Browsing by Author "Sharma, Arun Kumar"
Now showing 1 - 3 of 3
Results Per Page
Sort Options
Publication Compound Heterozygous MYO5B Mutation, a Cause of Infantile Cholestasis: A Case Report(Nepal Medical Association, 2022) Khanal, Muna; Jha, Adarsh Kumar; Sharma, Arun KumarAbstract Infantile cholestasis is a common clinical problem in early infancy characterised by impairment in bile formation and/or flow. It requires prompt evaluation for underlying aetiology to initiate appropriate management. Although biliary atresia remains the most important aetiology, metabolic and monogenic disorders are increasingly identified with advances in diagnostic genetic testing. Progressive familial intrahepatic cholestasis disorders characterised by defects in biliary canalicular transport are among the most common monogenic disorders of cholestasis. Homozygous or compound heterozygous mutation in the Myosin 5B gene leading to a progressive familial intrahepatic cholestasis-like phenotype with or without intestinal features of microvillus inclusion disease is a relatively recently identified disorder. The incidence of these newer variants of progressive familial intrahepatic cholestasis is not yet known due to the paucity of studies. We report an uncommon cause of refractory cholestasis reported in a girl who presented with severe pruritus as the primary manifestation.Publication Hemangioblastoma: An Uncommon Cause of Polycythemia in a Child(Nepal Health Research Council, 2023) Aryal, Surabhi; Sharma, Arun KumarAbstract Polycythemia is a rare condition in children. Myeloproliferative neoplasms, including polycythemia vera although rare, is an important cause of childhood primary polycythemia. Secondary polycythemia is more common in children due to conditions causing hypoxia or due to pathologic erythropoietin production in malignancies like renal cell carcinoma, Wilms tumor or Hepatocellular carcinoma. Central nervous system hemangioblastoma is one of the rare causes of polycythemia. We report a 13-year-old girl with primarily neurological symptoms identified to be polycythemic during routine evaluation. Clinical examination and neuroimaging subsequently confirmed an intracranial space occupying lesion which was excised. Hemoglobin level normalized after tumor excision. This case report emphasizes the need for thorough systemic evaluation including central nervous system examination in children identified to be polycythemic. Keywords: CNS tumor; hemangioblastoma; polycythemiaPublication Prevalence of Asthma, Eczema and Allergic Rhinitis Symptoms in School Children of Kathmandu Valley: Results of a Questionnaire Survey(Nepal Paediatric Society (JNPS), 2018) Sharma, Arun Kumar; Basnet, Sudha; Thapa, Surya BAbstract: Introduction: Asthma is the most common chronic disease in children. This study was performed to determine the prevalence of asthma, eczema and allergic rhino-conjunctivitis symptoms in school children of Kathmandu. Methods: This questionnaire-based survey was conducted from December 2009 to August 2010 in 13 schools of Kathmandu among children aged six to seven years and 13 to 14 years based on questions adapted from International Study on Asthma and Allergies in Children (ISAAC) and translated into Nepali. Data were analysed using SPSS and prevalence of self-reported asthma-like symptoms, eczema and allergic rhinitis were assessed. Results: The questionnaire was distributed to 8269 children with a response rate of 68.54%. About 7.5% replied positively for "ever wheezed” (8.1% in older and 6.4% in young children) and 5.2% reported, "current wheeze" (4.2% in younger and 5.8% in older children). Boys had more frequent wheezing than girls in both age groups (p < 0.05). More children had nocturnal cough not associated with cold or chest infection (16.0%) and exercise-induced symptoms (9.4%). The overall prevalence of eczema was 6.2%; younger children (7.2%) reporting symptoms more commonly than older children (5.6%). The reported prevalence of allergic rhinitis was 28.2% (31.2% in older as compared to 22.9% in younger children). Allergic symptoms like “current wheeze”, “eczema” and “allergic rhinitis” were frequently reported together. Conclusion: Asthma, eczema and allergic rhinitis are common in school children of Kathmandu. A multi-centre study across all ecological zones in both rural and urban settings including video questionnaire will more accurately estimate asthma prevalence and its trends in school children of Nepal.