Objective To evaluate the outcome of Coronavirus disease 2019 (COVID-19) infection in children and adolescents with tuberculosis. Methods We analyzed hospital records for the period May, 2020 to September, 2021 for children who were severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) reverse transcriptase-polymerase chain reaction (RT-PCR) positive or SARS-CoV-2 antibody positive. They were divided into two groups viz., those with tuberculosis (tuberculosis group) and those without tuberculosis (non-TB group). Demographic information, symptoms, and outcomes of COVID-19 were compared between the two groups. Results Median (IQR) age of participants was 11 (8,14) and 4.5 (2,9) year for the tuberculosis and non-TB groups, respectively. 93.5% and 36.1% of children were asymptomatic in the tuberculosis and non-TB group, respectively. No variable in the study was significantly associated with COVID-19 positivity in children with tuberculosis. No difference was found in the outcomes of COVID-19 infection in children having tuberculosis. Conclusions No differences were noted in the outcomes of COVID-19 infection in children having tuberculosis.

While de novo mutations (DNMs) are key to genetic diversity, they are also responsible for a high number of rare disorders. To date, no study has systematically examined the rate and distribution of DNMs in multiplex families in highly consanguineous populations. Leveraging WGS profiles of 645 individuals in 146 families, we implemented a combinatorial approach using 3 complementary tools for DNM discovery in 353 unique trio combinations. We found a total of 27,168 DNMs (median: 70 single-nucleotide and 6 insertion-deletions per individual). Phasing revealed around 80% of DNMs were paternal in origin. Notably, using whole-genome methylation data of spermatogonial stem cells, these DNMs were significantly more likely to occur at highly methylated CpGs (OR: 2.03; p value = 6.62 × 10−11). We then examined the effects of consanguinity and ethnicity on DNMs, and found that consanguinity does not seem to correlate with DNM rate, and special attention has to be considered while measuring such a correlation. Additionally, we found that Middle-Eastern families with Arab ancestry had fewer DNMs than African families, although not significant (p value = 0.16). Finally, for families with diseased probands, we examined the difference in DNM counts and putative impact across affected and unaffected siblings, but did not find significant differences between disease groups, likely owing to the enrichment for recessive disorders in this part of the world, or the small sample size per clinical condition. This study serves as a reference for DNM discovery in multiplex families from the globally under-represented populations of the Middle-East.

Introduction: Thalassemia is an inherited disorder of hemoglobin synthesis. Regular blood transfusions and chelation therapy have noticeably prolonged survival in thalassemic patients. [1] Despite a significant increase in the lifespan of these patients, they suffer from multiple abnormalities probably due to iron overload, including endocrinal abnormalities such as hypogonadism, diabetes mellitus, hypothyroidism and hypoparathyroidism. [2] The pattern of levels of vitamin D levels among the patients with thalassemia major undergoing repeated blood transfusions remain unexplored. Very few studies have been undertaken among Indian population. Methodology: It is a prospective study and was conducted at St George hospital, Mumbai,on diagnosed patients of thalassemia major admitted to the pediatric wards. Duration of the study was 3 months and 36 patients were included. Inclusion Criteria1. All admitted patients of thalassemia major aged 12 years and below. Exclusion Criteria 1. Chronic hemolyticanemia apart from thalassemia major 2. Those that was very sick 3. Those suffering from malnutrition 4. Those who were on supplementation of calcium, phosphorus and vitamin d . Patients who were willing to participate and sign the inform consent were enrolled in the study. Serum 25 hydroxyvit D levels were done using CLIA. Results: The mean age of the studied thalassemia patients was 8.76 ± 3.7 years with no gender preponderance. Mean (SD) Vitamin D levels was 16.26 ±8.75 and was found to be statistically significant (p<0.001). Conclusion:It is evident from the present study that the levels of vitamin D are deficient among βthalassemia major patients on repeated blood transfusion. The deficiencies may be due to iron overload or due to nutritional deficiency. Frequent monitoring and supplementation in deficient states is recommended.

Introduction: The trends of bacterial enteropathogens causing gastroenteritis keep on changing with change in standard of living and environmental hygiene. The definition of diarrhea depends on what is normal for the individual. According to K. Armon, diarrhoea is defined as a change in bowel habit for the individual child resulting in substantially more frequent and/or looser stools In developing countries. [1] 50% -60% cases are of bacterial (Enteropathogenic Esherichia coli 25%, Campylobacter jejuni 10% -18%, Salmonella spp. and Shigella spp. 5% each), 35% of viral (15% -25% rotavirus) origin, and in many the cause is unidentified or mixed. [2][3][4][5] Aims and Objectives: To find out clinical features and study etiological factors of acute diarrhoea of under 5 years age group. Methodology: A prospective study was done in a tertiary care hospital during the period of January 2017 to June 2018-12-05.All paediatric cases in the age group of below 5 years were included. A total number of 149 patients were included in the study. Inclusion Criteria: All children presenting with acute diarrhoea in the age group of below 5 years of age admitted in paediatric ward. Exclusion Criteria: Neonates are excluded  Children who are critically ill.  Persistent diarrhoea more than 14 days  Malabsorbtion syndrome.  Diarrhoea due to metal poisoning (Cadmium, Arsenic, copper, mercury,etc.). After selection, a complete history was obtained from parents, a through general examination and systemic examination was done and findings were recorded in a specially designed proforma. Data analysis was done with use of SPSS and EXCEL Graphs and tables were prepared by MS-EXCEL. A p value <0.05 was considered significant. Results: In this study 6mo-1 year age group children were highly affected (47 %) with no sex predilection. Among the common organisms isolated 55% were Ecoli, 4.7% were K.pneumonia, 2%were enterococcus species, 1.4% were shigella flexneri species. As per the previous records Rotavirus caused majority of the JMSCR Vol||07||Issue||07||Page 555-563||July 2019 childhood diarrhoea. Due to lack of facilities in the institution isolation of 74 rotavirus and recognised classes of Escherichia coli (EPEC, ETEC, EHEC, EAEC and EIEC) could not be done. It was observed that out of all 50% of S. flexneri suffered from severe dehydration, 28.6% of all k. pneumonia were severily dehydrated followed by 23.2% of all ecoli. [p value <0.0001(very highly significant)]. In Class V SES 44.4% suffered from severe dehydration, class IV 21.4% suffered from severe dehydration. In grade IV malnutrition 57.1% suffered from some dehydration and 42.9% suffered from severe dehydration. Fever is the predominant symptom making 53.7% of all diarrheal patients. Association of fever presented in 100% of cases of of shigella flexneri, 66.7% of enterococcus species presented with fever, 65.9% of ecoli followed by 57.1% of K. pneumoniae followed by commensals. [p value <0.002(highly significant)]. Hyponatremia was common finding in all children. Mean sodiu...