Exome sequencing in genuine empty follicle syndrome: Novel candidate genes.

OBJECTIVE(S): Empty follicle syndrome (EFS) is a condition in which no oocytes are retrieved in an IVF cycle despite apparently normal follicular development and meticulous follicular aspiration following ovulation induction. The EFS is called genuine (gEFS) when the trigger administration is correct. The existence of gEFS is a subject of controversy, and it is quite rare with an undetermined etiology. Genetic defects in specific genes have been demonstrated to be responsible for this condition in some patients. Our objective was to identify novel genetic variants associated with gEFS. STUDY DESIGN: We conducted a prospective observational study including 1,689 egg donors from July 2017 to February 2023. WES were performed in patients suffering gEFS. RESULTS: Only 7 patients (0.41 %) exhibited gEFS after two ovarian stimulation cycles and we subsequently performed whole exome sequencing (WES) on these patients. Following stringent filtering, we identified 6 variants in 5 affected patients as pathogenic in new candidate genes which have not been previously associated with gEFS before, but which are involved in important biological processes related to folliculogenesis. These genetic variants included c.603_618del in HMMR, c.1025_1028del in LMNB1, c.1091-1G > A in TDG, c.607C > T in HABP2, c.100 + 2 T > C in HAPLN1 and c.3592_3593del in JAG2. CONCLUSION: As a conclusion, we identified new candidate genes related to gEFS that expand the mutational spectrum of genes related to gEFS.This study show that WES might be an efficient tool to identify the genetic etiology of gEFS and provide further understanding of the pathogenic mechanism of gEFS.

Understanding the diagnosis of catheter-related bloodstream infection: real-time monitoring of biofilm growth dynamics using time-lapse optical microscopy.

Background: The differential time to positivity (DTTP) technique is recommended for the conservative diagnosis of catheter-related bloodstream infection (C-RBSI). The technique is based on a 120-minute difference between microbial growth in blood drawn through the catheter and blood drawn through a peripheral vein. However, this cut-off has failed to confirm C-RBSI caused by Candida spp. and Staphylococcus aureus. Objective: We hypothesized that the biofilm of both microorganisms disperses faster than that of other microorganisms and that microbial load is rapidly equalized between catheter and peripheral blood. Therefore, our aim was to compare the biofilm dynamics of various microorganisms. Methods: Biofilm of ATCC strains of methicillin-resistant Staphylococcus epidermidis, methicillin-susceptible S. aureus, Enterococcus faecalis, Escherichia coli and Candida albicans was grown on silicon disks and analyzed using time-lapse optical microscopy. The time-lapse images of biofilms were processed using ImageJ2 software. Cell dispersal time and biofilm thickness were calculated. Results: The mean (standard deviation) dispersal time in C. albicans and S. aureus biofilms was at least nearly 3 hours lower than in biofilm of S. epidermidis, and at least 15 minutes than in E. faecalis and E. coli biofilms. Conclusion: Our findings could explain why early dissemination of cells in C. albicans and S. aureus prevents us from confirming or ruling out the catheter as the source of the bloodstream infection using the cut-off of 120 minutes in the DTTP technique. In addition, DTTP may not be sufficiently reliable for E. coli since their dispersion time is less than the cut-off of 120 minutes.

Self-Determined Regulation, Achievement Goals and Sport Commitment in Spanish Masters Swimmers.

