Functional characterization of CEP250 variant identified in nonsyndromic retinitis pigmentosa

Retinitis pigmentosa (RP) is the most common manifestation of inherited retinal diseases with high degree of genetic, allelic, and phenotypic heterogeneity. CEP250 encodes the C‐Nap1 protein and has been associated with various retinal phenotypes. Here, we report the identification of a mutation (c.562C>T, p.R188*) in the CEP250 in a consanguineous family with nonsyndromic RP. To gain insights into the molecular pathomechanism underlying CEP250 defects and the functional relevance of CEP250 variants in humans, we conducted a functional characterization of CEP250 variant using a novel Cep250 knockin mouse line. Remarkably, the disruption of Cep250 resulted in severe impairment of retinal function and significant retinal morphological alterations. The homozygous knockin mice showed significantly reduced retinal thickness and ERG responses. This study not only broadens the spectrum of phenotypes associated with CEP250 mutations, but also, for the first time, elucidates the function of CEP250 in photoreceptors using a newly established animal model.     

牙周基础治疗后龈沟液中IL-6和TNF-α的变化

目的 :探讨牙周基础治疗对龈沟液中IL - 6和TNF -α水平的影响。方法 :选取成人牙周炎位点 87个 ,用夹心ELISA法进行龈沟液IL - 6和TNF -α水平的检测并记录相关临床指标 ,然后行牙周基础治疗。治疗后 6周再次检测观察牙的龈沟液IL - 6和TNF -α水平及相关临床指标 ,比较牙周基础治疗前后龈沟液中IL - 6、TNF -α及相关临床指标的差异。结果 :牙周基础治疗前后探诊深度 (PD)、附着丧失 (AL)及龈沟液中IL - 6、TNF -α水平都有显著性改变 (P <0 .0 5 ) ;龈沟液量、菌斑指数 (PLI)和改良龈沟出血指数 (mBI)有非常显著性改善 (P <0 .0 1)。结论 :牙周基础治疗在降低各项临床指标的同时对龈沟液中IL - 6和TNF -α水平也有明显影响 ,确实有控制牙龈炎症的作用     

Endoscope-assisted reduction of long-standing condylar dislocation

Endoscopy is widely used in the diagnosis and treatment of temporomandibular joint disorders. This paper introduces arthro-endoscopy as a new method of treatment for temporomandibular joint dislocation. As this method is minimally invasive, it is suitable for medically compromised patients who cannot tolerate open surgery.     

Expression of CD44s, CD44v5, CD44v6 and CD44v7-8 in betel quid chewing-associated oral premalignant lesions and squamous cell carcinomas in Taiwan

Aberrant expression of the cell surface adhesion molecule CD44 and its variant forms has been shown to be associated with the invasive and metastatic potential of cancer cells, and with poor prognosis in several types of cancers. Expression of CD44 standard (CD44s) and variant (CD44v) forms in oral squamous cell carcinoma (SCC), epithelial dysplasia (ED), epithelial hyperkeratosis (EH) and normal buccal mucosa (NBM) have been examined using antibodies to CD44s, CD44v5, CD44v6 and CD44v7-8. Positive CD44s, CD44v5, CD44v6 and CD44v7-8 staining was detected in all the specimens from NBM, EH and ED. Positive staining of CD44s, CD44v5, CD44v6 or CD44v7-8 was detected in 55 (88.7%), 48 (77.4%), 59 (95.2%) and 22 (35.5%) of the 62 SCC specimens, respectively. The positive staining of CD44v7-8 in oral SCC was significantly less than that in NBM ( P <0.01). No significant correlation was found between CD44v7-8 expression and daily or total consumption of betel quids or cigarettes by the SCC patients. The 5-year survival rate for patients with CD44v7-8-positive tumours was significantly higher than that for the CD44v7-8-negative group ( P <0.03). These results indicate that loss of CD44v7-8 expression may be a valuable factor for determining prognosis in oral SCC patients.     

