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Biomedical subjects

A Taher

Publications and source records attributed to A Taher.

At least 19 recordsLinked to original sources
PubMed2006

Genetic thrombophilia in patients with VTE in eastern Mediterranean located tertiary care center; is it time to change the algorithm for thrombophilia work up decision making?

BACKGROUND: Genetic thrombophilia work up performance is subject to debate because of the utility of the information it provides regarding prognosis of recurrence of venous thromboembolism (VTE) and guidance of duration of therapy with anticoagulation. Certain algorithms have been locally developed to guide decision making process to increase the yield of thrombophilia work up. These algorithms are not based on locally derived data. Data from the Eastern Mediterranean area (Lebanon) have shown high prevalence of thrombophilia mutations. Therefore the aim of this study was to describe the experience of a tertiary care center in thrombophilia work up among patients diagnosed with VTE. METHODS: A retrospective chart analysis of the cases diagnosed with pulmonary embolism or deep venous thrombosis with radiological confirmation. RESULTS: A total of 133 patients' charts were reviewed, 27 patients had thrombophilia work up performed, 56% had heterozygous MTHFR mutation, 44% were heterozygous for the Factor V Leiden mutation and 3.2% were found to have Factor II heterozygous mutations, and a total of 33.3% of patients had more than one genetic mutation. The common causes of provoked VTE were 59.53% malignancy, 22.64% post surgery, 12.98% bed ridden patients, and 4.85% oral contraceptive pills. Only 14% of patients with a malignancy who presented with VTE where receiving prophylactic heparin. DISCUSSION: Doubly heterozygous prothrombotic genetic mutations are commonly present among Eastern Mediterranean patients with VTE. A prospective study to determine the predictive (negative and positive) power of the currently followed algorithm for genetic thrombophilia work up remains of significant importance. Stressing the favorable role of VTE prophylaxis among patients suffering from malignancies remains a target for raising awareness among oncologists.

Adult↗
PubMed2006

Beta-thalassemia: the Lebanese experience.

Beta-thalassemia is a hereditary anemia that is quite prevalent in Lebanon. Most patients with beta-Thalassemia are treated and followed up mostly at a multidisciplinary center, located in the suburban area of Beirut: the Chronic Care Center (CCC), operational since 1994. We will review the experience with beta-Thalassemia accumulated through this institution. Four hundred and twenty five patients, aged 2 to 68 years are followed up at the CCC. Sixty four percent have thalassemia major (TM) while 36% have thalassemia intermedia (TI). Lebanese patients with TM receive periodic packed red cell transfusions to maintain a pre-transfusional hemoglobin level of 10 gm/dl at all times and desferrioxamine is the standard iron chelator in use. Since 1994, 12 patients with TM have died from complications of their disease, with heart failure being responsible for the majority of deaths. The incidence of cardiac, endocrinologic, and infectious complications will be reviewed. Finally, both current and prospective preventive measures will be discussed, specifically educational campaigns and premarital screening. The effects of prevention are starting to show as the number of newly diagnosed disease is diminishing.

Adolescent↗
PubMed2006

Diastolic dysfunction and pulmonary hypertension in sickle cell anemia: is there a role for L-carnitine treatment?

Clinical manifestations of cardiovascular abnormalities in patients with sickle cell (SC) anemia are well documented. Many variables were assessed in our study before and after administration of L-carnitine to randomly selected 37 SC disease (SCD) children for a period of 6 months. Variables such as weight, height, serum ferritin levels, units of blood transfused and the number of veno-occlusive crises all showed significant improvement after the 6 months of therapy with L-carnitine. Our study also showed that cardiac diastolic function and pulmonary hypertension are common in pediatric SCD patients. These two disorders showed some improvement after L-carnitine administration. Therefore, L-carnitine deserves a rigorous large-scale randomized clinical trial to evaluate its potential benefits as treatment for SCD patients with cardiac complications.

Adolescent↗
PubMed2005

Genetic heterogeneity of Beta thalassemia in Lebanon reflects historic and recent population migration.

Beta thalassemia is an autosomal recessive disorder characterized by reduced (beta(+)) or absent (beta(0)) beta-globin chain synthesis. In Lebanon it is the most predominant genetic defect. In this study we investigated the religious and geographic distribution of the beta-thalassemia mutations identified in Lebanon, and traced their precise origins. A total of 520 beta-globin chromosomes from patients of different religious and regional backgrounds was studied. Beta thalassemia mutations were identified using Amplification Refractory Mutation System (ARMS) PCR or direct gene sequencing. Six (IVS-I-110, IVS-I-1, IVS-I-6, IVS-II-1, cd 5 and the C > T substitution at cd 29) out of 20 beta-globin defects identified accounted for more than 86% of the total beta-thalassemia chromosomes. Sunni Muslims had the highest beta-thalassemia carrier rate and presented the greatest heterogeneity, with 16 different mutations. Shiite Muslims followed closely with 13 mutations, whereas Maronites represented 11.9% of all beta-thalassemic subjects and carried 7 different mutations. RFLP haplotype analysis showed that the observed genetic diversity originated from both new mutational events and gene flow from population migration. This study provides information about the types and distribution of beta-thalassemia mutations within each religious group and geographic region, which is essential for the implementation of screening and prevention programs.

