A pilot study on DNA hypermethylation status in promoter region of P16 gene in patients with sporadic breast cancer.

Background: Epigenetic modification of cancer-related genes plays a role over and above their genetic alterations and contributes to the tumor initiation and progression of breast cancer. Promoter methylation of tumor suppressor genes is one such epigenetic modification, which can be potential biomarker. In this study, promoter methylation status of p16 gene was studied in blood samples of patients with breast carcinoma. Methods: Seventy-five patients, freshly diagnosed with carcinoma of breast and 20 age and sex matched healthy control subjects were recruited for the study. DNA extracted from EDTA blood sample was bisulfite converted and subjected to methylation-specific PCR to amplify the p16 promoter region. Results: Out of 75 patients, 25 (33%) patients showed hypermethylation in promoter region of p16 gene, which was statistically significant in comparison with the control group (p < 0.05). In subgroup analysis, lymph node involvement, cancer grade, and histopathological finding did not show any difference with methylation status of p16 promoter. Conclusion: Significant hypermethylation of p16 promoter region in the blood of histopathologically proven cases of breast cancer was observed suggesting promoter hypermethylation of p16 may be a possible mechanism accounting for sporadic carcinoma of breast.

Are thalassemia patients oxidatively challenged?

BACKGROUND: Repeated blood transfusions is the mainstay of treatment for beta thalassemia major patients. Multiple blood transfusions lead to significant iron overload in these patients. Iron overload causes liberation of oxygen free radicals and peroxidative lipid injury. This study has been designed to study whether thalassemics suffer from oxidative injury. It also aims to study the quantum of oxidative injury. METHODS: It is a cross sectional study using cases and controls. Thirty thalassemic patients receiving multiple blood transfusions were included in this study and thirty healthy age and sex matched controls were recruited for the study. Serum ferritin levels, malondialdehyde, nitric oxide levels were estimated. RESULTS: Levels of all the three parameters were significantly increased (p < 0.05) in the cases compared to controls. Mean levels of all three parameters were correlated with serum ferritin levels and number of blood transfusions in increasing order. All the parameters showed fair degree of correlation (r ≥ 0.25, p ≤ 0.05). CONCLUSION: Thalassemic patients receiving multiple blood transfusion suffer from iron overload which results in increased oxidative stress.

PAI-1 Study in Thalassemia Major Patients Receiving Multiple Blood Transfusion.

Thalassemia is a congenital hemolytic disease which is treated by repeated blood transfusion. Chronic iron overload is currently considered to be the primary cause of mortality in ß-thalassemia, mainly due to the induction of left-sided cardiac failure. Iron overload results from a number of mechanisms associated with the disease itself. In addition to chronic iron overload thalassemic patients are more prone for procoagulant status which in turn lead to clinical thrombotic events. The hypercoagulable state in thalassemia is due to multiple elements, a combination of which is often the drive behind a clinical thromboembolic events. PAI-1 study was done in thalassemia major patients receiving multiple blood transfusion as a marker for procoagulant status. Total of 30 thalassemic patients on repeated blood transfusion was included in the study and total of 30 healthy age and sex matched controls were included in the study. It was also found that there was significant differences between cases and controls. The mean level of PAI 1 in controls was 3047 ± 414 pg/ml, the value in cases was 3683 ± 358 pg/ml. The level was significantly increased (p < 0.05) in the cases compared to controls. PAI-1 levels were also compared with the total number of blood transfusion which correlates well.

Correlation of Microalbuminuria with Estimated GFR (eGFR) by Cockcroft-Gault and MDRD Formula in Type 2 Diabetics and Hypertensives.

