Indian Journal of Pediatrics最新文献

Objectives: To present authors' experience with congenital arginine vasopressin resistance (AVP-R) in children up to 12-y-old at a tertiary care center in Northern India.

Methods: An ambispective analysis was conducted, focusing on clinical, biochemical, genetic evaluations, treatments, renal and neurological outcomes.

Results: Data from 11 patients (two females) were included, with an average delay of 18 mo between symptom onset and diagnosis. The majority of children presented with failure to thrive (90.9%), polyuria (90.9%), and hyperosmolality (63.6%) at the time of diagnosis. Nearly one-fourth of the cohort experienced acute kidney injury. Random copeptin levels (340.7 ± 59.56 pmol/L) were significantly higher than the diagnostic cutoff suggested in the literature, and molecular diagnosis confirmed AVPR2 mutations in 90% of the cases. The subjects were followed for a median of 2.1 y (range: 1-4.7 y). During this period, there was a median increase of + 0.79 in BMI/weight-for-height SDS and a 30.55% reduction in urine output. However, 63.63% of the children continued to experience failure to thrive. None of the subjects developed renal structural abnormalities or chronic kidney disease (CKD) ≥ stage 2 by the final follow-up. Neurological evaluation revealed attention deficit hyperactivity disorder and gross developmental delay in two children and one child respectively.

Conclusions: This study provides the first comprehensive analysis of congenital AVP-R in a low-middle-income setting.

Objectives: To compare the insulin-like growth factor binding protein-1 (IGFBP-1) gene methylation and expression in the cord blood among intrauterine growth restricted (IUGR) and appropriate for gestational age (AGA) neonates and find their association with anthropometry at birth.

Methods: Cord blood samples from IUGR and AGA neonates were collected. Anthropometric measurements i.e., Weight, length and head circumference of the infants were measured. RT-PCR was performed to examine IGFBP-1 gene expression and DNA methylation analysis by bisulfite sequencing PCR. The results were analyzed by using Mann-Whitney U test and Pearson correlation.

Results: IUGR neonates had significantly lower anthropometry (weight, length and head circumference) measurements at birth compared to AGA neonates. Gene expression analysis showed significantly higher IGFBP-1 gene expressions among IUGR compared to AGA neonates and gene expression level correlated with anthropometric measurements. There was no difference in IGFBP-1 gene methylation rate between the two groups of neonates and no correlation was observed with anthropometry.

Conclusions: IGFBP-1 gene expression in cord blood was significantly higher among IUGR neonates and was associated with reduced birth weight, birth length and head circumference while the gene methylation was similar. This suggests involvement of multiple factors in occurrence of fetal growth restriction.

Objectives: To evaluate the therapeutic effect of the modified Martin procedure for patients with megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS).

Methods: The authors retrospectively analyzed the medical records of patients diagnosed with MMIHS who underwent surgical treatment at their institute between August 2019 and June 2023. The modified Martin procedure and Bishop-Koop procedure were performed for the patients. Data, including demographics, operative time, intraoperative blood loss, complications and clinical outcomes, were collected.

Results: A total of 11 children with MMIHS were enrolled in this study. The mean age of the patients was 4.08 ± 1.69 y, and seven cases (63.64%) were male. The average operation time was 312.09 ± 108.88 min, with an average intraoperative blood loss of 25.82 ± 6.42 ml. The first postoperative defecation time was 3.60 ± 0.91 d. Patients took an average of 4.10 ± 0.40 d to resume eating after surgery, and their average length of hospital stay was 24.64 ± 4.52 d. Postoperative follow-up results showed that of the nine surviving children, two patients required intermittent intravenous nutrition support, and seven patients had successfully transitioned from parenteral nutrition support. In this study, two patients eventually died of multiple organ failure.

Conclusions: The modified Martin procedure is a promising method for treating MMIHS. The patients exhibited positive nutritional status and satisfactory outcomes during the follow-up period.