RESUMEN
Tuberous sclerosis (TS) is a rare multisystem autosomal dominant genetic disorder with characteristic pathognomonic genetic mutations involving the TSC (tuberous sclerosis complex) group of genes. Ocular signs are fairly common and include an achromic patch and retinal astrocytic hamartomas, which usually have a maximum size of between 0.5 and 5 mm. The incidence of tuberous sclerosis is estimated to be 1 in 5000-10,000 individuals, with both familial and sporadic cases reported. The diagnostic criteria for tuberous sclerosis include the presence of major and/or minor clinical features as well as genetic mutations. We present the case of a 15-year-old girl, presented with a history of seizures and blurred vision. Physical examination revealed angiofibroma on the face. Further evaluation, including contrast-enhanced MRI of the brain and ophthalmological consultation, led to the diagnosis of tuberous sclerosis. Additional imaging studies confirmed the presence of subependymal giant cell astrocytoma, retinal astrocytoma, lymphangioleiomyomatosis in the lungs, and renal angiomyolipoma. This case highlights the importance of considering tuberous sclerosis in patients presenting with seizures and ocular symptoms. This case sheds light on early diagnosis and appropriate management which are crucial in preventing complications and improving patient outcomes.
RESUMEN
Heart failure is a substantial and escalating global health challenge, affecting millions worldwide. This complex syndrome arises from diverse etiologies, encompassing ischemic heart disease, hypertension, valvular abnormalities, and cardiomyopathies. Heart failure is characterized by the heart's inability to pump blood efficiently to meet the body's metabolic demands, leading to debilitating symptoms, frequent hospitalizations, and high mortality rates. Traditionally, the management of Heart failure has focused on alleviating symptoms, reducing fluid retention, and enhancing cardiac contractility. These goals have been achieved through a combination of pharmacological therapies such as angiotensin-converting enzyme inhibitors, beta-blockers, and diuretics, often complemented by device-based interventions like implantable cardioverter-defibrillators and cardiac resynchronization therapy. However, despite these advances, the relentless progression of heart failure remains a significant clinical challenge. Neurohormonal activation, cardiac fibrosis, and cellular remodeling are just a few of the intricate processes contributing to the disease's progression. In recent years, researchers and clinicians have embarked on a quest to identify novel therapeutic approaches that address these underlying mechanisms. One such avenue of exploration involves the revolutionary field of gene therapy, with promising gene-editing techniques, such as CRISPR-Cas9, offering potential routes for correcting genetic mutations that contribute to heart failure. Additionally, regenerative medicine approaches, including stem cell therapy and tissue engineering, hold significant promise for repairing damaged cardiac tissue and restoring function. Furthermore, precision medicine initiatives have gained traction, aiming to tailor heart failure therapies to individual patient profiles, taking into account genetics, biomarkers, and comorbidities. Integrating artificial intelligence and machine learning in heart failure management has also enabled the development of predictive models for early intervention, risk stratification, and personalized treatment recommendations. This narrative review navigates the intricate landscape of emerging therapies for heart failure, emphasizing their potential to revolutionize the field by targeting the disease's fundamental mechanisms. By exploring these innovative approaches, we aspire to provide a comprehensive perspective on the evolving paradigm of heart failure management, fostering a hopeful outlook for patients and clinicians alike.
RESUMEN
Diabetes mellitus poses a substantial global health challenge, necessitating innovative approaches to improve patient outcomes. Conventional one-size-fits-all treatment strategies have shown limitations in addressing the diverse nature of the disease. In recent years, personalized medicine has emerged as a transformative solution, tailoring treatment plans based on individual genetic makeup, lifestyle factors, and health characteristics. This review highlights the role of genetic screening in predicting diabetes susceptibility and response to treatment, as well as the potential of pharmacogenomics in optimizing medication choices. Moreover, it discusses the incorporation of lifestyle modifications and behavioral interventions to empower patients in their health journey. Telemedicine and remote patient monitoring are also examined for their role in enhancing accessibility and adherence. Ethical considerations and challenges in implementing personalized medicine are addressed. The review envisions a future where personalized medicine becomes a cornerstone in diabetes management, ensuring improved patient outcomes and fostering more effective and patient-centric care on a global scale.