Prenatal diagnosis of Pallister–Killian syndrome: Resolution of cytogenetic ambiguity by use of fluorescent in situ hybridization

We report a case of Pallister-Killian syndrome initially diagnosed prenatally as tetrasomy 21. A 33-year-old primiparous woman was noted at 24 weeks' gestation to have moderate polyhydramnios. Ultrasonography showed diminished fetal stomach filling, hydronephrosis, and prominence of the cisterna magna. Cytogenetic analysis of cultured amniocytes was initially interpreted as mosaic tetrasomy 21: 46,XX/47,XX,+i(21q). The patient was then referred to our centre for genetic counselling. At 34 weeks' gestation, a dysmorphic infant was delivered and died within 30 min. Physical features were consistent with the Pallister-Killian syndrome. Renal, gastrointestinal, and central nervous system anomalies were found at post-mortem examination. Analysis of peripheral lymphocytes revealed 5 per cent of cells with a marker chromosome, while 92 per cent of cultured fibroblasts had this same marker. Fluorescent in situ hybridization (FISH) using an alpha-satellite probe for chromosomes 13 and 21 failed to hybridize to the marker, while a chromosome 12 centromeric probe unequivocally identified it as an i(12p). Use of FISH can provide rapid, specific prenatal diagnosis of ambiguous marker chromosomes and improve prenatal counselling.     

全国2018~2019年秋冬季气象条件变化对PM2.5影响研究

本文基于WRF-CMAQ模型定量分析了气象条件变化对PM_2.5的影响.全国337个城市2018~2019秋冬季气象条件转差导致PM_2.5平均浓度同比上升约5.55%.24个省市气象条件同比转差，北京气象转差致使PM_2.5同比上升约3.66%.从重点区域来看，京津冀及周边“2+26”城市气象条件转差最显著，汾渭平原次之，长江三角洲（以下称长三角）基本持平，分别导致PM_2.5浓度同比上升约9.4%、8.3%、1.1%.“2+26”城市和汾渭平原气象条件在11月、1月、2月转差，10月、3月气象条件转好.长三角则10月、11月、3月气象条件转差；12月、1月、2月转好.“2+26”城市2018~2019秋冬季PM_2.5浓度同比上升主要为气象条件转差所致；汾渭平原PM_2.5同比变化较小，人为减排有效抵消了气象条件转差带来的不利影响；长三角PM_2.5浓度同比下降，与气象条件变幅小且污染排放较去年同期降低有关.     

黄淮海地区冬小麦光温生产潜力数值模拟研究

建立了一个冬小麦光温生产潜力数值模式,该模式可以模拟瞬时光合作用并充分考虑了冬小麦叶片空间分布特征。研究结果表明,北京地区冬小麦光温生产潜力与抽穗前１０天至成熟期辐射量相关性最大,年际之间存在４年和９～１０年的变化周期。黄淮海地区冬小麦光温生产潜力变幅在９０００～１０９５０ｋｇ／ｈｍ^２之间,其中河北石家庄地区和山东胶东半岛为两个高值区,超过１０５００ｋｇ／ｈｍ^２。模拟结果与当前黄淮海地区冬小麦高产实践结论具有较好的一致性,可为该地区作物高产提供一定的理论指导     

Meckel–Gruber syndrome: Ultrasonographic diagnosis at 13 weeks' gestational age in an at-risk case

A case of early diagnosis at 13 weeks' gestational age of Meckel–Gruber syndrome by ultrasound is reported in a patient with a 25 percent recurrence risk. The usefulness of genetic counselling and aimed echographic examination is discussed.     

Bicycle helmet effectiveness is not overstated

Objective: The objective of this study was to discuss the challenges in estimating bicycle helmet effectiveness from case–control studies of injured cyclists and to estimate helmet effectiveness from cases and available exposure data.

Methods: Data were extracted from studies of cyclists in Seattle; Victoria and New South Wales, Australia; and The Netherlands. Estimates of helmet use were used as exposure to compute relative risks for Seattle and Victorian data. Cycling distance data are routinely collected in The Netherlands; however, these data cannot be disaggregated by helmet use, which makes it unsuitable for estimating helmet effectiveness. Alternative controls were identified from larger cohorts for the Seattle and New South Wales cases.

