Browsing by Author "Saxena, Renu"
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Item Acquired von Willebrand's disease associated with gastrointestinal angiodysplasia and monoclonal gammopathy.(2006-12-06) Mahapatra, M; Mishra, P; Makharia, G; Kumar, R; Saxena, RenuItem Acute T lymphoid and megakaryoblastic bi-lineal leukemia in a child.(2007-07-09) Srinivas, Upendra; Saxena, Renu; Bakhshi, SameerA 1 1/2-year-old boy presented with fever, anemia, petechial rash and hepatosplenomegaly. Bone marrow examination showed two morphologically distinct blasts (small and large) which were confirmed on immunophenotyping to be of T-lymphoid and megakaryocytic lineages respectively. Patient was refractory to therapy. This is a rare combination of bi-lineal leukemia in a child.Item AML1-ETO positive AML: first report from India.(2007-07-22) Dutta, Pankhi; Hasan, Syed K; Sazawal, Sudha; Kumar, Bijender; Bhattacharyya, Jina; Jain, Monica; Tyagi, Seema; Kumar, Rajat; Pati, H P; Saxena, RenuTranslocation (8;21) is associated with few typical morphological features and favorable prognosis. All patients of AML and MDS with increased blasts (N = 35) according to FAB criteria, presenting (between Jan 2004 to June 2005) to the Department of Hematology, AIIMS were studied. RT-PCR was done for the AML1-ETO fusion transcript in all cases. Overall incidence of AML1-ETO was 28.57% and no correlation was found between AML1-ETO positivity and clinical or hematological parameters except for a direct correlation with absolute blast count (ABC) (a lower ABC in the AML1-ETO positive cases). Interestingly, 1/3 MDS cases were positive for the same fusion transcript and thus, it appears worthwhile to look for AML1-ETO in all cases of MDS with increased blasts. Objective morphological evaluation using a scoring system based on morphological features was not helpful in predicting positivity for AML1-ETO. The effect of this translocation on long-term survival could not be determined by the present study.Item ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31).(2011-10) Thakur, Seema; Ishrie, Mala; Saxena, Renu; Danda, Sumita; Linda, Rose; Viswabandya, Auro; Verma, I CATR-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.Item Atypical immunophenotype of T-cell Acute Lymphoblastic Leukemia.(2014-10) Purohit, Abhishek; Aggarwal, Mukul; Pati, Hara P; Saxena, RenuItem Author's reply.(2010-09) Saxena, RenuItem Automated detection of malaria with haematology analyzer sysmex xe-2100.(2011-01) Mohapatra, Sarita; Samantaray, Jyotish C; Arulselvi, S; Panda, Jitender; Munot, Khushboo; Saxena, RenuBackground: Diagnosis of malaria is usually made by microscopy [Giemsa, Acridine Orange (AO), and Quantitative Buffy Coat (QBC) assay], which requires expertise. Currently, automated haematology analyzers are being used for complete blood count (CBC), in all acute febrile and non-febrile illnesses which simultaneously detects malaria. The normal scattergram by the analyzer (Sysmex 2100) comprises of five parameters i.e. lymphocytes (pink), monocytes (green), neutrophils (blue), eosinophils (red) with a space between the neutrophil and eosinophil populations. Aims : We carried out a prospective study to compare the efficacy of Sysmex XE-2100 (Sysmex Corporation, Kobe) for detection of malaria in comparison to other conventional techniques. Materials and Methods : 430 cases were analyzed for malaria by microscopy (QBC, AO, Giemsa), ICT (Immunochromatography) and flowcytometric analyzer (Sysmex XE-2100). The abnormal scattergrams were observed as double neutrophil, double eosinophil, grey zone, extended neutrophil zone with a decrease space between eosinophil and neutrophil, and a combination of above patterns. Results : Out of 70 positive cases [49/70 (70%) P. vivax, 18/70 (25.7%) P. falciparum, and 3/70 (4.2%) both P. vivax and P. falciparum], 52 showed abnormal scattergrams by the analyzer. The sensitivity and specificity of hematology analyzer found to be 74.2% and 88%, respectively. Conclusion : Flowcytometric analyzer is a rapid, high throughput device which needs less expertization for the diagnosis of malaria. Hence, it can be used in the diagnostic laboratories as an early modality for diagnosis of malaria in suspected as well as clinically in apparent cases.Item C1236T polymorphism in MDR1 gene correlates with therapeutic response to imatinib mesylate in Indian patients with chronic myeloid leukaemia.