Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
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J Coll Physicians Surg Pak · Aug 2022
Case ReportsGlucagonoma Syndrome: A Rare Paraneoplastic Disorder due to Neuroendocrine Tumor of the Pancreas.
Glucagonoma syndrome is an extremely rare paraneoplastic disorder. The key presenting feature is a rash (necrolytic migratory erythema) which can easily be misdiagnosed as a primary skin disorder. Moreover, 50 to 80 % of patients already have metastatic disease at diagnosis. ⋯ However, a subsequent biopsy revealed a recurrence of the tumor. This was a unique finding in our case where a highly sensitive octreotide scan failed to identify metastasis, emphasising the importance of biopsy in such cases. Key Words: Glucagonoma, Necrolytic migratory erythema, Alpha-cell adenom.
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J Coll Physicians Surg Pak · Aug 2022
Spectrum of Cystic Fibrosis Conductance Regulator Gene Mutations Reported in Pakistani Descent Cystic Fibrosis Patients.
Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This study aims to determine the genotypic and phenotypic spectrum of the CFTR gene mutations reported in the literature for Pakistani-origin CF patients. Databases were searched for such studies from 1947-2019 for sample size, method of diagnosis, and CFTR gene mutations. ⋯ There is a need to identify common mutations in the Pakistani population to develop population-specific CFTR mutations panel. This will enable the researchers to perform phenotype-genotype correlation studies to improve the CF detection rate. Key Words: Cystic fibrosis, Pakistan, Mutations, CFTR.
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J Coll Physicians Surg Pak · Aug 2022
Case ReportsNeuroendocrine Tumour of the Gallbladder Diagnosed after Cholecystectomy.
Gallbladder cancer is a rare but aggressive malignancy. Neuroendocrine tumour of the gallbladder make up 2-3% of all the gallbladder tumour. A 67-year female patient underwent laparoscopic cholecystectomy because of symptomatic cholelithiasis and the histopathology revealed a neuroendocrine tumour of the gallbladder, stage pT2a. ⋯ Guidelines are also insufficient. Multi-centred and large studies are needed in order to develop standardisation in treatment, prognosis, and factors affecting survival. Key Words: Cholecystectomy, Neuroendocrine Tumour, Gallbladder.
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J Coll Physicians Surg Pak · Aug 2022
Outcomes of Radiofrequency Ablation Therapy of Great Saphenous Veins Insufficiency.
To evaluate the outcomes of radiofrequency ablation (RFA) therapy performed on patients with great saphenous vein insufficiency. ⋯ Chronic venous insufficiency, Radiofrequency ablation, Patient-reported outcomes.
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J Coll Physicians Surg Pak · Aug 2022
Extrahepatic Biliary Tract Variations is an Effect for Acute Calculous Cholecystitis.
To evaluate the anatomy of the extrahepatic bile duct and to reveal its importance in the formation of acute calculous cholecystitis (ACC). ⋯ Acute calculous cholecystitis, Extrahepatic biliary tract, Anatomical variations, Cholelithiasis.