Objective: To investigate the haemostatic/oxidative changes and its association in patients of acute leukemia at the time of diagnosis. Study Design: Cross sectional and descriptive. Setting: Study was carried out in National Institute of... more
Objective: To investigate the haemostatic/oxidative changes and its association in patients of acute leukemia at the time of diagnosis. Study Design: Cross sectional and descriptive. Setting: Study was carried out in National Institute of Blood Disease and Bone Marrow Transplantation during 2011 to 2013. Material and Methods: Activity of Superoxide dismutase(SOD), Glutathione Reductase(GR), Total antioxidant status(TAS), Prothrombin Time, Activated Partial Thromboplastine Time, Fibrinogen, Factor VIII and Tissue Factor were evaluated in the hemolysate, sera, citrated plasma and leukemic cells of 150 patients with acute leukemia at the time of diagnosis in 40 healthy individuals. Results: The mean age of patients was 29.8 years.Activity of SOD, GR and TAS were significantly higher in patients of acute leukemia as compared to control (<0.01). Significant haemostatic changes were identified in patients of acute leukemia. Strong association was found between oxidative stress/total an...
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Objectives: To determine the effectiveness and feasibility of transabdominal chorionic villi sample (CVS) procedure for prenatal diagnosis of β-thalassaemia in a Muslim majority community. Methodology: Between January 2005 and December... more
Objectives: To determine the effectiveness and feasibility of transabdominal chorionic villi sample (CVS) procedure for prenatal diagnosis of β-thalassaemia in a Muslim majority community. Methodology: Between January 2005 and December 2011, we analysed 798 high-risk mothers with 12-16 weeks of pregnancy for β-thalassaemia using CVS, performed with a transabdominal route under local anesthesia and ultrasound guidance. The chorionic villi extracted were investigated upon using genomic amplification of β-globin gene by polymerase chain reaction (PCR). Results: A total of 798 of which 224(28%) fetus were diagnosed as major, 400(50.1%) as minor, 173(21.6%) as healthy fetus and 1(0.12%) fetus had undetected mutation. Procedure related complications were seen in 20 cases (2.4%) and missed abortion occurred in 6/798. Seven (3%) couples had refused to abort β-thalassaemia major fetus where as 97% fetus was aborted as per recommendations. Conclusion: Ultrasound guided transabdominal CVS is a...
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Introduction A clear picture of the prevalence of Fanconi anemia is not known due to limited studies and research of the subject. This study will detect the frequency of positive chromosomal breakage in pediatric aplastic patients and... more
Introduction A clear picture of the prevalence of Fanconi anemia is not known due to limited studies and research of the subject. This study will detect the frequency of positive chromosomal breakage in pediatric aplastic patients and provide the evidence-based guidelines which help in consideration of appropriate treatment and awareness to the society. Methods A total of 104 aplastic anemia patients were recruited of age <18 years whose samples were tested for chromosomal breakage with mitomycin C (MMC). History of consanguinity between parents were documented for all the patients referred to us. Result Out of 104 diagnosed aplastic anemia patients, 35 (33.7%) patients were found to be Fanconi positive. Mean age of all hypoplastic patients for aplastic anemia and Fanconi anemia was 10.7 ± 4.5 and 10.6 ± 3.5, respectively. Male preponderance was found to be higher (64, 61.5%) as compared to females (40, 38.5%) in aplastic patients. The male to female ratio was observed as 2.5:1 i...
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The objective of this study was to determine the prevalence of ABO and Rh phenotypes in the general Pakistan population. This information could be used to help reduce the rate of alloimmunization in patients with blood disorders, such as... more
The objective of this study was to determine the prevalence of ABO and Rh phenotypes in the general Pakistan population. This information could be used to help reduce the rate of alloimmunization in patients with blood disorders, such as thalassemia major, who require frequent blood transfusions. A total of 242 patients with blood disorders requiring frequent blood transfusions were enrolled in the study. ABO and Rh typing was performed on samples from these patients using tube and gel methods. Of these 242 patients, 146 (60.4%) were male and 96 (39.6%) were female. The prevalence of ABO and D phenotypes was as follows: group O, D+ (38.8%), group O, D– (2.5%), group B, D+ (32.2%), group A, D+ (17.4%), group A, D– (1.7%), and group AB, D+ (7.4%). Of the 242 patients, 232 (95.8%) were D+ and 10 (4.2%) were D–. The most prevalent Rh antigen was found to be e (97%), followed by D (95%), C (89.6%), c (62.8%), and lastly, E (22.6%). The prevalence of Rh phenotypes was: R1R1 (37.7%), R1r (...
