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Pierre Robin Syndrome

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https://www.readbyqxmd.com/read/29791187/a-single-lab-test-to-aid-pierre-robin-sequence-severity-diagnosis
#1
Artur Fahradyan, Beina Azadgoli, Michaela Tsuha, Mark M Urata, Stacey H Francis
OBJECTIVE: The workup of patients with Pierre Robin sequence (PRS) consists of a physical examination, O2 saturation, and polysomnography to determine the severity of respiratory obstruction and need for surgery. We suggest that capillary blood gas (CBG) may be a better physiologic representation of airway obstruction and should be routinely used in the management of patients with PRS. DESIGN: This is a multicenter study based on a retrospective review of medical records...
January 1, 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29777780/pierre-robin-sequence-a-comprehensive-narrative-review-of-the-literature-over-time
#2
Amerigo Giudice, Selene Barone, Kahina Belhous, Anne Morice, Véronique Soupre, Francesco Bennardo, Nathalie Boddaert, Marie-Paule Vazquez, Véronique Abadie, Arnaud Picard
Pierre Robin syndrome (PRS) is characterized of a triad of clinical signs: micrognathia, glossoptosis and obstruction of the upper airways frequently associated with palatal cleft. It is a heterogenic pathological entity and it can be found as isolated disease (nsPRS) or in association with other syndromes (sPRS), with more pronounced symptoms and systemic involvement. This review aims to summarize the principal features of PRS, analysing the different aspects of the disease. Epidemiological data highlight incidence, severity and mortality of PRS; pathophysiological mechanism reports the etiology and pathogenesis of the disease distinguishing between isolated and syndromic form...
May 16, 2018: Journal of Stomatology, Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29708799/combined-tongue-palate-fusion-with-alveolar-bands-in-a-patient-with-pierre-robin-sequence-and-van-der-woude-syndrome
#3
Alexa Robbins, Yuri A Zarate, Larry D Hartzell
This report describes the presentation of a newborn male with circumferential tongue-palate fusion associated with cleft palate and alveolar bands. After intraoral adhesions lysis, the patient was diagnosed with Pierre Robin sequence. A family history of cleft lip and palate was noted, and interferon regulatory factor 6 ( IRF6) sequencing revealed a heterozygous variant, confirming the diagnosis of van der Woude syndrome. The disruption of IRF6 resulted in abnormal orofacial development including micrognathia and intraoral adhesions as well as tongue-palate fusion, then resulting in glossoptosis with airway obstruction and cleft palate...
January 1, 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29707444/applications-of-computer-technology-in-complex-craniofacial-reconstruction
#4
Kristopher M Day, Kyle S Gabrick, Larry A Sargent
Background: To demonstrate our use of advanced 3-dimensional (3D) computer technology in the analysis, virtual surgical planning (VSP), 3D modeling (3DM), and treatment of complex congenital and acquired craniofacial deformities. Methods: We present a series of craniofacial defects treated at a tertiary craniofacial referral center utilizing state-of-the-art 3D computer technology. All patients treated at our center using computer-assisted VSP, prefabricated custom-designed 3DMs, and/or 3D printed custom implants (3DPCI) in the reconstruction of craniofacial defects were included in this analysis...
March 2018: Plastic and Reconstructive Surgery. Global Open
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
#5
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/29627422/predictors-of-failure-in-infant-mandibular-distraction-osteogenesis
#6
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/29554444/predicting-adverse-perioperative-events-in-patients-undergoing-primary-cleft-palate-repair
#7
Marten N Basta, John E Fiadjoe, Albert S Woo, Kenneth N Peeples, Oksana A Jackson
OBJECTIVE: This study aimed to identify risk factors for adverse perioperative events (APEs) after cleft palatoplasty to develop an individualized risk assessment tool. DESIGN: Retrospective cohort. SETTING: Tertiary institutional. PATIENTS: Patients younger than 2 years with cleft palate. INTERVENTIONS: Primary Furlow palatoplasty between 2008 and 2011. MAIN OUTCOME MEASURE(S): Adverse perioperative event, defined as laryngo- or bronchospasm, accidental extubation, reintubation, obstruction, hypoxia, or unplanned intensive care unit admission...
