Jumping Translocation of Chromosome 11q in De Novo Acute Myeloid Leukemia: A Rare Chromosomal Aberration
Abstract
Volume 10,Issue 3
Jumping Translocation of Chromosome 11q in De Novo Acute Myeloid Leukemia: A Rare Chromosomal AberrationAbstract Acute myeloid leukemia (AML) represents a clinically and genetically heterogeneous group of hematologic malignancies. Among the less frequently encountered cytogenetic abnormalities are jumping translocations (JTs), in which a segment from a donor chromosome relocates to multiple recipient chromosomes. Although uncommon, these events have been described in association with clonal evolution and, in some cases, more aggressive disease behavior. Here, we describe a 49-year-old man who presented wit [...] |
Analysis of rs25487 (Arg399Gln) in XRCC1 in Sudanese Diagnosed with Nasopharyngeal Carcinoma and Its Possible Risk FactorsAbstract Nasopharyngeal carcinoma (NPC) is a multifactorial malignancy influenced by genetic susceptibility and environmental exposures. The XRCC1 Arg399Gln (rs25487) polymorphism has been associated with NPC risk in several populations; however, evidence from African populations remains scarce. This study investigated the association between the XRCC1 Arg399Gln polymorphism and NPC susceptibility in a Sudanese population. A case-control study was conducted inclu [...] |
Dental Care in Children with Dystrophic Epidermolysis Bullosa: Case Report and Evidence-Based ManagementAbstract Epidermolysis bullosa (EB) is a group of rare, genetically determined disorders characterized by blister formation, skin fragility, and mucocutaneous blisters and erosions following minimal trauma. Oral manifestations and dental involvement of EB vary in frequency and severity depending on the subtype. Dental management of children with EB is complex due to the high risk of iatrogenic soft-tissue injury and requires strict adherence to evidence-based preventive and minimally invasive protocols. [...] |
Novel SLITRK6 Nonsense Mutation in an Iranian Family with Autosomal Recessive Syndromic Hearing Lossby
Abstract SLITRK6 is essential for inner-ear neuronal survival and retinal development, and pathogenic variants in this gene cause syndromic sensorineural hearing loss (HL) with high myopia. This study aimed to identify the genetic basis of HL and myopia in a consanguineous Iranian family with two affected children and to characterize the molecular consequences of the detected variant. One sibling with bilateral congenital HL and myopia was evaluated using whole-exome sequencing (WES) [...] |
Mutagenic Variations in Four Successive Generations of Cotton Varieties from Gamma Ray Treated Seedsby
Abstract Seeds of cotton varieties Ganja-160, Ganja-182, and Ganja-183 were γ-irradiated with the isotope Co-60 at doses of 5, 10, 50, 100, 200, 300, and 400 Gy (at a dose rate of 0.342 rad/sec). Irradiated seeds, along with non-irradiated seeds (controls), were sown at the experimental base of the Center for Agricultural Sciences under open-field conditions in four replicates. The aim was to obtain mutant cotton lines with high quality and improved technological parameters, as well as resistance to vari [...] |
A Machine Learning-Based Diagnostic Model for Prostate Cancer Using Circulating MicroRNA Expression Profilesby
Abstract Prostate cancer (PCa) is one of the most common malignancies among men worldwide, and early detection is critical for improving clinical outcomes. Circulating microRNAs (miRNAs) have emerged as promising non-invasive biomarkers for cancer diagnosis due to their stability in blood and association with tumor-related molecular alterations. In this study, machine learning (ML) methods were applied to large-scale circulating miRNA expression data to develop a diagnostic model for PCa detection. Serum [...] |
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