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D Mohanty

Publications and source records attributed to D Mohanty.

At least 19 recordsLinked to original sources
PubMed2001

Molecular pathogenesis and clinical variability of beta-thalassemia syndromes among Indians.

Sixty-four homozygous beta-thalassemia patients comprising 40 patients with beta-thalassemia major and 24 patients with beta-thalassemia intermedia were investigated for the nature of their beta-thalassemia mutations, associated alpha-thalassemia, and XmnI polymorphism in the gamma gene which are known to affect the clinical course of the disease. This study was undertaken to look for the contribution of these associated factors in reducing the clinical severity of homozygous beta-thalassemia from a severe disease to a beta-thalassemia intermedia phenotype. Clinical severity of these patients was assessed by the degree of transfusion dependency and the age at which the patient presented with symptoms. Globin chain synthetic ratio was taken as the biochemical pointer of severity of the disease. Eleven different beta-thalassemia mutations were encountered among 128 beta-thalassemia chromosomes. It was observed that the nature of the beta-thalassemia mutations was not very different between the beta-thalassemia major and beta-thalassemia intermedia groups in our patients, but co-inheritance of one or more alpha-globin gene deletions (-alpha(3.7)) and the presence of the XmnI polymorphism were associated with lesser severity of the disease in Indians.

Adolescent↗
PubMed2001

Combined factor VIII and IX deficiency in a family.

A family with combined deficiency of factor VIII and factor IX is reported. Family study showed that the father and his nephew had mild factor VIII deficiency with normal von Willebrand factor antigen and factor IX levels while his two sons had a reduced level of factor IX and normal factor VIII levels. His wife was found to have marginally reduced factor IX levels, whereas his daughter had reduced or normal levels of both factors VIII and IX. DNA analysis using the intra- and extragenic markers of factor VIII and IX genes showed that mother is a carrier of haemophilia B and the daughter is a carrier for both haemophilia A and B. Thus, the combined deficiency observed was due to a chance association of two distinct genetic defects.

Adult↗
PubMed2001

Milder clinical presentation of haemophilia A with severe deficiency of factor VIII as measured by one-stage assay.

During the course of investigations we encountered 11 patients with haemophilia A who had severe factor VIII deficiency as measured by one-stage assay but had surprisingly mild clinical presentation. Four of these patients had either a brother, nephew or maternal uncle with severe clinical manifestations. Two patients had low protein S levels, and one was heterozygous for the factor V Leiden mutation. One patient had a combined deficiency of protein C and antithrombin III. Four patients had a two-stage factor VIII assay value that was much higher than the one-stage assay value. Five patients were heterozygous for the MTHFR gene C677T polymorphism, of whom two patients were also deficient for protein S and one had two-stage factor assay values higher than the one-stage assay values. The patient who was both factor VIII deficient and heterozygous for factor V Leiden had mild clinical presentation as compared to his maternal uncle who was only factor-VIII deficient. The maternal cousin of the same patient was heterozygous for factor V Leiden and had suffered two thrombotic episodes. Thus, the present study advocates that the physiological inhibitors of blood coagulation also play an important role in cases of haemophilia A in the final outcome of haemostasis in vivo.

Adolescent↗
PubMed2001

Development of inhibitors in patients with haemophilia from India.

Four hundred and seven patients (352 haemophilia A and 55 haemophilia B) were investigated for the presence of factor VIII and IX inhibitors. Twenty-four out of 292 severe and two out of 36 moderate haemophilia A patients showed the presence of inhibitors. The mean age at development of inhibitors was 17.7 years (range 6-52 years). In 12 patients the inhibitors were detected due to suboptimal response to factor replacement therapy (symptomatic) and in the remaining 14 patients the inhibitors were detected during the routine screening of the patients' samples for inhibitors. They had, however, responded well to the usual doses of factor concentrates and there was no suspicion in these patients that they had developed an inhibitor (asymptomatic). There were two families in which the inhibitors were detected in more than one family member. The level of inhibitors in symptomatic patients ranged from 2.2 Bethesda units (BU) mL(-1) to 460.6 BU mL(-1), and in asymptomatic patients it ranged from 0.8 BU mL(-1) to 3.2 BU mL(-1). The inhibitors persisted in all patients except one, who developed an inhibitor postoperatively for a brief period of 3 months. All these patients were followed up from first factor exposure and were tested for inhibitors at least twice a year. The mean number of exposure days before they developed inhibitors was 47.5 exposure days (range 17-98 exposure days). No inhibitors appeared after more than 100 exposure days in any of the patients. When 50 consecutive patients were investigated for intron 22 inversions of the factor VIII gene, 17 patients were found to be positive for inversions (10 proximal inversion; seven distal inversion) out of whom four patients developed inhibitors, three patients belonging to the same family. Out of 35 haemophilia B patients, only one patient developed an inhibitor. The overall prevalence of inhibitors was thus 8.2%, which is similar to the reports from western countries, prior to the introduction of highly purified factor concentrate therapy.

