WorldWideScience
 
 
1

Nutritional Biomarkers in Children and Adolescents with Beta-Thalassemia-Major: An Egyptian Center Experience  

Science.gov (United States)

Background and Aim. Trace elements and vitamins play a vital role in human body to perform its function properly. Thalassemic patients are at risk of micronutrient deficiency. This study estimated levels of vitamins A, C, E, B12, folic acid, total homocysteine (tHcy), and methylmalonic acid (MMA) along with trace elements, zinc, copper, and selenium in Beta-thalassemia-major patients. Methods. This study included 108 patients with Beta-thalassemia-major and 60 age and sex matched healthy children. Serum levels of vitamin A, E, C, tHcy, and MMA were estimated by high pressure liquid chromatography while serum levels of folic acid and B12 were estimated by thin layer chromatography. Serum zinc, copper, and selenium were determined by atomic absorption spectrometry. Results. There was a significant decrease of vitamins A, C, E, and B12 and trace elements zinc, copper, and selenium in thalassemic patients as compared to controls. tHcy and MMA were significantly elevated in patients. No significant correlations were found between the serum levels of the studied vitamins and trace elements as regards age, frequency of transfusion, duration of transfusion, and serum ferritin. Conclusion. The level of various nutritional biomarkers (vitamins A, C, E, and B12 and trace elements zinc, copper, selenium) was reduced in chronically transfused Egyptian thalassemic patient. These patients should have periodic nutritional evaluation and supplementation. Multicenter studies are highly recommended. PMID:24812610

Sherief, Laila M.; Abd El-Salam, Sanaa M.; Kamal, Naglaa M.; El safy, Osama; Azab, Seham F.; Morsy, Hemat M.; Gharieb, Amal F.

2014-01-01

2

Portal vein thrombosis after splenectomy for beta-thalassemia major.  

Directory of Open Access Journals (Sweden)

Portal vein thrombosis is a recognized complication after splenectomy in beta-thalassemia major due to the chronic hypercoagulable state which has been recognized to exist in childhood thalassemia and contribute to thromboembolic events. We are reporting one patient with beta-thalassemia major developed portal vein thrombosis following splenectomy.

Zakaria M. Al-Hawsawi

2004-02-01

3

Portal vein thrombosis after splenectomy for beta-thalassemia major  

International Nuclear Information System (INIS)

Portal vein thrombosis is a recognized complication after splenectomy for beta-thalassemia major due to the chronic hypercoagulable state which has been recognized to exist in childhood thalassemia and contribute to thromboembolic events. We reporting one patient with beta-thalassemia major developed portal vein thrombosis following splenectomy. (author)

4

Scintigraphic evaluation of bone involvement in beta thalassemia major  

International Nuclear Information System (INIS)

In this article, the authors describe a 19 year old man with beta-thalassemia major and back pain, who was studied with a Tc99m Metilendiphosphonate (Tc99m MDP) bone scan. This case shows many of the complications of beta-thalassemia major in the skeletal system. Also we can see some indirect signs of endocrinopathies associated (Au)

5

Gradient-echo magnetic resonance imaging study of pancreatic iron overload in young Egyptian beta-thalassemia major patients and effect of splenectomy  

Directory of Open Access Journals (Sweden)

Full Text Available Abstract Background Thalassemic patients suffer from diabetes mellitus secondary to hemosiderosis. Aims The study aimed to evaluate pancreatic iron overload by T2*-weighted Gradient-echo magnetic resonance imaging (MRI in young beta-thalassemia major patients and to correlate it with glucose disturbances, hepatic hemosiderosis, serum ferritin and splenectomy. Methods Forty thalassemic patients (20 non diabetic, 10 diabetic, and 10 with impaired glucose tolerance were recruited from Pediatric Hematology Clinic, in addition to 20 healthy controls. All patients underwent clinical assessment and laboratory investigations included complete blood count, liver function tests, serum ferritin and oral glucose tolerance test (OGTT. A T2*-weighted gradient-echo sequence MRI was performed with 1.5 T scanner and signal intensity ratio (SIR of the liver and the pancreas to noise were calculated. Results Significant reduction in signal intensity ratio (SIR of the liver and the pancreas was shown in thalassemic patients compared to controls (P Conclusions pancreatic siderosis can be detected by T2* gradient-echo MRI since childhood in thalassemic patients, and is more evident in patients with abnormal glucose tolerance. After splenectomy, iron deposition may be accelerated in the pancreas. Follow up of thalassemic patients using pancreatic MRI together with intensive chelation therapy may help to prevent the development of overt diabetes.

