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https://www.readbyqxmd.com/read/27920635/clinical-and-molecular-characterisation-of-children-with-pierre-robin-sequence-and-additional-anomalies
#1
Jessie X Xu, Nicky Kilpatrick, Naomi L Baker, Anthony Penington, Peter G Farlie, Tiong Yang Tan
Pierre Robin Sequence (PRS) is usually classified into syndromic and nonsyndromic groups, with a further subclassification of the nonsyndromic group into isolated PRS and PRS with additional anomalies (PRS-Plus). The aim of this research is to provide an accurate phenotypic characterisation of nonsyndromic PRS, specifically the PRS-Plus subgroup. We sought to examine the frequency of sequence variants in previously defined conserved noncoding elements (CNEs) in the putative enhancer region upstream of SOX9, the regulation of which has been associated with PRS phenotypes...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27729133/does-canal-wall-down-mastoidectomy-benefit-syndromic-children-with-congenital-aural-stenosis
#2
Phayvanh P Sjogren, Richard K Gurgel, Albert H Park
OBJECTIVES: To determine whether a canal wall down mastoidectomy can provide long-term benefit for children with aural stenosis. METHODS: Retrospective case series of children with congenital aural stenosis having undergone a canal wall down mastoidectomy over a twelve-year period at a tertiary children's hospital. RESULTS: Data from thirteen children who underwent a total of twenty canal wall down mastoidectomies for aural stenosis were reviewed...
November 2016: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27723379/a-case-report-of-absent-epiglottis-in-children-with-nager-syndrome-its-impact-on-swallowing
#3
Sok Yan Tay, Woei Shyang Loh, Thiam Chye Lim
OBJECTIVE:   This clinical report is the first literature report exploring the issues of an absent epiglottis in children diagnosed with Nager syndrome. Nager syndrome has previously been described in children with Pierre Robin sequence and other syndromes. CONCLUSION:   The function of the epiglottis and its contribution to swallowing has always been debated. In this article and from our literature review, we felt that absent epiglottis possibly contributed to the aspiration risk and may partly explain the long-term feeding issues in these children despite corrective surgeries...
October 10, 2016: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/27619035/numerical-modeling-of-the-traction-process-in-the-treatment-for-pierre-robin-sequence
#4
Jakub J Słowiński, Aleksandra Czarnecka
INTRODUCTION: The goal of this numerical study was to identify the results of modulated growth simulation of the mandibular bone during traction in Pierre-Robin Sequence (PRS) treatment. METHODS: Numerical simulation was conducted in the Ansys 16.2 environment. Two FEM (finite elements method) models of a newborn's mandible (a spatial and a flat model) were developed. The procedure simulated a 20-week traction period. The adopted growth measure was mandibular length increase, defined as the distance between the Co-Pog anatomic points used in cephalometric analysis...
October 2016: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27619032/sleep-architecture-in-pierre-robin-sequence-the-effect-of-mandibular-distraction-osteogenesis
#5
J N Bangiyev, H Traboulsi, I Abdulhamid, A Rozzelle, P J Thottam
INTRODUCTION: Pierre-Robin Sequence (PRS), a triad of micro/retrognathia, glossoptosis, and upper airway obstruction, usually in conjunction with a cleft palate is frequently associated with significant morbidity. Mandibular distraction osteogenesis (MDO) is an effective treatment modality to address retroglossal upper airway obstruction by increasing the anterior-posterior diameter of the infant airway. Although MDO has been shown to improve the apnea-hypopnea index (AHI) in children with PRS, the consequences of MDO on other aspects of infant sleep, including hypercapnea, hypoxia, the REM to Non-REM ratio, as well as its effect on central and mixed apneas has not been investigated with an adequate sample size...
October 2016: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27548826/a-systematic-review-of-the-effectiveness-of-tongue-lip-adhesion-in-improving-airway-obstruction-in-children-with-pierre-robin-sequence
#6
Alex Viezel-Mathieu, Tyler Safran, Mirko S Gilardino
BACKGROUND: Tongue-lip adhesion (TLA) involves surgically tethering the tongue forward to the lower lip and is a technique to relieve airway obstruction caused by glossoptosis and retrognathia. The purpose of the present study was to evaluate the effectiveness of TLA for the treatment of airway compromise in patients with Pierre Robin sequence (PRS). METHODS: A comprehensive literature review was performed. Inclusion criteria consisted of patients having undergone isolated tongue lip adhesion and results that included airway outcome...
September 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27510883/-sleep-disordered-breathing-in-the-pierre-robin-syndrome-children
#7
J Lin, X H Cai, J Cai
No abstract text is available yet for this article.
August 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27316915/french-intensive-care-society-international-congress-r%C3%A3-animation-2016
#8
(no author information available yet)
No abstract text is available yet for this article.
