First trimester prenatal diagnosis of haemophilia A: Two years' experience

We evaluated the feasibility, reliability, and acceptability of prenatal diagnosis of haemophilia A by DNA analysis of chorionic villi. Twenty-two women at risk to transmit the abnormal gene were referred for prenatal diagnosis, two of them twice. Two of the 22 women appeared to be non-carriers by DNA analysis. In one of these women, the results were known only after chorionic villus sampling had been carried out. Thirteen of the twenty carriers were heterozygous for an intragenic (Bell or Xbal) marker; six women were only heterozygous for the extragenic DXS52 (Stl4) locus. One of the women was homozygous for all the presently known DNA markers within or closely linked with the factor VIII locus. Twelve of the 22 fetuses at risk were male, ten were female. Seven of the 12 male fetuses were shown to be affected and were subsequently aborted. Four male fetuses appeared to be not affected. In one case, the diagnosis was made by use of an extragenic marker. The woman rejected fetal blood sampling to confirm the diagnosis. After birth, a normal factor VIII level was found in three of the four cases. The fourth pregnancy is still continuing. In one of the 12 male fetuses, no diagnosis at the gene level was possible. DNA analysis is expected to provide maximum certainty as to the phenotype of the fetus for approximately 60 per cent of the women; for another 37 per cent a rate of misdiagnosis of 4–5 per cent applies. In only 3 per cent of the cases will no diagnosis at the gene level be possible as yet. The new possibility of a prenatal diagnosis in the first trimester of pregnancy enabled some of these women to have a family of their own and was appreciated in particular by the women who underwent fetoscopy in an earlier pregnancy.     

Circulating ‘trophoblast’ cells in pregnancy have maternal genetic markers

A syncytiotrophoblast-associated antigen identified by the monoclonal antibody (McAb) H315 is detectable on the surface of a low proportion of peripheral blood cells in pregnant women, raising the possibility of a new approach to prenatal diagnosis of genetic disorders. We aimed at verifying the trophoblastic origin of H315⁺ cells and their use for prenatal diagnosis of β-thalassaemia. H315 ⁺ cells were separated from the peripheral blood of pregnant women: the DNA obtained from these cells in two selected cases was shown to have genetic markers indistinguishable from those of the mother and definitely different from the fetus. Our results suggest that H315 antigen is expressed by maternal cells and that prenatal diagnosis on peripheral blood of the mother using H315 McAb is not feasible.     

Prenatal diagnosis of genetic microcephaly

True microcephaly can be diagnosed at an early stage of gestation by serial measurements of fetal head growth as demonstrated by this case report in which the diagnosis of genetic microcephaly was made but termination refused. True microcephaly was evident at birth.     

Prenatal diagnosis of Freeman–Sheldon syndrome (whistling face)

The diagnosis of Freeman–Sheldon syndrome was made by ultrasonographic evaluation of a 20-week fetus with a positive family history. The ultrasonographic features were abnormalities of the extremities and mouth.     

Severity models of cross-median and rollover crashes on rural divided highways in Pennsylvania

Introduction

Crossover and rollover crashes in earth-divided, traversable medians on rural divided highways can lead to severe injury outcomes. This study estimated severity models of these two crash types. Vehicle, driver, roadway, and median cross-section design data were factors considered in the models. A unique aspect of the data used to estimate the models were the availability of median cross-slope data, which are not commonly included in roadway inventory data files.

Methods

A binary logit model of cross-median crash severity and a multinomial logit model of rollover crash severity were estimated using five years of data from rural divided highways in Pennsylvania.

Results

The highest probability of a fatal or major injury in cross-median and rollover crashes was found to occur in cases when a driver was not wearing a seatbelt. While flatter cross-slopes and narrower medians were associated with more severe cross-median crash outcomes, steeper cross-slopes and narrower medians significantly increased rollover crash severity outcomes. The presence of horizontal curves was associated with increased probabilities of high-severity outcomes in a median rollover crash.

Impact on Industry

Modeling results in this study confirmed that cross-median and median rollover crash severity outcomes are associated with median cross-section design characteristics. Based on the estimated models, it appears that flatter and narrower medians lead to more severe injury outcomes in cross-median crashes. Steeper median cross-slopes and narrower medians were associated with higher probabilities of more severe outcomes in median rollover crashes. The results presented in this study suggest that there is a trade-off between median cross-section design and cross-median and rollover crashes in earth-divided, traversable medians on rural divided highways. While the severity models can be included in a framework to develop design guidance in relation to this trade-off, models of crash frequency should also be considered.     

Overview of motorcycling in the United States: a national telephone survey

Objectives

Motorcycle registrations have risen in recent years. Although motorcyclist crash fatalities in 2009 were 16% lower than in 2008, they were double the number of deaths in 1997. The present study examined current motorcyclists’ travel patterns and views of motorcycle helmets and other safety topics.

Methods

Motorcycle drivers were interviewed in a national telephone survey conducted in 2009. A weighted sample of 1,606 motorcyclists resulted from adjusting for the oversampling of those younger than 40 and those in the three states without a motorcycle helmet use law (Illinois, Iowa, New Hampshire). All analyses were based on the weighted sample, which was intended to result in a nationally representative sample of motorcyclists.

Results

About one-quarter of respondents said they did not always wear helmets. Of these respondents, 57% said a law requiring helmet use would persuade them to do so, and 27% said nothing would. Ninety-four percent of respondents in states with universal helmet laws said they always ride helmeted, compared with about half of respondents in other states. About half of all respondents favored these laws. About three-quarters said they believe helmets keep riders safer, including two-thirds of respondents who oppose universal laws and almost half of drivers who rarely/never wear helmets. Drivers ages 18–29 and drivers of sport/unclad sport, sport touring, and super sport motorcycles were more likely to always wear helmets, support universal helmet laws, and believe helmets keep riders safer. About half of respondents said antilock braking systems (ABS) enhance safety and that they would get ABS on their next motorcycle. Less than one-quarter thought an airbag would protect a motorcyclist in a crash, and even fewer would consider getting one on their next motorcycle. Forty-three percent of motorcyclists said they had crashed at least once; 62% of the most recent crashes involved no vehicles besides the motorcycle. Respondents reported riding their motorcycles about 5,400 miles, on average, during the past year. Drivers ages 18–29 reported riding fewer miles, on average, than older drivers and more often rode at night and to/from work or school. Drivers of touring and sport touring motorcycles traveled more miles and took more long trips.

Conclusions

Motorcyclists’ travel patterns and views vary widely, but there are distinct patterns by driver age and motorcycle type. Drivers who believe helmets keep riders safer are more likely to always wear them, but this belief appears insufficient to motivate some drivers to wear them. However, universal helmet laws appear effective in increasing helmet use. Many drivers are receptive to purchasing ABS on their next motorcycle.

Impact on industry

States should be encouraged to enact universal helmet laws, and motorcycle manufacturers should be encouraged to offer ABS.     

Implementing falls prevention research into policy and practice in Australia: past, present and future

Introduction

Falls in older Australians are a significant public health issue with one in three older people falling one or more times each year.

Method

Many fall prevention randomized controlled trials have been conducted in Australia as well as across the world.

Results

The findings of these studies now constitute a substantial evidence base that can provide direction for health and lifestyle interventions for preventing falls in older people. This research evidence has contributed to health policy in Australia to some extent, but is yet to be widely implemented into practice. This opinion piece overviews previous policy initiatives and describes a new Partnership research program funded by the Australian National Health and Medical Research Council (NHMRC), which seeks to further influence health policy and address the ongoing research-practice gap.