Emigration and Immigration↗
PubMed2005

A comparison between prophylaxis and on demand treatment for severe haemophilia.

Patients with severe haemophilia can be treated for bleeding either prophylactically or on demand. Each treatment modality has advantages and disadvantages from both a medical and economic point of view. This study aims to find which modality requires more units of clotting factors per body weight per year and to compare the number of bleeds between the two. The study sample consisted of 133 patients with severe haemophilia A and B treated in the Katharine Dormandy Haemophilia Centre at the Royal Free Hampstead NHS Trust in London. The average number of clotting factors used per body weight per year was 2181.7 units for prophylaxis vs. 711 units for on demand treatment (P = 0.000). Although more units used means more money spent, and although prophylaxis has additional complications, namely venipunctures and increased risk of viral contamination, other criteria must be considered including the total number of bleeds and health-related quality of life. The total number of bleeds per year was significantly (P = 0.021) less for prophylactically (7.4) vs. on-demand treated patients (11.4). This suggests that prophylaxis reduces the risk of arthropathies, the number of future hospital visits and orthopaedic surgeries, and is thus the optimal modality of treatment for patients with severe haemophilia.

Adolescent↗
PubMed2005

Apoptosis in thalassemia major reduced by a butyrate derivative.

BACKGROUND AND OBJECTIVES: In cases of beta-thalassemia major, apoptosis appears to be greatly enhanced in the early-stage erythroid precursors in the bone marrow leading to ineffective erythropoiesis. L-Carnitine is found to strongly reduce apoptosis in different diseases. We investigated the effect of oral L-carnitine therapy on apoptosis in thalassemia major patients. METHODS: Eighteen thalassemia major patients with a mean age of 12.2 +/- 6.6 years were included. Detection of apoptosis was done by photometric enzyme immunoassay (ELISA) and agarose gel electrophoresis before and after 6 months of oral therapy with L-carnitine (50 mg/kg/day). RESULTS: A significant decrease of apoptosis frequency in the erythroid precursors in the bone marrow of studied cases was noted after therapy. The quantity of nucleosomes measured by ELISA dropped from 3.65 +/- 1.338 to 1.60 +/- 0.65 after therapy (p = 0.005). A positive ladder pattern reflecting apoptosis on agarose gel electrophoresis was detected in 88.9% of cases prior to treatment versus 16.7% after therapy (p = 0.006). Patients also had a significant decrease in the frequency of transfusions and increase in the pre-transfusion hemoglobin levels after therapy. CONCLUSION: L-Carnitine seems to be a good modulator of apoptotic processes in thalassemic patients leading to a decreased frequency of programmed erythroblast death and general improvement of the disease condition.

Adolescent↗
PubMed2004

Novel mutation, L371V, causing multigenerational Gaucher disease in a Lebanese family.

We have identified six individuals over three generations within a Lebanese-Arab family affected with Gaucher disease. This family is unusual and informative because affected members are homozygous for a previously unidentified mutation, L371V. Clinical symptoms begin in early childhood and progress to moderately severe involvement by young adulthood. There is significant anemia, thrombocytopenia, and bony involvement, but no mental deterioration. The phenotype is more severe than the phenotype observed in the common mutation associated with type 1 Gaucher disease, N370S. It is unknown whether L371V is a private mutation limited to this family, or will prove to be a common mutation within the Lebanese population.

Adolescent↗
PubMed2004

Five-year trial of deferiprone chelation therapy in thalassaemia major patients.

Twelve thalassaemia major patients have been given deferiprone 75 mg/kg body weight daily as iron chelation therapy for 5 years. Their ages ranged from 18 to 34 years (mean 24.2) at the end of the study. Two patients were hepatitis C virus (HCV) mRNA positive and a further 5 were positive for HCV antibody. The mean serum ferritin level fell significantly from 4,302 +/- 2,245 microg/l SD at baseline to 3,032 +/- 1,155 microg/l at 2 years (p = 0.037) and 2,229 +/- 1,070 microg/l (p = 0.007) at 5 years. At the end of the study, liver iron ranged from 3.59 to 23.7 mg/g dry weight (mean 11.9 +/- 5.4), 3 patients having levels >15 mg/g. There was no significant change in serum AST levels, but ALT levels fell significantly at 2 years (p = 0.019) and 5 years (p = 0.001). Liver biopsy at the end of the study showed no evidence of hepatic fibrosis caused by deferiprone. Cardiac studies showed no overall change in left ventricular ejection fraction but a significant improvement in isovolumic relaxation time (p = 0.045). We conclude that in this albeit small group of thalassaemia major patients, deferiprone was a safe long-term method of iron chelation. In a minority, higher doses of deferiprone or a combination with desferrioxamine would be needed to lower liver iron below 15 mg/g.

