Growth Patterns of the Maxillomandibular Complex in Preadolescent Patients With Pierre-Robin Sequence Using Cluster Analysis and Longitudinal Follow-Up Cephalometric Data.

OBJECTIVE: To investigate the growth patterns of the maxillomandibular complex in preadolescent patients with Pierre-Robin sequence (PRS). METHODS: The samples consisted of 20 preadolescent PRS patients who had cleft palate and did not undergo growth-modification therapy or surgical intervention [6 boys and 14 girls; mean age of lateral cephalograms taken, 8.8 y (T1) and 13.7 y (T2)]. According to k-means cluster analysis, four clusters were defined over 3 major groups at T1: (1) Both very retrusive maxilla and mandible group: Cluster-4 [n=4, very large gonial angle, very low facial height ratio (FHR)] and Cluster-1 (n=5, small gonial angle, normal FHR); (2) Retrusive maxilla and very retrusive mandible group (Cluster-3, n=7, normal gonial angle, very low FHR); and (3) Both normal maxilla and mandible group (Cluster-2, n=4, very large gonial angle, low FHR). Seven angular and ratio variables [sella-nasion-A point (SNA), sella-nasion-B point (SNB), A point-nasion-B point (ANB), saddle angle, gonial angle, mandibular-body-length/anterior-cranial-base-length (MBL/ACBL), and FHR] at T1 and T2 and growth change from T1 to T2 were investigated. RESULTS: At T1, SNA, SNB, saddle angle, gonial angle (all P<0.05), and FHR (P<0.01) showed significant difference among 4 clusters. At T2, SNA, SNB and gonial angle (all P<0.05) still showed significant difference among 4 clusters. During T1 to T2, there was no significant change in variables at each cluster except an increase in MBL/ACBL in Cluster-1 and FHR in Cluster-3 (all P<0.05). CONCLUSIONS: Preadolescent PRS patients exhibited diverse skeletal phenotypes at T1, which did not change significantly from their original skeletal patterns by growth during T1 to T2.

Comparison of Speech Outcomes Between Speech Therapy Only and Double-Opposing Z-Plasty Combined With Speech Therapy in Patients With Submucous Cleft Palate.

The purpose of this study was to compare speech outcomes in patients with submucous cleft palate (SMCP) between speech therapy alone and double-opposing Z-plasty (DOZ) combined with speech therapy. The subjects were 67 patients with SMCP (overt type, 45 males, 22 females), who were divided into the observation group (n=18), the speech therapy group (n=24; duration, 17.8 mo), and the DOZ and speech therapy (DOZ-speech therapy) group (n=25; median age at DOZ, 5.3 years, duration, 18.6 mo). The median age at initial and final speech assessments were 3 and 5 years. After age, sex, syndromic status, duration of speech therapy, surgery timing, and speech outcomes were investigated, statistical analysis was performed. After tailored interventions, both isolated and non-isolated SMCP patients experienced significant improvements in speech outcomes, including nasal emission, hypernasality, compensatory articulation, and unintelligible speech. Since comparable improvements were observed, there were no significant differences in the final assessments regardless of initial speech issues between the speech therapy group and the DOZ-speech therapy group (all P>0.05). In the DOZ-speech therapy group, the rate of achieving "socially acceptable" speech was 92.3% in isolated cases and 90% in non-isolated cases. Multivariate analysis revealed that DOZ showed a tendency to reduce hypernasality, compensatory articulation, and "unintelligible" speech; syndromic or developmental conditions influenced outcomes in nasal emission and hypernasality; and initial hypernasality and compensatory articulation were correlated with outcomes. Therefore, DOZ surgery could be recommended to resolve hypernasality and compensatory articulation in SMCP patients before speech issues worsen.

Genetic associations and parent-of-origin effects of PVRL1 in nonsyndromic cleft lip with or without cleft palate across multiple ethnic populations.

