Allelic frequency database of 15 polymorphic autosomal STRs in the Malayalam-speaking population of Kerala,India

International Journal of Legal Medicine - In this study, we assessed and established an allelic frequency database of Malayalam-speaking population of south western Indian state Kerala, using 15...     

Genetic portrait study for 23 Y-STR loci in the population of Rajasthan,India

International Journal of Legal Medicine - This study was conducted to come up with data on Y-STR markers for the population of Rajasthan comprising of the western arid region of India. Y-STR...     

Pediatric intracranial aneurysms—our experience and review of literature

Purpose

Intracranial aneurysms in children are not as common as in adults and there are many differences in the etiology, demographic variables, aneurysm location, aneurysm morphological characteristics, clinical presentation, and outcome in pediatric and adult intracranial aneurysms.

Methods

All children (≤18 years) suffering from intracranial aneurysm managed at our center from July 2001 through June 2013 were included in the study, and the details of these patients were retrieved from the computerized database of our hospital.

Observations

A total of 62 pediatric patients were treated for 74 aneurysms during the study period and constituted 2.3 % of all intracranial aneurysms treated during the same period. The mean age at presentation was 13.5 years. Headache (82 %) was the commonest presenting feature; other symptoms included seizures (21 %), ictal loss of consciousness (27 %), and motor/cranial nerve deficits (22.6 %). Computed tomogram revealed subarachnoid hemorrhage in 58 % of patients. Eighty-two percent of aneurysms were in anterior circulation. Sixty-seven percent of aneurysms were complex aneurysms. Fifty-eight percent of patients underwent surgical intervention while 30 % underwent endovascular procedures. Twenty-one percent of the patients developed vasospasm. There was no postoperative mortality. Favorable outcome was seen in 72 % of the patients.

Conclusions

Pediatric intracranial aneurysms are uncommon as compared to in adult patients. Seizures and cranial nerve involvement are seen more often as the presenting features in children. Posterior circulation aneurysms are more common in children, as are the internal carotid artery bifurcation aneurysms. There is high incidence of giant, posttraumatic, and mycotic aneurysms in children.     

A phenotypically severe,biochemically “silent” case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing

3‐Hydroxyisobutyryl‐CoA dehydrogenase (HIBCH) deficiency is a rare error in valine catabolism associated with a Leigh syndrome‐like phenotype, mitochondrial dysfunction, and increased C4‐OH. We report the most severe case to date in a full‐term female who presented with poor feeding and nystagmus on day of life (DOL) 1. Although initial neuroimaging findings were concerning for metabolic disease, further metabolic testing was nondiagnostic and she was discharged on DOL 18. She was readmitted on DOL 22 after severe apneic episodes requiring intubation, with EEG demonstrating multifocal seizures and MRI/MRS demonstrating worsening findings. Care was withdrawn DOL 27 and she expired. Rapid whole exome sequencing (WES) demonstrated compound heterozygous variants in HIBCH with a paternal pathogenic variant (c.852delA, p.L284FfsX10 ) and a maternal likely pathogenic variant (c.488G>T, p.C163F). Fibroblast enzymatic testing demonstrated marked reduction in HIBCH levels. This case demonstrates the importance of rapid WES and follow‐up functional testing in establishing a diagnosis when metabolic disease is suspected but lacks an expected biochemical signature.     

Apoptosis of human tongue squamous cell carcinoma cell (CAL-27) induced by Lactobacillus sp. A-2 metabolites

Objective

To study the effect of Lactobacillus sp. A-2 metabolites on viability of CAL-27 cells and apoptosis in CAL-27 cells.

Methods

Lactobacillus sp. A-2 metabolites 1 and 2 (LM1 and LM2) were obtained by culturing Lactobacillus sp. A-2 in reconstituted whey medium and whey-inulin medium; the cultured CAL-27 cells were treated with different concentrations of LM1 and LM2 (0, 3, 6, 12, 24, 48 mg/mL) and assayed by methyl thiazolyltetrazolium (MTT) method; morphological changes of apoptotic cell were observed under fluorescence microscopy by acridine orange (Ao) fluorescent staining; flow cytometry method (FCM) and agarose gel electrophoresis were used to detect the apoptosis of CAL-27 cells treated LM1 and LM2.

Results

The different concentrations of LM1 and LM2 could restrain the growth of CAL-27 cells, and in a dose-dependent manner; the apoptosis of CAL-27 cells was obviously induced and was time-dependent.

Conclusions

Viability of CAL-27 cells was inhibited by Lactobacillus sp. A-2 metabolites; Lactobacillus sp. A-2 metabolites could induce CAL-27 cells apoptosis; study on the bioactive compounds in the Lactobacillus sp. A-2 metabolites and their molecular mechanism is in progress.     

Expediency of Tetra- and Pentanucleotide Repeat Autosomal STR Markers for DNA Typing in Central Indian Population

Proceedings of the National Academy of Sciences, India Section B: Biological Sciences - The STR typing has been regarded as the most reliable and robust genetic tool having a pivotal role in the...     

EDITORIAL. MEASURING QUALITY OF LIFE AMONG THE ELDERLY IN DEVELOPING COUNTRIES

A developing country perspective with respect to quality of life (QOL) needs to be understood despite the ambiguity that surrounds concepts of ‘QOL’, ‘elderly’ and ‘developing countries’. This editorial focuses on the demographic and epidemiologic transition, conceptual and methodological issues in measuring QOL.