April 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29554066/an-algorithm-for-airway-management-in-patients-with-pierre-robin-sequence
#8
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/29485558/robin-sequence-continuing-heterogeneity-in-nomenclature-and-diagnosis
#9
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/29317143/predictors-of-speech-outcomes-in-children-with-pierre-robin-sequence
#10
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/29195837/evaluation-of-the-efficacy-of-tongue-lip-adhesion-in-pierre-robin-sequence
#11
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
#12
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/29037902/cogan-syndrome-characteristics-outcome-and-treatment-in-a-french-nationwide-retrospective-study-and-literature-review
#13
REVIEW
Charlotte Durtette, Eric Hachulla, Matthieu Resche-Rigon, Thomas Papo, Thierry Zénone, Bertrand Lioger, Christophe Deligny, Marc Lambert, Cédric Landron, Jacques Pouchot, Jean Emmanuel Kahn, Christian Lavigne, Benoit De Wazieres, Robin Dhote, Guillaume Gondran, Edouard Pertuiset, Thomas Quemeneur, Mohamed Hamidou, Pascal Sève, Thomas Le Gallou, Anne Grasland, Pierre-Yves Hatron, Olivier Fain, Arsène Mekinian
BACKGROUND: Cogan syndrome is mainly treated with steroids. We aimed to determine the place of DMARDs and biologic-targeted treatments. PATIENTS AND METHODS: We conducted a French nationwide retrospective study of patients with Cogan syndrome (n=40) and a literature review of cases (n=22) and analyzed the efficacy of disease-modifying anti-rheumatic drugs (DMARDs) and tumor necrosis factor α (TNF-α) antagonists. RESULTS: We included 62 patients (31 females) (median age 37years [range 2-76]...
December 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/29026807/airway-management-in-pierre-robin-sequence-the-vancouver-classification
#14
Wai-Yee Li, Alana Poon, Douglas Courtemanche, Cynthia Verchere, Sandra Robertson, Marija Bucevska, Claudia Malic, Jugpal S Arneja
BACKGROUND: Pierre Robin sequence (PRS) is a triad of micrognathia, glossoptosis, and respiratory distress. There is no standard clinical classification used in the management of neonatal airway in patients with PRS. The goal of our study was to review the presentation and management of patients with PRS and formulate a clinical grading system and treatment algorithm. METHODS: A 10-year retrospective review of all neonates diagnosed with PRS was performed after obtaining institutional ethics approval...
February 2017: Plastic Surgery
https://www.readbyqxmd.com/read/28919757/once-monthly-paliperidone-palmitate-in-early-stage-schizophrenia-a-retrospective-non-interventional-1-year-study-of-patients-with-newly-diagnosed-schizophrenia
#15
Robin Emsley, Ludger Hargarter, Paul Bergmans, Boran Uglešić, Abdullah Cem Sengül, Antonino Petralia, Angelina Khannanova, Pierre Cherubin, Andreas Schreiner
BACKGROUND: Long-acting antipsychotic therapy may be best suited for patients in the early stage of schizophrenia, when the most can be done before disease progression associated with poor adherence occurs. We explored the patterns of use of once-monthly paliperidone palmitate (PP1M), concomitant medication use, hospitalization, and clinical outcomes of adult, newly diagnosed patients with schizophrenia receiving continuous treatment with PP1M for at least 12 months. METHODS: This was an international, multicenter, exploratory, retrospective chart review of medical records of adult patients who were newly diagnosed (not more than 1 year before initiation of PP1M treatment) with schizophrenia and who had received continuous treatment with PP1M for ≥12 months in naturalistic clinical settings...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28905878/detecting-splicing-patterns-in-genes-involved-in-hereditary-breast-and-ovarian-cancer
#16
Grégoire Davy, Antoine Rousselin, Nicolas Goardon, Laurent Castéra, Valentin Harter, Angelina Legros, Etienne Muller, Robin Fouillet, Baptiste Brault, Anna S Smirnova, Fréderic Lemoine, Pierre de la Grange, Marine Guillaud-Bataille, Virginie Caux-Moncoutier, Claude Houdayer, Françoise Bonnet, Cécile Blanc-Fournier, Pascaline Gaildrat, Thierry Frebourg, Alexandra Martins, Dominique Vaur, Sophie Krieger
Interpretation of variants of unknown significance (VUS) is a major challenge for laboratories performing molecular diagnosis of hereditary breast and ovarian cancer (HBOC), especially considering that many genes are now known to be involved in this syndrome. One important way these VUS can have a functional impact is through their effects on RNA splicing. Here we present a custom RNA-Seq assay plus bioinformatics and biostatistics pipeline to analyse specifically alternative and abnormal splicing junctions in 11 targeted HBOC genes...
