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Abstract

Background:
Hepatocellular carcinoma (LIHC) is a common and aggressive liver malignancy, often diagnosed at advanced stages. Dysregulation of the TP53 tumor suppressor gene critical for cell cycle control, apoptosis, and genomic stabilityis frequently observed in LIHC; however, its prognostic value remains uncertain.

Objectives:
To investigate TP53 expression levels, prognostic relevance, and molecular interactions in LIHC within a broader pan-cancer context.

Methods:
Publicly available datasets from TCGA and GEO were analyzed. TP53 differential expression was evaluated using TIMER 2.0, GEPIA, and UALCAN. Survival analysis was performed via Kaplan-Meier Plotter, GEPIA, and UALCAN. Genomic alterations were assessed through cBioPortal. Gene expression validation was conducted using GEO2R and ggplot2. Protein-protein interaction networks were constructed using STRING and GeneMANIA.

Results:
TP53 mRNA expression was significantly elevated in LIHC tumor tissues compared to normal liver tissues (p < 0.05). Promoter hypo-methylation was noted in tumor samples, potentially contributing to this up-regulation. Survival analysis revealed conflicting findings: Kaplan-Meier Plotter associated high TP53 expression with better prognosis (HR = 0.65, p = 0.029), whereas GEPIA and UALCAN linked high expression with poorer outcomes. Furthermore, TP53 expression positively correlated with immune cell infiltration and advanced clinical stage, suggesting a complex role in tumor progression.

Conclusion:
TP53 demonstrates a dual, context-dependent role in LIHC, acting as both a tumor suppressor and potential oncogenic driver. Its variable expression patterns and inconsistent prognostic associations highlight its potential as a diagnostic and prognostic biomarker and support the need for further functional and clinical validation.

Background: Polydactyly is common congenital limb anomaly characterized by having extra fingers or toes and can be either syndromic or non-syndromic. GLI3 plays an important role in limb development via the Sonic Hedgehog signaling system. 
Methods and results: In this study, we examined a Pakistan family with postaxial polydactyly in an autosomal dominant manner. Clinical assessment confirmed non-syndromic presentation without further systemic abnormalities. Whole exome sequencing and Sanger validation identified a novel heterozygous missense variant in GLI3 (Glioma-associated oncogene homolog 3) [NM_000168.6: c.3199C>T; p. (Pro1067Ser)].
Conclusion: This novel variant expands the GLI3 mutation spectrum and highlights the importance of comprehensive genetic screening for accurate diagnosis and counselling of families with isolated polydactyly.

Genetic disorders remain among the greatest challenges in modern medicine, with over 95% lacking curative therapies. Preimplantation Genetic Testing (PGT) has emerged as a transformative preventive tool, enabling the detection of chromosomal abnormalities (PGT-A) and single-gene disorders (PGT-M) in embryos prior to implantation. At ExpressMed Diagnostics and Research, Bahrain, nearly 700 PGT-A and 25 PGT-M cases have been performed, with a significant impact on reducing miscarriage risk and preventing sickle cell disease transmission. Our data highlight the critical influence of maternal age, with aneuploidy rates rising from ~60% in women under 30 to ~90% in women over 40. In the Gulf region, where consanguinity and genetic disorders are highly prevalent, PGT offers a powerful public health strategy to reduce inherited disease burden, complementing newborn screening and premarital testing. As genomic technologies advance, ensuring accessibility, affordability, and ethical oversight will be essential. PGT represents not only a scientific breakthrough but also a shift in reproductive medicine from treatment to prevention, with profound implications for future generations.