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Biomedical subjects

Kanjaksha Ghosh

Publications and source records attributed to Kanjaksha Ghosh.

At least 37 records · Page 2Linked to original sources

Prenatal diagnosis in a family at risk for beta-thalassemia and hemophilia A: an uncommon association.

beta-Thalassemia (thal) is an autosomal recessive disorder with a prevalence of 2-3% in Indians, while hemophilia A is X-linked with a prevalence of 1 in 5,000-10,000 male births. The chances of both these disorders being present together is extremely rare (1 in 250,000). We report an interesting consanguineous family from Western India with a combination of these two disorders, which was referred to us for prenatal diagnosis.

Family↗

Immune-mediated thrombocytopenia following dactinomycin therapy in a child with alveolar rhabdomyosarcoma: the unresolved issues.

The authors report a case of severe dactinomycin-induced thrombocytopenia in a child with alveolar rhabdomyosarcoma. The phenomenon is consistent with an immune process leading to the formation of platelet-specific antibodies. This study shows that this can be induced even with the first dose of actinomycin, and its persistence is unpredictably prolonged and does not correlate linearly in an inverted fashion with the platelet count. It will be important to identify the subsets of patients who can develop this phenomenon by molecular techniques and to define the exact mechanism in vitro leading to formation of these antibodies. This would facilitate profiling the therapy, preventing the need for multiple platelet transfusions with their obvious hazards.

Autoantibodies↗

Spectrum of anti-neutrophil cytoplasmic antibodies in patients with pulmonary tuberculosis overlaps with that of Wegener's granulomatosis.

BACKGROUND AND OBJECTIVES: Mycobacterial infections are known to induce the development of autoantibodies and a few of these antibodies are also known to be diagnostic markers for some other diseases and it is uncertain whether these autoantibodies play a role in the pathogenesis of autoimmune disorders. This study was undertaken to determine the prevalence of autoantibodies like anti-neutrophil cytoplasmic antibodies (ANCA), anti-nuclear antibodies (ANA), anti-double stranded antibodies (anti-dsDNA) and anti-histone antibodies (AHA)in pulmonary Tuberculosis. MATERIALS & METHODS: Seventy consecutive pulmonary TB patients, 30 patients of interstitial lung disease and 100 normal individuals were studied. ANCA and ANA were detected by indirect immunofluorescence test (IIF). Anti-dsDNA and AHA were tested by ELISA. RESULTS: ANCA was detected in 30% cases, and of these 52.4% showed perinuclear pattern (p-ANCA), 38.1% cytoplasmic (c-ANCA) and 9.5% showed an "atypical" pattern. ANCA specificities by ELISA revealed that, 47.6% had anti-Myeloperoxidase (anti-MPO), 28.6% had anti-Proteinase3 (anti-PR3) and 19.1% had anti-Lactoferrin (anti-LF) antibodies. ANA and AHA were present in 24.3% and 21.4% cases respectively whereas anti-ds DNA antibodies were absent. Normal controls showed 4% and 2% positivity for ANA and ANCA whereas disease control group of ILD showed 7% of ANA and ANCA posititivy. CONCLUSION: The presence of autoantibodies in TB patients could have a multifactorial etiology. Clinically relevant is the presence of anti-PR3 antibodies. This finding along with pulmonary and renal manifestations could lead to a false diagnosis of Wegener's granulomatosis or vice versa because these autoantibodies may be present in both diseases.

Adult↗

Combination of thrombophilia markers in acute myocardial infarction of the young.

