Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
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J Coll Physicians Surg Pak · Aug 2022
Case ReportsA Rare Case of Propionic Acidemia in a Six Months Female Child.
Propionic Acidemia (PA) is a rare metabolic disorder caused by the defect in enzyme (propionyl-coenzyme A (CoA) carboxylase) leading to the abnormal accumulation of metabolites of branched-chain amino acid catabolism in blood and urine. We describe the first ever diagnosed case in our setup of early onset PA in a 06 months old baby girl who presented with the complaints of decreased feed intake, lethargy, vomiting, failure to thrive, and intermittent seizures. ⋯ Finally, urine organic acid analysis by gas chromatography-mass spectrometry (GCMS) showed marked elevation of 3-hydroxy propionate, methyl citrate, and 3-hydroxy, 2 methylbutyric acid with moderate rise in 3-hydroxy butyric acid without an elevation of methylmalonate in urine, thus giving the diagnosis of PA. Key Words: Propionic acidemia, Propionyl-CoA Carboxylase deficiency, Gas chromatography-mass spectrometry.
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J Coll Physicians Surg Pak · Aug 2022
Case ReportsCutaneous T-cell Lymphoma Predisposing to Recurrent Infective Endocarditis by Methicillin-resistant Staphylococcus Aureus (MRSA) in a Patient with Intracardiac Defibrillator (ICD).
Cutaneous T-cell lymphoma (CTCL) is a rare group of extra-nodal non-Hodgkin's lymphomas resulting in infiltration of the skin by the malignant cells. Sézary syndrome (SS) and mycosis fungoides (MF) are the most common subtypes, and infectious complications are the major cause of death in such patients. ⋯ Herein, we report a unique case of non-ischemic cardiomyopathy with an implantable cardiac defibrillator (ICD), who later developed CTCL, complicated by the recurrent right-sided IE which is caused by MRSA. Key Words: Cutaneous T-cell lymphoma, Methicillin-resistant staphylococcus aureus (MRSA), Infective endocarditis.
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Penetrating neck injuries (PNIs) can cause injuries to great vessels. Superior vena cava (SVC) injury from a stab to the neck is rare and when it occurs, poses a significant risk of exsanguinating hemorrhage. We report a case of a 17-year female who survived a delayed presentation of five hours after sustaining stab injury to zone 1 of the neck. ⋯ This case illustrates the point that control of bleeding by soft clots does not rule out major vascular injury. Additionally, it demonstrates how permissive hypotension can be helpful as a damage control stepping stone in the management of these critical patients. Key Words: Penetrating neck injury, Permissive hypotension, SVC laceration, Venorrhaphy.
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J Coll Physicians Surg Pak · Aug 2022
Case ReportsLaparoscopic Management of Intestinal Obstruction due to a Tight Muscular Cuff Following Transanal Endorectal Pull-through for Hirschsprung's Disease.
Complications of Hirschsprung's disease's surgery include the general complications of any abdominal surgery, but one of the specific complications is obstruction, which occurs in 10% of children after surgical correction and can be due to a narrowing muscular cuff or a coloanal anastomotic stenosis. We report a case of a 4-month baby, diagnosed as suffering from Hirschsprung's disease, who developed postoperative constipation after transanal endorectal pull-through due to unusual folding of the muscular cuff, which narrowed the colon. A laparoscopic approach was performed. ⋯ A long and tight rectal muscular cuff could be the reason for postoperative obstructive side effects. The use of laparoscopy has the advantage of confirming the suspected diagnosis and a clear visualisation of the rectal cuff. Key Words: Hirschsprung disease, Intestinal obstruction, Laparoscopy.
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J Coll Physicians Surg Pak · Aug 2022
The Potential Utility of Lead Compound, E18, in Inhibiting Docking of SARS-CoV-2 by inhibiting ACE2-B0AT1 Complex.
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