Molecular diagnosis of urea cycle disorders: Current global scenario.

Urea cycle disorders are a group of inborn error of metabolism, characterized by hyperammonemia, metabolic alkalosis and clinical features of encephalopathy. These are among the commonest types of inborn errors of metabolism with a frequency of 1 in 8,000 to 1 in 30,000 in different population. This encompasses 5 major disorders, corresponding with deficiency of each step in the urea cycle, namely ornithine transcarbamoylase (OTC) deficiency, argininosuccinate lyase (ASL) deficiency, carbamoyl phosphate synthetase (CPS) deficiency, citrullinemia and argininemia. The most important clinical presentation is neurological abnormalities. The severity of UCD is correlated to extent of hyperammonemia. Early diagnosis and treatment are essential for successful patient outcome. Various modalities of treatment have been recommended; namely, treatment aimed at reducing ammonia level, including drugs like sodium benzoate and sodium phenyl butyrate, neuroprotective strategies, low protein diet, liver transplantation and hepatocyte transplantation. Molecular diagnosis is important to identify the pathogenesis of these disorders as well as it helps in prognosis. This review intends to summarize the important aspects of molecular diagnostic studies on urea cycle disorders.

Effects of micronutrient status on oxidative stress and exocrine pancreatic function in patients with chronic pancreatitis.

Micronutrient deficiency and oxidative stress in relation to pancreatic exocrine insufficiency among chronic pancreatitis (CP) patients needs closer scrutiny. In this study, we examined the role of micronutrients (Zn and Cu) on oxidative stress related parameters and stool elastase-1 in tropical chronic pancreatitis (TCP) and alcoholic chronic pancreatitis (ACP) patients. We also compared oxidative stress parameters in CP patients with low and normal pancreatic stool elastase-1, estimation of which is the best available test for detecting pancreatic exocrine insufficiency. Ninety-one (56 male and 35 female) TCP cases, 84 ACP cases and 113 (60 male and 24 female) healthy controls were studied. Levels of reduced glutathione (GSH), ascorbic acid and zinc and activities of glutathione peroxidase (GPx), superoxide dismutase (SOD) reduced significantly, while thiobarbituric acid reactive substance (TBARS) and copper level increased significantly in erythrocytes of both ACP and TCP patients in comparison to healthy controls. However, we did not find differences in these parameters between diabetic and non-diabetic TCP patients or between diabetic and non-diabetic ACP patients. The study suggested an association between pancreatic exocrine insufficiency and oxidative parameters, while zinc deficiency was found to be correlated with SOD and pancreatic exocrine insufficiency in CP, irrespective of its etiology.

ErbB-2 expression and its association with other biological parameters of breast cancer among Indian women.

Objectives: Overexpression of the epidermal growth factor receptor family genes, which include ErbB-1, 2, 3 and 4, has been implicated in a number of cancers. We have studied the extent of ErbB-2 overexpression among Indian women with sporadic breast cancer. Methods: Immmunohistochemistry and genomic polymerase chain reaction (PCR) were used to study the ErbB2 overexpression. ErbB2 status was correlated with other clinico-pathological parameters, including patient survival. Results: ErbB-2 overexpression was detected in 43.2% (159/368) of the cases by immunohistochemistry. For a sub-set of patients (n = 55) for whom total DNA was available, ErbB-2 gene amplification was detected in 25.5% (14/55) of the cases by genomic PCR. While the ErbB2 overexpression was significantly higher in patients with lymphnode (χ2 = 12.06, P≤ 0.001), larger tumor size (χ2 = 8.22, P = 0.042) and ductal carcinoma (χ2 = 15.42, P ≤ 0.001), it was lower in patients with disease-free survival (χ2 = 22.13, P ≤ 0.001). Survival analysis on a sub-set of patients for whom survival data were available (n = 179) revealed that ErbB-2 status (χ2 =25.94, P ≤ 0.001), lymphnode status (χ2 = 12.68, P ≤ 0.001), distant metastasis (χ2 = 19.49, P ≤ 0.001) and stage of the disease (χ2 = 28.04, P ≤0.001) were markers of poor prognosis. Conclusions: ErbB-2 overexpression was significantly greater compared with the Western literature, but comparable to other Indian studies. Significant correlation was found between ErbB-2 status and lymphnode status, tumor size and ductal carcinoma. ErbB-2 status, lymph node status, distant metastasis and stage of the disease were found to be prognostic indicators.

Cataract blindness on the rise? Results of a door-to-door examination in Mohadi.

A census survey in Mohadi block, Bhandara district of Maharashtra, indicated that the prevalence of blindness and cataract blindness has increased, compared with the 1986 survey. Around one third of the persons blind from cataract have been covered by surgical services. To increase coverage, more emphasis on information, education and communication is essential.