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Elevated plasma triglyceride and non-esterified fatty acid concentrations may cause insulin resistance and type 2 diabetes mellitus. Lipoprotein lipase (LPL) is a rate-determining enzyme in lipid metabolism. A variant in the LPL gene has been identified which alters the penultimate amino acid Serine at 447 to a stop codon (S447X), and results in a truncated LPL molecule lacking the C-terminal dipeptide Ser–Gly. The present study was designed to evaluate the frequency of S447X variant in the LPL gene and its effect on the lipid and lipoprotein levels in type 2 diabetic subjects. The genotype frequency distributions of type 2 diabetes patients and controls were in Hardy–Weinberg equilibrium. Comparison of the genotype and allelic frequencies of S447X in subjects with type 2 diabetics compared to controls demonstrated no significant difference. In subjects with type 2 diabetics having hypertriglyceridemia (TG ≥ 150 mg/dl) compared to diabetics with TG level

Amyloidosis is a group of disease that is characterized by the deposition of extracellular abnormal proteinaceous material (amyloid), in various organs. Amyloidosis involving the liver is common, and the radiological findings are often nonspecific. We present the case of a 40-year-old female who presented with abdominal pain. Ultrasound abdomen was reported as massive hepatomegaly with diffuse liver parenchymal disease. Bone marrow aspiration showed normomegaloblastic erythroid hyperplasia and plasma cells were within normal limits (5%). Also, amorphous, eosinophilic fragmented to smudgy material within the interstitium of cell trails was seen. Bone marrow biopsy and liver biopsy also showed similar kind of homogenous eosinophilic material. Both liver biopsy and bone marrow biopsy were subjected to special stains which confirmed the presence of amyloid. The patient did not have clinical or laboratory findings suggestive of any other organ involvement. Thus, we conclude that clinical and imaging presentations of amyloidosis are often nonspecific, hence biopsy is always required to confirm the diagnosis. Amyloid deposits on bone marrow aspiration are a rare occurrence and are often missed. It is an unusual sighting with very few studies mentioning its occurrence.

Insulin resistance has a central role, not only to predict the future development of type 2 diabetes and incident cardiovascular diseases; as well as can be used as a therapeutic target after hyperglycemia is diagnosed. The use of surrogate markers therefore be useful to know the status of insulin resistance. The HOMA IR can perform same function, and the ratios calculated from the lipids and lipoprotein may also be useful to know the status of the insulin resistance in type 2 diabetic patients. In the present study 150 type 2 diabetic subjects and 150 age & sex matched healthy controls were included, to find the cut off value of HOMA IR as well as lipid & lipoprotein ratios to predict insulin resistance. The ROC curve analysis gave the cut off value of >2.41 for HOMA IR with highest sensitivity and specificity, further type 2 diabetics were divided on the basis of cut off value of HOMA IR from present study. Significant increases in TG, VLDL-C, TC/HDL-C, TG/HDL-C, LDL-C/HDL-C ratios were found in patients with HOMA IR cut off value of >2.41 than with HOMA IR cut off value of ≤ 2.41. Also the ROC curve analysis for lipids and lipoproteins indicated that, TC, TG, TC/HDL-C, TG/HDL-C, LDL-C/HDL-C, CRF and Non HDL-C serves the better discriminator for insulin resistance. Therefore, the lipoprotein ratios along with the lipid and lipoprotein levels may be used as markers for insulin resistance.

Type 2 diabetes mellitus is a genetically heterogeneous condition, characterized by insulin deficiency and/or insulin resistance. The etiology of type 2 diabetes is complex, with involvement of genetic and environmental factors. The adipose tissue protein ‘adiponectin’ is known to increase insulin sensitivity with decreased risk of type 2 diabetes mellitus. The gene for adiponectin is present on chromosome 3q27, the association of number of single nucleotide polymorphisms of adiponectin gene with type 2 diabetes and its complications have been reported. In the present study the two most common SNPs +45T/G & +276G/T, and their association with type 2 diabetes mellitus and cardiovascular markers were studied. The significant difference in genotype frequencies of +45T/G & +276G/T was found in type 2 diabetic patients and controls, with odds ratio of 1.13 & 1.26 respectively. BMI, Fasting blood glucose, fasting insulin, HOMA IR, triglyceride and VLDL cholesterol levels were increased, and HDL cholesterol level was decreased in patients carrier for +45T/G SNP than the wild type. While only decrease in the HDL cholesterol was reported in carriers for SNP +276G/T than the wild type. The logistic regression analysis revealed the positive association of SNP +45T/G with total cholesterol & LDL cholesterol. And negative association of HDL cholesterol was found with SNPs +45T/G and +276G/T. The haplotype analysis shows the alterations in means of biochemical markers in the patients having haplotype (GG) for mutant allele of SNP +45T/G and wild allele for SNP +276G/T.

In 2009, an outbreak of hepatitis B with high mortality was observed in Sabarkantha district, Gujarat state, India with 456 cases and 89 deaths. Hospitalized patients with self-limiting disease (152, AVH)) and fulminant hepatic failure (39, FHF including 27 fatal and 12 survivals) were investigated. These were screened for diagnostic markers for hepatitis viruses, hepatitis B virus (HBV) genotyping and mutant analysis. Complete HBV genomes from 22 FHF and 17 AVH cases were sequenced. Serosurveys were carried out in the most and least affected blocks for the prevalence of HBV and identification of mutants. History of injection from a physician was associated with FHF and AVH cases. Co-infection with other hepatitis viruses or higher HBV DNA load was not responsible for mortality. Four blocks contributed to 85.7% (391/456) of the cases and 95.5% (85/89) mortality while two adjacent blocks had negligible mortality. Sequence analysis showed the presence of pre-core and basal core promoter mutants and 4 amino acid substitutions exclusively among FHF cases. None of the self-limiting patients exhibited these dual mutations. Genotype D was predominant, D1 being present in all FHF cases while D2 was most prevalent in AVH cases. Probably due to violation of accepted infection control procedures by the qualified medical practitioners, HBV prevalence was higher in the affected blocks before the outbreak. Gross and continued use of HBV contaminated (mutant and wild viruses) injection devices led to an explosive outbreak with high mortality with a striking association with pre-C/BCP mutants and D1 genotype.

Hepatitis C virus (HCV), a major causative agent of chronic hepatitis, is classified into six major genotypes. Genotype 3 HCV infection is more sensitive to interferon therapy. In India, genotype 3, particularly subtype 3a, HCV infections are common. Three novel HCV subtypes i.e., 3g, 3j, and 3i were identified from India based on partial genomic sequences. This report provides full genome sequences of one isolate each of subtypes 3i and 3a. Serum samples positive for subtype 3i and 3a HCV RNA based on core region genomic sequences were studied. Complete HCV genomes were amplified as 11 overlapping PCR fragments and sequenced. The complete genomic sequence of Indian HCV 3i isolate clustered with other genotype 3 sequences, and was closer to subtypes 3b and 3a (80.5% and 79.1% [SD 0.4%] nucleotide identity). Nucleotide similarities were the highest in the core region (86.1–88.7%), and the least in the E2 region (69.4–70.7%). Phylogenetic tree analysis confirmed the existence of a separate subtype 3i. The Indian HCV 3a isolate’s complete genomic sequences clustered with previously known genotype 3a sequences with a nucleotide similarity of 91.1% (SD 0.2%). Neither isolates showed evidence of recombination of different HCV genotypes. The information on complete genomic sequences of the genotype 3 HCV isolates should be helpful in future studies on HCV evolution and classification, and for development of newer therapeutic and preventive strategies against this infection.