A pilot study of transcriptomic preimplantation genetic testing (PGT-T): towards a new step in embryo selection?

Study Question: Is it possible to predict an euploid chromosomal constitution and identify a transcriptomic profile compatible with extended embryonic development from RNA sequencing (RNA-Seq) data?

Summary Answer: It has been possible to obtain a karyotype comparable to preimplantation genetic testing for aneuploidy (PGT-A), in addition to a transcriptomic signature of embryos which might be suggestive of improved implantation capacity.

What Is Known Already: Conventional assessment of embryo competence, based on morphology and morphokinetic, lacks knowledge of molecular aspects and faces controversy in predicting ploidy status. Understanding the embryonic transcriptome is crucial, as gene expression influences development and implantation.

Machine learning tool for predicting mature oocyte yield and trigger day from start of stimulation: towards personalized treatment.

Research Question: Can machine learning tools predict the number of metaphase II (MII) oocytes and trigger day at the start of the ovarian stimulation cycle?

Design: A multicentre, retrospective study including 56,490 ovarian stimulation cycles (primary dataset) was carried out between 2020 and 2022 for analysis and feature selection. Of these, 13,090 were used to develop machine learning models for trigger day and the number of MII prediction, and another 5103 ovarian stimulation cycles (clinical validation dataset) from 2023 for clinical validation. Machine learning algorithms using deep learning were developed using optimal features from the primary dataset based on correlation.

Associations between antidiabetic medications and cerebrospinal fluid biomarkers of Alzheimer's disease.

Background: It has been hypothesized that insulin resistance is pivotal in mediating amyloid and tau dysregulations in Alzheimer's disease (AD).

Objective: To investigate the impact of different antidiabetic agents, their daily dosage intake, and treatment duration on cerebrospinal fluid (CSF) AD biomarkers among patients with type 2 diabetes.

Methods: This cross-sectional study selected patients between 50 and 80 years with diabetes and CSF AD biomarkers screened between 2017 and 2023 in the VALCODIS Cohort.

An Analysis of the Digestive and Reproductive Tract Microbiota in Infertile Women with Obesity.

Previous studies have linked the microbiome of distinct body habitats to obesity and infertility; however, the often-divergent results observed have left the role of the so-called "second genome" in obese infertile patients incompletely explored. Here, we present a prospective observational multicenter study of oral, gut, endometrial, and vaginal microbiota of infertile patients classified according to BMI. Patients collected saliva/fecal samples, while vaginal/endometrial fluid samples were collected in the clinic.

The Impact of Complementary Feeding on Fecal Microbiota in Exclusively Breast-Fed Infants with Cystic Fibrosis (A Descriptive Study).

Background/objectives: Early life gut microbiota plays a pivotal role in shaping immunity, metabolism, and overall health outcomes. This is relevant in healthy infants but may be even more crucial in infants with chronic devastating diseases, such as cystic fibrosis (CF). While the introduction of solid foods in healthy infants modifies the composition of colonic microbiota, less knowledge is available on those with CF.

The good, the bad, and the hazardous: comparative genomic analysis unveils cell wall features in the pathogen Candidozyma auris typical for both baker's yeast and Candida.

The drug-resistant pathogenic yeast Candidozyma auris (formerly named Candida auris) is considered a critical health problem of global importance. As the cell wall plays a crucial role in pathobiology, here we performed a detailed bioinformatic analysis of its biosynthesis in C. auris and related Candidozyma haemuli complex species using Candida albicans and Saccharomyces cerevisiae as references.

Injectable cell-laden gelatin-chondroitin sulphate hydrogels for liver in vitro models.

Liver extracellular matrix-based models that precisely reproduce liver physiology and functions are required as 3D culture microenvironments for multiple applications in toxicology and metabolism, or for understanding the mechanisms implicated in liver disease. We introduced injectable gelatin-chondroitin sulphate (Gel/CS) hydrogels for culturing HepG2 cells, and evaluated the mechanical properties and functionality of cells in different Gel/CS compositions. The Gel/CS hydrogels exhibited soft mechanical properties and allowed the HepG2 culture.

Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome.

Exploring non-coding regions is increasingly gaining importance in the diagnosis of inherited retinal dystrophies. Deep-intronic variants causing aberrant splicing have been identified, prompting the development of antisense oligonucleotides (ASOs) to modulate splicing. We performed a screening of five previously described deep-intronic variants among monoallelic patients with Usher syndrome (USH) or isolated retinitis pigmentosa.

Evaluating the Screening Capability of the SarQoL Questionnaire in Sarcopenic Obesity: A Comparison Study Between Spanish and Belgian Community-Dwelling Older Adults.

Background/objectives: This study aims to evaluate the potential of the SarQoL questionnaire as a screening tool for sarcopenic obesity by comparing its effectiveness in Spanish and Belgian community-dwelling older people. This research seeks to address the primary question of whether the SarQoL can reliably differentiate quality of life impacts between these groups.

Methods: A cross-sectional study was conducted involving community-dwelling older adults from Valencia (Spain) and Liège (Belgium).

Molecular Insights into Radiation Effects and Protective Mechanisms: A Focus on Cellular Damage and Radioprotectors.

