Cleft Palate-Craniofacial Journal最新文献

Introduction: Treacher Collins syndrome is a rare congenital disease characterized by the multiple craniofacial malformations. Although the deformities affecting patients with Treacher Collins syndrome have been well characterized, the effects of these malformations to clinical severity of the syndrome are not well understood.

Objective: To determine the association of specific Treacher Collins mandibular malformations with clinical severity.

Design: A retrospective radiographic observational study.

Setting: Study conducted at a single institution, a quaternary craniofacial care center.

Patients: 54 patients with Treacher Collins syndrome.

Interventions: Computed tomography (CT), clinical photographs and medical history were included in this analysis. Mandibles were isolated from CT data and reconstructed in three dimensions using Mimics software. Cephalometric measurements were performed on CT data. Clinical severity was determined by Teber and Vincent scores. Association of craniofacial dysmorphology to clinical severity was determined by Spearman rank coefficient.

Main outcome measures: The main results obtained were the measurements of the mandibles and the quantification of the malformations of the evaluated patients.

Results: Among the most frequent findings in the sample are hypoplasia of the zygomatic complex, descending palpebral cleft and mandibular hypoplasia. Patients with a lower ramus/corpus ratio had a higher (more severe) Teber and Vincent classification.

Conclusion: Patients with the most compromised mandible are also the patients with the highest number of malformations, thus, the most severe patients.

Objective: To determine the efficacy of hyaluronic acid (HLA) lip filler to correct subtle cleft lip asymmetries in adults using a validated patient reported outcome measure (PROM).

Design: Prospective cross sectional.

Setting: UK National Health Service.

Patients, participants: Over 18 years old with repaired cleft lip and dissatisfaction of their lip appearance.

Interventions: HLA lip filler injection.

Main outcome measures: A validated, cleft specific PROM, the lip module of CLEFT-Q™ prior to treatment and again after six weeks.

Results: 24 patients included. A mean total CLEFT-Q™ score pre-procedure was 14.9 (Stand deviation (SD) = 4.91) and 24 (SD = 6.08) post-procedure. Difference in mean total score pre- and post-procedure were statically significant (P = .0001) in all domains on the CLEFT-Q™. No adverse outcomes.

Conclusion: HLA filler to correct subtle cleft lip asymmetries in adults is a simple low risk technique, which can significantly improve the patient's perception of lip appearance.

Conclusion: HLA lip filler to correct subtle cleft lip asymmetries in adults is a simple technique, low risk procedure which can significantly improve the patient's perception of lip appearance.

Objectives: This study investigated the association of MSX1 gene variants rs3821949 and rs12532 with nonsyndromic cleft lip and/or palate (NSCL/P) in the Pakistani population.

Design: Comparative cross-sectional study.Setting: Multicenter of CL/P malformation.Patients/Participants: Unrelated Non-Syndromic cleft Lip/Palate patients and healthy controls were enrolled.

Methods: One hundred (n = 100) subjects with NSCL/P and n = 50 unrelated healthy controls were enrolled in a multicenter comparative cross-sectional study. A tetra amplification refractory mutation system (ARMS) polymerase chain reaction (PCR) was performed to analyze MSXI gene single nucleotide variants (SNVs).

Results: Among 100 NSCL/P subjects, the majority were males (56%; male: female = 1.27: 1). Most of the cases (74%) had cleft lip and palate (CLP) compared to isolated clefts. Genotyping of MSX1 gene variant rs3821949 showed an increased risk for NSCL/P in various genetic models (P < 0.0001), and the A allele exhibited a more than 4-fold increased risk among cases (OR = 4.22: 95% CI = 2.16-8.22; P < 0.0001). Our investigation found no significant difference between the rs12532 variation and NSCL/P.

Conclusion: Our study findings suggest that MSX1 gene variants may increase predisposition to NSCL/P in the Pakistani population. Further studies comprising large samples are required to identify the genetic aetiology of NSCL/P among our people.

Objective: To analyse the maxillary arch dimensions of children aged 9 and 12 with unilateral cleft lip and palate (UCLP) who received orthodontic treatment and secondary alveolar bone grafting.

Design: This retrospective cohort study was performed on 30 patients with UCLP.

Setting: All patients were treated at the Cleft Lip and Palate Centre, which is part of the University Medical Centre Amsterdam and Academic Centre for Dentistry Amsterdam, the Netherlands.

Patients/participants: Children with non-syndromic UCLP who received pre- and postsurgical orthodontics combined with secondary alveolar bone grafting between the ages of 9 and 12 years were included.

Main outcome measures: Maxillary arch dimensions were assessed on 60 digitised dental casts with measurements of the intermolar widths, interpremolar widths, arch perimeters, arch lengths, arch widths, and palatal depths.