Adolescent↗
PubMed2004

Familial antiphospholipid antibodies and acquired circulating anticoagulants.

Familial clustering of elevated antiphospholipid antibody levels has been described, but the reports are heterogeneous with regard to the characterization of the antiphospholipid syndrome (APS), coexisting autoimmune diseases and clinical implications. We report a familial occurrence of APS in two patients, in the presence of SLE in the mother and absence of autoimmune diseases in the daughter along with acquired circulating inhibitors in both cases: platelet inhibitor and factor IX inhibitor, respectively.

Adult↗
PubMed2003

Beta-globin gene cluster haplotypes and HbF levels are not the only modulators of sickle cell disease in Lebanon.

Sickle cell disease (SCD) is an inherited autosomal recessive disorder of the beta-globin chain. Despite the fact that all subjects with SCD have the same single base pair mutation, the severity of the clinical and hematological manifestations is extremely variable. This study examined for the first time in Lebanon the correlation between the clinical manifestation of SCD and the beta-globin gene haplotypes. The haplotypes of 50 patients diagnosed with SCD were determined using polymerase chain reaction amplification of fragments containing nine polymorphic restriction sites around and within the epsilon-Ggamma-Agamma-psibeta-delta-beta-globin gene complex. Most reported haplotypes were found in our population with the Benin haplotype as the most prevalent one. When the patients were divided according to their HbF levels into three groups (Group A: HbF < 5%, Group B: HbF between 5 and 15%, and Group C: HbF > 15%), surprisingly, the highest levels of HbF were associated with the most severe clinical cases. Our findings suggest that fetal hemoglobin levels are important but not the only parameters that affect the severity of the disease. In addition, the high levels of HbF in patients with CAR haplotypes did not seem to ameliorate the severity of symptoms, suggesting that genetic factors other than haplotypes are the major determinants of increased HbF levels in Lebanon.

Adolescent↗
PubMed2003

IgM myeloma and Waldenstrom's macroglobulinemia: a distinct clinical feature, histology, immunophenotype, and chromosomal abnormality.

Multiple myeloma represents a malignant proliferation of plasma cells derived from a single clone within the bone marrow. While the cause of myeloma is not known, interleukin 6 may play a role in driving myeloma cell proliferation. Waldenstrom's macroglobulinemia (WM) is a proliferative disease of B-lymphocytes. The cells have lymphoplasmacytoid features and secrete IgM. It is important to distinguish between IgM myeloma and WM as they have distinct clinical courses and prognoses, and treatment strategies are therefore different. The clinical characteristics of a patient diagnosed with IgM myeloma, and his excellent response to treatment are reported here.

Chromosome Aberrations↗
PubMed2003

Coexistence of lupus anticoagulant and acquired haemophilia in a patient with monoclonal gammopathy of unknown significance.

Acquired haemophilia or factor VIII (FVIII) deficiency, caused by FVIII inhibitor antibodies, is a very rare condition that commonly results in severe haemorrhagic complications. We report a case of acquired haemophilia presenting with a left calfnontraumatic haematoma. The patient was also found to have lupus anticoagulant (LAC). The simultaneous presence of LAC and FVIII inhibitor is exceedingly rare. The differentiation between these two conditions is crucial, because both result in a prolongation of the activated partial thromboplastin time test, which does not correct when mixed with the plasma of a normal control; however, the clinical manifestations range from thrombosis in the presence of LAC to massive haemorrhage with FVIII inhibitors.

Adult↗
PubMed2003

Idiopathic thrombocytopenic purpura and ovarian cancer.

The association of ovarian carcinoma with idiopathic thrombocytopenic purpura (ITP) is rare. There have been different case reports indicating an association between solid tumors and ITP. We report a case of a 47-year-old woman diagnosed with ovarian cancer who presented with abdominal distention and thrombocytopenia. Her clinical course and the mechanisms of thrombocytopenia are discussed.

Carcinoma, Endometrioid↗
PubMed2002

Effect of oral iron chelation therapy with deferiprone (L1) on the psychosocial status of thalassaemia patients.

Beta-thalassemia requires life-long treatment, including regular blood transfusion and daily iron chelation by desferrioxamine, which places considerable burden on the social and psychological life of patients. It is expected that oral chelation therapy, which is easier to administer, would improve their psychosocial status. In this sutdy, interviews were conducted with a series of 44 patients recently placed on oral chelation therapy to evaluate their reactions to the new treatment. Eighty-six per cent of patients complied better with the oral chelation therapy. Fifty per cent of patients mentioned that relief from the desferrioxamine pump was the major improvement, while 47% felt psychologically better. Fifty per cent of patients noted improvements in their relationships, while 63% noted increased social activities. Evaluation of a larger sample of patients over a longer period of time is needed in order to confirm the favourable results obtained in this study.

Adolescent↗