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BMC Public Health Dec 2023This is the first national study to investigate the incidence of non-syndromic oro-facial clefts (NSOFC) and Pierre-Robin-Sequence in Saudi Arabia over the Covid-19...
OBJECTIVES
This is the first national study to investigate the incidence of non-syndromic oro-facial clefts (NSOFC) and Pierre-Robin-Sequence in Saudi Arabia over the Covid-19 pandemic period.
METHODS
All maternity hospitals (30-hospitals) in the major regions and cities of Saudi from November 2020-to-2021 were included in the study. Patients were evaluated for cleft phenotype using the LASHAL-classification system. The incidence of NSOFC in Saudi Arabia was calculated by comparing the number of NSOFCs cases born out of all live births during the study period at the included hospitals. Clinical examination was performed and information was gathered using a validated data collection form.
RESULTS
In one year, 140,380 live-infants were born at the selected hospitals. Of these, 177 were diagnosed with NSOFC giving an incidence of 1.26/1,000 live-births in Saudi Arabia and the highest incidence in Medina city (2.46/1000 live-births). The incidence of cleft lip-and-palate (0.67/1000 live-births) was higher than that of cleft-palate (0.37/1000 live-births) and cleft-lip (0.22/1000 live-births). Pierre-Robin Sequence incidence was (0.04/1000 live-births). There were 21(12.1) or 23(13.2%) of NSOFC's mothers exposed or vaccinated with Covid-19, respectively.
CONCLUSION
The national incidence of NSOFC in Saudi Arabia was 1.26/1000 live births with variation between phenotypes and regions in the country. In addition, to reporting Covid-19 infection prevalence and vaccine exposure among NSOFC's mothers, this study represents the first of its type to evaluate NSOFC prevalence in Saudi Arabia on a national level.
Topics: Humans; Female; Pregnancy; Cleft Lip; Cleft Palate; Saudi Arabia; Incidence; Pandemics; COVID-19; Prevalence
PubMed: 38114928
DOI: 10.1186/s12889-023-17270-7 -
The Cleft Palate-craniofacial Journal :... Nov 2023Prior research suggests that children with cleft palate (CP) are at increased risk of obstructive sleep-disordered breathing (SDB). However, few studies differentiate...
OBJECTIVE
Prior research suggests that children with cleft palate (CP) are at increased risk of obstructive sleep-disordered breathing (SDB). However, few studies differentiate the effects of CP repair on SDB based on syndrome status. The goal of this study was to evaluate differences in SDB after palatoplasty among children with nonsyndromic CP, syndromic CP, and isolated Robin sequence (RS).
DESIGN
Retrospective chart review.
SETTING
Tertiary academic children's hospital.
PATIENTS/PARTICIPANTS
A total of 145 children who underwent primary CP repair from 2014 to 2021.
MAIN OUTCOME MEASURE
Post-palatoplasty SDB is defined as parent-reported symptoms and/or evidence of obstructive sleep apnea (OSA).
RESULTS
Median age at palatoplasty was 11.1 [IQR 10.2-13.6] months. Most patients (61.4%) had nonsyndromic CP, 26.9% had a syndrome, and 11.7% had RS. Children with syndromic CP and RS had more post-palatoplasty SDB symptoms (56.4% vs 58.8% vs 30.3%, = .006) and higher rates of OSA (25.6% vs 29.4% vs 5.6%, = .001) compared to children with nonsyndromic CP after palatoplasty. Children with syndromic CP and RS had nearly 3 to 4 higher odds of post-palatoplasty SDB than children with nonsyndromic CP (adjusted odds ratio [aOR] 2.88, 95% CI 1.29-6.47, = .010; aOR 3.73, 95% CI 1.19-11.70, = .024).
CONCLUSION
This study showed that children with CP experience higher rates of SDB after palatoplasty than the general pediatric population. Within the cohort, children with syndromic CP and isolated RS were more likely to have obstructive sleep disorders than nonsyndromic children after palatoplasty. Clinicians should counsel caregivers accordingly and closely monitor these groups for SDB after palate repair.
Topics: Child; Humans; Infant; Cleft Palate; Retrospective Studies; Sleep Apnea Syndromes; Sleep Apnea, Obstructive; Pierre Robin Syndrome
PubMed: 35642260
DOI: 10.1177/10556656221105203 -
The Cleft Palate-craniofacial Journal :... Feb 2024To describe perioperative feeding performance in infants with Robin sequence (RS) who underwent mandibular distraction osteogenesis (MDO). A retrospective study of...
