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Turner syndrome is a disease resulted from the complete or partial loss of an X chromosome, and the typical karyotype is 45, X. Patients with Turner syndrome are susceptible to many medical problems, including short stature, congenital agenesis of ovaries and cognitive function impairment. More specifically, recent studies reported that these patients’ brain structure and brain function are different with normal people, especially in the occipital area, the amygdala, the prefrontal cortex and temporal lobe.And they also show a particular pattern of cognitive impairment(including visuospatial ability, abstract reasoning and excutive function) and social impairment and an increased risk of specific neurodevelopmental disorders. Additionally, haploinsufficiency of escape genes, gonadal steroid deficiency and failure to express parentally imprinted genes may contribute to the differences in brain structure and brain function between these patients and normal people, causing cognitive and social impairment in patients with Turner syndrome. This study reviewed the alterations and biological mechanisms in brain structure, brain function and cognitive profile in patients with Turner syndrome.
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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.
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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.
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Objective@#To study serum HCV antibody (anti-HCV) with geographic distribution characteristics in Zhejiang Province.@*Methods@#A stratified random cluster sampling method was used. Serum samples of the surveyed population were collected from selected hospitals, anti-HCV antibodies were examined, then hepatitis C infection rates among different genders, regions and age groups were analyzed. The anti-HCV rate was compared using the χ 2 test.@*Results@#The average anti-HCV positive rate in Zhejiang Province was 0.24% [95% confidence interval (CI): 0.16% ~ 0.32%]. The antibody positive rate in the plain area was 0.32% (95% CI: 0.19% ~ 0.45%), which was significantly higher than the coastal islands 0.05%(95% CI: 0.00% ~ 0.12%, χ 2 = 7.638, P < 0.05). There was no significant difference between plain area and hilly area 0.22% (95% CI: 0.03% - 0.41%). There was no statistically significant difference in anti-HCV positive rates between males and females (χ 2 = 2.238, P = 0.135). The highest positive rate of anti-HCV (0.93%) was in the population aged 56-60 years and the lowest in the population aged less than 20 years. Anti-HCV positive rate of all age groups in 2017 was lower than that of 2006 seroepidemiological study of hepatitis C.@*Conclusion@#Zhejiang Province is a region with low anti-HCV positive rate and the disease prevalence further reduced than 10 years ago. The positive rate of anti-HCV in plain areas is higher than islands. Middle-aged and elderly people are the age group with high prevalence, and the anti-HCV positive rate in people under 20 years old is exceptionally low. Gender differences in anti-HCV positive rate have little effect.
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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.
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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.
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Objective@#To investigate the effect of immediate bone grafting at mandibular first molar extraction socket on maintaining alveolar bone height after space closure.@*Methods@#Thirty adult orthodontic patients who need to extract mandibular first molar, totally 38 target teeth, were included. The samples were divided into two groups randomly: graft group and non-graft group. All extraction space was closed orthodontically. Dental models of all patients were taken before extraction (T0), before space closure(T1) and after space closure (T2). The distance, time of the space closure and the velocity of tooth movement were recorded. Probing depth (PD) and clinical attachment level (CAL) at six sites (mesial buccal, buccal, mesial lingual, lingual, distal buccal and distal lingual) on adjacent teeth were measured before extraction (T0) and after space closure (T2). Cone-beam CT (CBCT) was taken at T0 and T2 to compare the changes of alveolar bone height at six sites on adjacent teeth using Invivo Dental 5.0 software.@*Results@#The extraction space in both graft group and non-graft group was closed successfully. However, the space in graft group was closed more slowly than in non-graft group. In graft group, PD and CAL at the six sites on both the second molar and the second premolar did not change significantly after space closure, and CBCT showed that the alveolar bone height of the second premolar had no significant difference after treatment. In non-graft group, alveolar bone height decreased in both adjacent teeth and periodontal attachment loss was found after space closure. On average, alveolar bone height and periodontal attachment of the second premolar decreased (0.75±0.16) mm and (0.64±0.15) mm, respectively. Meanwhile, alveolar bone height and periodontal attachment of the second molar decreased (0.79±0.23) mm and (0.80±0.24) mm, respectively.@*Conclusions@#Bone graft immediately after mandibular first molar extraction could delay alveolar bone resorption and preserve the periodontal attachment of the adjacent teeth during space closure. However, the procedure could slow down tooth movement.
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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.
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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.
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<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>