Prenatal exclusion of Leigh syndrome due to T8993C mutation in the mitochondrial DNA

Leigh syndrome (LS) is a mitochondrial encephalopathy that is caused by a mutation either in the mitochondrial DNA (mtDNA) or in the nuclear encoded genes of the mitochondrial proteins. Prenatal diagnosis of defects in the mtDNA is usually problematic because of mtDNA heteroplasmy and tissue specificity. However, the mutations T8993 G/C in the ATP synthase subunit 6 gene of the mtDNA show a more even tissue distribution and do not appear to change significantly over time. There are only few reports of prenatal diagnosis of the T8993G mutation in Leigh disease. Here we describe the first prenatal genetic testing of T8993C in a fetus of a mother whose previous child had died of Leigh syndrome due to the T8993C mutation. Mutant load in the chorionic villus sample (CVS) as well as in amniocytes was undetectable, thus predicting a very high likelihood of an unaffected outcome, indicative of a healthy baby. The diagnosis was confirmed after birth. Gathering data on the prenatal diagnosis of mtDNA mutations is of great importance so that prenatal diagnosis of both T8993G and T8993C mutations can be offered routinely. Copyright © 2002 John Wiley & Sons, Ltd.     

Deriving heart rate variability indices from cardiac monitoring—An indicator of driver sleepiness

Objective: Driver fatigue is considered to be a major contributor to road traffic crashes. Cardiac monitoring and heart rate variability (HRV) analysis is a candidate method for early and accurate detection of driver sleepiness. This study has 2 objectives: to evaluate the (1) suitability of different preprocessing strategies for detecting and removing outlier heartbeats and spectral transformation of HRV signals and their impact of driver sleepiness assessment and (2) relation between common HRV indices and subjective sleepiness reported by a large number of drivers in real driving situations, for the first time.

Methods: The study analyzed >3,500 5-min driving epochs from 76 drivers on a public motorway in Sweden. The electrocardiograph (ECG) data were recorded in 3 studies designed to evaluate the physiological differences between awake and sleepy drivers. The drivers reported their perceived level of sleepiness according to the Karolinska Sleepiness Scale (KSS) every 5?min. Two standard methods were used for identifying outlier heartbeats: (1) percentage change (PC), where outliers were defined as interbeat intervals deviating >30% from the mean of the four previous intervals and (2) standard deviation (SD), where outliers were defined as interbeat interval deviating >4 SD from the mean interval duration in the current epoch. Three standard methods were used for spectral transformation, which is needed for deriving HRV indices in the frequency domain: (1) Fourier transform; (2) autoregressive model; and (3) Lomb-Scargle periodogram. Different preprocessing strategies were compared regarding their impact on derivation of common HRV indices and their relation to KSS data distribution, using box plots and statistical tests such as analysis of variance (ANOVA) and Student’s t test.

Results: The ability of HRV indices to discriminate between alert and sleepy drivers does not differ significantly depending on which outlier detection and spectral transformation methods are used. As expected, with increasing sleepiness, the heart rate decreased, whereas heart rate variability overall increased. Furthermore, HRV parameters representing the parasympathetic branch of the autonomous nervous system increased. An unexpected finding was that parameters representing the sympathetic branch of the autonomous nervous system also increased with increasing KSS level. We hypothesize that this increment was due to stress induced by trying to avoid an incident, because the drivers were in real driving situations.

Conclusions: The association of HRV indices to KSS did not depend on the preprocessing strategy. No preprocessing method showed superiority for HRV association to driver sleepiness. This was also true for combinations of methods for frequency domain HRV indices. The results prove clear relationships between HRV indices and perceived sleepiness. Thus, HRV analysis shows promise for driver sleepiness detection.     

Complexity of seminal fluid: a review

The seminal fluid is a complex medium containing a great variety of molecules, mainly produced by sex accessory glands, and also cells other than spermatozoa (e.g. leucocytes). In this paper, I review current knowledge on composition of seminal fluid in both vertebrates (mainly mammals) and invertebrates (mainly insects) with internal fertilisation, in the light of possible benefits of seminal fluid components to males (e.g. sperm capacitation, sperm competition and fertilisation), possible costs to males (e.g. autoimmunity, antigenic effects), potential benefits to females being inseminated (e.g. food, immunostimulation and antibiotic effects) and potential costs to females (e.g. transmission of venereal diseases). The diversity of microorganismal, cellular and molecular components of seminal fluids can be interpreted in the light of emergence of co-adapted complexes, host–parasite coevolution, male–female arms races, sperm competition, pleiotropy and redundancy of function.     

Lifting technique and abdominal belt usage: a biomechanical, physiological and subjective investigation

Some 10 male subjects carried out a repetitive lifting task for 15 min under four conditions on separate days. Subjects used either a squat lifting or a stoop lifting technique with or without an abdominal belt on each day. Measurements of spinal shrinkage, heart rate, perceived exertion and regional body pain were made under each condition. Although there was a significant difference in spinal shrinkage under all lifting conditions compared with shrinkage during 15 min of quiet standing (4.36 ± 2.24 vs. 1.13 ± 1.18 mm), there were no significant differences in shrinkage between the conditions. The subjects' heart rates were higher during the squat lift than the stoop lift (123 vs. 97 beats/min; p < 0.001). While the squat lift was perceived to be the safest lift by 90% of the subjects, 60% regarded this lift as the least preferred method (with or without the belt). Although all 10 subjects perceived the safest lifting method to involve the use of the belt, 50% rated the belt as their least preferred lifting condition. The findings cast doubt on the efficacy and acceptability of both abdominal belts and the practice of training workers in ‘safe’ lifting techniques and indicate that individual characteristics and preferences need to be considered when attempting to improve the safety of manual handling operations in industry.     