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3199 Introduction: Packed red blood cell (PRC) transfusion with iron chelation, despite their undesirable effects, has been the mainstay of treatment for patients with beta-thalassaemia major. In the recent past introduction of oral... more
3199 Introduction: Packed red blood cell (PRC) transfusion with iron chelation, despite their undesirable effects, has been the mainstay of treatment for patients with beta-thalassaemia major. In the recent past introduction of oral medications that augment Hemoglobin F (HbF) has opened new horizons in the management…
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Research Interests: Thalassemia and Medicine
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β-Thalassemia is a genetic disorder caused by defects in the β-globin gene resulting in the absence or reduced synthesis of adult hemoglobin (HbA). Hydroxyurea is an effective drug to increase fetal γ-globin (HbF) expression, replacing... more
β-Thalassemia is a genetic disorder caused by defects in the β-globin gene resulting in the absence or reduced synthesis of adult hemoglobin (HbA). Hydroxyurea is an effective drug to increase fetal γ-globin (HbF) expression, replacing the missing adult β-globin. The mechanism of HbF induction by hydroxyurea and improvement in clinical symptoms are still poorly understood. In the present study we performed comparative analysis of plasma proteome in pre- and post-hydroxyurea-treated β-thalassemia major transfusion-dependent children (n = 10, mean age = 3.2 years) as well as responders versus nonresponders to hydroxyurea treatment. Plasma was collected before and after 6 months of hydroxyurea treatment, with patients subcategorized on the basis of their response to hydroxyurea. Among 400 identified proteins using a label-free quantitative proteomics approach, 28 proteins were found to be significantly different in pre- versus post-hydroxyurea-treated groups, with transferrin receptor ...
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Differentiation between thalassemia major and thalassemia intermedia at presentation is not uniformly characterized, for which an absolute criteria needs to be developed. This study investigated the primary and secondary genetic modifiers... more
Differentiation between thalassemia major and thalassemia intermedia at presentation is not uniformly characterized, for which an absolute criteria needs to be developed. This study investigated the primary and secondary genetic modifiers to develop a laboratory finding by forming different genetic mutational combinations seen among thalassemia intermedia patients and comparing them with thalassemia major. This cross-sectional study analyzed 315 thalassemia intermedia patients. One hundred and five thalassemia major patients were recruited on the basis of documented evidence of diagnosis and were receiving blood transfusion therapy regularly. Various mutational combinations were identified, and comparison was performed between thalassemia intermedia and major using statistical software STATA 11.1. The mean age of the total population was 5.9 ± 5.32 years of which 165 (52%) were males. Of the two groups (thalassemia intermedia and thalassemia major), IVSI-5, IVSI-1, and Fr 8-9 were m...
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Reactivation of hepatitis B virus (HBV) and hepatitis C virus (HCV) and febrile neutropenia (FN) are common in diffuse large B-cell lymphoma (DLBCL) patients undergoing cyclophosphamide, hydroxyrubicin, Oncovin, and prednisolone (CHOP) or... more
Reactivation of hepatitis B virus (HBV) and hepatitis C virus (HCV) and febrile neutropenia (FN) are common in diffuse large B-cell lymphoma (DLBCL) patients undergoing cyclophosphamide, hydroxyrubicin, Oncovin, and prednisolone (CHOP) or cyclophosphamide, hydroxyrubicin, Oncovin, prednisolone - rituximab containing (R-CHOP) chemotherapy. This ultimately leads to delaying the therapy, increasing hospital stay, and raising the pharmacoeconomic burden on patients. The aim of this study was to determine the incidence of HBV and HCV infection and febrile neutropenia in DLBCL patients treated with R-CHOP and CHOP. This was an institutional approved study in which patient records from a private hospital, specialized in hematology and oncology (Karachi, Pakistan), were reviewed retrospectively from 2014 to 2016. Patients aged above 18 years with known diagnosis of DLBCL who underwent CHOP-21 or R-CHOP-21 chemotherapy regimen were included. Baseline blood chemistry and liver function tests ...