Objectives: This study investigated the associations of PVRL1 gene variants with nonsyndromic cleft lip with or without cleft palate (NSCL/P) by evaluating transmission distortion and parent-of-origin (POO) effects in multiple ethnic populations. Methods: We conducted allelic and genotypic transmission disequilibrium tests (TDT) on 10 single-nucleotide variants (SNVs) in PVRL1 using data from 142 Korean families with an affected child. POO effects were analyzed using the POO likelihood ratio test, comparing transmission rates of maternally and paternally inherited alleles. To assess generalizability and ethnic heterogeneity, we compared results from Korean families with data from the Center for Craniofacial and Dental Genetics, which included 2,226 individuals from 497 European and 245 Asian trios. Results: TDT analysis identified significant over-transmission of the rs7940667 (G361V) C allele in Korean families (p=0.007), a finding replicated in both Asian (p=6.5×10-7) and European families (p=1.6×10-10). Eight SNVs showed strong TDT evidence in larger Asian and European datasets after multiple comparison corrections (p<0.007). Of these, 4 SNVs (rs7940667, rs7103685, rs7129848, and rs4409845) showed particularly robust association (p<5×10-8). POO analysis revealed significant maternal over-transmission of the rs10790330-A allele in Korean families (p=0.044). This finding was replicated in European families (p=9.0×10-4). Additionally, 3 other SNVs, rs7129848 (p=0.001) and the linked SNVs rs3935406 and rs10892434 (p=0.025), exhibited maternal over-transmission in the validation datasets. Conclusion: Our findings provide robust evidence supporting the associations of PVRL1 variants with NSCL/P susceptibility. Further research is necessary to explore the potential clinical applications of these findings.

Characterization of cranial growth patterns using craniometric parameters and best-fit logarithmic growth curves.

Few studies have reported a complete quantitative database of cranial growth, from infancy to adulthood, as a reference through three-dimensional analysis. Our study aimed to characterize cranial growth patterns using craniometric parameters by establishing sex- and age-specific norms. In total, 1009 Korean patients (male-to-female ratio, 2:1; age range, 0-18 years) who underwent thin-slice computed tomography (CT) scans for head trauma were divided into 20 age groups, with a 6-month interval for those under 2 years and a 1-year interval for those over 2 years. After four reference planes [Frankfurt horizontal (FH), midsagittal, and two coronal planes passing the sella (S) and basion (B)] had been established, intracranial volume (ICV), anteroposterior diameter (APD), biparietal diameter (BPD), cranial heights (CHs), cephalic index (CI, BPD/APD), and height index (HI, CH-B/APD) were measured using Mimics software. Best-fit logarithmic curves were derived using a linear regression model. The best-fit curves for ICV (cm3) were y = 785.6 + 157*ln(age) for males (R2 = 0.5752) and y = 702 + 150.5*ln(age) for females (R2 = 0.6517). After adjustment for age, males had higher values of ICV, APD, BPD, and CHs than females (all p < 0.0001). ICV, APD, BPD, and CHs demonstrated a rapid increase during the first few months of life, reaching 90-95% of the adult size by 5-6 years of age, while CI and HI showed a continuous decline by 4%, regardless of sex. This study presented cranial growth references for more than 1000 of the Korean population aged up to 18 years. This might help to provide guidelines for diagnosis and treatment (including timing, amount, and direction) for cranial reconstruction in pediatric patients with craniosynostosis.

Possible effect of exercise with anti-fatigue nutrition on ROS-induced depression and suicide risk: a review.

PURPOSE: Epidemiological evidence shows that physical activity, including continuous stimulus changes and appropriate exercise programs, improves brain degeneration in the hippocampus, prefrontal cortex (PFC), and anterior cingulate cortex (ACC). Therefore, we investigated the possible synergistic effects of physical activity and nutrition in controlling chronic fatigue and reducing oxidative stress in patients at risk for depression and suicide. METHODS: We systematically reviewed the literature on various systemic factors related to the effects of 1) suppressing oxidative stress and 2) improving depression through exercise and nutrition. To conduct this review, we searched the PubMed database for papers published until May 1, 2024, using the terms "physical activity OR exercise" and "fatigue" OR "anti-fatigue," "oxidative stress" and "depression" and "suicide." We then reviewed the resulting list of articles related to antioxidant mechanisms. RESULTS: Appropriate physical activity and natural product intake can substantially change whole-body homeostasis and provide a way to overcome the threat of depression and suicide by regulating metabolites, scavenging free radicals, and neurotransmitters. CONCLUSION: Suicide and depression prevention play crucial roles in improving patients' quality of life. Our review provides evidence supporting the idea that exercise and antioxidant nutrition diminish oxidative stress and fatigue by improving the degeneration of the hippocampus, PFC, and ACC.