15 research outputs found

    A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction

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    The developmental and physiological complexity of the auditory system is likely reflected in the underlying set of genes involved in auditory function. In humans, over 150 non-syndromic loci have been identified, and there are more than 400 human genetic syndromes with a hearing loss component. Over 100 non-syndromic hearing loss genes have been identified in mouse and human, but we remain ignorant of the full extent of the genetic landscape involved in auditory dysfunction. As part of the International Mouse Phenotyping Consortium, we undertook a hearing loss screen in a cohort of 3006 mouse knockout strains. In total, we identify 67 candidate hearing loss genes. We detect known hearing loss genes, but the vast majority, 52, of the candidate genes were novel. Our analysis reveals a large and unexplored genetic landscape involved with auditory function

    A Microdata Analysis Approach to Transport Infrastructure Maintenance

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    Maintenance of transport infrastructure assets is widely advocated as the key in minimizing current and future costs of the transportation network. While effective maintenance decisions are often a result of engineering skills and practical knowledge, efficient decisions must also account for the net result over an asset's life-cycle. One essential aspect in the long term perspective of transport infrastructure maintenance is to proactively estimate maintenance needs. In dealing with immediate maintenance actions, support tools that can prioritize potential maintenance candidates are important to obtain an efficient maintenance strategy. This dissertation consists of five individual research papers presenting a microdata analysis approach to transport infrastructure maintenance. Microdata analysis is a multidisciplinary field in which large quantities of data is collected, analyzed, and interpreted to improve decision-making. Increased access to transport infrastructure data enables a deeper understanding of causal effects and a possibility to make predictions of future outcomes. The microdata analysis approach covers the complete process from data collection to actual decisions and is therefore well suited for the task of improving efficiency in transport infrastructure maintenance. Statistical modeling was the selected analysis method in this dissertation and provided solutions to the different problems presented in each of the five papers. In Paper I, a time-to-event model was used to estimate remaining road pavement lifetimes in Sweden. In Paper II, an extension of the model in Paper I assessed the impact of latent variables on road lifetimes; displaying the sections in a road network that are weaker due to e.g. subsoil conditions or undetected heavy traffic. The study in Paper III incorporated a probabilistic parametric distribution as a representation of road lifetimes into an equation for the marginal cost of road wear. Differentiated road wear marginal costs for heavy and light vehicles are an important information basis for decisions regarding vehicle miles traveled (VMT) taxation policies. In Paper IV, a distribution based clustering method was used to distinguish between road segments that are deteriorating and road segments that have a stationary road condition. Within railway networks, temporary speed restrictions are often imposed because of maintenance and must be addressed in order to keep punctuality. The study in Paper V evaluated the empirical effect on running time of speed restrictions on a Norwegian railway line using a generalized linear mixed model

    Estimated lifetimes of road pavements in Sweden using time-to-event analysis

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    Maintenance planning of road pavement requires reliable estimates of roads’ lifetimes. In determining the lifetime of a road, this study combines maintenance activities and road condition measurements. The scope of the paper is to estimate lifetimes of road pavements in Sweden with time to event analysis. The model used includes effects of pavement type, road type, bearing capacity, road width, speed limit, stone size and climate zone, where the model is stratified according to traffic load. Among the nine analyzed pavement types, stone mastic had the longest expected lifetime, 32 percent longer than asphalt concrete. Among road types, ordinary roads with cable barriers had 30 percent shorter lifetime than ordinary roads. Increased speed lowered the lifetime, while increased stone size (up to 20 mm) and increased road width lengthened the lifetime. The results are of importance for life cycle cost analysis and road management