June 2016: Annals of Intensive Care
https://www.readbyqxmd.com/read/27245527/spondyloepimetaphyseal-dysplasia-with-joint-laxity-beighton-type-a-unique-south-african-disorder
#9
E M Honey
Spondyloepimetaphyseal dysplasia with joint laxity (SEMD-JL) is an autosomal recessive skeletal dysplasia in which stunted stature, articular hypermobility and spinal malalignment are the major manifestations. Structural cardiac abnormalities are sometimes present. Approximately 30 affected children have been recognised previously in the Afrikaans-speaking community in South Africa, and in several, mutations in the B3GALT6 gene have been incriminated. In this article, case details of three additional affected children in two families are documented, and four additional families are mentioned...
June 2016: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/27240511/feeding-and-reflux-in-children-after-mandibular-distraction-osteogenesis-for-micrognathia-a-systematic-review
#10
REVIEW
Omar Breik, Kandiah Umapathysivam, David Tivey, Peter Anderson
UNLABELLED: Mandibular distraction osteogenesis (MDO) is becoming increasingly more commonly used as in neonates and infants with upper airway obstruction secondary to micrognathia. A significant number of these children are dependent on nasoenteric feeding or gastrostomies after birth for adequate nutrition and often suffer from gastro-esophageal reflux (GERD). OBJECTIVE: This analysis is a subset of a larger systematic review. The objective of this study is to determine the effects of MDO on feeding and GERD...
June 2016: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27230818/the-needs-of-siblings-of-children-with-a-life-threatening-illness-part-2-psychometric-validation-of-the-ibesfems
#11
Marianne Olivier d'avignon, Serge Dumont, Pierre Valois, S Robin Cohen
OBJECTIVE: Life-threatening illnesses in children have a significant impact on the lives of their brothers and sisters. Consequently, special attention must be paid to the specific needs of these siblings to help them cope with their situations. To address this issue, we developed an inventory of the needs of the adolescent siblings of severely ill children, the Inventaire des Besoins de la Fratrie d'Enfants Malades Sévèrement (IBesFEMS) [Needs Inventory for Siblings of Critically Ill Children]...
May 27, 2016: Palliative & Supportive Care
https://www.readbyqxmd.com/read/27153149/screening-for-adolescent-suicidality-in-primary-care-the-bullying-insomnia-tobacco-stress-test-a-population-based-pilot-study
#12
Philippe Binder, Anne-Laure Heintz, Coralie Servant, Marie-Thérèse Roux, Stéphane Robin, Ludovic Gicquel, Pierre Ingrand
AIM: Adolescents at risk for suicide often see their general practitioner solely for somatic or administrative reasons. A simple screening test given during a conversation would be of substantial help to send a signal and tackle the problem. We propose to update a screening test previously validated in France - the TSTS-Cafard - because of significant changes in the lives of adolescents with the growth of the cyber world since 2000. METHODS: The design and setting was a cross-sectional study involving 912 15-year-old adolescents in 90 French schools...
May 6, 2016: Early Intervention in Psychiatry
https://www.readbyqxmd.com/read/26920642/does-the-rate-of-distraction-or-type-of-distractor-affect-the-outcome-of-mandibular-distraction-in-children-with-micrognathia
#13
Omar Breik, David Tivey, Kandiah Umapathysivam, Peter Anderson
PURPOSE: A variety of surgical protocols are available in the literature for performing mandibular distraction. This study aims to determine the ideal rate of distraction and compare outcomes between internal and external distractors in children and infants with upper airway obstruction due to micrognathia. PATIENTS AND METHODS: A systematic review was performed. The databases searched included PubMed, Embase, Scopus, Web of Knowledge, and gray-literature sources...
July 2016: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/26910675/outcomes-of-cleft-palate-repair-in-patients-with-pierre-robin-sequence-a-matched-case-control-study
#14
Joseph T Hardwicke, Helen Richards, Louise Cafferky, Imogen Underwood, Britt ter Horst, Rona Slator
BACKGROUND: Pierre Robin sequence results from a cascade of events that occur during embryologic development and frequently presents with cleft palate. Some studies have shown speech outcomes to be worse in patients with Pierre Robin sequence after cleft palate repair. METHODS: A cohort of Pierre Robin sequence patients who all required an airway intervention and nasogastric feeding in the neonatal period were identified and speech outcomes assessed at 5 years of age...
March 2016: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/26867668/mandibular-distraction-osteogenesis-for-the-management-of-upper-airway-obstruction-in-children-with-micrognathia-a-systematic-review
#15
REVIEW
O Breik, D Tivey, K Umapathysivam, P Anderson
Mandibular distraction osteogenesis (MDO) is increasingly used for neonates and infants with upper airway obstruction secondary to micrognathia. This systematic review was conducted to determine the effectiveness of MDO in the treatment of airway obstruction. The databases searched included PubMed, Embase, Scopus, and grey literature sources. The inclusion criteria were applied to identify studies in children with clinical evidence of micrognathia/Pierre Robin sequence (PRS) who had failed conservative treatments, including both syndromic and non-syndromic patients...
