Syndrome de hennekam

Hennekam syndrome is a disorder comprising intestinal lymphangiectasia, facial anomalies and moderate mental retardation. Eight cases have been previously reported

Case report

A 17-month-old girl was admitted to hospital for peripheral edema. On physical examination, she presented with a normal mental development. Facial anomalies were noted including a flat face, depressed and broad nasal bridge, puffy eye lids, mild down-slanting palpebral fissures, hypertelorism, epicanthat folds, bulbous nasal tip, small mouth, and low set ears. A simian line and haemangiomas on the arms, trunk and left limb were also noted. There was no organomegaty. Laboratory investigations showed iron deficiency anemia, hypoproteinemia, hypogammaglobulinemia and an elevated level of alpha-1 antitrypsin excreted in thefeces. Endoscopic investigation and the small bowel biopsy showed findings consistent with lymphangiectasia. The patient did well on 24 hour enterai nutrition including medium-chain triglyceride rich diet and infusion of human albumin.

Conclusion

We have aimed to remind that Hennekam syndrome should be included in differential diagnosis when intestinal lymphangiectasia are associated with facial anomalies.     

Comparison of mutagenesis by O6-methyl- and O6-ethylguanine and O4- methylthymine in Escherichia coli using double-stranded and gapped plasmids

To compare mutagenesis by O6-methylguanine (m6G), O4-methylthymine (m4T) and O6-ethylguanine (e6G), and assess their genotoxicity in Escherichia coli, double-stranded and gapped plasmids were constructed containing a single m6G, e6G or m4T in the initiation codon (ATG) of a lacZ' gene. Modified base induced mutations were scored by the loss of lacZ' activity on X-gal-containing media resulting in formation of white or sectored (mutant) rather than blue (non-mutant) colonies. Genotoxicity experiments with gapped plasmids containing the modified bases indicated that m4T produced a greater number of bacterial colonies than m6G or e6G. m4T was more mutagenic (45% mutant colonies) than m6G (6%) or e6G (11%) in repair competent (w.t.) E. coli when incorporated in double-stranded plasmids. In gapped plasmids, m4T produced 99% mutant colonies (as was observed previously for e6G) in both w.t. E. coli or E. coli deficient in both O6-alkylguanine-DNA alkyltransferases as well as methylation-directed mismatch repair (ada(- )-ogt(-)-mutS[-]). m6G in gapped plasmids produced 62% mutant colonies in w.t. E. coli, but this percentage increased to 94% in the ada(-)- ogt(-)-mutS(-) strain. In double-stranded plasmids both m4T and m6G produced very similar distributions of mutant and non-mutant colonies in the ada(-)-ogt(-)-mutS(-) strain. These observations led to the conclusion that differences in the mutagenicity of m6G and m4T in w.t. E. coli were a result of preferential repair of m6G compared to m4T by alkyltransferase and mismatch repair mechanisms, and did not reflect differences in their respective coding efficiency or their inherent obstructiveness to DNA synthesis as was observed with e6G. The combination of alkyltransferase and mismatch repair was concluded to be primarily responsible for the apparent genotoxicity of m6G compared to m4T in double-stranded plasmids.      

晚期胃癌中西医结合治疗的思路与体会

对晚期进展性胃癌,目前尚缺少确有成效的措施,手术、化疗、放疗虽为主要的治疗手段[1-4],但难以预防和控制其转移复发,一般手术后1 a～3 a内复发率极高,多发生远处脏器或腹腔淋巴结转移,甚至产生癌性腹水或全身广泛转移,文献报道Ⅲ～Ⅳ胃癌以姑息或根治术后五年生存率仅为11.3%～22%,为此,研究如何提高晚期胃癌临床疗效和远期生存率,减少或阻止癌肿复发,是目前医学领域中最迫切的临床研究课题.进一步深入探索提高疗效的途径、思路和方法,研究抗癌肿的战略、战术,抑制或消灭残余癌细胞复活繁殖,这是提高疗效的关键.作者根据文献报道与多年的临床实践,对晚期胃癌治疗必须采取内外科、中西医结合综合治疗,可显著提高疗效,但问题是在于中西医药如何在理论上结合、手术、化、放疗、免疫疗法与中医药又如何有机结合,而不是单纯的中西药物结合,而是要达到取长补短,增效减毒,发挥中西二法的共同优势,既能发挥药物的协同抗癌作用,又能提高和调动机体抗癌免疫功能和内在抗癌能力,这样方可达到理想的疗效.     

蕊木宁F对小鼠实验性肝损伤的保护作用

蕊木宁(kopsinine)F(K-F)系自云南蕊木提出的一种吲哚类生物碱。该成分对小鼠因注射CCl₄,硫代乙酰胺,TAA及扑热息痛引起的肝损伤有明显的保护作用,使血清谷丙转氨酶降低,肝脏病理损害减轻。该成分对CCl₄引起的肝微粒体脂质过氧化反应和¹⁴CCl₄与肝微粒体进行的共价结合亦有抑制作用。此外,K-F还能提高小鼠的肝微粒体细胞色素P-450活性。以上结果提示蕊木宁F对小鼠实验性肝损害有保护作用。     

Improved MR images of the brain with use of a gated, flow-compensated, variable-bandwidth pulse sequence

Peripheral gating and first-order flow compensation were compared for their ability to improve the quality of second-echo (echo time = 80 msec) brain images obtained with a T2-weighted spin-echo sequence. The contrast-to-noise ratios (C/Ns) for interfaces between brain and cerebrospinal fluid, gray and white matter, and lesion and white matter were measured; the C/N was highest for the combination of gating and flow compensation. This combination of motion compensation also reduced motion artifacts more than did either technique alone. Further improvement in C/N was sought by using a variable-bandwidth pulse sequence, which was compared to a conventional spin-echo sequence. The variable-bandwidth technique increased the C/N of the second-echo image by 27%. The combined use of gating, flow compensation, and the variable-bandwidth option produced high-resolution brain images with a single excitation and retained flexibility in number of sections, number of echoes, and echo times.     

The intensity of scattered radiation in mammography

The ratio of scattered-to-primary radiation has been measured for a range of x-ray tube voltages, field sizes and phantom thicknesses that typify clinical mammographic situations. The relative intensity of scattered radiation measured was essentially independent of kVp but increased as the phantom thickness and radiation field size increased. For the range of field sizes and phantom thicknesses that typify clinical situations the intensity of scattered radiation varied from about 40 to 85% of the primary beam intensity indicating that only from about 54 to 71% of the primary beam contrast is imaged in mammography.     

The interaction of proton pump inhibitors with cytochromes P450.

An understanding of the role of human cytochromes (CYPs) P450 in the metabolism of proton pump inhibitors (PPIs) is important in assuring the safety of these drugs. Species' differences in the metabolism of PPIs tend to overestimate the risk of some forms of toxicity in humans. Therefore, information on metabolism by human enzymes is essential for the prediction of drug interactions, or the lack of them. Although extrapolation from population mean data to the individual patient should be made with care, available data indicate that the use of PPIs, omeprazole, lansoprazole and particularly pantoprazole, should be relatively free of clinically-significant drug interactions. This finding may reflect the level of therapeutic dosages for PPIs, and their short elimination half-lives with respect to exposure to drug- metabolizing enzymes. Concern about low-grade induction of CYPIA- mediated procarcinogen metabolism suggests a need for vigilance on the long-term use of PPIs.