Study regarding the parent-of-origin effect of WNT pathway genes on non-syndromic cleft lip with or without cleft palate among the Chinese population / 中华流行病学杂志

Objective@#Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect with its genetic evidence widely explored. This study explored the potential the parent-of-origin (PoO) effect of WNT pathway on the risks of NSCL/P, using a case-parent trio design.@*Methods@#Data on the single nucleotide polymorphism (SNP) of WNT genes were selected from a genome-wide association study (GWAS). A total of 806 Chinese non-syndromic cleft lip patients, with or without cleft palate (NSCL/P) case-parent trios, were gathered from an international consortium. PoO effect of WNT pathway genes and its haplotypes were explored by log-linear models. Additional Wald tests were performed to assess: a) the heterogeneity of PoO effect between different maternal exposures, b) the interaction between PoO effect, c) maternal exposure to environmental tobacco smoke (ETS), and d) multivitamin supplementation during pregnancy. The threshold for statistical significance was adjusted as 3.47×10-4, according to Bonferroni correction.@*Results@#After quality control, a total of 144 SNPs within seven genes were included for analyses, among which 8 SNPs were of potential PoO effect (P<0.05). However, none of them achieved the statistical significance after Bonferroni correction. The haplotype rs4074668-rs12725747 (T-A) on WNT9A showed significant PoO effect, based on the haplotype test for PoO (P=2.74×10-4). In addition, no statistically significant interaction was found in further exploration of this haplotype under environmental exposures as ETS or multivitamin supplementation.@*Conclusions@#Genes in the WNT pathway may influence the NSCL/P risks through the potential PoO effect. Particularly, the haplotype rs4074668-rs12725747 (T-A) on WNT9A presented significant PoO effect on NSCL/P, statistically. From this current study, findings on WNT pathway related risks among the NSCL/P, need to be further validated by independent samples in the future.

Surgical correction of unilateral macrostomia with modified square vermilion flap / 中华整形外科杂志

Objective@#To evaluate the outcome of unilateral macrostomia repairment, using modified square vermilion flap for commissuroplasty and straight-line suture for buccal defect repair.@*Methods@#Forty-six patients (29 male, 17 female) with unilateral macrostomia underwent surgical interventions. All cases underwent the same surgical procedures: the commissuroplasty using modified square vermilion flap, cross-over lapping suture to reconstruct orbicularis oris muscle, and straight-line suture to repair buccal defect. Patients had the surgeries at the age of 3 months to 19 years (median age of 6.6 months). The static and dynamic facial appearance were recorded both preoperatively and postoperatively. The appearance of ipsilateral oral commissure, the symmetry of bilateral commissures, the appearance of transferred square vermilion flap, and the recovery of the buccal scar were observed.All patients were followed for more than 6 months (ranging from 6 months to 3 years, with an average of 11.5 months).@*Results@#All 46 patients healed well at stage I. The commissures of 42 cases were basically symmetrical in both horizontal and vertical directions.Forty patients had symmetrical mouth when smiling and mouth opening. The vermilion flap was transferred to the lower lip in 45 cases. Their scars were smooth, and almost invisible. However, 18 patients had different local mucosal protrusion. All the buccal wound showed straight lines, without distorting or deforming the nasofacial grooves, when smiling or mouth opening. The buccal scar of 43 cases is smooth and not obvious.@*Conclusions@#The modified square vermilion flap can effectively reconstruct commissure caused by macrostomia. A small local mucosal protrusion is very common at the site of transferred vermilion flap, which might need secondary surgical correction. The buccal wound can be closed by the straight-line suture method, without obvious scar left, and avoid asymmetrical commissures and distorted nasolabial grooves. The fine muscle reconstruction and stratified sutures are important for a good surgical outcome.

Surgical correction of velopharyngeal insufficiency in cleft palate patients with two procedures of reconstruction of radical intravelar veloplasties (IVVs) / 中华医学美学美容杂志

Objective To summarize the clinical outcomes of surgical correction of velophary geal insufficiency (VPI) with two procedures of radical intravelar veloplsties,and to discuss the indication selection of surgical technique.Methods 58 cases of various cleft palate were speech evaluated and diagnosed as mild to moderate VPI,who aged from 3 to 28 years (mean age 7.5 years).Group Ⅰ (36 cases) were performed surgery in the way of modified Furlow double-opposing Z-plasty.Group Ⅱ (22 cases) were performed surgery in the way of Sommerald radical IVV.All cases were followed up for 6 months to 1 year after surgery,with speech evaluation and objective examination of nasopharygoscopy and fixed position lateral X ray.The X-ray images of lateral view of velum was read through PACS image system.The effective work length of soft palate and the pharyngeal gap of the velum at rest and function were measured directly through PACS system.The data of each case before and after surgery were compared.Results 34 of 36 cases (94.50％) in modified-Furlow group and 21 of 22 cases (95.5％) in Sommerlad group finally recovered complete velopharyngeal closure.Compared between before and post operation,the effective work length of soft palate in modified Furlow group increased by 9.50±2.35 mm,the length in Sommerlad group increased by 7.50±3.32 mm.The differences were statistically significant by paired T test (P＜0.001).None of all cases complained nasal airway obstruction.Conclusions Both types of radical IVVs are highly effective to be recommended for surgical correction of mild to moderate VPI.Strict selection of surgical indication and excellent surgical skill are necessary for good treatment outcomes.

