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PloS One 2021Video laryngoscopy is an effective tool in the management of difficult pediatric airway. However, evidence to guide the choice of the most appropriate video laryngoscope... (Comparative Study)
Comparative Study
Comparison of Glidescope Core, C-MAC Miller and conventional Miller laryngoscope for difficult airway management by anesthetists with limited and extensive experience in a simulated Pierre Robin sequence: A randomized crossover manikin study.
BACKGROUND
Video laryngoscopy is an effective tool in the management of difficult pediatric airway. However, evidence to guide the choice of the most appropriate video laryngoscope (VL) for airway management in pediatric patients with Pierre Robin syndrome (PRS) is insufficient. Therefore, the aim of this study was to compare the efficacy of the Glidescope® Core™ with a hyperangulated blade, the C-MAC® with a nonangulated Miller blade (C-MAC® Miller) and a conventional Miller laryngoscope when used by anesthetists with limited and extensive experience in simulated Pierre Robin sequence.
METHODS
Forty-three anesthetists with limited experience and forty-three anesthetists with extensive experience participated in our randomized crossover manikin trial. Each performed endotracheal intubation with the Glidescope® Core™ with a hyperangulated blade, the C-MAC® with a Miller blade and the conventional Miller laryngoscope. "Time to intubate" was the primary endpoint. Secondary endpoints were "time to vocal cords", "time to ventilate", overall success rate, number of intubation attempts and optimization maneuvers, Cormack-Lehane score, severity of dental trauma and subjective impressions.
RESULTS
Both hyperangulated and nonangulated VLs provided superior intubation conditions. The Glidescope® Core™ enabled the best glottic view, caused the least dental trauma and significantly decreased the "time to vocal cords". However, the failure rate of intubation was 14% with the Glidescope® Core™, 4.7% with the Miller laryngoscope and only 2.3% with the C-MAC® Miller when used by anesthetists with extensive previous experience. In addition, the "time to intubate", the "time to ventilate" and the number of optimization maneuvers were significantly increased using the Glidescope® Core™. In the hands of anesthetists with limited previous experience, the failure rate was 11.6% with the Glidescope® Core™ and 7% with the Miller laryngoscope. Using the C-MAC® Miller, the overall success rate increased to 100%. No differences in the "time to intubate" or "time to ventilate" were observed.
CONCLUSIONS
The nonangulated C-MAC® Miller facilitated correct placement of the endotracheal tube and showed the highest overall success rate. Our results therefore suggest that the C-MAC® Miller could be beneficial and may contribute to increased safety in the airway management of infants with PRS when used by anesthetists with limited and extensive experience.
Topics: Adult; Anesthetists; Cross-Over Studies; Female; Glottis; Humans; Infant; Intubation, Intratracheal; Laryngoscopes; Laryngoscopy; Male; Manikins; Middle Aged; Pierre Robin Syndrome; Video Recording
PubMed: 33886650
DOI: 10.1371/journal.pone.0250369 -
The Journal of Craniofacial Surgery May 2021This cohort study aimed to assess how age at repair affects outcomes in nonsyndromic patients with and without Robin Sequence using a national database of commercial...
BACKGROUND
This cohort study aimed to assess how age at repair affects outcomes in nonsyndromic patients with and without Robin Sequence using a national database of commercial healthcare claims.
METHODS
Children under 4 years of age undergoing palatoplasty were identified in the IBM MarketScan Commercial Database based on ICD-9-CM and CPT procedure codes. They were divided into Robin and non-Robin cleft palate groups, and further divided by time of initial cleft palate repair: Robin Sequence into 2 groups: age ≤10 months or >10 months; non-Robin cleft palate into 3 groups: age ≤10 months, >10-14 months, or >14 months age. Time to cleft palate revision within each group was assessed using Cox proportional-hazard models.
RESULTS
A total of 261 patients with Robin Sequence and 3046 with non-Robin cleft palate were identified. In patients with Robin, later repair was associated with decreased risk of secondary procedures compared with early repair (Hazard Ratio (HR) 0.19, 95%CI 0.09-0.39, P < 0.001). In patients with non-Robin cleft palate, decreased risk of revision compared to early repair was associated both with repair at >10-14 months (adjusted HR 0.40, 95%CI 0.31-0.52, P < 0.001) and > 14 months (adjusted HR 0.71, 95%CI 0.57-0.88, P = 0.002). Adjusting for timing of repair, patients with non-Robin cleft palate were at significantly increased risk of secondary procedure if diagnosed with failure to thrive or anemia in the 30 days prior to palatoplasty.
CONCLUSIONS
In patients with and without Robin sequence, cleft palate repair at or before 10 months of age was associated with higher risk for secondary procedures.
