Nuclear Mitochondrial Disorder Due to a Variant in NAXE in Two Unrelated Indian Children.

Progressive encephalopathy with brain edema and/or leukoencephalopathy type 1 (PEBEL1) is a nuclear mitochondrial disorder involving the NAD(P)HX repair mechanism due to a NAXE variation. PEBEL1 is characterized by rapid neurologic deterioration culminating in death following high-grade fever during infancy. Currently, 23 patients from 14 families are described in the literature, with only three survivors. The authors report two living children from unrelated families with PEBEL1. Both children presented in infancy with ptosis, squint, and ataxia with no skin manifestations. Whole-exome sequencing revealed previously reported c.804_807delInsA (p.Lys270del) variation in exon 6 of NAXE. This is the first Indian report of PEBEL1.

Understanding Childhood Constipation through the Prism of the Caretaker.

Aims: Childhood constipation is presenting with increasing frequency at pediatric surgical clinics. The caregiver's role in prevention and management is pivotal. This study aimed at determining mothers' knowledge, attitudes, and practices with regard to childhood constipation and the association of these with demographic variables. Materials and Methods: This was a survey-based descriptive study conducted at a tertiary care hospital in South India. Randomly selected mothers of children aged 1-10 years consulting for any problem other than constipation were included in the study. Data collection was done by means of a pretested and prevalidated questionnaire. Results: There were 169 mothers with a median age of 30 years. Over half were homemakers and of a rural background. Urban mothers scored better than their rural counterparts in the attitude section (P = 0.034). Mothers with greater knowledge had better attitude (P = 0.001) and practice (P = 0.020) scores. Those with higher attitude scores also fared better in the practice section (P = 0.04). Conclusions: Knowledge, attitude and practice concerning childhood constipation are connected to each other. South Indian mothers are sufficiently aware of the nuances surrounding childhood constipation, but focused large-scale outreach programs and health education are necessary to bridge the gaps.

Role of Nuclear Factor-Kappa B Activation and Inflammatory Biomarkers in Critically Ill Children.

Mortality prediction is important for cautious monitoring and optimal management of critically ill children. The serum cytokine levels are elevated early in critical illness before the physiological parameters are deranged. This cross-sectional descriptive study included the critically ill children admitted in intensive care unit. Serial serum levels of IL-6, NF-κB and PELOD 2 scoring were measured and compared in 45 children (40 survivors, 5 non-survivors). The median IL-6 levels at 24 h and 72 h were significantly high in non-survivors when compared to survivors [median (IQR) = 1122 (1305) pg/ml vs. 564.39 (153) pg/ml and 1263 (626) pg/ml vs. 82 (191) pg/ml respectively; p <0.0001)]. There was an increasing trend of IL-6 in non-survivors when compared to the survivors. The NF-κB values were comparable. The IL-6 levels correlated well with the illness severity. IL-6 had superior prognostic value compared with NF-κB in predicting mortality.

Acute necrotic arachnidism with necrotising fasciitis and recurrent pneumothorax.

A male infant presented with swelling of the left leg and fever. Over the next 2 days, the area developed fasciitis extending to the left thigh, abdomen, and lower chest. Meanwhile, the parents found a giant brown spider within the infant's cot belonging to the genus Loxosceles, otherwise called the brown recluse spider. The dermo-myonecrosis progressed to deeper tissues involving the lung parenchyma requiring invasive ventilation. CT of the thorax showed multiple pneumatoceles, and lung biopsy showed alveolar necrosis. The infant was treated with intravenous antibiotics and corticosteroids. We drained the pneumothoraces by thoracostomy and insertion of intercostal drainage tubes. The infant required respiratory support initially by conventional ventilation, which was escalated to high-frequency oscillatory ventilation. He had refractory hypoxaemia and died. This is the first fatal case of acute spider envenomation described in India. Spider envenomation must be considered in patients with sudden onset, rapidly progressive necrotising fasciitis unresponsive to antibiotic therapy.

Smokeless Tobacco Exposure and Fetal Iron Status: An Analytical Study.

Objectives: To compare the cord serum ferritin and fetal iron status in newborns with and without maternal occupational smokeless tobacco exposure and determine the influencing factors. Methods: This cross-sectional study included mother-infant dyads with occupational tobacco exposure (exposed) and an unexposed group. Umbilical cord serum ferritin was compared in both groups. Fetal nicotine absorption was established by cord cotinine. Results: A total of 140 newborns each were analyzed in each group. There was no significant mean difference (MD) (P = 0.900) between the cord serum ferritin in the tobacco exposed and unexposed group. Fetal nicotine absorption was seen in 43.6% of the exposed group. Cord serum ferritin was 14.1 µg/L (95% confidence interval [(95% CI:-43.1, 14.9); P=0.338] lower in this group compared with the group without fetal nicotine absorption. A higher adjusted MD for ferritin was present for maternal hypertension (12.5 [95% CI: -75.5, 100.5]; P = 0.777) and gestational diabetes mellitus (21.4 [95% CI: -54.0, 96.9]; P = 0.571) in the group with fetal nicotine absorption. Fetal nicotine absorption exaggerated fetal iron depletion in maternal anemia [aOR 4.8 (95%CI: 1.2, 19.0); P=0.025]. Conclusion: Cord serum ferritin and fetal iron status were comparable in tobacco exposed and unexposed groups. In those with fetal nicotine absorption, cord ferritin levels reflect the fetal inflammatory state.

Focal Dermal Hypoplasia with a De novo Mutation p.E300* of PORCN Gene in a Male Infant.

Focal dermal hypoplasia is a rare disorder inherited in an X-linked dominant pattern and is usually antenatally lethal in males. We report a surviving male with postzygotic de novo mutation p.E300* in exon 10 of PORCN gene with mosaicism, earlier reported in a female of Thai origin. This is the first report of this mutation from the Indian subcontinent.