Prenatal diagnosis of a new syndrome: Holoprosencephaly with hypokinesia

Markedly decreased fetal activity (akinesia/hypokinesia) is usually readily apparent to experienced mothers, and frequently this concern leads to attempts at prenatal diagnosis. We report prenatal diagnosis of two fetuses with congenital contractures, markedly decreased fetal movement, and microcephaly due to severe holoprosencephaly. Such familial recurrence to phenotypically normal parents suggests a newly recognized autosomal recessive or X-linked syndrome that is readily detectable by prenatal ultrasonography.     

厦门海域防控陆源污染的实践与经验

在分析厦门海域主要污染物来源的基础上,总结了厦门市针对不同来源的水污染物开展的治理措施,并重点介绍了厦门市关于化工废水、电镀废水、生活污水和养殖废水的处理与利用的4个典型实例.厦门市在防治陆源污染的实践中,逐渐形成并发挥重要作用的5项机制,即管理机制、组织协调机制、法规保障机制、科技进步机制、经济激励机制.     

First-trimester diagnosis of Meckel–Gruber syndrome by transabdominal sonography in a low-risk case

Meckel–Gruber syndrome is a rare autosomal recessive disorder often resulting in neonatal death within a few hours of life. The condition is usually diagnosed ultrasonographically in the second trimester and earlier diagnosis has been mainly confined to high recurrence risk pregnancies. We describe the earliest non-invasive diagnosis of this condition at 12⁺² weeks' gestation in a patient with no previous history using transabdominal ultrasound. Pregnancy termination was declined. Subsequent development of anhydramnios in the mid-trimester resulted in poor fetal visualization. We propose that first-trimester diagnosis of this condition is not only possible but preferable, as normal liquor volume facilitates visualization of fetal anatomy.     

调质碳酸钙硫化机理的实验研究

对经Na2CO3溶解调质后石灰石煅烧、硫化特性进行了研究，发现调质后石灰石比未经调质石灰石具有更快的煅烧分解速率。CO2浓度变化对调质CaO硫化效果的影响程度要比未经调质CaO更为明显。调质CaO比调质前具有更高的最终钙转化率，但脱硫剂微观结构测定表明，调质CaO比表面积和孔隙率均小于同等条件下获得的未经调质CaO比表面积和孔隙率。利用X－衍射技术对CaO晶体结构进行了测定，对比晶格畸变度等参数并综合煅烧、硫化及脱硫剂孔特性，提出了调质CaO硫化反应机理为：前期为化学反应控制阶段，后期为离子扩散控制阶段。应用分形理论对CaO分形维数进行了计算，发现随CO2浓度的增加，无论调质与否得到的CaO，分形维数均呈下降趋势。     

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.     

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.     

A practical dialogue protocol for sustainability science to contribute to regional resources management: its implementation in Réunion

Over the last decade, adaptive co‐management has been recommended as a policy framework to address complex and uncertain resources management issues. Implementing this theoretical management concept requires the integration of multidisciplinary research and local knowledge. Yet practical protocols to link science, policymaking and societies have yet to be developed. We designed a protocol to produce legitimate, credible and relevant solutions to a regional resources management issue. This is a two‐component protocol. A stakeholder grid categorizes stakeholder representatives in three distinct specialized dialogue arenas: institution representatives, technical experts and local end‐users. An iterative co‐design process then builds on these arenas to assess the institutional legitimacy, technical credibility and empirical relevance dimensions of a common solution initiated by an initial plausible promise. We tested this framework in Réunion to address organic waste management issues at the regional level. The plausible solution explored was the introduction of a recycling industry involved in collecting organic waste and producing and selling organic fertilizers tailored for local crop systems. The protocol application outcomes were consolidated and documented scenarios accepted by all, with knowledge exchange and the broad spread of a stabilized expectation contributing to private initiatives and public policy change.     

Modeling Connectivity of Non‐floodplain Wetlands: Insights,Approaches, and Recommendations

Representing hydrologic connectivity of non‐floodplain wetlands (NFWs) to downstream waters in process‐based models is an emerging challenge relevant to many research, regulatory, and management activities. We review four case studies that utilize process‐based models developed to simulate NFW hydrology. Models range from a simple, lumped parameter model to a highly complex, fully distributed model. Across case studies, we highlight appropriate application of each model, emphasizing spatial scale, computational demands, process representation, and model limitations. We end with a synthesis of recommended “best modeling practices” to guide model application. These recommendations include: (1) clearly articulate modeling objectives, and revisit and adjust those objectives regularly; (2) develop a conceptualization of NFW connectivity using qualitative observations, empirical data, and process‐based modeling; (3) select a model to represent NFW connectivity by balancing both modeling objectives and available resources; (4) use innovative techniques and data sources to validate and calibrate NFW connectivity simulations; and (5) clearly articulate the limits of the resulting NFW connectivity representation. Our review and synthesis of these case studies highlights modeling approaches that incorporate NFW connectivity, demonstrates tradeoffs in model selection, and ultimately provides actionable guidance for future model application and development.