Topics: Child; Child, Preschool; Cleft Palate; Cohort Studies; Humans; Infant; Pierre Robin Syndrome; Retrospective Studies; Treatment Outcome
PubMed: 33290333
DOI: 10.1097/SCS.0000000000007311 -
Plastic Surgery (Oakville, Ont.) Feb 2017Pierre Robin sequence (PRS) is a triad of micrognathia, glossoptosis, and respiratory distress. There is no standard clinical classification used in the management of...
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. Patients were identified using our cleft lip and palate program database. Inclusion criteria were 2 of the following 3 clinical features-glossoptosis, retrognathia, or airway obstruction. We collected demographic data, clinical information (coexisting airway morbidity, maxillary-mandibular discrepancy, type of intervention used, complications, and outcomes (feeding, length of stay, and airway status) during the first year of life.
RESULTS
Sixty-three patients met our inclusion criteria. Of these, 55 (87%) had cleft palate and 17 (27%) were syndromic. Forty-eight (76%) patients were managed by prone positioning. Of the 15 surgically managed patients, the initial procedure was floor of mouth release in 7, mandibular distraction osteogenesis (MDO) in 4, and tongue-lip adhesion in 4. Five patients with coexisting airway morbidity needed a second surgery; 2 had MDO and 3 tracheostomies (one patient was later decannulated). Seven (47%) of the surgically managed patients required a gastrostomy tube.
CONCLUSION
At present, there is no consensus on neonatal airway management in infants with PRS. From our review of 63 patients with PRS, we hereby propose a simple 4-point classification system and treatment algorithm, based on clinical features.
PubMed: 29026807
DOI: 10.1177/2292550317693814 -
Annals of Thoracic Medicine 2017Pierre Robin sequence (PRS) is characterized by the triad of micrognathia, glossoptosis, and upper airway obstruction. It is commonly associated with the secondary cleft...
INTRODUCTION
Pierre Robin sequence (PRS) is characterized by the triad of micrognathia, glossoptosis, and upper airway obstruction. It is commonly associated with the secondary cleft palate. Infants with PRS commonly have sleep-disordered breathing (SDB); including obstructive sleep apnea (OSA) as well as central sleep breathing abnormalities that are present from infancy.
AIM OF THE STUDY
Evaluate the prevalence and severity of SDB in infants with PRS using polysomnography (PSG).
SETTINGS AND DESIGN
We retrospectively reviewed the sleep laboratory database at The Hospital for Sick Children, Toronto, during the period of May 2007 to March 2016.
STATISTICAL ANALYSIS
Comparisons of PSG data were made between the OSA and non-OSA group using the Student's t-test for age and body mass index, Wilcoxon signed ranks test for the continuous PSG data and Chi-squared test for the categorical variables.
METHODS
Patients with PRS were identified and their initial PSG was selected for this study. The main indication for referral was ongoing concerns regarding OSA symptoms.
RESULTS
A total of 46 patients (28 females) were included with a mean age (±standard deviation) of 0.8 (±0.3) year. Twenty-two out of 46 (47%) had evidence of OSA of which 10 had mild, 3 had moderate, and 9 had severe OSA. The PRS infants with OSA were younger than the non-OSA group. Significant correlations were found between desaturation and arousal indices with obstructive apnea-hypopnea index.
CONCLUSION
This retrospective chart review confirms a high prevalence of OSA in this population. Prospective longitudinal studies are needed to evaluate the outcomes of OSA in PRS population.
PubMed: 28197218
DOI: 10.4103/1817-1737.197770 -
Seminars in Fetal & Neonatal Medicine Aug 2016In infants with craniofacial disorders, upper airway obstruction is one of the primary causes for morbidity and mortality in the neonatal period. Infants with... (Review)
Review
In infants with craniofacial disorders, upper airway obstruction is one of the primary causes for morbidity and mortality in the neonatal period. Infants with craniofacial disorders, including Pierre Robin sequence, are at high risk for obstructive sleep apnea syndrome. Because of the complexity of their care, these neonates are usually followed by a multidisciplinary team to ensure timely evaluation and optimal treatment. In addition to history and physical examination, clinical evaluation may include genetic testing, imaging, endoscopy, and polysomnography. There are various treatment options, both surgical and non-surgical, that may be used depending on clinical assessment, underlying condition, and severity of disease. Recent advances have led to better assessment and treatment of these patients, but many questions remain. This review outlines the available literature pertaining to the evaluation and management of upper airway obstruction in the neonate with craniofacial conditions, with a particular focus on Pierre Robin sequence.
Topics: Achondroplasia; Airway Obstruction; Cleft Lip; Cleft Palate; Craniosynostoses; Down Syndrome; Humans; Infant; Infant, Newborn; Pierre Robin Syndrome
PubMed: 26997148
DOI: 10.1016/j.siny.2016.03.001 -
American Journal of Human Genetics Jun 2021ANKRD17 is an ankyrin repeat-containing protein thought to play a role in cell cycle progression, whose ortholog in Drosophila functions in the Hippo pathway as a...
