New locus for autosomal dominant stargardt-like disease maps to chromosome 4

Journal ArticleStargardt disease (STGD) is the most common hereditary macular dystrophy and is characterized by decreased central vision, atrophy of the macula and underlying retinal-pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. STGD is most commonly inherited as an autosomal recessive trait, but many families have been described in which features of the disease are transmitted in an autosomal dominant manner. A recessive locus has been identified on chromosome 1p (STGD1), and dominant loci have been mapped to both chromosome 13q (STGD2) and chromosome 6q (STGD3). In this study, we describe a kindred with an autosomal dominant Stargardt-like phenotype. A genomewide search demonstrated linkage to a locus on chromosome 4p, with a maximum LOD score of 5.12 at a recombination fraction of.00, for marker D4S403. Analysis of extended haplotypes localized the disease gene to an approximately 12-cM interval between loci D4S1582 and D4S2397. Therefore, this kindred establishes a new dominant Stargardt-like locus, STGD4

Fibrin-Mediated Delivery of an Ovarian Follicle Pool in a Mouse Model of Infertility

The cryopreservation and autotransplantation of ovarian tissue is emerging as a powerful approach for preserving fertility. However, for cancer patients, it may not be possible to transplant ovarian tissue due to the risk of re-seeding disease. We investigated strategies for transplantation of individually isolated follicles to minimize the risk of re-introducing cancer cells present within the vasculature of ovarian stroma. Procedures for large-scale isolation of early-stage follicles and their encapsulation into fibrin hydrogels were developed. For in vivo validation studies, mice were ovariectomized and transplanted with encapsulated follicles into the ovarian bursa. A substantial increase in the number of secondary follicles was observed in the graft at 9 days after transplantation, and antral follicles by day 21, demonstrating primordial follicle recruitment into the growing pool. Initially, elevated follicle-stimulating hormone levels declined substantially by day 21, indicating feedback from the graft; presence of corpora lutea showed the graft's capability of restoring hormone cyclicity. Taken together, the transplanted follicles were able to engraft, mature, and restore ovarian function in an infertile mouse. This biomaterial may, thus, provide a platform for follicle transplantation with a low risk of cancer contamination and for developing strategies that preserve fertility for women facing a cancer diagnosis.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/140230/1/ten.tea.2013.0675.pd

Fabrication of a Hybrid Microfluidic System Incorporating both Lithographically Patterned Microchannels and a 3D Fiber-Formed Microfluidic Network

A device containing a 3D microchannel network (fabricated using sacrificial melt-spun microfibers) sandwiched between lithographically patterned microfluidic channels offers improved delivery of soluble compounds to a large volume compared to a simple stack of two microfluidic channel layers. With this improved delivery ability comes an increased fluidic resistance due to the tortuous network of small-diameter channels.United States. Army (Engineer Research and Development Center-Construction Engineering Research Laboratory (ERDC-CERL))National Institutes of Health (U.S.) (NIH grant 5F32EB011866)National Institutes of Health (U.S.) (NIH Grant 1K99EB013630)National Institutes of Health (U.S.) (NIH NHLBI grant 1 R21 HL106585-01)National Heart, Lung, and Blood Institute (NIH NHLBI grant 1 R21 HL106585-01

Low-Surface-Brightness Galaxies in the Sloan Digital Sky Survey. I. Search Method and Test Sample

In this paper we present results of a pilot study to use imaging data from the Sloan Digital Sky Survey (SDSS) to search for low-surface-brightness (LSB) galaxies. For our pilot study we use a test sample of 92 galaxies from the catalog of Impey et al. (1996) distributed over 93 SDSS fields of the Early Data Release (EDR). Many galaxies from the test sample are either LSB or dwarf galaxies. To deal with the SDSS data most effectively a new photometry software was created, which is described in this paper. We present the results of the selection algorithms applied to these 93 EDR fields. Two galaxies from the Impey et al. test sample are very likely artifacts, as confirmed by follow-up imaging. With our algorithms, we were able to recover 87 of the 90 remaining test sample galaxies, implying a detection rate of $\sim$96.5%. The three missed galaxies fall too close to very bright stars or galaxies. In addition, 42 new galaxies with parameters similar to the test sample objects were found in these EDR fields (i.e., $\sim$47% additional galaxies). We present the main photometric parameters of all identified galaxies and carry out first statistical comparisons. We tested the quality of our photometry by comparing the magnitudes for our test sample galaxies and other bright galaxies with values from the literature. All these tests yielded consistent results. We briefly discuss a few unusual galaxies found in our pilot study, including an LSB galaxy with a two-component disk and ten new giant LSB galaxies.Comment: 36 pages, 16 figures, accepted for publication by AJ, some figures were bitmapped to reduce the siz

The effectiveness of Russian government policy to support smes in the COVID-19 pandemic

