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Renu Saxena

Publications and source records attributed to Renu Saxena.

54 records · Page 3Linked to original sources
PubMed2003

Mutation reports: intron 1 and 22 inversions in Indian haemophilics.

Intron 1 and 22 inversions were looked for in 80 severe haemophilia A patients in India using PCR and multiplex Long-Distance Subcycling-PCR, respectively. Intron 1 inversion was seen in 3 (3.75%) and intron 22 inversion was seen in 35 (43.75%) patients. Of severe haemophilics, 47.5% had either of these inversions. It is thus suggested that screening for inversions may be the first step in genetic testing of Indian haemophilics.

Autoantibodies↗
PubMed2003

Type I Glanzmann thrombasthenia: most common subtypes in North Indians.

The expression of GPIIb/IIIa on the platelet surface was assessed in 10 patients with Glanzmann thrombasthenia and their families by flow cytometry to determine the common subtype in North Indians. Glanzmann thrombasthenia was diagnosed in patients with bleeding manifestations accompanied by absent/reduced platelet aggregation, secondary to ADP, ADR, arachidonic acid, and collagen. Flow cytometry revealed variable GPIIb/IIIa expression by CD61 and CD41 in patients with Glanzmann thrombasthenia on the basis of CD61 levels, six patients were subtyped as type I because they had absent GPIIb/IIIa, three patients were subtyped as type II because their GPIIb/IIIa levels varied from 7.72% to 20.40%, and one patient was diagnosed as type III, because his clot retraction was 60% and GPIIb/IIIa was 46.0% of normal. Four fathers, three mothers, and five siblings were found to have GPIIb/IIIa levels less than 35% of normal. It is possible that low GPIIb/IIIa levels in family members may reflect their carrier status. It is postulated that flow cytometric estimation of GPIIb/IIIa in parents/siblings may detect carrier status in Glanzmann thrombasthenia.

Adolescent↗
PubMed2003

Genetic counseling and prenatal diagnosis in India--experience at Sir Ganga Ram Hospital.

UNLABELLED: The experiences in genetic counseling and prenatal diagnosis at a tertiary genetic center in India are described. Of 3500 subjects provided genetic counseling 28.7% were for prenatal diagnosis, 13.7% for mental retardation +/- malformations, 11.5% for thalassemia, hemophilia and leukemia, 8.5% for neural tube defects and other malformations, and 8% for muscle dystrophy and spinal muscle atrophy. Chromosomal studies in blood (n = 5459) were for recurrent abortions (57.8%), delayed milestones (14.7%), malformations (11%), and infertility and amenorrhea (10.2%). Indications for amniotic fluid studies (n = 835) were advanced maternal age (35.7%), high risk result on triple test (21.3%), previous child with trisomy 21 (21.3%) and abnormalities seen on ultrasound (11.1%). Molecular studies were mostly for thalassemia (843, 24.3%), Duchenne muscular dystrophy (443, 12.5%), fragile X syndrome (367, 10.3%), spinal muscular atrophy (315, 8.9%), thrombophilia profile (233, 6.6%), triplet repeat disorders-spinocerebellar ataxias, Huntington disease and Friedreich ataxia-162 (4.6%), cystic fibrosis 140 (3.9%) and mitochondrial disorders 101 (2.9%). Other disorders for which molecular diagnosis was done were intrauterine infections by PCR on the amniotic fluid, Prader Willi/Angelman syndromes, hemophilia, achondroplasia, congenital adrenal hyperplasia, and Apert syndrome etc. In biochemical studies triple marker tests were the most common (3239), followed by aminoacid chromatography (774). Among neurolipidosis metachromatic leukodystrophy was the commonest, followed by Krabbe's disease, Tay Sach disease and Gaucher disease. Of the mucopolysacharidoses Hurler syndrome was the commonest, followed by Hunter syndrome. These data are compared with previous studies and a change towards increased prenatal diagnostic tests is observed. The commonest indication for amniocentesis has changed to advanced maternal age. CONCLUSION: Advanced molecular, cytogenetic and biochemical techniques have been a useful addition for genetic counseling and prenatal diagnosis in India.

Chromosome Aberrations↗
PubMed2003

Combined occurrence of von Willebrand's disease and factor XIII deficiency: a case report.

We 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.

Child, Preschool↗
PubMed2003

Red cell indices for distinguishing macrocytosis of aplastic anaemia and megaloblastic anaemia.

