Search

This study was to investigate the single nucleotide polymorphism (SNP) in the interferon regulatory factor 6 (IRF6) gene in healthy residents of Guangdong Province, China, for further analysis of their associations with the development of cleft lip with or without palate (CL/P).

Objective: To develop a modified presurgical nasoalveolar molding (MPNAM) with a premaxillary appliance, connected with two stainless steel wires and evaluate its therapeutic efficacy in newborns with complete bilateral cleft lip and palate (BCLP)., Method: A total of 41 patients with neonatal complete BCLP having a severely protruded and deviated premaxilla were retrospectively selected from January 2017 to November 2019. All patients received the MPNAM device with a premaxillary appliance which was worn until cheilorrhaphy. Plaster casts from pre- and post-MPNAM treatments were scanned using a three-dimensional laser scanner, and the changes were recorded. Facial photographs of patients were taken during the treatment., Result: The average MPNAM treatment duration was 59.8 days. In all cases, the protrusive and deviated premaxilla was rapidly retracted and set into a suitable position after MPNAM treatment. The relative deviation distance and alveolar cleft width were significantly reduced. Both mid-palatal arch width and posterior arch width were increased. In addition, none of the patients developed any complications during the MPNAM treatment., Conclusion: Our MPNAM device was able to rapidly centralize the malpositioned premaxilla and reduce the alveolar cleft defect. This device can be applied in presurgical orthodontic treatments for patients with complete BCLP having a severely protruded and deviated premaxilla., Competing Interests: None., (AJTR Copyright © 2022.)

Objective: To explore the application value of Furlow palatoplasty in reconstruction of velopharyngeal insufficiency (VPI) after cleft palate surgery., Methods: Between August 2015 and January 2017, 48 patients with VPI after cleft palate surgery were treated with Furlow palatoplasty. There were 29 males and 19 females, aged from 4 to 17 years (mean, 6.1 years). There were 16 cases of incomplete cleft palate and 32 cases of complete cleft palate; and 16 cases of soft cleft palate and 32 cases of soft and hard cleft palate. The interval between first cleft palate surgery and Furlow palatoplasty was 3 to 13 years (mean, 5.9 years). The patients were accompanied by significant open rhinolalia and nasal leakage. The degree of velopharyngeal closure assessed by electronic nasopharyngeal fiberoptic endoscopy was grade Ⅲ. The operation time and intraoperative blood loss were recorded. The total length of palate, the length of soft palate, the depth of pharyngeal cavity, and the width of pharynx and palate arch were measured before operation and at immediate after operation, and the change of the above indexes before and after operation was calculated. According to the results of clinical assessment, the patients were allocated into three groups: velopharyngeal competence (VPC) group, marginal velopharyngeal inadequacy (MVPI) group, and VPI group. The relationship between the soft palate and the posterior pharyngeal wall was evaluated by lateral cephalometric radiographs at 3 months after operation, and the patients were allocated into complete contact group, point contact group, and non-contact group. The velopharyngeal closure was evaluated by electronic nasopharyngeal fiberoptic endoscopy (grade Ⅰ, Ⅱ, Ⅲ). Spearman analysis was used to analyze the correlation between the changes of the total length of palate, the length of soft palate, the depth of pharyngeal cavity, and the width of pharynx and palate arch before and after operation. The contact degree of soft palate and posterior pharyngeal wall and the closure degree of pharynx and palate were grouped separately, and the above indexes were analyzed statistically., Results: The operation time was 35-64 minutes (mean, 41 minutes); the intraoperative blood loss was 3-10 mL (mean, 6 mL). All patients were followed up 3 months. After 3 months of operation, the clinical evaluation results were 34 cases of VPC, 7 cases of MVPI, and 7 cases of VPI. Lateral cephalometric radiographs showed that 30 cases had complete contact with the posterior pharyngeal wall, 11 cases had point contact, and 7 cases had no contact. Electronic nasopharyngeal fiberoptic endoscopy showed that the pharyngeal closure function was improved to varying degrees, 29 cases of grade Ⅰ, 12 cases of grade Ⅱ, and 7 cases of grade Ⅲ. There were significant differences in the total length of palate, the length of soft palate, the depth of pharyngeal cavity, and the width of pharynx and palate arch between pre- and post-operation ( P <0.05). Spearman correlation analysis showed a correlation between the change in the total length of palate before and after operation and the change in the length of soft palate ( r =0.448, P =0.001). There were significant differences in the changes of total length of palate, the length soft palate, and the depth of pharyngeal cavity before and after operation between VPC, MVPI, and VPI groups ( P <0.05); and there was no significant difference in the change of the width of pharynx and palate arch before and after operation between groups ( P >0.05). There were significant differences in the changes of total length of palate and the length soft palate before and after operation between complete contact, point contact, and non-contact groups ( P <0.05); and there was no significant difference in the change of the depth of pharyngeal cavity and the width of pharynx and palate arch before and after operation between groups ( P >0.05)., Conclusion: Furlow palatoplasty can restore the VPI after cleft palate surgery, which can effectively prolong the soft palate and reduce the depth of the pharynx. It can cover the physiological and anatomical morphology of velopharyngeal closure significantly and improve the velopharyngeal function.

Objective: To analyze the correlation between the genotype and phenotype of 18q deletion syndrome with chromosome microarray analysis (CMA)., Methods: Eight cases with 18q deletion syndrome were selected, including two affected fetuses and six children patients. DNA was extracted and hybridized with Affymetrix CytoScan TM 750K arrays following the manufacturer's standard protocol. The data was analyzed with a special software package., Results: CMA analysis identified pathogenic copy number variations (CNVs) on 18q in all cases, which ranged from 6.612 Mb to 22.973 Mb. NFATC1, GALR1, MBP, SALL3 and TSHZ1 are likely to be causative genes for congenital heart disease, psychological, growth retardation, and cleft palate., Conclusion: CMA can precisely locate the breakpoints of 18q and facilitate definition of the genotype-phenotype correlations, which is useful for prognosis.