四氯偶氮苯在大鼠胆汁中的分泌和代谢

四氯偶氮苯（３,３’,４,４’ｔｅｔｒａｃｈｌｏｒｏａｚｏｂｅｎｚｅｎｅ,ＴＣＡＢ）和四氯氧化偶氮苯（３,３’,４,４’ｔｅｔｒａｃｈｌｏｒｏａｚｏｘｙｂｅｎｚｅｎｅ,ＴＣＡＯＢ）是在合成氯代或二氯代苯胺类除草剂时生成的污染废弃物。此类除草剂经...     

中年人颈动脉粥样硬化调查分析

目的:探讨中年人颈动脉粥样硬化发病特点.方法:对173例中年人进行体检及问卷资料分析.结果:61例40～55岁中年人经彩色多普勒超声诊断颈动脉粥样硬化.肥胖、血脂异常、吸烟、饮酒与颈部血管动脉粥样硬化的发生有一定关系.结论:40～55岁中年人颈动脉粥样硬化的发生率高,应列为重点人群关注.     

Comparison of mechanical and electrical activity and interstitial cells of Cajal in urinary bladders from wild-type and W/Wv mice

Background and purpose:

W/W^v and wild-type murine bladders were studied to determine whether the W/W^v phenotype, which causes a reduction in, but not abolition of, tyrosine kinase activity, is a useful tool to study the function of bladder interstitial cells of Cajal (ICC).

Experimental approach:

Immunohistochemistry, tension recordings and microelectrode recordings of membrane potential were performed on wild-type and mutant bladders.

Key results:

Wild-type and W/W^v detrusors contained c-Kit- and vimentin-immunopositive cells in comparable quantities, distribution and morphology. Electrical field stimulation evoked tetrodotoxin-sensitive contractions in wild-type and W/W^v detrusor strips. Atropine reduced wild-type responses by 50% whereas a 25% reduction occurred in W/W^v strips. The atropine-insensitive component was blocked by pyridoxal-5-phosphate-6-azophenyl-2′,4′-disulphonic acid in both tissue types. Wild-type and W/W^v detrusors had similar resting membrane potentials of −48 mV. Spontaneous electrical activity in both tissue types comprised action potentials and unitary potentials. Action potentials were nifedipine-sensitive whereas unitary potentials were not. Excitatory junction potentials were evoked by single pulses in both tissues. These were reduced by atropine in wild-type tissues but not in W/W^v preparations. The atropine-insensitive component was abolished by pyridoxal-5-phosphate-6-azophenyl-2′,4′-disulphonic acid in both preparations.

Conclusions and implications:

Bladders from W/W^v mice contain c-Kit- and vimentin-immunopositive ICC. There are similarities in the electrical and contractile properties of W/W^v and wild-type detrusors. However, significant differences were found in the pharmacology of the responses to neurogenic stimulation with an apparent up-regulation of the purinergic component. These findings indicate that the W/W^v strain may not be the best model to study ICC function in the bladder.     

护生人文能力现状及其培养

通过对人文素质教育的内涵和护生人文能力现状的分析，提出护生人文能力是其整体素质的重要方面，加强护生人文素质教育是社会发展的必然和需要，从而探讨加强护生人文能力培养的有效途径。     

Multiple organ failure due to 5-fluorouracil chemotherapy in a patient with a rare dihydropyrimidine dehydrogenase gene variant

BACKGROUND: Dihydropyrimidine dehydrogenase (DPD) is the initial and rate-limiting enzyme in the metabolism of the chemotherapeutic drug 5-fluorouracil (5-FU). Application of 5-FU is restricted by a narrow therapeutic index because of severe toxicity of WHO grades III-IV. The exon 14-skipping mutation (c.1905+1G>A) accounts for approximately a quarter of all severely toxic cases. However, numerous other polymorphisms have been identified within the DPYD gene in affected patients, and the pathophysiological significance of most of them is unclear. PATIENT AND METHODS: We report a patient with advanced caecum cancer who twice received 950 mg 5-FU and 45 mg folinic acid as adjuvant by bolus injection. 2 days after onset of chemotherapy, the patient developed a multiple organ dysfunction exhibiting a cardiogenic shock with severe left ventricular insufficiency, marked reduction of renal function, and beginning hepatic encephalopathy with somnolence, myoclonus, and a seizure. In order to investigate a possible defect within the DPYD gene direct sequencing of all 23 exons was carried out. RESULTS: Genotyping revealed a rare c.1601G>A polymorphism which causes a change in the protein sequence (S534N). Data regarding the clinical relevance are ambiguous. The polymorphism has been detected together with an intronic mutation and both polymorphisms have consistently been reported with reduced enzyme activity. CONCLUSION: The present case provides further evidence of an etiologic role of the c.1601G>A mutation for DPD deficiency and the occurrence of severe 5-FU-related toxicity and underlines the value of comprehensive pharmakogenetic diagnostics with respect to the dihydropyrimidine dehydrogenase.     

