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.     

Prevention of surgical site infection by antibiotic spraying in the operative field during cardiac surgery

OBJECTIVE: Despite the many procedures introduced to prevent surgical site infection during cardiothoracic surgery, serious infections still occur. We attempted to reduce surgical site infection by spraying antibiotic solution in the operative field--a procedure since introduced at 4 other Japanese institutions. METHODS: In the latter half of 1990, we began spraying an antibiotic solution of cefazolin (1g) and gentamicin (40 mg)/40 ml of saline placed in a 50 ml syringe and dispensed through an 18 G needle bent at 60 to 80 degrees to clean the wound during surgery. RESULT: No deep surgical site infections or deaths due to infection have occurred among the 502 patients undergoing cardiothoracic surgery under cardiopulmonary bypass at our hospital. This method was used in over 2,100 cases of similar procedures at 4 other institutions. There were 3 deaths due to severe surgical site infection (0.11%). At one institution treating over 1,000 cases a year, the incidence of death due to surgical site infection decreased significantly after this method was introduced. CONCLUSION: These preliminary experiences show that spraying antibiotic solution in the operative field reduces the risk of surgical site infection in cardiothoracic surgery.     

LYMPHOCYTIC HYPOPHYSITIS: SPONTANEOUS RESOLUTION ON MRI WITH PROGRESSION OF ENDOCRINE DEFECT

Lymphocytic hypophysitis is an uncommon condition that typically occurs during the last trimester of pregnancy or in the postpartum period. Presentation is of an anterior pituitary mass with varying degrees of pituitary dysfunction. We present a case in which there was dramatic resolution of the pituitary lesion on sequential MRI scanning. Despite this apparent resolution, however, the patient continues to have significant pituitary dysfunction.     

超声微泡造影影像学及治疗作用的研究进展

包裹型气体微泡已经发展为临床应用的超声造影剂.微泡造影剂不仅已广泛用于血池和组织灌注显像,其治疗作用也日渐突显,例如溶栓和作为药物或基因的载体.造影剂微泡的平均直径小于红细胞直径,因而能够自由运行于微循环.微泡能将生物活性物质(例如药物或基因)结合在其内或其外膜表面,并将此物质转运于体内特定组织,例如将抗肿瘤药物转运并结合于特定肿瘤组织.靶向性微泡能将肽段等特定性配体结合于其微泡表面,这种特定性配体可特异性地与血管壁表达的受体相结合,微泡因而在靶组织区域积聚[1].     

Common bile duct calculi: updated experience with dissolution with methyl tertiary butyl ether

The authors describe their experience with methyl tertiary butyl ether (MTBE) in a larger series of patients than previously reported in order to acquaint physicians with both its effectiveness for dissolution of common bile duct calculi and the limitations of its use. Ten patients with 13 biliary calculi underwent percutaneous stone dissolution treatment with the experimental cholesterol solvent, MTBE. Three stones completely dissolved within 30 minutes, seven were reduced in size, and three were visibly unaffected. All stones not completely dissolved were easily extracted by means of a stone basket except for one in a patient taken to surgery. Although MTBE perfusion is an effective technique for management of biliary calculi, practitioners should be aware that its use is quite time consuming and its odor difficult to control.     

Multiple primary malignancies in patients with Merkel cell carcinoma1

Background Merkel cell carcinoma (MCC) is a rare malignant cutaneous tumour, the incidence of which is increasing. Second malignancies have been reported to occur with high incidence in these patients. Objectives We report the rate and nature of multiple malignancies in patients with MCC treated over a 10 year period in Addenbrooke’s Hospital in Cambridge, United Kingdom, as well as the temporal relationship of these additional malignancies to the diagnosis of MCC. Results The 27 patients had an approximately equal sex incidence with a median age at diagnosis of 79 years. Seventy percent (n=19) of patients had a second primary malignant tumour; and 7 of these patients had two or more tumours in addition to the MCC. Eighteen patients had additional cutaneous malignancies: melanoma, squamous cell carcinoma and basal cell carcinoma, and 8 patients presented non‐cutaneous malignancy including colorectal, haematological and breast tumours. Of the 28 additional tumours in our patients, half were diagnosed prior to presentation of MCC, 32% within 6 months of diagnosis, and 18% between 6 months and 3 years after diagnosis. Possible reasons for the high rate of additional tumours in this population are discussed. Conclusions Our figures reflect a higher incidence of multiple malignancies in those with Merkel cell tumour than has previously been reported. This has important implications for the care and surveillance of these patients.     

无牙颌颞下颌关节紊乱病患者总义齿修复前后咬合垂直距离改变与髁状突在关节凹内位置的关系

目的:观察咬合垂直距离改变对无牙颌颞下颌关节紊乱病患者两侧颞颌关节髁状突位置的影响。方法:于1994-01/1997-12选择本院口腔修复门诊收治的无牙颌患者中符合颞下颌关节紊乱病诊断标准,同时垂直距离减低的患者48例。实验方案经医院伦理委员会审批,患者均知情同意。将48例无牙颌颞下颌关节紊乱病患者根据垂直距离减低程度的不同分为3组:减低1.8～6.0mm组18例,减低6.1～10.0mm组20例,减低10.1￣14.0mm组10例。通过重新制作一副全口义齿的方法治疗,咬合垂直距离恢复在合适的范围内,3组全口义齿的咬合垂直距离恢复前分别平均为63.4,60.6,54.2mm,恢复后咬合垂直距离分别平均为67.8,68.4,66.4mm,平均抬高4.4,7.8,12.2mm。通过拍摄正中颌位时颞下颌关节薛氏位X射线片测量各组前、后、上关节间隙。结果:垂直距离恢复前,减低1.8～6.0mm组关节后间隙,减低6.1～10.0mm组关节前、后间隙、减低10.1￣14.0mm组关节上、后间隙左右侧相比较,差异有显著性意义(P<0.05)。垂直距离恢复后,3组关节间隙左右侧差异无显著性意义。结论:无牙颌咬合垂直距离减低后可以导致两侧髁状突位置发生不对称改变。     

The thoracic aorta studied by MR imaging

Thirty-three patients with a variety of disorders of the thoracic aorta (aneurysm, dissection, Marfan syndrome, coarctation/pseudocoarctation, L-transposition, and Takayasu disease) were evaluated with magnetic resonance (MR) imaging. MR imaging delineated the presence and extent of thoracic aortic aneurysms and showed the relationship of the aneurysm to arch vessels; it also demonstrated intimal flaps and individual lumina in types A and B aortic dissection. Dilation of the ascending aorta in Marfan syndrome and focal narrowing of the aorta in coarctation were well visualized. The anteroposterior and side-to-side relationships of the aorta and pulmonary artery in L-transposition were demonstrated, as were aortic wall thickening and branch vessel narrowing in Takayasu arteritis. Initial experience suggests that MR imaging may provide a noninvasive method for evaluating thoracic aortic disease. Limitations include inferior spatial resolution, occasional difficulty in imaging the entire region of interest in one section, lack of signal from calcifications, and inability to monitor critically ill patients.