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Biomedical subjects

R Saxena

Publications and source records attributed to R Saxena.

At least 37 records · Page 2Linked to original sources
PubMed2005

Clinicohematologic spectrum in patients with lupus anticoagulant.

A retrospective analysis of clinicohematologic parameters of 25 patients with lupus anticoagulant was carried out. The hematologic tests included dilute Russel viper venom test (dRVVT), kaolin clotting time (KCT), activated partial thromboplastin time, and prothrombin time. The diagnosis of lupus anticoagulants was based on the presence of prolonged KCT/dRVVT, its absence of correction with normal plasma and correction by phospholipids. Specific factor assays and platelet aggregation studies were performed wherever required. Ten patients (40%) had thrombosis, which was venous in 5 (50%) and arterial in 4 (40%). One patient (10%) had both arterial and venous thrombosis and presented with catastrophic antiphospholipid syndrome. Eighteen female patients conceived. Four (22%) of these had recurrent first trimester abortion. Five (20%) patients had bleeding manifestations. One (4%) of these had hypoprothrombinemia and was diagnosed to have hypoprothrombinemia lupus anticoagulant syndrome. However in two of these patients, no cause of bleeding could be identified other than the presence of lupus anticoagulants. It is concluded that patients with lupus anticoagulant have a varied spectrum of hemostatic disorders. Bleeding may sometimes occur in these patients due to associated thrombocytopenia or associated factor inhibitors. Rarely, it may occur due to presence of lupus anticoagulants alone.

Adolescent↗
PubMed2005

Clinico-hematologic profile of factor XIII-deficient patients.

A retrospective analysis of clinico-hematologic parameters of 18 factor XIII-deficient patients was carried out. The hematologic tests included activated partial thromboplastin time (APTT), prothrombin time (PT), and clot solubility. Laboratory diagnosis of FXIII deficiency was made where bleeding time, PT, APTT, and thrombin time were normal and the clot solubility test result with 5M urea was positive. Factor XIII level with family screening was performed using commercially available kits. History of prolonged bleeding from the umbilical stump was present in four (22.2%) patients. The most common site of bleeding was the skin (11 of 18 patients). Three patients were given prophylaxis (FFP in two, factor XIII in one). A high prevalence of recurrent abortion in female patients with FXIII deficiency (two of the three patients in this study) was observed.

Abortion, Habitual↗
PubMed2005

A comparison of the circadian rhythm of intraocular pressure in primary phronic angle closure glaucoma, primary open angle glaucoma and normal eyes.

PURPOSE: To evaluate the circadian rhythm of intraocular pressure (IOP) in primary chronic angle closure glaucoma (PCACG), primary open angle glaucoma (POAG), and normal eyes. METHODS: Cross-sectional study of newly diagnosed patients of POAG (60 eyes), PCACG following laser iridotomy (75 eyes), and age and sex matched normal controls (75 eyes). All subjects underwent applanation tonometry at 7 a.m., 10 a.m., 1 p.m., 4 p.m., 7 p.m., and 10 p.m. by a masked observer. Circadian rhythms were classified based upon the timing and presence of peak pressure. RESULTS: Age and gender in all three groups were comparable. Diurnal IOP fluctuations were significantly higher in PCACG (7.69+3.03 mmHg) and POAG (8.31+2.58 mmHg) groups compared to normal controls (4.83 + 2.46 mmHg). PCACG eyes and controls had similarly timed circadian rhythms, with PCACG eyes having a consistently higher IOP. At 7 and 10 a.m., IOP peaked more often in POAG eyes compared to PCACG eyes. A plateau type of circadian rhythm was most common in normal eyes. The timing of peak IOP could be significantly correlated with the type of primary glaucoma examined. CONCLUSION: Afternoon peaks were more common in postiridotomy PCACG eyes, similar to the rhythm in normal eyes. Morning peaks were more frequent in POAG eyes. Diurnal fluctuation > 6 mmHg, associated with an IOP of 21 mmHg or more was never seen in a normal eye.

