NRAS Mutations in de novo acute leukemia: Prevalence and clinical significance.

The activating mutations of the Ras gene or other abnormalities in Ras signaling pathway lead to uncontrolled growth factor-independent proliferation of hematopoietic progenitors. Oncogenic mutations in NRAS gene have been observed with variable prevalence in hematopoietic malignancies. In the present study, NRAS mutations were detected using bidirectional sequencing in 264 acute leukemia cases — 129 acute lymphocytic leukemia (ALL) and 135 acute myeloid leukemia (AML) and 245 age- and gender-matched controls. Missense mutation was observed only in the 12th codon of NRAS gene in 4.7% of AML and 3.16% of ALL cases. The presence of NRAS mutation did not significantly influence blast % and lactate dehydrogenase (LDH) levels in AML patients. When the data were analyzed with respect to clinical variables, the total leukocyte count was elevated for mutation positive group, compared to negative group. In AML patients with NRAS mutations, 60% failed to achieve complete remission (CR), as compared to 34.8% in mutation negative group. These results indicated that NRAS mutations might confer poor drug response. In AML, disease free survival (DFS) in NRAS mutation positive group was lesser, compared to mutation negative group (9.5 months vs. 11.68 months). In ALL patients, DFS of NRAS mutation positive group was lesser than mutation negative group (9.2 months vs. 27.5 months). The CR rate was also lower for mutation-positive patients group, compared to mutation-negative group. In conclusion, these results suggested that presence of NRAS mutation at 12th codon was associated with poor response and poorer DFS in both ALL and AML.

Allelic variants of DYX1C1 are not associated with dyslexia in India.

Dyslexia is a hereditary neurological disorder that manifests as an unexpected difficulty in learning to read despite adequate intelligence, education, and normal senses. The prevalence of dyslexia ranges from 3 to 15% of the school aged children. Many genetic studies indicated that loci on 6p21.3, 15q15-21, and 18p11.2 have been identified as promising candidate gene regions for dyslexia. Recently, it has been suggested that allelic variants of gene, DYX1C1 influence dyslexia. In the present study, exon 2 and 10 of DYX1C1 has been analyzed to verify whether these single nucleotide polymorphisms (SNPs) influence dyslexia, in our population. Our study identified 4 SNPs however, none of these SNPS were found to be significantly associated with dyslexia suggesting DYX1C1 allelic variants are not associated with dyslexia.

Larva currens in a case of organophosphorous poisoning.

A 20-year-old healthy farmer consumed organophosphorous poison. On third day he developed diarrhoea and on fourth day linear serpiginous ulcers appeared on both buttocks. Clinically lesions were considered as decubitus ulcers. By stool examination and other laboratory investigations it was diagnosed as cutaneous larva currens due to Strongyloides stercoralis in a case of organophosphorus poisoning. Patient responded very well to a course of albendazole.

On speed and aerodynamic forces of mosquito.

In the present investigation, speed of mosquitoes A. aegyptii (Linnè) and Culex quinquefasciatus (Say) is measured by designing and constructing a low speed wind tunnel in the laboratory. The velocity of mosquitoes is less than the other myogenic and neurogenic insects. Lift, one of the important aerodynamic forces that a flier has to develop for its efficient flight, is studied in mosquitoes by developing a simple technique using digital single pan balance. Lift, drag and their coefficients of hovering mosquito are calculated from the knowledge of body parameters by considering the wings of mosquito as harmonic oscillator. The calculated value of lift is verified with the experimental. The study throws light on morphophysiological adaptation of mosquitoes for the generation of aerodynamic forces in hovering, tethered and forward flights.

Variation Of HbS Frequency In Indian Population : Role Of P. Falciparum And Other Factors.

