Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1

Craniofrontonasal syndrome (CFNS) is an X-linked developmental malformation, caused by mutations in the EFNB1 gene, which have only been described since 2004. A genotype–phenotype correlation seems not to be present. As it is of major importance to adequately counsel patients with EFNB1 mutations and their parents, and to improve diagnosis of new patients, more information about the phenotypic features is needed. This study included 23 patients (2 male, 21 female) with confirmed EFNB1 mutations. All patients underwent a thorough physical examination and photographs were taken. If available, radiological images were also consulted. Hypertelorism, longitudinal ridging and/or splitting of nails, a (mild) webbed neck and a clinodactyly of one or more toes were the only consistent features observed in all patients. Frequently observed phenotypic features were bifid tip of the nose (91%), columellar indentation (91%) and low implantation of breasts (90%). In comparison with anthropometric data of facial proportions, patients with CFNS had a significantly different face in multiple respects. An overview of all phenotypic features is shown. Patients with EFNB1 mutations have a clear phenotype. This study will facilitate genetic counseling of parents and patients, and contribute to the diagnostic and screening process of patients with suspected CFNS.     

唇腭裂患者的语音异常检测及分析方法研究进展

先天性唇腭裂会造成患者语音功能异常,唇腭裂患者语音异常检测及分析方法的研究有助于对语音功能的矫正。该文就近期对唇腭裂患者语音检测及分析的方法作一综述。     

利用CT三维重建技术研究唇腭裂患者鼻腔畸形

目的利用三维重建技术研究唇腭裂继发鼻畸形患者鼻腔畸形特点。方法 收集34名单侧唇腭裂继发鼻畸形患者(平均年龄19岁)及39例健康人(平均年龄23岁)的CT数据,利用mimics17.0软件提供的工具对其进行表面重建法三维重建,获得关于其解剖形态的相关信息。结果单侧唇腭裂继发鼻畸形患者鼻腔畸形主要表现为,患侧总鼻道、中鼻道、下鼻道狭窄和堵塞;健侧总鼻道中部偏向患侧,前部及末端偏向健侧;患侧鼻阈区狭窄及后移位;患侧鼻底下沉。鼻畸形患者患侧鼻腔体积小于健侧。健侧、患侧平均体积相差约1.5cm 3。鼻畸形患者鼻腔体积平均为13.11cm 3,健康人鼻腔体积平均为17.85cm3,平均相差约4cm 3。鼻畸形患者鼻腔黏膜面积大于健康人。鼻畸形患者鼻腔黏膜面积/鼻腔体积比大于健康人。结论 三维重建显示唇腭裂继发鼻畸形患者鼻腔形态与健康人之间存在明显差异。     

Secreted protein, acidic and rich in cysteine-like 1 (SPARCL1) is down regulated in aggressive prostate cancers and is prognostic for poor clinical outcome

Prostate cancer is the second leading cause of cancer death among United States men. However, disease aggressiveness is varied, with low-grade disease often being indolent and high-grade cancer accounting for the greatest density of deaths. Outcomes are also disparate among men with high-grade prostate cancer, with upwards of 65% having disease recurrence even after primary treatment. Identification of men at risk for recurrence and elucidation of the molecular processes that drive their disease is paramount, as these men are the most likely to benefit from multimodal therapy. We previously showed that androgen-induced expression profiles in prostate development are reactivated in aggressive prostate cancers. Herein, we report the down-regulation of one such gene, Sparcl1, a secreted protein, acidic and rich in cysteine (SPARC) family matricellular protein, during invasive phases of prostate development and regeneration. We further demonstrate a parallel process in prostate cancer, with decreased expression of SPARCL1 in high-grade/metastatic prostate cancer. Mechanistically, we demonstrate that SPARCL1 loss increases the migratory and invasive properties of prostate cancer cells through Ras homolog gene family, member C (RHOC), a known mediator of metastatic progression. By using models incorporating clinicopathologic parameters to predict prostate cancer recurrence after treatment, we show that SPARCL1 loss is a significant, independent prognostic marker of disease progression. Thus, SPARCL1 is a potent regulator of cell migration/invasion and its loss is independently associated with prostate cancer recurrence.     