    A Microdata Analysis Approach to Transport Infrastructure Maintenance

    No full text
    Maintenance of transport infrastructure assets is widely advocated as the key in minimizing current and future costs of the transportation network. While effective maintenance decisions are often a result of engineering skills and practical knowledge, efficient decisions must also account for the net result over an asset's life-cycle. One essential aspect in the long term perspective of transport infrastructure maintenance is to proactively estimate maintenance needs. In dealing with immediate maintenance actions, support tools that can prioritize potential maintenance candidates are important to obtain an efficient maintenance strategy. This dissertation consists of five individual research papers presenting a microdata analysis approach to transport infrastructure maintenance. Microdata analysis is a multidisciplinary field in which large quantities of data is collected, analyzed, and interpreted to improve decision-making. Increased access to transport infrastructure data enables a deeper understanding of causal effects and a possibility to make predictions of future outcomes. The microdata analysis approach covers the complete process from data collection to actual decisions and is therefore well suited for the task of improving efficiency in transport infrastructure maintenance. Statistical modeling was the selected analysis method in this dissertation and provided solutions to the different problems presented in each of the five papers. In Paper I, a time-to-event model was used to estimate remaining road pavement lifetimes in Sweden. In Paper II, an extension of the model in Paper I assessed the impact of latent variables on road lifetimes; displaying the sections in a road network that are weaker due to e.g. subsoil conditions or undetected heavy traffic. The study in Paper III incorporated a probabilistic parametric distribution as a representation of road lifetimes into an equation for the marginal cost of road wear. Differentiated road wear marginal costs for heavy and light vehicles are an important information basis for decisions regarding vehicle miles traveled (VMT) taxation policies. In Paper IV, a distribution based clustering method was used to distinguish between road segments that are deteriorating and road segments that have a stationary road condition. Within railway networks, temporary speed restrictions are often imposed because of maintenance and must be addressed in order to keep punctuality. The study in Paper V evaluated the empirical effect on running time of speed restrictions on a Norwegian railway line using a generalized linear mixed model

    Hur tÀtt kommer barnen?

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    Denna uppsats undersöker hur tĂ€tt svenskar vĂ€ljer att föda sina barn och om detta har förĂ€ndrats över tiden. Vi granskar hur tĂ€theterna ser ut mellan det första och andra barnet samt Ă€ven mellan det andra och tredje barnet. Vi tittar ocksĂ„ pĂ„ om Ă€ldre mĂ€n och kvinnor föder sina barn tĂ€tare Ă€n yngre. De data som anvĂ€nds Ă€r ett register med samtliga svenskfödda mĂ€n och kvinnor som fĂ„tt barn under perioden 1970-2008. I slutet av 1980-talet finner vi en minskning i tĂ€theten mellan barnen som förklaras av högkonjunktur och familjepolitiska Ă„tgĂ€rder. Tiden mellan barnen ökar igen under 1990-talets lĂ„gkonjunktur, för att sedan pĂ„ nytt gĂ„ nedĂ„t under 2000-talet. Äldre förĂ€ldrar kan under hela tidsperioden konstateras föda barn med tĂ€tare intervall Ă€n yngre förĂ€ldrar. Vi undersöker huruvida orsaken till 2000-talets nedgĂ„ng kan bero pĂ„ att det blir allt vanligare med Ă€ldre förĂ€ldrar. Detta gör vi med hjĂ€lp av regressioner som skattas med OLS. Resultaten visar pĂ„ att förĂ€ldrarnas Ă„lder kan förklara en del, men inte hela, den nedĂ„tgĂ„ende trend vi ser i början pĂ„ 2000-talet

    Detecting road pavement deterioration with finite mixture models

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    Budget restrictions often limit the number of possible maintenance activities in a road network each year. To effectively allocate resources, the rate of road pavement deterioration is of great importance. If two maintenance candidates have an equivalent condition, it is reasonable to maintain the segment with the highest deterioration rate first. To identify such segments, finite mixture models were applied to road condition data from a part of the M4 highway in England. Assuming that data originates from two different normal distributions – defined as a ‘change’ distribution and an ‘unchanged’ distribution – all road segments were classified into one of the groups. Comparisons with known measurement errors and maintenance records showed that segments in the unchanged group had a stationary road condition. Segments classified into the change group showed either a rapid deterioration, improvement in condition because of previous maintenance or unusual measurement errors. Together with additional information from maintenance records, finite mixture models can identify segments with the most rapid deterioration rate, and contribute to more efficient maintenance decisions

    At-a-glance - The role of opioid toxicity in suicide deaths in Alberta, 2000 to 2016