Progress in next-generation sequencing research of non-syndromic oral clefts / 中华流行病学杂志

Non-syndromic oral clefts (NSOC) are among the most common birth defects.The prevalence of NSOC is 1.13-1.30 per 1 000 live births in China,which is higher than those in other major ethnic groups.The etiology of NSOC is complex and heterogeneous,which involves both genetic and environmental risk factors.Although genome-wide association studies have identified a number of risk loci,these loci can only account for a small proportion of the heritability of NSOC.The next-generation sequencing research provides new ideas for further exploring the genetic risk factors of NSOC.This paper summaries the progress in the next-generation sequencing research of NSOC.

Progress in next-generation sequencing research of non-syndromic oral clefts / 中华流行病学杂志

Non-syndromic oral clefts (NSOC) are among the most common birth defects.The prevalence of NSOC is 1.13-1.30 per 1 000 live births in China,which is higher than those in other major ethnic groups.The etiology of NSOC is complex and heterogeneous,which involves both genetic and environmental risk factors.Although genome-wide association studies have identified a number of risk loci,these loci can only account for a small proportion of the heritability of NSOC.The next-generation sequencing research provides new ideas for further exploring the genetic risk factors of NSOC.This paper summaries the progress in the next-generation sequencing research of NSOC.

Outcomes of unilateral cleft lip repair by extended Mohler surgery / 中华医学美学美容杂志

Objective To study the long term effect and practical value of unilateral cleft lip repair with extended Mohler surgery based on over 10 years experiences.Methods A lot of 320 cases with unilateral cleft lip were repaired with extended Mohler surgery at average age of 5 months and 20 days.65 repaired cases were followed up and long term treatment result was evaluated.26 cases were evaluated in 10.5 to 15 years after surgery.39 cases were evaluated in 6 to 24 months after surgery.And the details of surgery were described.Results Excellent results for most of cleft patients (63 cases, 97%) were achieved, which included unobvious vertical scar symmetric to unaffected philtrum column, symmetric cupid's bow, nostrils and intermedial nasal columellae.Conclusions Extended Mohler surgery is great valuable for unilateral cleft lip repair.Appropriate indications should be stressed.

Measurement and evaluation of the vomer development of the patients with cleft palate / 实用口腔医学杂志

Objective:To evaluate the vomer development of cleft palate patients.Methods:38 patients over 1 4 years(averaged 23.4 years)of age with cleft palate and 76 controls of normal people(aged 22.8 year on average)were included.The 3D computed tomo-graphy reconstruction images of the bony nasal septum were measured.The development of the vomer was evaluated by comparing the L1 (the length of the lower edge of the vomer),L2 (the length from nasal spine to the point of the sella)and S (the approximate area of vomer)among deferent groups.Results:The L1 ,L2,and S of cleft palate patients were smaller than those of the controls(P <0. 05).Compared with the postoperative cleft cases,the S and L2 of preoperative cases were bigger(P <0.05).Conclusion:The vomer development is adversely affected by cleft palate.Not only the vomer-palate fusion is lower,but also the sutura between vomer and na-sal septum cartilage and ethmoid bone are short.And the latter is greatly influenced by surgical trauma.

Correlation analysis of hearing level and soft palate movement after palatoplasty / 中华口腔医学杂志

<p><b>OBJECTIVE</b>To explore the relationship between hearing level and soft palate movement after palatoplasty and to verify the importance of recovery of soft palate movement function for improving the middle ear function as well as reducing the hearing loss.</p><p><b>METHODS</b>A total of 64 non-syndromic cleft palate patients were selected and the lateral cephalometric radiographs were taken. The patients hearing level was evaluated by the pure tone hearing threshold examination. This study also analyzed the correlation between hearing threshold of the patients after palatoplasty and the soft palate elevation angle and velopharyngeal rate respectively.</p><p><b>RESULTS</b>Kendall correlation analysis revealed that the correlation coefficient between hearing threshold and the soft palate elevation angle after palatoplasty was -0.339 (r = -0.339, P < 0.01).The correlation showed a negative correlation. The hearing threshold decreased as the soft palate elevation angle increased. After palatoplasty, the correlation coefficient between the hearing threshold and the rate of velopharyngeal closure was -0.277 (r = -0.277, P < 0.01). The correlation showed a negative correlation. While, The hearing threshold decreased with the increase of velopharyngeal closure rate. The hearing threshold was correlated with soft palate elevation angle and velpharyngeal closure rate.</p><p><b>CONCLUSIONS</b>The movement of soft palate and velopharyngeal closure function after palatoplasty both have impact on patient hearing level. In terms of the influence level, the movement of soft palate has a higher level of impact on patient hearing level than velopharygeal closure function.</p>

The phonological characteristics and correction of glottal stop after cleft palate surgery / 中华口腔医学杂志

<p><b>OBJECTIVE</b>To investigate the phonological characteristics of glottal stop on the patients with speech disorders following cleft palate surgery or pharyngoplasty, and to determine the effects of a new method of speech training for glottal stop in chinese.</p><p><b>METHODS</b>Using the methods of listening judge and sound spectrograph in acoustic analyses to investigate the category and frequency of glottal stop on consonants in Chinese. A new method of speech therapy was used for 12 patients with glottal stop.</p><p><b>RESULTS</b>The frequency of glottal stop on the unaspirating affricates and unaspirating plosives were the highest in Chinese consonants. Secondly, the aspirating affricates and aspirating plosives, and then, the fricatives, but the nasal consonants were not effected by glottal stop completely. The score of articulations of the 12 patients whom trained through the methods increased from 32% to 85.5%.</p><p><b>CONCLUSIONS</b>The glottal stop is one of the main causes to impair the articulations of consonants and speech. The new methods of speech training for glottal stp are effective.</p>