Objective: Single gene mutations leading to severe obesity have so far been identified in 3-5% cases in European populations. However, prevalence of these pathogenic mutations has not systematically been examined in specific consanguineous populations. Here we describe the incidence of obesity-associated mutations through a step-wise sequence analysis, in a cohort of 73 Pakistani children with severe obesity from consanguineous families. Methods: Initially, all subjects were screened for mutations in coding regions of leptin (LEP) and melanocortin 4 receptor (MC4R) genes by direct sequencing. Subjects negative for mutation in these genes were screened using microdroplet PCR enrichment and NGS. Genomic structural variation was assessed by genotyping. Serum leptin, insulin, and cortisol were determined by ELISA. Results: Among 73 children with severe obesity (BMI SDS > 3.0), we identified 22 probands and 5 relatives, carrying 10 different loss-of-function homozygous mutations in LEP, leptin receptor (LEPR), and MC4R genes, including 4 novel variants. Hypercortisolemia was significantly emphasized in LEP mutation carriers. Conclusions: The prevalence of pathogenic mutations in genes known to directly influence leptinmelanocortin signaling is 30% in our cohort. The results of this study emphasize the desirability of undertaking systematic and in-depth genetic analysis of cases with severe obesity in specific consanguineous populations.

Objective:To determine the causes of medical errors, the emotional and behavioral response of pediatric medicine residents to their medical errors and to determine their behavior change affecting their future training.Methods:One hundred thirty postgraduate residents were included in the study. Residents were asked to complete questionnaire about their errors and responses to their errors in three domains: emotional response, learning behavior and disclosure of the error. The names of the participants were kept confidential. Data was analyzed using SPSS version 20.Results:A total of 130 residents were included. Majority 128(98.5%) of these described some form of error. Serious errors that occurred were 24(19%), 63(48%) minor, 24(19%) near misses,2(2%) never encountered an error and 17(12%) did not mention type of error but mentioned causes and consequences. Only 73(57%) residents disclosed medical errors to their senior physician but disclosure to patient’s family was negligible 15(11%). Fatigue due to long duty hours 85(65%), inadequate experience 66(52%), inadequate supervision 58(48%) and complex case 58(45%) were common causes of medical errors. Negative emotions were common and were significantly associated with lack of knowledge (p=0.001), missing warning signs (p=<0.001), not seeking advice (p=0.003) and procedural complications (p=0.001). Medical errors had significant impact on resident’s behavior; 119(93%) residents became more careful, increased advice seeking from seniors 109(86%) and 109(86%) started paying more attention to details. Intrinsic causes of errors were significantly associated with increased information seeking behavior and vigilance (p=0.003) and (p=0.01) respectively.Conclusion:Medical errors committed by residents have inadequate disclosure to senior physicians and result in negative emotions but there was positive change in their behavior, which resulted in improvement in their future training and patient care.

Objective:To determine the knowledge of patient safety among postgraduate residents (PGR) and nurses in a tertiary care hospital.Methods:This casual comparative study was conducted among the postgraduate residents and nurses working at The Children’s Hospital Lahore in the month of July, August 2017. Both PGR and nurses were asked to complete APSQ-IV questionnaire about patient safety on 7 point Likert scale. Data was analyzed using SPSS version 20 and t-test was used to compare the mean score between two groups. The names of the participants were kept confidential.Results:A total of 150 residents and 150 nurses were included. The scores of both postgraduate residents and nurses were similar in all domains having positively worded questions with insignificant difference in mean score (p=0.141). In the reverse coded questions the nurses showed positive perception with higher mean score as compared to postgraduate residents (p=0.004). The postgraduate residents in the early years of residency had higher mean score in positively worded question as compared to residents who were in last years of training (p=0.006). There was no difference in the mean score of nurses as regard to their years of experience (p=0.733). Medical error disclosure domain was reported lowest by both postgraduate residents and nurses.Conclusion:Both postgraduate residents and nurses showed positive attitude with good knowledge and perception towards patient safety. Lowest rated scores were from error disclosure confidence domain.

Objective:The present study aimed to determine the frequency and antimicrobial profile of ESBL-producing isolates of E. coli in different environments.Methods:This cross-sectional study was conducted at The Children’s Hospital and The Institute of Child Health, Lahore from July to December 2015. The faecal specimens from healthy individuals, patients, sewage sludge, cattle, chickens and raw meat (n = 122) were processed for microbiological analysis using MacConkey agar supplemented with cefotaxime. The identification of organisms was confirmed by API 10S and antimicrobial resistance profile was recorded by Kirby-Bauer disc diffusion method.Results:On the basis of screening, 77 (63.0%) specimens were found to be positive for ESBL production. The confirmation of 74 (60.0%) ESBL producing E. coli was done using double disc synergy test (DDST). The frequency of ESBL producing E. coli was found to be 17 (57.0%) in healthy individuals, 15 (53.0%) in patients, 10 (66.0%) in cattle faeces, 5 (71.0%) in sewage sludge, 14 (70.0%) in raw meat and 13 (59.0%) in chicken faeces. All of these isolates were resistant to cephalosporins and some of these were resistant to fluoroquinolones and meropenem. None of the isolates showed resistance to cefoperazone-sulbactam, imipenem, piperacillin-tazobactam and amikacin.Conclusion:The prevalence of ESBL-producing E. coli was recorded in all the environments, suggesting a global expansion of these enzymes.

Objective:To determine the correlation between serum folic acid, vitamin B12 and ferritin of mother and child and to study various neonatal risk factors as a cause of anemia in children.Methods:One hundred eighty children two months to two years of age admitted in the department of Pediatric Medicine of The Children’s Hospital and The Institute of Child Health Lahore from January 2013 to January 2015 with common medical conditions having anemia were included. Complete blood count (CBC), serum ferritin level, folic acid and Vitamin (Vit) B12 level were sent of children and their mothers. Data was analyzed using SPSS version 20.Results:Out of 180 children with anemia, 66.7% were males. Mean age of children was 7.3months. Fifty-five percent children were malnourished according to z scoring. The mean Hemoglobin (Hb) of children was 8 g/dl. Only 4% children had low ferritin level while 60% had low folic acid and 45% had decreased VitB12. There was significant correlation between Hb of mother and child (p =0.02), Vit B12 deficiency (p=0.008) and iron deficiency (p<0.001). Premature children had lower folic acid levels (p =0.02), while prematurity, IUGR, previous admission and history of sepsis showed no association with anemia in our study. Both breast-feeding and top feeding showed significant association with anemia with p-value of 0.042 and 0.003 respectively while dilution showed no impact on anemia.Conclusion:Maternal anemia has a significant impact on child’s hemoglobin. As compared to previous concept of increased iron deficiency in children we found increased occurrence of folic acid and VitB12 deficiency in children and their mothers.