MTHFR (Ala 222 Val) polymorphism and AMI in patients with type II diabetes mellitus

The prevalent Ala222Val single nucleotide polymorphism of the MTHFR gene has been shown to be associated with type II diabetes. The objective of the present study was to find out whether there is genetic predisposition for development of acute myocardial infarction in type II diabetes mellitus among South Indian Tamil population. PCR-based restriction enzyme analysis was performed in DNA isolated from 120 acute myocardial infarction patients with diabetes mellitus and 100 non diabetic healthy individuals with no documented cardiovascular diseases. The results indicate that the MTHFR 677TT genotype is absent in both case and controls. The MTHFR 677CT genotype was observed among 32 (26.7 %) cases and 20 (20%) controls and the MTHFR 677CC genotype among 88 (73.3%) cases and 80 (80%) controls. The allelic frequencies were in accordance to Hardy Weinberg equilibrium. There was no statistical difference in genotype distribution between cases and controls. In conclusion, we suggest that the analysis of MTHFR genotyping for C677T polymorphism alone need not be considered to find out whether there is genetic predisposition for development of acute myocardial infarction in type II diabetes mellitus among South Indian Tamil population.     

EFLM Position Statement: Our profession now has a European name: Specialist in Laboratory Medicine

We need a common name to have a clear identity which best describes the scope of the work we carry out for the patients.A clear and easily understood name which reflects the level of education and training of a specialist in the medical laboratory, and hence eligibility to be on the EC4 Register, is therefore needed, whatever academic background and whether polyvalent or sub-specialised.     

A Review of “Profiles of New York State—Facts,Figures & Statistics for 2,365 Populated Places in New York”

In 2015, the information literacy (IL) team designed an instrument to determine international graduate business students' perceptions of their IL skills and their actual test-assessed IL skills. The purpose of this research was to compare international graduate students' perceptions of their IL skills versus their test-assessed competencies, with the aim of creating training modules to improve test-identified deficiencies. Results demonstrate that wide discrepancies exist between students' perceptions of their own skills and their actual skills on all six ILA-topic areas assessed by the internally developed test instruments, with students overestimating their abilities in all areas.     

Maple syrup urine disease: An uncommon cause for neonatal metabolic distress

Maple Syrup Urine Disease is an autosomal recessive disorder caused by a deficiency in the activity of the branched-chain α-ketoacid dehydrogenase complex. This rare disorder represents one of the causes of acute neonatal illness which results in devastating disturbances of neurological development. On investigation of 1750 infants with neurological impairment for inborn errors of amino acid metabolism, 4 neonates with classical maple syrup urine disease were detected. These otherwise normal neonates presented in the first week after birth with seizures, lethargy and refusal of feeds, hypoglycemia and metabolic acidosis. The plasma and urine concentrations of the branched-chain amino acids were increased and there was ketoaciduria. Two of these neonates expired before specific treatment could be instituted. Routine biochemical screening of neonates with acute illness could unearth many cases of this rare inherited metabolic disease.