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Annals of Plastic Surgery Jun 2024Pierre Robin sequence (PRS), characterized by micrognathia, glossoptosis, cleft palate, and obstructed airways, is one of the craniofacial conditions challenging various...
BACKGROUND
Pierre Robin sequence (PRS), characterized by micrognathia, glossoptosis, cleft palate, and obstructed airways, is one of the craniofacial conditions challenging various approaches to managing compromised airways, ranging from conservative measures to invasive airway surgery. This study was conducted to identify predictive risk factors for tracheostomy in the PRS.
METHODS
A retrospective chart review was conducted at a tertiary referral hospital in Thailand. Children diagnosed with PRS from January 2010 to December 2021 were enrolled. Univariate and multivariate analysis methods were used to identify the risk factors.
RESULTS
Sixty-five patients with PRS were identified in electronic medical records, but 6 were excluded. Thirteen of the remaining 59 patients underwent tracheostomy. There were no significant differences in sex, preterm gestational age, cleft palate, associated syndromes, chromosome abnormalities, or cardiac or neurological involvement between patients who received tracheostomy and those who did not. However, patients with oropharyngeal dysfunction who received tracheostomy tended to use a nasogastric tube or percutaneous gastrostomy 92.3% of the time ( P = 0.043). In addition, patients with abnormal airways from endoscopy were more likely to undergo tracheostomy (odds ratio, 2.17; 95% confidence interval [CI], 1.20-3.90). Interestingly, patients with a sum of Apgar scores at 1 and 5 minutes <15 were more likely to undergo tracheostomy (adjusted odds ratio, 9.91; 95% CI, 1.32-74.52). Furthermore, patients with at least 3 identified comorbidities were more likely to undergo tracheostomy (adjusted odds ratio, 11.34; 95% CI, 1.16-111.15).
CONCLUSIONS
The need for tracheostomy depends on comorbidities, Apgar scores, and abnormal airway anatomy. Feeding methods can become more complex with tracheostomy. Prognostic risk factors can help guide treatment and counseling for health care workers and caregivers.
Topics: Humans; Pierre Robin Syndrome; Tracheostomy; Male; Thailand; Retrospective Studies; Female; Tertiary Care Centers; Prognosis; Infant, Newborn; Infant; Risk Factors; Risk Assessment
PubMed: 38718326
DOI: 10.1097/SAP.0000000000003885 -
International Journal of Pediatric... May 2024Investigate an association between upper airway obstruction (UAO) management in Robin Sequence (RS) and need for bilateral myringotomy and tubes (BMT).
OBJECTIVE
Investigate an association between upper airway obstruction (UAO) management in Robin Sequence (RS) and need for bilateral myringotomy and tubes (BMT).
METHODS
Retrospective chart review of RS patients treated at a tertiary free-standing pediatric hospital from 1995 to 2020 was performed. Patients were grouped based on airway management: conservative, tracheostomy, tongue-lip adhesion (TLA), and mandibular distraction osteogenesis (MDO). Demographic data, cleft palate (CP) association, numbers of BMT and ear infections, and audiogram data including tympanograms were collected. One-way ANOVA and Chi-square/Fisher's exact tests were used to compare continuous and categorical data, respectively. Multivariable regression analysis was used to compare BMT rates between treatment groups.
RESULTS
One hundred forty-eight patients were included, 70.3 % of which had CP. Most patients (67.6 %) had at least one BMT; 29.1 % required two or more BMT. The rate of BMT was higher in patients with CP compared to those with intact palates (p = 0.003; 95 % CI 1.30-3.57) and those treated with tracheostomy (p = 0.043; 95 % CI 1.01, 2.27). Surgically managed patients were more likely to have hearing loss (67.5 % vs. 35.3 %, p = 0.017) and ear infections (42.1 % vs. 20.0 %, p = 0.014) pre-compared to post-procedure for airway management.
CONCLUSION
Most RS patients require at least 1 set of BMT. Those with CP and/or treated with tracheostomy had a higher likelihood of needing BMT. Rate of hearing loss and ear infection was higher in surgically managed RS patients. Patients with RS and overt CP require a statistically higher number of BMTs compared to those with either submucous cleft palate or intact palate.
