Cleft Palate-Craniofacial Journal最新文献

Background: Patients undergoing orthognathic surgery may have limited information surrounding surgery. This leads to less satisfaction with surgical outcomes, anxiety surrounding surgery and difficulty following perioperative instructions.

Solution: Providing a multi-disciplinary pre-operative educational experience for patients and caregivers improves surgical readiness and satisfaction.

What is new: Our team provides a "Jaw Surgery Workshop" which includes lectures from providers, previous patients, cookbooks and supplies. This allows for improved confidence and expectations surrounding jaw surgery.

Objective: Persistent buccopharyngeal membrane (PBM) is a rare anomaly associated with failure of ecto-endodermal resorption of the buccopharyngeal membrane on the 26^th day of intrauterine life. The current literature has insufficient information about PBM.

Design: Systematic Review.

Patients, participants: Online electronic databases such as PubMed-MEDLINE, Embase, and Scopus were searched using appropriate keywords from the earliest available data until 30^th August 2022, with no language restriction. Additional sources such as Google Scholar, major journals, gray literature, conference proceedings, and cross-referencing were also explored.

Main outcome measures: The present systematic review evaluated and analysed the data available on PBM along with its treatment options and clinicopathological findings, prevalence, and prognosis of the patient.

Results: Thirty-four publications with 37 reported cases were included in this systematic review. The majority of patients had dyspnea (n = 18), followed by dysphagia (n = 10). Approximately 16 patients suffering from PBM reported orofacial abnormalities. Seventeen patients reported complete PBM, and 18 patients had partial PBM. The treatment modality followed by most patients (n = 15) was surgical excision of the membrane, along with stent placement in four patients. Oropharyngeal reconstruction was performed in four cases. The overall prognosis and survival rate of this rare condition is good.

Conclusion: This review suggests that PBM is poorly understood, and the diagnosis of partial PBM is confirmed only when the patient complains of difficulty in breathing or eating. In-depth analysis and follow-up of the reported cases should be performed to diagnose the disease early so that clinicians can provide adequate treatment to the patients.

Objective: The addition of a uvular flap (PFU) was hypothesized to improve outcomes over standard pharyngeal flap (PF) for correction of velopharyngeal dysfunction. We report differences in outcomes of PF vs PFU at our institution.

Design: Retrospective cohort study.

Setting: Tertiary children's hospital.

Patients: Children who underwent PF or PFU with the three highest-volume surgeons at our institution in 2004-2017.

Outcome measures: We examined differences in complications between groups, frequency and type of revision surgery, and speech-related measures including nasometry, pressure-flow testing (PFT) and perceptual speech analysis (PSA).

Results: 160 patients were included, 41 PF and 119 PFU (including 18 with Hogan technique). Patients undergoing PFU were older (7.6 yr vs 6.0 yr; p  =  0.037) and more likely to have cleft palate (63/119 vs 14/41; p  =  0.047). There was no significant difference in complications. With PFU, a decrease in airspace contracting revision surgeries was noted, (4/119 vs 8/41; p  =  0.002) which drove a reduction in revision surgery of all types (7/119 vs 13/41; p  =  0.033). However, patients that did undergo revision surgery after PFU underwent more revision procedures (p  =  0.032). PSA scores were found to be lower (less hypernasal) after PFU (p  =  0.009) compared to PF. Objective speech measures had varying results, with nasometry demonstrating a significant difference between groups (p  =  0.001), while PFT (p  =  0.525) did not demonstrate a statistical difference.

Conclusion: The use of a uvular lining flap in pharyngeal flap surgery may be associated with improved long term surgical outcomes, including both improvements in subjective and objective testing and a lower rate of revision surgery, without increased complications.

This clinical report describes the implementation of magnetic resonance imaging (MRI) to evaluate a patient with long-standing velopharyngeal dysfunction. She was referred to the craniofacial clinic at age 10 with no prior surgical history and subsequently completed a Furlow palatoplasty due to a suspected submucous cleft palate. However, results were unfavorable with minimal improvement in speech or resonance. The clinical presentation, treatment, outcomes, and contributions from MRI for secondary surgical planning are described. Addition of MRI into the clinical workflow provided insights into the anatomy and physiology of the velopharyngeal mechanism that were unable to be obtained from nasendoscopy and speech evaluation alone.

Objective: Significant evidence links epigenetic processes governing the dynamics of DNA methylation and demethylation to an increased risk of syndromic and nonsyndromic cleft lip and/or cleft palate (CL/P). Previously, we characterized mesenchymal stem/stromal cells (MSCs) at different stages of osteogenic differentiation in the mouse incisor dental pulp. The main objective of this research was to characterize the transcriptional landscape of regulatory genes associated with DNA methylation and demethylation at a single-cell resolution.

Design: We used single-cell RNA sequencing (scRNA-seq) data to characterize transcriptome in individual subpopulations of MSCs in the mouse incisor dental pulp.

Settings: The biomedical research institution.

Patients/participants: This study did not include patients.

Interventions: This study collected and analyzed data on the single-cell RNA expssion in the mouse incisor dental pulp.

Main outcome measure(s): Molecular regulators of DNA methylation/demethylation exhibit differential transcriptional landscape in different subpopulations of osteogenic progenitor cells.

