Neurofibromatosis type 1: a common familial cancer syndrome.
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Biomedical subjects
Publications and source records attributed to Song Han.
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Noise is one of the factors that induces critical stress in animals. The contents of glycogen, lactic acid and cholesterol in the liver of noise-stressed rats were analyzed in order to investigate the alleviation of noise-stress-induced physiological damages by traditional medicine using Astragali and Rhodiolae radices. More than 95 dB noise ranging from 2 to 4 kHz reduced the contents of these compounds in the liver of rats not injected with the extract of Astragali or Rhodiolae, but did not change the contents in the liver of rats injected with the Astragali or Rhodiolae extract. These results show that noise induced stress in the rats via a decrease in contents of these compounds in the liver and that Astragali or Rhodiolae maintained the contents of these compounds in the liver of the noise-stressed rats. The results indicate that Astragali or Rhodiolae improved the ability for rats to resist noise stress.
OBJECTIVE: To investigate the risk factors of road injury. METHODS: Case-control study was used. From November 2001 to August 2002, 406 drivers who had 438 drivers who had not experienced a motor vehicle crash in Huanggu district, Shenyang city were recruited by randomly selection on time of day, day of week and site in the same period at same district. Face to face interviews with drivers were conducted according to a highly structured questionnaire covering the circumstances of the current trip, usual behavior and background characteristics of the drivers and the condition of motor vehicles. Stanford sleepiness scale and Epworth sleepiness scale were used to quantify acute and chronic sleepiness respectively. RESULTS: Increased risk was associated with drivers who identified themselves as having chronic doziness (OR = 1.98, 95% CI: 1.26 - 3.12). Increase in risk was associated with measures of acute tiredness, but without statistical significance (OR = 2.38, 95% CI: 0.89 - 6.31). Comparing to permanent daytime work pattern, rotating shifts or permanent night-work pattern increased the risk of crash (OR = 2.09, 95% CI: 1.48 - 2.94). The risk of motor vehicle crash among the drivers who drank alcohol in the previous 6 hours was 3.59 times (95% CI: 1.13 - 11.39) of those drivers who did not drink. Driving violations also contributed to the increased risk of crash (OR = 1.73, 95% CI: 1.22 - 2.46). CONCLUSION: Factors as chronic doziness, rotating shifts or permanent night-work pattern, driving under alcohol impairment, violation of motor vehicle regulation all significantly increased the risk of road injury. Acute sleepiness might serve as a potential risk factor for road injury.
OBJECTIVE: To estimate the association of driver sleepiness with the risk of car crashes. METHODS: A population-based case-control study was conducted in Shenyang, a northeastern city in China, between November 2001 and July 2002. The case group comprised 406 car drivers involved in crashes, and 438 car drivers recruited at randomly selected sites, and on the day of week, and the time of day when they were driving on highways in the study region during the study period were used as control groups. Face-to-face interviews with drivers were conducted according to a well-structured questionnaire covering the circumstances of their current trip and their background information. Stanford sleepiness scale and Epworth sleepiness scale were used to quantify acute sleepiness and chronic sleepiness respectively. RESULTS: There was a strong association between chronic sleepiness and the risk of car crash. Significantly increased risk of crash was associated with drivers who identified themselves as sleepy (Epworth sleepiness score > or = 10 vs < 10; adjusted odds ratio 2.07, 95% confidence interval 1.30 to 3.29), but no increased risk was associated with measures of acute sleepiness. CONCLUSIONS: Chronic sleepiness in car drivers significantly increases the risk of car crash. Reductions in road traffic injuries may be achieved if fewer people drive when they are sleepy.
