Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
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J Coll Physicians Surg Pak · Jan 2023
Case ReportsChronic Congenital Diarrhoea Linked to DGAT 1 Mutation.
Chronic diarrhoea causes morbidity and mortality in low-income countries in the paediatric population. There are many causes of chronic diarrhoea, including diacylglycerol o-acyltransferase 1 (DGAT1) deficiency, an enzyme deficiency, caused by the DGAT1 gene mutation, that leads to accumulation of DGAT1 lipid substrates, fatty acids and diacylglycerol, causing vomiting and chronic diarrhoea, and potentially more severe effects. ⋯ However, the DGAT1 gene mutation was positive, prompting management through dietary fat control. Key Words: DGAT1 deficiency, DGAT1 gene mutation, Chronic diarrhoea.
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J Coll Physicians Surg Pak · Jan 2023
Case ReportsA Suspected Case of COVID-19 with High Altitude-associated Massive Pulmonary Embolism and Right Ventricular Clots.
Pulmonary Embolism (PE) is an elusive entity that has long baffled physicians. At times, it can present as a diagnostic and therapeutic challenge. The aim of this report is to emphasise that high altitude is one of the risk factors for PE. ⋯ A high index of suspicion is required for the diagnosis and management of PE. If standard imaging techniques cannot be used due to clinical constraints, ancillary techniques must be effectively employed during management. Key Words: Pulmonary embolism, Thrombolysis, High altitude, COVID-19.
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J Coll Physicians Surg Pak · Jan 2023
Case ReportsAn Uncommon Gastrointestinal Manifestation of Systemic Lupus Erythematosus: Lupus Enteritis.
Systemic Lupus Erythematosus (SLE) is a chronic inflammatory disorder with heterogeneous presentation and clinical course. We present a case of a young female with an atypical presentation of SLE. A young woman with no known prior comorbidities presented with a history of chronic diarrhoea, vomiting, and weight loss, followed by generalized weakness. ⋯ She was given pulse therapy to which she responded very well. The case describes the importance of high clinical suspicion and timely intervention as well as adds to the evidence on a rare clinical entity of lupus enteritis. Key Words: Systemic lupus erythematosus, Lupus enteritis, Autoimmune disorder, Chronic diarrhoea.
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J Coll Physicians Surg Pak · Jan 2023
Case ReportsType B Aortic Dissection Converted into Type A Aortic Dissection.
A young patient presented to the emergency room (ER) with Type B aortic dissection and ascending aorta aneurysm. He was planned for medical optimization, close surveillance, echocardiography, and ascending aorta replacement on an urgent basis. His surveillance echocardiogram 2 days later revealed that Type B aortic dissection has converted into Type A aortic dissection. ⋯ A 25-sized SJ aortic valve- conduit was used for root replacement. The patient did very well and got discharged from the hospital on the sixth postoperative day. Key Words: Type A aortic dissection, Aortic root and ascending aorta aneurysm, Type B aortic dissection.
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J Coll Physicians Surg Pak · Jan 2023
Case ReportsUnusual Allergic Reaction to Intralesional Bleomycin in Periocular Haemangioma.
Capillary haemangiomas are the most common periocular tumours among children. Most of them resolve spontaneously. The most common indication for intervention is visual impairment. ⋯ Here, we report a highly unusual case of a severe allergic reaction to the fourth dose of intralesional bleomycin injection in a periocular haemangioma in a 7-year child. The clinical features and subsequent management of the patient are also discussed. Key Words: Anaphylaxis, Intralesional bleomycin, Periocular haemangioma.