Cleft Palate-Craniofacial Journal最新文献

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.

Objective: Craniofacial microsomia (CFM) is a broad clinical term used to describe a congenital condition most commonly involving the underdevelopment of the external ear, mandible, soft tissues, and facial nerve. Despite medical advances, understanding of the psychological health and healthcare experiences of individuals with CFM and their caregivers remains limited. This article describes a research program designed to address these knowledge gaps, and identify opportunities for psychosocial intervention and improved healthcare provision.

Design: The Craniofacial microsomia: Accelerating Research and Education (CARE) research program aims to: 1) Conduct up to 160 narrative interviews with individuals and caregivers to validate a conceptual framework; 2) Administer an online international survey of up to 800 individuals with CFM and caregivers to identify predictors of psychological distress; 3) Perform up to 60 semi-structured interviews with healthcare providers and advocacy leaders to examine the extent to which current healthcare provisions address identified patient needs; and 4) Establish a participant registry to build a longitudinal database and develop an international community.

Results: Teams in the USA and UK have been established, alongside an international, interdisciplinary Advisory Committee. Data analysis for Aim 1 is ongoing and informing the delivery of Aims 2-3. Aim 4 is also in development. A dedicated website serves as a recruitment tool, educational resource, and mechanism for engaging with the CFM community.

Conclusions: The CARE program provides a comprehensive approach to understanding the experiences of individuals with CFM and their caregivers. Challenges encountered and lessons learned are shared for the benefit of the community.

Objective: To evaluate the outcomes of Secondary Alveolar Bone Grafting (SABG) in patients treated either in daycare or with multiple day hospitalization (MDH) in relation to costs and complication rates.

Design: Retrospective comparative cohort study.

Setting: The data was collected from two settings: Postoperative daycare or MDH after oral cleft surgery in an Academic Medical Center in The Netherlands.

Patients: Data of 137 patients with unilateral Cleft lip, alveolus, and palate (CLAP) treated between 2006-2018 were evaluated. Registered clinical variables: age, gender, cleft subtype, bone donor site, type of hospitalization, length of stay, additional surgery, complications, surgeons, and costs.

Interventions: Closure of the alveolar cleft with/without closure of the anterior palate.

Main outcome measures: Univariate analyses.

Results: Of the 137 patients, 46.7% were treated in MDH, and 53.3% in daycare. Total costs for daycare were significantly lower (P < .001). All patients treated in daycare received mandibular symphysis bone, whereas in MDH, 46.9% received iliac crest bone instead. Bone donor site was associated with postoperative care type. Complication rates were slightly but not significantly higher in daycare (26%) vs. MDH (14.1%) (P = .09). Most were Grade I (minor) according to Clavien Dindo classification.

Conclusions: Daycare after alveolar cleft surgery is about as safe as MDH, but significantly cheaper.

Objective: To compare the soft tissue measurements of the upper lip and the nose on the cleft side and the noncleft side before surgery, immediately after cheiloplasty and two months after surgery.

Design: Descriptive clinical study with one group, prospective.

Setting: Department of Odonto-Stomatology, Children's Hospital 1, at Ho Chi Minh City - Vietnam.

Patients: 31 patients with a unilateral complete cleft lip participated in this study, 30 patients were evaluated at the time two months after surgery.

Interventions: Interventions include PNAM and cheiloplasty by modified Millard technique.

Main outcome measures: Patients proceed to acquire 3D images of lips and nose, define landmarks and measure dimensions. There are 11 evaluators to be compared, p < 0.05 was considered statictical significance.

Results: After two months of surgery, on cleft side and noncleft side, the lengths of the upper lip were 10.87 ± 0.80 and 11.92 ± 0.78 (mm), the widths of the upper lip were 16.06 ± 1.10 and 16.40 ± 1.02 (mm), the heights of the nostril were 4.85 ± 0.44 and 5.93 ± 0.43 (mm), the lengths of columella were 4.08 ± 0.37 and 4.93 ± 0.38 (mm), and the widths of the nostril were 9.07 ± 0.37 and 8.37 ± 0.40 (mm).

Conclusion: Cheiloplasty by modified Millard technique on the patients who used PNAM showed that after two months of surgery, the morphology of the upper lip and nose has a slight disproportion with the nasolabial measurements of the cleft side being smaller than on the noncleft side.