Journal: Indian journal of pediatrics
To optimize a simple flowcytometric technique for Prenatal diagnosis (PND) for Leukocyte adhesions defect (LAD-I) on cordocentesis sample at 18 wk gestation.
The neuronal ceroid-lipofuscinosis (NCL) are a heterogeneous group of neurodegenerative diseases characterized by the lysosomal accumulation of ceroid and lipofuscin with mitochondrial ATP synthase subunit C in various tissues. Clinical features include progressive mental and motor deterioration, myoclonus, seizure, visual failure and premature death. Ten CLN genes have been identified, among them CLN6 genes for which 55 disease-causing mutations have already been reported. The authors describe here a large consanguineous Moroccan family with three affected patients due to the p.I154del mutation that has been exclusively reported in Portuguese patients. This is the first published report of a genetic study in a Moroccan family with NCL. A relatively inexpensive CLN6 mutation screening should be considered first in Morocco as an initial diagnosis step when the disease course is consistent with late infantile neuronal ceroid-lipofuscinosis.
Autism Diagnostic Observation Schedule (ADOS) is considered gold standard for the diagnosis of Autism Spectrum Disorders (ASD). The authors evaluated the cumulative diagnostic accuracy of ADOS-Module 1 (ADOS(M1)) using the original diagnostic algorithm with meta-analysis and meta-regression.
To measure the normal range of dimensions of liver in children of various age groups and to compare the liver measurement obtained by palpation-percussion, auscultation and ultrasonography.
In developing countries, meconium aspiration syndrome (MAS) is an important cause of morbidity and mortality among neonates. The concepts of pathophysiology and management of meconium stained amniotic fluid (MSAF) and meconium aspiration syndrome have undergone tremendous change in recent years. Routine intranatal and postnatal endotracheal suctioning of meconium in vigorous infants is no longer recommended. Recent studies have challenged its role even in non-vigorous infants. Supportive therapy like oxygen supplementation, mechanical ventilation and intravenous fluids are the cornerstone in the management of meconium aspiration syndrome. Availability of surfactant, inhaled nitric oxide, high frequency ventilators and extracorporeal membrane oxygenation has made it possible to salvage more infants with meconium aspiration syndrome. In this review the authors have discussed the current concepts in the pathophysiology and management of MAS. Drugs in trials and future therapeutic targets are also discussed briefly.
The objectives of this study were to study the clinical and biochemical profile of neonates with sepsis and to evaluate the diagnostic role of presepsin and its comparison with C-reactive protein (CRP) and Procalcitonin (PCT). This study was conducted from March 2015 through October 2016 in Neonatal intensive care unit (NICU) at S N Medical College, Agra. Neonates with ≥1 clinical features of sepsis and/or two risk factors were included. A total of 41 cases and 41 controls were taken. Blood sample was taken for all investigations. ROC curve analysis was performed. Out of 41 cases, 19 were blood culture positive, majority were males (68.3%), low birth weight (LBW: 70.7%) and preterms (53.6%). At chosen cut-off values, sensitivity of CRP, PCT and presepsin was 80.5%, 80.5%, 97.6% and specificity was 97.5%, 80.5%, 95.1% respectively. PCT and CRP were comparable as diagnostic markers of neonatal sepsis. Presepsin, in comparison with CRP and PCT has better sensitivity and negative predictive value (NPV).
In India, Hepatitis B vaccination is recommended at 6 wk except for hospital-deliveries. The authors examined protection afforded by the birth dose.
To develop iron rich snacks using locally available iron rich foods and analyze their iron content when cooked in iron pots. Further, the efficacy of the developed snacks, cooked in iron pots was examined on the hemoglobin status of pre-school children through a three month randomized trial.
To assess prevalence of goiter and associated factors among school going children in Udupi district.
To retrospectively assess growth of children with congenital adrenal hyperplasia (CAH) with special reference to puberty and to assess longitudinal growth and final height of subset of children with CAH.