Medicina
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Chromosomal abnormalities (CAs) are changes in the number or structure of chromosomes, manifested as alterations in the total number of chromosomes or as structural abnormalities involving the loss, duplication, or rearrangement of chromosomal segments. CAs can be inherited or can occur spontaneously, leading to congenital malformations and genetic diseases. ⋯ An early diagnosis and the adequate management of chromosomal abnormalities associated with cardiovascular diseases are essential to prevent SCD, which is a serious public health problem today. In our review, we analyzed the structural and functional CAs responsible for congenital heart disease (CHD) that increase the risk of SCD and analyzed the prevention strategies to be implemented to reduce SCD.
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Cancer is a therapeutically challenging and genomically complicated disease. Pioneering studies have uncovered multifaceted aspects of cancer, ranging from intra- and inter-tumor heterogeneity, drug resistance, and genetic/epigenetic mutations. Loss of apoptosis is another critical aspect that makes cancer cells resistant to death. ⋯ However, there is a growing concern about the poor bioavailability and rapid clearance of TRAIL-based therapeutics. Excitingly, the charismatic field of nanotechnology offers solutions for different problems, and we have witnessed remarkable breakthroughs in the efficacy of TRAIL-based therapeutics using nanotechnological approaches. In this review, we have attempted to provide a summary about different nanotechnologically assisted delivery methods for TRAIL-based therapeutics in cell culture studies and animal model studies for the inhibition/prevention of cancer.
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Background and Objectives: Type 2 diabetes (T2DM) affects millions across the globe, generating a veritable public health issue through quality-of-life-reducing chronic complications, among which urinary tract infections are the most common. A shift in the disease managing paradigm from a glucose-centered view to a concept of cardio-reno-metabolic health has uniquely placed SGLT2 inhibitors as viable medication for the complex management of T2DM and its comorbidities. Some concerns have been raised over the increased likelihood of urinary tract infections (UTIs) associated with SGLT2 inhibitor use. ⋯ The female gender was also associated with an increased likelihood of UTI. A further evaluation of the sublot of patients taking SGLT2 inhibitors revealed that not only higher BMI or HbA1c could be a predictor for the likelihood of developing UTI, but also a longer duration of T2DM was a predisposing factor. Conclusions: The use of SGLT2 inhibitors did not increase the likelihood of developing a urinary tract infection in this patient population.
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Background and Objectives: The long-term prognosis of acute myeloid leukemia (AML) is challenging due to limited understanding of the molecular markers involved in its development. This study investigates the role of DNA polymerases in AML to offer new insights for diagnosis and treatment. Materials and Methods: A retrospective study on pediatric AML patients with POL gene family mutations from 2021 to 2024 was conducted. ⋯ Survival analysis across different datasets indicated that AML patients with overexpressed POL family genes had significantly worse outcomes, proposing these genes as potential prognostic biomarkers for AML. Conclusions: This study on pediatric AML demonstrates that POL gene family mutations are associated with higher remission rates post-chemotherapy, indicating their potential as prognostic markers. Bioinformatics analysis emphasizes the significance of these mutations in AML, highlighting their impact on disease prognosis.
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Background and Objectives: To prove the feasibility of continuous spinal extraperitoneal robot-assisted laparoscopic radical prostatectomy (cseRALP) in order to expand the pool of eligible patients. Materials and Methods: According to IDEAL guidelines, a consecutive cohort of patients who underwent cseRALP was enrolled. Pre-, intra-, and post-operative data were collected, with particular focus on safety and oncological outcomes. ⋯ Only a grade 1 Clavien-Dindo complication was reported, small urinary leakage treated with an indwelling catheter. Oncological and functional results at month 3 were satisfactory, with no recurrence and no stress incontinence. Conclusions: cseRALP seems to be feasible and safe; further trials are mandatory.