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Pseudomyxoma peritonei (PMP) is a rare, progressive, slowly growing neoplastic condition which is poorly understood, with a 5-year progression-free survival rate as low as 48%. PMP is most commonly caused by appendiceal mucinous neoplasms (AMN), and understanding their genetic biology and pathogenicity may allow for the development of better novel systemic treatments to target key deleterious mutations and the implicated pathways. The primary aim of this systematic review was to identify the genetic profile of histologically confirmed human PMP or AMN samples. The secondary aim was to identify whether genetic marks could be used to predict patient survival. Ovid EMBASE, Ovid MEDLINE, PubMed, and Web of Science were searched to identify studies investigating the genetic profile of histologically-confirmed human PMP or AMN samples. We review findings of 46 studies totalling 2181 tumour samples. The most frequently identified somatic gene mutations in patients with PMP included KRAS (38–100%), GNAS (17–100%), and TP53 (5–23%); however, there were conflicting results of their effect on survival. Three studies identified molecular subtypes based on gene expression profiles classifying patients into oncogene-enriched, immune-enriched, and mixed molecular subtypes with prognostic value. This review summarises the current literature surrounding genetic aberrations in PMP and AMNs and their potential utility for targeted therapy. Given the recent advances in clinical trials to directly target KRAS and GNAS mutations in other cancers, we propose a rationale to explore these mutations in future pre-clinical studies in PMP with a view for a future clinical trial.

Papillary thyroid cancer (PTC) is the most common endocrine malignancy with a rising incidence. There is a need for a non-invasive preoperative test to enable better patient counselling. The aim of this systematic review was to investigate the potential role of circulating microRNAs (miRNAs) in the diagnosis and prognosis of PTC. A systematic literature search was performed using MEDLINE, Cochrane, and Scopus databases (last search date was December 1, 2021). Studies investigating the expression of miRNAs in the serum or plasma of patients with PTC were deemed eligible for inclusion. Among the 1,533 screened studies, 39 studies met the inclusion criteria. In total, 108 miRNAs candidates were identified in the serum, plasma, or exosomes of patients suffering from PTC. Furthermore, association of circulating miRNAs with thyroid cancer-specific clinicopathological features, such as tumor size (13 miRNAs), location (3 miRNAs), extrathyroidal extension (9 miRNAs), pre- vs. postoperative period (31 miRNAs), lymph node metastasis (17 miRNAs), TNM stage (9 miRNAs), BRAF V600E mutation (6 miRNAs), serum thyroglobulin levels (2 miRNAs), I avid metastases (13 miRNAs), and tumor recurrence (2 miRNAs) was also depicted in this study. MiRNAs provide a potentially promising role in the diagnosis and prognosis of PTC. There is a correlation between miRNA expression profiles and specific clinicopathological features of PTC. However, to enable their use in clinical practice, further clinical studies are required to validate the predictive value and utility of miRNAs as biomarkers.

Background Non-invasive biomarkers for inflammatory bowel disease (IBD) diagnosis in children are needed to reduce dependence on invasive procedures. This study examined fecal eosinophil-derived neurotoxin (fEDN), lipocalin-2 (LCN-2), and calprotectin (FC) as potential non-invasive supportive markers in pediatric IBD. Methods This case-control study included 90 participants: 30 IBD patients (12 Crohn’s disease, 18 ulcerative colitis), 30 acute diarrhea patients, and 30 healthy controls. Fecal samples were analysed for fEDN, LCN-2, and FC levels (ng/mL) using ELISA. Biomarker levels were correlated with clinical and endoscopic activity scores, and diagnostic performance was assessed using receiver operating characteristic (ROC) analysis with pairwise AUC comparisons by DeLong’s test. Results All three biomarkers were significantly elevated in IBD compared to acute diarrhea and healthy controls ( p  < 0.001). LCN-2 uniquely correlated with disease duration ( r  = 0.43, p  = 0.017) and CRP ( r  = 0.46, p  = 0.011). All markers significantly correlated with the Crohn’s Disease Activity Index, with LCN-2 showing the strongest correlation ( r  = 0.75, p  = 0.005). Only FC significantly correlated with the simple endoscopic score ( r  = 0.63, p  = 0.004). For distinguishing IBD from healthy controls, all three markers showed high diagnostic accuracy: calprotectin (AUC = 0.98), fEDN (AUC = 0.95), and LCN-2 (AUC = 0.9), with no statistically significant difference among them (DeLong’s test, all p  > 0.05). For discriminating IBD from acute diarrhea, FC demonstrated the highest specificity (90%) and overall accuracy (AUC = 0.86), while fEDN performed poorly (AUC = 0.56). All markers showed limited ability to differentiate between IBD subtypes. Conclusions In this exploratory study, fEDN, LCN-2, and FC were significantly elevated in pediatric IBD and showed variable but complementary discriminative performance across clinical comparisons, with calprotectin demonstrating the strongest overall accuracy for distinguishing IBD from acute diarrhea. LCN-2 was the only marker that correlated with disease duration, suggesting it may reflect chronic inflammatory processes. These findings support the potential utility of these biomarkers as non-invasive supportive tools in the pre-endoscopic assessment of pediatric IBD; however, formal combined-marker analyses were not performed, and the results require validation in larger prospective multicenter studies before clinical application.