(2015-11) Chhikara, Unita; Sazawal, Sudha; Mishra, Pravas; Chaubey, Rekha; Mahapatra, Manoranjan; Saxena, RenuPatients with chronic myeloid leukaemia show an excellent response to treatment with imatinib. However, in some patients, the disease is resistant to imatinib. This resistance may be related to the presence of genetic variations on the drug’s pharmacokinetics and metabolism. We therefore studied three polymorphisms (C1236T, G2677T and C3435T) in the human multidrug-resistance gene (MDR1) in 86 patients with chronic myeloid leukaemia treated with imatinib. Imatinib resistance was more frequent in patients with TT genotype at locus 1236 than in those with CT/CC genotypes (p=0.003). For the other two loci (G2677T and C3435T), resistance was seen to be higher for TT genotype when compared to GG/GT and CT/CC but it was not statistically significant (p=0.13 and p=0.099). In conclusion, determination of C1236T MDR1 genotype may help to predict response to imatinib therapy in patients with chronic myeloid leukaemia. Natl Med J India 2015;28:272–5Item Clinical and Genetic Profile of Children With Short Stature Presenting to a Genetic Clinic in Northern India(Indian Academy of Pediatrics, 2022-06) Singh, Kanika; Puri, Ratna Dua; Bijarnia-Mahay, Sunita; Lall, Meena; Verma, Jyotsna; Saxena, Renu; Kohli, Sudha; Thomas, Divya; Saviour, Pushpa; Verma, ICObjective: To define the spectrum of genetic disorders in patients with short stature visiting the genetic out-patient department in a tertiary care hospital. Methods: A chart review was done for 455 individuals (10 months-16 yrs) with short stature, who were evaluated at the genetic clinic from 1 January, 2017 upto 31 October, 2018. 226 patients who needed detailed evaluation, the spectrum of genetic diagnosis is presented. Results: Proportionate short stature was identified in 63% individuals (n=142) of which 93 (65%) were recognizable syndromes such as Turner syndrome, and William syndrome, and RASopathies. In clinically undefined syndromes (39, 27%), a diagnosis could be made by karyotype (n=3/10), chromosomal microarray (6/12) and exome sequencing (1/6). In the 84 children in the disproportionate short stature group (37%), lysosomal storage disorders (LSDs) (45%, n=38) were identified by enzyme analysis in 86.8% and skeletal dysplasias (44%, n=37) identified by skeletal survey in 89% cases. Conclusions: In undefined syndromic short stature, chromosomal microarray may be the first investigation of choice if phenotyping is not suggestive of a specific genetic syndrome. Exome sequencing can be useful in identifying newer genes among idiopathic and familial short stature cohorts.Item Combined occurrence of von Willebrand's disease and factor XIII deficiency: a case report.(2003-04-17) Batra, Vineeta Vijay; Saxena, Renu; Sharma, Lalit Mohan; Kashyap, Rajesh; Chaudhry, Ved PrakashWe report the case of a three year old female child with combined occurrence of von Willebrand's disease and factor XIII deficiency, an extremely rare combination. The patient presented with prolonged bleeding following cuts and wounds. Clot solubility test using 5M urea was positive. Platelet aggregation using ristocetin was reduced, which corrected on adding normal plasma. Aggregation with other agonists was normal. We discuss the clinico- hematological profile of the case. Only one such case has been reported in literature in the past to the best of our knowledge.Item Comparison of HemoCue method with the cyanmethemoglobin method for estimation of hemoglobin.(2003-09-08) Saxena, Renu; Malik, RachnaItem Contribution of iron deficiency to anemia in chronic renal failure.(2003-10-18) Gupta, Meenal; Kannan, M; Gupta, Sanjay; Saxena, RenuPrevalence of iron deficiency in anemia of chronic renal failure (CRF) has long been the subject of interest, because the patients of CRF with coexistent iron deficiency anemia need to be treated with iron preparations before starting erythropoietin therapy. Prevalence of iron deficiency in CRF is higher in Indian patients as compared to the West. Diagnosis of iron deficiency in patients with CRF is difficult. Bone marrow iron which is considered to be the gold standard is a painful and invasive procedure. In the present study we used serum transferrin receptor and serum ferritin levels, since not much Indian data is available on this.Item Correlation of JAK2V617F mutational status in primary myelofibrosis with clinico-hematologic characteristics and international prognostic scoring system scoring: A single center experience.