Matter Randa M

2010-04-01

6

Malocclusion in subjects with beta-thalassemia major  

Directory of Open Access Journals (Sweden)

Full Text Available Introduction: Introduction: Beta-thalassemia major is a hemolytic anemia. If these patients are not treated, bone marrow hyperplasia will happen. Hematopoiesis in the jaw results in mandibular and/or maxillary enlargement. To our knowledge, there are few studies about frequency of malocclusion in these patients. Therefore, this study was designed to investigate the frequency of malocclusion in beta-thalassemia patients and compare it to healthy control group. Materials and Methods: This research was a cross sectional study. Seventy beta-thalassemia patients and 70 healthy controls (age and sex matched were examined for malocclusion using Angle classification, WHO malocclusion classification, determination of overjet and overbite. If crossbite, spacing, openbite, crowding and mouth breathing were observed in clinical examination they were recorded. Statistical analysis was done using Chi-square and Variants analysis. Results: Beta-thalassemia patients showed class II malocclusion (angle classification and grade 2 (WHO classification more than healthy control group. There were significant differences in angle & WHO malocclusion classification between two groups (P<0.05. Increased overjet and mouth breathing were seen in patients more than healthy control group. There were significant differences in overjet and mouth breathing between two groups (P<0.05. There was a positive correlation between WHO malocclusion classification and serum ferritin levels, but not between angle malocclusion classification, overjet and serum ferritin levels. Conclusion: Beta-thalassemia major is associated with increased malocclusion and these anomalies will occur if the patients are not treated early. Patients with malocclusion should be visited and followed up by a dentist for dental problems. Fortunately, as a result of new treatments these patients live longer than before. Therefore, it is important to pay attention to their functional and esthetical problems.

F. Shahsevari

2007-08-01

7

Scintigraphic evaluation of bone involvement in Beta Thalassemia major.  

Directory of Open Access Journals (Sweden)

Full Text Available En este artículo los autores presentan el caso de un hombre de 19 años de edad portador de beta talasemia mayor que fue referido para cintigrafía ósea con Tc99m metilendifosfonato (Tc99m MDP por un cuadro de lumbalgia. Este caso muestra muchas de las repercusiones de la beta talasemia mayor en el esqueleto. Además, podemos observar signos indirectos de algunas endocrinopatías asociadas.n this article, the authors describe a 19 year old man with beta-thalassemia major and back pain, who was studied with a Tc99m Metilendiphosphonate (Tc99m MDP bone scan. This case shows many of the complications of beta-thalassemia major in the skeletal system. Also we can see some indirect signs of endocrinopathies associated.

Armijo, Soledad M.D.

2000-10-01

8

Hypoparathyroidism in Adult Patients with Beta-Thalassemia Major  

Science.gov (United States)

