Association Between PAX9 Single-Nucleotide Polymorphisms and Nonsyndromic Cleft Lip With or Without Cleft Palate

ABSTRACT: The purpose of this study was to investigate the contribution of PAX9 gene to the risk of nonsyndromic cleft lip with or without cleft palate (NS-CL/P). The samples consisted of 142 Korean NS-CL/P families (90 males and 52 females; 9 cleft lip, 26 cleft lip and alveolus, and 107 cleft lip and palate; 76 trios and 66 dyads). A total of 10 single-nucleotide polymorphisms (SNPs) were tested for association with Korean CL/P case-parent trios using transmission disequilibrium test (TDT) and conditional logistic regression models. The minor allele frequency, heterozygosity, and a χ test for Hardy-Weinberg equilibrium at each SNP were computed between parents. Pairwise linkage disequilibrium was computed as both D' and r for all SNPs. Both allelic and genotypic TDTs were performed for individual SNPs using family-based association test program. Sliding windows of haplotypes consisting of 2 to 8 SNPs were tested using haplotype-based association test program. Genotypic odd ratios were obtained from conditional logistic regression models using STATA software. The family-based TDT using individual SNPs and 2- to 8-SNP haplotypes of the gene indicated a significant association at rs17104928 (P = 0.014). The haplotype analysis revealed that the association was most significant for the haplotype consisting of 3 SNPs (rs2073247, rs17104928, and rs17176643; P = 0.007). G/A heterozygote at rs17104928 had a significantly increased association with NS-CL/P (genotypic odd ratio, 2.88; 95% confidence interval, 1.42-5.84; P = 0.0014, dominant model). The high-risk SNP and genotype may provide a better understanding of the etiologic role of PAX9 gene in NS-CL/P and potential options for genetic counseling.     

Co-development of autoimmune hepatitis and Sj?gren's syndrome triggered by the administration of herbal medicines

Autoimmune hepatitis (AIH) has been reported in association with Sjögren''s syndrome (SS). Drug-induced AIH has been rarely reported. A rare case of the co-development of AIH and SS in a 53-year-old woman after the consumption of herbal medicines is described. After admission, the patient complained of dryness in her mouth, and she was subsequently diagnosed with SS, which had not been detected previously. The patient''s bilirubin and aminotransferase levels initially decreased following conservative management; however, they later began to progressively increase. A diagnosis of AIH was made based on the scoring system proposed by the International Autoimmune Hepatitis Group. The patient was administered a combination of prednisolone and azathioprine, and the results of follow-up liver-function tests were found to be within the normal range. This is an unusual case of AIH and SS triggered simultaneously by the administration of herbal medicines.     

Morphometric evaluation of changes in the alveolar bone and roots of the maxillary anterior teeth before and after en masse retraction using cone-beam computed tomography

Objective:To evaluate the morphometric changes in the alveolar bone and roots of the maxillary anterior teeth (MXAT) after en masse retraction with maximum anchorage (EMR-MA).Materials and Methods:The samples consisted of 37 female adult patients who had Class I dentoalveolar protrusion (CI-DAP) and were treated by extraction of the first premolars and EMR-MA. Using three-dimensional cone-beam computed tomography taken before treatment and after space closure, the maxillary central incisors (MXCI, N  =  66), lateral incisors (MXLI, N  =  69), and canines (MXC, N  =  69) were superimposed using individual reference planes. After alveolar bone area (ABA), vertical bone level (VBL), root length (RL), root area (RA), and prevalence of dehiscence (PD) were measured at the cervical, middle, and apical levels, statistical analyses were performed.Results:On the palatal side, ABA significantly decreased in all levels of MXAT (P < .001; middle of MXC, P < .01). MXCI and MXLI exhibited a greater decrease in the ratio of change in palatal ABA than did MXC (cervical, P < .01; middle and apical, P < .05; total, P < .001). Palatal/labial ABA ratios decreased in MXCI (cervical, middle, total, P < .001; apical, P < .05) and MXLI (cervical, P < .001; apical, P < .05). They showed greater amounts and ratios of change in VBL on the palatal side compared to the labial side (all P < .001). The palatal side showed more PD in the cervical area than did the labial side (MXCI and MXLI, P < .001; MXC, P < .01). Significant root resorption occurred in MXAT (RL and RA, all P < .001).Conclusions:During EMR-MA in cases with CI-DAP, ABA and VBL on the palatal side and RL and RA of MXCI and MXLI were significantly decreased.     

Treatment outcomes according to neuropathic bladder sphincter dysfunction type after treatment of oxybutynin chloride in children with myelodysplasia

Purpose

We investigated the treatment outcomes according to neuropathic bladder sphincter dysfunction (NBSD) type after oral oxybutynin (OBT) treatment in children with NBSD caused by myelodysplasia.

Methods

Among 334 pediatric patients who were diagnosed with NBSD caused by myelodysplasia, only children treated with oral OBT for more than 1 year with pre- and post-treatment urodynamic studies and dimercaptosuccinic acid (DMSA) were retrospectively reviewed. We compared pre- and post-treatment urodynamic parameters including maximum cystometric capacity (MCC), MCC/estimated bladder capacity (EBC), and compliance by NBSD type in children. We also compared renal scarring on pre- and post-treatment DMSA by NBSD type in children.

