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   2011| October  | Volume 134 | Issue 4  
    Online since November 15, 2011

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Abnormal haemoglobins: Detection & characterization
Henri Wajcman, Kamran Moradkhani
October 2011, 134(4):538-546
Haemoglobin (Hb) abnormalities though quite frequent, are generally detected in populations during surveys and programmes run for prevention of Hb disorders. Several methods are now available for detection of Hb abnormalities. In this review, the following are discussed: (i) the methods used for characterization of haemoglobin disorders; (ii) the problems linked to diagnosis of thalassaemic trait; (iii) the strategy for detection of common Hb variants; and (iv) the difficulties in identification of rare variants. The differences between developing and industrialized countries for the strategies employed in the diagnosis of abnormal haemoglobins are considered. We mention the limits and pitfalls for each approach and the necessity to characterize the abnormalities using at least two different methods. The recommended strategy is to use a combination of cation-exchange high performance chromatography (CE-HPLC), capillary electrophoresis (CE) and when possible isoelectric focusing (IEF). Difficult cases may demand further investigations requiring specialized protein and/or molecular biology techniques.
  8,744 1,594 -
Past, present & future scenario of thalassaemic care & control in India
Ishwar C Verma, Renu Saxena, Sudha Kohli
October 2011, 134(4):507-521
The first case of thalassaemia, described in a non-Mediterranean person, was from India. Subsequently, cases of thalassaemia were documented in all parts of India. Centres for care of thalassaemics were started in the mid-1970s in Mumbai and Delhi, and then in other cities. The parent's associations, with the help of International Thalassemia Federation, greatly helped in improving the care of thalassaemics. Obtaining blood for transfusion was difficult, but the Indian Red Cross Society and the parent's associations played a crucial role in arranging voluntary donations of blood. Chelation with deferoxamine was used sparingly due to the high cost. The Indian physicians conducted trials with deferiprone, and the drug was first approved and marketed in India. Deferasirox is also now being administered. Studies of physical and pubertal growth documented significant retardation, suggesting that generally patients receive inadequate chelation and transfusions. Bone marrow transplantation is available at a number of centres, and cord blood stem cell storage facilities have been established. Information about mutations in different parts of India is available, and ThalInd, an Indian database has been set up. There is a need to set up preimplantation genetic diagnosis and non-invasive prenatal diagnosis. It is argued that too much emphasis should not be placed on premarital screening. The focus should be on screening pregnant women to yield immediate results in reducing the burden of this disorder. Care of thalassaemia has been included in the 12 th 5-year Plan of the Government of India. Many States now provide blood transfusions and chelation free of cost. Although inadequacies in care of thalassaemia remain, but the outlook is bright, and the stage is set for initiating a control programme in the high risk States.
  7,234 767 -
Genetic counselling in tribals in India
Dipika Mohanty, Kishalaya Das
October 2011, 134(4):561-571
Genetic counselling in tribals unlike general population residing in cities and near villages is a difficult task due of their lower literacy and poor socio-economic status. However, sustained effort is essential with a close interaction in the local language, certain misbeliefs need to be removed gradually taking into account their socio-cultural background. The present communication deals with our experience in counselling for haemoglobinopathies during Neonatal Screening Programme undertaken for sickle cell disease in Kalahandi district of Orissa and Community Screening Programmes in primitive tribes of India in four States viz. Orissa, Gujarat, Tamil Nadu and Maharashtra. Counselling during neonatal screening programme was very well accepted demonstrating the benefit to the small babies as regards the morbidity. Premarital marriage counselling was also accepted by them. The success rate as followed up for 5 years is almost 50 per cent, the limitation being long follow up. Genetic counselling in these areas has to be continuous to achieve success and therefore the need for setting up of permanent centres in the tribal areas in India.
