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Denaturing high-performance liquid chromatography (dHPLC) was developed to screen DNA variations by separating heteroduplex and homoduplex DNA fragments by ion-pair reverse-phase liquid chromatography. In this study, we have evaluated the dHPLC screening method and direct sequencing for the detection of GATA1 mutations in peripheral blood and bone marrow aspirates samples from children with Down syndrome (DS). Cases were ascertained consecutively as part of an epidemiological study of DS and hematological disorders in Brazil. A total of 130 samples corresponding to 115 children with DS were analysed using dHPLC and direct sequencing methods to detect mutations in GATA1 exons 2, 3 and 4 gene sequences. The overall detection rate of sequencing and dHPLC screening methods was similar. Twenty mutations were detected in exon 2 and one mutation in exon 3 (c.231_232 dupGT) sequences of acute megakaryoblastic leukemia and transient leukemia samples. Four GATA1 mutations were newly described [c.155C > G; c.156_178 del23 bp; c.29_30 del GG; c.182C > A and c.151A > T,c.153_162 del 10 bp). Out of four, three had single nucleotide change. In conclusion, our results indicate that dHPLC is an efficient and valuable tool for GATA1 mutational analysis. [ABSTRACT FROM AUTHOR]

Background Patients might need urgent care in critical cases. Limited resources and limited manpower are limitations seen in developing countries. Very few studies have been conducted on drug utilization in the emergency department in Nepal. Objective To find out the drug utilization pattern and the cost of medicines in emergency medicine department as per WHO drug use indicators. Method The study design was a hospital based retrospective cross-sectional study done at the emergency department of KIST Medical College and Teaching Hospital, Lalitpur, Nepal. The study population were patients visiting the emergency department. The data was collected during the period from April to June 2023. Data was collected for one month from each quarter for the year 2023 from the medical records of the patients from the medical records section. A structured proforma was used for the data collection process. Census sampling method was used. Result Maximum patients, 257 (25.1%) were from age group 21-30 years. Females were slightly more than males, 537 (50.5%). The top three diagnosis among the admitted patients were soft tissue injury, 148 (13.9%), dengue fever, 138 (12.9%) and viral fever, 51 (4.7%). Maximum patients, 346 (32.5%) were given two therapeutic classes of drugs, followed by only one therapeutic class of drug for 251 (23.6%) patients. The common classes of drugs prescribed for the patients were analgesics, 639 (60.1%) followed by intravenous fluids, 410 (38.5%) and antiulcer drugs, 377 (35.4%). The total cost of drugs used was calculated as Rs. 305126.4 (2280.99 USD) and the average cost per patient was Rs. 297.97 NPR; 2.23 USD. The WHO drug prescribing indicators showed maximum percentage, (85.4%) of encounters with injection prescribed followed by the percentage of drugs prescribed from the Nepalese National List of Essential Medicines 81.71%. Conclusion On the basis of the findings from this study injection prescribing, and the number of drugs prescribed per encounter showed considerable deviation from the standards recommended by the WHO. Hence, it is important for the hospital to design and implement a system to promote judicious prescribing and injection medication administration.