Genome-wide analysis points to roles for extracellular matrix remodeling, the visual cycle, and neuronal development in myopia

Myopia, or nearsightedness, is the most common eye disorder, resulting primarily from excess elongation of the eye. The etiology of myopia, although known to be complex, is poorly understood. Here we report the largest ever genome-wide association study (43,360 participants) on myopia in Europeans. We performed a survival analysis on age of myopia onset and identified 19 significant associations (p < 5e-8), two of which are replications of earlier associations with refractive error. These 19 associations in total explain 2.7% of the variance in myopia age of onset, and point towards a number of different mechanisms behind the development of myopia. One association is in the gene PRSS56, which has previously been linked to abnormally small eyes; one is in a gene that forms part of the extracellular matrix (LAMA2); two are in or near genes involved in the regeneration of 11-cis-retinal (RGR and RDH5); two are near genes known to be involved in the growth and guidance of retinal ganglion cells (ZIC2, SFRP1); and five are in or near genes involved in neuronal signaling or development. These novel findings point towards multiple genetic factors involved in the development of myopia and suggest that complex interactions between extracellular matrix remodeling, neuronal development, and visual signals from the retina may underlie the development of myopia in humans

The Successful Operation of Hole-type Gaseous Detectors at Cryogenic Temperatures

We have demonstrated that hole-type gaseous detectors, GEMs and capillary plates, can operate up to 77 K. For example, a single capillary plate can operate at gains of above 10E3 in the entire temperature interval between 300 until 77 K. The same capillary plate combined with CsI photocathodes could operate perfectly well at gains (depending on gas mixtures) of 100-1000. Obtained results may open new fields of applications for capillary plates as detectors of UV light and charge particles at cryogenic temperatures: noble liquid TPCs, WIMP detectors or LXe scintillating calorimeters and cryogenic PETs.Comment: Presented at the IEEE Nuclear Science Symposium, Roma, 200

Patient participation in electronic nursing documentation:an interview study among community nurses

Background Patient participation in nursing documentation has several benefits like including patients' personal wishes in tailor-made care plans and facilitating shared decision-making. However, the rise of electronic health records may not automatically lead to greater patient participation in nursing documentation. This study aims to gain insight into community nurses' experiences regarding patient participation in electronic nursing documentation, and to explore the challenges nurses face and the strategies they use for dealing with challenges regarding patient participation in electronic nursing documentation. Methods A qualitative descriptive design was used, based on the principles of reflexive thematic analysis. Nineteen community nurses working in home care and using electronic health records were recruited using purposive sampling. Interviews guided by an interview guide were conducted face-to-face or by phone in 2019. The interviews were inductively analysed in an iterative process of data collection-data analysis-more data collection until data saturation was achieved. The steps of thematic analysis were followed, namely familiarization with data, generating initial codes, searching for themes, reviewing themes, defining and naming themes, and reporting. Results Community nurses believed patient participation in nursing documentation has to be tailored to each patient. Actual participation depended on the phase of the nursing process that was being documented and was facilitated by patients' trust in the accuracy of the documentation. Nurses came across challenges in three domains: those related to electronic health records (i.e. technical problems), to work (e.g. time pressure) and to the patients (e.g. the medical condition). Because of these challenges, nurses frequently did the documentation outside the patient's home. Nurses still tried to achieve patient participation by verbally discussing patients' views on the nursing care provided and then documenting those views at a later moment. Conclusions Although community nurses consider patient participation in electronic nursing documentation important, they perceive various challenges relating to electronic health records, work and the patients to realize patient participation. In dealing with these challenges, nurses often fall back on verbal communication about the documentation. These insights can help nurses and policy makers improve electronic health records and develop efficient strategies for improving patient participation in electronic nursing documentation

Pollen-based temperature and precipitation changes in the Ohrid Basin (western Balkans) between 160 and 70 ka

Our study aims to reconstruct climate changes that occurred at Lake Ohrid (south-western Balkan Peninsula), the oldest extant lake in Europe, between 160 and 70&thinsp;ka (covering part of marine isotope stage 6, MIS 6; all of MIS 5; and the beginning of MIS 4). A multi-method approach, including the “Modern Analog Technique” and the “Weighted Averaging Partial Least-Squares Regression”, is applied to the high-resolution pollen sequence of the DEEP site, collected from the central part of Lake Ohrid, to provide quantitative estimates of climate and bioclimate parameters. This allows us to document climatic change during the key periods of MIS 6 and MIS 5 in southern Europe, a region where accurate climate reconstructions are still lacking for this time interval. Our results for the penultimate glacial show cold and dry conditions, while the onset of the “last interglacial” is characterized by wet and warm conditions, with temperatures higher than today (by ca. 2&thinsp;∘C). The Eemian also shows the well-known climatic tri-partition in the Balkans, with an initial pre-temperate phase of abrupt warming (128–121&thinsp;ka), a central temperate phase with decreasing temperatures associated with wet conditions (121–118&thinsp;ka), followed by a post-temperate phase of progressive change towards cold and dry conditions (118–112&thinsp;ka). After the Eemian, an alternation of four warm/wet periods with cold/dry ones, likely related to the succession of Greenland stadials and cold events known from the North Atlantic, occurred. The observed pattern is also consistent with hydrological and isotopic data from the central Mediterranean. The Lake Ohrid climate reconstruction shows greater similarity with climate patterns inferred from northern European pollen records than with southern European ones, which is probably due to its intermediate position and the mountainous setting. However, this hypothesis needs further testing as very few climate reconstructions are available for southern Europe for this key time period.</p

Efficient Replication of Over 180 Genetic Associations with Self-Reported Medical Data

