Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
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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 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 ReportsFirst Documented Case of Pulmonary Alveolar Proteinosis with Atopy Presenting Secondary to CSFR2B Mutation.
Pulmonary alveolar proteinosis (PAP) is a rare lung disorder in which surfactant-derived lipoproteins accumulate excessively within pulmonary alveoli, causing severe respiratory distress. It is essential to gain a better understanding of the signs to clinically diagnose PAP and include PAP among the differential diagnoses of interstitial pulmonary diseases or other diseases with similar manifestations. We describe a 2.5-year patient with atopy who presented with pulmonary infiltration, recurrent wheezing, and cough despite steroid and salbutamol administration via inhalation. ⋯ However, granulocyte-macrophage colony-stimulating factor receptor beta-protein was not detected in leucocytes, and a novel mutation was identified in the CSF2RB gene. The patient was diagnosed with PAP and treated with whole-lung lavage. Key Words: Pulmonary alveolar proteinosis, Child, Atopy, Wheezing.
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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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