Adolescent↗
PubMed2001

Ophthalmic surgery in haemophilia.

A wide range of ophthalmic surgical procedures were conducted in five patients with haemophilia of varying severity (one severe and four mild) aged between 8 and 75 years. The operations included intraocular lens implantation, trabeculectomy and vitrectomy. Successful postoperative outcome with haemostasis was achieved in all patients with moderate use of clotting factor concentrates (3000-7000 IU), simultaneous use of oral epsilon amino caproic acid therapy and intravenous deamino-8-D-arginine vasopressin (desmopressin; DDAVP) wherever feasible. None of the patients had circulating inhibitor. One of the patients with milder disease (FVIII 32%) was referred to us after he was operated on for hyphaema elsewhere, without prior knowledge of his diagnosis of haemophilia. Thus, satisfactory eye surgery in patients with haemophilia is possible with a restricted amount of factor concentrates with gratifying results.

Aged↗
PubMed2001

Haemorrhage in upper cervical cord: an unusual manifestation in moderate haemophilia patients who ride motorbikes.

A young asymptomatic patient, with moderate haemophilia due to factor IX deficiency, developed symptoms of upper cord compression caused by a haemorrhage 12 hours after riding a motorcycle on a poorly maintained road. This led to quadriparesis with respiratory paralysis. In spite of neurosurgical intervention and intensive management with respirator therapy, the patient died 13 days after the incident from pneumonia and multi-organ failure. This is a very rare presentation of moderate haemophilia with serious consequences and has not to our knowledge, previously been reported in the English literature.

Accidents, Traffic↗
PubMed2001

Hereditary thrombophilia as a cause of Budd-Chiari syndrome: a study from Western India.

The inherited deficiencies of protein C, protein S, antithrombin III, factor V Leiden mutation, prothrombin gene polymorphism, and antiphospholipids were studied in 53 Budd-Chiari syndrome (BCS) and 33 portal vein thrombosis (PVT) cases and compared with 223 age- and sex-matched controls. Protein C deficiency was detected in 7 (13.2%), protein S in 3 (5.7%), and antithrombin III in 2 (3.8%) of the BCS cases. Factor V Leiden was the most common risk factor, i.e., 14 of 53 (26.4%) in BCS cases followed by protein C, as compared with PVT cases, i.e., 2 of 33 (6.06%) and controls, i.e., 5 of 223 (2.3%). In PVT cases, protein C deficiency was present in 3 (9.09%), protein S deficiency in 1 (3.03%), and factor V Leiden mutation in 2 (6.06%) of the cases. The prothrombin gene polymorphism was not found in either the controls or the patients. The antiphospholipids were seen in 11 (20.75%) of the BCS cases and 6 (18.18%) of the PVT cases. Other acquired risk factors like pregnancy, surgery, and oral contraceptives were present in 8 (15.09%) of BCS and 3 (9.09%) of PVT cases. Thus overall, 59% of the BCS and 30% of the PVT cases could be explained by at least one of the etiologic factors studied.

Adolescent↗
PubMed2001

Changes in platelet glycoprotein receptors after smoking--a flow cytometric study.

