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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Differentiating between benign cutaneous manifestations and lesions from inflicted injuries is not always simple. A 14-year boy was admitted to our Forensic Medicine Clinic for the preparation of a medico-legal report requested by the prosecution office. On inspection, there were 10 violaceous, atrophic, horizontal, linear striae distensae (SD), confined to the lower back and measuring 0.5 cm in width and between 6 cm and 13 cm in length. ⋯ It is recommended that practitioners develop examination skills and medical knowledge about cases that may become the subject of legal action. Moreover, physicians should learn to distinguish whether skin lesions originate from trauma or not. Key Words: Stretch marks, Physiologic striae, Physical child abuse, Forensic medicine.
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J Coll Physicians Surg Pak · Jan 2023
Case ReportsEndometrial Stromal Sarcoma with Cardiac Metastasis.
Cardiac metastases are the most common cardiac tumours. Any malignant tumour can metastasise to heart, but the most common causes of cardiac metastases are melanoma, lung, breast, oesophageal, and haematological malignancies. Endometrial stromal sarcoma (ESS) is a very rare endometrial malignancy. ⋯ Cardiac metastases of ESS are extremely rare. Herein, we present a case of ESS who underwent successful surgery for right atrial metastasis 23 months after the initial diagnosis. Key Words: Endometrial stromal sarcoma, Cardiac tumour, Cardiac metastasis.