  5,588 434 -
Pathophysiological insights in sickle cell disease
Marie-Hélène Odièvre, Emmanuelle Verger, Ana Cristina Silva-Pinto, Jacques Elion
October 2011, 134(4):532-537
The first coherent pathophysiological scheme for sickle cell disease (SCD) emerged in the sixties-seventies based on an extremely detailed description of the molecular mechanism by which HbS in its deoxy-form polymerises and forms long fibres within the red blood cell that deform it and make it fragile. This scheme explains the haemolytic anaemia, and the mechanistic aspects of the vaso-occlusive crises (VOCs), but, even though it constitutes the basic mechanism of the disease, it does not account for the processes that actually trigger VOCs. This paper reviews recent data which imply: red blood cell dehydration, its abnormal adhesion properties to the endothelium, the participation of inflammatory phenomenon and of a global activation of all the cells present in the vessel, and finally, abnormalities of the vascular tone and of nitric oxide metabolism. These data altogether have shed a new light on the pathophysiology of the first molecular disease i.e. sickle cell disease.
  4,911 1,075 -
Haemoglobinopathies in Southeast Asia
Suthat Fucharoen, Pranee Winichagoon
October 2011, 134(4):498-506
In Southeast Asia α-thalassaemia, β-thalassaemia, haemoglobin (Hb) E and Hb Constant Spring (CS) are prevalent. The abnormal genes in different combinations lead to over 60 different thalassaemia syndromes, making Southeast Asia the locality with the most complex thalassaemia genotypes. The four major thalassaemic diseases are Hb Bart's hydrops fetalis (homozygous α-thalassaemia 1), homozygous β-thalassaemia, β-thalassaemia/Hb E and Hb H diseases. α-Thalassaemia, most often, occurs from gene deletions whereas point mutations and small deletions or insertions in the β-globin gene sequence are the major molecular defects responsible for most β-thalassaemias. Clinical manifestations of α-thalassaemia range from asymptomatic cases with normal findings to the totally lethal Hb Bart's hydrops fetalis syndrome. Homozygosity of β-thalassaemia results in a severe thalassaemic disease while the patients with compound heterozygosity, β-thalassaemia/Hb E, present variable severity of anaemia, and some can be as severe as homozygous β-thalassaemia. Concomitant inheritance of α-thalassaemia and increased production of Hb F are responsible for mild clinical phenotypes in some patients. However, there are still some unknown factors that can modulate disease severity in both α- and β-thalassaemias. Therefore, it is possible to set a strategy for prevention and control of thalassaemia, which includes population screening for heterozygotes, genetic counselling and foetal diagnosis with selective abortion of affected pregnancies.
  4,193 1,380 -
Hb E/beta-thalassaemia: A common & clinically diverse disorder
Nancy F Olivieri, Zahra Pakbaz, Elliott Vichinsky
October 2011, 134(4):522-531
Haemoglobin E-beta thalassaemia (Hb E/β-thalassaemia) is the genotype responsible for approximately one-half of all severe beta-thalassaemia worldwide. The disorder is characterized by marked clinical variability, ranging from a mild and asymptomatic anaemia to a life-threatening disorder requiring transfusions from infancy. The phenotypic variability of Hb E/β-thalassaemia and the paucity of long-term clinical data, present challenges in providing definitive recommendations for the optimal management of patients. Genetic factors influencing the severity of this disorder include the type of beta-thalassaemia mutation, the co-inheritance of alpha-thalassaemia, and polymorphisms associated with increased production of foetal haemoglobin. Other factors, including a variable increase in serum erythropoietin in response to anaemia, previous or ongoing infection with malaria, previous splenectomy and other environmental influences, may be involved. The remarkable variation, and the instability, of the clinical phenotype of Hb E beta-thalassaemia suggests that careful tailoring of treatment is required for each patient, and that therapeutic approaches should be re-assessed over-time.
