Rare genetic diseases are often caused by structural variants (SVs), such as insertions, deletions, duplications, inversions, and complex rearrangements. However, due to the technical limitations of short-read sequencing, these variants remain underdiagnosed. Long-read sequencing technologies, including Oxford Nanopore and Pacific Biosciences high-fidelity (HiFi), have recently advanced to the point that they can accurately find SVs throughout the genome, including in previously unreachable areas like repetitive sequences and segmental duplications. This study underscores the transformative role of long-read sequencing in diagnosing rare diseases, emphasizing the bioinformatics tools designed for detecting and interpreting structural variants (SVs). Comprehensive methods are reviewed, including methylation profiling, RNA-seq, phasing analysis, and long-read sequencing. The effectiveness and applications of well-known tools like Sniffles2, SVIM, and cuteSV are also assessed. Case studies illustrate how this technique has revealed new pathogenic pathways and solved cases that were previously undetected. Along with outlining potential future paths like telomere-to-telomere assemblies and pan-genome integration, we also address existing issues, including cost, clinical validation, and computational complexity. For uncommon genetic illnesses, long-read sequencing has the potential to completely change the molecular diagnostic picture as it approaches clinical adoption.

Endocrine-disrupting chemicals (EDCs) are exogenous compounds that interfere with the endocrine system by mimicking or blocking the action of endogenous hormones such as estrogens, androgens, and thyroid hormones. This systematic review aims to evaluate the current epidemiological evidence linking EDC exposure with adverse reproductive outcomes in males and females of reproductive age. A total of 14 observational studies published between 2014 and 2024 were included following structured searches in PubMed, Scopus, and Google Scholar. The most commonly studied EDCs included bisphenol A (BPA), its analogs (such as bisphenol S, BPS), phthalates, parabens, per- and polyfluoroalkyl substances (PFAS), and persistent organic pollutants (POPs). The review found consistent associations between EDC exposure and multiple reproductive endpoints, such as impaired semen quality, decreased ovarian reserve, infertility, polycystic ovary syndrome (PCOS), altered hormone levels—specifically estradiol (E2), luteinizing hormone (LH), and follicle-stimulating hormone (FSH)—and adverse outcomes in assisted reproductive technologies (ART), including in vitro fertilization (IVF). Despite methodological heterogeneity, the findings support the biological plausibility of EDCs in disrupting reproductive function. The review highlights the urgent need for regulatory measures, increased public awareness, and longitudinal studies to assess the cumulative effects of chronic EDC exposure on human fertility.

Background: Perioperative care is an integral part of the procedure of a surgical operation, with strictly defined rules. The need to upgrade and improve some individual long-term processes aims at optimal patient care and the provision of high-level health services. Therefore, preoperative care is drawn up with new data resulting from the evolution of technology to upgrade the procedures that need improvement. According to the international literature, a factor considered to be of major importance is high preoperative anxiety and its effects on the patient’s postoperative course. High preoperative anxiety is postoperatively responsible for prolonged hospital stays, increased postoperative pain, decreased effect of anesthetic agents, increased amounts of analgesics, delayed healing of surgical wounds, and increased risk of infections. The use of Virtual Reality technology appears as a new method of managing preoperative anxiety. Objective: This study investigates the effect and effectiveness of Virtual Reality (VR) technology in managing preoperative anxiety in adult patients. Methods: A literature review was performed on 193 articles, published between 2017 and 2024, sourced from the scientific databases PubMed and Cochrane, as well as the trial registry ClinicalTrials, with a screening and exclusion process to meet the criterion of investigating VR technology’s effectiveness in managing preoperative anxiety in adult patients. This systematic review was conducted under the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA 2020) guidelines. Results: Out of the 193 articles, 29 were selected. All articles examined the efficacy of VR in adult patients (≥18) undergoing various types of surgery. The studies represent a total of 2.354 participants from 15 countries. There are two types of VR applications: distraction therapy and patient education. From the studies, 14 (48%) used the distraction VR intervention, 14 (48%) used the training VR intervention, and 1 (4%) used both VR interventions, using a range of validated anxiety scales such as the STAI, VAS-A, APAIS, and HADS. Among the 29 studies reviewed, 25 (86%) demonstrated statistically significant reductions in preoperative anxiety levels following the implementation of VR interventions. VR technology appears to manage preoperative anxiety effectively. It is a non-invasive and non-pharmacological intervention with minimal side effects. Conclusions: Based on the review, the management of preoperative anxiety with VR technology shows good levels of effectiveness. Further investigation of the efficacy by more studies and randomized controlled trials, with a larger patient population, is recommended to establish and universally apply VR technology in the preoperative care process as an effective method of managing preoperative anxiety.