Results: The results of a paired-samples t-test revealed a statistically significant increase (P < .05) in intermolar width 1, intermolar width 3, interpremolar width 1, arch perimeter, and arch width between the ages of 9 (T0) and 12 (T1). Intermolar width 2 and the palatal depth decreased statistically significantly between T0 and T1.

Conclusions: Analysis of maxillary arch dimensions of children with UCLP indicates significant changes between 9 and 12 years of age. This suggests that orthodontic treatment and secondary alveolar bone grafting can be effective in improving maxillary arch dimensions. However, there is a need for collaborative research and data collection in order to provide sensible and evidence-based care to patients with cleft lip and palate.

Objective: To determine associations of demographic, morphologic, and treatment protocol parameters with quality of life (QoL), appearance/speech satisfaction, and psychological adjustment.

Design: Observational study utilizing retrospective report of protocol variables and current outcome variables.

Setting: Six North American cleft treatment clinics.

Participants: Children, ages 8.0-10.99 years, with Cleft Lip ± Alveolus, Cleft Palate, Cleft Lip and Palate, and parents (N = 284).

Outcome measures: Pediatric QoL Inventory (PedsQL): Parent, Child, Family Impact Module (FIM); Patient Reported Outcome Measurement Information System (PROMIS); Child Behavior Checklist (CBCL); CLEFT-Q.

Results: Outcome scores were average with few differences by cleft type. Multiple regression analyses yielded significant associations (Ps < .05) between socioeconomic status, race, and age at assessment and parent- and self-reported measures. Females had higher PROMIS Depression (β=.20) but lower CBCL Affective (β = -.16) and PROMIS Stigma scores (β= -.24). Incomplete cleft lip was associated with lower PROMIS Depression, and more positive ratings of CLEFT-Q: Nose, Nostril, Lip Scar; CBCL Competence scores, (βs = -.17 to .17). Younger Age at Lip Closure was associated with higher CBCL School Competence (β= -.18). Younger Age at Palate Closure was associated with higher Child PedsQL Total, Physical, Psychosocial QoL, and better CLEFT-Q Speech Function (βs = -.18 to -.15). Furlow Palatoplasty was associated with more CBCL Externalizing Problems (β = .17) higher CBCL Activities (β = .16). For all diagnoses, fewer Total Cleft-Related Surgeries was associated with lower PROMIS Stigma and higher CBCL Total Competence and Activities (βs = -.16 to .15).

Conclusions: Demographic characteristics, lip morphology, and treatment variables are related to later psychological functioning.

Objective: To characterize the epidemiology, identify trends in prevalence, seasonality, and risk factors for orofacial clefts (OFC), selecting the São Paulo state (SPS) population database.

Design: A population-based study to estimate the OFC prevalence trends in recent years, stratified by maternal age and SPS geographical clusters.

Setting: All live births (LB) with OFC in SPS from 2008-2019.

Patients: 5342 cases of OFC among 7 301 636 LB.

Interventions: Not applicable.

Main outcome measures: OFC prevalence trends, annual percent change (APC) with a 95% confidence interval, and seasonality.

Results: We found an OFC prevalence of 7.3/10 000LB in SPS, Brazil. Among all the cases, the majority were male (57.1%), Caucasian (65.4%), 77.8% born at term, 75.8% weight >2500 g, 97.1% singleton, and 63.9% of births were by cesarean section. From 2008-2019, SPS presented a stationary OFC prevalence trend; in São Paulo city, the highest APC was observed (0.05%); the maternal age group with the highest OFC prevalence rate was ≥35 years (9.2/10 000LB). We identified the existence of seasonal variation based on the conception date in the final months of the year, corresponding to the spring season (P < .001).

Conclusion: OFC had a stationary prevalence trend in recent years, with the highest prevalence in the Central North Cluster and ≥35 years maternal age group. Seasonality was observed in the spring season, and congenital malformation of lips was the most common associated pathology. This population-based study is the first to summarize the current epidemiology of OFC in SPS.

Objective: Quantify the cost benefits of otoplasty under local as opposed to general anaesthesia.

Design: A cost analysis of all components of otoplasty surgery under local anaesthesia (LA) in a minor operating room (OR) and general anaesthesia in a main OR was performed.

Setting: Our institution, compared to provincial/federal data, with costs converted into 2022 Canadian dollars.

Patients, participants: Patients undergoing otoplasty under LA in the last year.

Interventions: An efficiency analysis was performed by means of an opportunity cost, and the cost of failure was added to the overall LA costs.

