Indian Journal of Pediatrics最新文献

Mitochondrial disorders are a diverse group of diseases caused by mutations in genes encoded by either nuclear or mitochondrial DNA. In a group of patients with nuclear mitochondriopathies, the authors analysed the clinico-radiological and genotypic spectrum. The study included 25 patients with a genetic diagnosis of nuclear mitochondrial cytopathy who were seen over a 5 y period. There were 25 patients in the study cohort (Mean age of presentation- 14 mo). Biallelic mutations involving nuclear mitochondrial genes were identified in all 25 of them. In 13 and 9 patients, respectively, respiratory chain defects (complex I and complex IV) and mitochondrial DNA depletion syndromes were identified. Twelve novel variants were identified. Interestingly, NDUFV1 with a south Indian founder variant c.1156 C > T (p.Arg386Cys) was the commonest variant. Accurate phenotyping combined with next generation sequencing aids in the precise diagnosis of mitochondrial nuclear gene defects and provides the opportunity for appropriate counseling.

The utility of surveillance stool culture (SSC) to guide antibiotics for febrile neutropenia (FN) is unresolved in non-transplant settings. The prospective study explored the prevalence of multidrug-resistant organisms (MDRO) in SSCs, its correlation with mortality, and the concordance of SSCs with cultures obtained during subsequent episodes of FN amongst children with acute leukemia. SSCs were obtained at presentation and 2 mo into chemotherapy. Seventy-nine patients (mean age: 5.9±3.2 y) with acute lymphoblastic leukemia (ALL) (80%), acute myeloid leukemia (AML) (16%), or biphenotypic leukemia (4%) were enrolled. MDROs were isolated from 14 (17.5%) patients in the first SSCs, including E.coli (80%), K. pneumoniae (10%), and E. faecium (10%). Three (3.8%) patients developed MDRO sepsis; none concorded with the SSCs. Eleven (14%) patients died; 4/14 (28.5%) with MDRO-colonization vis-à-vis 7/66 (10.6%) without MDRO-colonization (OR: 3.37, 95% CI: 0.8-13.6; p = 0.095). MDRO-colonization failed to predict MDRO-sepsis, bloodstream infection, or mortality. SSC failed to guide the choice of antibiotics for FN in children with acute leukemia.

Objectives: To investigate the mechanism of glycemic control in children with type 1 diabetes (T1D) following high-strength probiotics supplementation by assessing immune-regulatory markers.

Methods: In this single-centre randomised double-blinded placebo-controlled study, children with new-onset T1D on regular insulin therapy were randomised into probiotic or placebo groups with 30 children each. The probiotics group received oral powder of Vivomixx^®, and the placebo group received corn starch for six months. The primary outcome parameters included induced T regulatory cells (i-Tregs) percentage, insulin autoantibodies (IAA), insulinoma associated 2 autoantibodies (IA2), glutamic acid decarboxylase autoantibodies (GAD 65) and plasma interleukin-10 (IL-10) levels. The secondary outcome variables were changes in plasma C-peptide levels and glycemic control parameters.

Results: Twenty-three children in the placebo group and 27 in the probiotic group completed the study. There was a significant increase in the percentage of iTregs (3.40 in the probiotic vs. 2.46 in the placebo group; p = 0.034). Median glycated hemoglobin (HbA1c) levels significantly decreased from 68 mmol/mol (8.35%) in the placebo group to 60 mmol/mol (7.55%) in the probiotic group (p = 0.017). Median C-peptide levels were significantly higher in probiotics (0.72 ng/ml) vs. placebo group (0.11 ng/ml) (p = 0.036). The plasma IL-10 levels significantly increased in the probiotic group after six months of treatment (p = 0.002).

Conclusions: The high-strength probiotics improved the immunoregulatory milieu, thereby preserving the beta-cell function and better glycemic control.