RESUMEN
Background: Hereditary Tyrosinemia Type 1 (HT1), a rare autosomal recessive metabolic disorder, arises from fumarylacetoacetate (FAH) enzyme deficiency, resulting in toxic metabolite buildup. It manifests in acute, subacute, and chronic forms, with early diagnosis and Nitisinone treatment being vital. Objectives: The study aims to highlight the different clinical presentations of Hereditary Tyrosinemia type 1 in a cohort of Pakistani children. Design: Retrospective observational study. Methodology: All patients diagnosed with HT1 at Shifa International Hospital, Islamabad and Pak Emirates Military Hospital, Rawalpindi between 2010 and 2023 were included. Information was collected regarding age, gender, symptoms, physical signs, and laboratory results. Results: The study identified 6 cases of HT1. The average age at presentation was 8 months, with a mean delay in diagnosis of 26.8 months. Males were 4 (66.7%) and 2 (33.3%) were females. All patients had underlying liver disease presenting as abdominal distension with hepatosplenomegaly and accompanying growth failure. Four cases presented with rickets, 2 of which had hypophosphatemic rickets. Urine for succinylacetone was raised in all patients. Alpha fetoprotein was raised but hepatocellular carcinoma was diagnosed in 1 patient only. Low protein diet, and vitamin supplements were used for management. Five of the 6 patients died within 2 years of diagnosis. Conclusion: Delayed referrals and unavailability of Nitisinone are the major challenges in diagnosing and treating HT1 in Pakistan.
RESUMEN
BACKGROUND: Use of smoke-less tobacco (SLT) is very common in South and South-East Asian countries. It is significantly associated with various types of cancers. The objectives of this study were to assess the proportion of hospital staff that use SLT, and to identify the factors associated with its use and their practices. METHODS: In a cross-sectional study, 560 staff of two tertiary care hospitals were interviewed in the year 2009. Nurses, ward boys and technicians were counted as a paramedic staff while drivers, peons, security guards and housekeeping staff were labeled as non-paramedic staff. SLT use was considered as usage of any of the following: betel quid (paan) with or without tobacco, betel nuts with or without tobacco (gutkha) and snuff (naswar). RESULTS: About half (48.6%) of the hospital staff were using at least one type of SLT. Factors found to be statistically significant with SLT were being a male (OR=2.5; 95% CI=1.8-3.7); having no/fewer years of education (OR=1.7; 95% CI=1.2-2.4) and working as non-paramedic staff (OR=2.6; 95% CI=1.8-3.8). Majority of SLT users were using it on regular basis, for >5 years and keeping the tobacco products in the oral cavity for >30 minutes. About half of the users started due to peer pressure and had tried to quit this habit but failed. CONCLUSION: In this study, about half of the study participants were using SLT in different forms. We suggest educational and behavioral interventions for control of SLT usage.