June 2016: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/26707699/circulating-complexes-between-tumour-necrosis-factor-alpha-and-etanercept-predict-long-term-efficacy-of-etanercept-in-juvenile-idiopathic-arthritis
#16
Robin Kahn, Elisabet Berthold, Birgitta Gullstrand, Tobias Schmidt, Fredrik Kahn, Pierre Geborek, Tore Saxne, Anders A Bengtsson, Bengt Månsson
AIM: The relationship between tumour necrosis factor-alpha (TNF-α) and drug survival had not been studied in juvenile idiopathic arthritis (JIA), and there were no laboratory tests to predict the long-term efficacy of biological drugs for JIA. We studied whether serum levels of TNF-α, free or bound to etanercept, could predict long-term efficacy of etanercept in children with JIA. METHODS: We included 41 biologic-naïve patients with JIA who started treatment with etanercept at Skåne University Hospital between 1999 and 2010...
April 2016: Acta Paediatrica
https://www.readbyqxmd.com/read/26598935/gaps-in-evidence-management-of-pediatric-obstructive-sleep-apnea-without-tonsillar-hypertrophy
#17
COMPARATIVE STUDY
Alice Tang, Matthew Gropler, Angela L Duggins, Raouf S Amin, Sally R Shott, Barbara Chini, Stacey L Ishman
OBJECTIVES/HYPOTHESIS: Persistent obstructive sleep apnea (OSA) is demonstrated in 40% of children after adenotonsillectomy. We previously evaluated the basis of management decisions in children with OSA without tonsillar hypertrophy and found that 61% of decisions were non-evidence based. The aim of this study was to identify gaps in evidence for the management of children with OSA without tonsillar hypertrophy. STUDY DESIGN: Case series. METHODS: We recorded all real-time decisions made by pediatric subspecialists from eight disciplines that participated in an upper airway clinic and management conferences...
March 2016: Laryngoscope
https://www.readbyqxmd.com/read/26584892/-correlation-between-antenatal-ultrasound-and-postnatal-diagnosis-in-cleft-lip-or-palate-a-retrospective-study-of-44-cases
#18
V Dochez, P Corre, A-S Riteau, C Le Vaillant
OBJECTIVES: Anomalies of the maxillofacial development concern 1 for 700 births. About 30% of prenatal diagnoses of isolated primary cleft palate or associated with a cleft of secondary palate will be corrected in postnatal. This retrospective observational study was designed to compare the antenatal data and postnatal diagnosis regarding a series of clefts. MATERIALS AND METHODS: All children born between 1 December 2009 and 31 January 2014 in a prenatal diagnostic reference center and having a cleft palate were included...
December 2015: Gynécologie, Obstétrique & Fertilité
https://www.readbyqxmd.com/read/26540157/use-of-external-distractors-and-the-role-of-imaging-prior-to-mandibular-distraction-in-infants-with-isolated-pierre-robin-sequence-and-stickler-syndrome
#19
Katie M Mingo, James D Sidman, Daniel E Sampson, Timothy A Lander, Robert J Tibesar, Andrew R Scott
IMPORTANCE: Computed tomographic (CT) scans are often obtained before mandibular distraction osteogenesis in patients with isolated Pierre Robin sequence. There is concern regarding the risk of radiation exposure from CT in children. OBJECTIVE: To evaluate whether preoperative CT is necessary for adequate airway, feeding, and aesthetic outcomes following mandibular distraction with external distraction devices in infants with isolated Pierre Robin sequence. DESIGN, SETTING, AND PARTICIPANTS: In a retrospective review of medical records, infants who underwent mandibular distraction between January 1, 1998, and September 30, 2014, at 2 tertiary children's hospitals were identified using procedure codes...
March 2016: JAMA Facial Plastic Surgery
https://www.readbyqxmd.com/read/26454241/craniofacial-syndromes-and-sleep-related-breathing-disorders
#20
REVIEW
Hui-Leng Tan, Leila Kheirandish-Gozal, François Abel, David Gozal
Children with craniofacial syndromes are at risk of sleep disordered breathing, the most common being obstructive sleep apnea. Midface hypoplasia in children with craniosynostosis and glossoptosis in children with Pierre Robin syndrome are well recognized risk factors, but the etiology is often multifactorial and many children have multilevel airway obstruction. We examine the published evidence and explore the current management strategies in these complex patients. Some treatment modalities are similar to those used in otherwise healthy children such as adenotonsillectomy, positive pressure ventilation and in the refractory cases, tracheostomy...
June 2016: Sleep Medicine Reviews
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