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.
Early Childhood Caries (ECC) is a serious public health problem in developed as well as developing nations, with high prevalence among children around the world. This systematic review of the national literature was undertaken to document the prevalence of Early Childhood Caries. Studies evaluating the prevalence of Early Childhood Caries (ECC) in the Indian population were investigated. The method under evaluation was the use of a caries experience index to calculate the prevalence of ECC. An extensive literature search was done in the following databases: PubMed, IndMED and Cochrane upto June 2016. A modified version of the Newcastle-Ottawa Scale for cross-sectional studies was used for assessment of the quality of the studies. A systematic literature search yielded 503 publications from the various databases searched. Based on the inclusion and exclusion criteria, the final number of included studies were 54. Among the included studies, 19 studies were carried out in the state of Karnataka. Analysis of all the included studies revealed the overall prevalence of ECC in India to be 49.6%. Andhra Pradesh was found to have the highest prevalence of ECC at 63%, and the lowest prevalence was reported in Sikkim (41.92%). This review has reported a high prevalence of ECC in India. None of the states reported prevalence below 40%. The government should identify ECC as a national priority which requires significant attention.
About one-third of childhood epilepsy ultimately becomes drug resistant epilepsy. Only about one-third of drug resistant epilepsy is amenable for epilepsy surgery. Epilepsy surgery and vagal nerve stimulation is still beyond the reach of huge proportion of children with pharmacoresistant epilepsy. Ketogenic diet (KD) has been in use for almost a century now all over the world for drug resistant epilepsy, although in between there was a decline in its popularity with advent of newer antiepileptic drugs like valproate, phenytoin and carbamazepine. Again from 1990s there was resurgence of interest in KD for pharmacoresistant epilepsy and in the last two decades several randomized controlled trials and systemic reviews have proved its efficacy beyond any suspicion. Ketogenic diet is a high fat low carbohydrate and low protein diet, which has been found to reduce epileptogenesis in body most probably by production of ketone bodies. Modified Atkin’s Diet (MAD) first introduced in 2003 and Low Glycemic Index Treatment (LGIT) first introduced in 2005 are another two dietary therapies, which are less restrictive, more palatable with fewer adverse effects and comparable efficacy. MAD is also a high fat, low carbohydrate diet, in which high sugar foods are discouraged and protein and fluids are unrestricted. In LGIT, only carbohydrates with Glycemic Index <50 are allowed and carbohydrate intake is restricted to 40-60 g per day. Medium Chain Triglyceride KD (MCT KD) is another alternative, in which there are more food choices as compared to classic KD, with comparable efficacy.