IMPACT FACTOR: 2.1
Case reports remain a cornerstone of medical literature, providing valuable insights into rare conditions, novel treatments, and unexpected clinical presentations. However, the interpretation of complex medical images within these reports can be challenging and time-consuming.
This collection presents a series of case reports demonstrating the application of Artificial Intelligence (AI) and Information Technology (IT) in diverse medical imaging scenarios. These reports highlight the potential of AI-driven algorithms for enhanced diagnostic accuracy, streamlined workflows, and personalized patient care.
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a rare autosomal recessive disorder affecting fatty acid β-oxidation, primarily caused by mutations in the ACADVL gene. This condition can manifest in neonates with severe symptoms, including hypoglycemia, cardiomyopathy, and sudden cardiac arrest, often leading to high mortality rates if not diagnosed early.
Chronic Septic Granulomatosis (CSG) is a primary immunodeficiency caused by mutations in the genes of the NADPH oxidase complex, which is essential for innate immunity. This rare condition is characterized by recurrent bacterial and fungal infections, as well as the formation of granulomas affecting various organs.
Lymphoepithelial parotid cysts are rare in HIV-negative patients and recurrence rate is very low when they occur. As of our knowledge, there is no similar reported case in the English literature. We present a case of a 42-year-old female Human retroviral infection (HIV) negative female patient who presented with recurrent parotid swelling.
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