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Acute biochemical changes, hepatotoxicity, nephrotoxicity and frequency of infections are common in diffuse large B-cell Lymphoma patients undergoing Cyclophosphamide, hydroxyrubicin, Oncovin (Vincristine) Prednisolone (CHOP) and... more
Acute biochemical changes, hepatotoxicity, nephrotoxicity and frequency of infections are common in diffuse large B-cell Lymphoma patients undergoing Cyclophosphamide, hydroxyrubicin, Oncovin (Vincristine) Prednisolone (CHOP) and Rituximab plus CHOP chemo cycles. Eventually, it leads to prolong hospital stay and suspending the next chemotherapy cycles. Changes in biochemical profile and immunosuppressant effects correlated with dose intensity ratio, the findings of this study will be helpful in choices for the physician to discontinue therapy or delaying treatment. This study was conducted to determine the changes in biochemical disturbances and the incidence of infections such as (Cytomegalovirus, Herpes Simplex Virus and Vericella Zoster virus), bacterial infections, tuberculosis induced by CHOP and R-CHOP. Baseline readings of metabolic profile were taken and treated as control readings of 31 patients. Post-treatment readings of aforesaid parameters were taken after 20 days and t...
Research Interests: Gastroenterology, Complementary and Alternative Medicine, Kidney diseases, Medicine, Prospective studies, and 15 moreHumans, Internal Medicine, Female, Male, Incidence, Clinical Sciences, Aged, Middle Aged, Doxorubicin, Adult, Bacterial infections, Cyclophosphamide, Diffuse large B cell lymphoma, Prednisone, and Pharmacology and pharmaceutical sciences
Alpha (α) thalassemia is a hereditary disorder and is caused by deletions or mutations in globin genes. It is present in two clinically significant forms: hemoglobin Bart hydrops fetalis (Hb Bart) syndrome and hemoglobin H (HbH) disease.... more
Alpha (α) thalassemia is a hereditary disorder and is caused by deletions or mutations in globin genes. It is present in two clinically significant forms: hemoglobin Bart hydrops fetalis (Hb Bart) syndrome and hemoglobin H (HbH) disease. It is highly prevalent in South-East Asia or Mediterranean countries. The most common deletion reported in alpha thalassemia in Pakistani population was -α(3.7) with a frequency of 8.3%, and the rare forms were -α(4.2) (0.2%) and ααα(anti3.7) (0.9%). In our study, diagnosis of severe anemia cases without any α and β mutations or deletions were made by using extended alpha thalassemia deletions panel. The main objective of this study was to determine the prevalence and to study the spectra of alpha thalassemia gene deletions in beta thalassemia patients with the use of an extended panel including --(SEA), --(FIL), --(MED), --(20.5), --(THAI) in addition to -α(3.7), -α(4.2) & -ααα(anti3.7). The samples were collected in ethylenediaminetetraacetic acid...
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Beta (β) thalassemia is the most common hereditary disorder characterized by reduced production of β-globin chains of Hemoglobin A (HbA). In recent years, hydroxyurea (HU) has shown promising therapeutic benefits in patients with... more
Beta (β) thalassemia is the most common hereditary disorder characterized by reduced production of β-globin chains of Hemoglobin A (HbA). In recent years, hydroxyurea (HU) has shown promising therapeutic benefits in patients with β-thalassemia by fetal hemoglobin augmentation. We have analyzed effects of hydroxyurea treatment on oxidative stress in β- thalassemia patients by assessing activities of paraoxonase (PON) and arylesterase along with malondialdehyde (MDA) and total reactive oxygen species (ROS) levels. Blood samples from 159 individuals including 56 HU treated, 58 untreated β-thalassemia patients and 45 healthy controls were analyzed. PON activity was found to be highest in healthy individuals (177.76±4.44 U/ml) as compared to treated (52.67±3.65 U/ml) and untreated (55.11±3.26 U/ml) patients. Similar trend was observed in case of arylesterase activity in normal, β-thalassemia treated and untreated (210.0±11.25 U/ml, 163.03±9.04 U/ml, 139.77±10.10 U/ml) subjects. Serum MDA concentrations (2.59±0.09 nMol/ml, 2.45±0.08 nMol/ml and 1.15±0.05 nMol/ml) and total ROS levels (3.73±0.20 nMol/ml, 3.54±0.23 nMol/ml and 2.45±0.14 nMol/ml) were significantly elevated in both groups (untreated and treated) as compared to healthy individuals (p&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt;0.01). Oxidative stress was found to be markedly elevated in β-thalassemia patients as compared to healthy controls. Insignificant differences were, however, observed in mean levels of PON1 paraoxonase and arylesterase activities, serum MDA concentration and total ROS levels between HU treated and untreated patients. We propose that HU therapy alone seems to be ineffective in managing oxidative stress and is likely to offer better clinical outcome when supplemented with efficient iron chelation therapy and antioxidants. This article is protected by copyright. All rights reserved.