  2,635 852 -
Invasive & non-invasive approaches for prenatal diagnosis of haemoglobinopathies: Experiences from India
RB Colah, AC Gorakshakar, AH Nadkarni
October 2011, 134(4):552-560
The thalassaemias and sickle cell disease are the commonest monogenic disorders in India. There are an estimated 7500 - 12,000 babies with β-thalassaemia major born every year in the country. While the overall prevalence of carriers in different States varies from 1.5 to 4 per cent, recent work has shown considerable variations in frequencies even within States. Thus, micromapping would help to determine the true burden of the disease. Although screening in antenatal clinics is being done at many centres, only 15-20 per cent of pregnant women register in antenatal clinics in public hospitals in the first trimester of pregnancy. There are only a handful of centres in major cities in this vast country where prenatal diagnosis is done. There is considerable molecular heterogeneity with 64 mutations identified, of which 6 to 7 common mutations account for 80-90 per cent of mutant alleles. First trimester foetal diagnosis is done by chorionic villus sampling (CVS) and DNA analysis using reverse dot blot hybridization, amplification refractory mutation system (ARMS) and DNA sequencing. Second trimester diagnosis is done by cordocentesis and foetal blood analysis on HPLC at a few centres. Our experience on prenatal diagnosis of haemoglobinopathies in 2221 pregnancies has shown that >90 per cent of couples were referred for prenatal diagnosis of β-thalassaemia after having one or more affected children while about 35 per cent of couples were referred for prenatal diagnosis of sickle cell disorders prospectively. There is a clear need for more data from India on non-invasive approaches for prenatal diagnosis.
  2,574 654 -
An insight into the drug resistance profile & mechanism of drug resistance in Neisseria gonorrhoeae
Achchhe Lal Patel, Uma Chaudhry, Divya Sachdev, Poonam Nagpal Sachdeva, Manju Bala, Daman Saluja
October 2011, 134(4):419-431
Among the aetiological agents of treatable sexually transmitted diseases (STDs), Neissseria gonorrhoeae is considered to be most important because of emerging antibiotic resistant strains that compromise the effectiveness of treatment of the disease - gonorrhoea. In most of the developing countries, treatment of gonorrhoea relies mainly on syndromic management rather than the aetiological based therapy. Gonococcal infections are usually treated with single-dose therapy with an agent found to cure > 95 per cent of cases. Unfortunately during the last few decades, N. gonorrhoeae has developed resistance not only to less expensive antimicrobials such as sulphonamides, penicillin and tetracyclines but also to fluoroquinolones. The resistance trend of N. gonorrhoeae towards these antimicrobials can be categorised into pre-quinolone, quinolone and post-quinolone era. Among the antimicrobials available so far, only the third-generation cephalosporins could be safely recommended as first-line therapy for gonorrhoea globally. However, resistance to oral third-generation cephalosporins has also started emerging in some countries. Therefore, it has become imperative to initiate sustained national and international efforts to reduce infection and misuse of antibiotics so as to prevent further emergence and spread of antimicrobial resistance. It is necessary not only to monitor drug resistance and optimise treatment regimens, but also to gain insight into how gonococcus develops drug resistance. Knowledge of mechanism of resistance would help us to devise methods to prevent the occurrence of drug resistance against existing and new drugs. Such studies could also help in finding out new drug targets in N. gonorrhoeae and also a possibility of identification of new drugs for treating gonorrhoea.
