Melanopsin System Dysfunction in Smith-Magenis Syndrome Patients

PURPOSE: Smith-Magenis syndrome (SMS) causes sleep disturbance that is related to an abnormal melatonin profile. It is not clear how the genomic disorder leads to a disturbed synchronization of the sleep/wake rhythm in SMS patients. To evaluate the integrity of the intrinsically photosensitive retinal ganglion cell (ipRGC)/melanopsin system, the transducers of the light-inhibitory effect on pineal melatonin synthesis, we recorded pupillary light responses (PLR) in SMS patients. METHODS: Subjects were SMS patients (n = 5), with molecular diagnosis and melatonin levels measured for 24 hours and healthy controls (n = 4). Visual stimuli were 1-second red light flashes (640 nminsignificant direct ipRGC activation), followed by a 470-nm blue light, near the melanopsin peak absorption region (direct ipRGC activation). Blue flashes produce a sustained pupillary constriction (ipRGC driven) followed by baseline return, while red flashes produce faster recovery. RESULTS: Pupillary light responses to 640-nm red flash were normal in SMS patients. In response to 470-nm blue flash, SMS patients had altered sustained responses shown by faster recovery to baseline. SMS patients showed impairment in the expected melatonin production suppression during the day, confirming previous reports. CONCLUSIONS: SMS patients show dysfunction in the sustained component of the PLR to blue light. It could explain their well-known abnormal melatonin profile and elevated circulating melatonin levels during the day. Synchronization of daily melatonin profile and its photoinhibition are dependent on the activation of melanopsin. This retinal dysfunction might be related to a deficit in melanopsin-based photoreception, but a deficit in rod function is also possible.Sao Paulo Research Foundation (FAPESP) [2014/26818-2, 2014/50457-0, 2016/04538-3, 2014/06457-5, 2015/22227-2, 2016/22007-5]National Council for Scientific and Technological Development (CNPq) [480428/2013-4, 470785/2014-4, 404239/2016-1]CAPES [3263/2013]Janos Bolyai Scholarship of the Hungarian Academy of SciencesUniv Sao Paulo, Dept Expt Psychol, Inst Psychol, Sao Paulo, BrazilSemmelweis Univ, Dept Ophthalmol, Budapest, HungaryUniv Sao Paulo, Dept Neurol, Fac Med, Sao Paulo, BrazilBudapest Univ Technol & Econ, Dept Mechatron Opt & Engn Informat, Budapest, HungaryUniv Texas San Antonio, Dept Cellular & Struct Biol, San Antonio, TX USAUniv Fed Sao Paulo, Dept Physiol, Sao Paulo, BrazilUniv Sao Paulo, Dept Physiol & Biophys, Inst Biomed Sci, Av Lineu Prestes 1524, BR-05508000 Sao Paulo, SP, BrazilUniv Fed Sao Paulo, Dept Physiol, Sao Paulo, BrazilFAPESP [2014/26818-2, 2014/50457-0, 2016/04538-3, 2014/06457-5, 2015/22227-2, 2016/22007-5]CNPq [480428/2013-4, 470785/2014-4, 404239/2016-1]CAPES [3263/2013]Web of Scienc

A many-analysts approach to the relation between religiosity and well-being

The relation between religiosity and well-being is one of the most researched topics in the psychology of religion, yet the directionality and robustness of the effect remains debated. Here, we adopted a many-analysts approach to assess the robustness of this relation based on a new cross-cultural dataset (N=10,535 participants from 24 countries). We recruited 120 analysis teams to investigate (1) whether religious people self-report higher well-being, and (2) whether the relation between religiosity and self-reported well-being depends on perceived cultural norms of religion (i.e., whether it is considered normal and desirable to be religious in a given country). In a two-stage procedure, the teams first created an analysis plan and then executed their planned analysis on the data. For the first research question, all but 3 teams reported positive effect sizes with credible/confidence intervals excluding zero (median reported β=0.120). For the second research question, this was the case for 65% of the teams (median reported β=0.039). While most teams applied (multilevel) linear regression models, there was considerable variability in the choice of items used to construct the independent variables, the dependent variable, and the included covariates

A Many-analysts Approach to the Relation Between Religiosity and Well-being

The relation between religiosity and well-being is one of the most researched topics in the psychology of religion, yet the directionality and robustness of the effect remains debated. Here, we adopted a many-analysts approach to assess the robustness of this relation based on a new cross-cultural dataset (N = 10, 535 participants from 24 countries). We recruited 120 analysis teams to investigate (1) whether religious people self-report higher well-being, and (2) whether the relation between religiosity and self-reported well-being depends on perceived cultural norms of religion (i.e., whether it is considered normal and desirable to be religious in a given country). In a two-stage procedure, the teams first created an analysis plan and then executed their planned analysis on the data. For the first research question, all but 3 teams reported positive effect sizes with credible/confidence intervals excluding zero (median reported β = 0.120). For the second research question, this was the case for 65% of the teams (median reported β = 0.039). While most teams applied (multilevel) linear regression models, there was considerable variability in the choice of items used to construct the independent variables, the dependent variable, and the included covariates