Case-Control Studies↗
PubMed2005

Comparative evaluation of whole blood D-dimer test to plasma D-dimer test for diagnosis of disseminated intravascular coagulation.

Three rapid D-dimer test methods were compared for the diagnosis of acute disseminated intravascular coagulation (DIC). These were (a) SimpliRED, an autologous red cell agglutination assay. (b) DIMERTEST latex agglutination assay, containing monoclonal antibody DD-3B6/22(6), and (c) D-DI latex agglutination assay containing mouse anti-human D-dimer monoclonal antibodies. The D-DI latex method having higher sensitivity (100%) and specificity (81%) in clinically acute DIC was postulated as the gold standard and compared with the other two methods. The results suggest that D-DI latex agglutination assay containing mouse anti-human D-Dimer monoclonal antibodies are the better assay methods amongst all the three kits analyzed. It is advisable to look for the nature of the antibody used to coat the latex particles in plasma based kits. In emergency setting RBC kits may be of some use as rapid diagnosis is advantageous.

Disseminated Intravascular Coagulation↗
PubMed2005

Cord blood analysis for prenatal diagnosis of thalassemia major and hemophilia A.

Beta thalassemia and Hemophilia A are common genetic disorders for which prenatal diagnosis (PND) is an accepted option. Our aim was to evaluate cord blood analysis as a method for PND of these disorders. Cord blood samples at 18-26 weeks gestation from nine mothers with previous thalassemia major child and five families with previous hemophilia A were studied. In the former; HbF, HbA2 and HbF were determined by high performance liquid chromatography (HPLC) and in latter; Factor VIII and IX assays were done by one stage method. In HPLC studies for thalassemia, three out of nine fetuses were affected, five were carriers and one was normal. In hemophilia PND samples, 2 out of five fetuses were affected. Thus, HPLC and factor VIII assay in cord blood are feasible alternatives for PND in Beta thalassemia and hemophilia A respectively, especially when DNA analysis is uninformative or there are financial constraints.

Female↗
PubMed2004

Anticoagulants versus antiplatelet therapy for preventing stroke in patients with nonrheumatic atrial fibrillation and a history of stroke or transient ischemic attack.

BACKGROUND: People with nonrheumatic atrial fibrillation (NRAF) who have had a transient ischemic attack (TIA) or minor ischemic stroke are at risk of recurrent stroke. Both warfarin and aspirin have been shown to reduce the recurrence of vascular events. OBJECTIVES: The objective of this review was to compare the effect of anticoagulants with antiplatelet agents, for secondary prevention, in people with NRAF and previous cerebral ischemia. SEARCH STRATEGY: We searched the Cochrane Stroke Group trials register (last searched 9 June 2003) and contacted trialists. SELECTION CRITERIA: Randomised trials comparing oral anticoagulants with antiplatelet agents in patients with NRAF and a previous TIA or minor ischemic stroke. DATA COLLECTION AND ANALYSIS: Both reviewers extracted and analysed data. MAIN RESULTS: Two trial were identified. The European Atrial Fibrillation Trial (EAFT) involving 455 patients, who received either anticoagulants (International Normalised Ratio (INR) 2.5 to 4.0), or aspirin (300 mg/day). Patients joined the trial within three months of transient ischemic attack or minor stroke. The mean follow up was 2.3 years. In the Studio Italiano Fibrillazione Atriale (SIFA) trial, 916 patients with NRAF and a TIA or minor stroke within the previous 15 days were randomised to open label anticoagulants (INR 2.0 to 3.5) or indobufen (a reversible platelet cyclooxygenase inhibitor, 100 or 200 mg BID). The follow-up period was one year. The combined results show that anticoagulants were significantly more effective than antiplatelet therapy both for all vascular events (Peto odds ratio (Peto OR) 0.67, 95% confidence interval (CI) 0.50 to 0.91) and for recurrent stroke (Peto OR 0.49, 95% CI 0.33 to 0.72). Major extracranial bleeding complications occurred more often in patients on anticoagulants (Peto OR 5.16, 95% CI 2.08 to 12.83), but the absolute difference was small (2.8% per year versus 0.9% per year in EAFT and 0.9% per year versus 0% in SIFA). Warfarin did not cause a significant increase of intracranial bleeds. REVIEWERS' CONCLUSIONS: The evidence from two trials suggests that anticoagulant therapy is superior to antiplatelet therapy for the prevention of stroke in people with NRAF and recent non-disabling stroke or TIA. The risk of extracranial bleeding was higher with anticoagulant therapy than with antiplatelet therapy.

