Potentializing Newborn Screening

Virtually all 4.25 million babies born annually in the United States are screened for more than 50 rare genetic conditions. In a country plagued with widespread health-service access problems, this remarkable public health achievement depends on policy visions of newborn screening as the linchpin of secondary prevention and saving children's lives. Based on ethnographic research and drawing from a semiotic framework, we illustrate that newborn screening has had a much wider range of effects in the clinic than those anticipated by policy makers. How does the disconnect between policy potential and clinical experience affect the technology? We demonstrate that only some discrepancies are considered in policy circles and that instead, parents, geneticists, and policy makers renew visions of potentiality that preserve the technology's benefits in spite of evidence to the contrary. While rearticulating the potential of technologies may help actors cope with situations that do not measure up to expectations, the inevitable cost of reformulating potentiality once a technology has been implemented is that some accumulated experiences will be rendered invisible. © 2013 by The Wenner-GrenFoundation for Anthropological Research. All rights reserved

Potentializing Newborn Screening

Virtually all 4.25 million babies born annually in the United States are screened for more than 50 rare genetic conditions. In a country plagued with widespread health-service access problems, this remarkable public health achievement depends on policy visions of newborn screening as the linchpin of secondary prevention and saving children's lives. Based on ethnographic research and drawing from a semiotic framework, we illustrate that newborn screening has had a much wider range of effects in the clinic than those anticipated by policy makers. How does the disconnect between policy potential and clinical experience affect the technology? We demonstrate that only some discrepancies are considered in policy circles and that instead, parents, geneticists, and policy makers renew visions of potentiality that preserve the technology's benefits in spite of evidence to the contrary. While rearticulating the potential of technologies may help actors cope with situations that do not measure up to expectations, the inevitable cost of reformulating potentiality once a technology has been implemented is that some accumulated experiences will be rendered invisible. © 2013 by The Wenner-GrenFoundation for Anthropological Research. All rights reserved

Breast cancer genomics and immuno-oncological markers to guide immune therapies

There is an increasing awareness of the importance of tumor – immune cell interactions to the evolution and therapy responses of breast cancer (BC). Not surprisingly, numerous studies are currently assessing the clinical value of immune modulation for BC patients. However, till now durable clinical responses are only rarely observed. It is important to reali

A Time Projection Chamber with GEM-Based Readout

For the International Large Detector concept at the planned International Linear Collider, the use of time projection chambers (TPC) with micro-pattern gas detector readout as the main tracking detector is investigated. In this paper, results from a prototype TPC, placed in a 1 T solenoidal field and read out with three independent GEM-based readout modules, are reported. The TPC was exposed to a 6 GeV electron beam at the DESY II synchrotron. The efficiency for reconstructing hits, the measurement of the drift velocity, the space point resolution and the control of field inhomogeneities are presented.Comment: 22 pages, 19 figure

Fetal sex-specific differences in gestational age at delivery in pre-eclampsia : a meta-analysis

Background: Pre-eclampsia (PE) is a major pregnancy disorder complicating up to 8% of pregnancies. Increasing evidence indicates a sex-specific interplay between the mother,placenta and fetus. This may lead to different adaptive mechanisms during pregnancy. Methods: We performed an individual participant data meta-analysis to determine associations of fetal sex and PE, with specific focus on gestational age at delivery in PE. This was done on 219 575 independent live-born singleton pregnancies, with a gestational age at birth between 22.0 and 43.0 weeks of gestation, from 11 studies participating in a worldwide consortium of international research groups focusing on pregnancy. Results: Of the women, 9033 (4.1%) experienced PE in their pregnancy and 48.8% of the fetuses were female versus 51.2% male. No differences in the female/male distribution were observed with respect to term PE (delivered >= 37 weeks). Preterm PE (delivered <37 weeks) was slightly more prevalent among pregnancies with a female fetus than in pregnancies with a male fetus [odds ratio (OR) 1.11, 95% confidence interval (CI) 1.02-1.21]. Very preterm PE (delivered <34 weeks) was even more prevalent among pregnancies with a female fetus as compared with pregnancies with a male fetus (OR 1.36, 95% CI 1.17-1.59). Conclusions: Sexual dimorphic differences in the occurrence of PE exist, with preterm PE being more prevalent among pregnancies with a female fetus as compared with pregnancies with a male fetus and with no differences with respect to term PE.Peer reviewe

Fetal sex-specific differences in gestational age at delivery in pre-eclampsia: a meta-analysis

Background: : Pre-eclampsia (PE) is a major pregnancy disorder complicating up to 8% of pregnancies. Increasing evidence indicates a sex-specific interplay between the mother, placenta and fetus. This may lead to different adaptive mechanisms during pregnancy.Methods: We performed an individual participant data meta-analysis to determine associations of fetal sex and PE, with specific focus on gestational age at delivery in PE. This was done on 219 575 independent live-born singleton pregnancies, with a gestational age at birth between 22.0 and 43.0 weeks of gestation, from 11 studies participating in a worldwide consortium of international research groups focusing on pregnancy.Results: Of the women, 9033 (4.1%) experienced PE in their pregnancy and 48.8% of the fetuses were female versus 51.2% male. No differences in the female/male distribution were observed with respect to term PE (delivered ≥ 37 weeks). Preterm PE (delivered < 37 weeks) was slightly more prevalent among pregnancies with a female fetus than in pregnancies with a male fetus [odds ratio (OR) 1.11, 95% confidence interval (CI) 1.02-1.21]. Very preterm PE (delivered < 34 weeks) was even more prevalent among pregnancies with a female fetus as compared with pregnancies with a male fetus (OR 1.36, 95% CI 1.17-1.59).Conclusions: Sexual dimorphic differences in the occurrence of PE exist, with preterm PE being more prevalent among pregnancies with a female fetus as compared with pregnancies with a male fetus and with no differences with respect to term PE

Search for Branons at LEP

We search, in the context of extra-dimension scenarios, for the possible existence of brane fluctuations, called branons. Events with a single photon or a single Z-boson and missing energy and momentum collected with the L3 detector in e^+ e^- collisions at centre-of-mass energies sqrt{s}=189-209$ GeV are analysed. No excess over the Standard Model expectations is found and a lower limit at 95% confidence level of 103 GeV is derived for the mass of branons, for a scenario with small brane tensions. Alternatively, under the assumption of a light branon, brane tensions below 180 GeV are excluded