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Biomedical subjects

Renu Saxena

Publications and source records attributed to Renu Saxena.

At least 19 recordsLinked to original sources
PubMed2007

Bone marrow aplasia--a rare complication of imatinib therapy in CML patients.

Imatinib mesylate therapy in CML patients is a generally well tolerated without any significant hematological adverse drug effects. However, complications like anemia and cytopenias have been described in literature. A very few case reports of bone marrow aplasia following imatinib therapy have been reported so far. We here report five patients of CML who developed bone marrow aplasia following imatinib therapy.

Adolescent↗
PubMed2006

Roles of protein C, protein S, and antithrombin III in acute leukemia.

Protein C, protein S, and antithrombin III were measured in 35 patients with acute leukemia (13 with AML and 22 with ALL). Low levels of proteins C and S were present in 15 (42.9%) and 20 (57.1%) patients, respectively, and 6 patients had low levels of antithrombin (ATIII). Seven patients also had DIC at presentation. There were no significant differences in the levels of protein C, protein S, and ATIII in patients with or without DIC. Twenty patients were available for re-evaluation at the end of induction therapy. The low levels of protein C and ATIII found at diagnosis had risen to normal levels at the end of the induction therapy, while low =levels of protein S remained in 75% of the patients. One patient with low protein C at presentation developed myocardial infarction on day 15, and another patient died of progressive neuropathy. No other thrombotic manifestations were seen. Whether the low protein C, protein S, or antithrombin levels predispose patients with acute leukemia to thrombosis in the absence of DIC is not known.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed2006

Jaundice and alpha gene triplication in beta-thalassemia: association or causation?

There are few studies investigating alpha globin gene triplications in beta-thalassemia in Asian Indians and its effect on phenotype, which was the primary aim of this study. Gap-PCR was performed in order to detect common alpha thalassemia determinants (-alpha(3.7), -alpha(4.2) and alpha alpha alpha(anti 3.7) triplication). Alpha-triplication was detected in 15.4% (10/65) of patients with thalassemia intermedia, 8.8% (4/45) of those with thalassemia minor and in 2.7% (2/74) of healthy controls. The severity of jaundice was higher in thalassemia intermedia cases with alpha-triplication and two of the alpha-triplication cases had a marked increase in serum bilirubin following intercurrent illness. Thus, alpha globin gene triplication is important genetic determinant underlying thalassemia intermedia in North Indians. Patients with alpha-triplication may develop prominent jaundice with marked increase in serum bilirubin following antecedent aggravating factors.

Adolescent↗
PubMed2006

Role of MTHFR C677T polymorphism in ischemic stroke.

BACKGROUND: Homozygosity for MTHFR C677T polymorphism can lead to significantly high homocysteine levels and hyperhomocysteinemia is an important risk factor for thrombotic events. AIMS: The aim was to determine role of MTHFR C677T polymorphism in North Indians with ischemic stroke. SETTINGS AND DESIGN: In a prospective study, the subjects of stroke were recruited from the neurology clinic of the hospital. Controls were healthy individuals from the Hematology clinic without any history of stroke. MATERIALS AND METHODS: Plasma homocysteine levels were measured by enzyme immuno assay method after 3 months of acute episode. Serum folate and Vitamin B12 levels were estimated by competitive inhibition radioassay. MTHFR polymorphism was detected by PCR-RFLP using Hinf I enzyme. STATISTICAL ANALYSIS: The analysis of significance of results was done using SPSS software package. A p-value. RESULTS: Thirty-two acute ischemic stroke patients (aged 1-44 years) were studied. Fourteen (43.8%) had recurrent stroke. Nine (28%) had multiple infarcts. Four of 32 patients (12.5%) had high homocysteine levels. Three out of these 4 hyper-homocysteinemia patients were homozygous ( TT ) for MTHFR polymorphism (2 with recurrent stroke). Two of three homozygous cases with TT genotype had low serum folate. Five of 32 stroke cases (18.8%) were heterozygous ( CT ) genotype. CONCLUSIONS: Primary hyper-homocysteinemia appears to be an important risk factor for ischemic stroke in North Indians, most due to MTHFR C677T homozygosity. Folate levels may modify the presentation of the MTHFR TT genotype.

Adolescent↗
PubMed2006

Molecular characterization of thalassemia intermedia in Indians.

Thalassemia intermedia shows considerable heterogeneity. The purpose of this study was to evaluate the prevalence and effect of common molecular determinants in thalassemia intermedia. In 73 cases of thalassemia intermedia, the possible molecular basis was co-existent a-deletions (n=16/50), homozygous XmnI polymorphism (n=17/50), both factors (n=3/50), and milder beta-alleles (n=9/50) in homozygous beta-thalassemia (total 50 cases). In heterozygous beta-thalassemia, alphaalphaalphaanti-3.7 triplication was the predominant factor (14/23 cases).