Results: Estimates of helmet effectiveness were similar from odds ratios (ORs) using hospital controls or from relative risks (RRs) using helmet use estimates (Seattle: OR = 0.339, RR = 0.444; Victoria: OR = 0.500, RR = 0.353). Additionally, the odds ratios using hospital controls were similar when controls were taken from a larger cohort for head injury of any severity (Seattle: OR = 0.250, alt OR = 0.257; NSW: OR = 0.446, alt OR = 0.411) and for serious head injury (Seattle: OR = 0.135, alt OR = 0.139; NSW: OR = 0.335, alt OR = 0.308). Although relevant exposure data were unavailable for The Netherlands, the odds ratio for helmet effectiveness of those using racing, mountain, or hybrid bikes was similar to other estimates (OR = 0.371).

Conclusions: Despite potential weaknesses with case–control study designs, the best available evidence suggests that helmet use is an effective measure of reducing cycling head injury.     

Road accident fatality risks for “vulnerable” versus “protected” road users in northern Ghana

Background: Road traffic injuries (RTIs) are a serious epidemic that claims more than a million lives across the globe each year. The burden of RTIs is particularly pronounced in Africa and other low- and middle-income countries. The unfavorable disparity of the burden of road trauma in the world is largely attributable to unsafe vehicles, lack of appropriate road infrastructure, and the predominance of vulnerable road users (VRUs) in developing countries. However, little research exists in northern Ghana to highlight the scale and risk of death among road users.

Objective: The objective of this research was to establish the relative risk of death among road users in northern Ghana.

Methods: Crash data from police reports between 2007 and 2011 were analyzed for the Upper Regions of Ghana. Conditional probabilities and multivariable logistic regression techniques were used to report proportions and adjusted odds ratios (AORs), respectively.

Results: Generally, crashes in northern Ghana were extremely severe; that is, 35% of all injury related collisions were fatal. The proportion of fatal casualties ranged between 21% among victims of sideswipe collisions and 41% among pedestrians and victims of rear-end collisions. Though males were 6 times more likely to die than females overall, females were more likely to die as pedestrians (90% of all female casualty deaths) and males were more likely to die as riders/drivers (78% of all male casualty deaths). Pedestrians were 3 times more likely to die (odds ratio [OR] = 3.1; 95% confidence interval [CI], 2.4 to 4.1) compared with drivers/riders. Compared with drivers, the odds of death among cyclists was about 4 times higher (AOR = 3.6; 95% CI, 2.3 to 5.6) and about 2 times higher among motorcyclists (AOR = 1.6; 95% CI, 1.2 to 2.2). Compared with casualties aged between 30 and 59 years, children under 10 years and those aged 60 years and above were independently 2 times more likely to die in traffic collisions.

Conclusion: Provision of requisite road infrastructure is vital for the safety of VRUs in northern Ghana. Cycle paths and lanes (for cyclists) as well as sidewalks (for pedestrians) in particular will separate VRUs from motorists and improve their safety. Enforcement of traffic laws particularly regarding helmet use, speeding, and alcohol use will be beneficial. Introduction of the demerit points system in the enforcement of traffic regulations may have significant deterrent effects on road users who have the penchant for violating traffic regulations. Road safety education is also required to create responsible road users.     

十堰市城区冬季PM2.5污染特征与来源解析

为探讨内陆山区城市湖北省十堰市冬季PM_2.5污染特征及来源构成,于2016年1月12日—2月4日在4个采样点位同步采集PM_2.5样品,分析了无机元素、水溶性离子、有机碳和元素碳的质量浓度.并采集了十堰市主城区城市扬尘、裸露山体尘、建筑水泥尘、燃煤源、机动车尾气、工业源及餐饮油烟源等7类污染源,初步建立十堰市本地的污染源成分谱库,利用统计学方法研究冬季PM_2.5的污染特征,并采用CMB受体模型及“二重源解析技术”分析其来源构成.结果表明:冬季采样期间,十堰市ρ（PM_2.5）平均值达到110.65 μg/m3,超过GB 3095—2012《环境空气质量标准》二级标准24 h浓度限值,并且随空气RH（相对湿度）增加污染加重.城区3个采样点PM_2.5化学组成及特征的空间差异不明显.PM_2.5中ρ（TC）最高,其次是ρ（NO₃-）和ρ（SO₄2-）,与二次反应、机动车尾气、煤燃烧等密切相关.ρ（NO₃-）/ρ（SO₄2-）为1.22,说明机动车尾气的影响较大.二次粒子、燃煤源和机动车尾气是十堰市城区冬季大气PM_2.5的主要来源,贡献率分别为51.2%、10.9%和10.1%.研究显示,十堰市城区冬季ρ（PM_2.5）超过GB 3095—2012二级标准,PM_2.5的污染控制应以二次粒子、燃煤和机动车为主,采取多源控制原则.      

