Opitz (BBB/G) syndrome: Oral manifestations

We studied a new case of the G (Opitz BBB/G) syndrome in a 12-year-old boy. Several relatives had partial manifestations of the disorder. A comprehensive dental evaluation of the propositus was conducted; included is, to our knowledge, the first published cephalometric analysis of a G syndrome patient. We reviewed 139 cases of the G syndrome; 48 of them had at least one oral abnormality. These included clefting, micrognathia, ankyloglossia, and high-arched palate. Male G syndrome patients are more likely to have oral anomalies than affected females. © 1992 Wiley-Liss, Inc.     

Are common mutations of cystathionine β-synthase involved in the aetiology of neural tube defects?

Mildly elevated maternal plasma homocysteine (Hcy) levels (hyperhomocysteinemia) have recently been observed in some neural tube defect (NTD) pregnancies. Plasma levels of Hcy are governed by both genetic and nutritional factors and the aetiology of NTDs is also known to have both genetic and nutritional components. We therefore examined the frequency of relatively common mutations in the enzyme cystathionine β-synthase (CBS), which is one of the main enzymes that controls Hcy levels, in the NTD population. Neither the severely dysfunctional G307S CBS allele nor the recently reported 68 bp insertion/I278T CBS allele was observed at increased frequency in the cases relative to controls. We therefore conclude that loss of function CBS alleles do not account for a significant proportion of NTDs in Ireland.     

左双腔支气管导管管端位置与吸气峰压变化的关系

目的 观测无隆突钩双腔支气管导管(DLT)管端位置与吸气峰压(Ppeak)以及肺顺应性环形状改变的关系，探讨用Ppeak和顺应性环的变化评估DLT管端位置的可行性。方法 拟行右侧剖胸手术的成年患者32例，静脉诱导后插入左Mallinckrodt DLT，吸入氧化亚氮和地氟醚维持麻醉。按纤维支气管镜(FOB)确认DLT管端位置和通气方式将观测过程分为四个阶段：第一阶段(S1)，管端位置正确的双肺通气；第二阶段(S2)，管端位置正确的左侧单肺通气；第三阶段(S3)，管端插入左下支气管(置管过深)的左侧单肺通气；第四阶段(S。)，管端处在左支气管开口(置管偏浅)的左侧单肺通气。每阶段均机械通气15min。结果 回归方程预计插管深度与FOB检查符合者占71．9％。S2时Ppeak值比S1时增加50．8％，肺顺应性(Cdyn)值减少36．2％；S3时Ppeak值比S1时增加87．4％，Cdyn值减少56．8％。PV环曲线斜率向右明显移位，环体显著延长。结论 用无隆突钩DLT行肺隔离，在无FOB定位的条件时，联合应用听诊法、回归方程预计插管深度、动态监测气道峰压和P-V环的变化综合评估，可提高DLT管端的正确到位率。单肺通气的气道峰压超过双肺通气时的1．65倍，且气道峰压超过25cm H2O．应高度怀疑DLT管端发生过深移位。     

Sphingolipid metabolites in neural signalling and function

Sphingolipid metabolites, such as ceramide, sphingosine, sphingosine-1-phosphate (S1P) and complex sphingolipids (gangliosides), are recognized as molecules capable of regulating a variety of cellular processes. The role of sphingolipid metabolites has been studied mainly in non-neuronal tissues. These studies have underscored their importance as signals transducers, involved in control of proliferation, survival, differentiation and apoptosis. In this review, we will focus on studies performed over the last years in the nervous system, discussing the recent developments and the current perspectives in sphingolipid metabolism and functions.     

PRENATAL DIAGNOSIS Ⅰ. EARLY DIAGNOSIS OF OPEN NEURAL TUBE DEFECTS BY QUALITATIVE ACETYLCHOLINESTERASE ISOENZYME IN AMNIOTIC FLUID

The measurement of amniotic fluid (AF) acetylcholinesterase isoenzyme (AChEI) is a relatively new method for early diagnosis of open neural tube defects (NTDs). As quantitative methods are of unproven reliability at present, the authors used a high resolving power qualitative method-vertical slab polyaerylamide gel electrophoresis. The benefits of this technique are: simplicity of operation, accuracy, unsophisticated equipment, and easily available reagents. Combined results of 9 NTDs studies revealed that samples from early pregnancy gave more accurate results than those from late pregnancy.     