Anticoagulants↗
PubMed2004

Protein C system defects in Indian children with thrombosis.

As ethnic variations are known to exist in inherited genetic defects, the clinico-haematological profile of Indian children with thrombophilia may be different from that of Caucasians. The aim of the study was to analyse the phenotypic and genotypic causes of thrombophilia in Indian children. Forty patients with arterial (21 patients) and venous (19 patients) thrombosis were the subjects of the study. Their age ranged from 6 days to 15 years. All of the patients were initially screened by Pro C Global assay. Activated protein C resistance (APCR) was measured. In cases with low Pro C Global values, protein C (PC), protein S (PS) and factor V G1691A, prothrombin G20210A and MTHFR C677T polymorphism were tested in all 40 cases. Of the 21 patients with arterial thrombosis, 4 (19%) had PC deficiency, 7 (33.3%) had PS deficiency and 1 (4.8%) had combined deficiency of PC and PS. Of the 19 patients with venous thrombosis, 5 (26.3%) each had PC and PS deficiency and 4 (21%) had combined PC and PS deficiency. Heterozygous factor V G1691A defect was seen in one (4.8%) patient with arterial thrombosis and three (15.8%) patients with venous thrombosis. Heterozygous MTHFR C677T polymorphism was seen in five (23.8%) patients with arterial thrombosis and in four (21%) patients with venous thrombosis. Prothrombin G20210A polymorphism was absent in all patients and controls. Protein C system defect is common in Indian children with thrombosis.

Activated Protein C Resistance↗
PubMed2004

Carrier detection in severe von Willebrand's disease.

Von Willebrand's disease (vWD) is an inherited bleeding disorder, caused by a defect of von Willebrand's factor (vWF), a multimeric high molecular weight glycoprotein. It is sub-characterised into types 1, 2 and 3 vWD depending on quantitative or qualitative defect of vWF. Prenatal diagnosis and carrier detection are often sought by families affected by type 3 vWD. Five diagnosed index patients with severe type 3 vWD and their family members were the subjects of this study. Two markers (vWF 1 and vWF 2) were used in the polymorphic region of ATCT repeats (variable number of tandem repeat, VNTR) within intron 40 of the vWF gene. The study was done to determine the allelic frequency of these markers in normal Indians and to identify the carriers in type 3 vWD in India. In the five families studied by both markers (vWF 1 and vWF 2), Mendelian inheritance of the VNTR bands were demonstrated, and in all cases the band seen in offspring was present in the parents. Heterozygosity is seen in 78% of normal controls for vWF 1 marker and 80% for vWF 2 marker. Since the heterozygosity frequency of these two markers is high, 70% of carriers of vWD could be successfully detected by this method. It is thus concluded that VNTR gene tracking may be a useful approach for carrier detection in the type 3 vWD in developing countries.

Female↗
PubMed2004

Sickle beta-thalassemia presenting as orbital compression syndrome.

Orbital compression syndrome is caused by disorders of varying etiologies involving the orbit and presents with ocular and extraocular dysfunction. Ocular involvement of sickle cell disease is uncommon. A 17-year-old male presented with low backache and proptosis of both eyes of 5 days duration without past history of pain crisis or transfusion. Examination revealed pallor, icterus, bilateral proptosis, conjuctival chemosis, and symmetrical restriction of ocular movements with preserved visual acuity. He was drowsy with no other focal deficits. The fundus showed macular edema, venous engorgement, and no hemorrhage. His peripheral smear showed presence of sickle cells. Computed tomography (CT) scan of the orbit revealed orbital subperiosteal hematomas. CT head images showed epidural hematoma in the frontal lobe. High-performance liquid chromatography (HPLC) and mutation studies revealed sickle beta-thalassemia in the patient. He was managed with supportive care, transfusions to keep hemoglobin above 10 g/dl, and hydroxyurea. The patient recovered fully and remained well during follow-up of 12 months. Our case was unique for presenting as orbital compression syndrome without any history of vaso-occlusive crisis.