Topics: Humans; Pierre Robin Syndrome; Male; Retrospective Studies; Airway Obstruction; Female; Middle Ear Ventilation; Infant; Tracheostomy; Child, Preschool; Airway Management; Osteogenesis, Distraction; Child
PubMed: 38714046
DOI: 10.1016/j.ijporl.2024.111964 -
The Annals of Otology, Rhinology, and... Jul 2024to investigate the ability of mandibular distraction osteogenesis (MDO) to avoid gastrostomy tube (G-tube). (Review)
Review
Pre-Operative Characteristics Helping to Avoid Gastrostomy Tube After Mandibular Distraction in Neonates With Pierre-Robin Sequence: A Institutional Case-Series and Review of the Literature.
OBJECTIVE
to investigate the ability of mandibular distraction osteogenesis (MDO) to avoid gastrostomy tube (G-tube).
DATA SOURCES
PubMed, EBSCOhost, Cochrane, and Embase.
REVIEW METHODS
We retrospectively reviewed the number of MDO cases performed at our institution for patients with Robin Sequence (RS) over the past 10 years. In our institutional review, patients were excluded if they had a G-tube already placed at the time of surgery. We also performed a systematic review of the literature. Articles were excluded if they did not detail feeding outcomes after MDO, or if MDO was performed on patients that did not have RS.
RESULTS
In our systematic review, 12 articles were included that comprised a total of 209 neonates with RS that underwent MDO. A total of 174 (83.3%) patients avoided a G-tube once MDO was performed. A total of 14 patients met the inclusion criteria at our institution. Of the 14 RS patients, 9 (64%) avoided having a G-tube placed and all (14/14) avoided tracheostomy. The average birth weight of patients avoiding a G-tube was 3.11 kg compared to 2.25 kg ( = .045) in the group requiring a G-tube. In the group avoiding a G-tube, the average weight at time of operation was 3.46 kg compared to 2.83 kg ( = .037) in the group requiring a G-tube.
CONCLUSION
MDO may be considered as a surgical option to prevent G-tube placement for neonates with non-syndromic RS who have difficulty with PO feeding but whose airway obstruction is not severe enough to require respiratory support. Based on our institutional experience, a minimum weight of 3.00 kg correlated with higher success rates of PO intake and avoiding a G-tube.
Topics: Humans; Pierre Robin Syndrome; Infant, Newborn; Gastrostomy; Osteogenesis, Distraction; Retrospective Studies; Mandible; Male; Female; Enteral Nutrition; Intubation, Gastrointestinal
PubMed: 38712740
DOI: 10.1177/00034894241249547 -
Frontiers in Cell and Developmental... 2024The pivotal role of FGF18 in the regulation of craniofacial and skeletal development has been well established. Previous studies have demonstrated that mice with...
The pivotal role of FGF18 in the regulation of craniofacial and skeletal development has been well established. Previous studies have demonstrated that mice with deficiency in exhibit severe craniofacial dysplasia. Recent clinical reports have revealed that the duplication of chromosome 5q32-35.3, which encompasses the gene, can lead to cranial bone dysplasia and congenital craniosynostosis, implicating the consequence of possible overdosed FGF18 signaling. This study aimed to test the effects of augmented FGF18 signaling by specifically overexpressing the gene in cranial neural crest cells using the mouse model. The results showed that overexpression of leads to craniofacial abnormalities in mice similar to the Pierre Robin sequence in humans, including abnormal tongue morphology, micrognathia, and cleft palate. Further examination revealed that elevated levels of activated the Akt and Erk signaling pathways, leading to an increase in the proliferation level of tongue tendon cells and alterations in the contraction pattern of the genioglossus muscle. Additionally, we observed that excessive FGF18 signaling contributed to the reduction in the length of Meckel's cartilage and disrupted the development of condylar cartilage, ultimately resulting in mandibular defects. These anomalies involve changes in several downstream signals, including Runx2, p21, Akt, Erk, p38, Wnt, and Ihh. This study highlights the crucial role of maintaining the balance of endogenous FGF18 signaling for proper craniofacial development and offers insights into potential formation mechanisms of the Pierre Robin sequence.
PubMed: 38694818
DOI: 10.3389/fcell.2024.1376814 -
Kansas Journal of Medicine 2024
PubMed: 38694175
DOI: 10.17161/kjm.vol17.21529 -
National Journal of Maxillofacial... 2024Pierre Robin sequence poses a great challenge for anesthesiologists during laryngoscopy and intubation, making oxygenation and ventilation difficult. The role of early...
