Pak J Med Sci
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To assess age, gender distribution and relative frequency of congenital heart disease (CHD) in children who underwent palliative or corrective cardiac surgery at Rehman Medical Institute, Peshawar. ⋯ Out of 123 patients, there were 71 males (57.7%) and 52 females (42.2%), with male to female ratio of 1.3:1. Sixty five (52.8%) of the total cases had acyanotic heart defects. Cyanotic heart defects were seen in 58 patients (47.1%). Ventricular Septal Defect (VSD) followed by Patent Ductus Arteriosus (PDA) and Atrial Septal Defect (ASD), were the commonest acyanotic heart lesions, 33.8%, 23.0% and 16.9% respectively. Tetralogy of Fallot (TOF) was the commonest cyanotic lesion. Conclusion : Majority of patients with congenital heart disease had acyanotic CHD with the commonest lesion being VSD. Tetralogy Of Fallot (TOF) was the commonest cyanotic lesion. Most of the patients were less than five years with no significant difference in sex distribution. Availability of expertise locally will lead to more patients getting surgical treatment at an earlier age thereby reducing morbidity and mortality and improving quality of life for these children.
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5-Fluorouracil (5-FU) is an integral part of treatment of GI malignancies. While normal DPD enzyme activity is rate limiting in 5-FU catabolism, its deficiency could increase concentrations of bioavailable 5-FU anabolic products leading to 5-FU related toxicity syndrome. METHODOLOGY: Twenty-three patients were tested for DPD deficiency after excessive toxicities from 5-FU and/or capecitabine. DPD activity was evaluated by Peripheral Blood Mononuclear Cell (PBMC) radioassay, genotyping of DPYD gene by Denaturing High Performance Liquid Chromatography (DHPLC), or 2-(13)C uracil breath test (UraBT). ⋯ DPD deficiency was observed in several ethnicities. Akin to 5-FU, capecitabine can also lead to severe toxicities in DPD-deficient patients. Screening patients for DPD deficiency prior to administration of 5-FU or capecitabine using UraBT could potentially lower risk of toxicity. Future studies should validate this technique.