Increase in urine albumin excretion rate (AER) precede a fall in glomerular filtration rate in patients developing diabetic chronic kidney disease (CKD). Our results have shown that 7 (50 %) of diabetic and hypertensive individuals with decreased GFR do not have increased AER. In this cross-sectional study, we measured AER of 75 patients with type 2 diabetes and hypertension by immunoturbidimetric method. We correlated the results with eGFR values obtained by Cockcroft-Gault and MDRD method. The method used was not a compensated method. We measured serum creatinine by modified Jaffe's kinetic method in autoanalyzer XL-600. Analysis of data showed positive correlation between eGFR and microalbuminuria by both the methods with eGFR <60 mL/min/1.73 m(2). Pearson's correlation co-efficient (r) was 0.9 (p = 0.0001) by Cockcroft-Gault formula and 0.69 (p = 0.0063) by MDRD formula. Our results concluded that there was positive correlation between AER and eGFR <60 mL/min/1.73 m(2). We have recognized that these two parameters provide a complimentary benefit in management of cases with CKD.

Comparative study of serum amylase and lipase in acute pancreatitis patients.

To establish utility of single enzymatic marker for the diagnosis of acute pancreatitis. This is a cohort study. Tertiary care centre proven cases of acute pancreatitis (n = 50) admitted in surgery ward between December 2011 and May 2013 were included in the study. Serum amylase and lipase were performed along with many analytes. All relevant data including serum lab values and imaging were collected. All 50 patients included in the study had raised serum lipase, 42 patients had both amylase and lipase raised, 8 patients had amylase normal but lipase raised. In smaller hospitals where limited lab and radiological facilities are available, estimation of serum lipase will be a better choice over serum amylase in diagnosis of acute pancreatitis.

Study of Clinicobiochemical Spectrum of Hypothyroidism.

BACKGROUND: The aim of this study was to assess the clinico biochemical spectrum of hypothyroidism and the relative importance of thyroid function tests, clinical symptoms and signs in thyroid dysfunction. METHODS: A retrospective study was done and 1702 requisitions for screening of hypothyroidism were analysed. The clinical presentation of cases was correlated with the results of thyroid profile tests. RESULTS: 31.5% of the 1702 cases referred had thyroid dysfunction in the form of subclinical or overt hypothyroidism. In the hypothyroid group generalized weakness, weight gain and myxoedema was common. In cases of primary infertility and depression, subclinical and overt hypothyroidism was high (40% and 45.8% respectively). The average age of females with subclinical hypothyroidism was 30.8 years, 5.4 years less than females with overt hypothyroidism. CONCLUSION: We conclude that hypothyroidism is common and often under-diagnosed. Therefore routine evaluation of female patients with weight gain, generalized weakness, infertility, depression and mood changes should include thyroid profile.

History of biochemistry.

Biochemistry in broad terms is the study of the chemical composition of the living matter and the biochemical processes that underlie life activities during growth and maintenance. This article is an attempt to explore the metamorphosis of biochemistry from a pupa entwined in its own cocoon to a vibrantly colored phenomenon. Studies pertaining to this discipline of science began with Biochemistry interfaces with biology and chemistry even before nineteenth century with studies concerned with the chemical processes that take place within living cells. Modern biochemistry developed out of and largely came to replace what in the nineteenth and early twentieth centuries was called physiological chemistry, which dealt more with extra cellular chemistry, such as the chemistry of digestion and of body fluids. The name Biochemistry was coined in 1903 by a German chemist named Carl Neuber. However, work in this very living, aspect of chemistry had started much earlier. Claude Bernard is accredited with the Sirehood of Biochemistry. During the later part of the nineteenth century eminent scientists contributed a great deal to the elucidation of the chemistry of fats, proteins and carbohydrates. At this period some very fundamental aspects of enzymology were under close scrutiny. Study of nucleic acid is central to the knowledge of life but its fusion with biochemistry started with works of Fredrick Sanger and Har Gobind Khurana. Their experiments involved a subtle bland of enzymology and chemistry that few would have thought possible to combine. The scientists were busy removing the mist that was mitigating the light of knowledge but they still lacked an insight into the cell. In 1990's research turned to finding the structural details of cell. The field of molecular biochemistry was also progressing at an almost unstoppable speed having expanded its horizons beyond human imagination with the introduction of PCR, creating waves of appreciation from every field of medicine and then coming out of the lab to help establish better therapies for various diseases by introduction of gene therapy. Biochemistry has promises to the world of science in development of new path-breaking research and coming times would surely prove these promises to be fulfilled.