Pierre Robin sequence poses a great challenge for anesthesiologists during laryngoscopy and intubation, making oxygenation and ventilation difficult. The role of early surgical intervention is recommended for the improvement of the airway and overall survival of the neonate. The situation becomes even more challenging, when the neonate may not be fit for such surgical interventions. The present case posed such a challenge to the team. To the authors' knowledge, the decision to use a face mask as an interim life-saving measure was considered for the first time. This provided a greater window of opportunity for further course of action, only to be later managed by distraction osteogenesis of the mandible. The unconventional use of orthopedic appliances for the management of threatened airways may provide the clinician with time, where further management may be carried out. The present article will explain such a procedure that was carried out as a life-saving measure.
PubMed: 38690248
DOI: 10.4103/njms.njms_99_23 -
BioRxiv : the Preprint Server For... Apr 2024Cleft lip and cleft palate are among the most common congenital anomalies and are the result of incomplete fusion of embryonic craniofacial processes or palatal shelves,...
Cleft lip and cleft palate are among the most common congenital anomalies and are the result of incomplete fusion of embryonic craniofacial processes or palatal shelves, respectively. We know that genetics play a large role in these anomalies but the list of known causal genes is far from complete. As part of a larger sequencing effort of patients with micrognathia and cleft palate we identified a candidate variant in () which is rare, changing a highly conserved amino acid, and predicted to be pathogenic by a number of metrics. The family history and population genetics would suggest this specific variant would be incompletely penetrant, but this gene has been convincingly implicated in craniofacial development. In order to test the hypothesis this might be a causal variant, we used genome editing to create the orthologous variant in a new mouse model. Surprisingly, mice did not exhibit craniofacial anomalies or have reduced survival suggesting this is, in fact, not a causal variant for cleft palate/ micrognathia. The discrepancy between in silico predictions and mouse phenotypes highlights the complexity of translating human genetic findings to mouse models. We expect these findings will aid in interpretation of future variants seen in from ongoing sequencing of patients with congenital craniofacial anomalies.
PubMed: 38645005
DOI: 10.1101/2024.04.08.588524 -
Long-term mandibular growth in patients with airway obstruction treated with mandibular distraction.Journal of Cranio-maxillo-facial... Jun 2024Congenital craniofacial malformations play an important role in upper airway obstruction. One of the main causes is mandibular hypoplasia which is present in the pierre...
Congenital craniofacial malformations play an important role in upper airway obstruction. One of the main causes is mandibular hypoplasia which is present in the pierre robin sequence. Mandibular distraction osteogenesis (MDO) is one of the most commonly used treatments for the resolution of upper airway obstruction in patients that do not respond to a conservative treatment. We performed a long term follow up of syndromic and non-syndromic patients with pierre robin sequence where the lateral xrays were studied before surgery (T1), after MDO (T2) and long-term follow-up (T3, at least 5 years). Possible complications of the surgery were also studied through panoramic x-rays and clinical controls. The results evidenced an increase of mandibular length comparing T1-T2 and a good stability during the long-term follow-up. The Sd patients presented smaller mandible dimensions. We had not found any complications during the follow-up. The scars outcomes are modest, but none of the patients requested a surgical correction. Mandibular distraction osteogenesis is a treatment to be considered in patients with upper airway obstruction that do not respond to conservative treatments. The results of the surgery are stable and the complications in experienced hands are low.
Topics: Humans; Osteogenesis, Distraction; Airway Obstruction; Mandible; Male; Female; Pierre Robin Syndrome; Child, Preschool; Child; Follow-Up Studies; Radiography, Panoramic; Infant; Adolescent; Treatment Outcome
PubMed: 38644093
DOI: 10.1016/j.jcms.2024.03.038 -
Critical Care (London, England) Apr 2024Patients infected with the severe acute respiratory syndrome coronavirus 2 (SARS-COV 2) and requiring mechanical ventilation suffer from a high incidence of ventilator...
Ventilator-associated pneumonia related to extended-spectrum beta-lactamase producing Enterobacterales during severe acute respiratory syndrome coronavirus 2 infection: risk factors and prognosis.
