Publications by authors named "Maria Jose Santos"
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.
Study Question: What is the transcriptomic response of human blastocysts following internalization of extracellular vesicles (EVs) secreted by the human endometrium?
Summary Answer: EVs secreted by the maternal endometrium induce a transcriptomic response in human embryos that modulates molecular mechanisms related to embryo development and implantation.
What Is Known Already: EVs mediate intercellular communication by transporting various molecules, and endometrial EVs have been postulated to be involved in the molecular regulation of embryo implantation. Our previous studies showed that endometrial EVs carry miRNAs and proteins associated with implantation events that can be taken up by human blastocysts; however, no studies have yet investigated the transcriptomic response of human embryos to this EV uptake, which is crucial to demonstrate the functional significance of this communication system.
Introduction: A pilot study was carried out to test the efficacy of the autologous mitochondrial transfer therapy (AUGMENT) technique. No improvements in pregnancy rate, development, or embryo quality were observed in the AUGMENT-treated group versus the Control group in this study. The main objective of this research is to analyze whether AUGMENT technology did have any impact on the obstetric and perinatal outcomes of pregnancies and children resulting from treated oocytes.
View Article and Find Full Text PDFObjectives: To re-evaluate cut-offs for disease activity states according to the Axial Spondyloarthritis Disease Activity Score (ASDAS), and study the impact of sex, age, calendar time, disease and symptom duration on ASDAS and ASDAS cut-offs in a large contemporary cohort.
Methods: Data from 2939 patients with axial spondyloarthritis (axSpA) starting their first tumour necrosis factor inhibitor in nine European registries were pooled and analysed. Receiver operating characteristic analyses were performed to identify cut-offs against external criteria.
Poor ovarian response (POR) patients often face the risk of not having enough competent oocytes. Then, aspirating small follicles could serve as a strategy to increase their number. Many efforts have been addressed to associate follicular size with oocyte competence, but results are controversial.
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- Interstitial lung disease (ILD) is prevalent in rheumatoid arthritis (RA) and linked to higher mortality; this study assesses antifibrotics nintedanib and pirfenidone's real-world effectiveness and safety in RA-ILD patients.
- A multicenter observational study included 40 RA-ILD patients, primarily treated with nintedanib; data on demographics, pulmonary function tests (PFTs), and adverse events (AEs) were collected and analyzed.
- Results showed that antifibrotics halted the decline in forced vital capacity (FVC) and total lung capacity (TLC) after initiation, but diffusion capacity continued to decline, with 40% of patients experiencing adverse events.
Objectives: To compare the treatment effectiveness of secukinumab in radiographic (r) versus non-radiographic (nr) axial spondyloarthritis (axSpA) patients treated in routine care across Europe.
Methods: Prospectively collected data on secukinumab-treated axSpA patients with known radiographic status were pooled from nine countries.Remission rates based on patient-reported outcomes (PROs; Numeric Rating Scale (0-10), for example, pain ≤2/Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) ≤2 and Ankylosing Spondylitis Disease Activity Score (ASDAS) inactive disease (ID) <1.
Article Synopsis
- - The study investigates the awareness of cardiovascular disease risks among patients with systemic autoimmune diseases like SSc, SLE, RA, and SS, revealing a significant gap in understanding their elevated risk levels.
- - A survey of 180 patients showed mixed perceptions about cardiovascular risk, with 56% believing they were at higher risk but only 45% recognizing their autoimmune condition's contribution to heart attack risk.
- - The research found correlations between actual cardiovascular risk and comorbidities in RA, SSc, and SS, highlighting the need for better education on these risks, particularly among SLE patients who did not show similar associations.
Cut-Offs for Disease Activity States in Axial Spondyloarthritis With Ankylosing Spondylitis Disease Activity Score (ASDAS) Based on C-Reactive Protein and ASDAS Based on Erythrocyte Sedimentation Rate: Are They Interchangeable?
J Rheumatol
July 2024
Objective: Ankylosing Spondylitis Disease Activity Score based on C-reactive protein (ASDAS-CRP) is recommended over ASDAS based on erythrocyte sedimentation rate (ASDAS-ESR) to assess disease activity in axial spondyloarthritis (axSpA). Although ASDAS-CRP and ASDAS-ESR are not interchangeable, the same disease activity cut-offs are used for both. We aimed to estimate optimal ASDAS-ESR values corresponding to the established ASDAS-CRP cut-offs (1.
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- The study looked at patients with PsA (psoriatic arthritis) who started a 2nd or 3rd TNFi (a type of medicine) and how many continued taking it after a year.
- Out of the patients studied, about 68% stayed on their 2nd TNFi and 66% on their 3rd TNFi after a year.
- The results showed that effectiveness of the new medicine depended on why they stopped taking the previous one, with better outcomes for those who stopped because the first medicine didn’t work as well after some time.
Study Question: Are there cell lineage-related differences in the apoptotic rates and differentiation capacity of human blastocysts diagnosed as euploid, mosaic, and aneuploid after preimplantation genetic testing for aneuploidy (PGT-A) based on concurrent copy number and genotyping analysis?
Summary Answer: Trophectoderm (TE) cells of mosaic and aneuploid blastocysts exhibit significantly higher levels of apoptosis and significantly reduced differentiation capacity compared to those of euploid blastocysts.
