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Down syndrome (DS) caused by a trisomy of chromosome 21 (HSA21), is the most common genetic developmental disorder, with an incidence of 1 in 800 live births. Its phenotypic characteristics include intellectual impairment, early onset of Alzheimer’s disease, congenital heart disease, hypotonia, muscle weakness and several other developmental abnormalities, for the majority of which the pathogenetic mechanisms remain unknown. Among the numerous protein coding genes of HSA21, dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1A (DYRK1A) encodes a proline-directed serine/threonine and tyrosine kinase that plays pleiotropic roles in neurodevelopment in both physiological and pathological conditions. Numerous studies point to a crucial role of DYRK1A protein for brain defects in patients with DS. Thus, DYRK1A inhibition has shown benefits in several mouse models of DS, including improvement of cognitive behaviour. Lastly, a recent clinical trial has shown that epigallocatechine gallate (EGCG), a DYRK1A inhibitor, given to young patients with DS improved visual recognition memory, working memory performance and adaptive behaviour.

Endometriosis, a chronic estrogen-dependent disorder defined by ectopic endometrial-like tissue growth, causes pelvic pain and infertility in reproductive-age women. Despite its prevalence, the underlying mechanisms driving lesion persistence and reproductive impairment remain unclear. This review synthesizes recent pathophysiological advances, highlighting how hormonal dysregulation, immune dysfunction, epigenetic alterations, and oxidative stress collectively foster lesion persistence and treatment resistance. Critically, these molecular disturbances disrupt critical reproductive functions—including oocyte quality, endometrial receptivity, and embryo implantation. We further explore emerging non-hormonal therapeutic strategies, including MAPK and PI3K/AKT inhibitors as well as epigenetic agents targeting HOXA10 methylation and microRNA modulation, which offer fertility-sparing alternatives to conventional hormonal suppression. To enhance clinical translation, we propose a multi-level prevention framework—encompassing at the primary level, risk reduction; at the secondary level, biomarker-guided intervention; and at the tertiary level, fertility preservation—to anticipate disease progression and personalize reproductive care. By delineating shared pathways between endometriosis and infertility, this work advances precision medicine approaches for affected patients.

Endometriosis, traditionally associated with cisgender women, should be recognized as a significant issue for transgender men. This perspective highlights the need to address the unique experiences and challenges faced by transgender men with endometriosis. Diagnostic difficulties arise due to hormone therapy and surgical interventions, which can alter symptoms. Limited research in transgender men undergoing hysterectomy further complicates the understanding of endometriosis in this population. Healthcare providers must be aware of these challenges and adapt the diagnostic approaches accordingly. Education and inclusive care are essential to ensure timely and appropriate management of endometriosis in transgender men, ultimately improving their quality of life.

Background: Breast-conserving surgery (BCS) is recommended for early-stage breast cancer, with the aim of removing tumors while preserving breast tissue. Achieving clear margins is crucial to minimizing re-excision and recurrence risks. The Histolog® Scanner (HS), a confocal laser microscopy device, enables real-time intraoperative margin assessments. This study describes surgeon training, HS integration into clinical practice, and its impact on surgical outcomes. Methods: One surgeon participated in an online training program related to Histolog image of breast tissue. We assessed the time and workload required for the surgeon’s training, as well as the implementation of the HS into the surgical workflow. We retrospectively analyzed patients who underwent BCS with an intraoperative margin assessment performed by the trained surgeon using HS between December 2022 and January 2025. The re-excision rate was collected, and sensitivity, specificity, accuracy, positive predictive value (PPV), and negative predictive value (NPV) were calculated using the final pathology assessment as the gold standard. Results: The surgeon completed the online training in 6 h 22 min over six days. HS integration into the routine workflow occurred smoothly. Retrospective analysis included 68 consecutive patients representing two years of clinical practice. The surgeon using the HS exhibited a sensitivity of 100%, specificity of 96.3%, accuracy of 96.9%, PPV of 85.7%, and NPV of 100%. Intraoperative HS usage eliminated re-excision in all cases. Integrating the HS into routine BCS procedures provides a highly accurate intraoperative margin assessment and significant reduction of re-excision rates.