BACKGROUND
Patients infected with the severe acute respiratory syndrome coronavirus 2 (SARS-COV 2) and requiring mechanical ventilation suffer from a high incidence of ventilator associated pneumonia (VAP), mainly related to Enterobacterales. Data regarding extended-spectrum beta-lactamase producing Enterobacterales (ESBL-E) VAP are scarce. We aimed to investigate risk factors and outcomes of ESBL-E related VAP among critically ill coronavirus infectious disease-19 (COVID-19) patients who developed Enterobacterales related VAP.
PATIENTS AND METHODS
We performed an ancillary analysis of a multicenter prospective international cohort study (COVID-ICU) that included 4929 COVID-19 critically ill patients. For the present analysis, only patients with complete data regarding resistance status of the first episode of Enterobacterales related VAP (ESBL-E and/or carbapenem-resistant Enterobacterales, CRE) and outcome were included.
RESULTS
We included 591 patients with Enterobacterales related VAP. The main causative species were Enterobacter sp (n = 224), E. coli (n = 111) and K. pneumoniae (n = 104). One hundred and fifteen patients (19%), developed a first ESBL-E related VAP, mostly related to Enterobacter sp (n = 40), K. pneumoniae (n = 36), and E. coli (n = 31). Eight patients (1%) developed CRE related VAP. In a multivariable analysis, African origin (North Africa or Sub-Saharan Africa) (OR 1.7 [1.07-2.71], p = 0.02), time between intubation and VAP (OR 1.06 [1.02-1.09], p = 0.002), PaO/FiO ratio on the day of VAP (OR 0.997 [0.994-0.999], p = 0.04) and trimethoprim-sulfamethoxazole exposure (OR 3.77 [1.15-12.4], p = 0.03) were associated with ESBL-E related VAP. Weaning from mechanical ventilation and mortality did not significantly differ between ESBL-E and non ESBL-E VAP.
CONCLUSION
ESBL-related VAP in COVID-19 critically-ill patients was not infrequent. Several risk factors were identified, among which some are modifiable and deserve further investigation. There was no impact of resistance of the first Enterobacterales related episode of VAP on outcome.
Topics: Humans; Pneumonia, Ventilator-Associated; Escherichia coli; Cohort Studies; Prospective Studies; Critical Illness; beta-Lactamases; COVID-19; Intensive Care Units; Risk Factors; Klebsiella pneumoniae; Prognosis
PubMed: 38641851
DOI: 10.1186/s13054-024-04906-2 -
Clinical Oral Investigations Apr 2024There is a paucity of information about the possible risk factors that could identify patients with Robin sequence (RS) who are more prone to developing obstructive...
OBJECTIVES
There is a paucity of information about the possible risk factors that could identify patients with Robin sequence (RS) who are more prone to developing obstructive airway complications after palate closure. This study aimed to compare the respiratory complication rates in patients with RS and isolated cleft palate (ICP).
MATERIALS AND METHODS
In this retrospective study, we reviewed the medical records of 243 consecutive patients with RS and ICP who were treated at Amsterdam University Medical Centers over the past 25 years. We collected preoperative data on previous treatment, diagnostic findings, surgical technique, weight, and presence of congenital anomalies.
RESULTS
During cleft palate closure, patients with RS were older (11.9 versus 10.1 months; p = 0.001) and had a lower gestational age than those with ICP (37.7 versus 38.5 weeks; p = 0.002). Patients with RS had more respiratory complications (17 versus 5%; p = 0.005), were more often non-electively admitted to the pediatric intensive care unit (PICU) (13 versus 4.1%; p = 0.022), and had a longer hospital stay duration (3.7 versus 2.7 days; p = 0.011) than those with ICP. The identified risk factors for respiratory problems were a history of tongue-lip-adhesion (TLA) (p = 0.007) and a preoperative weight of < 8 kg (p = 0.015). Similar risk factors were identified for PICU admission (p = 0.015 and 0.004, respectively).
CONCLUSIONS
The possible risk factors for these outcomes were a low preoperative weight and history of TLA. Closer postoperative surveillance should be considered for patients with these risk factors.
CLINICAL RELEVANCE
Identifying risk factors for respiratory complications could provide clinicians better insight into their patients and allows them to provide optimal care for their patients.
Topics: Humans; Infant; Cleft Palate; Hospitalization; Pierre Robin Syndrome; Retrospective Studies; Tongue
PubMed: 38602599
DOI: 10.1007/s00784-024-05647-w