Safe anesthesia for endoscopic laryngeal laser surgery

Anesthesia safety for endoscopic laryngeal laser surgery has been a major limiting factor for laser applications in the larynx and the hypopharynx. Several anesthesia techniques have been proposed and each technique appears to have its own limitations. This paper will deal with the distinct advantages offered by the malleable copper tube which is used for delivery of the open Venturi system anesthesia for endoscopic laser surgery. A retrospective study of 100 patients who have undergone this modality of anesthesia at our institution will be presented. Our conclusion from this study shows clearly the superiority of the copper tube over the conventional aluminium-foil-wrapped endotracheal tube in safety and the exposure of the larynx during surgery.     

干细胞经脑脊液移植后在损伤脊髓的早期变化观察

目的观察神经干细胞经脑室注射后在损伤脊髓的早期动态变化。方法取转录有绿色荧光蛋白（GFP）基因的孕16天SD鼠胚脑海马组织，培养成神经干细胞球，注射到损伤脊髓鼠第四脑室（实验组），观察其在脊髓的存活、分化状况。结果移植细胞在脊髓表面形成细胞团。分布于损伤区头侧。细胞团的面积背侧小于腹侧；数目背侧多于腹侧。这种分布和增殖形式见于损伤脊髓正常部分和无损伤脊髓（对照组）。1周时细胞侵入损伤区，GFAP表达呈阳性。2～3周时与宿主细胞良好整合。结论移植细胞通过脑脊液能广泛分布于脊髓表面。保持黏附、增殖和分化能力。并可迁移、整合到损伤脊髓组织中。     

完全性房室间隔缺损的外科治疗

目的回顾性总结手术治疗完全性房室间隔缺损的经验。方法112例病儿,≤6个月43例(38%,X组),>6个月69例(62%,Y组)。85例行心导管检查。Rastelli A型89例,Rastelli B型10例,Ras- telli C型13例。手术技术分单片法,双片法和简化单片法。术中经食管超声检查发现异常而即刻再次手术者7例(二尖瓣反流4例,二尖瓣狭窄2例,左室流出道梗阻1例)。术后入重症监护室,左房压8～21 mm Hg,中心静脉压7～12mm Hg。呼吸机平均应用47h,监护室平均滞留6.3d。结果室间隔缺损残余分流(直径>2mm)13例,二尖瓣中度反流12例,完全性房室传导阻滞4例。院内死亡6例(X组1例,Y组5例)。术后随访91例(81%),随访1～5年,平均2.3年。1例术后1年因肺炎心衰死亡,1例术后2年因二尖瓣中-重度反流而换瓣。结论院内死亡率提示,小于6月龄完全性房室间隔缺损病婴手术是安全的。随着年龄增大,瓣膜成形效果、肺动脉高压的预后可能会更差。双片法修补室间隔缺损较易发生残余漏(9例,18%),简化单片法出院时二尖瓣关闭不全发生率明显高于另外两种方法(6例,16%)。     

Arthroscopic Shoulder Stabilization: Is There Ever a Need to Open?

Recent studies show comparable results of arthroscopic shoulder stabilization techniques compared with the gold standard open Bankart reconstruction. Great technical advances and ever-increasing surgeon experience have rendered pathology once deemed an indication for open surgery as treatable by arthroscopic means. With this movement toward a more universal application of all-arthroscopic techniques, we might consider the following question: Is there ever a need to open? To answer this question, we must first consider normal anatomy and then appreciate the contribution of deranged pathoanatomy to recurrent instability in each individual case. The surgeon must then determine whether this is best addressed via an arthroscopic or open technique. Arthroscopy, as compared with open stabilization procedures, holds the potential benefits of decreased morbidity rates, early functional rehabilitation, and improved range of motion. Despite potential advantages, arthroscopic stabilization is clearly contraindicated when a significant pathologic lesion contributing to recurrent instability cannot be adequately addressed as a result of the limitations of current techniques or instrumentation. On the basis of this principle, we believe that sizable glenohumeral bone defects remain the only absolute contraindication to an all-arthroscopic approach. Many complicating issues, such as attenuated capsule, humeral avulsion of the glenohumeral ligament lesions, cases of revision surgery, and collision or contact athletes, exist and warrant close attention. We prefer to think of these situations as “challenges” for which both arthroscopic and open surgery should be considered, rather than as true contraindications to arthroscopic shoulder stabilization. We are, by no means, advocating arthroscopic treatment in all cases of shoulder instability, because this would represent a gross oversimplification of the issues at hand. However, we do acknowledge that the steadfast contraindications to arthroscopic shoulder stabilization are decreasing every day.