JNMA; journal of the Nepal Medical Association
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JNMA J Nepal Med Assoc · Sep 2022
Case ReportsCompound Heterozygous MYO5B Mutation, a Cause of Infantile Cholestasis: A Case Report.
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. ⋯ 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.
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JNMA J Nepal Med Assoc · Sep 2022
Morphological variations in Placentas among Deliveries in the Department of Obstetrics and Gynaecology in a Tertiary Care Centre: A Descriptive Cross-sectional Study.
The full term human placenta is a flattened discoidal mass with an approximately circular or oval outline. However, variations can be present in the morphology in the form of bidiscoidal shape, lobed, diffused, fenestrated or circumvallate. The objective of the study was to find out the prevalence of morphological variations in placentas among deliveries in the Department of Obstetrics and Gynaecology in a tertiary care centre. ⋯ The prevalence of morphological variations in placentas was found to be higher than the studies done in similar settings.
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JNMA J Nepal Med Assoc · Sep 2022
Warts among Patients Visiting the Outpatient Department of Dermatology in a Tertiary Care Centre: A Descriptive Cross-sectional Study.
Warts are benign epithelial proliferations caused by a double-stranded deoxyribonucleic acid virus called human papillomavirus. They may cause significant concern and frustration on the part of the patient affecting social activities as lesions can be uncomfortable, and treatment is often painful and frustratingly ineffective. The study aimed to find out the prevalence of warts among patients visiting the outpatient Department of Dermatology in a tertiary care centre. ⋯ The prevalence of warts among outpatients was similar when compared to other studies from similar settings.
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JNMA J Nepal Med Assoc · Sep 2022
Type II Lip Pattern among Medical Students in a Medical College: A Descriptive Cross-sectional Study.
The study of human identification is of great value in forensic medicine. Lip patterns have unique nature and individualism so can be used for human identification. The aim of this study was to find out the prevalence of Type II lip print patterns among medical students in a medical college. ⋯ The prevalence of Type II lip pattern among medical students was similar to other studies done in similar settings.
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JNMA J Nepal Med Assoc · Sep 2022
Case ReportsUse of Novel Biological Agent in Severe Ulcerative Colitis with Poor Response to Initial Therapy: A Case Report.
Ulcerative colitis is a condition of chronic inflammation affecting the large intestine. The disease is typically characterized by periods of active inflammation alternating with periods of remission. ⋯ The patient was initially treated with mesalamine and azathioprine which did not result in significant clinical improvement but the addition of subcutaneous adalimumab showed a remarkable response with drastic improvement in just one year of treatment. Hence, adalimumab could be considered as an option in the management of severe cases in Nepal.