October 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28790548/a-giant-heart-tumor-in-neonate-with-clinical-signs-of-pierre-robin-syndrome
#17
Ramush Bejiqi, Ragip Retkoceri, Hana Xhema-Bejiqi, Rinor Bejiqi, Arlinda Maloku
INTRODUCTION: Pierre Robin syndrome is a congenital condition of facial abnormalities in humans. The three main features are: cleft palate, retrognathia and glossoptosis. Rarely heart tumors are associated with syndromes, mostly are isolated. CASE REPORT: In this presentation we describe a 3-weeks-old girl with Pierre-Robin syndrome and giant left ventricle tumor, diagnosed initially by transthoracic echocardiography. The purpose of this report is to review the literature on the fetuses and neonates with cardiac tumors in an attempt to determine the various ways which cardiac tumors differ clinically and morphologically in this age group...
April 2017: Medical Archives
https://www.readbyqxmd.com/read/28713498/identical-twins-with-pierre-robin-syndrome-unusual-encounter
#18
Nabil Shdaifat, Zaid Al-Zoubi, Hazem Khraisat, Rana Al-Omor, Khaled Matar
New born babies could suffer from multiple craniofacial abnormalities, such as Pierre Robin syndrome, which consists of micrognathia and relative macroglossia with or without cleft palate. Although Pierre Robin syndrome is well described in literature, only a few have mentioned its occurrence in identical twins. This paper presents a rare incident of full-term twin babies born with the sequence of Pierre Robin syndrome, which consists of micrognathia, cleft palate, and glossoptosis. Although it is a rare coincidence, Pierre Robin syndrome still can occur in identical twin babies...
May 2017: Electronic Physician
https://www.readbyqxmd.com/read/28557592/ameloblastic-fibro-odontoma-of-the-maxilla-in-a-pierre-robin-sequence-patient
#19
Kenneth Kufta, Steve Kang, Faizan Alawi, Anna Moran, Neeraj Panchal
INTRODUCTION: Pierre Robin sequence (PRS) is a rare disorder classically observed as a triad of features including micrognathia, glossoptosis, and upper airway obstruction. It is associated with a syndrome in about 60% of cases. While odontogenic tumors are common findings in patients with familial adenomatous polyposis and nevoid basal cell carcinoma syndromes, PRS has not been found to be consistently associated with any tumors of the jaw. CASE REPORT: The current report aims to describe a patient with PRS who presented with an extensive ameloblastic fibro-odontoma (AFO) of the maxilla...
October 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28538051/mobius-syndrome-a-35-year-single-institution-experience
#20
Philip K McClure, Eray Kilinc, Scott Oishi, Anthony I Riccio, Lori A Karol
BACKGROUND: Mobius syndrome is a rare syndrome that is known to be associated with a variety of orthopaedic conditions including scoliosis, clubfoot, transverse limb deficiencies, Poland syndrome, and a myriad of hand conditions. To date, no large series exist to characterize the orthopaedic manifestations of Mobius syndrome. METHODS: Medical records at a single tertiary pediatric institution were reviewed for all patients diagnosed with Mobius syndrome from January 1, 1980 to December 31, 2015...
October 2017: Journal of Pediatric Orthopedics
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