Alkaptonuric ochronosis: Report of a case and brief review

Alkaptonuria, a metabolic disorder characterized by a triad of homogentisic aciduria, arthritis and ochronosis is one of the first conditions in the charter of group of inborn errors of metabolism proposed to have Mendelian recessive inheritance. It is due to the deficiency of the enzyme homogentisic acid oxidase which catalyzes the conversion of homogentisic acid to maleylacetoacetic acid in the catabolism of tyrosine. Homogentisic acid thus accumulates in cells and body fluids and its oxidized polymers bind to collagen, leading to progressive deposition of grey to bluish black pigment resulting in degenerative changes in cartilage, intervertebral disc and other connective tissues, leading to arthritis which is the only disabling effect in an affected older individual. However the diagnosis can be made in neonates when blackish stain is noticed in an unwashed diaper. Alkaptonuria is treated symptomatically, surgical intervention necessitates in advanced stages, treatment with ascorbic acid (Vitamin C) and dietary restrictions of food containing phenylalanine and tyrosine have proved to be successful in alleviating the symptoms.     

Serum adenosine deaminase, 5′ nucleotidase and malondialdehyde in acute infective hepatitis

Serum adenosine deaminase (ADA), 5′ nucleotidase (5′NT) and malondialdehyde (MDA) were estimated in patients with acute infective hepatitis (AIH) along with the routine parameters of liver disease. Present study is done to evaluate these special parameters in patients with clinical history of AIH and to assess the utility of these parameters as diagnostic/ prognostic indices of liver function and to correlate special parameters with routine live function tests (LFT). ADA, 5′NT and MDA along with routine LFT was estimated in 25 patients with AIH and 25 samples from healthy voluntary blood donars served as the control group. Routine LFT was estimated by standard clinical chemistry procedures on dade behring analyser and ADA, 5′NT and MDA were estimated by berthlot reaction, fiske and subbarao method and thiobarbituric acid method respectively. Statistical analysis showed that serum ADA, 5′NT and MDA were significantly higher in patients as compared with the controls. There was a significant positive correlation between ADA and total bilirubin and MDA and total bilirubin. Hence we can conclude that these tests would be more sensitive to diagnose the patients with AIH and that the raised bilirubin levels could be looked upon, as a protective mechanism which the liver has evolved in order to combat oxidative stress.     

Role of Plasma MMP 9 levels in the Pathogenesis of Chronic Pancreatitis

Pancreatic fibrosis is a key pathological feature in the etiology of chronic pancreatitis that leads to obliteration of exocrine and endocrine pancreatic tissues and its replacement by fibrous tissue resulting in clinical manifestations. Matrix metalloproteinase 9 is a member of the MMP family that is also known as gelatinase B, degrades type IV collagen of extracellular matrix and basal membrane. The present study is aimed at evaluating the clinical significance of plasma concentration of MMP-9 in chronic pancreatitis. The samples were obtained from 112 chronic pancreatitis patients and an equal number of age and sex matched healthy controls. MMP-9 levels were quantitatively measured by ELISA assay. Statistical analysis was applied to test the significance of results. The present study revealed a significant increase of plasma MMP 9 levels in chronic pancreatitis patients compared to control subjects. Elevated levels were also observed in all the patient groups compared to control subjects with regard to sex, age, addictions etc. MMP-9 degrades the type IV collagens in normal basement membrane, which in turn activates the pancreatic stellate cells which promote the development of pancreatitic fibrosis. Thus, elevated plasma levels of MMP-9 may act as a susceptibility factor for the development of chronic pancreatitis.     

Situation of Divorced Mothers in India: Implications for Counseling

In a culture where high premium is placed on marriage, a divorced mother faces many challenges. Striving for shelter and economic security is harder due to lack of social acceptance, support and inadequate services. For a counsellor the social realities are as important as the psychological ones.This article is based on the observations and experiences of the author who has been a marriage counsellor at the first Family Court in India.     

CFTR Gene Mutations and Asthma in Indian Children: A Case–Control Study

Cystic Fibrosis Trans membrane conductance regulator (CFTR) gene is an asthma susceptibility gene. In the present study we investigated the possible association of CFTR gene mutations in Indian asthmatic children as compared to controls. The study included 250 asthmatics and 250 age and sex matched controls. Case to control ratio for sample size was 1:1. Genotyping was performed for 24 CFTR gene mutations by ARMS-PCR and PCR–RFLP method. Among 24 CFTR gene mutations, heterozygous allele of R553X mutation was found in 4 (1.6 %) asthmatic cases and 2 (0.8 %) controls. Value of FVC and FEV1/FVC ratio were significantly lower in heterozygous individuals (p value <0.05). No significant difference was observed in the genotype and allele frequency of R553X mutation (OR = 1.339, 95 % CI = 0.755–2.374, p value = 0.685). Furthermore, all wild type homozygous alleles were observed in remaining 23 CFTR gene mutations. Our data concludes that R553X mutation was not significantly associated in Indian asthmatic children.     

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.     

Plasma TGF-β1, MMP-1 and MMP-3 Levels in Chronic Pancreatitis

Chronic pancreatitis (CP) presenting clinically with upper abdominal pain, as well as exocrine and endocrine insufficiencies, is characterized by irreversible morphological and functional alterations in the pancreas. The objective of the present study is to investigate the plasma levels of transforming growth factor-β 1 (TGF-β1), matrix metalloproteinases MMP-1 (collagenase) and MMP-3 (stromelysin) in CP. A total of 71 CP patients and 100 control subjects were considered for the study. Plasma levels of TGF-β1, MMP-1 and MMP-3 were determined by enzyme-linked immunosorbent assay in patients and control subjects. The plasma levels of TGF-β1 and MMP-1 were significantly elevated in patients compared to control group (*P = 0.0301, **P < 0.0001). However, there was no significant difference in the plasma levels of MMP-3 between patients and controls (P = 0.3756). The elevated levels of TGF-β1 and MMP-1 may influence the inflammatory reactions by enhancing the pancreatic stellate cell activation and deposition of extracellular matrix resulting in pancreatic fibrosis. Thus, the present study highlights the role of fibrogenic cytokine marker TGF-β1 and matrix metalloproteinases in the pathogenesis of CP.     

Therapeutic uses ofCurcuma longa (turmeric)

Curcuma longa commonly known as tumeric is traditionally used as a spice in Indian food. A wide range of biological activities e.g. anticancer, antimicrobial, antiinflammatory and free radical scavenging activity of the plant suggests a logical basis for its traditional use in foodstuff. Various phytothreapeutic uses ofCurcuma longa have been reviewed.     

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 m². 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 m². We have recognized that these two parameters provide a complimentary benefit in management of cases with CKD.