What Is Known Already: Embryos diagnosed as mosaic after PGT-A can develop into healthy infants, yet understanding the reasons behind their reproductive potential requires further research. One hypothesis suggests that mosaicism can be normalized through selective apoptosis and reduced proliferation of aneuploid cells, but direct evidence of these mechanisms in human embryos is lacking.
Background: Pain is a complex experience that interferes with the well-being of youth who experience it. We aimed to assess whether recurrent pain sites in childhood can predict later recurrent pain sites prospectively.
Methods: Pain was assessed using the Luebeck Pain Screening Questionnaire at ages 7, 10, and 13 from the Generation XXI cohort.
Antineutrophil cytoplasmic antibodies (ANCA)-associated vasculitis (AAV) is a heterogeneous group of rare diseases characterized by necrotizing inflammation predominantly of small vessels and the presence of these circulating antibodies. AAV comprises three important diseases, namely granulomatosis with polyangiitis, microscopic polyangiitis, and eosinophilic granulomatosis with polyangiitis, which affect multiple organ systems, significantly affecting patients' quality of life and survival. The diagnosis is established according to the clinical manifestations, detectable ANCA, and histopathology findings.
View Article and Find Full Text PDFPurpose: Does vitrification/warming affect the mitochondrial DNA (mtDNA) content and the gene expression profile of blastocysts?
Methods: Prospective cohort study in which 89 blastocysts were obtained from 50 patients between July 2017 and August 2018. mtDNA was measured in a total of 71 aneuploid blastocysts by means of real-time polymerase chain reaction (RT-PCR). Transcriptomic analysis was performed by RNA sequencing (RNA-seq) in an additional 8 aneuploid blastocysts cultured for 0 h after warming, and 10 aneuploid blastocysts cultured for 4-5 h after warming.
Objectives: Juvenile systemic sclerosis is a rare childhood disease. Three disease activity indices have been published for adult patients with systemic sclerosis: the European Scleroderma Study Group Index, a modified version of the European Scleroderma Study Group Index and the revised European Scleroderma Trials and Research index. The objective of this study was to determine the feasibility and performance of the three disease activity indices in a prospectively followed cohort of patients with juvenile systemic sclerosis.
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- This study aimed to evaluate how effective tumor necrosis factor inhibitors (TNFi) are for patients with axial spondyloarthritis (axSpA), focusing on those in their second or third series of TNFi treatment and why they switched medications (due to lack of efficacy or adverse events).
- Data from 12 European registries was analyzed, showing that 12-month retention rates for second and third TNFi were similar (71%), but six-month remission rates were higher for the second TNFi (23%) compared to the third (16%).
- Patients who discontinued their first TNFi due to adverse events had better remission rates on the second TNFi compared to those who switched due to lack
Article Synopsis
- The study investigates the long-term effects of delaying the start of biological disease-modifying antirheumatic drugs (bDMARDs) in patients with juvenile idiopathic arthritis (JIA) on clinical remission, physical disability, and health-related quality of life (HRQoL).
- It includes 361 adult JIA patients from a Portuguese register, categorizing them based on the time between disease onset and bDMARD initiation into three groups: ≤2 years, 2-5 years, and >5 years.
- Results indicate that starting bDMARDs more than 5 years after disease onset is linked to lower chances of achieving remission without medication, increased physical disability, poorer HRQoL scores, and more joint surgeries
Aims: To characterise the idiopathic inflammatory myopathies (IIM) module of the Rheumatic Diseases Portuguese Register (Reuma.pt/myositis) and the patients in its cohort.
Methods: Reuma.
Differences and similarities between the EULAR/ASAS-EULAR and national recommendations for treatment of patients with psoriatic arthritis and axial spondyloarthritis across Europe.
Lancet Reg Health Eur
October 2023
Article Synopsis
- This report compares treatment recommendations for two types of arthritis, PsA and axSpA, in different European countries.
- Rheumatologists from 15 countries answered a survey, showing that only a few countries fully followed the latest recommendations.
- The findings suggest that some countries might need to change their treatment guidelines to match the newer international ones better.
Article Synopsis
- The study looked at whether doing a second biopsy on embryos can help with successful IVF treatments.
- Researchers checked 18,028 embryos over several years to see how many could give clearer answers about their health.
- They found that while redoing biopsies helped find more healthy embryos, it might also lower the chances of those embryos living after being transferred.
Objectives: To compare the effectiveness of the infliximab biosimilar CT-P13 with originator infliximab over 24 months of follow-up in biological-naïve patients with rheumatoid arthritis (RA) and axial spondyloarthritis (axSpA).
Methods: Biological-naïve patients from the Rheumatic Diseases Portuguese Register (Reuma.pt), with a clinical diagnosis of RA or axSpA, who were starting either the infliximab biosimilar CT-P13 or the originator infliximab after 2014 (date of market entry of CT-P13 in Portugal), were included.
Article Synopsis
- The study investigates whether extracellular vesicles (EVs) from the maternal endometrium are absorbed by human embryos and if their miRNA contents influence implantation and early development.
- Results indicate that these EVs are taken up by human blastocysts, carrying miRNAs that play a role in implantation and embryo growth.
- The research builds on previous findings about proteins in EVs affecting endometrial receptivity and embryo implantation, highlighting a need to understand the role of their miRNA at the transcriptomic level.