An Indian family of multiple endocrine neoplasia type 1 (MEN1): molecular diagnosis, treatment and follow up.

BACKGROUND/OBJECTIVE: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal, dominant syndrome, characterized mainly by the combination of tumors involving the parathyroid, pancreatic and pituitary glands. Genetic sequencing leading to early treatment of family members has not yet been reported in Indian patients. METHODS: We performed molecular analysis of the MEN1 gene to identify mutations in an Indian family with MEN1 syndrome. The proband was identified with multiple peptic ulcers because of multifocal recurrent gastrinomas, as well as parathyroid and pituitary adenomas. All the 10 exons of the MEN1 gene were amplified using the polymerase chain reaction (PCR). The MEN1 gene was then screened by direct DNA sequencing. RESULTS: The proband is asymptomatic 3 years after total pancreatectomy and removal of parathyroid adenomas. DNA sequencing revealed the presence of a heterozygous Y227X mutation in exon 4 of the MEN1 gene in the proband. Four of the seven mutant-carrying family members are at present asymptomatic. Following screening, one asymptomatic child has been identified with and treated for insulinoma and parathyroid adenoma. CONCLUSION: Detection of the MEN1 gene mutation enables selection of family members for screening and long-term follow up.

Unusual dendritic keratitis.

Bilateral pseudo-dendritic keratitis in infancy can be due to tyrosinemia, a rare metabolic disorder. Ocular involvement may be the earliest presenting manifestation of this disease. Early diagnosis is essential because dietary modifications can result in complete reversal of the manifestations of this disorder. This disease must be suspected in all cases of non-responsive dendritic keratitis in the pediatric age group, especially if it is associated with cutaneous lesions such as patmoplantar keratosis. Serum tyrosine levels must be done in these cases.

Health status of Indian population--current scenario.

OBJECTIVE: We aimed at establishing reference intervals for the various biochemical and hematological analytes in healthy population. We also tried to find the percentage of people with coronary artery disease (CAD) and the associated risk factors in 39,940 subjects who had attended the health check up program at our hospital from the years 1996 to 2001. METHODS: The medical record folders of all the subjects were screened manually. Reference values were established using SPSS-8.0 package and the percentiles calculated and with it the corresponding 90% confidence interval (CI). RESULTS: The prevalence of hypertension, diabetes mellitus, and coronary artery disease was found to be 22.5%, 14.2%, and 3.9% respectively. In addition only 41.1% of the population was found to be normolipemic. Most of the analytes showed reference intervals which were in agreement with our reporting values. There was no influence of diet on the reference intervals. Also, there were some analytes like lipids where it was felt that changing the reference values would assign the subjects at greater risk for CAD. CONCLUSION: Implementation of reference intervals in case of lipids poses a dilemma. Lifestyle and diet modifications would have to be implemented to reduce the burden of CAD in this population.