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.     

有机化合物厌氧生物降解性的测定和预测

测定有机物厌氧生物降解性的方法包括非特性参数和特性参数测定法。本文着重介绍有机物厌氧生物降解性的筛选测定法，以基团贡献法为基础，不外加其它理化参数的有机物结构与生物降解性关系的预测已经由简单的线性模型发展至专家系统和人工神经网络模型，并显示出极好的应用前景。     

Review and comparison of methods to study the contribution of variables in artificial neural network models

Convinced by the predictive quality of artificial neural network (ANN) models in ecology, we have turned our interests to their explanatory capacities. Seven methods which can give the relative contribution and/or the contribution profile of the input factors were compared: (i) the ‘PaD’ (for Partial Derivatives) method consists in a calculation of the partial derivatives of the output according to the input variables; (ii) the ‘Weights’ method is a computation using the connection weights; (iii) the ‘Perturb’ method corresponds to a perturbation of the input variables; (iv) the ‘Profile’ method is a successive variation of one input variable while the others are kept constant at a fixed value; (v) the ‘classical stepwise’ method is an observation of the change in the error value when an adding (forward) or an elimination (backward) step of the input variables is operated; (vi) ‘Improved stepwise a’ uses the same principle as the classical stepwise, but the elimination of the input occurs when the network is trained, the connection weights corresponding to the input variable studied is also eliminated; (vii) ‘Improved stepwise b’ involves the network being trained and fixed step by step, one input variable at its mean value to note the consequences on the error. The data tested in this study concerns the prediction of the density of brown trout spawning redds using habitat characteristics. The PaD method was found to be the most useful as it gave the most complete results, followed by the Profile method that gave the contribution profile of the input variables. The Perturb method allowed a good classification of the input parameters as well as the Weights method that has been simplified but these two methods lack stability. Next came the two improved stepwise methods (a and b) that both gave exactly the same result but the contributions were not sufficiently expressed. Finally, the classical stepwise methods gave the poorest results.     

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.     

Company engagement with supply chains to protect biodiversity and rare,threatened, and endangered species

Future global megatrends project a population increase of 2 billion people between 2019 and 2050 and at least 1–2 billion people added to the global middle class between 2016 and 2030. In addition, 68% of the world's population is projected to be living in urban areas by 2050. With these projected large population increases and shifts, demand for food, water, and energy is projected to grow by approximately 35, 40, and 50%, respectively, between 2010 and 2030. In addition, between 1970 and 2014 there was an estimated 60% reduction in the number of wildlife in the world and an estimated net loss of 2.9 billion birds, or 29%, in North America between 1970 and 2018. Loss of species populations and number of species is interconnected with reduced health of biodiversity and ecosystems. Human activity has been the main catalyst for these substantial declines primarily through impacts on habitats. These losses are accelerating. Since a company's supply chain environmental impacts are often as great or greater than its own direct environmental impacts, it may be prudent for companies to engage with their supply chains to protect and enhance habitats and biodiversity and protect rare, threatened, and endangered species. As one example, companies may have opportunities and strategic reasons to include requirements in their supplier codes of conduct and supplier standards for suppliers to protect biodiversity and rare, threatened, and endangered species, as well as additional requirements to expand or enhance habitats and ecosystems to increase biodiversity. This article follows one pathway that companies could pursue further and with greater speed—to engage with their supply chains to strengthen supplier codes of conduct to protect biodiversity and rare, threatened, and endangered species. The importance of forests, private land, and landscape partnerships is discussed as means to protect much more of the planet's biodiversity and rare, threatened, and endangered species. Lastly, the article identifies examples of opportunities for companies to more formally incorporate biodiversity into their business, supply chain, and sustainability strategies.     

‘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.     

Understanding traffic crash under-reporting: Linking police and medical records to individual and crash characteristics

Objective: This study aligns to the body of research dedicated to estimating the underreporting of road crash injuries and adds the perspective of understanding individual and crash factors contributing to the decision to report a crash to the police, the hospital, or both.

Method: This study focuses on road crash injuries that occurred in the province of Funen, Denmark, between 2003 and 2007 and were registered in the police, the hospital, or both authorities. Underreporting rates are computed with the capture–recapture method, and the probability for road crash injuries in police records to appear in hospital records (and vice versa) is estimated with joint binary logit models.

Results: The capture–recapture analysis shows high underreporting rates of road crash injuries in Denmark and the growth of underreporting not only with the decrease in injury severity but also with the involvement of cyclists (reporting rates of about 14% for serious injuries and 7% for slight injuries) and motorcyclists (reporting rates of about 35% for serious injuries and 10% for slight injuries). Model estimates show that the likelihood of appearing in both data sets is positively related to helmet and seat belt use, number of motor vehicles involved, alcohol involvement, higher speed limit, and females being injured.

Conclusions: This study adds significantly to the literature about underreporting by recognizing that understanding the heterogeneity in the reporting rate of road crashes may lead to devising policy measures aimed at increasing the reporting rate by targeting specific road user groups (e.g., males, young road users) or specific situational factors (e.g., slight injuries, arm injuries, leg injuries, weekend).