Neonatal Diabetes Mellitus: Novel Mutations.

OBJECTIVE: To describe the spectrum of neonatal diabetes mellitus (NDM), document new mutations, and review published Indian literature on the etiology of NDM. METHODS: Retrospective analysis of the clinical and genetic profile of 12 NDM patients. RESULTS: Eight patients presented with NDM before the age of 6 mo. Three other patients, including 2 siblings presented in later part of infancy. An additional patient was diagnosed at age 5 y with the same etiology as her infant sibling. Four patients had transient diabetes [TNDM:1 each with a mutation in KCNJ11 and INS gene, 2 with ABCC8 mutation], 7 had permanent diabetes [PNDM: 2 siblings with complete glucokinase deficiency, 2 siblings with thiamine responsive megaloblastic anemia (TRMA), 1 with Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) syndrome and 2 with Wolcott Rallison syndrome, (WRS)]. Four patients had 5 novel mutations. Genetic etiology could not be established in 1 patient with features of insulin resistance. Poorly controlled blood glucose in the TRMA patient led to hyperglycemia-induced hemichorea-hemiballismus, a rare manifestation in children. CONCLUSIONS: The authors describe 5 novel mutations, in the EIF2AK3, ABCC8, and GCK genes, a homozygous mutation at the ABCC8 locus presenting as TNDM, an obscure phenotype of the GCK gene mutation, and hyperglycemia-induced hemichorea-hemiballismus in a patient with TRMA. In India, PNDM is most commonly due to WRS similar to Middle Eastern countries with high consanguinity rates.

Cushing's Disease in Children: A Review.

Cushing's disease is rare in the paediatric age group. The disease manifestations are similar to that seen in adults. Most of the management protocols have, therefore, been adopted from experience in adults and the therapeutic strategies employed in the latter group. Management of paediatric Cushing's disease poses significant challenges with regard to achieving an optimal growth, a proper body composition, an adequate bone health and reproductive capability as well as a good quality of life. This article reviews the special clinical, biochemical, radiological, surgical, and adjunctive therapeutic considerations in paediatric Cushing's disease.

A Study of Immunogenicity of Intensified Hepatitis B Vaccination in Children Being Treated for Acute Lymphoblastic Leukemia.

Children with acute lymphocytic leukemia (ALL) are at an increased risk of acquiring hepatitis B infection due to repeated exposure to blood products. They have poor response to vaccination due to immunosuppressive effects of malignant disease and chemotherapy; hence necessitating vaccination with increased doses or increased amount of vaccine or both. The authors studied 44 patients (32 boys and 12 girls) given double dose hepatitis B vaccination at 0, 1 and 2 mo during induction and consolidation phase of therapy. Of the thirty patients who completed the study, only 13 (43.34%) developed protective antibody levels (titres >10 mIU/ml) measured 4 wk after the third dose. The authors conclude that with three double dose schedule of Hepatitis B vaccination, response rate is poor. Therefore, for protection from Hepatitis B infection during initial phase of therapy, there is a need to provide passive immunization.

Study of eating attitudes and behaviours in junior college students in Mumbai, India.

BACKGROUND: Eating disorders have been described as possible 'culture-bound syndromes', with roots in Western cultural values and conflicts. They may, in fact, be more prevalent within various non-Western cultural groups than previously recognised, as Western values become more widely accepted. Cross-cultural experiences suggest that cultural change itself may be associated with increased vulnerability to eating disorders, especially when Western values about physical aesthetics are involved. OBJECTIVE: to assess the eating attitudes and behaviours among adolescents in the urban ethnic city, Mumbai, a survey was conducted amongst 451 college students. METHOD: the study, based in four junior colleges, comprised 451 subjects who completed a semi-structured questionnaire, a 26-item Eating Attitudes Test (EAT-26) and the Personal Assessment Inventory (IPAT). RESULTS: the results revealed faulty eating habits in 13.3% of the subjects. A statistically significant proportion perceived them-selves to have problems with eating, substance use, dieting and exercise practices, resorting to extreme measures to achieve weight loss. A high rate of faulty eating habits was observed in males. Higher scores on depression and suicidal ideation were reported in the population with faulty eating habits. CONCLUSION: a significant percentage of college-going populations in urban settings probably have faulty eating habits.