This research provides the first extensive breed‑pool whole‑genome sequencing (WGS) analysis across five Egyptian sheep populations: Barki (BAR), Rahmani (RAH), their crossbred offspring (CRS), Ossimi (OSI) and Awassi (AWI). To establish a genomic atlas of the genetic architecture of production and adaptation in Egyptian sheep, providing a baseline for future candidate gene discovery and conservation strategies. Through Illumina sequencing of 120 samples, we compiled a dataset exceeding 470 Gb, with mean coverage depths spanning 24.2x to 41.3x. Variant profiling, functional annotation, KEGG pathway analysis, and independent structural variant analysis were conducted. Phenotypic data were collected and validated through qRT-PCR gene expression analysis. Variant profiling revealed between 11.9 and 17.4 million SNPs per breed after stringent filtering. Heterozygosity patterns (population‑level estimates) differed substantially between groups, recorded at 60.41% in the CRS crossbred versus 74.92-85.01% in the purebred lines. Functional annotation identified conserved enrichment related to xenobiotic detoxification and lipid metabolism. KEGG pathway analysis prioritized the PPAR signalling pathway (map03320) and fatty acid metabolism (map01212) as highly significant (p < 0.0001). Independent structural variant analysis identified distinct genomic hotspots on chromosomes 2, 6 and 18, overlapping candidate genes; FABP4, KAP cluster and MSTN implicated in the regulation of fat deposition and muscle development. Phenotypic data confirmed a high degree of breed divergence (p < 0.001). RAH and CRS individuals reached higher body condition scores (BCS 4.31‑ 4.53) and increased fat deposition, whereas BAR was significantly leaner (BCS 2.53). The highest trimmed meat yields were observed in CRS (23.95 kg) and RAH (18.40 kg) (p < 0.001), with RAH also displaying the highest intramuscular fat content at 4.20%. qRT‑PCR validation showed elevated expression of lipogenic genes (ACACA, FASN and FABP4) in fat‑tailed breeds and differential expression of myogenic regulators (MSTN and IGF‑1) correlating with muscularity variations. The current findings establish a genomic atlas for the genetic architecture of production and adaptation in Egyptian sheep, providing a baseline for future genetic and conservation strategies. Formal selection signature analyses, such as XP‑EHH and iHS are recommended for subsequent studies.

Background Postpartum depression (PPD) is categorized by the Disorders-Fifth Edition as depression that begins during pregnancy or within the first month after giving birth. Ketamine and esketamine have shown promising results in the treatment of several depressive disorders, which suggests that they may have a role in the prevention of PPD. This systematic review and meta-analysis aim to update evidence about the efficacy and safety of using ketamine and esketamine to reduce PPD incidence. Methods We searched four databases, PubMed, Scopus, Web of Science, and Cochrane, to collect relevant studies. We included studies which investigated the preventive effect of ketamine or esketamine on PPD among women after giving birth through caesarean or vaginal delivery. We extracted PPD occurrence rate, PPD score, pain score and side effects. Finally, a meta-analysis was conducted using RevMan software. Results Twenty-one eligible studies were incorporated in the current systematic review and meta-analysis involving 4,389 pregnant women. Esketamine was the intervention in 14 studies, and ketamine was used in 7 studies. In subgroup analysis, both ketamine and esketamine were significantly effective in reducing the incidence of short-term PPD (ketamine: RR = 0.72, 95% CI [0.56, 0.93], P  = 0.01; esketamine: RR = 0.43, P  < 0.0001). Esketamine only significantly reduced the incidence of long-term PPD (RR = 0.44, P  < 0.00001). Low doses and high doses were effective in reducing the incidence of both short-term (high dose: RR = 0.48, P  = 0.0005; low dose: RR = 0.46, P  = 0.002) and long-term PPD (high dose: RR = 0.54, P  < 0.0001; low dose: RR = 0.61, P  = 0.009). Regarding the risk of side effects, patients in the Ketamine/esketamine group showed statistically significant higher rates of developing dizziness ( P  = 0.0007), blurred vision ( P  = 0.02), vomiting ( P  = 0.004) and hallucinations ( P  = 0,002) than women in the control group. Conclusion Both ketamine and esketamine are effective in lowering the incidence of short-term PPD. On the other hand, only esketamine is effective in reducing the incidence of long-term PPD. It is recommended to use smaller doses for a more tolerable treatment period since doses less than 0.5 mg are significantly effective. Temporary side effects such as dizziness, blurred vision, vomiting and hallucinations were reported.