Results: scRNA-seq analysis revealed that genes encoding DNA methylation and demethylation enzymes (DNA methyltransferases and members of the ten-eleven translocation family of methylcytosine dioxygenases), methyl-DNA binding domain proteins, as well as transcription factors and chromatin remodeling proteins that cooperate with DNA methylation machinery are differentially expressed within distinct subpopulations of MSCs that undergo different stages of osteogenic differentiation.

Conclusions: These findings suggest some mechanistic insights into a potential link between epigenetic alterations and multifactorial causes of CL/P phenotypes.

This study aimed to analyze the efficacy of stem cell-based tissue engineering for the treatment of alveolar cleft (AC) and cleft palate (CP) defects in animal models.

Systematic review and meta-analysis.

Preclinical studies on alveolar cleft repair in maxillofacial practice.

Electronic search was performed using PubMed, Embase, and Cochrane databases. Pre-clinical studies, where stem cell-based tissue engineering was used in the reconstruction of AC and CP in animal models were included. Quality of the selected articles was evaluated using SYRCLE (SYstematic Review Centre for Laboratory animal Experimentation).

Review of alveolar cleft bone augmentation interventions in preclinical models.

Outcome parameters registered were new bone formation (NBF) and/or bone mineral density (BMD).

Thirteen large and twelve small animal studies on AC (21) and CP (4) reconstructions were included. Studies had an unclear-to-high risk of bias. Bone marrow mesenchymal stem cells were the most widely used cell source. Meta-analyses for AC indicated non-significant benefits in favor of: (1) scaffold + cells over scaffold-only (NBF P = .13); and (2) scaffold + cells over empty control (NBF P = .66; BMD P = .31). Interestingly, dog studies using regenerative grafts showed similar to superior bone formation compared to autografts. Meta analysis for the CP group was not possible.

AC and CP reconstructions are enhanced by addition of osteogenic cells to biomaterials. Directions and estimates of treatment effect are useful to predict therapeutic efficacy and guide future clinical trials of bone tissue engineering.

This study reports three patients with Cat-eye Syndrome (CES), two of which present a previous clinical diagnosis of Craniofacial microsomia (CFM). Chromosomal microarray analysis (CMA) revealed a tetrasomy of 1,7 Mb at the 22q11.2q11.21 region, which is the typical region triplicated in the CES, in all patients. The most frequent craniofacial features found in individuals with CFM and CES are preauricular tags and/or pits and mandibular hypoplasia. We reinforce that the candidate genes for CFM features, particularly ear malformation, preauricular tags/pits, and facial asymmetry, can be in the proximal region of the 22q11.2 region.

This case report demonstrates a rare finding of a pediatric patient with Morning Glory anomaly and Moyamoya Disease with a palatal meningeal hamartoma discovered as a mass within a previously repaired incomplete cleft of the alveolus. Oral meningeal hamartomas are exceedingly rare with only two palatal cases described and none within a cleft palate or alveolus. These findings prompt a review of oral hamartomas with meningeal subclassification. Further discussion describes the relationship of the proposed origins of meningeal hamartomas within the setting of cleft palate development.

Evaluate periodontal bone support of maxillary central incisors (MCI) in patients with bilateral complete cleft lip and palate (BCCLP). Determine if syndromic diagnosis, age at time of alveolar bone graft (ABG), presence of maxillary lateral incisor (MLI), history of dentofacial orthopedics, maxillary expansion, and pre-maxillary osteotomy are associated with the periodontal bone support of MCI.

Retrospective radiographic study.

Tertiary care children's hospital.

One hundred seventy-nine patients with BCCLP (22 syndromic) who had post-operative ABG cone beam computed tomography (CBCT) scans taken between 2002-2018.

Crown to root (C/R) ratio of MCI measured on CBCT scans.

The C/R ratio in 65% of MCI indicated periodontally compromised teeth. Presence of a MLI improved bone support on adjacent MCI when compared to those missing a MLI (51.4% vs 28.4%, P = .010). There was no significant difference in C/R ratios for syndromic diagnosis, age at ABG, history of dentofacial orthopedics, maxillary expansion, and pre-maxillary osteotomy.

The majority of MCI in patients with BCCLP are periodontally compromised but bone support is improved when cleft adjacent lateral incisors are present.

Objective: The study primarily aimed to compare satisfaction with lip appearance among adults treated for unilateral cleft lip and palate (UCLP) with Skoog's primary lip repair procedure to those without clefts. The secondary aim was to determine whether satisfaction with lip appearance and the desire to change the lip/face appearance correlated with the number of secondary lip revisions performed.

Design: Long-term follow-up.

Patients/settings: All UCLP patients treated at the Uppsala University Hospital born between 1960- and 1987 (n  =  109) were invited. At an average of 37 years following the primary lip repair, the participation rate was 76% (n  =  83). A control group of adults without cleft (n  =  67) completed the same study protocol for comparison.

Main outcome measures: Satisfaction with appearance was measured with The Satisfaction with Appearance Questionnaire (SWA) and a modified version of the Body Cathexis -Scale was used to assess the desire to change the lip and facial appearance.

Results: UCLP patients were less satisfied with their lip, face, and overall appearance and reported a greater desire to change the appearance of their lips and face than non-cleft controls (p < 0.001). Dissatisfaction with lip appearance correlated to a greater willingness to change the appearance of the lip and face. No correlation was found between satisfaction with appearance and the number of the previously performed secondary lip revisions.

Conclusion: Adults treated for UCLP are less satisfied with the appearance of their lips compared to the non-cleft population. The number of secondary revisions does not necessarily correlate to greater satisfaction with lip appearance.