Megaloblastic anaemia and aplastic anaemia are important causes of pancytopenia in India. Since both may have presence of macrocytes, peripheral smear examination alone may pose a difficulty in distinction between the two in the absence of macro-ovalocytes and hypersegmented neutrophils. The present study was conducted to evaluate the role of red cell indices in differentiation between macrocytosis of aplastic anaemia and megaloblastic anaemia. Haemogram from 25 cases each of biopsy proven megaloblastic anaemia and aplastic anaemia were reviewed. It was observed that MCV was greater than 97 fl in 15 cases of aplastic anemia (mean MCV 109.7 fl), and 25 cases of megaloblastic anaemia (mean MCV 113.2 fl). Hb, MCV & MCHC were comparable in the two groups. However, mean RDW in megaloblastic anaemia (mean 87.7 fl) was significantly higher than those in aplastic anaemia (mean 71.4 fl). The difference in RDW of patients with megaloblastic anaemia and aplastic anaemia was statistically significant. We conclude that RDW can be of help to differentiate between the two conditions.

Adolescent↗
PubMed2003

Contribution of iron deficiency to anemia in chronic renal failure.

Prevalence 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.

Adult↗
PubMed2003

An unusual platelet function defect: report of 19 cases.

Selective impairment in platelet responsiveness to epinephrine has been seen in certain acquired conditions and very rarely as a hereditary disorder. To the best of our knowledge this hereditary defect has been described in a single family and in two other individuals. We describe here 19 cases of this defect. Subjects with history of generalized bleeding with a prolonged bleeding time, PF3 availability or prothrombin consumption index and a normal platelet count, prothrombin time, activated partial thromboplastin time, clot solubility were subjected to platelet aggregation. Those of these who showed a normal aggregation with ADP, collagen, arachidonic acid and an absent aggregation with epinephrine were included in our study group. Subjects with history or findings suggestive of antiplatelet drug intake or any acquired condition giving rise to this abnormality were excluded from this study. 74% of the patients had onset of bleeding manifestations since childhood (<14 years) with a mean age at onset of 10.4 years. All patients presented with mild bleeding manifestations, the commonest symptom being appearance of recurrent ecchymotic spots. In females, menorrhagia was the commonest symptom. We present here probably the first report of the occurrence of hereditary platelet aggregation defect selectively with epinephrine in Indian patients.

Adolescent↗
PubMed2003

Venous thrombosis: prevalence of prothrombotic defects in north Indian population.

431 patients with thrombosis of different venous system were evaluated for underlying acquired and inherited prothrombotic states. Associated acquired risk factors were observed to be present in 28.7% patients and possible inherited in 32.3%, in the rest, no cause could be identified. Major acquired risk factors included coexistence of liver disease (12.2%), oral contraceptives (4.1%), puerperium (2.5%), malignancy (2.3%) and lupus anticoagulant (2%). Low levels of protein C were detected in 21.1% and of which 11.3% were attributed to acquired factors. Protein S deficiency was found in 19.0% and of these 10.4% cases were associated with acquired risk factors. Antithrombin III (AT III) deficiency was detected in 6.4% of patients, of which 4.8% were secondary to acquired factors. In the rest, deficiency of protein C, protein S and AT III were attributed to inherited factors as no associated acquired risk factor was present. Activated protein C resistance (APC-R) was present in 12.5% cases.

Adolescent↗
PubMedDate not supplied

Functional outcome and patient satisfaction after ileal pouch anal anastomosis for ulcerative colitis in a developing country.

AIM: To study the long-term outcome and patient satisfaction of patients with an ileal pouch-anal anastomosis (IPAA) for ulcerative colitis in India. PATIENTS AND METHODS: We studied 35 patients who had undergone IPAA for ulcerative colitis between 1985 and 1998 and had intestinal continuity restored for more than 6 months. These patients were asked to answer a detailed questionnaire on their bowel function, urogenital function, etc. A complete haemogram, serum iron studies, liver function tests and D-Xylose absorption test were done. In addition hepatobiliary ultrasound, stool microscopy, pouchoscopy and pouch biopsies were also performed. Patient satisfaction after the procedure was also evaluated. RESULTS: Thirty-five patients (17 men and 18 women) underwent a complete evaluation. The duration after restoration of continuity ranged from 6 months to 164 months (mean 78.6 months). The mean stool frequency was 7.2 stools per 24 hours. Five patients had urgency of stool, 9 had occasional soiling and 1 had major incontinence. Four patients had minimal restriction of social activities and 1 discontinued his employment. All patients were sexually satisfied except one man who had impotence and one woman who had dyspareunia. Fifteen patients had abnormal serum iron studies (Haemoglobin < 9 g/dl in 11). Eleven patients had D-Xylose absorption below normal values. Two patients were found to have gallstones. All pouch biopsies showed chronic inflammation and 1 patient had histological evidence of pouchitis. Eighty-five percent of patients reported that they were very satisfied with the procedure. CONCLUSION: Good functional recovery and acceptance of the procedure over the long term suggests that it is a valid procedure to be recommended for patients with ulcerative colitis in India.

Adult↗
PubMedDate not supplied

Erythrocyte indices in pregnancy: effect of intermittent iron supplementation.

BACKGROUND: 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.

Adult↗