ANKRD17 is an ankyrin repeat-containing protein thought to play a role in cell cycle progression, whose ortholog in Drosophila functions in the Hippo pathway as a co-factor of Yorkie. Here, we delineate a neurodevelopmental disorder caused by de novo heterozygous ANKRD17 variants. The mutational spectrum of this cohort of 34 individuals from 32 families is highly suggestive of haploinsufficiency as the underlying mechanism of disease, with 21 truncating or essential splice site variants, 9 missense variants, 1 in-frame insertion-deletion, and 1 microdeletion (1.16 Mb). Consequently, our data indicate that loss of ANKRD17 is likely the main cause of phenotypes previously associated with large multi-gene chromosomal aberrations of the 4q13.3 region. Protein modeling suggests that most of the missense variants disrupt the stability of the ankyrin repeats through alteration of core structural residues. The major phenotypic characteristic of our cohort is a variable degree of developmental delay/intellectual disability, particularly affecting speech, while additional features include growth failure, feeding difficulties, non-specific MRI abnormalities, epilepsy and/or abnormal EEG, predisposition to recurrent infections (mostly bacterial), ophthalmological abnormalities, gait/balance disturbance, and joint hypermobility. Moreover, many individuals shared similar dysmorphic facial features. Analysis of single-cell RNA-seq data from the developing human telencephalon indicated ANKRD17 expression at multiple stages of neurogenesis, adding further evidence to the assertion that damaging ANKRD17 variants cause a neurodevelopmental disorder.
Topics: Adolescent; Adult; Child; Child, Preschool; Craniofacial Abnormalities; Female; Haploinsufficiency; Heterozygote; Humans; Infant; Intellectual Disability; Language Development Disorders; Loss of Function Mutation; Male; Pedigree; Phenotype; RNA-Binding Proteins; Signal Transduction; Syndrome; Young Adult
PubMed: 33909992
DOI: 10.1016/j.ajhg.2021.04.007 -
Brazilian Journal of Otorhinolaryngology 2009The Pierre Robin sequence is characterized by micrognathia, glossoptosis and upper airway obstruction. Symptom severity varies, and this makes the treatment of these...
UNLABELLED
The Pierre Robin sequence is characterized by micrognathia, glossoptosis and upper airway obstruction. Symptom severity varies, and this makes the treatment of these patients a true challenge.
AIM
to identify the presence of sleep hypopnea-apnea in patients with Pierre-Robin sequence.
MATERIALS AND METHODS
retrospective study in which we assessed 14 children with Pierre-Robin sequence, eight girls. The children were submitted to swallowing video-endoscopy study and polysomnography.
RESULTS
eight patients were included in this study. Six had normal polysomnography and only one patient had mild central hypopnea-apnea. Swallowing video-endoscopy was normal in five patients and moderate dysphagia was detected in three patients, who were then submitted to gastrostomy. Mandible distraction was carried out in four patients who were also submitted to tracheostomy during the same procedure.
CONCLUSIONS
dysphagia was more prevalent than sleep apnea. Swallowing video-endoscopy proved to be a dynamic test and one able to detect feeding disorders in patients with Pierre Robin sequence.
Topics: Child; Deglutition Disorders; Endoscopy; Female; Humans; Infant, Newborn; Male; Pierre Robin Syndrome; Polysomnography; Retrospective Studies; Severity of Illness Index; Sleep Apnea, Obstructive
PubMed: 20209287
DOI: 10.1016/s1808-8694(15)30549-8 -
National Journal of Maxillofacial... 2020The triad of retrognathia, glossoptosis, and airway obstruction characterizes the Robin sequence along with the detrimental effects of mandibular hypoplasia on feeding,...
The triad of retrognathia, glossoptosis, and airway obstruction characterizes the Robin sequence along with the detrimental effects of mandibular hypoplasia on feeding, swallowing, and growth, which are very well described. Most of the babies are managed successfully on nonsurgical measures, but selected patients require surgical intervention in the neonatal period for survival. Conventionally, tracheostomy was done, which still remains a first-line surgical procedure for some surgeons. However, presently, most of the craniofacial centers have switched over to mandibular distraction procedures at an early stage and only sometimes tongue-lip adhesion (TLA). The literature is unclear as to which surgical procedure for securing the airway is more effective for these patients, and hence, the choice of procedure depends on the resources and surgical expertise. This article tells the tale of a neonate who survived by just placing a simple U-stitch between the tongue and lip, retracting the tongue outside, which is the basic concept of all TLA procedures. It also reemphasizes the importance of TLA in Robin patients to improve the airway obstruction and helps buy the time in which the mandible and associated structures grow.
