Methylation Status of IGF-Axis Genes in the Placenta of South Indian Neonates with Appropriate and Small for Gestational Age.

Objective: Altered methylation patterns of insulin-like growth factor (IGF)-axis genes in small for gestational age (SGA) have been reported in different populations. In the present study, we analyzed the methylation status of IGF-axis genes in the placenta of appropriate for gestational age (AGA) and SGA neonates of South Indian women.

Methods: Placental samples were collected from AGA ( = 40) and SAG ( = 40) neonates.

The Role of Insulin-like Growth Factor-Axis and Mitotic Index in South Indian Neonates with Small for Gestational Age.

Objective: IGF-axis and mitotic capacity of cells play a vital role in fetal growth. We compared IGF1, IGF2, and IGFBP3 protein levels, mitotic indices, and mRNA expression in appropriate for gestational age (AGA) and small for gestational age (SGA) neonates of Indian women.

Methods: Cord blood ( = 80) and placental samples ( = 40) were collected from AGA and SGA neonates.

Unique Severe HyperEkplexia-Like Apneic Events (SHELAE) Improved by High-Dose Piracetam.

Breath-holding spells are common non-epileptic events with onset between 6 months and 18 months of age that are usually triggered by minor painful events or strong emotions. Symptomatic treatments for breath-holding spells include iron supplementation, glycopyrrolate and piracetam. Hyperekplexia is a rare non-epileptic disorder characterized by generalized hypertonia and exaggerated startle.

Favorable Outcomes With Early Interleukin 6 Receptor Blockade in Severe Acute Necrotizing Encephalopathy of Childhood.

Background: Outcome in severe acute necrotizing encephalopathy of childhood is poor, with high mortality (30%) and moderate to severe disability in survivors despite the use of intravenous corticosteroids or immunoglobulins. Increased blood interleukin 6 level correlates with poor outcome.

Methods: We report the early use of tocilizumab, a monoclonal antibody against the interleukin 6 receptor, in three patients (aged five, eight, and 10 years) with severe acute necrotizing encephalopathy.

Identification of intronic-splice site mutations in GATA4 gene in Indian patients with congenital heart disease.

Congenital Heart Disease (CHD) is the most common birth defect among congenital anomalies that arise before birth. GATA4 transcription factor plays an important role in foetal heart development. Mutational analysis of GATA4 gene in CHD patients revealed five known heterozygous mutations (p.

A novel mutation in the transglutaminase-1 gene in an autosomal recessive congenital ichthyosis patient.

Structure-function implication on a novel homozygous Trp250/Gly mutation of transglutaminase-1 (TGM1) observed in a patient of autosomal recessive congenital ichthyosis is invoked from a bioinformatics analysis. Structural consequences of this mutation are hypothesized in comparison to homologous enzyme human factor XIIIA accepted as valid in similar structural analysis and are projected as guidelines for future studies at an experimental level on TGM1 thus mutated.

Fine needle aspiration cytology in pediatric age group with special reference to pediatric tumors: a retrospective study evaluating its diagnostic role and efficacy.

Background: Fine needle aspiration cytology (FNAC) is a well-established diagnostic technique in adult mass lesions but a comparatively new technique to pediatric lesions.

Aim: The current study aims to evaluate the role of FNAC in pediatric age with special reference to pediatric tumors.

Subjects And Methods: A retrospective study of FNAC in children ≤ 18 years of age presenting with mass lesions was studied for 5 years.