Autoantibodies are powerful diagnostic tools in idiopathic inflammatory myopathies, especially for confirming the diagnosis and contributing to the definition of disease subsets. They are present in over 80 % of patients with immuno-mediated myositis and directed towards ubiquitously expressed intracellular complexes. Most of these autoantibodies are reported also in other autoimmune diseases, while some are considered myositis-specific. Myositis autoantibodies are traditionally categorized in two groups, based on their diagnostic accuracy: myositis-specific antibodies (MSA) and myositis-associated antibodies (MAA), the latter mostly occurring in myositis-overlap syndromes. Besides the so-called traditional MSA, including anti-synthetases, anti-SRP and anti-Mi-2 antibodies, additional newly conceived immune targets have been recently identified, mostly in patients with severe forms of dermatomyositis or necrotizing myopathy. They mainly encompass enzymatic proteins essentially involved in the regulation of gene transcription or post-translational modifications, i.e., TIF1-γ, NXP-2, MDA5, SAE and HMGCR. Among the MAA, anti-PM/Scl and anti-Ku characterize an overlap polydermatomyositis/systemic sclerosis syndrome with severe interstitial lung involvement.

The growing demand for precision diagnostics in cystic fibrosis and other genetic disorders, such as cancers, is driving the need for sequencing platforms that combine analytical robustness, scalability, and cost-efficiency. In this study, we performed a direct comparison between two leading Next-Generation Sequencing (NGS) platforms, MiSeq (Illumina, CA, USA) and DNBSEQ-G99RS (MGI Tech Co., Shenzhen, China), using a CE-IVD-certified CFTR panel (Devyser AB), selected for its complexity and variant spectrum, including SNVs, CNVs, and intronic polymorphisms. A total of 47 genomic DNA samples from routine clinical activity were analyzed on both platforms. Illumina sequencing covered all CFTR variants using standard workflows, while MGI data were generated from residual diagnostic DNA, with informed consent. Sequencing data were processed using Amplicon Suite v3.7.0 for variant calling, annotation, and ACMG classification. Quality control metrics and platform-specific parameters were also evaluated. Both platforms demonstrated complete concordance in variant detection, including SNVs, CNVs, and complex alleles (e.g., Poly-T/TG). Illumina exhibited slightly superior basecalling quality and allelic frequency uniformity, while MGI achieved higher sequencing depth (mean ~2793×) and demultiplexing efficiency. No false positives, false negatives, or discordant HGVS annotations were observed. The use of full-gene CFTR sequencing enabled granular and technically rigorous cross-platform validation. These findings confirm the analytical equivalence of Illumina and MGI for diagnostic genotyping. Moreover, MGI’s greater data output and flow cell capacity may offer tangible advantages in high-throughput settings, including somatic applications such as liquid biopsy and molecular oncology workflows.

Background/Objectives: Fertility preservation (FP) has become an integral component of multidisciplinary care for patients at risk of treatment- or disease-related infertility. Although several established and emerging fertility preservation strategies are currently available, important challenges remain regarding patient selection, timing of intervention, long-term reproductive outcomes, and the translation of experimental approaches into routine clinical practice. This review critically appraises the current evidence on female and male fertility preservation, highlighting established techniques, emerging technologies, unresolved clinical challenges, and future research priorities. Oocyte vitrification remains the preferred strategy for postpubertal women when ovarian stimulation is feasible, whereas ovarian tissue cryopreservation has become an established option for selected patients requiring urgent treatment or for prepubertal girls. In men, sperm cryopreservation remains the standard of care, while fertility preservation in prepubertal boys is still investigational. Despite excellent laboratory outcomes, the real-world utilization of cryopreserved reproductive material remains unexpectedly low, highlighting persistent barriers in patient referral, counselling, and long-term follow-up. Methods: A structured narrative review was conducted using PubMed/MEDLINE and Embase to identify international guidelines, systematic reviews, meta-analyses, multicentre cohorts, registry-based studies, and original clinical investigations published between January 2015 and June 2025. Evidence was synthesized according to sex, age, fertility preservation indication, and clinical applicability. Interventions reviewed include oocyte and embryo cryopreservation, ovarian tissue cryopreservation (OTC), GnRH agonist co-treatment, ovarian transposition, in vitro maturation (IVM), sperm banking, surgical sperm retrieval (SSR), testicular tissue cryopreservation (TTC), and spermatogonial stem-cell (SSC) approaches. Results: Oocyte vitrification remains the preferred strategy for postpubertal women when ovarian stimulation is feasible, whereas ovarian tissue cryopreservation has become an established option for selected patients requiring urgent treatment or for prepubertal girls. In men, sperm cryopreservation prior to therapy is standard; SSR provides sperm for selected azoospermic cases. Paediatric FP strategies are asymmetric: OTC is clinically established, while TTC remains investigational. Random-start COS and aromatase inhibitor or tamoxifen protocols minimise treatment delay and hormonal exposure, and GnRHa co-treatment can serve as an adjunctive ovarian-protective measure. Despite high laboratory success, utilisation of banked gametes and tissue is modest, underscoring the need for structured referral pathways, patient counselling, and longitudinal follow-up. Conclusions: FP should be systematically integrated into both oncological and non-oncologic care pathways, with timely referral, age- and sex-specific counselling on live-birth probabilities, and long-term follow-up. Future priorities include harmonization of clinical protocols, standardized outcome reporting, registry-based long-term follow-up, and validation of emerging technologies to improve both reproductive outcomes and equitable access to fertility preservation.

Background/Objectives: Fertility preservation (FP) spans oncological and non‑oncological indications, including gonadotoxic therapies, benign haematological/metabolic disorders, conditions at risk of premature ovarian insufficiency, severe andrological disease, and elective plans to defer childbearing. We provide a sex‑integrated overview of established and emerging FP strategies and their real‑world effectiveness [1–10]. Methods: Narrative synthesis of guidelines and high‑quality studies (to 2025), prioritising ASCO/ESHRE guidance, systematic reviews, and multicentre/registry data covering oocyte/embryo cryopreservation, ovarian tissue cryopreservation (OTC), GnRH agonists, ovarian transposition, in vitro maturation (IVM), sperm banking, surgical sperm retrieval (SSR), testicular tissue cryopreservation (TTC), and spermatogonial stem‑cell (SSC) approaches [1–10]. Results: For women, oocyte vitrification is the first‑line option when time allows; OTC is established when stimulation is infeasible or in prepubertal girls, with endocrine recovery common and increasing pregnancy/live‑birth reports. For men, sperm cryopreservation before therapy is standard; SSR supports selected cases. Paediatric TTC is feasible but remains experimental, whereas paediatric OTC is clinically implemented. Random‑start COS and letrozole/tamoxifen protocols minimise treatment delay and hormonal exposure; GnRHa co‑treatment preserves ovarian function as an adjunct. Utilisation of banked gametes/tissue remains modest, underscoring the need for pathway optimisation [1–10]. Conclusions: FP should be embedded across oncology and non‑oncology pathways with timely referral, clear counselling on probabilities of live birth, and robust follow‑up. Standardisation, registry‑based evidence and long‑term offspring safety data are priorities to bridge the gap between laboratory potential and clinical effectiveness [1–10].