BACKGROUND: The pathogenesis of arterial thrombotic disease involves multiple genetic and environmental factors related to atherosclerosis and thrombosis. But, there have been very few studies in India which have investigated some of the thrombophilia markers. AIM: To look for combined thrombophilia in MI patients. SETTINGS AND DESIGN: One hundred twenty patients of myocardial infarction (age below 40 yrs.) were recruited 8-10 weeks after stabilization. Hundred age and sex-matched healthy controls were also recruited in the present study. METHODS AND MATERIAL: Following thrombophilia markers were screened in these patients--plasma fibrinogen, protein C, protein S, antithrombin III, factor V Leiden, PT G20210A polymorphism, MTHFR C677T, homocysteine, fibrinogen b448 Arg/Lys polymorphism and CBS T833C mutation. STATISTICAL ANALYSIS: Statistical analysis was done using Statistical Package for Social Sciences (SPSS) version 10.0, SPSS Inc., Chicago, USA. RESULTS AND CONCLUSION: Elevated fibrinogen levels, homocysteine (p< 0.001 and homocysteine with odds ratio 6.26) and factor V Leiden (p=0.038) were independently associated with MI in our patients. A total of 37 patients (42.5%) had the presence of more than one thrombophilia markers in combination. Out of these, 10 had the presence of three markers in combination and 1 had five thrombophilia markers in combination. Only 2 controls had prothrombotic markers in combination. Combined prothrombotic risk factors were significant in cases in comparison to controls (p< 0.001). Further larger studies on a nationwide basis recruiting a large number of young MI patients should be done to substantiate these findings.

Adult↗

Chronic synovitis and HLA B27 in patients with severe haemophilia.

Chronic synovitis affects about 10% of patients with severe haemophilia in India. This disease has some features in common with ankylosing spondylitis, which has been linked to HLA B27. We therefore aimed to test whether there is an association between HLA B27 and chronic synovitis. We studied 473 patients with severe haemophilia (33 of whom had chronic synovitis), and 1175 healthy controls using a standard serological technique and the reverse line strip assay. 64% (21 of 33) of patients with haemophilia and chronic synovitis were positive for HLA B27, compared with 5% (23 of 440) of those with severe haemophilia, but not chronic synovitis (odds ratio 31.6 [95% CI 9.28-39.38], p<0.0001), and 9% (100 of 1175) of healthy controls (18.81 [9.6-27.7], p<0.0001). We conclude that there is a strong association between HLA B27 and chronic synovitis in Indian patients with severe haemophilia and screening in this population could allow treatment and prevention of the complication.

Adolescent↗

HLA A*02 allele frequencies and B haplotype associations in Western Indians.

The population of Western India is described as Australoid or Proto-Australoid elements with admixture from Caucasian, Mongoloid, and Aryan races. We investigated the frequencies of human leukocyte antigen (HLA) A*02 alleles and their B* allele haplotype associations among 664 healthy unrelated Western Indians. Fifty-one of 204 serologically typed A2 individuals were analyzed for 56 molecular A*02 subtypes using high resolution polymerase chain reaction-reverse line strip-sequence-specific oligonucleotide hybridization (PCR-RLS-SSOP). A total of seven different A*02 alleles were identified, A*02011 (16%), A*0203 (16%), A*0205 (2%), A*0206 (2%), A*0211 (52.9%), A*0222 (4%), and A*0236 (8%). The most common HLA B allele associated with A*02 was B*40. Among the 42 subtypes HLA B*4006 (37.22%) was the most frequent subtype. HLA A*0211 was highly frequent in this population, A*0206 and A*0203 are common alleles observed among Asian populations, whereas A*0205 occurs in Caucasians and Africans and A*0222 has been observed among Hispanics. A*0236 has been observed among the western Indians exclusively. Most of the HLA A*02 subtypes observed were associated with B*4006 haplotype, although A*0236 was with B*0702 or B*1302 among the western Indians. The prevalence of A*0211 at high frequencies, A*0222, A*0236 novel alleles along with A*02 related haplotypes, demonstrate a substantial heterogeneity, which may be a consequence of founder effect, racial admixture, or selection pressure due to environmental factors.

Ethnicity↗

Haematuria and urolithiasis in patients with haemophilia.

Recurrent haematuria was present in 18 of 474 moderate and severe haemophiliacs, the cause of which was found to be urolithiasis in six patients (33%). The prevalence of urolithiasis in haemophiliacs was found to be significantly higher than that reported from the general population, i.e. 4.5 of 10 000 population under 40 yr of age (odds ratio (OR) 23.4; 95% CI 18.2-28.7; lambda2 test P < 0.01). Even when this prevalence was corrected for gender bias, i.e. male : female (5 : 1), the significance of the present findings remain (OR 17.6; 95% CI 13.8-21.5; lambda2 test P < 0.01). In developing countries, severe and moderately severe haemophiliacs may be at a higher risk of urolithiasis because of prolonged recumbency necessitated by recurrent joint bleeds and inadequate replacement therapy.

Adolescent↗