To describe perioperative feeding performance in infants with Robin sequence (RS) who underwent mandibular distraction osteogenesis (MDO). A retrospective study of infants that underwent MDO from May 2010 to December 2019. Tertiary pediatric hospital. A total of 40 patients underwent MDO and 20 met inclusion criteria. Of the included infants, 6 had an associated syndrome and 80% were male. Time to full oral feeds, rate of G-tube placement, and change in weight percentile following MDO. Average oral intake prior to MDO was 22.1% of individual goal feeds. Among the 15 (75%) children that did not require G-tube placement, mean time to full oral feeds after MDO was 11 days ± 5.7 days, with 80% of infants reaching full oral feeds within 2 weeks after extubation. The proportion of G-tube placement in patients with a syndrome was higher than in isolated RS (-0.6; 95% CI: -1.0, -0.2). Mean percentages of weight-for-age percentile decreased during the first 3 months after the procedure. This was followed by a mean upturn in weight starting after the third month after MDO with a recovery to preoperative mean weight-for-age percentiles by 6 months after surgery. This study suggests that infants with RS may achieve full oral feeds despite poor feeding performance before MDO. Infants with syndromic RS are more likely to require G-tube. These findings may be used to inform G-tube discussion and offer a timeline to work toward goal oral feeds for infants with RS after MDO.
Topics: Infant; Humans; Male; Child; Female; Retrospective Studies; Pierre Robin Syndrome; Osteogenesis, Distraction; Treatment Outcome; Mandible; Airway Obstruction
PubMed: 36128745
DOI: 10.1177/10556656221127542 -
The Kobe Journal of Medical Sciences Nov 2023The 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...
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. Demographic data, postoperative complications, and surgical results were all evaluated. The inclusion criteria were met by 73 patients. There were no difficulties associated with our distraction strategy. The majority of individuals with tracheostomies were successfully decannulated, and the remainder were able to avoid tracheostomies. Using MDO in PRS is an effective technique to avoid future airway issues. The success rate was lower and the complication rate higher for patients who had a tracheotomy before distraction and for those who underwent distraction at an age older than 2 months. The presence of laryngomalacia, gastric reflux disease, cardiac abnormalities, and GI anomalies did not increase the likelihood of MDO failure in PRS patients.
Topics: Humans; Infant; Child; Osteogenesis, Distraction; Pierre Robin Syndrome; Vietnam; Retrospective Studies; Treatment Outcome; Mandible
PubMed: 38018223
DOI: 10.24546/0100485260 -
The Cleft Palate-craniofacial Journal :... Feb 20241. To assess the skeletal class occlusion and lateral cephalometry in children with isolated cleft palates (non-Robin sequence) and 2. to identify associations between...
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. Thirty-two patients matched to inclusion criteria.
INTERVENTION
Furlow's Palatoplasty.
MAIN OUTCOME AND MEASURES
Cleft size at palatoplasty, cephalometric measurements and skeletal occlusal classes were analysed. ANOVA was used to test the association between cephalometric measurements and occlusal classes. Results are presented as means with a 95% confidence interval. The association between cleft measurements and cephalometric parameters was tested with Spearman Correlation (r).
RESULTS
The skeletal occlusal outcome at 7 years old for this series of patients was: Class I: 19%; Class II: 59% and Class III: 22%. No single cleft measurement at palatoplasty was predictive of the skeletal occlusal outcome. A larger hard palate cleft was associated with a shorter antero-posterior maxilla.
CONCLUSIONS
The skeletal occlusal class outcomes were similar to those found in a previous study in the literature. The occlusal prognosis appears to be better than in patients with Robin Sequence or with an associated cleft lip. No preoperative measurement was found to be associated with the occlusal outcome.
PubMed: 38389267
DOI: 10.1177/10556656241236078 -
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 -
Frontiers in Physiology 2023The main clinical manifestations of patients with Pierre Robin sequence (PRS) include micrognathia, the glossoptosis and dyspnoea. The difficulty of tracheal intubation...
