Identification of the Novel MICA*002:01:30 Allele in a Haematopoietic Stem Cell Donor From India.
MICA*002:01:30 differs from MICA*002:01:03 by a transition of C > T at position 3678 in intron 1.
Biomedical subjects
Publications and source records attributed to Pankaj Malhotra.
MICA*002:01:30 differs from MICA*002:01:03 by a transition of C > T at position 3678 in intron 1.
The novel KIR3DL1*0080105, KIR3DL1*0150224, and KIR2DL4*060 is identified in healthy individuals from the Indian population.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
BACKGROUND AND OBJECTIVES: A large number of patients diagnosed with bone marrow failure syndromes (BMFS), comprising aplastic anaemia (AA) and myelodysplastic syndromes (MDS), remain aetiologically uncharacterized worldover, especially in resource constrained set up. We carried out this study to identify a few constitutional causes in BMFS patients attending a tertiary care hospital in north India. METHODS: Peripheral blood lymphocyte cultures were performed (with and without clastogens) in a cohort of 135 consecutive BMFS patients, in order to detect Fanconi anaemia (FA), Down's syndrome (+21), trisomy 8 (+8) and monosomy 7 (-7). RESULTS: Constitutional factors were detected in 17 (12.6%) patients. FA defect was observed in 24.07 percent (13/54), 16.66 percent (1/6) and 2.85 percent (1/35) paediatric aplastic anaemia, paediatric MDS and adult MDS patients respectively. Down's syndrome was detected in 5.00 percent (2/40) adult aplastic anaemia patients. None of the patients revealed trisomy 8 or monosomy 7. INTERPRETATION AND CONCLUSION: Presence of an underlying factor determines appropriate management, prognostication, family screening and genetic counselling of BMFS patients. Special tests required to confirm or exclude constitutional aetiological factors are not available to majority of the patients in our country. Diepoxybutane (DEB) test yielded better results than mitomycin C (MMC) test in our experience.
Explore the source record for details and available documents.
Aplastic anemia is characterized by pancytopenia with hypoplastic bone marrow. Various factors including viral infections have been implicated as the precipitating factors. Human parvovirus B19 has been associated with red-cell aplasia, leukopenia, and thrombocytopenia. The present study was carried out to determine the role of parvovirus B19 in aplastic anemia patients. Twenty-seven aplastic anemia patients and 20 healthy controls were tested for the presence of parvovirus B19 infection by detecting parvovirus B19-specific IgM by ELISA and viral DNA by PCR. Parvovirus B19 IgM and viral DNA were detected in significantly higher numbers of patients in comparison to the controls (40.7% vs. 5%, P < 0.01; 37% vs. 0%, P < 0.001, respectively). The presence of parvovirus DNA in aplastic anemia patients indicates active or recent infection. However, more studies are needed to explore the mechanism of bone-marrow aplasia due to human parvovirus B19 infection.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Hairy-cell leukemia-variant (HCL-V) is a rare B-cell disorder which accountsfor 10% of HCL cases. The main features are splenomegaly, lymphocytosis and cytopenias without monocytopenia. The circulating cells have a morphology intermediate between prolymphocytes and hairy cells. The immunophenotype shows a mature B-cell phenotype with expression of B-cell antigens CD11c and CD103 but unlike typical hairy cell the cells are negative for CD25. The histology of bone marrow and spleen shows a pattern of infiltration similar to that in HCL. We present a case of HCL-V in a 66-year-old male. The bone marrow findings, immunophenotypic profile and electron microscopic features are described. The patient underwent splenectomy which also revealed infiltration by leukemia. Patients are resistant to alkylating agents and alpha-interferon (á-IFN). Splenectomy may be beneficial for long-lasting partial responses in some of the patients and is a good palliative treatment.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Extreme thrombocytosis is a frequent feature in myeloproliferative disorders which can predispose a person to thrombotic complications. As opposed to other myeloproliferative disorders, symptomatic thrombocytosis is rare in chronic myeloid leukemia. We describe a second case report of chronic myeloid leukemia (Ph chromosome positive) in a patient in chronic phase on hydroxyurea who presented with sudden onset digital cyanosis of the left hand, giddiness, headache and malaise due to extreme thrombocytosis. A 67% global reduction in the platelet count from 1553 x 10(9)/L to 513 x 10(9)/L after two therapeutic plateletpheresis procedures was seen. There was simultaneous improvement in all symptoms except cyanosis on the tip of the middle finger that progressed to dry gangrene. Dramatic reduction in the platelet count and ablation of symptoms by therapeutic plateletpheresis is an effective therapy and should begin as soon as possible.
OBJECTIVE: To perform a quantitative analysis of DNA ploidy, S-phase fraction % (SPF%), p53 and multidrug resistance (MDR) gene expression as independent prognostic parameters and to compare these parameters with stage of the disease in multiple myeloma (MM) patients. STUDY DESIGN: Peripheral blood bone marrow samples were analyzed for DNA ploidy and SPF% using a FACScan flow cytometer (Becton Dickinson). Detection of p53 and MDR gene expression was done using immunocytochemistry. RESULTS: Aneuploidy was found in 5/48 (10.42%) total myeloma patients, all of whom revealed hyperdiploidy. High SPF% was noted in 18/37 (48.65%) newly diagnosed MM patients and 5/11 (45.45%) follow-up cases of myeloma. p53 Gene product was noted in 8/48 (16.66%) myeloma patients, 6 newly diagnosed and 2 on follow-up. MDR gene expression was detected in 4/27 (10.81%) newly diagnosed patients and in 1/11 (9.09%)follow-up patients. CONCLUSION: All myeloma patients with aneuploidy revealed hyperdiploidy. The majority of cases with high SPF% were at advanced stages, indicating the prognostic significance of SPF%. Although, there was no statistical significance of DNA ploidy, SPF%, p53 and MDR gene product expression, they are important prognostic parameters. Our results can provide baseline data for comparison with future studies since these parameters have not been reported earlier from the Indian subcontinent.
Explore the source record for details and available documents.
Histoplasmosis is not reported very commonly from India. We report a patient in whom the presenting feature was persistent leucopenia and hepatosplenomegaly and was treated as a case of disseminated tuberculosis. At autopsy, this patient showed all features of progressive disseminated histoplasmosis.
Explore the source record for details and available documents.