Gene Deletion↗
PubMed2006

Spectrum of anemia in pregnant Indian women and importance of antenatal screening.

Anemia is a common health problem but control of anemia in pregnant women is less well studied. The purpose was to study prevalence of anemia in young pregnant women, correlate with indices and study significance of identification of hemoglobinopathies. Of the 120 pregnant women, Hb was less than 8 g% in 58 (44.2%). Seventy-eight (65%) had iron deficiency, 22 (18.3%) had dimorphic anemia, and 14 (11.6%) had hemolytic anemia. Megaloblastic anemia was present in 6 (5%). Of hemolytic anemia, 50% were thalassemia trait. MCV< 76 fl was observed in 88 (73.3 %) cases. MCV<76 fl and MCH < 27 pg had 100 % sensitivity and 28.7 % specificity for screening of beta-thalassemia trait. NESTROFT had comparable sensitivity but lower specificity (14.9%). Sixty-three percent (60/78) of IDA had increased RDW whereas 78 % (11/14) of hemolytic anemia had RDW value in normal range (p value< 0.05). MCV/RBC of <14 was more specific parameter (96.8%) for beta-thalassemia trait. Four high-risk couples were identified. Thus, moderate to severe anemia was observed in most pregnant women. Hemoglobinopathies should be screened in antenatal clinics to identify the couples that would need a prenatal test. A lower MCV/RBC with RDWin the normal range may be useful in screening for thalassemia trait in pregnant women.

Adult↗
PubMed2006

Coagulation factor V gene analysis in five Indian patients: identification of three novel small deletions.

Congenital factor V (FV) deficiency is a rare coagulopathy associated with moderate to severe bleeding symptoms. A total of 34 mutations, all located in the FV gene (F5), have been described in patients with severe FV deficiency, only eight of them being of Asian descent. Sequencing of F5 in five unrelated Indian patients identified three novel small deletions in exon 13, all present in the homozygous state (g.50936-50937delAA or AG and g.51660delA, both occurring in two different patients, and g.52162delC). Besides widening the knowledge on the mutational spectrum of FV deficiency in Asian populations, these data will also be useful for purposes of prenatal diagnosis.

Adolescent↗
PubMed2005

Over-representation of bcr3 subtype of PML/RARalpha fusion gene in APL in Indian patients.

Thirty six patients with acute promyelocytic leukemia were studied by reverse transcriptase-polymerase chain reaction (RT-PCR) and real-time PCR. There was concordance between the results achieved by both the methods except in one case, which was negative by RT-PCR but positive by real-time PCR. The prevalence of bcr3 (short isoform) was found to be significantly higher than that of bcr1 (long isoform) (64 vs. 36%, P=0.03). No correlation was found between age, sex, and white blood cell (WBC) count at diagnosis. Molecular remission was achieved in 66.6% of patients with bcr3 isoform. Median WBC count at presentation was found to be higher than that in the West.

Adolescent↗
PubMed2005

Use of Intron 1 and 22 inversions and linkage analysis in carrier detection of hemophilia A in Indians.

BACKGROUND: Hemophilia A is an X-linked recessively inherited bleeding disorder characterized by deficiency of procoagulant factor VIII (FVIII). METHODS: Sixty unrelated hemophilia A patients and their family members have undergone tests for carrier detection by linkage analysis using the polymorphic markers Bcl I, Xba I and Intron 13 or 22 VNTRs. In families of sporadic hemophiliacs, the carrier status of female subjects was ascertained by linkage analysis along with FVIII:C/VWD Ag estimation. RESULTS: Of the 33 families with positive family history, the defective X chromosome was tracked in 28 mothers. The carrier status of females from hemophilia A families with positive family history, ascertained by linkage analysis and Intron 22 and 1 inversion, was made out in 85% cases. FVIII:C/VWF Ag ratio was evaluated in 36 females from 9 sporadic hemophilic families. Using the FVIII:C/VWF Ag ratio along with linkage analysis, carrier status was determined in 9 (25%) of the 36 females studied. Using Intron 22 inversion along with linkage analysis and FVIII:C/VWF Ag estimation, the informativity in female subjects from families of sporadic hemophiliacs increased from 25% to 52%. CONCLUSION: In the West, linkage analysis with Bcl I, Xba I and Intron 13 or 22 VNTR markers and inversion 22 offers a good tool for carrier detection of hemophilia A in India.

Chromosome Inversion↗
PubMed2005

Hydroxyurea in thalassemia intermedia--a promising therapy.

