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Background: In women with recurrent miscarriages, up to 50 % of those cases remain unexplained. In this study, we evaluated the impact of Cytosine/Guanine/Guanine (CGG) trinucleotide expansions of the fragile-X mental retardation 1 (FMR1) gene in women with unexplained recurrent miscarriages. Methods: This is a prospective case-control pilot study involving 49 women with unexplained recurrent miscarriages and 49 age-matched controls with documented fertility. The case group consisted of women with a history of two or more consecutive miscarriages, in whom no known factor could be identified. The maximum age of recruitment was 40 years. We obtained blood samples that were checked, using polymerase chain reaction with electrophoresis, for the presence of expanded alleles of the FMR1 gene. We further evaluated using sequencing analysis, those women marked as positive. We set the limit at more than 40 repeats. Results: The repeat sizes of CGG expansion in the FMR1 gene differ significantly in the two population groups (p =0.027). We found four women in the miscarriage group and one in the control group positive for carrying premutation alleles (Odds ratio: 4.267, confidence interval: 0.459-39.629). All the positive cases involved intermediate zone carriers. We found no association between the number of abortions each woman had, and her respective CGG repeat number (p =0.255). Conclusions: Many couples are desperately looking for the cause of their recurrent miscarriage suffering. The CGG expanded allele of the FMR1 gene is possibly to be blamed in some of these cases. More studies are needed to support the results of this prototype study. HIPPOKRATIA 2018, 22(3): 132-136.

Diffuse optical tomography is an emerging biomedical imaging technique, due to its numerous advantages, such as low cost and non-ionizing radiation. In this work, we have developed a very simple setup, which included a single source - photodiode (SP) pair for scanning a sample of water with diluted Intralipid, simulating a biological tissue. LEDs emitting at 470, 525 and 624 nm, as well as a 650 nm Fabry Perot laser, were used as light sources. Scattered light from the sample was detected by the photodiode placed next to the LED. The SP distance could vary and the phantom could be scanned by moving the SP pair in precise, small and automated steps without any intervention during the measurements. Therefore, we obtained measurements from multiple locations on the sample, with just one SP pair. The presented experimental system verified the feasibility of deploying extremely low cost devices for detection and imaging absorbing objects of 1 cm height, placed inside a scattering medium. Maximum depth detection was 2.5 cm. As expected, the quality of the obtained images was degrading, as the object's depth or the scanning step was increasing. Additionally, we developed Monte Carlo simulations of the setup, which achieved good agreement with the experimental results. We also conducted another set of simulations, studying the depth sensitivity of a single static SP pair considering a scattering medium similar to the experimental phantom with and without object. We observed that the depth sensitivity increases as the source wavelength increases from 450 nm to 650 nm.

The fundamental properties of free space optical channels in the ultraviolet (UV) spectral range between 200 and 280 nm are the enhanced scattering and the solar blind operation. Exploiting these properties, point-to-point links in a non-line-of-sight (NLOS) regime were experimentally tested and the performance of pulse position modulation of fourth order (4-PPM) and flip-orthogonal frequency division multiplexing (Flip-OFDM) modulation formats was evaluated. At the transmitting side, light-emitting diodes (LEDs) emitting at 265 nm were used. At the receiving side, a photo-multiplier tube was combined with an optical filter. Distances up to 20 m were covered and kilobits/s rates were applied. The performance was also evaluated after modifying artificially the atmospheric conditions by the operation of a fog machine. In short, 4-PPM outperformed Flip-OFDM, whereas a medium that offers enriched scattering due to fog may boost the performance of short-range NLOS links in the UV spectral range. © 1989-2012 IEEE.

The development of oncoretrovirus vectors for human γ-globin has been hampered by problems of low expression and gene silencing. In order to address these problems, we investigated an enhancer element identified from individuals with deletional hereditary persistence of fetal hemoglobin 2 (HPFH2), a genetic condition characterized by elevated levels of γ-globin in adults. Plasmid transfection studies in erythroid MEL (murine erythroleukemia) cells demonstrated the HPFH2 element could function synergistically with the β-globin locus control region to enhance the expression of an Aγ-globin gene with a truncated -382bp promoter. A series of oncoretrovirus vectors were subsequently generated that contain an expression cassette for Aγ-globin linked to various combinations of the HPFH2 enhancer, the α-globin HS40 enhancer, and several versions of the promoter from Aγ-globin or β-globin. Expression analysis in transduced MEL cell clones revealed very high levels of promoter-autonomous silencing that was at least partially abrogated by the HPFH2 enhancer. The vector containing a combination of a -201 bp Aγ-globin gene promoter with the Greek HPFH -117 point mutation and both the HPFH2 and HS40 enhancers exhibited no signs of vector silencing and was expressed at 248 ± 99% per copy of mouse α-globin (62% of total α-globin). This represents a significant improvement over previously reported oncoretrovirus vectors for Aγ-globin, and demonstrates the capacity of the HPFH2 enhancer to abrogate sequence-autonomous silencing of the Aγ-globin promoter in the context of a gene transfer vector. © 2005 Nature Publishing Group All rights reserved.