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JOURNAL ARTICLE
James Butterfield, Megan Pencek, Keith Sweitzer, Eileen Marrinan, Heidi Connolly, Sara Neimanis, Clinton Morrison
BACKGROUND: Pharyngeal flap (PF) surgery is effective at improving velopharyngeal sufficiency, but historical literature shows a concerning prevalence rate of obstructive sleep apnea (OSA), reported as high as 20%. Our institution has developed a protocol to minimize risk of postoperative obstructive complications and increase safety of PF surgery. We hypothesize that (1) preoperative staged removal of significant adenotonsillar tissue along with (2) multiview videofluoroscopy to guide patient-specific surgical approach via appropriately sized PFs can result in excellent speech outcomes while limiting occurrence of OSA...
April 1, 2024: Annals of Plastic Surgery
#2
JOURNAL ARTICLE
Harrison Theile, Yun Phua, Stuart Bade, Susan O'Mahony, Jasneek Chawla, Sadasivam Suresh, Richard Theile
PURPOSE: Pierre-Robin Sequence (PRS) is a congenital abnormality characterized by micrognathia, glossoptosis, and variable severity upper airway obstruction. Clear management algorithms are lacking, particularly the indications for surgical versus nonsurgical intervention. The authors reviewed the management of these children in Queensland. METHODS: All children diagnosed with PRS at Queensland Children's Hospital from April 2014 to October 2019 were identified (n=45), and their charts were retrospectively reviewed...
March 27, 2024: Journal of Craniofacial Surgery
#3
JOURNAL ARTICLE
Soubia Akhtar, Muhammad Wasif, Yumna Afzal, Iqra Shahab, Rahim Dhanani, Abdul Rauf Shaikh
Pierre Robin Sequence (PRS), a rare congenital disorder, is a triad of micrognathia, glossoptosis, and tongue based airway obstruction (TBSO). It may occur as isolated anomaly (iPRS) or as a part of a syndrome (sPRS), like that seen in association with Stickler Syndrome. Approximately 20% of children with PRS have congenital heart diseases. To the best of our knowledge this case of a one-day old infant is the first one to be reported as having two heart defects; patent ductus arteriosus and patent foramen ovale in Pierre Robbin Sequence child...
February 2024: Indian Journal of Otolaryngology and Head and Neck Surgery
#4
JOURNAL ARTICLE
Catherine Beaumont, Audrey Bellerive, Anne-Sophie Julien, Jacques E Leclerc
OBJECTIVES: 1. To assess the skeletal class occlusion and lateral cephalometry in children with isolated cleft palates (non-Robin sequence) and 2. to identify associations between these findings and pre-palatoplasty cleft palate measurements. STUDY DESIGN: Retrospective cohort study. SETTING: North American Institutional Tertiary Paediatric Center. PATIENTS: Our cleft database was reviewed, and patients were included if they had an isolated cleft palate without a Robin Sequence diagnosis, had a Furlow palatoplasty and had available per operative cleft palate measurements and available lateral cephalogram between 6 and 8 years old...
February 22, 2024: Cleft Palate-craniofacial Journal
#5
JOURNAL ARTICLE
Thom Dang Hoang, Huan T Nguyen, Christopher M Runyan, Son Tran, Lam Vu, Phuong D Nguyen
OBJECTIVE: Though it has made significant strides, Vietnam remains a resource-constrained country of 98 million people. Vietnam National Children's Hospital (VNCH) provides tertiary care to a catchment of 40 million people and is the sole national children's hospital. As such, it is one of the few referral centers in the country equipped to take care of patients diagnosed with Pierre Robin sequence (PRS) as this requires pulmonary, critical care, otolaryngology, and plastic surgery expertise...