(2015-04) Singh, Neha; Sazawal, Sudha; Upadhyay, Ashish; Chhikara, Sunita; Mahapatra, Manoranjan; Saxena, RenuIntroduction: Somatic mutation in the exon 14 of Janus Kinase 2 gene is an established diagnostic marker in bcr-abl negative myeloproliferative neoplasms, especially primary idiopathic myelofi brosis (PIMF). Aim: Our primary aim was to fi nd out the correlation between the JAK2V617F mutational status and the clinico-hematologic characteristics, as well as the international prognostic scoring system (IPSS) scoring of patients with PIMF. Materials and Methods: Clinical and hematologic features were reviewed for 68 patients with primary idiopathic myelofi brosis (PIMF). JAK2V617F mutation status was analyzed by amplifi cation refractory mutation screening-polymerase chain reaction. The patients were further stratifi ed into low, intermediate-1, intermediate-2 and high-risk groups on the basis of IPSS scoring. Results: The JAK2V617F mutation was detected in 58.8% patients. Univariate analysis of variables at presentation identifi ed that JAK2V617F negative patients were signifi cantly associated with more severe anemia (P = 0.045), younger age (P = 0.008), higher transfusion requirement (P = 0.017), and thrombocytopenia (P = 0.015). Patients who were homozygous for JAK2V617F mutation were associated with thrombocytosis (P = 0.014) and also had higher median total leucocyte count (P = 0.20) than the other groups. No signifi cant correlation was detected between JAK2V617F mutational status and the presence of constitutional symptoms, spleen size, grade of bone marrow fi brosis or prognostic risk stratifi cation of the PIMF patients. Conclusion: The variations in the prognostic implication of PIMF patients with mutation status as stated by various publications worldwide, reinstates the need for larger prospective studies using standardized JAK2V617F quantifi cation methods as well as estimation of other newer molecular markers to develop deeper insight into various molecular alterations involving PIMF patients in India as well as worldwide.Item Cryptococcal neoformans profiles in peripheral blood neutrophils: an unusual presentation.(2008-04-08) Srinivas, Upendra; Kar, Rakhee; Saxena, Renu; Prasad, Pati HaraWe report an unusual observation of Cryptococcal neoformans profiles engulfed by neutrophils on a routine peripheral blood smear examination in an HIV-negative young female patient who presented with perforation of large bowel following a pregnancy termination procedure by an untrained midwife.Item Cytogenetic profile of Indian patients with de novo myelodysplastic syndromes.(2011-10) Chaubey, Rekha; Sazawal, Sudha; Dada, Rima; Mahapatra, Manoranjan; Saxena, RenuBackground & 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.Item Does acute promyelocytic leukemia in Indian patients have biology different from the West?(2008-07-30) Dutta, Pankhi; Sazawal, Sudha; Kumar, Rajat; Saxena, RenuAcute promyelocytic leukemia (APML) is a well-characterized malignancy with typical clinico-hematological and molecular features. However, Indian data on this malignancy are limited. This study was conducted to determine the clinico-hematological profile of APML in India. Thirty-five patients with APML presenting to Hematology Department, AIIMS, New Delhi, between July 2003 and June 2005 were evaluated for presenting clinical features, hemogram, peripheral smear, bone marrow morphology and cytochemistry. Reverse transcriptase PCR (RT-PCR) for PML-RARalpha was done in all cases. Male-to-female ratio was 0.9:1 (males--17 and females--18) with median age 25 years (range 11-57 years). Presenting features included anemia, bleeding, fever, gum hypertrophy and scrotal ulceration. All cases showed hypergranular abnormal promyelocytes. Median hemoglobin was 6.3 g/dL (range - 3.0-9.0 g/dL), total leukocyte count (TLC) was 33.88 x 10(9) /L (range - 1-170 x 10(9) /L). Platelet count was 28 x 10(9) /L (range - 4-170 x 10(9) /L). All cases were positive for myeloperoxidase and sudan black (SB), whereas 60% cases also showed non specific esterase (NSE) positivity with 40% cases being fluoride sensitive. RT-PCR showed PML-RARalpha in 33/35 cases with the bcr3 isoform being present in 24/33 positive cases (72.7%). The two cases negative for PML-RARalpha showed typical morphology and responded to ATRA. On statistical analysis, no correlation was found between bcr isoform and TLC, platelet count, age sex and early death. Unusual features included gum hypertrophy and scrotal ulceration at presentation and high median presenting TLC (33.8 x 10(9) /L). There was, however, no microgranular variant. Another interesting feature was a high incidence of NSE positivity (60%), which was fluoride sensitive in 40%. Moreover, the bcr3 isoform was significantly overexpressed (72.7%) in comparison to other studies. APML in India has certain unusual features, which may reflect a different biology.Item Effect of ANXA2 gene single nucleotide polymorphism (SNP) on the development of osteonecrosis in Indian sickle cell patient: A PCR-RFLP approach.