Pharmacological agents such as hydroxyurea (HU) have been known to cause induction of fetal hemoglobin and possibly may alleviate the symptoms in thalassemia intermedia patients. Thirty-seven patients with beta-thalassemia intermedia were enrolled to assess response to HU therapy. Major response was defined as transfusion independence or hemoglobin rise of more than 20 g/l and minor response as rise in hemoglobin of 10-20 g/l or reduction in transfusion frequency by 50%. The median age was 10 years (range: 4-50 years) and median follow-up was 12 months (range: 4-36 months). Twenty-six patients (70.2%) showed response to HU therapy. Seventeen patients (45.9%) were major responders, and nine patients (24.3%) showed minor response. There was no correlation of response with beta-thalassemia mutation or XmnI polymorphism; however, the presence of alpha(3.7) deletion was associated with major response in three patients. Mean fetal hemoglobin (HbF) levels rose on HU therapy. Older age, low baseline F cell percent, and low baseline HbF levels (below 10%) were predictors of poor response. Response was evident within 1 month of starting HU therapy in the majority of responders. Thus, a short trial of HU therapy can predict durable response.

Administration, Oral↗
PubMed2005

Cyclosporin A in myelodysplastic syndrome: a preliminary report.

Therapeutic approaches are not well established in patients with myelodysplastic syndrome (MDS). We evaluated response to cyclosporin A (CyA) in 19 cases with MDS who were enrolled for the study [13 refractory anemia (RA), 5 refractory anemia with excess of blasts (RAEB), and 1 refractory anemia with ringed sideroblasts (RARS)]. Bone marrow was normocellular in ten, hypercellular in five, and hypocellular in four cases. Fifteen patients were transfusion dependent and the rest were not transfusion dependent but with a hemoglobin range of 6.4-8.8 g% with a mean of 7.4 g%. CyA was given at a dose of 3-5 mg/kg per day. A major response was observed in seven patients with RA, which was sustained on follow-up. Four cases of RA showed minor response and two cases of RA did not respond to CyA therapy. A minor response was also seen in one RAEB and one RARS case, while one RAEB case that initially showed a major response relapsed on therapy. The first effect of therapy was evident after a mean period of 2.5 months. A rise in platelets and leukocyte count was seen in three and two cases, respectively. One case developed renal failure on therapy and later died of septicemia. Response to CyA was independent of bone marrow cellularity. CyA could be an effective mode of therapy in patients with MDS especially those having RA.

Adult↗
PubMed2005

Establishment of tyrosinase sequence database in normally pigmented Indians and Japanese for rapid determination of novel mutations.

BACKGROUND: Many mutations of the tyrosinase gene have been reported in oculocutaneous albinism type I (OCA1) patient. In the future, a greater number of novel mutations will be found as the search for pathological mutations in the tyrosinase genes of OCA patients from various ethnic origins. For rapid determination in future whether an observed mutation is a polymorphism or a novel pathological one, sequence databases of the gene of various ethnic people are needed. OBJECTIVE: We established a sequence database of the tyrosinase gene of Japanese as well as Indian people. METHOD: We collected DNA from 109 Japanese and 103 Indians with normal pigmentation and analyzed their tyrosinase gene using a direct sequencing method. RESULT: The database shows an apparent difference between the two ethnic groups in polymorphisms of the tyrosinase gene namely, Q402 allele, Y192 allele and IV2+24 insT were found in the Indian population, but not in the Japanese. On the other hand, some Japanese had IV2-21 insT but none of the Indians did. The database supports the notion that the tyrosinase gene evolved and extended separately in the two ethnic groups. And the developing database confirmed that the reported mutations causing Indian and Japanese OCA were not among the polymorphisms in the database, which conversely gives genetical proof of the "genuine" pathological mutations. CONCLUSION: Eventually, the sequence database we established will contribute to demonstrating novel mutations of albinism in Indians and Japanese.

Albinism, Ocular↗
PubMed2005

Functional characterization of antibodies against heparin-platelet factor 4 complex in heparin-induced thrombocytopenia patients in Asian-Indians: relevance to inflammatory markers.

Occurrence of heparin-induced thrombocytopenia (HIT) was investigated for 33 Indian patients undergoing cardiovascular surgery who received unfractionated heparin (UFH). Platelet counts were performed prior to the initiation of UFH therapy and 5-16 days post therapy. Heparin-induced platelet aggregation, C-serotonin release assay, and enzyme-linked immmunosorbent assay (ELISA) tests were performed in all the patients to detect the antibodies formed against the complex of heparin and platelet factor 4 (HPF4). Levels of inflammatory markers/mediators such as CD40 ligand (CD40L) and C-reactive protein (CRP) were also measured in the patient plasmas utilizing ELISA tests. Based on clinical observations and laboratory diagnoses, five patients (15%) were considered to have confirmed HIT. Despite wide variations in the titers of inflammatory markers, patients who tested ELISA-positive for HPF4 antibodies showed markedly elevated levels of both soluble CD40L and C-reactive protein. Most strikingly, the C-serotonin release assay-positive patients showed up to a 10-fold increase in the level of CD40L. It is concluded that approximately 15% Asian-Indian patients receiving UFH during cardiovascular surgery develop functional HPF4 antibodies, which are associated with the increased levels of inflammatory markers/mediators in this catastrophic HIT syndrome.

Adolescent↗