January 17, 2024: Journal of Craniofacial Surgery
#6
JOURNAL ARTICLE
Anna-Lena Neehus, Brenna Carey, Marija Landekic, Patricia Panikulam, Gail Deutsch, Masato Ogishi, Carlos A Arango-Franco, Quentin Philippot, Mohammadreza Modaresi, Iraj Mohammadzadeh, Melissa Corcini Berndt, Darawan Rinchai, Tom Le Voyer, Jérémie Rosain, Mana Momenilandi, Marta Martin-Fernandez, Taushif Khan, Jonathan Bohlen, Ji Eun Han, Alexandre Deslys, Mathilde Bernard, Tania Gajardo-Carrasco, Camille Soudée, Corentin Le Floc'h, Mélanie Migaud, Yoann Seeleuthner, Mi-Sun Jang, Eirini Nikolouli, Simin Seyedpour, Hugues Begueret, Jean-François Emile, Pierre Le Guen, Guido Tavazzi, Costanza Natalia Julia Colombo, Federico Capra Marzani, Micol Angelini, Francesca Trespidi, Stefano Ghirardello, Nasrin Alipour, Anne Molitor, Raphael Carapito, Mohsen Mazloomrezaei, Hassan Rokni-Zadeh, Majid Changi-Ashtiani, Chantal Brouzes, Pablo Vargas, Alessandro Borghesi, Nico Lachmann, Seiamak Bahram, Bruno Crestani, Susanta Pahari, Larry S Schlesinger, Nico Marr, Dusan Bugonovic, Stéphanie Boisson-Dupuis, Vivien Béziat, Laurent Abel, Raphael Borie, Lisa R Young, Robin Deterding, Mohammad Shahrooei, Nima Rezaei, Nima Parvaneh, Daniel Craven, Philippe Gros, Danielle Malo, Fernando E Sepulveda, Lawrence M Nogee, Nathalie Aladjidi, Bruce C Trapnell, Jean-Laurent Casanova, Jacinta Bustamante
We describe a human lung disease caused by autosomal recessive, complete deficiency of the monocyte chemokine receptor C-C motif chemokine receptor 2 (CCR2). Nine children from five independent kindreds have pulmonary alveolar proteinosis (PAP), progressive polycystic lung disease, and recurrent infections, including bacillus Calmette Guérin (BCG) disease. The CCR2 variants are homozygous in six patients and compound heterozygous in three, and all are loss-of-expression and loss-of-function. They abolish CCR2-agonist chemokine C-C motif ligand 2 (CCL-2)-stimulated Ca2+ signaling in and migration of monocytic cells...
December 20, 2023: Cell
#7
JOURNAL ARTICLE
Giulia Trotta, Victoria Rodriguez, Diego Quattrone, Edoardo Spinazzola, Giada Tripoli, Charlotte Gayer-Anderson, Tom P Freeman, Hannah E Jongsma, Lucia Sideli, Monica Aas, Simona A Stilo, Caterina La Cascia, Laura Ferraro, Daniele La Barbera, Antonio Lasalvia, Sarah Tosato, Ilaria Tarricone, Giuseppe D'Andrea, Andrea Tortelli, Franck Schürhoff, Andrei Szöke, Baptiste Pignon, Jean-Paul Selten, Eva Velthorst, Lieuwe de Haan, Pierre-Michel Llorca, Paulo Rossi Menezes, Cristina M Del Ben, Jose Luis Santos, Manuel Arrojo, Julio Bobes, Julio Sanjuán, Miquel Bernardo, Celso Arango, James B Kirkbride, Peter B Jones, Alexander Richards, Bart P Rutten, Jim Van Os, Isabelle Austin-Zimmerman, Zhikun Li, Craig Morgan, Pak C Sham, Evangelos Vassos, Chloe Wong, Richard Bentall, Helen L Fisher, Robin M Murray, Luis Alameda, Marta Di Forti
BACKGROUND: Childhood adversity and cannabis use are considered independent risk factors for psychosis, but whether different patterns of cannabis use may be acting as mediator between adversity and psychotic disorders has not yet been explored. The aim of this study is to examine whether cannabis use mediates the relationship between childhood adversity and psychosis. METHODS: Data were utilised on 881 first-episode psychosis patients and 1231 controls from the European network of national schizophrenia networks studying Gene-Environment Interactions (EU-GEI) study...
November 2023: Psychological Medicine
#8
JOURNAL ARTICLE
Dang Hoang Thom, Vu Ngoc Lam, Tran Thiet Son
The purpose of this study was to provide the experience of a single center with mandibular distraction osteogenesis (MDO) in Pierre Robin Sequence (PRS) patients. A longitudinal research analysis was conducted to identify PRS patients who underwent MDO at Vietnam National Children's Hospital between 2019 and 2021. The following criteria were used to determine inclusion: 1) those pediatric patients with PRS who were not well handled with conservative therapy, 2) those who received MDO with internal mandibular distractors, and 3) no previous treatment elsewhere...
November 16, 2023: Kobe Journal of Medical Sciences
#9
JOURNAL ARTICLE
S Rajasekaran, K Priya, D Balaji, R Karthika
UNLABELLED: Certain congenital craniofacial malformations can cause upper airway obstruction. Due to neurological involvement, these craniofacial deformities with upper airway blockage frequently require tracheostomy. Children who need weeks or months of continuous ventilator assistance require tracheostomies, which improve pulmonary toilet and decrease laryngotracheal lesions such subglottic stenosis and tracheomalacia. In this case report we will be discussing about two patients who underwent Pediatric tracheostomy for Pierre Robin sequence and supraglottic stenosis in our institute...