The debate around colorectal surgery for endometriosis has been ongoing, but to date no meta-analysis has investigated the impact of the different surgical approaches on the pregnancy rate. The aim of this meta-analysis study was to determine in women with deep infiltrating rectal endometriosis, how does colorectal resection surgery compare to other surgical techniques (e.g., rectal shaving, disc excision) in terms of pregnancy rates. We searched PubMed, Web of Science, Cochrane library and Clinical Trials for relevant studies published from inception to December 2024. We performed a systematic review and meta-analysis of all English language full-text articles addressing colorectal resection compared with other management of deep infiltrating rectal endometriosis and presenting pregnancy outcomes. We included a study when it (i) provided data on surgical management (shaving, disc excision, and/or colorectal resection) and (ii) detailed the pregnancy outcomes in each subgroup. Four authors independently performed the initial search to evaluate the eligibility criteria. Four authors extracted the data and a fifth author checked this extraction. Of the 113 full-text articles assessed for eligibility, we included 13 in the meta-analysis. These studies represented a total of 3,248 patients. Pregnancy information was available for 2,131 patients: 1073 colorectal resection, 502 shaving, 172 disc excisions, and 384 other practices (expectant management). Colorectal resection was associated with a lower pregnancy rate compared with the other techniques (N = 2,131, odds ratio [OR] = 0.64 [95% confidence interval 0.52–0.79], p < 0.001, I2 = 35%). There were similar results when comparing colorectal resection with rectal shaving (N = 952, OR = 0.51 [95% confidence interval 0.36–0.73], p < 0.001, I2 = 0%), but not when comparing colorectal resection with disc excision (N = 432, OR = 0.65 [95% confidence interval 0.37–1.13], p = 0.13). Conclusions Rectal resection for endometriosis is associated with a lower pregnancy rate compared with other type of surgery, such as shaving. Trial registration: PROSPERO registration number CRD42024512328.

Endometriosis impairs the quality of life (QoL) of many women, including their social relationships, daily activity, productivity at work, and family planning. The aim of this review was to determine the instruments used to examine QoL in previous clinical studies of endometriosis and to evaluate the effect of medical and surgical interventions for endometriosis on QoL. We conducted a systematic search and review of studies published between January 2010 and December 2020 using MEDLINE. Search terms included “endometriosis” and “quality of life.” We only selected studies that used a standardized questionnaire to evaluate QoL before and after medical or surgical interventions. Only articles in the English language were examined. The initial search identified 720 results. After excluding duplicates and applying inclusion criteria, 37 studies were selected for analysis. We found that the two scales most frequently used to measure QoL were the Short Form-36 health survey questionnaire (SF-36) and the Endometriosis Health Profile-30 (EHP-30). Many medical and surgical treatments demonstrated comparable benefits in pain control and QoL improvement. There is no clear answer as to what is the best treatment for improving QoL because each therapy must be personalized for the patient and depends on the woman’s goals. In conclusion, women must be informed about endometriosis and given easily accessible information to improve treatment adherence and their QoL.

Infertility affects around 10–15% of couples worldwide, out of which male factor contributes to 30–50% of cases of infertility. Oxidative stress, which corresponds to an imbalance between antioxidant capacities and reactive oxygen species, is considered a leading cause of male infertility. Therefore, the ability to monitor antioxidant capacity in seminal fluid is critical as it sustains free radical balance in the sperm. Most currently available methods to assess antioxidant capacity in seminal fluid are time-consuming, require specialized equipment, or are not easily implemented in clinical routine practice. Here, we evaluate the applicability of an electrochemical approach to determine the antioxidant capacity of human seminal fluid. We show that the results of this electrochemical approach are comparable to those of two reference methods for evaluating free radical scavenging activity, namely 2,20-azino-bis-3-ethylbenzothiazoline-6-sulfonic acid (ABTS) and 2,2-diphenyl-1-picrylhydrazyl (DPPH), when measuring the antioxidant capacity of seminal plasma or antioxidant molecules such as 6-hydroxy-2,5,7,8-tetramethylchromane-2-carboxylic acid (Trolox), ascorbic acid, and uric acid. Furthermore, we demonstrate the applicability of the method for the assessment of the antioxidant capacity of seminal fluid isolated from 30 normozoospermic patients (528.2 ± 142 nW). Further analysis demonstrates a positive correlation between the antioxidant capacity measured through the electrochemical approach and sperm concentration. Overall, this electrochemical approach provides a fast and accurate assessment of total antioxidant capacity in human seminal fluid. It may be implemented as a complementary tool in the routine evaluation of male infertility.