Main outcome measure: Expenses for infrastructure, surgical and anaesthetic material, salaries, and personnel costs were derived from the literature, our hospital OR catalog and federal/provincial salary data, respectively. The cost of failure to tolerate local anaesthesia for such cases was also tabulated.

Results: The true cost of LA otoplasty was computed as the absolute cost ($611.73) added to the cost of failure ($10.80), resulting in a total of $622.53/procedure. The true cost of GA otoplasty was calculated as the absolute cost ($2033.05) added to the opportunity cost ($1108.94), representing 3141.99$/procedure. The total savings when performing LA otoplasty to GA otoplasty are thus 2519.44$/case, with 1 GA otoplasty costing 5.05 LA otoplasties.

Conclusion: Otoplasty under local anaesthesia offers significant cost savings when compared with the same procedure under general anaesthesia. Economic considerations must be given particular attention given the elective nature of this procedure, which is often publicly funded.

Objective: Cleft lip repair (CLR) can be complicated by hypertrophic scar or keloid. Botulinum toxin type A (BTA) may improve postoperative scarring by reducing muscle tension and cytokine activity at the scar site. This systematic review analyzes the available evidence regarding the effect of BTA on scar quality after CLR.

Design: The search was conducted in 6 different databases in accordance with PRISMA guidelines (PubMed, Scielo, Embase, Scopus, Web of Science, and Cochrane) using "botulinum toxin" and "cleft lip" as keywords.

Setting: Academic hospital.

Patients: Exclusive to patients who underwent CLR and BTA injection.

Outcome measures: Mean visual analog scores (VAS), mean Vancouver scar scale (VSS), scar width, and BTA or CLR-related complications.

Results: Five studies for a total of 216 patients met inclusion criteria. Four studies reported on primary CLR during infancy while 1 study recruited older patients seeking revision. All patients had BTA (range: 1-2 units/kg) injected in the orbicularis oris muscle. One study documented BTA injections in additional perioral muscles. All 4 studies that measured scar width and had a saline control arm found a significant decrease in width with BTA injection. Improvement of VAS and VSS with BTA was reported in 3 of 5 studies and 2 of 5 studies, respectively. There were no reports of complications associated with BTA or CLR.

Conclusion: The existing studies support the use of BTA injection to improve scar quality following CLR with low concern for complication. Further investigations with a greater number of patients are necessary.

The recognition of syndromic forms of cleft palate is important for condition-specific management. Here, we report a patient with cleft palate, congenital heart disease, intellectual disability, and café-au-lait spots who had a deletion of chromosome 15q14. The identification of the precise breakpoints using a Nanopore-based long-read sequencer showed that the deletion spanned MEIS2 and SPRED1 loci. Cleft palate and café-au-lait spots can be ascribed to MEIS2 and SPRED1, respectively. Patients with cleft palate and café-au-lait spots should be encouraged to undergo a detailed genomic evaluation, including screening for a 15q14 deletion, to enable appropriate anticipatory medico-surgical management and genetic counseling.

Objective: The surgical outcomes of novel two-flap palatoplasty adding a buccinator musculomucosal flap were compared with those of conventional two-flap palatoplasty to clarify the effects of lengthening the nasal mucosa of the soft palate using a BMMF in cleft lip and palate or cleft palate cases.

Design: Retrospective, comparative study.

Setting: Tertiary, cleft team.

Patients: Non-syndromic patients undergoing primary cleft palate repair using two-flap palatoplasty with BMMF (BMMF group) or conventional two-flap palatoplasty (non-BMMF group).

Interventions: Palatoplasty between January 2012 and March 2020.

Main outcome measures: Perceptual Japanese speech evaluation, rate of an indication for additional speech surgery (AS), rate of incidence of oronasal fistula (IF) including spontaneously closing fistula, and rate of occurrence of oronasal fistula (OF) present for more than 3 months.

Results: Of 92 analyzed patients, 70 received two-flap palatoplasty with BMMF and 22 received two-flap palatoplasty. In the BMMF and non-BMMF groups, the respective percentage of hypernasality (no, mild) was 91.4% and 77.2%, no nasal emission was 71.4% and 63.6%, velopharyngeal function (competent, borderline competent) was 83.7% and 77.4%, intelligibility (very good, good) was 93.7% and 86.4%, AS was 1.4% and 13.6%, IF was 7.1% and 36.4%, and OF was 1.4% and 9.1%. Significant improvements were observed for AS (p  =  0.0412) and IF (p  =  0.00195) in the BMMF group, with no recorded major adverse effects.

Conclusion: Adding a BMMF on the nasal side of the soft palate to conventional two-flap palatoplasty significantly improved postoperative outcomes. This approach may therefore be a good option for cleft palate treatment.