This study was aimed at developing a cognitive—econometric model for assessing the effectiveness of the current governmental policies to support enterprises in Russia in the context of pandemic propagation. Using the Granger test and correlation analysis, we formed a system of key indicators that characterizes the economic development of SMEs (small and medium-sized enterprises) in Russia. Based on the revealed causal relationships and correlation coefficients, a model describing the impact of public policy support instruments on SME economic development was built using cognitive modeling. By means of the additive convolution method, the correlation coefficient between the Russia Small Business Index (RSBI) and the COVID-19 prevalence rate was used to predict the 2020 year-end RSBI value. Regarding the RSBI index forecast, the effectiveness of instruments of the state support for SMEs was evaluated. It was determined how much these indicators of the anti-crisis package of measures should change to increase SMEs’ business activities. The developed cognitive model can be utilized by private and governmental institutions to continuously monitor the effectiveness of public policies that support SMEs. It can also be used as a preventive indicator to evaluate the impact of the anti-crisis measures during pandemics and in the case of other exogenous risks threatening SMEs. The originality of the research results was determined by the econometric methods applied to empirically assess the effectiveness and degree of impact of governmental measures on the operation of SMEs under conditions of uncertainty. © 2020 by the authors. Licensee MDPI, Basel, Switzerland

P-Type ATPase TAT-2 Negatively Regulates Monomethyl Branched-Chain Fatty Acid Mediated Function in Post-Embryonic Growth and Development in C. elegans

Monomethyl branched-chain fatty acids (mmBCFAs) are essential for Caenorhabditis elegans growth and development. To identify factors acting downstream of mmBCFAs for their function in growth regulation, we conducted a genetic screen for suppressors of the L1 arrest that occurs in animals depleted of the 17-carbon mmBCFA C17ISO. Three of the suppressor mutations defined an unexpected player, the P-type ATPase TAT-2, which belongs to the flippase family of proteins that are implicated in mediating phospholipid bilayer asymmetry. We provide evidence that TAT-2, but not other TAT genes, has a specific role in antagonizing the regulatory activity of mmBCFAs in intestinal cells. Interestingly, we found that mutations in tat-2 also suppress the lethality caused by inhibition of the first step in sphingolipid biosynthesis. We further showed that the fatty acid side-chains of glycosylceramides contain 20%–30% mmBCFAs and that this fraction is greatly diminished in the absence of mmBCFA biosynthesis. These results suggest a model in which a C17ISO-containing sphingolipid may mediate the regulatory functions of mmBCFAs and is negatively regulated by TAT-2 in intestinal cells. This work indicates a novel connection between a P-type ATPase and the critical regulatory function of a specific fatty acid

Traction Forces of Endothelial Cells under Slow Shear Flow

Endothelial cells are constantly exposed to fluid shear stresses that regulate vascular morphogenesis, homeostasis, and disease. The mechanical responses of endothelial cells to relatively high shear flow such as that characteristic of arterial circulation has been extensively studied. Much less is known about the responses of endothelial cells to slow shear flow such as that characteristic of venous circulation, early angiogenesis, atherosclerosis, intracranial aneurysm, or interstitial flow. Here we used a novel, to our knowledge, microfluidic technique to measure traction forces exerted by confluent vascular endothelial cell monolayers under slow shear flow. We found that cells respond to flow with rapid and pronounced increases in traction forces and cell-cell stresses. These responses are reversible in time and do not involve reorientation of the cell body. Traction maps reveal that local cell responses to slow shear flow are highly heterogeneous in magnitude and sign. Our findings unveil a low-flow regime in which endothelial cell mechanics is acutely responsive to shear stress

The Hamburg/SAO Survey for Emission--Line Galaxies. IV. The Fourth List of 119 Galaxies

We present the fourth list with results of the Hamburg/SAO Survey for Emission-Line Galaxies (HSS hereafter, SAO - Special Astrophysical Observatory, Russia). The list is a result of the follow-up spectroscopy conducted with the 6m SAO RAS telescope in 1998, 1999 and 2000. The data of this snap-shot spectroscopy survey confirmed 127 emission-line objects out of 176 observed candidates and allowed their quantitative spectral classification. We could classify 76 emission-line objects as BCG/HII galaxies or probable BCGs, 8 - as QSOs, 2 - as Seyfert galaxies, 2 - as super-associations in a subluminous spiral and an irregular galaxy, and 37 as low-excitation objects - either starburst nuclei (SBN), or dwarf amorphous nuclei starburst galaxies (DANS). We could not classify 2 ELGs. Furthermore, for 5 galaxies we did not detect any significant emission lines. For 91 emission-line galaxies, the redshifts and/or line intensities are determined for the first time. Of the remaining 28 previously known ELGs we give either improved data on the line intensities or some independent measurements. The candidates were taken from three different samples selected by different criteria. Among our first priority candidates we achieved a detection rate of emission-line objects (ELGs + QSOs) of 68%, among which 51% are BCGs. Observations of a random selected sample among our second priority candidates showed that only ~10% are BCGs. We found that the confirmed BCGs have usually a blue colour ((B-R) < 1.0) and a non-stellar appearance in the APM database. Our third sample is comprised of second priority candidates fulfilling these criteria derived from the APM. Follow-up spectroscopy of a small subsample indicates that the expected detection rate for BCGs is ~40%.Comment: 15 pages, 1 embedded figure and A1-A12(spectra), A&AS in press. PS-file of A1-A12(spectra) also available via http://precise.sao.ru/Laboratory/Publications/2000/HSSIV_figs.ps.g