Three members of a Portuguese family, who exhibited clinical evidence of neurofibromatosis type 1 (NF1), were found to possess different heritable and pathological mutations in their NF1 genes: a 1.5-Mb deletion spanning the entire NF1 gene, a truncating CGA-->TGA transition in exon 22 (R1241X), and a frameshift mutation in exon 29 (5406insT). All three lesions occurred de novo and are likely to have been generated by different mutational mechanisms. At least two of the mutations occurred on different chromosomal backgrounds. The probability of finding three non-identical NF1 gene lesions arising de novo in a family with NF1 is very remote, too low to be readily accepted as mere coincidence. A number of possible explanations for this unique finding were therefore explored, but none were found to be wholly convincing. This report nevertheless serves as a reminder that it is unwise, even in the case of an autosomal dominant condition, to extrapolate from the detection of a single mutation in a specific individual to assuming an identical molecular genetic aetiology in other clinically affected members of the same family.
BACKGROUND: Molecular methods based on RNA amplification are needed for sensitive detection of enteroviruses in clinical samples. Many 'in house' methods based on reverse-transcribed PCR (RT-PCR) could be difficult to use in the routine diagnostic laboratory since they tend to be time-consuming, use reagents from many different suppliers and include non-routine procedures. OBJECTIVES: The aim of this study was to develop and evaluate methods based on nucleic acid sequence based amplification (NASBA) for detection of enterovirus sequences. STUDY DESIGN: 'In house' prepared and commercially available reagents were utilised to develop enterovirus-specific NASBA assays. Optimised methods were evaluated using clinical samples (cerebrospinal fluid, respiratory and stool samples), titred virus controls and in vitro produced synthetic RNA. Results for NASBA were compared with RT-PCR and virus culture. RESULTS: Kit-based reagents gave an equivalent sensitivity to the more laborious 'in house' molecular assays (NASBA and RT-PCR) on clinical material and controls. All molecular methods picked up enterovirus positive clinical samples that were not identified by culture. End point detection sensitivity for the NASBA assay based on the NucliSens Basic Kit was <or=1 tissue culture infective dose 50% of a range of enteroviruses or <100 copies RNA input. The assay was specific for enteroviruses and did not pick up high titre rhinovirus preparations. Enterovirus Basic Kit NASBA results for clinical samples were easily obtained within a single working day. CONCLUSIONS: NASBA is a suitable alternative to RT-PCR for sensitive amplification and detection of enterovirus sequences in a range of clinical specimens. The use of kit-based reagents will enable a wide range of laboratories to undertake molecular-based diagnostic procedures for RNA viruses and provide results within a time frame relevant to patient management.
Previous studies have shown that the level of total conventional protein kinase C (cPKC) membrane translocation (activation) was increased in the brain of hypoxic preconditioned mice. In order to find out which isoform of cPKC may participate in the development of cerebral hypoxic preconditioning (HPC), we used Western bolt and immunohistochemistry to observe the effects of repetitive hypoxic exposure (H1-H6, n = 6 for each group) on the level of cPKC isoform-specific protein expression and its membrane translocation in the cortex and hippocampus of mice. We found that the levels of cPKC betaII and gamma membrane translocation were increased significantly (p < 0.05 versus normoxic H0 group, n = 6) in response to repetitive hypoxic exposure (H1-H4) at an early phase of hypoxic preconditioning, but no significant changes of cPKC alpha and betaI membrane translocation were found during cPKC alpha, betaI, betaII and gamma protein expression both in hippocampus and cortex. In addition, an extensive subcellular redistribution of cPKC betaII and gamma was detected by immunohistochemistry staining in the cortex after repetitive hypoxic exposures (H3). However, a significant decrease in the expression of cPKC gamma protein (p < 0.05 versus H0 group) was found only in the cortex of delayed hypoxic preconditioned mice (H5-H6). These results suggest that the activation of cPKC betaII and gamma may be involved in the early phase of cerebral hypoxic preconditioning and the changes in cPKC gamma protein expression may participate in the development of the late phase of cerebral hypoxic preconditioning as well as selective vulnerability to hypoxia both in cortex and hippocampus.