Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
-
J Coll Physicians Surg Pak · Oct 2021
Case ReportsA Special Case of Cirrhosis with a Novel ATP7B Mutation and Occult Chronic HBV Infection.
Wilson's disease (WD) is an autosomal recessive disorder that affects copper metabolism. Mutations of the ATP7B gene have been found to be strongly associated with a risk of developing WD; and at present, more than 500 mutations have been reported in WD patients. The Arg778Leu and Arg952Lys mutations in exons 8 and 12, respectively, are highly prevalent in the Chinese population. ⋯ Meanwhile, the early stage of occult hepatitis B infection lacks typical clinical manifestations, which easily leads to it being misdiagnosed as liver cirrhosis. We report a new pathogenic exon 19 mutation of ATP7B,which can potentially contribute to the early genetic diagnosis and prompt treatment of WD. Key Words: Wilson's disease, Gene mutation, ATP7B, Cirrhosis, Occult hepatitis B infection.
-
J Coll Physicians Surg Pak · Oct 2021
Observational StudyLocating Adductor Canal and Quantifying the Median Effective Volume of Ropivacaine for Adductor Canal Block by Ultrasound.
To identify the precise position of adductor canal; and to determine median effective volume (EV50) for adductor canal block (ACB) by ultrasound. ⋯ The midpoint between the femoral trochanter and the superior margin of patella is in the adductor canal. EV50 of 0.5% ropivacaine for ACB is 10.79 ml (95% CI, 10.10-11.52 ml). Key Words: Adductor canal, Location, Ultrasound, Median effective volume, Nerve block.
-
J Coll Physicians Surg Pak · Oct 2021
Case ReportsGastric Adenocarcinoma of the Fundic Gland Type: A Clinicopathological Observation.
We investigated the clinicopathological features, diagnosis and differential diagnosis of a patient with gastric adenocarcinoma of the fundic gland type (GA-FG). Endoscopic examination, histomorphological and pathological features were assessed in a 38-year female patient with GA-FG, who presented with upper abdominal pain. Upon endoscopic examination, we observed a smashed area around the cardia. ⋯ Endoscopic submucosal dissection was then performed and the tumor was found to infiltrate into the submucosa. GA-FG is a new tissue type of gastric cancer with unique clinicopathological features, with a good prognosis, and no tendency to relapse. Key Words: Gastric adenocarcinoma, Fundic gland type, Endoscopy.