Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.

Aims/hypothesis: Diabetes is one of the cardinal features of thiamine-responsive megaloblastic anaemia (TRMA) syndrome. Current knowledge of this rare monogenic diabetes subtype is limited. We investigated the genotype, phenotype and response to thiamine (vitamin B) in a cohort of individuals with TRMA-related diabetes.

Neonatal Diabetes: A Case Series.

Background: Neonatal diabetes mellitusis a rare disorder with an incidence of 1 in 2,60,000 live births.

Methods: Retrospective analysis of clinical and genetic profile of children admitted with neonatal diabetes mellitus in a tertiary-care hospital in Chennai, India over 11 years.

Results: Ten children were diagnosed with neonatal diabetes of whom 9 had permanent neonatal diabetes mellitus.

Correlation of Childhood Obesity and Related Insulin Resistance with Leptin and Retinol Binding Protein 4.

Objectives: To study the correlation of obesity with various metabolic parameters and correlation between insulin resistance and leptin and retinol binding protein 4 (RBP4) levels.

Methods: This is a cross sectional study in a tertiary care children's hospital wherein 98 obese children were included and their metabolic parameters analysed with regards to insulin resistance and RBP4 levels.

Results: Leptin levels were abnormal for all children and high RBP4 levels were observed in 69.

Hemophagocytic lymphohistiocytosis masking the diagnosis of lymphoma in an adolescent male.

Hemophagocytic lymphohistiocytosis (HLH) association with an underlying lymphoma is an uncommon entity in paediatrics. It may precede lymphoma diagnosis by several years or may occur at the time of remission or relapse of lymphoma. Simultaneous occurrence of HLH & lymphoma is rare.

Ganciclovir therapy in two immunocompetent infants with severe acquired CMV pneumonitis.

Cytomegalovirus (CMV) infection in immunocompetent hosts is usually benign and does not require antiviral therapy. Rarely, however, it can be severe and life-threatening. Two immunocompetent infants with severe acquired CMV infection are reported who responded dramatically to ganciclovir with no observed side-effects.

Profile of typhoid fever in children from a tertiary care hospital in Chennai-South India.

Aim: To study the clinical profile and outcome of hospitalized children with typhoid fever.

Materials And Methods: A retrospective study was conducted in a private tertiary care children's hospital over a 3 year period.

Results: A total of 316 children (7 in every 1000 admissions) were diagnosed to have typhoid fever during this period.

Kawasaki disease mimicking retropharyngeal abscess.

Kawasaki disease is an acute, self-limiting febrile mucocutaneous vasculitis of infants and young children. Retropharyngeal lymphadenopathy is a rare presentation of Kawasaki disease. We present a case of Kawasaki disease mimicking a retropharyngeal abscess, with upper airway obstruction resulting in delayed diagnosis.

Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis.

Heterozygous coding mutations in the INS gene that encodes preproinsulin were recently shown to be an important cause of permanent neonatal diabetes. These dominantly acting mutations prevent normal folding of proinsulin, which leads to beta-cell death through endoplasmic reticulum stress and apoptosis. We now report 10 different recessive INS mutations in 15 probands with neonatal diabetes.

Clinical profile and outcome of diabetic ketoacidosis in children.

Unlabelled: BACKGROUND. There is little information on the clinical profile and outcome of children with diabetic ketoacidosis in India. We analysed the data of children managed by us at a tertiary care hospital.

Thiamine responsive megaloblastic anemia syndrome.

Thiamine responsive megaloblastic anemia syndrome (TRMA) is a clinical triad characterized by thiamine-responsive anemia, diabetes mellitus and sensorineural deafness. We report a 4-year-old girl with TRMA whose anemia improved following administration of thiamine and this case report sensitizes the early diagnosis and treatment with thiamine in children presenting with anemia, diabetes and deafness.

Infantile-onset diabetes mellitus: a 1-year follow-up study.

This study evaluates the clinical profiles and outcomes of children with infantile-onset diabetes mellitus (IODM) (onset at <1 year). Twelve infants with IODM presenting to our hospital from January 2003 to December 2007 are analyzed. All undergo thorough history, clinical examination, and investigations and are managed as per hospital-approved protocol and periodically followed up.