Molecular basis of familial cleft lip and palate

Cleft lip and palate (CLP) is one of the commonest congenital malformations and although the aetiology is still very unclear, a familial genetic component is considered to be an important factor in certain individuals. Molecular biology techniques are being used to identify the genes involved and this paper reviews current knowledge and the advances that have already been made. Recent evidence suggests a potential major gene on 6p, and a modifying role for transforming growth factor alpha (TGFA). Moreover retinoic acid receptor alpha (RARA) (17q), MSXl (4p), 4q and BCL3 (19q) could all be implicated in certain CLP families. In addition, the potential modifying role of various genes with the environment are considered to be important areas of research in the future. The identification of a genetic locus associated with this disease would be an important advance in CLP genetic counselling and lead to a better understanding of the genetic basis of CLP.     

Clinicopathological analysis of ATRX,DAXX and NOTCH receptor expression in angiosarcomas

Aims

Multiple genetic alterations, including alternative lengthening of telomeres (ALT) and NOTCH mutations, have been described in angiosarcoma. Loss of α‐thalassaemia/mental retardation syndrome X‐linked (ATRX) and death domain‐associated protein 6 (DAXX) expression is frequently associated with the ALT phenotype. Additionally, inhibition of NOTCH signalling induces the development of malignant vascular tumours in mice, indicating a tumour suppressive role of the NOTCH pathway in the pathogenesis of angiosarcoma. The aim of this study was to evaluate the immunohistochemical expression of ATRX, DAXX and NOTCH receptors (NOTCH1 and NOTCH2) in a large cohort of angiosarcomas, and study their clinicopathological and prognostic significance.

Methods and results

One hundred and forty cases of angiosarcoma were stained for ATRX, DAXX, NOTCH1 and NOTCH2. ATRX loss (<10% labelling) was seen in seven of 118 (6%) cases, and was more frequent in deep soft tissue tumours than in other body sites (P = 0.004). Angiosarcomas with ATRX loss were associated with worse event‐free survival than angiosarcomas with retained ATRX expression (P = 0.003). DAXX was retained in all specimens examined. Decreased NOTCH1 expression (≤1+ intensity) was seen in 29 of 123 (24%) cases, and was associated with a cutaneous site of origin (P = 0.013) and advanced disease (P = 0.026). NOTCH2 expression was decreased in 16 of 103 (16%) cases, was associated with visceral tumours (P = 0.001), and correlated with worse disease‐specific survival (P = 0.033).

Conclusions

ATRX, NOTCH1 and NOTCH2 expression varies in angiosarcomas and shows significant correlations with site of origin and poor clinical outcome, thus highlighting the biological heterogeneity within this tumour type.     

The use of bisphosphonates in children: review of the literature and guidelines for dental management

Bisphosphonates are inhibitors of osteoclastic bone resorption with therapeutic benefit in a variety of bone disorders in both adults and children. While these agents have been routinely used in adults for the past three decades, their more recent introduction into paediatric medicine means there is a paucity of data on long‐term safety and effects on dental development. There is uncertainty regarding the dental management of children treated with bisphosphonates, particularly when invasive dental procedures, such as extractions and oral surgical procedures, are required. There are limited data with which to make recommendations about the dental management of patients treated with bisphosphonates, and there are no published recommendations that specifically address paediatric patients. This paper aims to outline paediatric uses and adverse effects of bisphosphonates and present recommendations on the dental management of children receiving bisphosphonates.     

Clinical profile and long term outcomes of eyes with choroidal detachment following trabeculectomy

Purpose:To assess the long-term outcomes of choroidal detachments (CDs) in eyes following trabeculectomy.Methods:Retrospective comparative case series. Data of patients with CDs following trabeculectomy (5-year period) with or without cataract surgery with a minimum of 3 months of follow-up were included.Results:In total, 45 patients with CDs following trabeculectomy were included. The mean age was 63.27 ± 8.68 years, (M:F = 2:1); 29 of 45 eyes (64.4%) had a baseline IOP of >24 mm Hg. Patients had a median follow-up of 22.2 (IQR: 16.2–30.5) months. Further, 10 of 45 eyes (22.2%) had CDs following suture lysis. The median onset of choroidal detachment from the time of surgery was 16.0 (IQR: 11–36) days. The mean BCVA improved from 0.62 ± 0.28 to 0.24 ± 0.27 (P < 0.001) and mean IOP increased from 4.07 ± 2.66 to 11.20 ± 5.31 (P < 0.001) at last visit. The cumulative success rates were 76.4% (95% CI: 48.4–90.5) in POAG eyes and 79.3% (95% CI: 62.8–89.1) in PACG eyes (P = 0.547). Medical management was the mainstay in all patients. Four of 45 (8.88%) patients underwent subsequent choroidal drainage.Conclusion:Choroidal detachment following modern-day trabeculectomy has favorable long-term visual acuity and IOP outcomes. There was no difference in the long-term surgical success of trabeculectomy with choroidal detachments in primary angle-closure and open-angle glaucoma eyes. Long-term follow-up is essential to prevent chronic hypotony and trabeculectomy failure.     

