North and South Indian populations share a common ancestral origin of Friedreich's ataxia but vary in age of GAA repeat expansion.

Friedreich's ataxia (FRDA) is caused by expansion of GAA repeats in the frataxin (FXN) gene on chromosome 9q13-q21.1. We analysed the origin of FRDA in 21 North Indian (NI) and eight South Indian (SI) families using five single nucleotide polymorphisms (SNPs) and a microsatellite marker spanning the GAA repeats. The NI and SI families were derived from Indo-European and Dravidian linguistic backgrounds respectively. The frequency of large normal (LNs) alleles of the GAA repeat correlate with the overall lower prevalence of FRDA in India compared to the European population. All of the expanded alleles in the Indian population share a common core haplotype suggesting a founder effect. The expanded alleles in the NI population demonstrate more similarity to those of Europeans in terms of age of GAA repeat expansion (15975 +/- 2850 years) and association of LNs with expanded alleles. FRDA seems to have been introduced recently in the South Indian population since the average estimated age of the mutation in SI is 5425 +/- 1750 years and unlike NI some of the haplotypes of LNs are not associated with the expanded alleles.

Brain tumours in children.

A 10 years old, female patient presented with symptoms of abnormal movement of the body for 5 years, deviation of mouth to left side for 12 days and difficulty in walking for 12 days. We report a very rare case of Brain Stem gliomas. Clinical and imaging findings were suggestive of brain stem gliomas.

Synthesis and fungicidal activity of some 5-aryl/aryloxymethyl-2-[5-aryl-3-methyl-1,2,4-triazol-2-yl]-1,3,4-thiadiazoles and 5-aryl/aryloxymethyl-2[5-aryl-2-phenylimino-1,3,4- thiadiazolin-3-yl]-1,3,4-thiadiazoles.

5-Aryl/aryloxymethyl-2-[5-aryl-2-methyl-1,2,4-triazol-2-yl]- 1,3,4-thiadiaxoles 4 and 5-Aryl/aryloxymethyl-2-[5-aryl-2-phenylimino-1,3,4- thiadiazolin-3-yl]-1,3,4-thiadiazoles 5 have been obtained from the cyclocondensation of 5-aryl/aryloxymethyl-2-arylidene hydrazino-1,3,4-thiadiazoles 3 with methyl cyanide and phenyl isothiocyanate respectively. Compounds 4 & 5 have been screened for their fungicidal activity against R. solani, F. oxysporum and P. oryzae. Based on screening data some structure-activity relationship is given.

Causes of Hypersomnia – Narcolepsy.

The causes of hypersomnia or excessive daytime sleepiness (EDS) besides volitional sleep deprivation and obstructive sleep apnea are principally due to primary central nervous system abnormalities. Most common amongst these is Narcolepsy, a primary disorder of the neural control of wakefulness and sleep. The recent discovery of hypocretin/orexin deficiency as the main cause of narcolepsy will lead to important therapeutic advances for patients with narcolepsy and further to understanding of the control of sleep and wakefulness in general. Importantly, the excessive daytime sleepiness is not due to psychiatric conditions, but rather is always due to sleep deprivation or an underlying diagnosable and treatable sleep disorder.

Aortic aneurysm presenting as Budd Chiari syndrome.

Budd Chiari Syndrome is the eponymic designation of symptomatic post sinusoidal venous obstruction, whether or not this is associated with hepatic vein occlusion or vena caval obstruction. Dutta and associates (1) classified the syndrome into two distinct types. Type I involves obstruction to the hepatic veins while Type II pertains to an obstruction in the inferior vena cava above the entry of hepatic veins. We report a case of thoraco-abdominal aortic aneurysm presenting as Type II Budd Chiari Syndrome.

Brain tumours in children.

A 10 years old, female patient presented with symptoms of abnormal movement of the body for 5 years, deviation of mouth to left side for 12 days and difficulty in walking for 12 days. We report a very rare case of Brain Stem gliomas. Clinical and imaging findings were suggestive of brain stem gliomas.