Follicular fluid content and oocyte quality: from single biochemical markers to metabolomics

The assessment of oocyte quality in human in vitro fertilization (IVF) is getting increasing attention from embryologists. Oocyte selection and the identification of the best oocytes, in fact, would help to limit embryo overproduction and to improve the results of oocyte cryostorage programs. Follicular fluid (FF) is easily available during oocyte pick-up and theorically represents an optimal source on non-invasive biochemical predictors of oocyte quality. Unfortunately, however, the studies aiming to find a good molecular predictor of oocyte quality in FF were not able to identify substances that could be used as reliable markers of oocyte competence to fertilization, embryo development and pregnancy. In the last years, a well definite trend toward passing from the research of single molecular markers to more complex techniques that study all metabolites of FF has been observed. The metabolomic approach is a powerful tool to study biochemical predictors of oocyte quality in FF, but its application in this area is still at the beginning. This review provides an overview of the current knowledge about the biochemical predictors of oocyte quality in FF, describing both the results coming from studies on single biochemical markers and those deriving from the most recent studies of metabolomic

A 2 bp deletion in the mitochondrial ATP 6 gene responsible for the NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome

International audienceMitochondrial (mt) DNA-associated NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) syndrome is due to mutation in the MT-ATP6 gene. We report the case of a 18-year-old man who presented with deafness, a myoclonic epilepsy, muscle weakness since the age of 10 and further developed a retinitis pigmentosa and ataxia. The whole mtDNA analysis by next-generation sequencing revealed the presence of the 2 bp microdeletion m.9127-9128 del AT in the ATP6 gene at 82% heteroplasmy in muscle and to a lower load in blood (10-20%) and fibroblasts (50%). Using the patient's fibroblasts, we demonstrated a 60% reduction of the oligomycin-sensitive ATPase hydrolytic activity, a 40% decrease in the ATP synthesis and determination of the mitochondrial membrane potential using the fluorescent probe tetramethylrhodamine, ethyl ester indicated a significant reduction in oligomycin sensitivity. In conclusion, we demonstrated that this novel AT deletion in the ATP6 gene is pathogenic and responsible for the NARP syndrome

How can Interaction Data be Contextualized with Mobile Sensing to Enhance Learning Engagement Assessment in Distance Learning?

Multimodal learning analytics can enrich interaction data with contextual information through mobile sensing. Information about, for example, the physical environment, movement, physiological signals, or smart wearable usage. Through the use of smart wearables, contextual information can thus be captured and made available again to students in further processing steps so that they can reflect and annotate it. This paper describes a software infrastructure and a study design that successfully captured contextual information utilizing mobile sensing using students’ smart wearables in distance learning. In the conducted study, data was collected from the smartphones of 76 students as they self-directedly participated in an online learning unit using a learning management system (LMS) over a two-week period. During the students’ active phases in the LMS, interaction data as well as state and trait measurements were collected by the LMS. Simultaneously, hardware sensor data, app usage data, interaction with notifications, and ecological momentary assessments (EMA) were automatically but transparently collected from the students’ smartphones. Finally, this paper describes some preliminary insights from the study process and their implications for further data processing