  2,493 731 -
Vitamin B 12 deficiency & levels of metabolites in an apparently normal urban south Indian elderly population
Vineeta Shobha, Subhash D Tarey, Ramya G Singh, Priya Shetty, Uma S Unni, Krishnamachari Srinivasan, Anura V Kurpad
October 2011, 134(4):432-439
Background & objectives : There is no published literature on the extent of vitamin B 12 deficiency in elderly Indians as determined by plasma vitamin B 12 levels and methylmalonic acid (MMA) levels. Vitamin B 12 deficiency is expected to be higher in elderly Indians due to vegetarianism, varied socio-economic strata and high prevalence of Helicobacter pylori infection. We therefore, studied the dietary habits of south Indian urban elderly population and measured vitamin B 12 , MMA red cell folate and homocysteine (Hcy) levels. Methods: Healthy elderly urban subjects (175, >60 yr) were recruited. Detailed history, physical examination and neurological assessment were carried out. Food Frequency Questionnaire (FFQ) for dietary analysis for daily intake of calories, vitamin B 12 , folate and detailed psychological assessment for cognitive functions was carried out. Blood samples were analyzed for routine haematology and biochemistry, vitamin B 12 , red cell folate, MMA and Hcy. Results: The mean age of the study population was 66.3 yr. Median values for daily dietary intake of vitamin B 12 and folate were 2.4 and 349.2 μg/day respectively. Sixty two (35%) participants consumed multivitamin supplements. Plasma vitamin B 12 level and the dietary intake of vitamin B 12 was significantly correlated (P=0.157). Plasma vitamin B 12 and Hcy were inversely correlated (P= -0.509). Red cell folate was inversely correlated with Hcy (P= -0.550). Significant negative correlation was observed between plasma vitamin B 12 and MMA in the entire study population (P= -0.220). Subjects consuming vitamin supplements (n=62) had significantly higher plasma vitamin B 12 levels, lower MMA levels and lower Hcy levels. There was no significant correlation between plasma vitamin B 12 , MMA, Hcy and red cell folate and any of the 10 cognitive tests including Hindi Mental Status Examination (HMSE). Interpretation & conclusions : Our study is indicative of higher vitamin B 12 (2.4 μg/day) intakes in urban south Indian population. Thirty five per cent of the study population consumed multivitamin supplements and therefore, low plasma vitamin B 12 levels were seen only in 16 per cent of the study subjects. However, MMA was elevated in 55 per cent and Hcy in 13 per cent of the subjects.
  2,086 563 -
Prevalence & correlates of primary infertility among young women in Mysore, India
Paul C Adamson, Karl Krupp, Alexandra H Freeman, Jeffrey D Klausner, Arthur L Reingold, Purnima Madhivanan
October 2011, 134(4):440-446
Background & objectives : There are sparse data on the prevalence of primary infertility in India and almost none from Southern India. This study describes the correlates and prevalence of primary infertility among young women in Mysore, India. Methods: The baseline data were collected between November 2005 through March 2006, among 897 sexually active women, aged 15-30 yr, for a study investigating the relationship of bacterial vaginosis and acquisition of herpes simplex virus type-2 (HSV-2) infection. A secondary data analysis of the baseline data was undertaken. Primary infertility was defined as having been married for longer than two years, not using contraception and without a child. Logistic regression was used to examine factors associated with primary infertility. Results: The mean age of the women was 25.9 yr (range: 16-30 yr) and the prevalence of primary infertility was 12.6 per cent [95% Confidence Interval (CI): 10.5-15.0%]. The main factor associated with primary infertility was HSV-2 seropositivity (adjusted odds ratio: 3.41; CI: 1.86, 6.26). Interpretation & conclusions : The estimated prevalence of primary infertility among women in the study was within the range reported by the WHO and similar to other estimates from India. Further research is needed to examine the role of HSV-2 in primary infertility.
  1,868 439 -
The inherited disorders of haemoglobin: An increasingly neglected global health burden
David Weatherall
October 2011, 134(4):493-497
An estimated 300,000 babies are born each year with a severe inherited disease of haemoglobin and that over 80 per cent of these births occur in low- or middle-income countries. As these countries go through the epidemiological transition, characterized by a reduction in childhood and infant mortality due to improved public health measures, infants who had previously died of these conditions before they were recognised are now surviving to present for diagnosis and treatment. For a variety of reasons, even in the rich countries there are limited data about the true frequency, natural history, and survival of patients with these disorders, information that is absolutely critical towards providing governments and international health agencies with accurate information about the true global health burden of these conditions. The situation can only be improved by major action on the part of the rich countries together with the formation of partnerships between rich and poor countries and input from the major international health agencies and funding organisations.
