Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
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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 ReportsBroad Complex Tachycardia, Addison's disease, and Ascending Flacid Paralysis: An Interesting Case on Cardiology Floor.
Broad complex tachycardia is a common presentation in the cardiology emergency room but is not always due to ventricular tachycardia, especially in a young patient who has other important medical illnesses and with no underlying cardiac illness. We present a case of a 40-year male who was admitted with complaints of palpitation associated with rapidly progressive weakness of lower limbs progressing to quadriparesis in about 10 hours. ⋯ His muscle power improved dramatically as potassium levels normalized and he recovered completely. Key Words: Acute flaccid paralysis, Hyperkalemia, Broad complex tachycardia.
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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
Case ReportsA Rare Case of Post-pubertal Pure Yolk-sac Tumour Incidentally Diagnosed after Surgical Intervention for Fournier's Gangrene.
The testicular tumour is the most common solid malignancy in males between the ages of 15 and 35 years. Testicular tumours most commonly present with a painless testicular mass. ⋯ Herein, we report a case of a young adult male, otherwise healthy, who presented to the emergency room with Fournier's gangrene and was found to have a metastatic post-pubertal pure yolk-sac tumour of the testis which is extremely rare in the adults. Key Words: Fournier's gangrene, Yolk sac tumour, Testicular neoplasm.
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J Coll Physicians Surg Pak · Aug 2022
Systemic Immune Inflammation Index as a Key Marker of Survival and Immune-related Adverse Events in Immune Checkpoint Inhibitor Therapy.
To evaluate the prognostic significance of the new index designed by formulating neutrophil, lymphocyte, and platelet counts in patients with metastatic disease receiving immune checkpoint inhibitors (ICI) and its effect on the immune-related adverse events (irAEs). ⋯ Systemic immune inflammation index, Overall survival, Progression-free survival, İmmune checkpoint inhibitor, Pembrolizumab, Nivolumab.