Research Interests: Endocrinology, Biomarkers, Thalassemia, Clinical Pharmacology, Oxidative Stress, and 15 moreMedicine, Antioxidants, Humans, Child, Internal Medicine, Reactive Oxygen Species, Female, Male, PON, Paraoxonase, Hemoglobin, Hydroxyurea, Beta Thalassemia, Malondialdehyde, and Pharmacology and pharmaceutical sciences
4331 Since May 2008, the Cure2Children Foundation has supported both financially and professionally a network of centers in Pakistan for stem cell transplantation applied to the cure of thalassemia major, a very prevalent disease with... more
4331 Since May 2008, the Cure2Children Foundation has supported both financially and professionally a network of centers in Pakistan for stem cell transplantation applied to the cure of thalassemia major, a very prevalent disease with more than 60.000 registered cases in that country. The methodology employed consists of matched-related standard bone marrow transplantation after myeloablative chemotherapy as currently employed at the Mediaterranean Institute of Hematology for younger patients with transfusion-dependent thalassermia (thiotepa 10 mg/kg, busulfan 14 mg/kg and cyclophosphamide 200 mg/kg) followed by GVHD/rejection prophylaxis with prednisone/methotrexate/cyclosporin. Management standards for central venous access, severe pancytopenia, immunosuppression, hospital infection control, and other relevant issues have been addressed by local training as well as with web-based data management and videoconferencing. A total of 15 transplants have been performed to date, 7 at an ...
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The purpose of this study was to determine the frequency and trend of transfusion transmitted infections (TTI) in chronically transfused β-thalassaemia major (TM) patients with reference to the duration of transfusions. A cross-sectional... more
The purpose of this study was to determine the frequency and trend of transfusion transmitted infections (TTI) in chronically transfused β-thalassaemia major (TM) patients with reference to the duration of transfusions. A cross-sectional study was done on 160 β-TM patients and 5517 healthy blood donors to find out the prevalence of HCV, HBV and HIV infections. Out of 160 patients, 21 cases (13.1%) were anti-HCV positive, 2 (1.25%) were HBsAg positive. HIV antibodies were not detected in any sample. However, 109 (1.9%) and 104 (1.8%) of 5517 blood donors were positive for HCV and HBV respectively. No donor showed HIV antibodies. Anti-HCV was positive in 9/111(8.4%) thalassaemics (< 10 years of age) while 11/49 (22%) [> 10 years of age] showing significant difference (p = 0.005) among the two groups. For the past 10 - 12 years the screening of blood has reduced the magnitude of the disease significantly as shown by the trend in two age groups. Further improvements need to be don...
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Thalassaemia syndrome is a group of inherited disorders resulting in low oxygen carrying capacity; severe anaemia due to haemolysis, ineffective erythropoiesis and bone marrow expansion in the bones, liver and spleen being the causes.... more
Thalassaemia syndrome is a group of inherited disorders resulting in low oxygen carrying capacity; severe anaemia due to haemolysis, ineffective erythropoiesis and bone marrow expansion in the bones, liver and spleen being the causes. Globally, there are approx. 394 ß Thalassaemia mutations (excluding α and other variants genetic mutations) responsible for this disorder [1]. Each ethnic group has 5-6 common mutations causing β-thalassaemia; these mutations may not be shared in other ethnic groups [2]. Some mutations result in β+ phenotype (producing some functional Hb-A while others have more severe β0 phenotype (no functional Hb-A is formed). Rare cases are caused by deletion in ß globin gene (deletion of 619 base pairs in exon-1 of β-globin gene); found in Gujrati, Sindhi, and Memon ethnicities. Clinically, 40-50% β-thalassaemia major patients (reported by different laboratories on the basis of Hb-F) are in fact have lesser clinical severity and present late. Despite of Hb-F level...
