Juvenile sialidosis: a rare case and review of the literature.

Background: Sialidosis is a rare variety of lysosomal storage disease that results in intracellular accumulation of sialic acid containing compounds. The authors report the first case of type II sialidosis, juvenile subtype in a 30-month-old male child from Nepal. Case presentation: Progressive hearing loss with coarse facies, hepatomegaly, kyphoscoliosis, dysostosis multiplex were the major features in a 30-month-old child born to healthy non-consanguineous parents. With the suspicion of lysosomal storage disease, urinary oligosaccharides were tested and were positive. Whole-exome sequencing revealed a mutation in the neuraminidase gene (NEU1) and established the diagnosis of sialidosis. Clinical discussion: Sialidosis is a rare autosomal recessive type of lysosomal storage disease resulting due to mutation of the neuraminidase gene leading to intracellular accumulation of sialic acid compounds. Based on the presence of visual symptoms, sialidosis is classified into type I and II varieties. Our case is of type II juvenile sialidosis. Conclusion: Despite rare, sialidosis is a life-threatening, and disabling disease. Exploring targeted therapy is the utmost to treat this condition.

Recurrent Synovial Sarcoma with Breast and Pulmonary Nodule: A Case Report.

Synovial sarcoma is a mesenchymal tumour with partial epithelial differentiation. About 85-90% of SS occur in the extremities. We present a case of a 44-year-old woman diagnosed with recurrent synovial sarcoma with breast and pulmonary nodules. The primary treatment for synovial sarcoma is wide surgical excision, while chemotherapy is reserved for metastatic cases. In the first-line metastatic setting, combination treatment with adriamycin and ifosfamide is administered. Despite the unfavourable prognosis, the patient's extended survival is fortunately not the typical outcome. Keywords: case reports; chemotherapy; immunohistochemistry; synovial sarcoma.

Noise-induced Hearing Loss among Patients Requiring Pure Tone Audiometry Evaluation in a Tertiary Care Centre: A Descriptive Cross-sectional Study.

Introduction: Noise-induced hearing loss is a type of sensorineural hearing loss caused by long-term exposure to loud noise. This study provides insight into hearing loss problems the general population faces. The study aimed to find out the prevalence of noise-induced hearing loss among patients needing pure tone audiometry evaluation in a tertiary care centre. Methods: A descriptive cross-sectional study was conducted from 1 January 2021 to 30 July 2021 among patients requiring pure tone audiometry evaluation in the outpatient Department of Otorhinolaryngology in a tertiary care centre. The study was conducted after ethical approval from Institutional Review Committee (Reference number: 2812202001). Pure tone audiometry was used to diagnose noise-induced hearing loss. Convenience sampling was done. Point estimate and 95% Confidence Interval were calculated. Results: Out of 690 patients, 14 (2.02%) (0.97-3.06, 95% Confidence Interval) were diagnosed with noise-induced hearing loss. Conclusions: The prevalence of noise-induced hearing loss among patients requiring pure tone audiometry evaluation was similar to other studies conducted in similar settings. Keywords: audiometry; noise-induced hearing loss; tinnitus.

Middle Ear Barotrauma among Licensed Para-pilots of a Metropolitan City: A Descriptive Cross-sectional Study.

Introduction: Middle ear barotrauma is a tissue injury to the ear secondary to inadequate pressure equalisation between the middle ear and the external environment. Paragliding, though an exciting sport, has its own risks and hazards. Para-pilots experience a variety of ear-related symptoms due to pressure discrepancies between the middle ear and ambient air. Middle ear barotrauma amongst para-pilots is a common yet neglected problem. The aim of this study was to find the prevalence of middle ear barotrauma among licensed para-pilots of a metropolitan city. Methods: A descriptive cross-sectional study was conducted amongst para-pilots practising in different paragliding companies in a metropolitan city. The study was conducted from 10th October, 2021 to 22nd October, 2021 after getting ethical approval from the Institutional Review Committee (Reference number: 0410202109/2021). A sample size of 76 participants was taken using convenience sampling technique. Data was collected from participants after performing an otoscope examination. The data were entered into Microsoft Excel version 2016 and analysed using the Statistical Package for the Social Science Version 22.0. Point estimate at a 95% Confidence Interval was calculated along with frequency and proportion for binary data and mean and standard deviation for continuous data. Results: Out of 76 participants, the prevalence of middle ear barotrauma was 10 (13.2%) (5.58-20.81 at 95% Confidence Interval). Conclusions: The prevalence of middle ear barotrauma was similar to other studies done in similar settings. Keywords: barotrauma; eustachian tube; Nepal; pilots.