December 2023: Indian Journal of Otolaryngology and Head and Neck Surgery
#10
REVIEW
Petra Knechtel, Christina Weismann, Christian F Poets
The Tübingen Palatal Plate (TPP) is a minimally invasive yet highly effective functional orthodontic treatment for upper airway obstruction in infants with Robin Sequence (RS). It consists of a palatal plate to cover the cleft and a velar extension that shifts the root of the tongue forward. We review our practical experience with this approach. First, upon admission, our local orthodontists perform an (3-D) intraoral scan of the maxilla. Based on the scan data, the TPP is manufactured in a semi-digital workflow...
September 29, 2023: Children
#11
JOURNAL ARTICLE
Marcele Oliveira Dos Santos, Denise Manica, Paulo José Cauduro Marostica, Leonardo Palma Kuhl, Marcus Vinícius Collares, Cláudia Schweiger
The study aimed to evaluate the mid-term effect of MDO in children with Robin sequence (RS). In this case series, 13 patients with RS who underwent MDO were followed up for more than 5 years. Data were collected using clinical history and physical examination. Polysomnography was performed and endoscopic evaluations of the airway was performed if patients still presented obstructive signs of upper airways and/or dysphagia. The patients' clinical signs improved in the mid-term after versus before MDO (inspiratory noise, 92,3% vs 30,8%; apnea, 84,6% vs 7,7%; cyanosis, 76,9% vs 0%; desaturations, 69,2% vs 0%; and suprasternal/intercostal retractions, 61,5% vs 0%; p < 0...
August 10, 2023: Journal of Cranio-maxillo-facial Surgery
#12
JOURNAL ARTICLE
Jacob Bodilsen, Quintino Giorgio D'Alessandris, Hilary Humphreys, Mildred A Iro, Matthias Klein, Katharina Last, Inmaculada López Montesinos, Pasquale Pagliano, Oğuz Reşat Sipahi, Rafael San-Juan, Pierre Tattevin, Majda Thurnher, Rogelio de J Treviño-Rangel, Matthijs C Brouwer
SCOPE: These European Society of Clinical Microbiology and Infectious Diseases guidelines are intended for clinicians involved in diagnosis and treatment of brain abscess in children and adults. METHODS: Key questions were developed, and a systematic review was carried out of all studies published since 1 January 1996, using the search terms 'brain abscess' OR 'cerebral abscess' as Mesh terms or text in electronic databases of PubMed, Embase, and the Cochrane registry...
August 29, 2023: Clinical Microbiology and Infection
#13
JOURNAL ARTICLE
Shupei Jiang, Tao Han, Weimin Shen
OBJECTIVE: We aimed to measure the related indicators of the neonatal mandible in East China. This provides basic data for the study of the mandible position and morphology of normal newborns and can also provide data support for the diagnosis, evaluation, and treatment of the Pierre Robin sequence. METHODS: First, we collected the CT data of normal neonates at the Nanjing Children's Hospital Affiliated with Nanjing Medical University between January 2013 and January 2019...
2023: Frontiers in Pediatrics
#14
JOURNAL ARTICLE
Vassilis Sideropoulos, Jo Van Herwegen, Ben Meuleman, Michael Alessandri, Faisal M Alnemary, Jamal Amani Rad, Pamela A Banta Lavenex, Nikita Bolshakov, Sven Bölte, Paulina Buffle, Ru Y Cai, Ruth Campos, Adela Chirita-Emandi, Andreia P Costa, Floriana Costanzo, Vincent Des Portes, Daniel Dukes, Laurence Faivre, Nawelle Famelart, Marisa H Fisher, Liudmilla Gamaiunova, Aikaterini Giannadou, Rashmi Gupta, Antonio Y Hardan, Françoise Houdayer-Robert, Lenka Hrncirova, Roberto Tadeu Iaochite, Katarina Jariabkova, Bonita P Klein-Tasman, Pierre Lavenex, Supriya Malik, Francesca Mari, Pastora Martinez-Castilla, Deny Menghini, Heather J Nuske, Olympia Palikara, Anouk Papon, Robin S Pegg, Hamidreza Pouretemad, Luise Poustka, Ingolf Prosetzky, Alessandra Renieri, Sinead M Rhodes, Deborah M Riby, Massimiliano Rossi, Saeid Sadeghi, Xueyen Su, Claire Tai, Michel Tran, Fionnuala Tynan, Mirko Uljarević, Amy V Van Hecke, Guida Veiga, Alain Verloes, Stefano Vicari, Sonja G Werneck-Rohrer, Eric Zander, Andrea C Samson
BACKGROUND: The COVID-19 pandemic had a major impact on the mental health and well-being of children with neurodevelopmental conditions (NDCs) and of their families worldwide. However, there is insufficient evidence to understand how different factors (e.g., individual, family, country, children) have impacted on anxiety levels of families and their children with NDCs developed over time. METHODS: We used data from a global survey assessing the experience of 8043 families and their children with NDCs (mean of age (m) = 13...