不完全型Tessier3号颅面裂手术矫治三例

目的 初步总结和分析不完全型Tessier 3号颅面裂的临床诊治.方法 2009至2010年北京大学口腔医学院·口腔医院口腔颌面外科共收治3例不完全型Tessier 3号颅面裂患者,均为男性,年龄分别为2、3和12岁.术前行CT检查明确局部骨缺损以及骨性泪道系统的情况.手术采用van der Meulen颊部旋转推进瓣和眶下畸形区域“Z”字瓣,术中重点悬吊错位的内眦韧带.术后1周和复查时评价手术效果.结果 3例患者术后面部伤口1周拆线,均Ⅰ期愈合.6 ～ 10个月复查,面部瘢痕不明显,内眦角外形、高度及睑裂长度与健侧基本一致.结论 本组采用软组织延长技术结合内眦韧带悬吊矫治不完全型Tessier 3号颅面裂,手术效果良好,畸形未见复发.     

山西人群MTHFR基因rs1801133位点多态性与非综合征性唇腭裂的关联性研究

目的:研究亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)基因rs1801133位点多态性与非综合征性唇腭裂(NSCL/P)的关系。方法:采用聚合酶链反应-限制性片段长度多态性方法,检测334例非综合征性唇腭裂患者和314例正常对照组的MTHFR基因rs1801133位点的多态性。结果:MTHFR基因rs1801133位点基因型频率分布符合Hardy-Weinberg平衡;MTHFR基因rs1801133位点基因型及等位基因的分布在NSCL/P组与对照组之间均无统计学意义(P>0.05)。结论:MTHFR基因rs1801133位点多态性与山西人群非综合征性唇腭裂的发生无关。     

计算机辅助设计在单侧完全性唇腭裂婴儿术前矫治中的应用

目的:评价计算机辅助设计在单侧完全性唇腭裂患儿术前矫治中的应用价值。方法:对10例单侧完全性唇腭裂新生儿取模,通过三维激光扫描仪对模型进行扫描并实现三维重建,三维诊断设计软件模拟整个错位上颌骨各骨段的矫正过程,并输出用于矫治器加工的数字模型。快速激光成型技术恢复矫治过程的模型并制作一系列矫治器,临床应用于单侧完全性唇腭裂患儿的术前矫正治疗。结果:经过3～4个月的术前矫正,错位牙槽骨排列成较为规则的弧形;唇部裂隙宽度减小,鼻翼塌陷畸形得到改善,鼻小柱偏斜得到纠正。结论:计算机辅助设计的单侧完全性唇腭裂患儿术前矫治能实现精确、量化的矫治目标,同时减少复诊次数,是一种高效、简洁的术前矫治方法。     

����ͻ��ֲ�ǵ���������

牙槽突裂植骨术已成为唇腭裂序列治疗中必不可少的一个环节,但其术后的评价目前还没有一个统一的标准。自从1986年Bergland提出牙槽突植骨分级标准以来,得到了全世界唇腭裂序列治疗专家们的广泛认可。但随着现代医疗技术的发展,尤其是三维CT技术的发展,为牙槽突植骨分级提供了更好、更新标准的可能。牙槽突植骨的评价不应只在二维X线片的基础上,应该建立在三维CT的基础上。因为牙槽突植骨是在一个有一定立体的空间内进行的。所以,牙槽突植骨的评价应该是三维空间的一个完整的评价。目前中国学者在这一方面已经做了一些良好的尝试。     

�����ѻ�������ͻ�ѹ�ȱ���޸����ϵ���״����չ����

牙槽突裂是唇腭裂患者常并发的上颌牙槽部骨缺损,目前的治疗仍以自体骨移植修复为主,但自体骨移植会造成取骨处术后疼痛、皮肤瘢痕、术后活动受限、供骨区意外损伤或术后感染等并发症的发生,从而使患者承担较大的额外风险,更主要的是自体取骨会给患者及其亲人增加巨大的精神负担,而常不易被患者接受。随着牙槽突裂植骨修复术的逐渐普及,采用人工材料代替自体骨移植修复牙槽突裂的研究逐渐受到大家的关注,本文就牙槽突裂修复材料的种类、机制及效果进行分析比较,并提出人工材料最终代替自体骨修复牙槽突裂是未来发展的方向。     

Synovial sarcoma of the neck masquerading as a malignant second branchial cleft cyst

Synovial sarcoma is an uncommon, aggressive malignant tumor of the soft tissues primarily involving the extremities of young adults. Head and neck synovial sarcoma is rare, and its diagnosis and therapy are still challenging.We report a case of a young patient with synovial sarcoma, clinically masquerading as cystic mass of the neck and malignant second branchial cleft cyst. The pathological diagnosis of the sarcoma was confirmed by a multimodality diagnostic protocol, including histological, immunohistochemical and molecular genetic analysis. The patient underwent complete surgical excision followed by postoperative radiotherapy and recovered well.