安徽省2007～2008年志贺氏菌流行株菌型分布及脉冲场分子分型

目的了解安徽省志贺氏菌的流行菌型,并建立脉冲场凝胶电泳（PFGE）分子分型方法,为菌痢防控提供理论基础。方法对22株志贺氏菌进行血清分型、药物敏感试验和PFGE试验。结果22株志贺氏菌血清分型：B群19株,占总数86.5%;C群1株,占总数的4.5%;D群2株,占总数的9.0%。成功建立了菌痢的PFGE分子分型方法,并将我省22株流行株分为若干带型。试验结果进一步作聚类分析。结论安徽省菌痢流行株以福氏为主;安徽省PFGE分子分型方法和初步带型数据库对提高细菌检测水平有一定意义。     

超长段尿道狭窄术后勃起功能的评估

目的 探讨自体组织替代治疗超长段尿道狭窄对勃起功能的影响.方法 回顾性分析2007年1月至2009年1月采用不同自体组织补片(阴囊纵隔、包皮内板、口腔黏膜)Onlay术式替代治疗超长段男性尿道狭窄患者的临床资料,并随访患者ⅡEF-5评分、QOL评分及最大尿流率,并与术前相应情况进行分析.结果 根据研究标准收集23份有效数据.患者术前及术后3、6、12个月QOL评分分别为5.22±0.75、1.22±1.40、1.82±1.17、2.07±0.46,最大尿流率分别为(3.93±3.62)、(22.46±4.65)、(23.81±6.22)、(21.52±7.44)ml/s,术后不同时期均较术前明显改善(P＜0.01).术前及术后3、6、12个月ⅡEF-5评分分别为14.47±9.55、14.70±5.32、14.26±3.29和14.58±3.62,组间比较差异无统计学意义(P＞0.05).9例狭窄部位累及至后尿道者术后3、6、12个月ⅡEF-5评分分别为11.67±2.59、12.35±1.83、13.19±1.67,14例单纯前尿道狭窄者分别为17.79±6.42、16.57±4.78、16.01±3.85,2组间比较差异均有统计学意义(P＜0.05).狭窄累及后尿道患者多元线性回归分析中,年龄、受伤时间及尿道狭窄段长度与替代术后ⅡEF-5评分呈多元线性相关.结论 自体组织替代治疗男性超长段尿道狭窄对勃起功能影响不明显;狭窄段累及后尿道时可能对患者勃起功能产生一定影响.患者年龄和受伤时间对勃起功能有协同影响作用.

Abstract：

Objective To investigate the effect of substitutive reconstruction of long urethral stricture on male erectile function. Methods From January 2007 to January 2009, 23 patients with anterior or posterior long urethral stricture were accepted for a variety of onlay substitutive procedures, including lingual mucosa, perputial skin, and mid-scrotal skin. During the follow-up, data from the International Index of Erectile Function-5 (ⅡEF-5) questionnaire and the Quality of Life (QOL) questionnaire as well as maximal flow rate were recorded. All data were compared with those obtained before surgery. Results Significant improvement in QOL (1.22 ± 1.40, 1.82 ± 1. 17,2.07± 0.46) and maximal flow rate (22.46± 4.65, 23.81 ± 6.22, 21.52 ±7.44 ) could be observed 3, 6 and 12 months after surgery compared with those before surgery (5. 22 ± 0. 75, 3. 93 ± 3. 62)(P＜0.01). No significant differences in the responses to the ⅡEF-5 questionnaire were observed among all patients during the follow-up (P＞0. 05). At the 3, 6 and 12 months after procedure,scores of ⅡEF-5 in patients with anterior urethral stricture ( 17.79 ± 6.42, 16. 57 ± 4. 78, 16.01 ±3.85) were significantly higher than those with posterior urethral stricture (11.67 ± 2.59, 12.35 ±1.83,13. 19±1.67, P＜0.05). In patients with posterior urethral stricture, the multiple linear regression showed that age, time interval of injury and length of stricture were related to the ⅡEF-5score (P＜0.05). Conclusions Substitutive reconstruction for treating the long urethral stricture has little effect on male erectile function. But the location of stricture, especially extended to posterior urethra, may have impact on the erectile function.