Recurrence rates for SIDS - the importance of risk stratification

Objective: To investigate the importance of stratification by risk factors in computing the probability of a second SIDS in a family. Design: Simulation Study Background: The fact that a baby dies suddenly and unexpectedly means that there is a raised probability that the baby’s family have risk factors associated with Sudden Infant Death Syndrome (SIDS). Thus one cannot consider the risk of a subsequent death to be that of the general population. The Confidential Enquiry into Stillbirths and Deaths in Infancy (CESDI)6 identified three major social risk factors: smoking, age1, and unemployed/unwaged as major risk factors. It gave estimates of risk for families with different numbers of these risk factors. We investigate whether it is reasonable to assume that, conditional on these risk factors, the risk of a second event is independent of the risk of the first and as a consequence one can square the risks to get the risk of two SIDS in a family. We have used CESDI data to estimate the probability of a second SID in a family under different plausible scenarios of the prevalence of the risk factors. We have applied the model to make predictions in the Care of Next Infant (CONI) study7. Results: The model gave plausible predictions. The CONI study observed 18 second SIDS. Our model predicted 14 (95% prediction interval 7 to 21). Conclusion: When considering the risk of a subsequent SIDS in a family one should always take into account the known risk factors. If all risks have been identified, then conditional on these risks, the risk of two events is the product of the individual risks However for a given family we cannot quantify the magnitude of the increased risk because of other possible risk factors not accounted for in the model

Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene

Autosomal-recessive cerebellar ataxias (ARCA) are clinically and genetically heterogeneous conditions primarily affecting the cerebellum. Mutations in the PNPLA6 gene have been identified as the cause of hereditary spastic paraplegia and complex forms of ataxia associated with retinal and endocrine manifestations in a field where the genotype-phenotype correlations are rapidly expanding. We identified two cousins from a consanguineous family belonging to a large Zoroastrian (Parsi) family residing in Mumbai, India, who presented with pure cerebellar ataxia without chorioretinal dystrophy or hypogonadotropic hypogonadism. We used a combined approach of clinical characterisation, homozygosity mapping, whole-exome and Sanger sequencing to identify the genetic defect in this family. The phenotype in the family was pure cerebellar ataxia. Homozygosity mapping revealed one large region of shared homozygosity at chromosome 19p13 between affected individuals. Within this region, whole-exome sequencing of the index case identified two novel homozygous missense variants in the PNPLA6 gene at c.3847G>A (p.V1283M) and c.3929A>T (p.D1310V) in exon 32. Both segregated perfectly with the disease in this large family, with only the two affected cousins being homozygous. We identified for the first time PNPLA6 mutations associated with pure cerebellar ataxia in a large autosomal-recessive Parsi kindred. Previous mutations in this gene have been associated with a more complex phenotype but the results here suggest an extension of the associated disease spectrum

Socializing accountability for improving primary healthcare: an action research program in rural Karnataka

The Alma Ata Declaration of 1978 invoked a socialising form of accountability through which communities and health workers participated in and were jointly accountable for primary healthcare. Aside from a few experiments, by the 1990s these ideals were quickly replaced by policy prescriptions based on increasing efficiency in data quality and reporting through the introduction of health information systems. More recently, there has been a revival of interest in community participation as a mechanism for improving the poor status of primary healthcare in developing countries through the constitution of village health committees. This paper documents and reflects on nine years of research on interventions aimed at improving primary healthcare accountability in rural Karnataka. Over this period, our focus has shifted from studying how computerised health information systems can strengthen conventional accountability systems to a period of extended participatory action research aimed at socialising accountability practices at village level. The findings from this study constitute vital knowledge for reforming the primary healthcare sector through different policy measures including the design of appropriate technology-based solutions

Modelling the Dynamics of an Aedes albopictus Population

We present a methodology for modelling population dynamics with formal means of computer science. This allows unambiguous description of systems and application of analysis tools such as simulators and model checkers. In particular, the dynamics of a population of Aedes albopictus (a species of mosquito) and its modelling with the Stochastic Calculus of Looping Sequences (Stochastic CLS) are considered. The use of Stochastic CLS to model population dynamics requires an extension which allows environmental events (such as changes in the temperature and rainfalls) to be taken into account. A simulator for the constructed model is developed via translation into the specification language Maude, and used to compare the dynamics obtained from the model with real data.Comment: In Proceedings AMCA-POP 2010, arXiv:1008.314

Dosimetric characterization of a large area pixel-segmented ionization chamber.

A pixel-segmented ionization chamber has been designed and built by Torino University and INFN. The detector features a 24 x 24 cm2 active area divided in 1024 independent cylindrical ionization chambers and can be read out in 500 micros without introducing dead time; the digital charge quantum can be adjusted between 100 fC and 800 fC. The sensitive volume of each single ionization chamber is 0.07 cm3. The purpose of the detector is to ease the two-dimensional (2D) verifications of fields with complex shapes and large gradients. The detector was characterized in a PMMA phantom using 60Co and 6 MV x-ray photon beams. It has shown good signal linearity with respect to dose and dose rate to water. The average sensitivity of a single ionization chamber was 2.1 nC/Gy, constant within 0.5% over one month of daily measurements. Charge collection efficiency was 0.985 at the operating polarization voltage of 400 V and 3.5 Gy/min dose rate. Tissue maximum ratio and output factor have been compared with a Farmer ionization chamber and were found in good agreement. The dose profiles have been compared with the ones obtained with an ionization chamber in water phantom for the field sizes supplied by a 3D-Line dynamic multileaf collimator. These results show that this detector can be used for 2D dosimetry of x-ray photon beams, supplying a good spatial resolution and sensibly reducing the time spent in dosimetric verification of complex radiation fields

Promoting Transparency in Social Science Research

There is growing appreciation for the advantages of experimentation in the social sciences. Policy-relevant claims that in the past were backed by theoretical arguments and inconclusive correlations are now being investigated using more credible methods. Changes have been particularly pronounced in development economics, where hundreds of randomized trials have been carried out over the last decade. When experimentation is difficult or impossible, researchers are using quasi-experimental designs. Governments and advocacy groups display a growing appetite for evidence-based policy-making. In 2005, Mexico established an independent government agency to rigorously evaluate social programs, and in 2012, the U.S. Office of Management and Budget advised federal agencies to present evidence from randomized program evaluations in budget requests (1, 2)