Results

Our study population was comprised of 81 children (45 boys and 36 girls), with a mean age of 4.2 ± 3.4 years. The mean follow-up duration was 4.5 (range 1.0–15.1) years. After OBT treatment, MCC was increased significantly in all types of NBSD from 110.3 ± 62.2 to 202.3 ± 103.9 ml (p < 0.05), compliance was significantly improved from 6.4 ± 6.1 to 11.1 ± 9.6 ml/cmH₂O (p < 0.05), but MCC/EBC was slightly decreased from 75.2 ± 46.9 to 69.8 ± 33.3 % (p = 0.40). Sub-analyzed by NBSD type, the pre-treatment compliance of children with acontractile detrusor with spastic sphincter (n = 16) was markedly decreased compared with other types of NBSD. Acontractile detrusor with spastic sphincter demonstrated the worst renal deterioration on DMSA.

Conclusions

Although increases in MCC/EBC were limited, oral OBT treatment markedly improved MCC and compliance in all NBSD types. Children who had acontractile detrusor with spastic sphincter had a relatively high probability of renal deterioration and required specific attention.     

The Effect of Zoledronic Acid on the Volume of the Fusion-Mass in Lumbar Spinal Fusion

Background

Few studies have explored the effects of bisphosphonates on bony healing in patients undergoing spinal fusion surgery. Most previous studies used animal models and found that bisphosphonate shows negative effects on spinal fusion consolidation. We intended to evaluate the effect of a single-dose of zoledronic acid on the volume of the fusion-mass in lumbar spinal fusion.

Methods

A retrospective review was carried out on 44 patients with symptomatic degenerative lumbar spinal stenosis who underwent one or two-level posterolateral fusion from January 2008 and January 2011. They were divided into 4 groups: group 1, autograft and zoledronic acid; group 2, allograft and zoledronic acid; group 3, autograft alone; and group 4, allograft alone. Functional radiography and three-dimensional computed tomography scans were used to evaluate and quantify the volume of the fusion-mass. The visual analog scale (VAS), the Oswestry disability index (ODI), and the short form 36 (SF-36) were used to evaluate the clinical outcomes.

Results

The mean volume of the fusion-mass per level was 8,814 mm³, 8,035 mm³, 8,383 mm³, and 7,550 mm³ in groups 1, 2, 3, and 4, respectively, but there were no significant differences between the groups (p = 0.829). There were no significant decreases in the volume of the fusion-mass (p = 0.533) in the zoledronic acid groups (groups 1 and 2). The VAS, the ODI, and the SF-36 at the 6-month follow-up after surgery were not significantly different (p > 0.05) among the 4 groups. The VAS, the ODI, and the SF-36 were not correlated with the volume of the fusion-mass (p = 0.120, 0.609, 0.642).

Conclusions

A single dose of zoledronic acid does not decrease the volume of the fusion-mass in patients undergoing spinal fusion with osteoporosis. Therefore, we recommend that zoledronic acid may be used after spinal fusion in osteoporotic patients.     

Evaluation of canting correction of the maxillary transverse occlusal plane and change of the lip canting in Class III two-jaw orthognathic surgery

Objective:To compare the effect of canting correction in anterior maxillary transverse occlusal planes (AMTOP) and posterior maxillary transverse occlusal planes (PMTOP) on the change of lip canting (LC) in two-jaw surgery (TJS) cases.Materials and Methods:The samples consisted of eight young adult patients (three males and five females, mean age  =  24.1 ± 4.5 years) who had skeletal Class III malocclusion (CIII), facial asymmetry (FA), and LC and who underwent TJS. Two-dimensional lateral and posteroanterior cephalograms and three-dimensional facial scanning taken 1 week before (T1) and 6 months after TJS (T2) were combined using the Morpheus 3D program. Six linear and angular variables were measured and statistically analyzed.Results:When comparing the values of the linear and angular variables at the T1 and T2 stages there was significant canting correction of AMTOP (1.7 mm vs −0.3 mm; 3.0° vs 0.1°), PMTOP (3.5 mm vs 0.1 mm, 3.3° vs −0.1°), and LC (3.0 mm vs 0.7 mm, 4.7° vs 2.1°) (all P < .05). Although the angular change ratios (ΔLC/ΔAMTOP and ΔLC/ΔPMTOP) did not exhibit a significant difference (0.99 vs 0.83), the linear change ratio of ΔLC/ΔAMTOP was significantly higher than that of ΔLC/ΔPMTOP (1.67 vs 0.74, P < .05). The angular change of ΔLC showed a significant correlation with ΔAMTOP (r²  =  0.64; P < .05). However, the linear change of ΔLC was significantly correlated with both the angular and linear changes of ΔAMTOP (r²  =  0.62 and 0.66; both P < .05). Therefore, the amount of LC change was more related to the canting correction of AMTOP than to that of PMTOP.Conclusion:In TJS cases with CIII, FA, and LC, the amount of canting correction of the AMTOP should be considered to predict the actual LC change.