  1,565 557 -
Vitamin B 12 deficiency & cognitive impairment in elderly population
Rachna Agarwal
October 2011, 134(4):410-412
  1,448 522 -
Endpoints in advanced breast cancer: Methodological aspects & clinical implications
Everardo D Saad
October 2011, 134(4):413-418
Breast cancer is an increasingly important public health problem in developing countries, with disproportionately high mortality. The increasing availability of active agents against advanced breast cancer makes the development of novel treatments and their choice in clinical practice progressively more complex. Furthermore, there is often a tension between the adequacy of endpoints used in clinical trials and the clinician's aim of improving survival and quality of life, the two most important therapeutic goals in advanced breast cancer. However, overall survival (OS) is no longer a suitable indicator of treatment efficacy within clinical trials in settings for which effective subsequent-line therapy exists. Conversely, progression-free survival (PFS) currently represents the most sensitive parameter to assess the efficacy of a new drug or combination in such settings. When coupled with a favourable toxicity profile and cost, the demonstration of an improved PFS may be enough evidence for the superiority of a treatment. Despite arguments favouring the use of PFS as a primary endpoint in clinical trials, clinicians who need to make sense of the available literature may be reluctant to use PFS as an indicator of clinical benefit when deciding among different therapeutic strategies for their patients. This choice is further complicated if one fails to distinguish between the use of an efficacy parameter as an indicator of therapeutic objective for individual patients and as a clinical trial endpoint. This brief review aims at helping clinicians in their daily need to interpret the literature and make informed treatment choices for patients with advanced breast cancer.
  1,445 491 -
Cardiovascular autonomic functions & cerebral autoregulation in patients with orthostatic hypotension
Ekta Khandelwal, Ashok Kumar Jaryal, KK Deepak
October 2011, 134(4):463-469
Background & objectives : Patients of orthostatic hypotension may or may not have symptoms of the cerebral hypoperfusion despite fall in the blood pressure. The present study was done to quantify autonomic functions and cerebral autoregulation in patients of orthostatic hypotension with or without symptoms. Methods: The study was conducted in 15 patients of orthostatic hypotension and 15 age, sex matched control subjects. The sympathetic reactivity was measured by diastolic blood pressure response to handgrip test (ΔDBP in HGT) and cold pressor test (ΔDBP in CPT). The parasympathetic reactivity was measured by E:I ratio during deep breathing test (DBT) and Valsalva ratio (VR) during Valsalva maneuver. The cerebral autoregulation was computed from the changes in the cerebral blood flow, cerebrovascular conductance and blood pressure measured during different time points during head-up tilt (HUT). Results: The sympathetic reactivity was lower in patients as compared to controls [ΔDBP in HGT: 10 (4 - 16) vs 18 (12 - 22) mmHg, P<0.01; ΔDBP in CPT : 10 (4-12) vs 16 (10-20) mmHg, P<0.01]. The parasympathetic reactivity was also lower in patients as compared to controls. The sympathetic and parasympathetic reactivity was comparable in the symptomatic and asymptomatic patients. The maximum fall in blood pressure during HUT was comparable between symptomatic and asymptomatic patients (29.14 ± 10.94 vs 29.50 ± 6.39 mmHg), however, the percentage fall in the cerebral blood flow was significantly higher in the symptomatic (P<0.05) compared to asymptomatics. Interpretation & conclusions: Patients with orthostatic hypotension had deficits in sympathetic and parasympathetic control of cardiovascular system. Cerebral autoregulation was present in asymptomatic patients (increase in cerebrovascular conductance) during HUT while it was lost in symptomatic patients.
