RESUMEN
Esophageal varices (EVs), a significant complication of cirrhosis, present a considerable challenge in clinical practice due to their high risk of bleeding and associated morbidity and mortality. This manuscript explores the transformative role of artificial intelligence (AI) in the management of EV, particularly in enhancing diagnostic accuracy and predicting bleeding risks. It underscores the potential of AI in offering noninvasive, efficient alternatives to traditional diagnostic methods such as esophagogastroduodenoscopy (EGD). The complexity of EV management is highlighted, necessitating a multidisciplinary approach that includes pharmacological therapy, endoscopic interventions, and, in some cases, surgical options tailored to individual patient profiles. Additionally, the paper emphasizes the importance of integrating AI into medical education and practice, preparing healthcare professionals for the evolving landscape of medical technology. It projects a future where AI significantly influences the management of gastrointestinal bleeding, improving clinical decision-making, patient outcomes, and overall healthcare efficiency. The study advocates for a patient-centered approach in healthcare, balancing the incorporation of innovative technologies with ethical principles and the diverse needs of patients to optimize treatment efficacy and enhance healthcare accessibility.
RESUMEN
Bainbridge-Ropers syndrome (BRPS) or additional sex combs-like 3 (ASXL3)-related disorder is a neurodevelopmental disorder caused by a de novo missense mutation in the ASXL3 gene found on chromosome 18. The number of BRPS cases recorded to date is less than 100. In this report, a six-year-old Texan boy with global developmental delay, aggressive behavior, insomnia, microcephaly, strabismus, facial dysmorphic features, vesicoureteral reflux (VUR), bilateral congenital renal dysplasia, gastroesophageal reflux disease (GERD), hypotonia, failure to thrive, dysphagia, and status post-gastrostomy tube was referred to Children's Health in Dallas for evaluation. The patient shares a chromosomal abnormality with his father that did not explain his clinical findings. Therefore, further tests were indicated and a whole-exome gene sequencing revealed a de novo pathogenic heterozygous mutation in the ASXL3 gene in chromosome 18q12.1 associated with autosomal dominant BRPS. To our knowledge, this is the first case of BRPS with bilateral congenital renal dysplasia and may be correlated to the presence of the ASXL3 gene in renal tissue. This discovery provides significant new information about this condition that might be essential for comprehending it.
