The prevalence of metabolic disorders in Nepal is yet unknown, although many case reports occur in literature. Heel-prick blood samples from newborns were collected on Dried Blood Spot (DBS) collection cards and tested through Tandem Mass Spectroscopy and fluorescence assays for disorders included in the Swiss neonatal screening program; two cases of hypothyroidism and one case of cystic fibrosis were identified. Thyroid stimulating hormone (TSH), immuoreactive trypsinogen (IRT), hydroxyprogesterone (OHP), tyrosine (Tyr), and octanoylcarnitine (C8) showed significant differences with gestation age. Most of the parameters were positively correlated with each other except galactose, galactose 1 phosphate uridyl transferase (GALT), and biotinidase. First and ninety-ninth percentiles in the Nepalese newborns were found to be different when compared with the Swiss newborns. Congenital hypothyroidism and cystic fibrosis are candidates to be considered for a newborn screening program in Nepal. Differences between the Nepalese and Swiss newborns in parametric values that change with gestation age can be attributed to a higher survival rate of pre-term babies in Switzerland. Others could be explained in part by early and exclusive breastfeeding in Nepalese newborns.

Introduction: Children present with different renal diseases with variations according to different geographic locations. This study aims to determine the trend of pediatric renal disease presenting. Method: This retrospective study from pediatric nephrology clinic register during 2008 to May 2018 at Patan Hospital, Patan Academy of Health Sciences, Nepal to analyze the changing pattern of renal disease. The prevalence and characteristic of renal diseases were compared between the 1st and 2nd 5-y period, the age at presentation and gender was analyzed. Mean age at presentation was analyzed by independent t-test, a p-value <0.05 was considered significant. The study was approved by the ethical committee. Result: A total of 352 children visited the nephrology clinic, male:female ratio 1.42:1, mean age 6.25±4.5 y, the majority in 0-5 y. Congenital anomalies of the kidney and urinary tracts (CAKUT) were 39%, mostly vesicoureteral reflux. Acute glomerulonephritis and the nephrotic syndrome were seen in 32.7% and 23.6%. Children <5 y of age presented with CAKUT while ≥5 y with acute glomerulonephritis. The mean age at presentation for CAKUT was 2.9±3 y and acquired diseases 8.46±3.91 y, p-value<0.05; and for glomerulonephritis 9.8±2.91 y and nephrotic syndrome 6.91±4.08 y, p-value<0.05. Conclusion: There was a decrease in the number of children visiting the nephrology clinic. Children <5 y presented with CAKUT while ≥5 y had acquired conditions. Children with acute glomerulonephritis were of a higher age than children with nephrotic syndrome.

Introduction: Type 1 Diabetes Mellitus (DM1) has reportedly a high proportion of initial presentation as diabetic ketoacidosis, more in resource-poor settings. This study was designed to assess the demographics and clinical characteristics of DM1 patients as well as their perception of diabetes management in local scenario. Method: This is a cross-sectional study of data collected prospectively by a questionnaire survey among young patients with DM1 presenting to Medical and Paediatric Referral Clinics of Patan Hospital, Nepal during April 2016 to June 2016. Ethical approval was obtained. Demographics, and disease process- initial presentation of diabetic ketoacidosis, HBA1c target, and common problems were analyzed by SPSS using chi-square and Fisher exact tests, p<0.05 considered statistically significant. Result: Fifty-eight patients were enrolled in the study. Diabetic ketoacidosis was the initial presentation in 27(46.55%). A 15(27.78%) of surveyed patients had achieved age-specific goals of the HbA1c target. Financial issues and difficulty to come for regular follow-ups were the common problems in diabetes management. Conclusion: Diabetic ketoacidosis was a common initial presentation in nearly half of the DM1 patients. Three quarter of them didn’t have adequate control of the disease with age-specific goals of the HbA1c target.

