Medicine
-
Review Case Reports
A novel BCHE frameshift mutation in a Chinese woman with butyrylcholinesterase deficiency: A case report and literature review.
Congenital butyrylcholinesterase deficiency (BCHED) is a rare autosomal recessive genetic disorder caused by a pathogenic mutation in the BCHE gene. Patients with BCHED may experience prolonged apnea or even death after the application of drugs such as succinylcholine. We aimed to identify the genetic basis of disease in a patient presenting with butyrylcholinesterase deficiency in order to confirm the diagnosis, expand BCHE gene mutation spectrum, and elucidate potential genotype-phenotype associations to inform management. ⋯ Clinical manifestations of congenital BCHED were not significant. This study avoided a potential anesthetic accident, and the novel variant enriched the BCHE gene mutation spectrum.
-
Review Case Reports
Case report and literature review: A young man with giant intra-abdominal Ewing sarcoma.
Extraosseous Ewing sarcoma (EES) is a rare manifestation within the Ewing sarcoma tumor family (ESFT). Its clinical manifestations lack specificity, intestinal obstruction is the main symptom but can also present with abdominal pain, gastrointestinal bleeding, and other discomforts, making it prone to misdiagnosis as intestinal mesenchymal tumor. ⋯ Giant abdominal Ewing sarcoma with a diameter of 15 cm is rare. Considering postoperative pathology and genetic testing, abdominal Ewing sarcoma was suspected. The patient was successfully treated using surgery.
-
Review Case Reports
Chyle leakage after laparoscopic cholecystectomy in a patient with duplicated cystic ducts: A case report and literature review.
Laparoscopic cholecystectomy (LC) is widely performed as a standard treatment for cholelithiasis, and chyle leakage after LC has rarely been reported. Duplicated cystic ducts draining a single gallbladder is an extraordinarily rare variation. ⋯ There may be a potential relationship between anatomic variants of the extrahepatic bile ducts and those of the lymphatic system. When anatomic variations of the extrahepatic bile ducts are encountered, vigilance for lymphatic system injuries is as important as vigilance for bile duct injuries. Conservative therapy is the first choice for postoperative chyle leakage, and surgical intervention should be considered in cases with high-volume chyle leakage.
-
Review Case Reports
Proton pump inhibitor-induced hypomagnesemia, a rare cause of reversible delirium: A case report with literature review.
Hypomagnesemia is associated with multiple electrolyte disturbances such as hypokalemia, hypocalcemia and hypoparathyroidism. Proton pump inhibitors (PPIs) are widely used in gastrointestinal disorders and are generally considered safe by clinicians. However, it is unusual side effect of hypomagnesemia is potentially under-recognized. Delirium is usually thought to be a clue of cerebrovascular disease, and the association between delirium and hypomagnesemia is unexpected. We describe a patient used PPI with hypomagnesemia showed normal parathyroid hormone (PTH) despite hypocalcemia and reversible delirium. To enhance clinicians' vigilance, we performed a literature review on cerebellar syndromes due to hypomagnesemia. ⋯ Hypomagnesemia is associated with a variety of neurological symptoms up to life-threatening conditions if left untreated; as Mg is not present in routine electrolyte panels, hypoparathyroidism, hypokalemia, and delirium may be a clue, and physicians must be alert to consider PPI as a potential cause of unexplained hypomagnesemia, and timely treatment to avoid sequelae.
-
Meta Analysis
The prognostic role of survivin expression in breast cancer: A systematic review and meta-analysis.
Breast cancer is a heterogeneous condition with variations in histopathological, genomic, and biological characteristics. Although clinicopathological prognostic factors and gene expression profiles are commonly used to guide treatment decisions in patients with breast cancer, there is still a need for new prognostic markers. One potential marker is survivin, a protein belonging to the apoptosis inhibitor family. However, studies examining the relationship between survivin and prognosis in breast cancer have yielded inconsistent results. This study aimed to evaluate the impact of survivin expression on the prognosis of breast cancer patients through a meta-analysis. ⋯ In this study, we evaluated the prognostic significance of survivin expression in patients with breast cancer through a meta-analysis. These results support the use of survivin expression as a prognostic marker in breast cancer, potentially guiding treatment decisions.