Expanding the clinical and genetic spectrum of G6PD deficiency: The occurrence of BCGitis and novel missense mutation.

Glucose-6-phosphate dehydrogenase (G6PD) is a key enzyme in the pentose phosphate pathway that ensures sufficient production of coenzyme nicotinamide adenine dinucleotide phosphate (NADPH) by catalyzing the reduction of NADP+ to NADPH. Noteworthy, the latter mediates the production of reactive oxygen species (ROS) by phagocytic cells such as neutrophils and monocytes. Therefore, patients with severe forms of G6PD deficiency may present impaired NADPH oxidase activity and become susceptible to recurrent infections. This fact, highlights the importance to characterize the immunopathologic mechanisms underlying the susceptibility to infections in patients with G6PD deficiency. Here we report the first two cases of G6PD deficiency with Bacille Calmette-Guérin (BCG) adverse effect, besides jaundice, hemolytic anemia and recurrent infections caused by Staphylococcus aureus. The qualitative G6PD screening was performed and followed by oxidative burst analysis using flow cytometry. Genetic and in silico analyses were carried out by Sanger sequencing and mutation pathogenicity predicted using bioinformatics tools, respectively. Activated neutrophils and monocytes from patients displayed impaired oxidative burst. The genetic analysis revealed the novel missense mutation c.1157T>A/p.L386Q in G6PD. In addition, in silico analysis indicated that this mutation is pathogenic, thereby hampering the oxidative burst of neutrophils and monocytes from patients. Our data expand the clinical and genetic spectrum of G6PD deficiency, and suggest that impaired oxidative burst in this severe primary immune deficiency is an underlying immunopathologic mechanism that predisposes to mycobacterial infections.

Nano revolution in cardiovascular health: Nanoparticles (NPs) as tiny titans for diagnosis and therapeutics.

Cardiovascular diseases (CVDs) are known as life-threatening illnessescaused by severe abnormalities in the cardiovascular system. They are a leading cause of mortality and morbidity worldwide.Nanotechnology integrated substantialinnovations in cardiovascular diagnostic and therapeutic at the nanoscale. This in-depth analysis explores cutting-edge methods for diagnosing CVDs, including nanotechnological interventions and crucial components for identifying risk factors, developing treatment plans, and monitoring patients' progress with chronic CVDs.Intensive research has gone into making nano-carriers that can image and treat patients. To improve the efficiency of treating CVDs, the presentreview sheds light on a decision-tree-based solution by investigating recent and innovative approaches in CVD diagnosis by utilizing nanoparticles (NPs). Treatment choices for chronic diseases like CVD, whose etiology might take decades to manifest, are very condition-specific and disease-stage-based. Moreover, thisreview alsobenchmarks the changing landscape of employing NPs for targeted and better drug administration while examining the limitations of various NPs in CVD diagnosis, including cost, space, time, and complexity. To better understand and treatment of cardiovascular diseases, the conversation moves on to the nano-cardiovascular possibilities for medical research.We also focus on recent developments in nanoparticle applications, the ways they might be helpful, and the medical fields where they may find future use. Finally, this reviewadds to the continuing conversation on improved diagnosis and treatment approaches for cardiovascular disorders by discussing the obstacles and highlighting the revolutionary effects of nanotechnology.