(2012-07) Pandey, Sanjay; Ranjan, Ravi; Pandey, Sweta; Mishra, Rahasya Mani; Seth, Tulika; Saxena, RenuOsteonecrosis is a serious complication in sickle cell patients. The common sites of the necrosis are femoral head, head of the humerus and acetabulam. Annexin A2 (ANXA2) protein mainly functions in bone formation and bone resorption. Alteration of ANXA2 gene may affect the manifestations of osteonecrosis in the patients. PCR-RFLP is a common applicable technique for the detection of known mutation/polymorphisms. Here we are presenting application of the PCR-RFLP technique for determination of the ANXA2 gene single nucleotide polymorphism frequency and their clinical association among Indian sickle cell patients. Five known SNPs of ANXA2 gene (rs7170178, rs73435133, rs73418020, rs72746635 and rs73418025) were determined using the HpyCH4V, DdeI, HpyCH4III and Sau 961 restriction enzyme respectively. Restriction enzyme DdeI was common for rs73435133 and rs72746635 SNP. Only the rs7170178 SNP was detected among patient and control and the other four SNPs were absent in the studied groups. The frequency of ANXA2 gene rs7170178 SNP (A/G, G/G) was comparatively higher in sickle cell patients than controls and it was clinically associated with sickle cell osteonecrosis. The P value of heterozygotes (A/G) and homozygotes (G/G) genotypes were <0.001 and 0.001 respectively, which were highly significant. This study established the application of PCR-RFLP in detection of ANXA2 SNPs in sickle cell patients.Item Effect of wheat grass therapy on transfusion requirement in beta-thalassemia major.(2009-04-27) Choudhary, Dharma R; Naithani, Rahul; Panigrahi, Inusha; Kumar, Rajat; Mahapatra, Manoranjan; Pati, Hara Prasad; Saxena, Renu; Choudhry, Ved POBJECTIVE: To assess the efficacy of wheat grass juice on transfusion requirement in patients with beta thalassemia major. METHODS: Fifty-three patients of thalassemia major with a median age of 16 years were given wheat grass juice tablets. RESULTS: The Mean pre and post wheat grass therapy, the pack cell requirement was 288.06 +/- 53.25 gm/Kg/year and 301.25 +/- 54.86 gm/Kg/year (p =0.054) respectively. No adverse effects were noted. CONCLUSION: We conclude that wheat grass therapy for one year is not effective in reducing the transfusion requirement in transfusion dependent thalassemia.Item Erythrocyte indices in pregnancy: effect of intermittent iron supplementation.(2004-05-16) Mukhopadhyay, Asima; Bhatla, Neerja; Kriplani, Alka; Agarwal, Nutan; Saxena, RenuBACKGROUND: Erythrocyte indices change in pregnancy, mainly due to physiological haemodilution and iron-deficient erythropoiesis. The present study was undertaken to determine the haematological indices during different periods of gestation in women receiving daily iron supplements and compare them with those in women receiving weekly iron supplements. METHODS: Pregnant women < 20 weeks of gestation attending the antenatal clinic at the All India Institute of Medical Sciences were randomized to receive either 100 mg elemental iron daily or 200 mg elemental iron weekly. The haemoglobin, haematocrit, mean corpuscular volume, mean corpuscular haemoglobin and mean corpuscular haemoglobin concentration were estimated at baseline, after 1 month, 3 months and at 34 weeks of gestation. RESULTS: Changes consistent with physiological haemodilution in mid-term pregnancy were noted and the values at 34 weeks of gestation were not significantly different between the two groups. CONCLUSION: The effects of intermittent iron supplementation on the erythrocyte indices in pregnancy are comparable with those observed with daily supplementation.Item Erythroleukemia: a clinco-hematological review of four cases.(2004-06-06) Batra, Vineeta Vijay; Karan, Akhilesh S; Saxena, RenuErythroleukemia is an uncommon disorder in children. Four cases of pediatric erythroleukemia, diagnosed over a period of nine years are presented. The patients presented with pallor, fever and hepatosplenomegaly of recent onset. Peripheral smear examination showed anemia, thrombocytopenia and circulating blasts. The bone marrow displayed erythroid hyperplasia with dysplasia and PAS positive erythroblasts. Myeloid blasts were myeloperoxidase positive and one case showed positivity for non specific esterase, indicating monocytoid differentiation, a poor prognostic feature. Prognosis was poor and follow up period was short.
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