中国冬小麦麦收期连阴雨灾害风险评价

论文基于中国839个国家气象站点逐日降水观测数据和778个农业气象站点农作物生长发育数据,提取并统计了中国冬麦区265个国家气象站点麦收期连阴雨频率、最长连阴雨日数和最大过程雨量。通过构建“灾害胁迫-暴露-适应”的麦收期连阴雨灾害风险评价体系,采用熵权灰色关联分析法对2014年中国166个地级市冬小麦麦收期连阴雨的灾害风险进行评价。在此基础上,针对不同灾害风险主导因子进行风险防范分区。结果表明：1）空间分布上连阴雨灾害胁迫的带状递减特征明显,秦岭—淮河以南地区的灾害胁迫等级整体高于秦岭—淮河以北地区;灾害暴露和适应等级呈现出高低交错的空间分布特征。其中,华北西部、黄淮西部和西南地区东南部的暴露等级相对较高,适应能力相对较强的地区主要分布在省会城市、直辖市及其周边区域。2）处于麦收期连阴雨灾害中等以上风险的区域占冬小麦播种地市的73%,2 226.23万hm²的冬小麦处于麦收期连阴雨的胁迫中。3）中国冬小麦麦收期连阴雨灾害风险热点区域以灾害胁迫-适应主导和适应能力主导为主,加强灾害监测预警及提升区域适应能力是降低冬小麦麦收期连阴雨风险的有效途径。     

‘It's off to work we go!’ Person–environment fit and turnover intentions in managerial and administrative mining personnel

Purpose. Person–environment fit asserts that incompatibility between an employee and aspects of their work environment is more likely to lead to occupational stress. The aim of this study was to investigate the impact that varying levels of person–environment fit had on key criterion outcomes including work engagement, work-related wellbeing and turnover intentions in a unique sample of managerial and administrative mining personnel. Method. An online self-report survey was distributed to an Australian mining organization by the company’s Chief Executive Officer. Anonymous survey links were sent to staff, of which 118 participants responded. The survey consisted of previously validated measures. Results. Hierarchical multiple regression analyses revealed significant relationships between abilities–demand fit, needs–supply fit and work engagement. Additionally, work-related wellbeing was significantly associated with increased person–organization fit and needs–supply fit. However, only needs–supply fit had a significant negative relationship with turnover intentions. Needs–supply fit significantly predicted all criterion variables. Conclusions. This study found that personal need fulfilment through work-related activities had the most significant impact on work-related wellbeing and work engagement. Personal need fulfilment through work also produced the most significant negative relationship with turnover intentions.     

Hand-arm vibration disorder among grass-cutter workers in Malaysia

Introduction. Prolonged exposure to hand-transmitted vibration from grass-cutting machines has been associated with increasing occurrences of symptoms and signs of occupational diseases related to hand–arm vibration syndrome (HAVS). Methods. A cross-sectional study was carried out using an adopted HAVS questionnaire on hand–arm vibration exposure and symptoms distributed to 168 male workers from the grass and turf maintenance industry who use hand-held grass-cutting machines as part of their work. The prevalence ratio and symptom correlation to HAVS between high and low–moderate exposure risk groups were evaluated. Results. There were positive HAVS symptoms relationships between the low–moderate exposure group and the high exposure group among hand-held grass-cutting workers. The prevalence ratio was considered high because there were indicators that fingers turned white and felt numb, 3.63, 95% CI [1.41, 9.39] and 4.24, 95% CI [2.18, 8.27], respectively. Less than 14.3% of workers stated that they were aware of the occupational hand–arm vibration, and it seemed to be related to the finger blanching and numbness. Conclusion. The results suggest that HAVS is under-diagnosed in Malaysia, especially in the agricultural sectors. More information related to safety and health awareness programmes for HAVS exposure is required among hand-held grass-cutting workers.