Abstract-This paper presents a new supervised method for blood vessel detection in digital retinal images. This method uses a neural network (NN) scheme for pixel classification and computes a 7-D vector composed of gray-level and moment invariants-based features for pixel representation. The method was evaluated on the publicly available DRIVE and STARE databases, widely used for this purpose, since they contain retinal images where the vascular structure has been precisely marked by experts. Method performance on both sets of test images is better than other existing solutions in literature. The method proves especially accurate for vessel detection in STARE images. Its application to this database (even when the NN was trained on the DRIVE database) outperforms all analyzed segmentation approaches. Its effectiveness and robustness with different image conditions, together with its simplicity and fast implementation, make this blood vessel segmentation proposal suitable for retinal image computer analyses such as automated screening for early diabetic retinopathy detection.

Abstract-Optic disc (OD) detection is an important step in developing systems for automated diagnosis of various serious ophthalmic pathologies. This paper presents a new template-based methodology for segmenting the OD from digital retinal images. This methodology uses morphological and edge detection techniques followed by the Circular Hough Transform to obtain a circular OD boundary approximation. It requires a pixel located within the OD as initial information. For this purpose, a location methodology based on a voting-type algorithm is also proposed. The algorithms were evaluated on the 1200 images of the publicly available MESSIDOR database. The location procedure succeeded in 99% of cases, taking an average computational time of 1.67 s. with a standard deviation of 0.14 s. On the other hand, the segmentation algorithm rendered an average common area overlapping between automated segmentations and true OD regions of 86%. The average computational time was 5.69 s with a standard deviation of 0.54 s. Moreover, a discussion on advantages and disadvantages of the models more generally used for OD segmentation is also presented in this paper.

The correction of disease-causing mutations in human embryos could reduce the burden of inherited genetic disorders in the fetus and newborn, and improve the efficiency of fertility treatments for couples with disease-causing mutations in lieu of embryo selection. Here we evaluate the repair outcomes of a Cas9-induced double-strand break (DSB) introduced on the paternal chromosome at the EYS locus, which carries a frame-shift mutation causing blindness.We show that the most common repair outcome is microhomology-mediated end joining, which occurs during the first cell cycle in the zygote, leading to embryos with non-mosaic restoration of the reading frame. However, about half of the breaks remain unrepaired, resulting in an undetectable paternal allele and, upon entry into mitosis, loss of one or both chromosomal arms. Thus, Cas9 allows for the modification of chromosomal content in human embryos in a targeted manner, which may be useful for the prevention of trisomies.

An algorithm assessing the methylation levels of 353 informative CpG sites in the human genome permits accurate prediction of the chronologic age of a subject. Interestingly, when there is discrepancy between the predicted age and chronologic age (age acceleration or “AgeAccel”), patients are at risk for morbidity and mortality. Identification of infertile patients at risk for accelerated reproductive senescence may permit preventative action. This study aimed to assess the accuracy of the “epigenetic clock” concept in reproductive age women undergoing fertility treatment by applying the age prediction algorithm in peripheral (white blood cells [WBCs]) and follicular somatic cells (cumulus cells [CCs]), and to identify whether women with premature reproductive aging (diminished ovarian reserve) were at risk of AgeAccel in their age prediction. Results indicated that the epigenetic algorithm accurately predicts age when applied to WBCs but not to CCs. The age prediction of CCs was substantially younger than chronologic age regardless of the patient’s age or response to stimulation. In addition, telomeres of CCs were significantly longer than that of WBCs. Our findings suggest that CCs do not demonstrate changes in methylome-predicted age or telomere-length in association with increasing female age or ovarian response to stimulation.

Preimplantation genetic testing for polygenic disease risk (PGT-P) represents a new tool to aid in embryo selection. Previous studies demonstrated the ability to obtain necessary genotypes in the embryo with accuracy equivalent to in adults. When applied to select adult siblings with known type I diabetes status, a reduction in disease incidence of 45–72% compared to random selection was achieved. This study extends analysis to 11,883 sibling pairs to evaluate clinical utility of embryo selection with PGT-P. Results demonstrate simultaneous relative risk reduction of all diseases tested in parallel, which included diabetes, cancer, and heart disease, and indicate applicability beyond patients with a known family history of disease.

Preimplantation genetic testing for aneuploidy (PGT-A) reduces miscarriage risk, increases the success of IVF, shortens time to pregnancy, and reduces multiple gestation rates without compromising outcomes. The progression of PGT-A has included common application of next-generation sequencing (NGS) from single nucleotide polymorphism microarray, quantitative real-time PCR, and array comparative hybridization platforms of analysis. Additional putative advances in PGT-A capability include classifying embryos as mosaic and predicting the presence of segmental imbalance. A critical component in the process of technical validation of these advancements involves evaluation of concordance between reanalysis results and initial testing results. While many independent studies have investigated the concordance of results obtained from the remaining embryo with the original PGT-A diagnosis, compilation and systematic analysis of published data has not been performed. Here, we review results from 26 primary research articles describing concordance in 1271 human blastocysts from 2260 pairwise comparisons. Results illustrate significantly higher discordance from PGT-A methods which utilize NGS and include prediction of mosaicism or segmental imbalance. These results suggest caution when considering new iterations PGT-A.

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This paper describes MediNet, a mobile healthcare system that is being developed to personalize the self-care process for patients with both diabetes and cardiovascular disease. These two diseases were chosen based on their interrelationship. Patients with diabetes are at least twice as likely to have heart disease or a stroke as compared to persons without diabetes. Furthermore, persons with diabetes also tend to develop heart disease or have strokes at an earlier age than other people. MediNet uses a reasoning engine to make recommendations to a patient based on current and previous readings from monitoring devices connected to the patient and on information that is known about the patient. It caters for the uniqueness of each patient by personalizing its recommendations based on individual level characteristics of the patient, as well as on characteristics that groups of patients tend to share.