Severe aortic valve stenosis in a 14-year-old boy with sitosterolemia

We report a 14-year-old boy finally diagnosed with sitosterolemia, presenting with severe aortic valve stenosis. Genetic analysis revealed homozygous null mutation c.1336 C > T (p.R446X) in ABCG5 gene. His cardiac ultrasound presented aortic valve stenosis and moderate aortic regurgitation. His whole aorta computed tomography angiogram scan revealed aortic stenosis superior to the aortic valve, followed by ascending aorta dilation, whereas his coronary and peripheral arteries appeared normal. His maximum total cholesterol and low-density lipoprotein-cholesterol levels dropped dramatically after diet control, and ezetimibe was prescribed for treatment. The current case indicated that sitosterolemia may be a heterogeneous disease in clinical phenotype.     

合并心内畸形动脉导管未闭的一期外科治疗

目的探讨合并心内畸形动脉导管未闭(PDA)的一期外科治疗及预防术中灌注肺的方法。方法26例患者,5例采用正中劈胸骨经心包外分离双重结扎PDA,5例外循环心脏不停跳下切开肺动脉直视缝闭PDA,16例深低温体外循环辅助心脏停跳下切开肺动脉直视缝闭PDA,同期行心内畸形矫治。结果1例出现围手术期肺灌注,无早期死亡病例,均痊愈出院,随访2个月至4年,恢复良好,无晚期死亡。结论心内畸形合并PDA应早行同期矫治,体外循环前或阻断主动脉前结扎或缝闭PDA能明显降低肺部并发症。     

Management of potentially malignant disorders: evidence and critique

At a workshop coordinated by the WHO Collaborating Centre of Oral Cancer and Precancer in the United Kingdom, issues related to management of patients affected by oral leukoplakia were discussed by an expert group. The consensus views of the working group are presented here. Although removal of a lesion still seems to be the predominant method of treatment by the majority of relevant health care professionals, no randomized controlled trials have been undertaken to test the hypothesis that excision either by scalpel or laser greatly influences the potential for later malignant transformation within the oral mucosa of an affected individual. Results of observational studies indicate that, although surgery may have a beneficial effect, this is not likely to reduce the risk of later recurrence nor malignant transformation at the same or another site. Medical measures that lessen the size, extent or histopathological features of dysplasia within leukoplakia likewise presently do not seem to be of particular promise, as relapse or later malignant transformation can occur, and there is a risk of adverse effects, particularly with systemic agents (which themselves may be contra-indicated in some individuals). While the risk of malignant transformation, and the development of further potentially malignant disease may theoretically be reduced by cessation of risk activities, such as tobacco usage and alcohol consumption, there remain no good studies that demonstrate that such measures significantly reduce such events.     

正畸正颌联合治疗唇腭裂继发牙颌面畸形

目的评价正畸正颌联合治疗唇腭裂继发牙颌面畸形的疗效。方法回顾性研究2000年7月～2005年9月广东省口腔医院治疗的20例唇腭裂继发牙颌面畸形患者。20例患者均行术前及术后正畸治疗,单纯采用上颌骨LeFortⅠ型截骨前移者1例,单纯采用双侧下颌升支矢状劈开后退术者1例,行LeFortⅠ型截骨前移术 双侧下颌升支矢状劈开后退术者15例,行LeFortⅠ型截骨前移术 双侧下颌升支矢状劈开后退术 颏成型术者3例。17例患者在正颌手术前行牙槽裂植骨。结果经治疗患者上颌前移(5.5±1.2)mm,下颌后退(7.2±2.5)mm。患者唇颏关系改善明显,咬合关系良好,但大部分患者鼻部仍有塌陷及偏斜畸形。患者术前后语音状况经语音师评估均无明显变化。结论正畸正颌联合治疗唇腭裂继发牙颌面畸形,可以较好地改善患者的容貌并取得良好的咬合关系。     

微型种植体做矫正支抗和正颌外科配合矫正上前牙牙根吸收率的比较

目的:观察微型种植体作矫正支抗和正颌手术配合矫正治疗后患者上前牙牙根吸收情况,了解牙根吸收率与牙齿移动距离和受力时间的关系。方法:通过测量牙片中的牙根长度,计算牙根吸收率。比较两种方法治疗前后不同及相同牙位、拔牙组及非拔牙组的牙根吸收率,同时记录疗程长短。结果:两种治疗方法的牙根吸收率差异没有显著性;但是治疗疗程差异有显著性。结论:两种治疗方法的牙根吸收率是一致的;牙根吸收率与牙齿移动距离和受力时间没有关系。     

Soft tissue response to mandibular advancement using 3D CBCT scanning

This prospective longitudinal study assessed the 3D soft tissue changes following mandibular advancement surgery. Cranial base registration was performed for superimposition of virtual models built from cone beam computed tomography (CBCT) volumes. Displacements at the soft and hard tissue chin (n = 20), lower incisors and lower lip (n = 21) were computed for presurgery to splint removal (4-6-week surgical outcome), presurgery to 1 year postsurgery (1-year surgical outcome), and splint removal to 1 year postsurgery (postsurgical adaptation). Qualitative evaluations of color maps illustrated the surgical changes and postsurgical adaptations, but only the lower lip showed statistically significant postsurgical adaptations. Soft and hard tissue chin changes were significantly correlated for each of the intervals evaluated: presurgery to splint removal (r = 0.92), presurgery to 1 year postsurgery (r = 0.86), and splint removal to 1 year postsurgery (r = 0.77). A statistically significant correlation between lower incisor and lower lip was found only between presurgery and 1 year postsurgery (r = 0.55). At 1 year after surgery, 31% of the lower lip changes were explained by changes in the lower incisor position while 73% of the soft tissue chin changes were explained by the hard chin. This study suggests that 3D soft tissue response to mandibular advancement surgery is markedly variable.     

Reconstruction of the temporal contour for traumatic tissue loss using a CAD/CAM-prefabricated titanium implant-case report

INTRODUCTION: A 16-year-old Arab boy had suffered from a severe head injury including an intracranial haematoma. Despite replantation of the bone flap later on, the cosmetic result was very unfavourable due to partial resorption of the reinserted bone and atrophy of the right temporalis muscle. AIM: For contour reconstruction of both soft and hard tissues the boy was transferred from Saudi Arabia. METHOD: A spiral CT was obtained and the contour was reconstructed using a new algorithm for surface generation. RESULT: The resulting titanium implant was inserted without complications or the need for revision. The cosmetic result was good and corresponded to the preoperative digital planning. CONCLUSION: Techniques of computer-assisted implant prefabrication and surgery may include special algorithms for considering soft tissues including contour deficits of the temporalis muscle.