July 28, 2023: Journal of Global Health
#15
JOURNAL ARTICLE
Suliman Alsaeed, Nelly Huynh, David Wensley, Kevin Lee, Mona M Hamoda, Evan Ayers, Kate Sutherland, Fernanda R Almeida
Introduction: Obstructive sleep apnea (OSA) is a disorder in which ventilation becomes disrupted due to a complete or partial upper airway obstruction Altered craniofacial morphology is one of the most important anatomical factors associated with obstructive sleep apnea (OSA). Studies have assessed craniofacial features in the non-syndromic pediatric population. The aim of this study was to analyze the orthodontic and facial characteristic of craniofacial syndromic children referred for polysomnography (PSG) and to assess the correlation with the apnea-hypopnea index (AHI)...
June 29, 2023: Diagnostics
#16
REVIEW
Marta Piotto, Antonella Gambadauro, Alessia Rocchi, Mara Lelii, Barbara Madini, Lucia Cerrato, Federica Chironi, Youssra Belhaj, Maria Francesca Patria
Sleep is a fundamental biological necessity, the lack of which has severe repercussions on the mental and physical well-being in individuals of all ages. The phrase "sleep-disordered breathing (SDB)" indicates a wide array of conditions characterized by snoring and/or respiratory distress due to increased upper airway resistance and pharyngeal collapsibility; these range from primary snoring to obstructive sleep apnea (OSA) and occur in all age groups. In the general pediatric population, the prevalence of OSA varies between 2% and 5%, but in some particular clinical conditions, it can be much higher...
May 27, 2023: Children
#17
Mohammad Ashraful Amin, Taraque Ahamed Shawon, Naushad Khan Shaon, Sabrina Nahin, Jannatul Fardous, Mohammad Delwer Hossain Hawlader
KEY CLINICAL MESSAGE: Children with Pierre Robin syndrome (PRS) often have trouble breathing and eating as soon as they are born. If conservative therapy fails to alleviate airway obstruction, surgical surgery may be considered. Patients with PRS require multidisciplinary approaches for treatment. ABSTRACT: Pierre Robin syndrome is a common craniofacial abnormality that causes glossoptosis and blockage of the upper airway. This renders it difficult to feed, which leads to severe malnutrition...
May 2023: Clinical Case Reports
#18
JOURNAL ARTICLE
Michele Santoro, Ester Garne, Alessio Coi, Joachim Tan, Maria Loane, Elisa Ballardini, Clara Cavero-Carbonell, Hermien Ek de Walle, Miriam Gatt, Mika Gissler, Sue Jordan, Kari Klungsøyr, Natalie Lelong, Stine Kjaer Urhoj, Diana G Wellesley, Joan K Morris
OBJECTIVE: To evaluate survival, hospitalisations and surgical procedures for children born with Pierre Robin sequence (PRS) across Europe. DESIGN: Multicentre population-based cohort study. SETTING: Data on 463 live births with PRS from a population of 4 984 793 from 12 EUROCAT congenital anomaly registries. METHODS: Data on children with PRS born 1995-2014 were linked electronically to data on mortality, hospitalisations and surgical procedures up to 10 years of age...
July 2023: Archives of Disease in Childhood
#19
JOURNAL ARTICLE
Mohammed Junaid, Linda Slack-Smith, Kingsley Wong, Timothy Hewitt, Emma Glasson, Jenny Bourke, Gareth Baynam, Hanny Calache, Helen Leonard
OBJECTIVE: To describe trends, age-specific patterns, and factors influencing hospitalizations for five rare craniofacial anomalies (CFA). METHODS: Data on livebirths (1983-2010; n=721,019) including rare CFA (craniofacial microsomia, mandibulofacial dysostosis, Pierre Robin sequence, Van der Woude syndrome, and fronto-nasal dysplasia), episodes of death, and demographic and perinatal factors were identified from the Western Australian (WA) Register of Developmental Anomalies, Death Registrations and Midwives Notification System...
April 6, 2023: Journal of Pediatrics
#20
JOURNAL ARTICLE
Caroline Duchatsch Ribeiro de Souza, Leticia Faccim Padovani, Grace Cristina Ferreira-Donati, Márcia Cristina Almendros Fernandes Moraes, Camila de Castro Corrêa, Luciana Paula Maximino
BACKGROUND: The Pierre Robin Sequence presents heterogeneous symptoms, and each newborn can manifest from mild breathing and feeding difficulties to severe complications, as well as a predisposition to present changes in growth and neuropsychomotor development in the first years of life. OBJECTIVE: The aims were to evaluate and associate the neuropsychomotor development of zero- to 12-month-old children with Pierre Robin sequence (PRS) in the personal-social, fine motor-adaptive, language, and gross motor aspects...
January 21, 2023: Pediatric Neurology
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