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The British Journal of Oral &... Apr 2024Treatment of children with Pierre Robin sequence (PRS) having a hypoplastic mandible and upper airway distress after birth may consist of external distraction devices....
Treatment of children with Pierre Robin sequence (PRS) having a hypoplastic mandible and upper airway distress after birth may consist of external distraction devices. Shape anomalies of the permanent molars and positional changes due to surgery have been documented. The aim of this study is to compare the long-term effects (>5 years) on the growth pattern of PRS-patients treated with an external mandibular distraction device with no-surgery cases and to investigate the dental development or damage. A retrospective cohort study was performed. PRS-patients with and without surgery were included. A digital cephalometric analysis was made to evaluate the growth pattern of the mandible between groups as well as with normal values. Nine of 19 patients underwent an external mandibular distraction. All children were extubated after 4-5 days with no signs of respiratory distress. Screw and device loosening presented in one patient. The articular and sellar angles were significantly larger and smaller, respectively, in the Surgery group. Mandibular distraction surgery might result in a 'growth boost' compared to the No-surgery group. No significant difference in dental development was found. Mandibular distraction osteogenesis is an effective way of relieving severe upper airway obstruction.
PubMed: 38902108
DOI: 10.1016/j.bjoms.2024.04.008 -
Orthodontics & Craniofacial Research May 2024This study aimed to establish a fully digital measurement protocol for standardizing the description of hard palate and cleft morphology in neonates with an isolated...
OBJECTIVES
This study aimed to establish a fully digital measurement protocol for standardizing the description of hard palate and cleft morphology in neonates with an isolated cleft palate (CPO) and Pierre Robin sequence (PRS).
MATERIALS AND METHODS
A total of 20 digitized plaster models of neonates with CPO and 20 digitized plaster models of neonates with PRS were retrospectively investigated. For the control group, the hard palate was segmented from 21 pre-existing 1.5 T MRI datasets of neonates and exported as an STL file. The digital models were marked with predefined reference points by three raters. Distance, angular, and area measurements were performed using Blender and MeshLab.
RESULTS
Neonates with CPO (20.20 ± 2.33 mm) and PRS (21.41 ± 1.81 mm) had a significantly shorter hard palate than the control group (23.44 ± 2.24 mm) (CPO vs. control: P < .001; PRS vs. control: P = .014). Notably, neonates with PRS (33.05 ± 1.95 mm) demonstrated a significantly wider intertuberosity distance than those with CPO (30.52 ± 2.28 mm) (P = .012). Furthermore, there were also significant differences measured between the cleft and control groups (25.22 ± 2.50 mm) (P < .001).
CONCLUSIONS
The data from this study demonstrate the feasibility of using MRI datasets to generate digital models of the hard palate. The presence of a cleft palate leads to pronounced adaptations of the total palatal surface area, dorsal width, and length of the hard palate. Mandibular retrognathia and altered tongue position in PRS, as opposed to CPO, might further impact palatal morphology and intertuberosity distance.
PubMed: 38783751
DOI: 10.1111/ocr.12818 -
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 -
Annals of Plastic Surgery Jun 2024Mandibular distraction osteogenesis (MDO) is rapidly becoming a standard of care for management of patients with severe Pierre Robin sequence. The tongue is brought...
OBJECTIVE
Mandibular distraction osteogenesis (MDO) is rapidly becoming a standard of care for management of patients with severe Pierre Robin sequence. The tongue is brought forward to alleviate airway obstruction. This study will look at an institutional, multisurgeon experience with MDO over 10 years.
DESIGN
A retrospective chart review was conducted.
SETTING
All patients who underwent MDO at the authors' institution from 2012 to 2022 were included. Three craniofacial surgeons performed all interventions.
PATIENTS
Demographics, preoperative and postoperative respiratory and feeding status, and distraction data were collected for 27 patients meeting inclusion criteria.
MAIN OUTCOME MEASURES
Primary outcomes were avoidance of a gastrostomy tube, avoidance of a tracheostomy, discharge from hospital on room air, and complications. A significance value of 0.05 was utilized.
RESULTS
The average age at MDO was 135 days, mean activation phase was 13.6 days, mean distraction length was 14.9 mm, and mean consolidation phase was 64.2 days. A longer activation phase was associated with discharge with a gastrostomy tube and a shorter activation phase was associated with discharge on full oral feeds. The ability to discharge on room air was associated with a shorter latency phase, shorter activation phase, and decreased distance of distraction.
CONCLUSIONS
The goal of MDO is to achieve full oral feeds with no respiratory support. Several different latency periods were used in this study, and a short latency period was demonstrated to be safe.
Topics: Humans; Pierre Robin Syndrome; Osteogenesis, Distraction; Retrospective Studies; Female; Male; Infant; Treatment Outcome; Mandible; Airway Obstruction
PubMed: 38725108
DOI: 10.1097/SAP.0000000000003949 -
The Cleft Palate-craniofacial Journal :... Mar 2024Compare the feeding management practices in infants with cleft palate with and without Pierre Robin sequence (PRS) and determine if specific feeding difficulties or...
