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The Journal of Craniofacial SurgeryA European guideline on Robin Sequence was developed within the European Reference Network for rare and/or complex craniofacial anomalies and ear, nose, and throat...
A European guideline on Robin Sequence was developed within the European Reference Network for rare and/or complex craniofacial anomalies and ear, nose, and throat disorders. The guideline provides an overview of optimal care provisions for patients with Robin Sequence and recommendations for the improvement of care.
Topics: Humans; Pierre Robin Syndrome; Pharyngeal Diseases; Nose; Craniofacial Abnormalities
PubMed: 37811988
DOI: 10.1097/SCS.0000000000009701 -
Acta Paediatrica (Oslo, Norway : 1992) Dec 2023We aimed to investigate the developmental outcome of children with Robin sequence (RS) for whom continuous positive airway pressure was the main strategy to release...
AIM
We aimed to investigate the developmental outcome of children with Robin sequence (RS) for whom continuous positive airway pressure was the main strategy to release upper airway obstruction.
METHODS
We included children with isolated RS or RS associated with Stickler syndrome who were aged 15 months to 6 years. We used the French version of the Child Development Inventory and calculated the developmental quotient (DQ) for eight different domains and the global DQ (DQ-global). We searched for determinants of risk of delay.
RESULTS
Of the 87 children, for 71%, the developmental evolution was within the norm (DQ-global ≥86 or ≥-1 SD), 29% were at high risk of delay (DQ-global <86 or <-1 SD), and only 3% were at very high risk of delay (DQ-global <70 or <-2 SD). The DQs for expressive language and language comprehension were lower in our study population than the general population, but an improvement was noticed with the children's growth.
CONCLUSION
Risk of a developmental delay was not greater for children with the most severe respiratory phenotype than the others. Children whose mothers had low education levels were more at risk than the others.
Topics: Female; Humans; Child; Infant; Pierre Robin Syndrome; Paris; Child Development; Hearing Loss, Sensorineural; Mothers
PubMed: 37786287
DOI: 10.1111/apa.16979 -
Frontiers in Pediatrics 2023We 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...
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. The data included the maxilla and mandible, and neonates had no craniomaxillofacial-related malformation. We exported the data in DICOM format. In the second step, we imported the data into MIMICS 21.0 to reconstruct the data into a 3D model, and then we used the model to measure the different measurement items. Specific measurement items were as follows: ① Measurement of the angle α: We imported the CT data of the neonate into the software and reconstructed a 3D model. We observed the 3D model to find the left and right gonions (LGo and RGo) and the Menton (Me) and used the angle measurement tool of the software to appoint Me as the apex, and we connected the points LGo, Me, and RGo as angle α. ② Measurement of the distance between the left and right gonions: The distance measurement tool of the software was used to measure the distance between the bilateral gonions as a. ③ Measurement of the distance from the Me to the line between LGo and RGo: The LGo and RGo were connected as a line on the 3D model, then the distance between Me and the line was measured as b. ④ Measurement of the distance between the upper and lower jaw: The median sagittal view was found and the distance c between the foremost point of the upper jaw and the foremost point of the lower jaw was measured. We imported the measurement results into the SPSS software for statistical analysis.
RESULTS
Specific measurement results: ① Angle α: 86.34 ± 8.58°. ② Distance a: 63.63 ± 6.83 mm. ③ Distance b: 31.99 ± 3.70 mm. ④ Distance c: 2.28 ± 1.04 mm. Among all the above indicators, there was no statistical difference between gender.
CONCLUSIONS
In this study, 132 neonates were initially screened, of which 117 met the inclusion criteria and were finally included. There were 69 male and 48 female neonates. The indicators α, a, b, and c showed no statistical differences between male and female neonates; therefore, we combined the results to obtain the normal reference value: angle α: 86.34 ± 8.58°; distance a: 63.63 ± 6.83 mm; distance b: 31.99 ± 3.70 mm; distance c: 2.28 ± 1.04 mm.
PubMed: 37645036
DOI: 10.3389/fped.2023.1172909 -
The Journal of Craniofacial SurgeryTracheostomy is the definitive treatment for airway management in severe cases of craniofacial-associated upper airway obstruction, like the Pierre-Robin sequence, but...
BACKGROUND
Tracheostomy is the definitive treatment for airway management in severe cases of craniofacial-associated upper airway obstruction, like the Pierre-Robin sequence, but is associated with significant morbidity. The purpose of this study was to examine tracheostomy-associated morbidities and mortalities in craniofacial patients to identify opportunities to improve clinical care and patient prognosis.
METHODS
The study was a retrospective review of pediatric craniofacial patients who were tracheostomized between 2016 and 2022. Data regarding their demographics, craniofacial diagnoses, endoscopic airway anomalies, intubation grade of view classification, tracheostomy-related complications, and causes of mortality were analyzed.
RESULTS
Sixteen of the 17 tracheostomized pediatric patients had the Pierre-Robin sequence, with 5 of those patients having an additional syndromic craniofacial diagnosis. Additional airway anomalies were found in 82.4% of the patients. The mean length of hospital stay after tracheostomy was 4.08 months. Infection was the most common complication, observed in 94.1% of patients, followed by stomal granulation in 76.5% of patients. Two mortalities were observed: one following the compassionate removal of ventilator support and the other following the accidental dislodgment of the tracheostomy tube.
CONCLUSIONS
Tracheostomy-related complications were observed in all craniofacial patients in this group. Compared with the general pediatric population, tracheostomized craniofacial patients may endure longer hospital stays and greater stomal granulation rates. Mandibular distraction osteogenesis may allow for tracheostomy avoidance in these patients, and future research should focus on comparing the long-term complication rates and outcomes between tracheostomy mandibular distraction osteogenesis in this challenging patient population.