This work analyses the motivational regulation, achievement goals and sport commitment of Spanish Masters swimmers, being the first study of its kind. A total of 211 (106 women and 105 men) Masters swimmers from the Federation of Castilla-La Mancha (Spain) aged between 20 and 74 participated. Each participant completed the Sport Motivation Scale (motivation regulation), the Achievement Goals Questionnaire for Sport (achievement goals) and the Sport Commitment Questionnaire (sport commitment), all validated for the Spanish population. A mixed rANOVA was performed to analyse the results, using sex and age group as covariates, and the different groupings of the sample (weekly training days, weekly training hours and practice of other sports) as between-participants factors. The results showed that the participants presented a predominantly intrinsic-integrated and identified regulation, rather than introjected and external regulation. Mastery goals were more prevalent than performance-approach and performance-avoidance goals. In addition, current sport commitment was high, being greater than future commitment. Pearson's correlation analysis showed moderate relationships between our variables. We found no influence of either the covariates of sex and age or the grouping variables. These findings serve as the basis for further study of the motivation of Masters swimmers in Spain.

Adaptation of the SAGEFS scale on attitudes toward gender equality in football in the international school context.

The objective of the present study is to evaluate the psychometric properties of the Scale of Attitudes toward Gender Equality in Football in the Context of Schools (SAGEFS) in the international context. This sample was formed by N = 6,101 students. The study was conducted by applying the SAGEFS. The model of the three factors correlated in the complete sample and for each country was correlated using AFC. The structural model was appraised by employing eight indices: the relative Chi-squared index; the goodness of fit index and its adjusted formula; the normal fit index; the comparative fit index; the standardized Quadratic Mean; and the Quadratic Mean Error of Approximation. To conclude, the results evidence the presence of psychometric properties that are indispensable for the measurement of attitudes toward gender equality in the context of schools.

Evaluation of a Program of Aquatic Motor Games in the Improvement of Motor Competence in Children from 4 to 5 Years Old.

The present study aimed to verify whether a program of initiation to the aquatic environment composed of motor games (motor stories, learning environments and motor circuits) is more effective in the acquisition of aquatic skills in early childhood education than a traditional program. For this purpose, the Escala de Competencia Motriz Acuática for 4-5 year-old children was used before and after both programs. This scale has two factors, one named Familiarization, linked to more elementary aquatic abilities, and the Immersion factor, which integrates more advanced aquatic abilities. The two programs were used as independent variables, and there was a sample of 17 children over six weeks. The results show that both programs improved the acquisition of aquatic skills. The program that integrated motor games impacted the improvement of skills related to the Immersion factor significantly more.

Flexible graphene photodetectors for wearable fitness monitoring.

Wearable health and wellness trackers based on optical detection are promising candidates for public health uses due to their noninvasive tracking of vital health signs. However, so far, the use of rigid technologies hindered the ultimate performance and form factor of the wearable. Here, we demonstrate a new class of flexible and transparent wearables based on graphene sensitized with semiconducting quantum dots (GQD). We show several prototype wearable devices that are able to monitor vital health signs noninvasively, including heart rate, arterial oxygen saturation (SpO2), and respiratory rate. Operation with ambient light is demonstrated, offering low-power consumption. Moreover, using heterogeneous integration of a flexible ultraviolet (UV)-sensitive photodetector with a near-field communication circuit board allows wireless communication and power transfer between the photodetectors and a smartphone, offering battery-free operation. This technology paves the way toward seamlessly integrated wearables, and empowers the user through wireless probing of the UV index.

Gallium plasmonic nanoparticles for label-free DNA and single nucleotide polymorphism sensing.

A label-free DNA and single nucleotide polymorphism (SNP) sensing method is described. It is based on the use of the pseudodielectric function of gallium plasmonic nanoparticles (GaNPs) deposited on Si (100) substrates under reversal of the polarization handedness condition. Under this condition, the pseudodielectric function is extremely sensitive to changes in the surrounding medium of the nanoparticle surface providing an excellent sensing platform competitive to conventional surface plasmon resonance. DNA sensing has been carried out by immobilizing a thiolated capture probe sequence from Helicobacter pylori onto GaNP/Si substrates; complementary target sequences of Helicobacter pylori can be quantified over the range of 10 pM to 3.0 nM with a detection limit of 6.0 pM and a linear correlation coefficient of R(2) = 0.990. The selectivity of the device allows the detection of a single nucleotide polymorphism (SNP) in a specific sequence of Helicobacter pylori, without the need for a hybridization suppressor in solution such as formamide. Furthermore, it also allows the detection of this sequence in the presence of other pathogens, such as Escherichia coli in the sample. The broad applicability of the system was demonstrated by the detection of a specific gene mutation directly associated with cystic fibrosis in large genomic DNA isolated from blood cells.

