RESUMEN
Alzheimer's disease (AD) is a serious health issue that has a significant social and economic impact worldwide. One of the key aetiological signs of the disease is a gradual reduction in cognitive function and irreversible neuronal death. According to a 2019 global report, more than 5.8 million people in the United States (USA) alone have received an AD diagnosis, with 45% of those people falling into the 75-84 years age range. According to the predictions, there will be 15 million affected people in the USA by 2050 due to the disease's steadily rising patient population. Cognitive function and memory formation steadily decline as a result of an irreversible neuron loss in AD, a chronic neurodegenerative illness. Amyloid-beta and phosphorylated Tau are produced and accumulate in large amounts, and glial cells are overactive. Additionally, weakened neurotrophin signalling and decreased synapse function are crucial aspects of AD. Memory loss, apathy, depression, and irritability are among the primary symptoms. The aetiology, pathophysiology, and causes of both cognitive decline and synaptic dysfunction are poorly understood despite extensive investigation. CRISPR/Cas9 is a promising gene-editing technique since it can fix certain gene sequences and has a lot of potential for treating AD and other human disorders. Regardless of hereditary considerations, an altered Aß metabolism is frequently seen in familial and sporadic AD. Therefore, since mutations in the PSEN-1, PSEN-2 and APP genes are a contributing factor to familial AD, CRISPR/Cas9 technology could address excessive Aß production or mutations in these genes. Overall, the potential of CRISPR-Cas9 technology outweighs it as currently the greatest gene-editing tool available for researching neurodegenerative diseases like AD.
RESUMEN
Pediatric spontaneous gastric perforation is a rarely encountered condition with poorly understood causal mechanisms. We present a novel case of a two-month-old female infant from Nepal who previously experienced Croup and subsequently developed severe abdominal distention and vomiting. Abdominal X-ray findings confirmed pneumoperitoneum, prompting immediate laparotomy. Intraoperative examination revealed a substantial perforation along the posterior stomach wall, specifically along the lesser curvature. The surgical intervention involved gastrorrhaphy and omentopexy using 3-0 Vicryl sutures, leading to an uneventful postoperative recovery. This case report highlights the critical importance of early and efficient management of spontaneous gastric perforations in infants, emphasizing the need for timely intervention to achieve favorable outcomes. Pediatric spontaneous gastric perforation remains a rare condition, and reporting such cases contributes to our understanding and management of this unusual pathology.