Search for dark matter produced in association with bottom or top quarks in √s = 13 TeV pp collisions with the ATLAS detector

A search for weakly interacting massive particle dark matter produced in association with bottom or top quarks is presented. Final states containing third-generation quarks and miss- ing transverse momentum are considered. The analysis uses 36.1 fb−1 of proton–proton collision data recorded by the ATLAS experiment at √s = 13 TeV in 2015 and 2016. No significant excess of events above the estimated backgrounds is observed. The results are in- terpreted in the framework of simplified models of spin-0 dark-matter mediators. For colour- neutral spin-0 mediators produced in association with top quarks and decaying into a pair of dark-matter particles, mediator masses below 50 GeV are excluded assuming a dark-matter candidate mass of 1 GeV and unitary couplings. For scalar and pseudoscalar mediators produced in association with bottom quarks, the search sets limits on the production cross- section of 300 times the predicted rate for mediators with masses between 10 and 50 GeV and assuming a dark-matter mass of 1 GeV and unitary coupling. Constraints on colour- charged scalar simplified models are also presented. Assuming a dark-matter particle mass of 35 GeV, mediator particles with mass below 1.1 TeV are excluded for couplings yielding a dark-matter relic density consistent with measurements

Variability and systematic differences in normal, protan and deutan color naming

Congenital color vision deficients generally demonstrate difficulties in color naming tasks. In our study we investigated the color naming properties and uncertainties of a relatively large group of red-green color vision deficients using quasi monochromatic stimuli and seven basic color terms. The results show large variability in color naming for the color vision deficient when compared to normal color vision and similar alterations when compared protans to deutans. Statistically significant differences were found in specific wavelength ranges between the tested groups. In general, protans and deutans have shown better color naming ability than expected which suggests the use of non-chromatic visual cues

Comparison of pattern VEP results acquired using CRT and TFT stimulators in the clinical practice

There are several electrophysiological systems available commercially. Usually, control groups are required to compare their results, due to the differences between display types. Our aim was to examine the differences between CRT and LCD/TFT stimulators used in pattern VEP responses performed according to the ISCEV standards. We also aimed to check different contrast values toward thresholds. In order to obtain more precise results, we intended to measure the intensity and temporal response characteristics of the monitors with photometric methods. To record VEP signals, a Roland RetiPort electrophysiological system was used. The pattern VEP tests were carried out according to ISCEV protocols on a CRT and a TFT monitor consecutively. Achromatic checkerboard pattern was used at three different contrast levels (maximal, 75, 25%) using 1A degrees and 15` check sizes. Both CRT and TFT displays were luminance and contrast matched, according to the gamma functions based on measurements at several DAC values. Monitor-specific luminance parameters were measured by means of spectroradiometric instruments. Temporal differences between the displays` electronic and radiometric signals were measured with a device specifically built for the purpose. We tested six healthy control subjects with visual acuity of at least 20/20. The tests were performed on each subject three times on different days. We found significant temporal differences between the CRT and the LCD monitors at all contrast levels and spatial frequencies. In average, the latency times were 9.0 ms (+/- 3.3 ms) longer with the TFT stimulator. This value is in accordance with the average of the measured TFT input-output temporal difference values (10.1 +/- A 2.2 ms). According to our findings, measuring the temporal parameters of the TFT monitor with an adequately calibrated measurement setup and correcting the VEP data with the resulting values, the VEP signals obtained with different display types can be transformed to be comparable.Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)FAPESP[09/54292-7

Quality of ethics education in engineering programs using goodlad's curriculum typology

Ethics education is part of many engineering curricula and at the same time a debated matter in terms of its goals, extent and educational approach. The quality of ethics education is, however, not prominently described in engineering education research (EER). To answer this gap, we perform a literature review that focuses on ethics education in EER. We analysed the data using a general quality framework that considers four elements of quality, i.e. relevance, consistency, practicality and effectiveness. We find that EER elaborates on the relevance of ethics education in three different ways: realisation of conceptual goals as honesty, integrity, or social responsibility; support of engineering concepts as complexity or risk; or instrumentally to comply with national educational standards. EER has little focus on consistency, except for the link with the entire curriculum. Also practicality is little developed, only on whether assessment is valid and reliable in ethics education. Teachers' perceptions of the instrumentality (is it helpful in teaching), congruence (does it fit the circumstances) and cost (is it feasible with the available time and resources) are less stressed. Debates on effectiveness in turn are prominent in ethics education and focus on the influence of: student characteristics and competences; course design; connection with the curriculum; and broader cultural aspects. We conclude that consistency and practicality are largely missing in ethics education in EER and that many implicit notions of relevance and effectiveness exist. This framework can make quality more explicit and impact the discussions on ethics education in EER