JNMA; journal of the Nepal Medical Association
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JNMA J Nepal Med Assoc · Dec 2022
Case ReportsExtragonadal Mixed Germ Cell Tumour of the Right Scapular Region: A Case Report.
Extragonadal germ cell tumours are rare; to the best of our knowledge, a location in the soft tissue of the right scapular region has never been previously reported in the literature. We report a case of a 9-years-old girl who presented with swelling over the right scapular region, treated by a combination of surgery and cisplatin-based chemotherapy. Immunohistochemistry and serum tumour markers concluded it to be an extragonadal mixed germ cell tumour. Our patient had a complete response up to 2 years of follow-up. This case is being reported here due to a very rare site of presentation with a diagnostic dilemma. A multidisciplinary, combining systemic chemotherapy and surgery is the most appropriate treatment strategy for extragonadal germ cell tumours, to ensure both local and systemic control. ⋯ germ cell tumor; immunohistochemistry; tumor markers.
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JNMA J Nepal Med Assoc · Dec 2022
Case ReportsIntracranial Calcification and Seizure with Down Syndrome: A Case Report.
Down syndrome is a genetic disorder caused by an extra copy of chromosome number 21. New onset of seizure in adults with Down syndrome is rare. The exact pathogenesis of intracranial calcification and seizure in Down syndrome is unknown, however, a possible association between hypocalcemia and vitamin D deficiency in Down syndrome was reported. An 18-year-old girl with nasal bridge, mongoloid slants, clinodactyly and saddle gap of toes, and prominent Downs phenotypes was present with a low level of parathyroid hormone, calcium, and vitamin D. Due to a higher prevalence of intracranial calcification in people with Down syndrome, there is an increased possibility of hypocalcemia and vitamin D deficiency. Hence, serum levels of calcium and vitamin D should always be checked before starting treatment with anti-epileptic drugs. ⋯ basal ganglia; Down syndrome; seizure; trisomy 21.
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JNMA J Nepal Med Assoc · Dec 2022
Mean Micronuclei Score in Fine-Needle Aspiration Cytology of Patients with Malignant Breast Lump in the Department of Pathology in a Tertiary Care Centre: A Descriptive Cross-sectional Study.
Micronucleus is used as a biomarker of chromosomal instability, which is one of the hallmarks of neoplastic transformation. As micronuclei score increases with malignancy, it can be an effective and inexpensive adjunct to breast fine needle aspiration cytology, in diagnosing breast lumps, especially detecting grey lesions between benign and malignant tumours. The aim of this study is to find out the mean micronuclei score in fine-needle aspiration cytology of patients with malignant breast lumps in the Department of Pathology in a tertiary care centre. ⋯ biomarker; breast neoplasm; chromosomal instability; fine-needle aspiration.
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JNMA J Nepal Med Assoc · Dec 2022
Acute Kidney Injury among Patients Visiting the Nephrology Unit in a Tertiary Care Centre: A Descriptive Cross-sectional Study.
Acute kidney injury is an abrupt decline in renal function often associated with a decrease in urine output. It is the leading cause of in-hospital mortality worldwide with prolonged hospital stays, the requirement of mechanical ventilation and short-term dialysis. The aim of the study was to find out the prevalence of acute kidney injury among patients visiting the Nephrology unit in a tertiary care centre. ⋯ acute kidney injury; mortality; renal replacement therapy.
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Takayasu's arteritis is a chronic vasculitis of medium and large vessels. The most involved vessel is the aorta and its major branches. The disease is primarily seen in young women. The described incidence of the disease ranges from 0.3 to 3.3 million per year. The vessels are characterized by mononuclear infiltration and granulomatous inflammation of vascular media, which leads to arterial wall thickening with stenosis, occlusion, and aneurysmal dilation. Here we present a case of Takayasu's arteritis in a 26-year-old woman who presented with syncope and dizziness with thickened walls of the arch of the aorta and its branches in Magnetic Resonance Imaging angiogram finding. Women of Japanese descent are not the only ones who can develop Takayasu's arteritis; it can affect anyone. Therefore, early diagnosis and treatment are warranted. When the disease is dormant, the outcome seems favourable. ⋯ aortitis syndrome; arteritis; case reports; pulseless disease; young female arteritis.