JNMA; journal of the Nepal Medical Association
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JNMA J Nepal Med Assoc · Jun 2023
Case ReportsTuberous Sclerosis Complex in a 17-month-old: A Case Report.
Tuberous sclerosis complex is a rare autosomal dominant genetic disorder that affects multiple organ systems, primarily affecting the central nervous system. It develops with a pathogenic mutation in tumour suppressor genes i.e. Tuberous Sclerosis Complex 1 or Tuberous Sclerosis Complex 2 which codes for protein hamartin and tuberin leading to unopposed hyperactivation of the mammalian target of the rapamycin signalling pathway. It presents with a triad of facial angiofibroma, intellectual disability, and epilepsy. We present a case of a 17-month female toddler with abnormal body movement with loss of consciousness and later developing into generalised jerky movements. On magnetic resonance imaging, a diagnosis of tuberous sclerosis was made. The patient underwent symptomatic management with anti-epileptic. As seizures in these cases are subtle, they remain undiagnosed for a long time leading to delays in management and developing refractory seizures. ⋯ angiofibroma; case reports; seizures; tuberous sclerosis; tumor suppressor gene.
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JNMA J Nepal Med Assoc · Jun 2023
Mean Warm Ischemia Time among Kidney Transplant Patients in a Tertiary Care Centre: A Descriptive Cross-sectional Study.
In renal transplantation, warm ischemia time is the interval from the removal of a procured kidney from ice storage to initiating graft reperfusion. Successful kidney transplantation depends on warm ischemia time. The study aims to find the mean warm ischemia time among kidney transplant patients in a tertiary care centre. ⋯ kidney transplantation; prevalence; warm ischemia.
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JNMA J Nepal Med Assoc · Jun 2023
Dengue Fever among Patients Visiting the Outpatient Department of Dermatology in a Tertiary Care Centre: A Descriptive Cross-sectional Study.
Dengue is in an increasing trend in our part of the world mostly due to global warming, It can present with various manifestations including cutaneous manifestations. The main objective of our study was to find out the prevalence of dengue fever among patients visiting the Outpatient Department of Dermatology in a tertiary care centre. ⋯ dengue fever; prevalence; rash.
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JNMA J Nepal Med Assoc · Jun 2023
Traumatic Brain Injury among Patients Admitted in Neurosurgical Unit in a Tertiary Care Centre: A Descriptive Cross-sectional Study.
Traumatic brain injuries are one of the leading causes of mortality, morbidity, and economic burden in context to Nepal. Non-contrast computed tomography is used for rapid diagnosis and repeat computed tomography helps to detect the progression and complications of cerebral injury. The aim of this study was to find out the prevalence of traumatic brain injury among patients admitted in the neurosurgical unit in a tertiary care centre. ⋯ contusion; craniotomy; traumatic brain injury.
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JNMA J Nepal Med Assoc · Jun 2023
Case ReportsAnti-Glomerular Basement Membrane Disease in a 10-year-old Child: A Case Report.
Anti-glomerular basement membrane disease is an extremely uncommon entity in children. It has an incidence of 0.5 to 1 per million per year in adults and is even more uncommon in children. It occurs due to autoantibody against glomerular basement membrane collagen and is characterized by rapidly progressive glomerulonephritis with or without pulmonary hemorrhage. As the literature on anti-glomerular basement membrane disease is limited from our part of the world, it is important to consider it as the rare cause of rapidly progressive glomerulonephritis as early intervention improves prognosis. We report a case of a 10-year-old male who initially presented with glomerulonephritis and later was diagnosed with anti-glomerular basement membrane disease. ⋯ basement membrane; case reports; glomerulonephritis; kidney.