed between January 2005 and July 2015 were included...
January 1, 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29317143/predictors-of-speech-outcomes-in-children-with-pierre-robin-sequence
#11
Anne Morice, Francis Renault, Véronique Soupre, Cécile Chapuis, Chantal Trichet Zbinden, Natacha Kadlub, Amerigo Giudice, Marie-Paule Vazquez, Arnaud Picard
BACKGOUND: Pierre Robin sequence (PRS) has worse speech outcomes than isolated cleft palate. We aimed to search for possible associations of phonological outcomes with PRS status (isolated vs syndromic), clinical severity, soft palate muscles deficiency, or surgical procedure. METHODS: We designed a retrospective study of 130 children (male/female ratio: 0.4) with isolated (96) or syndromic (34) PRS with cleft palate. Grading systems were used to classify retrognathia, glossoptosis, and respiratory and feeding disorders...
March 2018: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/29222685/prediction-of-outcome-using-pretreatment-18-f-fdg-pet-ct-and-mri-radiomics-in-locally-advanced-cervical-cancer-treated-with-chemoradiotherapy
#12
François Lucia, Dimitris Visvikis, Marie-Charlotte Desseroit, Omar Miranda, Jean-Pierre Malhaire, Philippe Robin, Olivier Pradier, Mathieu Hatt, Ulrike Schick
PURPOSE: The aim of this study is to determine if radiomics features from18 fluorodeoxyglucose (FDG) positron emission tomography/computed tomography (PET/CT) and magnetic resonance imaging (MRI) images could contribute to prognoses in cervical cancer. METHODS: One hundred and two patients (69 for training and 33 for testing) with locally advanced cervical cancer (LACC) receiving chemoradiotherapy (CRT) from 08/2010 to 12/2016 were enrolled in this study.18 F-FDG PET/CT and MRI examination [T1, T2, T1C, diffusion-weighted imaging (DWI)] were performed for each patient before CRT...
December 9, 2017: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/29216230/a-comprehensive-scoring-system-in-correlation-with-perioperative-airway-management-for-neonatal-pierre-robin-sequence
#13
Ning Yin, Lei Fang, Xiaohua Shi, Hongqiang Huang, Li Zhang
PURPOSE: To evaluate a comprehensive scoring system which combines clinical manifestations of Pierre Robin Sequence (PRS) including severity of breathing difficulties, body weight and preoperative Cormack-Lehane grade, for its correlation with perioperative PRS airway management decision. DESIGN: Forty PRS children were retrospectively recruited after surgery. Specialists examined all subjects and scored for clinical manifestations (1´ - 4´), weight gain (1´- 4´), dyspnea scores (1´- 4´), and Cormack-Lehane grade (1´- 4´)...
2017: PloS One
https://www.readbyqxmd.com/read/29215441/pierre-robin-sequence-an-evidence-based-treatment-proposal
#14
Oswaldo J Gómez, Oscar I Barón, Martha L Peñarredonda
BACKGROUND: The Pierre Robin sequence (PRS) has been defined as the presence of micrognathia, glossoptosis, and respiratory obstruction in the neonatal period. Since its original description, different therapeutic approaches have been proposed obtaining different success rates, but there is no consensus about its management. METHODS: A literature review was conducted in PubMed, Embase, and Cochrane databases, for the period of January,1985 to November, 2016. A number of 23 articles resulting from clinical studies, discussing diagnostic tests or therapeutic approaches, and directly or indirectly comparing diagnostic or treatment modalities were selected and assessed using the GRADE methodology...
March 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29210721/technique-utilizing-a-modified-oral-ring-adair-elwyn-tube-to-provide-continuous-oxygen-and-sevoflurane-delivery-during-nasotracheal-intubation-in-an-infant-with-a-difficult-airway-a-case-report
#15
Janice Y Man, John E Fiadjoe, Grace Hsu
Managing the airway of an infant with Pierre Robin sequence (PRS) is particularly challenging for anesthesiologists. Patients with PRS have the triad of micrognathia, glossoptosis, and airway obstruction that potentially and frequently leads to difficulty with both ventilation and intubation. Thus continuous oxygenation and spontaneous ventilation during intubation are essential. We describe a new method to deliver continuous oxygen and volatile anesthetic during nasotracheal intubation in an infant with PRS...