OBJECTIVES
Compare the feeding management practices in infants with cleft palate with and without Pierre Robin sequence (PRS) and determine if specific feeding difficulties or interventions predict delayed palate repair.
DESIGN
Retrospective cross-sectional study.
SETTING
Seventeen cleft palate teams contributed data.
PATIENTS
414 infants were included in this study: 268 infants with cleft palate only and 146 infants with cleft palate and PRS.
PROCEDURES
Data were collected via parent interview and electronic health records.
MAIN OUTCOME MEASURES
Outcomes for the primary objective included categorical data for: history of poor growth, feeding therapy, milk fortification, use of enteral feeding, and feeding difficulties. The outcome for the secondary objective was age in months at primary palate repair.
RESULTS
Infants with PRS had a significantly higher prevalence of feeding difficulties (81% versus 61%) and poor growth (29% versus 15%) compared to infants with cleft palate only. Infants with PRS received all feeding interventions-including feeding therapy, milk fortification, and enteral feeding-at a significantly higher frequency. Infants with PRS underwent primary palate repair at a mean age of 13.55 months (SD = 3.29) which was significantly ( < .00001) later than infants with cleft palate only who underwent palate repair at a mean age of 12.05 months (SD = 2.36). Predictors of delayed palate repair included diagnosis of PRS as well as Hispanic ethnicity and a history of poor growth.
CONCLUSIONS
These findings can be used to establish clinical directives focused on providing early, multimodal feeding interventions to promote optimal growth and timely palate repair for infants with PRS.
PubMed: 38490219
DOI: 10.1177/10556656241239766 -
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 -
Clinical Case Reports Jul 2023Femoral hypoplasia-unusual facies syndrome is a rare condition of unknown etiology. The phenotype consists of significant femoral hypoplasia with characteristic facial...
KEY CLINICAL MESSAGE
Femoral hypoplasia-unusual facies syndrome is a rare condition of unknown etiology. The phenotype consists of significant femoral hypoplasia with characteristic facial malformations that often overlap with findings seen in patients with Pierre Robin sequence. Anesthesia providers must prepare for difficult intravenous access, difficult airway management, and uncertainties with regional anesthesia.
ABSTRACT
Femoral hypoplasia-unusual facies syndrome (FHUFS) or femoral facial syndrome is a rare and sporadic condition of unknown etiology. The phenotype consists of significant femoral hypoplasia with characteristic facial malformations that often overlap with findings seen in patients with Pierre Robin sequence. FHUFS is known to cause challenges with anesthesia, including difficulty with endotracheal intubation. Anesthesia providers must be aware of the possible coexistence of FHUFS and Pierre Robin sequence. They need to prepare for difficult intravenous access, difficult airway management, and uncertainties with regional anesthesia.
PubMed: 37415588
DOI: 10.1002/ccr3.7646 -
The Journal of Craniofacial SurgeryRobin sequence (RS) is a congenital clinical condition characterized by micrognathia, glossoptosis, and respiratory distress. Conservative methods could be responsible...
INTRODUCTION
Robin sequence (RS) is a congenital clinical condition characterized by micrognathia, glossoptosis, and respiratory distress. Conservative methods could be responsible for releasing feeding and respiratory impairment but little information about mandibular growth is known in long-term follow-up.
OBJECTIVE
Assessing the longitudinal behavior of the facial profile of individuals with isolated RS who underwent conservative micrognathia treatment using photographs during the whole craniofacial growth.
METHODS
Photographs of the right facial profile of 100 patients were used (50 individuals with isolated RS and 50 individuals without craniofacial anomaly). The individuals with RS were evaluated at 3 different times (T1: infant, T2: mixed dentition, T3: permanent dentition) by measuring the facial convexity angle (FCA; G.Sn.Pog´). A comparison between T3 and control group (C), individuals without craniofacial anomalies and in permanent dentition, was also performed, checking the FCA, nasolabial angle (Ls.Sn.Cm), mentolabial fold (Li.Si.Pog´), facial inferior third (Sn.Gn´.C) angles and the ratio between middle anterior facial height and lower anterior facial height.
RESULTS
The T3 group showed an increased angle of facial convexity and increased facial inferior third angle and middle anterior facial height/lower anterior facial height ratio compared with the control group. In the longitudinal evaluation of individuals with isolated RS, significant differences were identified between T1 and T2 groups and T1 and T3 groups showing that the increased facial convexity was higher in the infants and that did not change significantly between the phases of mixed and permanent dentition.
CONCLUSIONS
RS showed increased facial convexity in all phases evaluated, but their convexity decreased with growth. When compared with individuals without craniofacial anomalies, the individuals continue to exhibit retrognathism in the permanent dentition. The lack of a mandible projection has led to a considerable number of orthognathic surgeries for the correction of discrepancies.
Topics: Infant; Humans; Pierre Robin Syndrome; Micrognathism; Cephalometry; Follow-Up Studies; Mandible
PubMed: 37934950
DOI: 10.1097/SCS.0000000000009749 -
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 -
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