Cardio-facio-cutaneous syndrome: Does genotype predict phenotype?

Cardio-facio-cutaneous (CFC) syndrome is a sporadic multiple congenital anomalies/mental retardation condition principally caused by mutations in BRAF, MEK1, and MEK2. Mutations in KRAS and SHOC2 lead to a phenotype with overlapping features. In approximately 10–30% of individuals with a clinical diagnosis of CFC, a mutation in one of these causative genes is not found. Cardinal features of CFC include congenital heart defects, a characteristic facial appearance, and ectodermal abnormalities. Additional features include failure to thrive with severe feeding problems, moderate to severe intellectual disability and short stature with relative macrocephaly. First described in 1986, more than 100 affected individuals are reported. Following the discovery of the causative genes, more information has emerged on the breadth of clinical features. Little, however, has been published on genotype–phenotype correlations. This clinical study of 186 children and young adults with mutation-proven CFC syndrome is the largest reported to date. BRAF mutations are documented in 140 individuals (approximately 75%), while 46 (approximately 25%) have a mutation in MEK 1 or MEK 2. The age range is 6 months to 32 years, the oldest individual being a female from the original report [Reynolds et al. (1986); Am J Med Genet 25:413–427]. While some clinical data on 136 are in the literature, 50 are not previously published. We provide new details of the breadth of phenotype and discuss the frequency of particular features in each genotypic group. Pulmonary stenosis is the only anomaly that demonstrates a statistically significant genotype–phenotype correlation, being more common in individuals with a BRAF mutation.     

Interactions between malaria workers and clinical malaria patients in Jepara District, Indonesia

In a one-year longitudinal study of all clinical malaria cases treated by the Village Malaria Workers (VMWs) during 1999-2000, data on health-seeking behavior during a seven-day illness period were collected using a diary; 24 interactions were audiotaped. The results showed that 87% of cases had been treated by the VMWs on day four of the illness period. On day two, the percentage not treated was significantly higher in male as compared with female cases (p = 0.01) and in those below 15 years of age as compared with those 15 years and older (p < 0.001). "Not doing anything" and "using VMWs only" were the two most common actions. Interactions between the VMWs and the patients focused on medical tasks, and low compliance with treatment was a common concern of the VMWs. The concept of preventive measures and the role of mosquitoes were lacking in the interactions.     

盐酸普鲁卡因经皮离子导入的研究

目的：考察盐酸普鲁卡因的离子导入与电流强度、药物浓度的关系。方法：测定不同的电流强度、不同的药物浓度的离子导入增渗倍数（ＥＲ）。结果：固定药物浓度,电流强度为０．１,０．２和０．３ｍＡ时的ＥＲ值分别为６８．９９和１２７。固定电流强度０．２ｍＡ,药物浓度为０．０１５１,０．０３０４和０．０６０５ｇ／１００ｍｌ时的ＥＲ值分别为９５,９９和９８,结论：离子导入可以显著提高药物渗透速率,增渗倍数（ＥＲ）随     

石斛类叶鞘的显微鉴定研究

商品石斛的植物来源复杂,规格繁多,外形鉴定较困难。为了准确鉴定石斛的品种,对常作为药用的16种石斛属(Dendrobium Sw)植物的叶鞘进行了显微观察,发现其表皮细胞的形状,大小,所含草酸钙结晶的形状、大小、分布等种间区别较明显,可作为鉴别石斛种类的科学依据之一。本文对金钗石斛D.nobile Lindl。等16种石斛的叶鞘表面特征加以描述,并附主要特征图和检索表。     

L -粘附素单抗在缺血再灌注损伤中的作用

目的中性粒细胞粘附在缺血再灌注损伤中有非常重要的作用.本文用SD大鼠趾长屈肌缺血再灌注损伤模型,观察L-粘附素单抗LAM1-116在缺血再灌注损伤中的作用.方法30只SD大鼠被均分为2组LAM1-116组和生理盐水对照组.每只大鼠的一侧趾长屈肌作为正常对照,另外一侧进行3 h缺血4 h再灌注.结果LAM1-116组实验侧的髓过氧化物酶为正常的2倍(2.3±2.2),生理盐水对照组则为正常的28倍(27.5±11.7)(P＜0.001);LAM1-116组的湿重比(1.10±0.10)、疲劳肌力(77.1%±12.1%)与对照组相比(分别为1.23±0.10和49.7%±9.3%)明显改善(P＜0.05);组织学上,LAM 1-116组的中性粒细胞局部浸润显著减少,水肿减轻.结论通过L-粘附索单克隆抗体LAM1-116阻断L-粘附素的功能,可以有效地降低中性粒细胞在再灌注肌肉中的浸润,防止组织水肿,从而改善肌肉的功能.