Overnight-stay patients in a day surgery unit to overcome shortage of inpatient beds

A dedicated 23-h stay list was organised at the Addenbrooke's Hospital day surgery unit for elective cases in oral and maxillofacial surgery of minor or moderate severity that would normally be done as inpatients. The patients were selected by the two consultant oral and maxillofacial surgeons and the operations were done by a consultant surgeon (L.C.) and a consultant anaesthetist. Over a 14 month trial period 137 patients were admitted to our 23-h stay lists. One hundred and twenty seven of whom were operated on and stayed overnight, nine went home the same day, and one patient stayed beyond the 23-h limit as he was admitted to the medical ward after a grand mal seizure. The operations were for neoplastic, traumatic, salivary gland and jaw lesions. The reasons for using the overnight-stay facilities varied from social reasons to the need to monitor the airway. The fact that the theatre slots and overnight beds were guaranteed, and that the admissions were booked at outpatient consultation led to few cancellations by patients. This process reduced the inpatient waiting list and released the main operating theatre for major oral and maxillofacial operation, particularly for cancer.     

吻合旋股外侧血管髂骨移植在颌面部的应用

吻合血管髂骨移植是修复颌骨缺损的常用手术。作者应用吻合旋股外侧血管升支髂骨瓣移植修复颌面部骨缺损４例，证实以该血管为蒂的髂骨瓣的临床可行性。旋股外侧血管升支位置恒定、血管口径较粗，所形成的血管蒂较长，操作安全、方便。作者认为以该血管为蒂的髂骨移植是颌骨缺损修复的可供选择术式之一。本文对该髂骨瓣的血供、手术注意点等进行了讨论。     

产黑色素普氏菌DNA探针的制备及鉴定

本研究旨在应用DNA探针杂交技术快速检测产黑色素普氏菌、利用产黑色素普氏菌经酚抽取全染色体DNA，并以缺口转移法标记32P，制备探针。结果证实，该探针能够检测到膜上2×104的纯菌；当产黑色素普氏菌和中间普氏菌以不同比例混合点膜时，该探针能够检测到占混合菌群17％的目的菌；与口腔感染常见菌株杂交，未见交叉反应。     

复方甲硝唑缓释膜剂的研制及应用

本文研制了治疗牙周炎的复方甲硝唑缓释膜剂.为证实其对牙周病的治疗作用,进行了体外抑菌试验和临床应用.结果表明,该缓释膜剂对牙周病优势菌有明显抑制效果;经临床观察使用该药膜一周后,菌斑指数(PLI)、牙龈指数(GI)、龈沟出血指数(SBI)及牙周袋深度(PD)均显著降低,证明复方甲硝唑缓释膜剂治疗牙周病有广阔前景.     

Comparison of the retentive characteristics of cobalt-chromium and commercially pure titanium clasps using a novel method

This study aimed to compare the retentive forces of cast cobalt-chromium (Co-Cr) and commercially pure titanium (cpTi) clasps. A clasp assembly comprising a pair of symmetrical clasps was made to fit the opposite halves of a hardened stainless-steel sphere. This twin clasp was designed to counterbalance the tipping forces when the clasp assembly was drawn from the sphere. A total of 120 clasp assemblies were fabricated in cast Co-Cr and cpTi and placed at undercut depths of 0.25 mm, 0.50 mm, and 0.75 mm (n = 20 for each). For Co-Cr clasps, the retentive forces at these undercuts depths were 2.34 +/- 0.23 N, 4.65 +/- 0.35 N, and 7.56 +/- 0.50 N, respectively. The corresponding retentive forces for cpTi clasps were 1.24 +/- 0.13 N, 2.34 +/- 0.23 N, and 3.70 +/- 0.27 N. The retentive force of cpTi clasps was approximately half that of Co-Cr clasps for the same undercut depth.     

口腔粘膜良性淋巴组织增生症的临床病理和免疫组化分析

目的明确口腔粘膜良性淋巴组织增生症（BLOM）的临床病理特征及其本质。方法收集分析6例BLOM的临床病理资料，并进行文献复习；对该组病例的组织标本进行免疫组化研究。结果发生在唇部和其它口腔解剖部位的口腔粘膜良性淋巴组织增生症的临床表现和诊断各有其特点；B淋巴细胞是淋巴滤泡和浸润炎症细胞的主要细胞万分。结论BLOM分为唇型和非唇型两种临床类型；BLOM是一种B淋巴细胞介导的增殖性局部体液免疫反应疾病。