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    Introduction: Ontario delisted high-strength fentanyl, hydromorphone and morphine from the public drug formulary for non-palliative care prescribers on 31 January, 2017. Our aim is to assess the early impact of this policy on prescribing patterns and to examine whether this impact varied by prescriber type, opioid type and opioid strength. Methods: We conducted a population-based, cross-sectional study on palliative and non-palliative care patients dispensed fentanyl, hydromorphone or morphine through the Ontario public drug program between 1 January, 2014, and 31 July, 2017. For each month during the study period, we reported the total number of high-strength opioid recipients stratified by prescriber type, and the total volume of each drug dispensed, stratified by strength. We used interventional autoregressive integrated moving average (ARIMA) models to assess the policy’s impact on prescribing patterns. Results: We observed a 98% decrease in the total number of publicly funded recipients of high-strength opioids between December 2016 and July 2017 (5930 to 133 recipients) for all prescribers. The policy led to a significant decline in the total volume of all three opioids dispensed: hydromorphone from 20 374 621 to 16 952 097 mg (p lt;.01);morphinefrom40644190to33555480mg(plt; .01); morphine from 40 644 190 to 33 555 480 mg (p lt; .03); and fentanyl from 9 604 913 to 5 842 405 mcg/h (p $lt; .01). For both fentanyl and hydromorphone, this reduction generally corresponded to an increase in the number of low-strength opioids dispensed. Conclusion: Delisting high-strength opioids substantially reduced the number of highstrength opioid recipients and reduced the overall volume of long-acting opioids dispensed in Ontario through the public drug program. Future studies should examine its impact on patient outcomes

    Text Message Reminders to Improve Immunization Appointment Attendance in Alberta, Canada: The Childhood Immunization Reminder Project Pilot Study

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    BackgroundVaccine coverage for 18-month-old children in Canada is often below the recommended level, which may be partially because of parental forgetfulness. SMS text message reminders have been shown to potentially improve childhood immunization uptake but have not been widely used in Alberta, Canada. In addition, it has been noted that language barriers may impede immunization service delivery but continue to remain unaddressed in many existing reminder and recall systems. ObjectiveThis study aimed to assess the effectiveness and acceptability of using SMS text messages containing a link to web-based immunization information in different languages to remind parents of their child’s 18-month immunization appointment. MethodsThe Childhood Immunization Reminder Project was a pilot intervention at 2 public health centers, one each in Lethbridge and Edmonton, Alberta, Canada. Two SMS text message reminders were sent to parents: a booking reminder 3 months before their child turned 18 months old and an appointment reminder 3 days before their scheduled appointment. Booking reminders included a link to the study website hosting immunization information in 9 languages. To evaluate intervention effectiveness, we compared the absolute attendance no-show rates before the intervention and after the intervention. The acceptability of the intervention was evaluated through web-based surveys completed by parents and public health center staff. Google Analytics was used to determine how often web-based immunization information was accessed, from where, and in which languages. ResultsFollowing the intervention, the health center in Edmonton had a reduction of 6.4% (95% CI 3%-9.8%) in appointment no-shows, with no change at the Lethbridge Health Center (0.8%, 95% CI −1.4% to 3%). The acceptability surveys were completed by 222 parents (response rate: 23.9%) and 22 staff members. Almost all (>95%) respondents indicated that the reminders were helpful and provided useful suggestions for improvement. All surveyed parents (222/222, 100%) found it helpful to read web-based immunization information in their language of choice. Google Analytics data showed that immunization information was most often read in English (118/207, 57%), Punjabi (52/207, 25.1%), Arabic (13/207, 6.3%), Spanish (12/207, 5.8%), Italian (4/207, 1.9%), Chinese (4/207, 1.9%), French (2/207, 0.9%), Tagalog (1/207, 0.5%), and Vietnamese (1/207, 0.5%). ConclusionsThe study’s findings support the use of SMS text message reminders as a convenient and acceptable method to minimize parental forgetfulness and potentially reduce appointment no-shows. The diverse languages accessed in web-based immunization information suggest the need to provide appropriate translated immunization information. Further research is needed to evaluate the impact of SMS text message reminders on childhood immunization coverage in different settings
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