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Background: Differentiation between thalassemia major and thalassemia intermedia at presentation is not uniformly characterized, for which an absolute criteria needs to be developed. This study investigated the primary and secondary... more
Background: Differentiation between thalassemia major and thalassemia intermedia at presentation is not uniformly characterized, for which an absolute criteria needs to be developed. This study investigated the primary and secondary genetic modifiers to develop a laboratory finding by forming different genetic mutational combinations seen among thalassemia intermedia patients and comparing them with thalassemia major. Methods: This cross- sectional study analyzed 315 thalassemia intermedia patients. One hundred and five thalassemia major patients were recruited on the basis of documented evidence of diagnosis and were receiving blood transfusion therapy regularly. Various mutational combinations were identified, and comparison was performed between thalassemia intermedia and major using statistical software STATA 11.1. Results: The mean age of the total population was 5.9 ± 5.32 years of which 165 (52%) were males. Of the two groups (thalassemia intermedia and thalassemia major), IV...
Research Interests: Hematology and Immunology
Objective: To evaluate the anti-hyperglycemic activity of alcoholic extract of Aralia cachemirica Decne roots. Materials and methods: The alcoholic extract of Aralia cachemirica was tested for anti-hyperglycemic activity on normal tasted,... more
Objective: To evaluate the anti-hyperglycemic activity of alcoholic extract of Aralia cachemirica Decne roots. Materials and methods: The alcoholic extract of Aralia cachemirica was tested for anti-hyperglycemic activity on normal tasted, glucose loaded and alloxan ...
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Research Interests: Pakistan, Humans, Male, Clinical Sciences, Adult, and 4 moreHemostasis, Recombinant Proteins, Hemorrhage, and Blood Loss
To share the preliminary data on stem cell transplantation in Pakistan. This is a single center retrospective analysis of the outcome of allogeneic peripheral blood stem cell (PBSC) transplantation in b-thalassemia major patients.... more
To share the preliminary data on stem cell transplantation in Pakistan. This is a single center retrospective analysis of the outcome of allogeneic peripheral blood stem cell (PBSC) transplantation in b-thalassemia major patients. Bismillah Taqee Blood Diseases Centre, Karachi; a tertiary care hematology center from September 1999 to September 2002. Twelve patients with b-thalassemia major received allogeneic PBSC transplantation from HLA identical sibling donors except in one case where mother was the donor. All patients received busulphan and cyclophosphamide conditioning therapy and cyclosporin A/methotrexate for graft versus host disease (GVHD) prophylaxis. Donors were primed with G-CSF for 4 days and stem cells were harvested using Haemonetics MCS + cell separator on 5th day. All patients received G-CSF starting from day + 4 until their neutrophil count rose to normal. Engraftment was achieved in all patients except one who required a second dose of bone marrow graft on day +21...
Research Interests: Multiple sclerosis, Magnetic Resonance Imaging, Breast Cancer, Natural History, Treatment Outcome, and 36 moreAdolescent, Stem Cell, Cell separation, Hematopoietic Stem Cells, Acute Myeloid Leukemia, Cerebrospinal Fluid, Brain, Humans, Child, Autoimmune diseases, influenza A, Female, Blood, Infection, Multiple Myeloma, Male, Clinical oncology, Immunosuppression, Bone marrow, Cell Transplantation, Affinity chromatography, Clinical Sciences, Middle Aged, Ex vivo expansion, Bone Marrow Transplantation, Adult, First Year, Clinical Study, Body Weight, Disease Progression, Pulmonary Function, Pulmonary function test, Cyclophosphamide, Autoantibodies, Autoantigens, and Myelin Sheath
This study analyzed the antidiabetic properties of an ethanol extract of the stem bark of Psidium guajava, an indigenous medicinal plant used to control diabetes in Indian System of Medicine. The anti-hyperglycaemic activity of this plant... more
This study analyzed the antidiabetic properties of an ethanol extract of the stem bark of Psidium guajava, an indigenous medicinal plant used to control diabetes in Indian System of Medicine. The anti-hyperglycaemic activity of this plant on blood glucose levels of normal, normal glucose loaded (OGTT) and alloxan-induced hyperglycaemic rats was evaluated. The results showed that ethanol stem bark extract exhibited statistically significant hypoglycaemic activity in alloxan-induced hyperglycaemic rats but was devoid of significant hypoglycaemic effect in normal and normal glucose loaded rats (OGTT).