PubMed: 33041591
DOI: 10.4103/njms.NJMS_11_17 -
PloS One 2023Airway management can be challenging in neonates and infants. The Pierre Robin sequence (PRS) is a condition characterized by micrognathia, glossoptosis and airway...
An approach to difficult airway in infants: Comparison of GlideScope® Spectrum LoPro, GlideScope® Spectrum Miller and conventional Macintosh and Miller blades in a simulated Pierre Robin sequence performed by 90 anesthesiologists.
BACKGROUND
Airway management can be challenging in neonates and infants. The Pierre Robin sequence (PRS) is a condition characterized by micrognathia, glossoptosis and airway obstruction. The airway management of these patients poses great challenges for anesthesiologists and pediatricians alike. To date, there has been no direct comparison of the hyperangulated GlideScope® Spectrum LoPro (GLP), the straight GlideScope® Spectrum Miller (GSM), a conventional Macintosh (MC) and a conventional Miller blade (ML) in patients with PRS.
METHODS
For this purpose, 90 anesthesiologists (43 with limited experience, 47 with extensive experience) performed orotracheal intubation on an Air-Sim® Pierre Robin X manikin using GLP, GSM, MC and ML in randomized order. 'Time-to-vocal-cords', 'time-to-intubate', 'time-to-ventilate', the severity of oral-soft-tissue-trauma and the subjective evaluation of each device were recorded.
RESULTS
A significantly faster and better view of the vocal cords and lower oral-soft-tissue-trauma was achieved using the GLP (p<0.001). Though, there were no significant differences in the 'time-to-intubate' or 'time-to-ventilate'. The highest intubation success rate was found with GSM and the lowest with GLP (GSM 100%, ML 97.8%, MC 96.7%, GLP 93.3%). When using the videolaryngoscopes, there were no undetected esophageal intubations but in six cases prolonged attempts of intubation (>120s) with the GLP. In the sub-group with extensive experience, we found significantly shorter intubation times for the GSM and ML. The GLP was the tool of choice for most participants, while the conventional MC received the lowest rating.
CONCLUSIONS
Videolaryngoscopy leads to increased safety for the prevention of undetected esophageal intubation in the airway management in a PRS manikin. Hyperangulated blades may ensure a good and fast view of the vocal cords and low oral-soft-tissue-trauma but pose a challenge during the placement of the tube. Specific skills and handling seem to be necessary to ensure a safe tube placement with this sort of blades.
Topics: Infant, Newborn; Humans; Infant; Pierre Robin Syndrome; Anesthesiologists; Laryngoscopes; Intubation, Intratracheal; Airway Management; Manikins; Soft Tissue Injuries; Laryngoscopy
PubMed: 37535590
DOI: 10.1371/journal.pone.0288816 -
Journal of Medical Genetics Jun 2007The Pierre Robin sequence (PRS), consisting of cleft palate, micrognathia and glossoptosis, can be seen as part of the phenotype in other Mendelian syndromes--for...
BACKGROUND
The Pierre Robin sequence (PRS), consisting of cleft palate, micrognathia and glossoptosis, can be seen as part of the phenotype in other Mendelian syndromes--for instance, campomelic dysplasia (CD) which is caused by SOX9 mutations--but the aetiology of non-syndromic PRS has not yet been unravelled.
OBJECTIVE
To gain more insight into the aetiology of PRS by studying patients with PRS using genetic and cytogenetic methods.
METHODS
10 unrelated patients with PRS were investigated by chromosome analyses and bacterial artificial chromosome arrays. A balanced translocation was found in one patient, and the breakpoints were mapped with fluorescence in situ hybridisation and Southern blot analysis. All patients were screened for SOX9 and KCNJ2 mutations, and in five of the patients expression analysis of SOX9 and KCNJ2 was carried out by quantitative real-time PCR.
RESULTS
An abnormal balanced karyotype 46,XX, t(2;17)(q23.3;q24.3) was identified in one patient with PRS and the 17q breakpoint was mapped to 1.13 Mb upstream of the transcription factor SOX9 and 800 kb downstream of the gene KCNJ2. Furthermore, a significantly reduced SOX9 and KCNJ2 mRNA expression was observed in patients with PRS.
CONCLUSION
Our findings suggest that non-syndromic PRS may be caused by both SOX9 and KCNJ2 dysregulation.
Topics: Adolescent; Base Pairing; Child; Child, Preschool; Chromosome Breakage; Chromosomes, Human, Pair 17; Chromosomes, Human, Pair 2; Female; Gene Expression Regulation; High Mobility Group Proteins; Humans; In Situ Hybridization, Fluorescence; Lymphocytes; Male; Pierre Robin Syndrome; Potassium Channels, Inwardly Rectifying; RNA, Messenger; SOX9 Transcription Factor; Transcription Factors; Translocation, Genetic
PubMed: 17551083
DOI: 10.1136/jmg.2006.046177