Down syndrome (trisomy 21) is the most common viable chromosomal disorder with intellectual impairment and several other developmental abnormalities. Here, we report the generation and characterization of induced pluripotent stem cells (iPSCs) derived from monozygotic twins discordant for trisomy 21 in order to eliminate the effects of the variability of genomic background. The alterations observed by genetic analysis at the iPSC level and at first approximation in early development illustrate the developmental disease transcriptional signature of Down syndrome. Moreover, we observed an abnormal neural differentiation of Down syndrome iPSCs in vivo when formed teratoma in NOD‐SCID mice, and in vitro when differentiated into neuroprogenitors and neurons. These defects were associated with changes in the architecture and density of neurons, astroglial and oligodendroglial cells together with misexpression of genes involved in neurogenesis, lineage specification and differentiation. Furthermore, we provide novel evidence that dual‐specificity tyrosine‐( Y )‐phosphorylation regulated kinase 1 A ( DYRK1A ) on chromosome 21 likely contributes to these defects. Importantly, we found that targeting DYRK1A pharmacologically or by shRNA results in a considerable correction of these defects. Synopsis The generation and characterization of iPSCs from monozygotic twins discordant for trisomy 21 allows studying Down syndrome early embryonic development and pathogenesis. DYRK1A inhibition is further shown with therapeutic potentials for DS patients. A cellular model of the neurodevelopmental defects in Down syndrome using iPSCs derived from monozygotic twins discordant for trisomy 21 has been created. The transcriptional signature of DS‐iPSCs has been established. DS‐iPSCs were shown to exhibit a reduced neurogenesis and increased astroglial and oligodendroglial cell population upon neural induction into NPCs and neuronal differentiation. Both proliferation deficit and increased apoptosis were found in NPCs along with a reduced dendritic and synaptic development in neurons derived from DS‐iPSCs. Targeting DYRK1A gene expression and protein activity using shRNA silencing or pharmacological means was shown to correct these defects likely through REST/NRSF, WNT and NOTCH signaling. Graphical Abstract The generation and characterization of iPSCs from monozygotic twins discordant for trisomy 21 allows studying Down syndrome early embryonic development and pathogenesis. DYRK1A inhibition is further shown with therapeutic potentials for DS patients.

Long COVID conditions entail the persistence of COVID-19-related symptoms for at least eight weeks following SARS-CoV-2 infection. The prevalence of long COVID is estimated to range from 10 to 30% among individuals infected with SARS-CoV-2. Despite its growing impact on healthcare systems, long COVID remains poorly understood. In parallel, endometriosis, a chronic inflammatory condition affecting around 10% of reproductive-age women, is marked by symptoms such as pelvic pain and infertility. The aim of this study was to assess the association between endometriosis and long COVID. We performed a systematic review of long COVID among endometriosis patients in Pubmed/Medline, Cochran Library and Science Direct databases from inception to August 2023. We independently selected studies, extracted data, assessed risk of bias, and compared endometriosis versus non endometriosis patients for long. Pooled analyses were based on random-effect models, and the I 2 statistic was used to quantify heterogeneity across studies. A total of 2 cross-sectional studies ( N  = 216,095 participants) were included. The pooled analysis comparing endometriosis to non-endometriosis patients significantly showed association for long COVID (pooled RR = 1.41 [1.31–1.52], I 2  = 29%, p  < 0.001). Women, who are disproportionately affected by long COVID, particularly those with endometriosis, may face compounded health challenges. While our findings suggest a possible association between endometriosis and long COVID, the evidence is currently limited to two observational studies. Further research involving diverse populations and robust study designs is needed to confirm this relationship and clarify underlying mechanisms.