Ionizing radiation has been a critical tool in various fields, such as medicine, agriculture, and energy production, since its discovery in 1895. While its applications-particularly in cancer treatment and diagnostics-offer significant benefits, ionizing radiation also poses risks due to its potential to cause molecular and cellular damage. This damage can occur through the direct ionization of biological macromolecules, such as deoxyribonucleic acid (DNA), or indirectly through the radiolysis of water, which generates reactive oxygen species (ROS) that further damage cellular components.

Global change, climate change, and asthma in children: Direct and indirect effects - A WAO Pediatric Asthma Committee Report.

The twenty-first century has seen a fundamental shift in disease epidemiology with anthropogenic environmental change emerging as the likely dominant factor affecting the distribution and severity of current and future human disease. This is especially true of allergic diseases and asthma with their intimate relationship with the natural environment. Climate change-related variables including increased ambient temperature, heat waves, extreme weather events, air pollution, and rainfall distribution, all can affect asthma in children, but each of these variables also affects asthma via alterations in pollen production and release, outdoor allergen exposure or the microbiome.

Circulating extracellular vesicles in sera of chronic patients as a method for determining active parasitism in Chagas disease.

Background: Chagas disease, once restricted mainly to the Americas, Chagas disease has become a global health problem due to migration from endemic to non-endemic areas. In non-endemic regions, transmission is limited to vertical transmission from infected mothers to newborns or through blood and organ donations. A major challenge in the management of the disease lies in the diagnosis of chronic cases, as blood-borne parasites are often absent and antibodies persist for life, complicating the evaluation of treatment.

Clinical trajectories of patients with multiple sclerosis from onset and their relationship with serum neurofilament light chain levels.

Background: Serum neurofilament light chain (sNfL) is a biomarker of neuroaxonal destruction that correlates with acute inflammation (AI) in multiple sclerosis (MS). However, in the treatment era, progression without AI is the main driver of long-term disability. sNfL may provide added value in detecting ongoing axonal damage and neurological worsening in patients without AI.

Boosting miniaturization in clinical analysis: determination of bisphenols in human serum and urine by miniaturized stir bar sorptive dispersive microextraction.

In this work, a miniaturized and sustainable method for the determination of endocrine-disrupting bisphenols in human serum and urine employing the miniaturized stir bar sorptive dispersive microextraction (mSBSDME) approach has been developed. As bisphenols are conjugated in the human body to their glucorinated and sulfated forms, an enzymolysis employing a commercial mixture of β-glucuronidase and arylsulfatase was carried out prior to the microextraction procedure to determine their total content. A magnetic covalent organic framework (COF) was employed as the sorbent to carry out the extraction of the analytes from the biological matrixes, showing good extraction performance due to its hydrophobic, π-π, and dipole-dipole interactions with the analytes.

Cost-Utility of Real-Time Continuous Glucose Monitoring versus Self-Monitoring of Blood Glucose in People with Insulin-Treated Type 2 Diabetes in Spain.

Objective: Management of advanced type 2 diabetes (T2D) typically involves daily insulin therapy alongside frequent blood glucose monitoring, as treatments such as oral antidiabetic agents are therapeutically insufficient. Real-time continuous glucose monitoring (rt-CGM) has been shown to facilitate greater reductions in glycated hemoglobin (HbA1c) levels and improvements in patient satisfaction relative to self-monitoring of blood glucose (SMBG). This study aimed to investigate the cost-utility of rt-CGM versus SMBG in Spanish patients with insulin-treated T2D.

Impact of maternal health and stress on steroid hormone profiles in human milk: Implications for infant development.

Steroid hormones are biologically active factors in human milk (HM) that influence the physical and mental development of infants. Critically, maternal psychosocial stress has been associated with changes in HM steroid composition. This work aimed to characterize the steroid hormone profile of HM and pasteurized donor human milk (DHM) and assess the interplay between maternal physical and psychosocial status, the HM steroid profile, and infant outcomes.

Immune checkpoint inhibitors as first-line treatment for brain metastases in stage IV NSCLC patients without driver mutations.

Immune checkpoint inhibitors (ICI) therapy with or without chemotherapy has been established as the first-line treatment for patients with non-oncogene addicted advanced Non-Small Cell Lung Cancer (NSCLC). Yet some clinical settings, such as the treatment sequence in patients with brain metastases, have barely been evidenced. Although ICIs cannot directly cross the blood-brain barrier (BBB), evidence suggests that BBB damage could allow ICIs into the central nervous system, or that they can have an indirect effect on the tumor immune microenvironment (TIME) and cause an anti-tumor response.

The impact of immune dysregulation on the risk of malignancy in common variable immunodeficiency: insights from a multicenter study.

Background: Common Variable Immunodeficiency (CVID) represents a heterogenic group of primary immunodeficiencies (PID) characterized by impaired antibody production and susceptibility to infections. Non-infectious complications, such as autoimmune diseases, lymphoproliferative disorders, and malignancies, now significantly impact prognosis. Moreover, both hematologic and solid organ malignancies are more frequently observed in CVID patients compared to other PIDs.

Improving antifungal lipid-based drug delivery against : a review.

Introduction: Fungal infections, particularly those caused by spp. have increased in recent years. A primary contributor to this surge was the COVID-19 pandemic, where many hospitalized patients had secondary fungal infections.