HbS is not merely confined to tribes, but also exists in other caste populations. As far as the distribution in tribes in concerned, three distinct foci are discernible conforming to three distinct major tribal clusters. However; wide variability exists within populations. The populations of mixed origin have elevated HbS frequencies. Overall correlation of plasmodium falciparum with HbS incidence is negligible, but significant positive correlation with % population spread of HbS to castes is an important observation. The Orissa situation needs special mention. The HbS gene is found in various caste populations including high castes and those with an AFI index of above 25% 0 with -thalassemia, it is expected that HbS frequency is in the process of increasing in these caste populations. Significant correlations obtained between districtwise distribution of HbS and latitude, % tribal population, % tribal cultivators and % tribal literacy are important from the point of view of understanding the population dynamics of HbS distribution in the Indian population.

Reversible non enhancing lesions without focal neurological deficits in eclampsia.

Nine patients with eclampsia, were subjected to computerized tomographic scan (CT scan) of the head to ascertain the changes in the brain that accompany seizures and encephalopathy of eclampsia. Only those patients who had a seizure within the past 24 h were included in this study. None of the patients had any focal neurological deficit. Six of the nine patients had abnormal findings on CT scan consisting of multiple non enhancing hypodensities in the cerebral white matter. One patient also had subependymal haemorrhage over the lateral ventricle. These changes were found to have disappeared when the CT scan was repeated on the seventh day. There was no correlation between the mean arterial blood pressure or the number of seizures and the presence of hypodensities in the brain. These findings suggest that subclinical changes in the form of reversible hypodensities and rarely bleeding can occur in eclampsia even when patients have no focal neurological deficits. It appears that these lesions represent focal areas of cerebral oedema, secondary to failure of autoregulation of cerebral blood flow.

Balloon angioplasty of the femoro-popliteal segment: follow up results from southern India.

BACKGROUND. Disease of the femoral and popliteal arteries, though one of the commonest manifestations of atherosclerosis, is under-recognized because the morbidity it produces is less catastrophic than coronary or cerebrovascular arterial involvement. Percutaneous transluminal angioplasty is performed for femoro-popliteal lesions at different centres in India, but post-angioplasty follow up data are scarce. We present our results after femoro-popliteal balloon angioplasty in 140 lesions. METHODS. Between 1986 and 1993, 140 femoro-popliteal angioplasties were performed in 119 patients with symptomatic limb ischaemia. Seventy-one per cent of patients had claudication and the others also had tissue loss. Eighty-two per cent of the lesions were occlusions. The average length of the lesions was 10.7 cm. Conventional wire-balloon angioplasty was performed in 128 lesions; in 12 others, laser-assisted balloon angioplasty was performed using an Nd-YAG laser thermal probe. Patients were followed up at regular intervals for any recurrence of symptoms and for objective evidence of restenosis or re-occlusion. RESULTS. Despite a technical success in 83% of the lesions, cumulative primary patency calculated by the life-table method showed a slow decline which plateaued at 40% after 36 months. Long occlusions and multifocal stenoses showed shorter cumulative patency following angioplasty (27 months and 5.8 months respectively). Extensive luminal irregularity due to post-angioplasty intimal flaps was reduced by using warm contrast for balloon dilatation in 16 patients. In 14 patients who had repeat angioplasty for restenosis, the secondary patency showed a satisfactory figure of 84% at 60 months. CONCLUSION. Percutaneous transluminal angioplasty is a satisfactory alternative to surgery in femoro-popliteal stenotic or occlusive disease. Regular follow up of such patients is essential in the first three years because re-occlusion can occur. We found that patency remained fairly constant after 36 months. Repeated angioplasty can maintain patency in patients with restenosis.

Biochemical Characterization of a Fast Moving G6PD Variant - G6PD 'INSULI'.

G6PD 'Insuli', a fast moving electrophoretic variant is detected and biochemically characterised, first time in india in a Sunni Muslim family of Maharashtra. The enzyme kinetics and electrophoretic mobility of the variant are similar to Negro type A. As direct evidence for the Negro admixture in the population is lacking, the variant is considered new until further molecular evidence.

Prevalence of HBsAg carriers among some tribes of Madhya Pradesh.

Prevalence of HBsAg was determined in 1314 sera obtained from 11 different tribal populations of five districts of Madhya Pradesh. Reversed passive haemagglutination assay was used for screening showed a HBsAg carrier rate of 2.99 to 21.54 per cent among the various tribes. Significant regional variation was also observed.