The main clinical manifestations of patients with Pierre Robin sequence (PRS) include micrognathia, the glossoptosis and dyspnoea. The difficulty of tracheal intubation (TI) in such patients is increased. The purpose of the study was to evaluate the reliability and efficacy of the PRS simulator. A PRS simulator was developed by using 3-dimensional (3D) printing technology under computer-aided design. A total of 12 anaesthesiologists each trained 5 times for TI on the PRS Training Simulator-1 and recorded the simulation time. After the training, they were randomly divided into three groups with a total of 12 nontrained anaesthesiologists, and the simulation was completed on PRS Simulator-2, 3 and 4. The simulation time was recorded, and the performance was evaluated by three chief anaesthesiologists. Then, all 24 anaesthesiologists completed the questionnaire. A PRS simulator developed by 3D printing was used to simulate the important aspects of TI. The average number of years worked was 6.3 ± 3.1 years, and 66.7% were female. The time for the 12 anaesthesiologists to complete the training gradually decreased ( < 0.01). Compared with the trained anaesthesiologists, the simulation time of TI in the nontrained anaesthesiologists was much longer (all < 0.01). In addition, the simulation performance of the trained anaesthesiologists was relatively better (all < 0.01). The reliability and efficacy of the PRS simulator is herein preliminarily validated, and it has potential to become a teaching and training tool for anaesthesiologists.
PubMed: 38374871
DOI: 10.3389/fphys.2023.1292523 -
Arthritis Research & Therapy Jul 2023Anti-Jo-1 autoantibodies represent essential markers in the diagnosis of antisynthetase syndrome (ASS). In this retrospective study, we aimed to investigate whether...
BACKGROUND
Anti-Jo-1 autoantibodies represent essential markers in the diagnosis of antisynthetase syndrome (ASS). In this retrospective study, we aimed to investigate whether their concentrations and fluctuations could both respectively reflect the severity and evolution of ASS.
METHODS
Between 2015 and 2020, clinical and biological features of ASS patients with at least one positive measure of anti-Jo-1 autoantibody were collected. At each serum sampling, we assessed myositis activity by using the Myositis Intention to Treat Activities Index (MITAX) and compared anti-Jo-1 concentrations with ASS severity, anti-Jo-1 concentrations between patients with and without active disease, and changes in anti-Jo-1 concentrations with disease activity.
RESULTS
Forty-eight patients with ASS had at least one positive determination of anti-Jo-1 concentration. Among them, twenty-nine patients had at least two determinations of anti-Jo-1 autoantibody in their follow-up. We showed that these autoantibody concentrations were significantly correlated with MITAX (r = 0.4, p = 0.03) and creatine kinase concentration (r = 0.34, p = 0.002) and that they were significantly higher in patients with active disease than in those with inactive disease (91.7 IU/L vs 44.4 IU/L, p = 0.016). During follow-up, we found a significant correlation between fluctuations of anti-Jo-1 autoantibody concentrations and MITAX score (r = 0.7, p < 0.0001).
CONCLUSION
Our results suggest that anti-Jo-1 autoantibody concentration could be a predictive marker of the severity and evolution of ASS and show that their quantification could represent a precious tool for disease monitoring and for improving the therapeutic management of ASS patients.
Topics: Humans; Autoantibodies; Biomarkers; Myositis; Retrospective Studies
PubMed: 37481643
DOI: 10.1186/s13075-023-03116-5 -
Familial Cancer Oct 2023Pathogenic germline DICER1 variants are associated with pleuropulmonary blastoma, multinodular goiter, embryonal rhabdomyosarcoma and other tumour types, while mosaic...
Pathogenic germline DICER1 variants are associated with pleuropulmonary blastoma, multinodular goiter, embryonal rhabdomyosarcoma and other tumour types, while mosaic missense DICER1 variants in the RNase IIIb domain are linked to cause GLOW (global developmental delay, lung cysts, overgrowth, and Wilms' tumor) syndrome. Here, we report four families with germline DICER1 pathogenic variants in which one member in each family had a more complex phenotype, including skeletal findings, facial dysmorphism and developmental abnormalities. The developmental features occur with a variable expressivity and incomplete penetrance as also described for the neoplastic and dysplastic lesions associated with DICER1 variants. Whole exome sequencing (WES) was performed on all four cases and revealed no further pathogenic or likely pathogenic dominant, homozygous or compound heterozygous variants in three of them. Notably, a frameshift variant in ARID1B was detected in one patient explaining part of her phenotype. This series of patients shows that pathogenic DICER1 variants may be associated with a broader phenotypic spectrum than initially assumed, including predisposition to different tumours, skeletal findings, dysmorphism and developmental abnormalities, but genetic work up in syndromic patients should be comprehensive in order not to miss additional underlying /modifying causes.
Topics: Female; Humans; Germ-Line Mutation; Phenotype; Frameshift Mutation; Cysts; Ribonuclease III; Germ Cells; DEAD-box RNA Helicases
PubMed: 34331184
DOI: 10.1007/s10689-021-00271-z -
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