Cigarette smoking is accepted to be one of the major factors which increase the risk of coronary artery disease, peripheral vascular disease and stroke. A number of studies have been carried out on the acute and chronic effects of tobacco smoking on platelet activation. An enhancing effect of high nicotine cigarette smoking on platelet aggregation has been reported. Since platelet receptors are involved in the final stage of platelet aggregation, the intention of this study was to investigate platelet receptors in acute and chronic smokers before and after smoking. Nineteen chronic smokers, 18 acute smokers and 18 healthy non-smoking controls were included in the present study. Platelet aggregation was carried out using ristocetin, adenosine diphosphate (ADP) and collagen both before and after smoking in acute and chronic smokers. Flow cytometric studies of platelets were carried out utilizing fluorescein isothiocyanate (FITC)-labelled anti-human fibrinogen antibody in unstimulated and ADP-stimulated platelets, FITC-labelled anti-GP IIb/IIa antibody, FITC-labelled anti-GP Ib/IX antibody and FITC-labelled P-selectin antibody. The intensity of fluorescence was graded into three groups and expressed in arbitrary units. The interesting data generated in the present work is that in vivo platelet activation occurs immediately after smoking a cigarette which is detected by using FITC-labelled anti-human fibrinogen antibody binding to platelet and by P-selectin expression. It is also quite evident from the present study that a significant number of circulating platelets are in the activated state in chronic smokers. Therefore this study suggests that smoking-induced platelet activation may be an important contributory mechanism for acute coronary events in smokers.

Adult↗
PubMed2001

Hemophilia B in a female.

Hemophilia B is rare in females and only a few cases have been reported. In this report, we describe a girl with a clinically severe course of hemophilia B but with a normal 46,XX karyotype. She had no signs of Turner's syndrome or any other dysmorphic features. She was demonstrated to have moderately decreased factor IX levels (factor IX:C, 1.5 units/dl; factor IX:Ag, 2.2 units/dl). Her father and paternal uncle were also found to be deficient in factor IX and her mother seemed to carry a factor IX gene mutation with intermediate factor IX:C and factor IX:Ag levels (factor IX:C, 46 units/dl; factor IX:Ag, 39 units/dl). The maternal grandmother also showed mildly decreased factor IX:C and factor IX:Ag levels (factor IX:C 41 units/dl; factor IX:Ag 32 units/dl), further confirming the mother's carrier status, which was indirectly confirmed by DNA segregation analysis using the polymorphic markers of the factor IX gene, as none of her other family members were found to be deficient in factor IX. However, the DdeI polymorphic marker of the factor IX gene for which the mother was informative showed the inheritance of a '369-bp' allele in the mother, which was different from the '319-bp' allele found in all of her 3 brothers who had normal levels of factor IX. Intermediate levels of factor IX in the mother and the maternal grandmother, severe deficiency of factor IX in the child and the polymorphic allele different from that of the normal subjects in the family are all consistent with a homozygous or double-heterozygous condition in this child.

Child↗
PubMed2001

Systemic capillary leak syndrome preceding plasma cell leukaemia.

We report a patient with plasma cell leukaemia with systemic capillary leak syndrome, a rare disorder often associated with monoclonal gammopathy. In this patient, the manifestation of capillary leak syndrome antedated the diagnosis of plasma cell leukaemia by 5-6 months. During that time, he was repeatedly admitted to the hospital with weight gain, congestive cardiac failure, cough and anasarca in the presence of normal renal function, liver function and normal echocardiography. On presentation, a serum protein electrophoresis showed monoclonal IgG; the blood smear showed 60% plasma cells with a total count of 4.4 x 10(9)/l. A bone marrow aspirate showed replacement of the normal marrow by sheets of immature plasma cells. His systemic capillary leak syndrome initially responded to decongestive therapy with terbutaline and aminophylline but later on he became refractory to them and responded to vincristine, doxorubicin and dexamethasone (VAD) combination therapy only transiently. Danocrine and pentoxifylline, added during VAD chemotherapy, did not produce a durable response in capillary leak syndrome, which finally responded to autologous peripheral blood stem cell transplantation (PBSCT). After PBSCT, he remained free of capillary leak for 10 months without terbutaline, pentoxifylline corticosteroids, aminophylline or danocrine. His disease relapsed without recurrence of the capillary leak. He died 15 months after PBSCT and 20 months after the diagnosis of plasma cell leukaemia.

Adult↗
PubMed2001

Venous thromboembolism in young patients from western India: a study.

