Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
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J Coll Physicians Surg Pak · Jan 2023
Case ReportsTransfusion-associated Graft versus Host Disease: A Certain but Avoidable Cause of Death.
Transfusion-associated graft versus host disease (TA-GvHD) is a rare complication of blood transfusion. It is a delayed transfusion reaction that usually presents from day 7 to day 14 following a transfusion. It can affect both immunocompromised as well as immunocompetent patients. ⋯ The condition is usually fatal in 90% of cases. Here, we present one such case in which the maternal blood transfused to an infant cost him his life within 12 days of transfusion. Key Words: Transfusion, Homozygous antigen, Heterozygous antigen, Graft versus host disease.
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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 Unique Case of Dark Brown Plasma: Why Colour Variation should be Reported.
The normal physiological colour of plasma and urine ranges from yellow to straw-coloured. In this case report, we describe the occurrence of unusual, dark brown-coloured plasma and cola-coloured urine in a 42-year-man admitted to the Emergency Department. The patient presented with high-grade fever (102oF), chills, nausea, vomiting, dark stools, and dark urine for three days. ⋯ This case highlights the importance of plasma colour variations and also sheds light on a rare cause of dark brown-coloured plasma. Every case of brown colouration of the plasma must be promptly reported to the clinician and must also be mentioned in the patient report as this will help in timely diagnosis and favourable patient outcomes. Key Words: Blood plasma, Urine, Dengue fever, Rhabdomyolysis.
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J Coll Physicians Surg Pak · Jan 2023
Case ReportsSubacute Cutaneous Lupus Erythematosus in a Patient with Mixed Connective Tissue Disease.
Mixed Connective Tissue Disease (MCTD) is an overlap syndrome of mild severity and good outcome. This disease consists of clinical features overlapping between Systemic Lupus erythematosus (SLE), scleroderma, rheumatoid arthritis, and polymyositis, in the presence of specific anti-RNP antibodies. We report a case of a 20-year girl who presented with a 3-month history of joint pains involving the small joints of her hands along with morning stiffness, skin thickening of hands, Raynauds phenomena, and recurrent photosensitive skin rashes. ⋯ She was diagnosed as MCTD with subacute cutaneous lupus erythematosus (SCLE) and started on hydroxychloroquine and oral prednisolone. At 6 months follow-up, she was in remission and tolerating hydroxychloroquine without any adverse effects. Key Words: Mixed connective tissue disease, Anti-RNP antibodies, Subacute cutaneous lupus erythematosus, Skin biopsy.
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J Coll Physicians Surg Pak · Jan 2023
Case ReportsThe Risky Side Effects of Eating Hairs: A Case of Gastric Perforation from Trichobezoar.
Trichobezoar is a rare and potentially dangerous surgical condition in which patients swallow their own hair, often as a result of trichotillomania or trichophagia. This case report focuses on a 12-year female who experienced abdominal pain, anaemia, and gastric perforation due to her mental health conditions. Further examination revealed the presence of hairs, fibers, and bile in her stomach wall - indicative of trichobezoar - which had to be surgically removed. ⋯ The patient in this case was also treated with therapy for underlying mental health issues. With careful diagnosis and treatment plans tailored to each individual's needs, patients suffering from trichobezoar can receive the help they need for successful recovery. Key Words: Bezoars, Gastric rupture, Trichotillomania, Emotional disturbance.