The founder variant DHCR7:c.964-1G>C causing autosomal recessive Smith-Lemli-Opitz (SLOS) was introduced into the Israeli preconception carrier program for Ashkenazi Jews in 2017 because of the high ...carrier frequency in this population (2.3%). Other disease-causing variants in DHCR7 are relatively rare in Israeli population. Discrepancy between the carrier frequency and disease prevalence raises the question of the actual risks for affected offspring for couples detected by the screening program. We performed a literature review of all relevant publications regarding homozygous DHCR7:c.964-1G>C fetuses/patients. We also collected clinical data about couples identified in the national screening program, including reproductive history. Out of 32 homozygous fetuses, six died in utero, 11 pregnancies were terminated during second trimester, and 15 children were born. All died between first days of life till 3 months of age. Reproductive history of SLOS-at-risk couples showed that after correction for ascertainment bias, out of 61 pregnancies, there was an absence of affected fetuses/children and an excess of miscarriages even if assumed that all the homozygous fetuses were miscarried. Out of these, eight families were Israelis, they had a total of one sick child, 21 healthy children, and 21 miscarriages. Our observations support the previous knowledge that homozygosity for c.964-1G>C in DHCR7 leads to a severe phenotype or early miscarriage. An unexpected observation was the excess of early miscarriages. This phenomenon is unclear and awaits further studies.
The sense of self-agency, i.e., experiencing oneself as the cause of one's own actions, is impaired in patients with schizophrenia. Normally, inferences of self-agency are enhanced when actual ...outcomes match with pre-activated outcome information, where this pre-activation can result from explicitly set goals (i.e., goal-based route) or implicitly primed outcome information (i.e., prime-based route). Previous research suggests that patients show specific impairments in the prime-based route, implicating that they do not rely on matches between implicitly available outcome information and actual action-outcomes when inferring self-agency. The question remains: Why? Here, we examine whether neurocognitive functioning and self-serving bias (SSB) may explain abnormalities in patients’ agency inferences.
Thirty-six patients and 36 healthy controls performed a commonly used agency inference task to measure goal- and prime-based self-agency inferences. Neurocognitive functioning was assessed with the Brief Assessment of Cognition in Schizophrenia (BACS) and the SSB was assessed with the Internal Personal and Situational Attributions Questionnaire.
Results showed a substantial smaller effect of primed outcome information on agency experiences in patients compared with healthy controls. Whereas patients and controls differed on BACS and marginally on SSB scores, these differences were not related to patients’ impairments in prime-based agency inferences.
Patients showed impairments in prime-based agency inferences, thereby replicating previous studies. This finding could not be explained by cognitive dysfunction or SSB. Results are discussed in the context of the recent surge to understand and examine deficits in agency experiences in schizophrenia.
This paper presents the techniques used to monitor radiation damage in the LHCb Tracker Turicensis during the LHC Runs 1 and 2. Bulk leakage currents in the silicon sensors were monitored ...continuously, while the full depletion voltages of the sensors were estimated at regular intervals by performing dedicated scans of the charge collection efficiency as a function of the applied bias voltage. Predictions of the expected leakage currents and full depletion voltages are extracted from the simulated radiation profile, the luminosity delivered by the LHC, and the thermal history of the silicon sensors. Good agreement between measurements and predictions is found.
•People repeatedly encounter self-control response conflicts in daily life.•A longitudinal study investigated how response conflict develops over time.•Over time, people became faster at successfully ...resolving response conflicts.•The same response conflicts became bigger over time.•Repeated confrontation with response conflicts facilitates conflict resolution.
People repeatedly encounter response conflicts (i.e., self-control dilemmas between long-term and short-term goals). A longitudinal study was conducted to investigate how resolution of response conflict develops over time. Participants pursued a long-term goal. The design entailed pre- and post-measurements, as well as daily/weekly measures using a mobile application over a range of 10–110 days. Of the 180 people participating in the pre-measurement, 90 also completed the post-measurement. Over time, people became faster at successfully resolving response conflicts. The same response conflicts became bigger over time. Repeatedly being confronted with response conflicts facilitates resolution of these conflicts, by improving the identification of these conflicts, resulting in faster resolution.
Starting from a specific task requirement a brick laying robot has been designed. The tight performance claims which have been imposed by the task specification, constitute the basis for the research ...on control of hydraulically driven manipulators. The main goal is to increase robot efficiency and task suitability by application of modern control techniques. The introduced cascade
Δp inner-loop for hydraulic actuators is presented as a solution for the posed control problem.
Levosimendan was first approved for clinic use in 2000, when authorisation was granted by Swedish regulatory authorities for the haemodynamic stabilisation of patients with acutely decompensated ...chronic heart failure. In the ensuing 20 years, this distinctive inodilator, which enhances cardiac contractility through calcium sensitisation and promotes vasodilatation through the opening of adenosine triphosphate-dependent potassium channels on vascular smooth muscle cells, has been approved in more than 60 jurisdictions, including most of the countries of the European Union and Latin America. Areas of clinical application have expanded considerably and now include cardiogenic shock, takotsubo cardiomyopathy, advanced heart failure, right ventricular failure and pulmonary hypertension, cardiac surgery, critical care and emergency medicine. Levosimendan is currently in active clinical evaluation in the US. Levosimendan in IV formulation is being used as a research tool in the exploration of a wide range of cardiac and non-cardiac disease states. A levosimendan oral form is at present under evaluation in the management of amyotrophic lateral sclerosis. To mark the 20 years since the advent of levosimendan in clinical use, 51 experts from 23 European countries (Austria, Belgium, Croatia, Cyprus, Czech Republic, Estonia, Finland, France, Germany, Greece, Hungary, Italy, the Netherlands, Norway, Poland, Portugal, Russia, Slovenia, Spain, Sweden, Switzerland, UK and Ukraine) contributed to this essay, which evaluates one of the relatively few drugs to have been successfully introduced into the acute heart failure arena in recent times and charts a possible development trajectory for the next 20 years.
We present non-linear binary Probit models to capture the turning points in global economic activity as well as in advanced and emerging economies from 1980 to 2016. For that purpose, we use four ...different business cycle dating methods to identify the regimes (upswings, downswings). We find that especially activity-driven variables are important indicators for the turning points. Moreover, we identify similarities and differences between the different regions in this respect.
This article deals with the injection moulding into the plastic mould. This is an unconventional approach to injection moulding, especially because the 3D printing is used to produce the mould. The ...mould with the same shape was made of a conventional material (aluminium) for comparison. The properties of the plastic mould were then compared to the aluminium mould. The flash was seen as the main shortcoming. The modifications of the mould were suggested in two variants, one of them was implemented. The advantage of the flash solution was described. Finally, other solution options were summarized based on the performed testing.