  1,416 464 -
Haemoglobinopathies in Greece: Prevention programme over the past 35 years
Dimitris Loukopoulos
October 2011, 134(4):572-576
At present, prevention of thalassaemia and sickle cell disease is the only realistic approach to control the birth of new patients in countries having high numbers of carriers. This is fully justified because avoiding the birth of an ever increasing number of patients may allow a more effective use of the available resources in improving the management of the patients surviving today and alleviate the already overloaded public health system from the inevitable tremendous and ever increasing cost. Moreover, prenatal diagnosis may help couples at risk to have non-thalassaemic children. Greece is one of the countries where the mean frequency of carriers is approximately 7.5 per cent (population 11 million) and has set up a nationwide programme for carrier identification in the early seventies; this is provided through a dozen of specific Units attached to the major Blood Transfusion Services of the country, on a voluntary basis and free of charge. Spread of information through mass media, the schools, and other groups has greatly contributed in creating the necessary sensitization; obstetricians and antenatal Clinics are also instrumental to this effect. Prenatal diagnosis is offered centrally (Athens) and covers satisfactorily the estimated needs (500-600 annually); the total number has already exceeded 35,000. According to information obtained from the major paediatric hospitals all over the country, the number of thalassaemia major or SCD admitted for treatment over the last ten years has been around 15 yearly (instead of an estimate of 120-130).
  1,295 391 -
Prevalence of & knowledge, attitude & practices towards HIV & sexually transmitted infections (STIs) among female sex workers (FSWs) in Andhra Pradesh
R Hemalatha, R Hari Kumar, K Venkaiah, K Srinivasan, G.N.V. Brahmam
October 2011, 134(4):470-475
Background & objectives : As part of the baseline survey carried out during 2005-06, biological and behavioural data were generated on about 3200 female sex workers (FSWs), from eight districts of Andhra Pradesh (AP), India. This study describes the relationship between socio-demographic and behavioural factors with consistent condom use (CCU) and HIV among FSWs in AP. Methods: A cross-sectional community-based study was conducted among female sex workers (FSW) in eight districts of Andhra Pradesh, India, using conventional cluster sampling and time-location cluster sampling. Key risk behaviours and STIs related to the spread of HIV were assessed. Blood samples were collected to detect syphilis, Herpes simplex virus type 2 (HSV-2) Chlamydia trachomatis (CT), Neiserria gonorrhoeae (NG) and HIV serology. Results: About 70 per cent of the FSWs were illiterates, nearly 50 per cent were currently married and 41 per cent of the FSWs had sex work as the sole source of income. More than 95 per cent of the FSWs heard of HIV, but about 99 per cent believed that HIV/AIDS cannot be prevented. Logistic regression analysis showed significantly lesser CCU with high client volume, not carrying condom and could not use condom in past 1 month due to various reasons such as non co-operation by the clients. Similarly, CCU was significantly (P<0.001) lesser (only 8.9%) with regular non-commercial partners. Overall there was 16.3 per cent prevalence of HIV amongst FSWs. C. trachomatis and N. gonorrheae were prevalent in 3.4 and 2 per cent of the FSWs, respectively and about 70 per cent of the FSWs were positive for HSV2 serology. HIV was significantly associated with STIs. Interpretation & conclusions: Misconception that HIV/AIDS cannot be prevented is very high. Most of the subjects in the present study had first sexual debut at a very young age. HIV was associated with STIs, emphasizing aggressive STI diagnosis and treatment. CCU must be emphasized right from first sexual debut with all clients and non-commercial partners as well.
  1,254 430 -
Ethical issues in genetic counselling with special reference to haemoglobinopathies
Vasantha Muthuswamy
October 2011, 134(4):547-551
Genetic counselling is provided in places where genetic tests are carried out. The process involves pre-test counselling as well as post-test counselling to enable the individuals to face the situation and take appropriate decisions with the right frame of mind. Major ethical principles which govern the attitudes and actions of counsellors include: respect for patient autonomy, non-maleficence, beneficence, or taking action to help benefit others and prevent harm, both physical and mental, and justice, which requires that services be distributed fairly to those in need. Other moral issues include veracity, the duty to disclose information or to be truthful, and respect for patient confidentiality. Nondirective counselling, a hallmark of this profession, is in accordance with the principle of individual autonomy. High prevalence of haemoglobinopathies with availability of good and sensitive carrier detection tests and prenatal diagnostic techniques makes these good candidates for population screening of carriers along with genetic counselling for primary prevention of the disease. Screening of the extended family members of the affected child, high risk communities and general population screening including antenatal women are the main target groups for planning a Haemoglobinopathy control programme. A critical mass of trained genetic counsellors who have understanding of the ethical issues and its appropriate handling with the required sensitivity is needed in India.