Adolescent↗
PubMed2004

Synchronous occurrence of breast carcinoma and acute myeloid leukemia: case report and review of the literature.

We present a case of breast carcinoma, which was followed by acute leukemia within 1 month of diagnosis of the former. She had undergone a modified radical mastectomy for her breast cancer and had not received chemotherapy or radiotherapy. Acute leukemia as a result of chemotherapy for breast carcinoma is well known. However, patients developing synchronous breast carcinoma and acute leukemia, in the absence of any chemotherapy or radiotherapy, are rare.

Acute Disease↗
PubMed2004

Anticoagulants for preventing stroke in patients with nonrheumatic atrial fibrillation and a history of stroke or transient ischaemic attack.

BACKGROUND: People with nonrheumatic atrial fibrillation (NRAF) who have had a transient ischaemic attack (TIA) or a minor ischaemic stroke are at high risk of recurrent stroke. OBJECTIVES: The objective of this review was to assess the effect of anticoagulants for secondary prevention, after a stroke or TIA, in patients with NRAF. SEARCH STRATEGY: We searched the Cochrane Stroke Group trials register (9 June 2003) and contacted trialists. SELECTION CRITERIA: Randomised trials comparing oral anticoagulants with control (no therapy) or placebo in people with NRAF and a previous TIA or minor ischaemic stroke. Control groups on aspirin did not meet the selection criteria. DATA COLLECTION AND ANALYSIS: Both reviewers assessed trial quality and extracted data. MAIN RESULTS: Two trials involving 485 people were included. Follow-up time was 1.7 years in one trial and 2.3 years in the other. Anticoagulants reduced the odds of recurrent stroke by two-thirds (odds ratio (OR) 0.36, 95% confidence interval (CI) 0.22 to 0.58). The odds of all vascular events was shown to be almost halved by treatment (OR 0.55, 95% CI 0.37 to 0.82). The odds of major extracranial haemorrhage was increased (OR 4.32, 95% CI 1.55 to 12.10). No intracranial bleeds were reported among people given anticoagulants. REVIEWERS' CONCLUSIONS: The evidence suggests that anticoagulants are beneficial, without serious adverse effects, for people with NRAF and recent cerebral ischaemia.

Anticoagulants↗
PubMed2004

Paucity of TEL-AML 1 translocation, by multiplex RT-PCR, in B-lineage acute lymphoblastic leukemia (ALL) in Indian patients.

A total of 69 patients of B lineage ALL, 35 children (32 males, 3 females) and 34 young adults (27 males, 7 females) were studied by multiplex RT-PCR to determine the relative frequency of t(9;22), t(12;21), t(1;19), and t(4;11,). Translocation (9;22) was seen in 1/35 (2.8%) and t(1;19) in 2/35 (5.7%) children. None of the children showed t(12;21) and t(4;11) translocations. In young adults, t(9;22) and t(1;19) were seen in 5/34 (14.7%) and 2/34 (5.8%) patients, respectively. None of the latter showed t(12;21) or t(4;11) translocations. Thus, there appears to be a significant under representation of the fusion transcripts for TEL-AML, a good prognostic marker, in this study, unlike in the West, where it is seen in 35% of children with ALL. This, together with the generally increased leukemic burden seen in Indian patients, may explain in part, the poor treatment outcome reported.

Adolescent↗
PubMed2004

High frequency of deletional alpha-thalassemia in beta-thalassemia trait: implications for genetic counseling.

