Publications by authors named "Khedidja Rebah"
Introduction: Gene copy number variations have theranostic impact and require reliable methods for their identification. We aimed to evaluate the reliability of combined next-generation sequencing (NGS) and digital droplet PCR (ddPCR) method for gene amplification evaluation.
Methods: We conducted a retrospective multicentric observational study.
Background: Monogenic and polygenic inheritances are evidenced for idiopathic pulmonary fibrosis (IPF). Pathogenic variations in surfactant protein-related genes, telomere-related genes (TRGs), and a single-nucleotide polymorphism in the promoter of MUC5B gene encoding mucin 5B (rs35705950 T risk allele) are reported. This French-Greek collaborative study, Gen-Phen-Re-GreekS in inheritable IPF (iIPF), aimed to investigate genetic components and patients' characteristics in the Greek national IPF cohort with suspected heritability.
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- Gastric type 1 neuroendocrine tumors are usually low-proliferation and have a favorable prognosis, but this case presents an aggressive grade 3 variant.
- The tumor had a high Ki-67 proliferation index of 30%, indicating its aggressive nature, and was linked to autoimmune gastritis.
- Genetic testing revealed a pathogenic mutation in the ATM gene, which may contribute to the tumor's growth and spread, ultimately leading to the patient's death after 6 years due to disease progression.
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