Prenatal diagnosis of a fetus with terminal deletion of chromosome 1 (q43) in first-trimester screening: is there a characteristic antenatal 1q deletion phenotype? A case report and review of the literature

The terminal deletion of chromosome 1q is a disease of rare incidence. It might be hereditary or caused by spontaneous changes within the chromosome. Phenotypic characteristics including typical facial appearance, microcephaly, psychomotor retardation and variable other anomalies are suggested to be based on the loss of macrochromosomal materials within the long arm of chromosome 1. The number of symptoms is related to the loss of genetic material. To date, only very few cases of terminal 1q deletion syndrome have been diagnosed in utero, mainly after 20 weeks of gestation. Here, we present a case of del(1q)syndrome in a first-trimester fetus. Besides other structural anomalies of the fetus, prenatal ultrasound at 13 weeks' gestation demonstrated severe microgenia and suspicion of cardiac defect. Chorionic villous sampling was performed, and cytogenetic analysis showed a de novo terminal chromosome 1 long arm deletion. We discuss the structural features of antenatally diagnosed fetuses with terminal deletion of chromosome 1 and try to give an answer to the question whether there is a characteristic antenatal 1q deletion phenotype.     

时辰药物治疗学研究状况

随着对一些疾病日节律性的研究加深,时辰药物治疗越来越受到重视。为此本文从高血压、肿瘤、哮喘等治疗药入手,对相关时辰药物治疗的情况作一综述。     

石蜡包埋淋巴组织三种微量DNA提取方法的比较

目的为寻找一种高效、简便、实用的石蜡组织中DNA提取方法，本研究比较了三种不同的DNA提取方法对DNA质量的影响。方法选取淋巴相关组织的蜡块21例。三种DNA提取方法分别是简单消化煮沸法，酚／氯仿提纯法和试剂盒法。通过提取DNA的浓度和纯度、PCR扩增保守序列pglobin等方法，比较三种DNA提取方法的优劣。结果试剂盒法提取样品OD260／OD280平均比值位于1．6～1．8之间；提纯法位于1．3—1．5之间；简单消化煮沸法位于1，2—1．3之间。三种方法中，试剂盒法提取的DNA最为稳定。以3种DNA提取方法所获取DNA为模板，PCR扩增阳性率无统计学差异。结论从实用、快速、经济的角度综合分析，简单消化煮沸法简单快速，需要的组织样品少，是一个值得推荐的石蜡组织DNA提取方法。     

A rapid microarray based whole genome analysis for detection of uniparental disomy

To date, uniparental disomy (UPD) with phenotypic relevance is described for different chromosomes and it is likely that additional as yet unidentified UPD phenotypes exist. Due to technical difficulties and limitations of time and resources, molecular analyses for UPD using microsatellite markers are only performed in cases with specific phenotypic features. In this study, we carried out a whole genome UPD screening based on a microarray genotyping technique. Six patients with the diagnosis of both complete or segmental UPD including Prader-Willi syndrome (PWS; matUPD15), Angelman syndrome (AS; patUPD15), Silver-Russell syndrome (SRS; matUPD7), Beckwith-Wiedemann syndrome (BWS; patUPD11p), pseudohypoparathyroidism (PHP; patUPD20q) and a rare chromosomal rearrangement (patUPD2p, matUPD2q), were genotyped using the GeneChip Human Mapping 10K Array. Our results demonstrate the presence of UPD in the patients with high efficiency and reveal clues about the mechanisms of UPD formation. We thus conclude that array based SNP genotyping is a fast, cost-effective, and reliable approach for whole genome UPD screening.