While the cost and speed of generating genomic data have come down dramatically in recent years, the slow pace of collecting medical data for large cohorts continues to hamper genetic research. Here we evaluate a novel online framework for amassing large amounts of medical information in a recontactable cohort by assessing our ability to replicate genetic associations using these data. Using web-based questionnaires, we gathered self-reported data on 50 medical phenotypes from a generally unselected cohort of over 20,000 genotyped individuals. Of a list of genetic associations curated by NHGRI, we successfully replicated about 75% of the associations that we expected to (based on the number of cases in our cohort and reported odds ratios, and excluding a set of associations with contradictory published evidence). Altogether we replicated over 180 previously reported associations, including many for type 2 diabetes, prostate cancer, cholesterol levels, and multiple sclerosis. We found significant variation across categories of conditions in the percentage of expected associations that we were able to replicate, which may reflect systematic inflation of the effects in some initial reports, or differences across diseases in the likelihood of misdiagnosis or misreport. We also demonstrated that we could improve replication success by taking advantage of our recontactable cohort, offering more in-depth questions to refine self-reported diagnoses. Our data suggests that online collection of self-reported data in a recontactable cohort may be a viable method for both broad and deep phenotyping in large populations

Beyond the RICH: Innovative Photosensitive Gaseous Detectors for new Fields of Applications

We have developed and successfully used several innovative designs of detectors with solid photocathodes. The main advantage of these detectors is that rather high gains (>10E4) can be achieved in a single multiplication step. This is possible by, for instance, exploiting the secondary electron multiplication and limiting the energy of the steamers by distributed resistivity. The single step approach also allows a very good position resolution to be achieved in some devices: 50 micron on line without applying any treatment method (like center of gravity). The main focus of our report is new fields of applications for these detectors and the optimization of their designs for such purposes.Comment: 14 pages, 7 figures, 3 table

The development of gaseous detectors with solid photocathodes for low temperature

There are several applications and fundamental research areas which require the detection of VUV light at cryogenic temperatures. For these applications we have developed and successfully tested special designs of gaseous detectors with solid photocathodes able to operate at low temperatures: sealed gaseous detectors with MgF2 windows and windowless detectors. We have experimentally demonstrated, that both primary and secondary (due to the avalanche multiplication inside liquids) scintillation lights could be recorded by photosensitive gaseous detectors. The results of this work may allow one to significantly improve the operation of some noble liquid gas TPCs.Comment: Presented at the X Vienna Conference on Instumentation, Vienna, February 200

The Multiwavelength Survey By Yale-Chile (MUSYC) Wide K-Band Imaging, Photometric Catalogs, Clustering, And Physical Properties Of Galaxies At Z Similar To 2

We present K-band imaging of two similar to 30' x 30' fields covered by the Multiwavelength Survey by Yale-Chile (MUSYC) Wide NIR Survey. The SDSS 1030+05 and Cast 1255 fields were imaged with the Infrared Side Port Imager (ISPI) on the 4 m Blanco telescope at the Cerro Tololo Inter-American Observatory (CTIO) to a 5 sigma point-source limiting depth of K similar to 20 (Vega). Combining these data with the MUSYC optical UBVRIz imaging, we created multiband K-selected source catalogs for both fields. These catalogs, together with the MUSYC K-band catalog of the Extended Chandra Deep Field South (ECDF-S) field, were used to select K 20 BzK galaxies over an area of 0.71 deg(2). This is the largest area ever surveyed for BzK galaxies. We present number counts, redshift distributions, and stellar masses for our sample of 3261 BzK galaxies (2502 star-forming [sBzK] and 759 passively evolving [pBzK]), as well as reddening and star formation rate estimates for the star-forming BzK systems. We also present two-point angular correlation functions and spatial correlation lengths for both sBzK and pBzK galaxies and show that previous estimates of the correlation function of these galaxies were affected by cosmic variance due to the small areas surveyed. We have measured correlation lengths r(0) of 8.89 +/- 2.03 and 10.82 +/- 1.72 Mpc for sBzK and pBzK galaxies, respectively. This is the first reported measurement of the spatial correlation function of passive BzK galaxies. In the Lambda CDM scenario of galaxy formation, these correlation lengths at z similar to 2 translate into minimum masses of similar to 4 x 10(12) and similar to 9 x 10(12) M(circle dot) for the dark matter halos hosting sBzK and pBzK galaxies, respectively. The clustering properties of the galaxies in our sample are consistent with their being the descendants of bright Lyman break galaxies at z similar to 3, and the progenitors of present-day > 1L* galaxies.Astronom

Aligning MIS5 proxy records from Lake Ohrid (FYROM) with independently dated Mediterranean archives: implications for core chronology

The DEEP site sediment sequence obtained during the ICDP SCOPSCO project at Lake Ohrid was dated using tephrostratigraphic information, cyclostratigraphy, and orbital tuning through marine isotope record. Although this approach is suitable for the generation of a general chronological framework of the long succession, it is insufficient to resolve more detailed paleoclimatological questions, such as leads and lags of climate events between marine and terrestrial records or between different regions. In this paper, we demonstrate how the use of different tie points can affect cyclostratigraphy and orbital tuning for the period between ca. 140 and 70 ka and how the results can be correlated with directly/indirectly radiometrically-dated Mediterranean marine and continental proxy records. The alternative age model obtained shows consistent differences with that proposed by Francke et al. (2015) for the same interval, in particular at the level of the MIS6-5e transition. According to this age model, different proxies from the DEEP site sediment record support an increase of temperatures between glacial to interglacial conditions, which is almost synchronous with a rapid increase in sea surface temperature observed in the western Mediterranean. The results show how important a detailed study of independent chronological tie points is for synchronizing different records and to highlight asynchronisms of climate events