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In Pakistan routine blood group typing of thalassemia patients identifies ABO and Rh(D) antigens only. Therefore, other antigen incompatibilities between blood donor and blood recipient may cause alloimmunisation. The aim of this study... more
In Pakistan routine blood group typing of thalassemia patients identifies ABO and Rh(D) antigens only. Therefore, other antigen incompatibilities between blood donor and blood recipient may cause alloimmunisation. The aim of this study was to estimate the frequency of alloimmunisation and to evaluate the risk factors associated with its development in beta (β)-thalassemia patients receiving regular blood transfusions. In total 162 β thalassemia patients were included in this study. An extended red cell antigen panel was performed to detect antibodies. Patients received red cell concentrates, which were matched for ABO and Rh(D) antigens. Clinical and laboratory data were collected and analysed to estimate the frequency of alloantibodies and the factors influencing immunisation in patients on regular blood transfusion. The median age of patients was 6·7 (range: 0·5-25) years. A total of 14 (8·6%) patients developed alloantibodies against red cell antigens. The most frequently occurri...
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Uncontrolled bleeding is the leading cause of mortality in the trauma victims. Massive bleeding after traumatic injury is a result of surgical and coagulopathic bleeding. We describe a case of gun shot injury brought to the hospital in a... more
Uncontrolled bleeding is the leading cause of mortality in the trauma victims. Massive bleeding after traumatic injury is a result of surgical and coagulopathic bleeding. We describe a case of gun shot injury brought to the hospital in a collapsed state because of massive blood loss in the abdominal cavity. Surgical intervention secured the surgical bleeding but coagulopathic bleeding continued which was controlled with Recombinant activated factor VII (rFVIIa). Guidelines of the use of factor VII in trauma are presented.
Research Interests: Pakistan, Humans, Male, Clinical Sciences, Adult, and 4 moreHemostasis, Recombinant Proteins, Hemorrhage, and Blood Loss
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An aqueous extract of Pterocarpus marsupium wood was screened for hypoglycemic activity on alloxan-induced diabetic rats. During both acute and sub-acute tests, the water extract, at an oral dose of 250 mg/kg, showed statistically... more
An aqueous extract of Pterocarpus marsupium wood was screened for hypoglycemic activity on alloxan-induced diabetic rats. During both acute and sub-acute tests, the water extract, at an oral dose of 250 mg/kg, showed statistically significant hypoglycemic activity.
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Effect of feeding orally the aqueous extract of beans of Cyamopsis tetragonoloba was investigated on fasting blood glucose levels in glucose loaded, normal and alloxan-induced diabetic rats and compared with gliclazide, a reference drug.... more
Effect of feeding orally the aqueous extract of beans of Cyamopsis tetragonoloba was investigated on fasting blood glucose levels in glucose loaded, normal and alloxan-induced diabetic rats and compared with gliclazide, a reference drug. The aqueous extract of beans at 250 mg/kg body wt significantly lowered blood glucose levels in alloxan-induced diabetic rats within 3 hr of administration. Continued administration of the extract at the same dose daily for 10 days produced statistically significant reduction in the blood glucose levels while marginal activity was seen in normal and glucose-loaded rats.
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A water extract of Psidium guajava leaves was screened for hypoglycemic activity on alloxan-induced diabetic rats. In both acute and sub-acute tests, the water extract, at an oral dose of 250 mg/kg, showed statistically significant... more
A water extract of Psidium guajava leaves was screened for hypoglycemic activity on alloxan-induced diabetic rats. In both acute and sub-acute tests, the water extract, at an oral dose of 250 mg/kg, showed statistically significant hypoglycemic activity.
Research Interests: India, Phytotherapy, Blood Glucose, Pancreas, Female, and 7 moreAnimals, Male, Psidium, Pharmazie, Plant extracts, Rats, and Wistar Rats
To screen immediate family members of thalassaemia patients for carrier identification and counselling. The cross-sectional study was conducted at an urban thalassaemia treatment and prevention centre in Karachi, Pakistan, from January to... more
To screen immediate family members of thalassaemia patients for carrier identification and counselling. The cross-sectional study was conducted at an urban thalassaemia treatment and prevention centre in Karachi, Pakistan, from January to December 2008, and involved 188 siblings of 100 thalassaemia patients. Complete blood count, including haemogram, was performed in the siblings. Samples with MCV < 75fl and MCH < 25% were subjected to haemoglobin-electrophoresis. Haemoglobin A2 of 3.5% to 7.0% was labelled as beta-thalassaemia minor. Those with haemoglobin A2 of 3.0-3.4% but red blood cell count of > 4.5 x 1012/L were reported as equivocal and were screened for iron deficiency anaemia and a repeat haemoglobin A2 estimation was done on high performance liquid chromatography. Equivocal results of the chromoatography were screened for thalassaemia mutation. Mean values along with standard deviation were worked out for relevant variables. Of the 188 subjects, there were 124 (6...