November 27, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/29195837/evaluation-of-the-efficacy-of-tongue-lip-adhesion-in-pierre-robin-sequence
#16
H Broucqsault, M-D Lamblin, G Hosana, P Fayoux
OBJECTIVE: Tongue-lip adhesion may be used to relieve obstructive sleep apnoea in infants with Pierre Robin sequence (PRS), but only a few studies have objectively evaluated its efficacy. The purpose of this study was to evaluate the results of tongue-lip adhesion by polysomnography. MATERIEL AND METHODS: A single-centre retrospective study was conducted in infants with PRS treated by tongue-lip adhesion from 2004 to 2015, in whom at least laryngotracheal endoscopy and polysomnography were performed...
November 28, 2017: European Annals of Otorhinolaryngology, Head and Neck Diseases
https://www.readbyqxmd.com/read/29159987/med13l-loss-of-function-variants-in-two-patients-with-syndromic-pierre-robin-sequence
#17
Christopher T Gordon, Maya Chopra, Myriam Oufadem, Olivier Alibeu, Marc Bras, Nathalie Boddaert, Christine Bole-Feysot, Patrick Nitschké, Véronique Abadie, Stanislas Lyonnet, Jeanne Amiel
We report two unrelated patients with Pierre Robin sequence (PRS) and a strikingly similar combination of associated features. Whole exome sequencing was performed for both patients. No single gene containing likely pathogenic point mutations in both patients could be identified, but the finding of an essential splice site mutation in mediator complex subunit 13 like (MED13L) in one patient prompted the investigation of copy number variants in MED13L in the other, leading to the identification of an intragenic deletion...
January 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29155841/habitat-and-soil-related-drivers-of-the-root-associated-fungal-community-of-quercus-suber-in-the-northern-moroccan-forest
#18
Fatima Zahra Maghnia, Younes Abbas, Frédéric Mahé, Benaissa Kerdouh, Estelle Tournier, Mohamed Ouadji, Pierre Tisseyre, Yves Prin, Naïma El Ghachtouli, Salah Eddine Bakkali Yakhlef, Robin Duponnois, Hervé Sanguin
Soil fungi associated with plant roots, notably ectomycorrhizal (EcM) fungi, are central in above- and below-ground interactions in Mediterranean forests. They are a key component in soil nutrient cycling and plant productivity. Yet, major disturbances of Mediterranean forests, particularly in the Southern Mediterranean basin, are observed due to the greater human pressures and climate changes. These disturbances highly impact forest cover, soil properties and consequently the root-associated fungal communities...
2017: PloS One
https://www.readbyqxmd.com/read/29084117/a-review-of-randomized-controlled-trials-in-cleft-and-craniofacial-surgery
#19
Jonathan M Bekisz, Elise Fryml, Roberto L Flores
This study presents a systematic review of randomized controlled trials (RCTs) in cleft and craniofacial surgery. All studies reporting on RCTs in cleft and craniofacial surgery were identified on PubMed using the search terms "cleft," "velopharyngeal insufficiency," "velopharyngeal dysfunction," "nasoalveolar molding," "gingivoperiosteoplasty," "Pierre Robin sequence," "craniofacial," "craniosynostosis," "craniofacial microsomia," "hemifacial microsomia," "hypertelorism," "Le Fort," "monobloc," "distraction osteogenesis," "Treacher Collins," and "Goldenhar...
October 27, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29069271/intensive-treatment-of-speech-disorders-in-robin-sequence-a-case-report
#20
Maria Daniela Borro Pinto, Maria Inês Pegoraro-Krook, Laura Katarine Félix de Andrade, Ana Paula Carvalho Correa, Linda Iris Rosa-Lugo, Jeniffer de Cássia Rillo Dutka
PURPOSE: To describe the speech of a patient with Pierre Robin Sequence (PRS) and severe speech disorders before and after participating in an Intensive Speech Therapy Program (ISTP). METHODS: The ISTP consisted of two daily sessions of therapy over a 36-week period, resulting in a total of 360 therapy sessions. The sessions included the phases of establishment, generalization, and maintenance. A combination of strategies, such as modified contrast therapy and speech sound perception training, were used to elicit adequate place of articulation...
October 23, 2017: CoDAS
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