Publications by authors named "Tulsi Ram Dhakal"

Key Clinical Message: Crigler-Najjar syndrome type 2 should be suspected in any young patient presenting with isolated indirect hyperbilirubinemia where all other common etiologies have been excluded. It is a relatively benign condition that responds to phenobarbitone.

Abstract: Crigler-Najjar syndrome (CNS) type 2 is an inborn cause of isolated indirect hyperbilirubinemia characterized by a partial deficiency of the enzyme uridine 5'-diphosphate-glucuronosyltransferase (UGT) responsible for bilirubin conjugation.

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Key Clinical Message: It is important for pregnant and breastfeeding women who adhere to a strict vegetarian diet to take appropriate steps to avoid vitamin B12 deficiency in their infants.

Abstract: Vitamin B12 deficiency is rare during infancy. The initial symptoms of this deficiency are subtle and may include irritability, failure to thrive with a decline in growth rate, apathy, anorexia, refusal of solid foods, megaloblastic anemia, and developmental regression.

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Article Synopsis
  • - Aortic aneurysm is a serious condition more common in patients with systemic lupus erythematosus (SLE), often diagnosed through imaging due to vague symptoms.
  • - Management involves medication for inflammation and high blood pressure, as well as surgery for larger or symptomatic aneurysms, with ongoing monitoring for complications.
  • - The case of a 49-year-old woman highlights the risk of aneurysm rupture, emphasizing the need for vigilant monitoring and timely medical intervention to prevent fatal outcomes.
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We report the case of a 62-year-old man who presented with shortness of breath, cough, bilateral lower limbs' swelling, and blackish discoloration of multiple fingertips over the past 2 months. Anti-Ribonucleoprotein antibodies were found to be present, and gadolinium-based cardiac MRI showed non-vascular subendocardial enhancement with diffuse symmetrical thickening of the left ventricular wall. A diagnosis of Mixed connective tissue disease with secondary cardiac amyloidosis was thus made, and the patient was successfully managed with intravenous cyclophosphamide, corticosteroids, and other supportive measures.

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