Introduction: Neonatal sepsis is one of the leading causes of mortality worldwide. Knowing the association of thrombocytopenia to the specific organism can help to choose the correct antibiotic before a culture sensitivity report becomes available. Hence, this study was planned to find out if thrombocytopenia is associated with any specific type of organism in neonatal sepsis and higher mortality. Method: It was a retrospective observational study done at the neonatal intensive care unit at Patan Hospital. The samples were taken over three years, from April 2018 to March 2021. All culture-positive sepsis within the study period were included. The cases whose files were missing were excluded. Neonatal sepsis was defined as cases where a blood culture was positive for the organism. The data was analyzed using SPSS 16. Result: There were 51 cases whose analysis was done. Klebsiella 25(49.02%) and Acinetobacter 11(21.57%) were the most common organisms. Fifty-nine percent of cases had thrombocytopenia among which 5(10%), 6(12%), and 19(37%) had mild, moderate, and severe thrombocytopenia, respectively. Klebsiella sepsis was significantly associated with thrombocytopenia (p-value 0.001). The sensitivity of Klebsiella to Meropenem and Colistin was 70% and 100% respectively. Mortality was not associated with thrombocytopenia. Conclusion: In the study, thrombocytopenia was associated with Klebsiella sepsis in neonates. Hence, in thrombocytopenic patients with clinical suspicion of sepsis, proper antibiotics to cover Klebsiella should be started empirically till a blood culture report becomes available.

Introduction: The incidence of seizure is as high as 5/1000 live births and the mortality rate can be up to 15%. So this study was conducted to find out the clinical profile, causes and immediate outcome of neonatal seizures at Patan Hospital. Methods: In this retrospective study, all neonates (aged 0-28 days) with seizure admitted to Patan Hospital over a period of one year from January 2015 to December 2015 were included. The data were obtained from hospital records and analyzed using SPSS 12. Results: There were 32 cases of neonatal seizures admitted over the period of one year out of which 23 were born at Patan Hospital. The incidence of neonatal seizure was 2.9 cases of per 1000 live birth. Among neonates with seizure, 63% were male, 81% were term and 69% were of birth weight more than 2500gm. The cause of seizure was hypoxic ischemic encephalopathy in 25% of cases and no cause could be found in 15% of cases. Phenobarbitone alone controlled seizure in more than 50% of cases. The mortality rate was 9.3% with hypoxic ischemic encephalopathy being the most common cause. Conclusion: The most common cause of neonatal seizure is hypoxic ischemic encephalopathy and is also the leading cause of death in neonates with seizure. Therefore improvement in healthcare during the delivery of newborns can decrease the incidence and death due to neonatal seizure.

Introduction: COVID-19 is a disease caused by novel coronavirus SARS-CoV-2 that led to a global epidemic resulting in significant morbidity across all ages. This study is intended to find out the clinical presentation of COVID-19 in children and to compare them among different age categories in children. Method: This is a retrospective study done over the period of one year in COVID facility of Patan hospital. Demographic and clinical profile of children who were tested positive by polymerase chain reaction (PCR) were recorded. The data was compiled in Microsoft Excel 2021 and exported to Statistical Package for Social Sciences (SPSS) Version 27. Result: During the study period 1639 children were admitted in Patan Hospital with 136(8.30%) of them in the COVID facility. Among these, 41(30.14%) tested positive for SARS-CoV-2 with the median age of 2 years and 26(63.41%) were male. The cases were evenly distributed among infants 13(31.71%), under five 14(34.14%) and 5-14 years old 14(34.14%). The asymptomatic children were 8(19.51%) while 17(41.46%) had mild symptoms. Infants and preschool children had less severe presentation as compared to older children. Fever 33(80.45%) and cough/difficulty in respiration 8(19.51%) were the most common symptoms while respiratory signs like crackles 15(36.59%) and subcostal recession 9(21.95%) were the most common. Conclusion: SARS-COV-2 infection in children present with mild symptoms. Fever, respiratory signs and symptoms were common. There were no differences in morbidity among different age categories.