  1,313 355 -
ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31)
Seema Thakur, Mala Ishrie, Renu Saxena, Sumita Danda, Rose Linda, Auro Viswabandya, IC Verma
October 2011, 134(4):483-486
ATR-X syndrome is an X-linked mental retardation syndrome characterized by mental retardation, alpha thalassaemia and distinct facial features which include microcephaly, frontal hair upsweep, epicanthic folds, small triangular nose, midface hypoplasia and carp-shaped mouth. Here we report two brothers with clinical features of ATR-X syndrome, in whom a novel missense (C>T) mutation was identified in exon 31 of the ATRX gene.
  1,390 268 -
A pilot study on the use of serum glyoxalase as a supplemental biomarker to predict malignant cases of the prostate in the PSA range of 4-20 ng/ml
Sushant V Chavan, Niraj R Chavan, Anusha Balaji, Vatsala D Trivedi, Padma R Chavan
October 2011, 134(4):458-462
Background & objectives : Serum prostate specific antigen (PSA) though most commonly used for diagnosis of prostate cancer lacks specificity. This study was aimed at exploring the use of serum glyoxalase as a supplemental biomarker to differentiate between malignant vs non-malignant diseases of the prostate in patients with PSA in the range of 4-20 ng/ml. Methods: Serum glyoxalase and PSA were measured in 92 men (30 control, 31 cases of benign prostate hyperplasia (BPH) and 31 cases of adenocarcinoma of prostate). Of the latter group, 11 cases of prostate cancer in the PSA range of 4-20 ng/ml were included for studying the diagnostic utility of combination of both serum PSA and glyoxalase. Results: In prostate cancer cases with PSA in the range of 4-20 ng/ml, the glyoxalase was found to be 233.3 ± 98.6 μmol/min while for the non-malignant group it was 103.1 ± 19.7 μmol/min. A cut-off of 19.2 ng/ml PSA showed sensitivity of 9 per cent, specificity of 96.7 per cent, positive predictive value (PPV) of 50 per cent and negative predictive value (NPV) of 75 per cent. A serum glyoxalase cut-off of 141 μmol/min showed sensitivity of 81.8 per cent, specificity of 100 per cent, PPV of 100 per cent and NPV of 93.9 per cent. Further, ROC analysis showed a significant difference in the area under curve (AUC) for glyoxalase as compared to serum PSA (0.92 vs 0.57; P<0.001). Interpretation & conclusions: Serum glyoxalase appears to be predictive of prostate cancer in the PSA range of 4-20 ng/ml. Studies with larger number of participants would be required to confirm this finding.
  1,181 230 -
Cytogenetic profile of Indian patients with de novo myelodysplastic syndromes
Rekha Chaubey, Sudha Sazawal, Rima Dada, Manoranjan Mahapatra, Renu Saxena
October 2011, 134(4):452-457
Background & objectives : Myelodysplastic syndrome (MDS) is a clonal haematopoietic stem cell disorder characterized by ineffective haematopoiesis and leukaemia progression. Cytogenetic analysis has proven to be a mandatory part of the diagnosis of MDS as well as a major indicator for predicting clinical course and outcome. Studies on cytogenetics of MDS are reported mostly from the West and only a few are available from Asian countries. We report herein cytogenetic studies on 40 Indian patients with primary MDS to find out the occurrence and type of chromosome abnormalities and recurring defects. Methods: Cytogenetic analysis was done using GTG banding and karyotyped according to the International System for Human Cytogenetic Nomenclature (ISCN). Results: Of the 40 patients, 19 patients (47.5%) showed clonal karyotypic abnormalities with distribution as follows: 3 of 15 (20%) of refractory anaemia (RA), 4 of 7 (57%) of refractory anaemia with excess blasts-1 (RAEB-1), 4 of 6 (67%) of refractory anaemia with excess blasts 2 (RAEB-2), 2 of 3 (67%) of refractory anaemia with ring sideroblasts (RARS), 2 of 4 (50%) of refractory cytopenia with multilineage dysplasia (RCMD), none (0%) RCMD-ringed sideroblasts (RCMD-RS) and 4 patients with 5q syndrome. The frequent abnormalities observed in our study were -7, 5q-and trisomy 8. Interpretation & conclusions: Two rare chromosomal abnormalities (6q-, 3q-) were found with unknown prognostic significance. Hence, cytogenetic analysis may be incorporated in the routine diagnosis of MDS since there are racial differences in clinical pictures and the molecular events.