Immunosensing platform based on gallium nanoparticle arrays on silicon substrates.

Gallium nanoparticles (GaNPs) of different sizes are deposited on Si(100) substrates by thermal evaporation. Through ellipsometric analysis, it is possible to investigate the plasmonic effects in the GaNPs and exploit them to develop biosensors. The excitation of the resonant modes for certain incidence angles leads to negative values of the imaginary part of the pseudodielectric function (<εi>) obtained in ellipsometry. Furthermore, there is an abrupt sign change when the difference between the phase shifts of p- and s-polarization components reaches 180° at an energy of around 3.15 eV. At that energy, reversal of the polarization handedness (RPH) occurs for an elliptically-polarized input beam. The energy of the RPH condition reduces as the evaporation time increases. The slope of <εi> at the RPH condition is extremely sensitive to changes in the surrounding medium of the NP surface and prompts the use of the GaNP/Si system as sensor platform. Fourier transformed infrared spectroscopy (FTIR) is used before and after functionalization with 3,3'-dithiodipropionic acid di(N-succinimidyl ester) and a glutathione-specific antibody to confirm the chemical modification of the sample surface. The developed immunosensor is exposed to different concentrations of glutathione (GSH) showing a linear relationship between the slope of the pseudodielectric function at the RPH condition and the GSH concentration. The immunosensor shows a limit of detection of 10nM enabling its use for the detection of low GSH levels in different medical conditions.

Glutathione immunosensing platform based on total internal reflection ellipsometry enhanced by functionalized gold nanoparticles.

An immunosensor to detect small molecules, such as glutathione (GSH), has been developed by combination of ellipsometry and Kretschmann surface plasmon resonance (SPR). The Au thin film used for surface plasmon polariton (SPP) excitation is functionalized with anti-GSH to specifically bind GSH. At low concentrations, the small refractive index changes caused by the low molecular weight of GSH induced only negligible shifts in the plasmon resonant energy during GSH binding. To improve sensitivity, gold nanoparticles (AuNPs) are functionalized with glutathione acting as amplifiers of the antigen-antibody interaction. Changes induced by the AuNP adsorption are monitored using Ψ and Δ ellipsometric functions. After performing competitive assays using solutions containing different concentrations of free GSH and a constant amount of functionalized AuNPs, it was concluded that the resonant energy linearly shifts as the relative concentration of free GSH increases. A detection limit for free GSH in the nanomolar range is found, demonstrating the effectiveness of AuNPs to enhance the sensitivity to immunoreactions in total internal reflection ellipsometry.

Thin film multiferroic nanocomposites by ion implantation.

Thin film multiferroic nanocomposites might enable a range of potentially disruptive integrated magnetoelectric devices for information storage, spintronics, microwave telecommunications, and magnetic sensing. With this aim, we have investigated ion implantation of magnetic species into ferroelectric single crystal targets as a radically novel approach to prepare film nanoparticulate magnetic-metal ferroelectric-oxide composites. These materials are an alternative to multiferroic oxide epitaxial columnar nanostructures that are under intensive research, but whose magnetoelectric response is far from expectations. Here, we unambiguously demonstrate the preparation of such a thin film multiferroic nanocomposite of Co and BaTiO3 by ion implantation of a high dose of the magnetic species, followed by rapid thermal processing under tailored conditions. Results thus constitute a proof of concept for the feasibility of obtaining the materials by this alternative approach. Ion implantation is a standard technique for the microelectronic industry in combination with well-established patterning procedures.