Thalassemias are a group of genetic hemolytic disorders with varying phenotypes. In this study, the frequency of alpha globin gene deletions was studied in the beta-thalassemia trait, the mildest form of the disorder. Eleven out of 33 (33%) individuals were positive for alpha(-3.7 kb) deletions. None of the subjects was positive for the Southeast Asian deletion. Such a high frequency for alpha deletions has not been reported earlier in thalassemia minor. Hematological parameters are compared, and implications of this finding for genetic counseling are discussed.

Adolescent↗
PubMed2004

Revegetating fly ash landfills with Prosopis juliflora L.: impact of different amendments and Rhizobium inoculation.

A revegetation trial was conducted to evaluate the feasibility of growing a legume species, Prosopis juliflora L., on fly ash ameliorated with combination of various organic amendments, blue-green algal biofertilizer and Rhizobium inoculation. Significant enhancements in plant biomass, photosynthetic pigments, protein content and in vivo nitrate reductase activity were found in the plants grown on ameliorated fly ash in comparison to the plants growing in unamended fly ash or garden soil. Higher growth was obtained in fly ash amended with blue-green algae (BGA) than farmyard manure or press mud (PM), a waste from sugar-processing industry, due to the greater contribution of plant nutrients, supply of fixed nitrogen and increased availability of phosphorus. Nodulation was suppressed in different amendments of fly ash with soil in a concentration-duration-dependent manner, but not with other amendments. Plants accumulated higher amounts of Fe, Mn, Cu, Zn and Cr in various fly ash amendments than in garden soil. Further, inoculation of the plant with a fly ash tolerant Rhizobium strain conferred tolerance for the plant to grow under fly ash stress conditions with more translocation of metals to the above ground parts. The results showed the potential of P. juliflora to grow in plantations on fly ash landfills and to reduce the metal contents of fly ash by bioaccumulation in its tissues.

Carbon↗
PubMed2004

Clinico-haematological profile of HbE syndrome in adults and children.

Haemoglobin E beta thalassemia (HbE beta thalassemia) has a remarkable variability in clinical expression ranging from a mild form of thalassemia intermedia to a transfusion dependent condition. An overlap between the mild variety of HbE beta thalassemia and homozygous HbE disease is common, however, differentiation is required for early institution of therapy and for predicting the later clinical course. Fifty cases of Hb E syndrome comprising of 43 cases of Hb E beta thalassemia and 7 cases of homozygous HbE disease were studied. Their clinico- haematological features and results of high performance liquid chromatography (HPLC) were analysed.

Adult↗
PubMed2004

Seven novel mutations in the factor XIII A-subunit gene causing hereditary factor XIII deficiency in 10 unrelated families.

BACKGROUND: Hereditary factor (F)XIII deficiency is a rare bleeding disorder mostly due to mutations in FXIII A subunit. OBJECTIVES: We studied the molecular basis of FXIII deficiency in patients from 10 unrelated families originating from Israel, India and Tunisia. METHODS: Exons 2-15 of genomic DNA consisting of coding regions and intron/exon boundaries were amplified and sequenced. Structural analysis of the mutations was undertaken by computer modeling. RESULTS: Seven novel mutations were identified in the FXIIIA gene. The propositus from the Ethiopian-Jewish family was found to be a compound heterozygote for two novel mutations: a 10-bp deletion in exon 12 at nucleotides 1652-1661 (followed by 22 altered amino acids and termination codon) and Ala318Val mutation. The propositus of the Tunisian family was homozygous for C insertion after nucleotide 863 within a stretch of six cytosines of exon 7. This insertion results in generation of eight altered amino acids followed by a termination codon downstream. The propositus from Indian-Jewish origin was found to be homozygous for G to T substitution at IVS 11 [+1] resulting in skipping of exons 10 and 11. In addition to the Ala318Val mutation, three of the novel mutations identified are missense mutations: Arg260Leu, Thr398Asn and Gly210Arg each occurring in a homozygous state in an Israeli-Arab and two Indian families, respectively. CONCLUSIONS: Structure-function correlation analysis by computer modeling of the new missense mutations predicted that Gly210Arg will cause protein misfolding, Ala318Val and Thr398Asn will interfere with the catalytic process or protein stability, and Arg260Leu will impair dimerization.

Catalysis↗