The goal of this article is to study the association of known markers of thrombophilia with venous thrombosis in young patients (< 45 years) from the Western part of India. A prospective study of 432 patients (252 males and 180 females, age 1-45 years) was conducted between 1994 and 2000 (6 years). The diagnosis was confirmed in all the patients by ultrasound with Doppler or by a computed tomograph (CT) scan of the brain with or without contrast depending on the case. Detailed clinical examination, and family history was taken to establish recurrent thrombosis and familial occurrence of thrombosis. The markers studied were protein C, protein S, antithrombin (AT) III, factor V Leiden mutation, prothrombin gene G20210A polymorphism, and the thermolabile MTHFR variant C677T polymorphism, using appropriate techniques. Lupus inhibitor was tested in the first 72 patients using Dilute Russel Viper Venom Time (DRVVT) test, and anticardiolipin antibodies were tested by enzyme-linked immunosorbent assay. Protein C, protein S, and AT III deficiency was detected in 9.5%, 6.5%, and 2.6%, respectively, among the patients. Anticardiolipin antibody was present in 9.9% of the patients, whereas lupus anticoagulant was present in 8.3% of patients; factor V Leiden mutation was detected in 3% of patients; thermolabile variant of MTHFR C677T polymorphism was present in 14.9% of patients with 1.2% homozygotes. Prothrombin G20210A polymorphism was not detected in any sample in this population. One hundred and four patients of 432 (24.9%) had recurrent attacks of thrombosis without any proximate precipitating cause, whereas 7.5 % of the patients had another close member of the family with a history of deep venous thrombosis. Eighty-six members from 28 families (out of 32 families giving family history of thrombosis) were investigated and found to have protein C and protein S deficiency in seven each; factor V Leiden was present in 6, and MTHFR C677T polymorphism was present in 5 cases. Hence, 25 of 86 members (28%) from the family of patients with familial history deep venous thrombosis had positive markers for thrombophilia. Thus, we could show that in young patients presenting with thrombosis, at least 34% of them had a demonstrable cause for thrombophilia. Prothrombin gene polymorphism G20210A seems to be nonexistent in our population and AT III deficiency also appears to be low compared to other markers of thrombophilia. There is a high prevalence of variant MTHFR C677T in our series, but the incidence of MTHFR C677T in our general population is also high. Hence, the significance of this finding in our cases of deep venous thrombosis remains to be seen, but we did not see any homozygotes when we tested 70 randomly selected asymptomatic persons, whereas in the present series, 1.8% of the patients had homozygosity for the MTHFR C677T polymorphism.

Adolescent↗
PubMed2001

Red cell genetic abnormalities, beta-globin gene haplotypes, and APOB polymorphism in the Great Andamanese, a primitive Negrito tribe of Andaman and Nicobar Islands, India.

The Great Andamanese are a primitive Negrito tribe of the Andaman and Nicobar Islands, India, with a total population of 37. We studied 29 individuals from eight families from this population for abnormal hemoglobins, G6PD deficiency, DNA haplotypes, and apolipoprotein B (APOB, gene) polymorphism. Hb E was detected in five individuals, the prevalence of Hb E heterozygotes being 14.3%. One individual had beta-thalassemia trait. One female was G6PD deficient and showed the G6PD Orissa mutation. Haplotype analysis of the beta-globin gene cluster showed that the betaE chromosomes were linked to two haplotypes (- - - - - + + and + + - + + + +) representing the framework 1 gene, whereas the betaA chromosomes showed eight different haplotypic patterns corresponding to framework 1 and 3 genes. APOB polymorphism analysis showed that the 631-base-pair (bp) allele was the predominant one with a high homozygosity rate, which could be due to the higher rate of inbreeding in this isolated group. The presence of Hb E and our findings on haplotype analysis supports the hypothesis that the Great Andamanese are reasonably believed to be the surviving representatives of the Negrito race that once flourished in the entire Southeast Asian region in ancient times.

Adolescent↗
PubMed2001

False-positive serological tests in acute malaria.

A range of serological tests, including rapid plasma reagin (RPR), Widal test, enzyme-linked immunosorbent assay (ELISA) for human immunodeficiency virus (HIV)-1 and -2, direct Coombs' test (DCT), and rheumatoid factor (RF) were performed in a well-characterised cohort of 100 patients with acute malaria (Plasmodium vivax infection: 31 patients; P. falciparum infection: 69 patients). Twenty-five healthy volunteers from a similar area were used as controls. Three patients from the severe P. falciparum group died, the remainder of the patients recovered completely. A large proportion of these patients showed false-positive serological reactions during the acute stage of infection, which became negative on re-testing, four weeks after recovery. In tropical countries such as India, where malaria is endemic, results of serological tests should be interpreted with caution in a patient with pyrexia of unknown origin (PUO).

AIDS Serodiagnosis↗