BackgroundFew single center studies from resource-poor settings have reported about the epidemiology, clinical feature and outcome of multisystem inflammatory syndrome in children (MIS-C). However, larger data from multi-center studies on the same is lacking including from Indian setting.MethodsThis retrospective collaborative study constituted of data collected on MIS-C from five tertiary care teaching hospitals from Eastern India. Children ≤ 15 years of age with MIS-C as per the WHO criteria were included. Primary outcome was mortality.ResultsA total of 134 MIS-C cases were included (median age, 84 months; males constituted 66.7%). Fever was a universal finding. Rash was present in 40%, and conjunctivitis in 71% cases. Gastro-intestinal and respiratory symptoms were observed in 50.7% and 39.6% cases, respectively. Co-morbidity was present in 23.9% cases. Shock at admission was noted in 35%, and 27.38% required mechanical ventilation. Fifteen (11.2%) children died. The coronary abnormalities got normalized during follow-up in all except in one child. Initial choice of immunomodulation had no effect on the outcomes. Presence of underlying co-morbidity, lymphopenia, thrombocytosis, hyponatremia, increased LDH (>300 U/L), and hypoalbuminemia were the factors significantly associated an increased mortality.ConclusionsMIS-C has myriad of manifestations. Underlying co-morbidity, lymphopenia, thrombocytosis, hyponatremia, increased LDH (>300 U/L), and hypoalbuminemia were associated with an increased mortality. No difference in outcome was noted with either steroid or IVIg or both. Coronary artery abnormalities resolved in nearly all cases.

Background: Inherited tubulopathies are a heterogeneous group of genetic disorders making whole exome sequencing (WES) the preferred diagnostic methodology. Methods: This was a multi-centric descriptive study wherein children (<18 years) with clinically suspected tubular disorders were recruited for molecular testing through WES. Multiplex ligation-dependent probe amplification (MLPA) and Sanger sequencing were done when required. Variants were classified as per American College of Medical Genetics 2015 guidelines and pathogenic (P) / likely pathogenic (LP) variants were considered causative. Results: There were 77 index cases (Male =73%; female). Median age of diagnosis Powered by Editorial Manager® and ProduXion Manager® from Aries Systems Corporation was 48 months (IQR 18.5 to 108 months). At recruitment, number of children in each clinical group were as follows: Distal Renal Tubular Acidosis (dRTA) =25, Bartter syndrome=18, Isolated Hypophosphatemic rickets (HP) =6, Proximal tubular dysfunction (pTD) = 12, Nephrogenic Diabetes Insipidus (NDI) =6, Kidney stone / Nephrocalcinosis (NC) =6 and Others =4. We detected 55 (24 novel) P/LP variants, providing genetic diagnoses in 54 children (70%). The diagnostic yield of WES was highest for NDI (100%), followed by HP (83%; all X-linked HP), Bartter syndrome (78%), pTD (75%), dRTA (64%), and NC (33%). Molecular testing had a definite impact on clinical management in 24 (31%) children. This included revising clinical diagnosis among 14 children (26% of those with a confirmed genetic diagnosis and 18% of the overall cohort), detection of previously unrecognized co-morbidities among 8 children (sensorineural deafness: n=5, hemolytic anemia: n=2, and dental changes: n=1) and facilitating specific medical treatment among 7 children (Primary Hyperoxaluria: n=1, Cystinosis: n=4, Tyrosinemia: n=2). Conclusion: WES is a powerful tool in the diagnosis and management of children with inherited tubulopathies in the Indian population. Response to Reviewers:Reviewers' comments:Reviewer #1:Major concernsComment 1:The a priori inclusion criteria of this study remain unclear. Since the authors investigate multiple disease entities, they list a "phenotype description" for each disease entity in TI. However, it remains unclear if and to which extent this phenotype description needed to be fulfilled for the respective patient to be included in this supposedly prospective study in general and in the respective cohort in particular. Furthermore, the category "Others" seems to entirely consist of patients that did not fulfill any clear inclusion criteria beyond a presumptive diagnosis of tubulopathy by their treating physician. To avoid the impression of selective in-and exclusion of patients and post-hoc grouping of patient cohorts, the authors should clearly explain their inclusion process and, most importantly, add the actual phenotype of the respective patient in TII.Response: We would like to thank the reviewer for highlighting this concern. At the time of collecting blood sample for g...

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Background: Sickle cell disease (SCD) is the most common single gene disorder resulting in hemolytic anemia. Aim of the study was to describe the clinico-haematological profile of children with sickle cell anaemia admitted to Paediatric ward/PICU with any acute clinical event and to find out the association between high HbF level, frequency of crises episodes and requirement of blood transfusion in sickle cell anemia. Methods: Hospital based descriptive study. Retrospective data analysis was done from medical records of patients between 0-15 years age group admitted to hospital from March 2014 to August 2017. Results: Total 68 clinical events were recorded in 60 patients during the study period. More than half of the children were in 0-5 years age group. Mean age of diagnosis was 2.79 years. Severe anemia requiring blood transfusion was the most common cause of hospitalization followed by painful crises. Mean Hb level in the children was 6.65(±2.38). More than one third of children had associated nutritional anemia. Children with high HbF level were found to have less number of painful crises episodes. Conclusions: Severe anemia followed by painful crises were the commonest presentations requiring admission in our hospital. Chronic anemia with microcytosis and high HbF level is the hematological profile of the present study group. Children with high HbF level suffered from less number of painful crises episodes when compared to children with low HbF. But the requirement of blood transfusion was similar in both groups.

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