环境条件对遵义市呼吸系统疾病的影响及预测研究

为探究气象和空气污染等环境条件对呼吸系统疾病发病的影响,为遵义地区相关疾病预防提供科学依据,采用分布滞后非线性模型和广义线性、相加模型,利用当地气象和污染资料,分析了2012~2016年遵义市气象环境要素对呼吸系统疾病发病的影响.结果显示,遵义市呼吸系统疾病发病状况与当地长期气候状态基本保持一致,气候效应对其的影响占主导作用,其中,冬季为呼吸系统疾病高发期,立秋至处暑前后其发病人数最少,表明此时间段内当地气候条件对呼吸系统疾病患者有气候疗养效应.气温对呼吸系统疾病发病的影响以低温滞后效应为主,在其敏感阈值附近气温每变化1℃,发病人数将累积增加31.6%（95% CI：4.4%~65.8%）;气压以高压滞后效应为主,相对湿度则在低湿部分同时有即时和滞后效应.舒适度对呼吸系统疾病的影响,在冷、热斜胁迫下其发病人数明显多于舒适状况时.PM_2.5、SO₂和NO₂三种污染物的影响都以即时效应为主,而CO则在累积滞后lag04时相对危险度最高,PM_2.5与呼吸系统疾病发病人数的暴露-反应曲线呈单调线性分布,SO₂、NO₂和CO均为“J”型分布.低温与高浓度NO₂或者低湿与高浓度SO₂的协同作用对呼吸系统疾病的影响较大.建立的全年和季节多元逐步回归方程的试预报准确率在75%以上（夏季除外）,其中分季节建模预测效果显著优于全年预测效果.     

沈阳市PM2.5离子成分对呼吸疾病门诊数影响研究

采用时间序列的半参数广义相加模型,在控制了长期趋势、"星期几效应"和气象因素等混杂因素的基础上,分析沈阳市大气污染物及PM_2.5中水溶性离子对呼吸系统疾病门诊就诊人数的影响,并按性别和年龄分层建模.结果表明：PM_2.5及其各离子成分与呼吸系统疾病门诊人数之间存在关联,并有明显的滞后效应.受冬季供暖燃煤排放影响,PM_2.5、NO₃^-和NH₄⁺呈显著关联,在滞后累积2d后风险最大.最佳滞后时间下,PM_2.5的浓度每增加10µg/m³,对应呼吸系统疾病日门诊就诊人数增加百分比（ER）为1.31%（95% CI：1.2%~1.43%）;离子成分SO₄^2-、NO₃^-、NH₄⁺、Cl^-、K⁺、Mg²⁺、Ca²⁺和Na⁺的浓度每增加1个4分位间距（IQR）,对应的呼吸系统疾病日门诊就诊人数增加百分比（ER）分别为3.22%（95% CI：2.81%~3.62%）、4.67%（95% CI：4.13%~5.22%）、5.41%（95% CI：4.49%~6.33%）、7.38%（95% CI：3.91%~10.96%）、0.14%（95% CI：-6.34%~7.07%）、7.64%（95% CI：-11.87%~31.47%）、3.57%（95% CI：-2.83%~10.39%）和0.46%（95% CI：-16.64%~21.06%）.PM_2.5、Cl^-、Mg²⁺、Ca²⁺和Na⁺对女性呼吸疾病门诊人数的影响比对男性的影响大.PM_2.5、SO₄^2-、Cl^-、Ca²⁺和Na⁺对≥65岁的老人门诊人数的影响比对15~65岁劳动年龄人群的影响大.表明不同性别、不同年龄由于生理结构和环境因素的不同而引起的差异不同.     

The toxicological paradigms of aluminum and the etiology of Alzheimer's disease in the nematode Caenorhabditis elegans

This study examined behavioral and enzymatic changes of C. elegans from its exposure to aluminum, and the resulting relationship with Alzheimer's disease. After chronic and acute exposure to aluminum, the results indicated that it alters the cholinergic status and behavior parameters of the nematode, suggesting a relationship between exposure to aluminum and the etiology of AD.     

纺织企业噪声职业危害风险评价及降噪措施

噪声是纺织业的主要职业危害之一。纺织企业生产车间的噪声不仅会影响到纺织生产的效率、工人的工作能力及安全,还会对纺织工人的健康造成危害,甚至导致职业病。以南方某纺织企业为研究对象,对其生产车间的噪声进行了调查测量,并采用职业病作业危害、职业接触风险评估二种评价方法,对该企业各生产工序的噪声职业危害进行风险评价,得出评价结论,从声源、声传播途径、个体防护及管理制度四个方面提出了降噪措施,以便更好地加强防治,预防减少噪声职业危害。     

北京市空气污染物对呼吸系统疾病门诊人数的影响

为评价北京市大气污染对居民呼吸系统疾病门诊人数的影响,采用时间序列半参广义相加模型(GAM),在控制了长期趋势、“星期几效应”及气象因素的影响后,分析2009~2011年北京市空气污染物与呼吸系统疾病门诊人数的暴露-反应关系,并按性别和年龄层建立模型.结果表明,3种污染物有一定的滞后效应,PM10在滞后0~3d(avg03)或0~5d(avg05)的移动平均值,SO2和NO2均在滞后0~2d(avg02)的移动平均值使呼吸系统疾病门诊人数的增加百分比(PI%)值达到最大,其中PM10、SO2和NO2浓度每增加10μg/m3,对应的呼吸系统疾病全人群的PI%分别为1.72%、1.34%和2.57%.年龄365岁的老年人群对北京市空气污染物最为敏感,其次为年龄￡14岁的人群;空气污染对女性的影响较男性明显.