Topics: Humans; Child; Infant; Treatment Outcome; Tracheostomy; Pierre Robin Syndrome; Airway Obstruction; Retrospective Studies; Morbidity; Osteogenesis, Distraction; Mandible; Postoperative Complications
PubMed: 37639682
DOI: 10.1097/SCS.0000000000009627 -
The Journal of Craniofacial SurgeryWhile the literature is replete of clinical studies reporting on the Robin sequence (RS), population-based analyses are scarce with significant variability within the...
INTRODUCTION
While the literature is replete of clinical studies reporting on the Robin sequence (RS), population-based analyses are scarce with significant variability within the literature in terms of reported incidence, demographic parameters, and outcomes. The authors have conducted a 20-year population-based analysis to guide clinical practice.
METHODS
A birth cohort was created from the available datasets in the Healthcare Cost and Utilization Project-Kids' Inpatient Database (HCUP-KID; 2000-2019). Robin sequence patients were identified and further stratified by syndromic status. Incidence, demographic parameters, and outcomes including mortality and tracheostomy rates were computed. A subset analysis comparing the isolated and syndromic cohorts was conducted. Data was analyzed through a χ 2 or t test.
RESULTS
The incidence of RS was 5.15:10,000 (95% CI: 4.99-5.31) from a birth cohort of 7.5 million. Overall, 63.3% of the cohort was isolated RS and 36.7% had syndromic RS. Robin sequence patients had a significantly higher rate of cardiac (25.9%) and neurological (8.6%) anomalies compared with the general birth cohort and were most commonly managed in urban teaching hospitals ( P <0.0001). The pooled mortality and tracheostomy rates were 6.6% and 3.6%, respectively. Syndromic status was associated with a longer length of hospital stay (27.8 versus 13.6 d), tracheostomy rate (6.2% versus 2.1%), and mortality (14.1% versus 2.2%) compared with isolated RS ( P <0.0001).
CONCLUSIONS
The true incidence of RS is likely higher than previously reported estimates. Isolated RS patients have a low associated mortality and tracheostomy rate and are typically managed in urban teaching hospitals. Syndromic status confers a higher mortality rate, tracheostomy rate, and length of stay compared with nonsyndromic counterparts.
Topics: Humans; United States; Retrospective Studies; Pierre Robin Syndrome; Incidence; Length of Stay; Inpatients
PubMed: 37622565
DOI: 10.1097/SCS.0000000000009649 -
The Journal of Craniofacial SurgeryLife-threatening airway obstruction is a major concern in patients with Pierre-Robin sequence. Tongue-lip adhesion (TLA) has been used to manage airway obstruction. The...
Life-threatening airway obstruction is a major concern in patients with Pierre-Robin sequence. Tongue-lip adhesion (TLA) has been used to manage airway obstruction. The authors present the case of a female neonate with Pierre-Robin sequence who presented with airway obstruction and a cleft palate. She underwent a TLA procedure with modified tongue base suspension (TBS). Endoscopy was used to check and control the traction of the tongue base to enable unobstructed self-ventilation. Positive outcomes including improved O2 saturation and weight gain were noted. The effectiveness of TLA was enhanced by using TBS with real-time endoscopy to evaluate the oropharyngeal airway space required to alleviate airway obstruction. The use of endoscopy enabled us to check and determine how much the tongue base should be tracted by manipulating the tongue anteriorly and posteriorly. The authors report transoral endoscopy-assisted TLA and modified TBS.
Topics: Infant, Newborn; Humans; Female; Pierre Robin Syndrome; Airway Obstruction; Larynx; Tongue; Endoscopy; Treatment Outcome
PubMed: 37603896
DOI: 10.1097/SCS.0000000000009672 -
Journal of Clinical Medicine Jul 2023Clomiphene citrate (CC) is one of the first-line treatments for ovulation induction in women with anovulatory polycystic ovary syndrome (PCOS). However, nearly 1 out of...
RESEARCH QUESTION
Clomiphene citrate (CC) is one of the first-line treatments for ovulation induction in women with anovulatory polycystic ovary syndrome (PCOS). However, nearly 1 out of 2 women is resistant to 50 mg/day of CC. The objective of this study is to investigate the clinical, biological, and/or ultrasound factors that may predict the resistance to 50 mg/day of CC in the first cycle of treatment in women with anovulatory PCOS. This would make it possible to identify PCOS patients to whom the dose of 100 mg/day would be offered as of the first cycle.
DESIGN
A retrospective and monocentric study was conducted on 283 women with anovulatory PCOS who required the use of ovulation induction with CC (903 cycles).
RESULTS
During the first cycle of treatment, 104 patients (36.8%) were resistant to 50 mg/day of CC. Univariate regression analysis showed that patients who resisted 50 mg/day of CC had significantly higher BMI, waist circumference, serum levels of AMH, total testosterone, Δ4-androstenedione, 17-OHP, and insulin ( < 0.05), compared to patients ovulating with this dose. Serum levels of SHBG were significantly lower in patients resistant to 50 mg/day ( < 0.05). After multivariate analysis, only AMH and SHBG remained statistically significant ( = 0.01 and = 0.001, respectively). However, areas under the ROC curves were weak (0.59 and 0.68, respectively).
CONCLUSION
AMH and SHBG are the only two parameters significantly associated with the risk of resistance to 50 mg/day of CC. However, no satisfactory thresholds have been established to predict resistance to 50 mg CC.
PubMed: 37568345
DOI: 10.3390/jcm12154943