  1,124 266 -
The Great Push for Mental Health: Why it matters for India
Vikram Patel, John Copeland
October 2011, 134(4):407-409
  1,029 353 -
Enhanced production of mosquitocidal cyclic lipopeptide from Bacillus subtilis subsp. subtilis
AM Manonmani, I Geetha, S Bhuvaneswari
October 2011, 134(4):476-482
Background & objectives : A cyclic lipopeptide, surfactin produced by a strain of Bacillus subtilis subsp. subtilis (VCRC B471) was found to exhibit activity against both the larval and pupal stages of mosquitoes. The present study was aimed at increasing the production of the mosquitocidal metabolite by modifying the conventional medium. Methods: Enhancement of mosquitocidal metabolite production was attempted by replacing the existing micronutrients of the conventional NYSM and supplementing the medium with additional amounts of glucose. The LC 50 value of culture supernatant (CS) against the larval and pupal stages of Anopheles stephensi was determined. Crude mosquitocidal metabolite (CMM) was separated from the CS, identified by MALDI-TOF analysis and its LC 50 dosage requirement for the pupal stage of the above mosquito species determined. Results: The medium containing a new composition of micronutrients and glucose up to 1 per cent resulted in increased metabolite production. The LC 50 value of the CS obtained in the improved medium against larvae and pupae of An. stephensi was 5.57 and 0.71 μl/ml, respectively. The yield of CMM was doubled in the improved medium. MALDI-TOF analysis revealed that the CMM was surfactin. Interpretation & conclusions: The new improved medium enhanced the production of mosquitocidal metabolite as the dosage required for inciting 50 per cent mortality among the pupal stages of mosquitoes was only half of that required when the metabolite was produced in the conventional medium. The mosquitocidal metabolite was identified as surfactin, a cyclic lipopeptide and biosurfactant.
  1,106 249 -
CTX-M15 type ESBL producing Salmonella from a paediatric patient in Chennai, India
K Karthikeyan, M Thirunarayan, Padma Krishnan
October 2011, 134(4):487-489
  950 290 -
Identifying potential pitfalls in interpreting mitochondrial DNA mutations of male infertility cases
Malliya Gounder Palanichamy, Ya-Ping Zhang
October 2011, 134(4):447-451
Background & objectives : Recently, a significantly higher ratio of nucleotide changes in the mtDNA genes: COII, ATPase 6, ATPase 8, ND2, ND3, ND4, and ND5 was reported in spermatozoa from populations of infertile Indian men, compared suggesting that screening for mtDNA mutations could provide insight into the aetiology of male infertility. In this study, we examined the published data and found serious errors in the original acquisition and analysis of the data. Methods: The mtDNA data associated with male infertility in Indian populations were retrieved from the published sources. The mtDNA substitution values of infertile and control groups were evaluated using phylogenetic methods and previously published mtDNA phylogenies. Results: Most of the mtDNA polymorphisms reported as significantly correlated with infertility were more commonly found in general populations. Further, our analysis showed that some of the mtDNA substitutions were erroneously overestimated in the infertile groups and underestimated in the control groups, and vice-versa. Interpretation & conclusions: Contrary to earlier claims, our analysis demonstrated no significant association between the mtDNA polymorphisms and male infertility in these studies. Further, these errors in the published data impune the usefulness of mitochondrial molecular analyses in male infertility diagnosis.
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October 2011, 134(4):577-577
  447 115 -