Objective: To evaluate the prevalence of hypoparathyroidism in adult transfusion-dependent patients with beta-thalassemia major in a teaching referral hospital in Oman. Methods: All adult (>13 years) patients with beta-thalassemia major seen at Royal Hospital in Oman between 2004 and 2006 were studied. Demographic, pharmaceutical, clinical and biochemical data were collected for all the subjects. Analyses were performed using both descriptive and univariate statistics. Results: A total of 31 patients were included into the study with an overall mean age of 19±3 years ranging from 14 to 30 years. Just over half of the subjects were males (n=16; 52%). All the patients were on hypertransfusion and combined chelation therapy with desferrioxamine 40–60 mg/kg 5 days per week and deferiprone 75 mg/kg/day. Three of the patients had low levels of parathyroid hormone (<1.6 pmol/l). A further three patients had normal levels of parathyroid hormone (1.6 – 9.3 pmol/l) in the presence of low serum calcium levels (<2.1 mmol/l). These patients (with normal hypoparathyroid hormone levels, but lower calcium levels) were also defined to have hypoparathyroidism bringing the total prevalence of hypoparathyroidism in this cohort of adult patients with Beta-thalassemia major to 19% (6 out of 31). The patients with hypoparathyroidism had statistically significantly lower levels of parathyroid hormone (2.7 versus 5.3 pmol/l; p=0.031) and serum calcium (1.7 versus 2.3 pmol/l; p=0.004) compared to those without hypoparathyroidism. Conclusion: The prevalence of hypoparathyroidism in adult beta-thalassemia major patients at this referral center was significantly higher (19%) than those reported elsewhere (2.5 and 10.7%). PMID:21748106

Sleem, Gihan Ali A M; Al-Zakwani, Ibrahim S; Almuslahi, Muhanna

2007-01-01

9

Hematuria in Patients With Beta-Thalassemia Major  

Directory of Open Access Journals (Sweden)

Full Text Available Introduction. Our information about renal involvement in beta-thalassemia major is limited. Recently, few studies have reported proteinuria, hypercalcuria, phosphaturia, and oversecretion of tubular damage markers; however, hematuria has not yet been meticulously studied in these patients. We investigated hematuria in patients with beta-thalassemia major.Materials and Methods. Urinalysis was performed in 500 patients with beta-thalassemia major under a regular blood transfusion program. In those with hematuria (at least 3 to 5 erythrocytes per high-power field a second urinalysis was done at the next transfusion time.Results. The patients ranged in age from 6 months to 32 years. The male-female ratio was 1.05:1. Hematuria was detected in 55 (10.6%, including 9.8% of those younger than 20 years and 20.0% of those older than 20 years. Hematuria was persistent in 79.2% of the second urinalyses. Sixty-four percent of the patients with hematuria were females. A blood transfusion program had been started during the first year of life in 81% percent of the patients with hematuria. Sterile pyuria was detected in 4% and proteinuria in 16% of the patients with hematuria, while these figures in patients without hematuria were 2.1% (P = .56 and 1.4% (P = .002, respectively.Conclusions. We found that in patients with beta-thalassemia major, the risk of hematuria rises with age. Moreover, proteinuria seems to be more common in those with hematuria. Further studies are needed to ascertain the importance of these findings.

Mohammad Hossein Fallahzadeh

2010-04-01

10

Hemoglobin D/beta-thalassemia and beta-thalassemia major in a Saudi family.  

Directory of Open Access Journals (Sweden)

The present report describes the clinical, hematological and molecular characteristics in a family with unique interaction between 3 different mutations discovered during routine workup for bone marrow transplantation. In this report, complete hematological and molecular studies were performed for a large Saudi family. The family consisted of parents and 9 children, which revealed that the father is compound heterozygous for hemoglobin Hb D Punjab/beta-thalassemia, the mother is a carrier for beta-thalassemia and 3 of their children are transfusion dependent beta-thalassemia. Two of the children are compound heterozygous for Hb D Punjab/beta-thalassemia like the father but with different genotype. The other 2 children have Hb D Punjab traits while 2 other children have beta-thalassemia traits. Although, compound heterozygous for Hb D/beta-thalassemia has been well described in the literature, our report emphasizes the importance of careful analysis of the electrophoresis results and the usefulness of molecular studies in premarital screening and other screening hemoglobinopathy programs.

Tarek M. Owaidah

2005-04-01

11

Magnetic measurements on human erythrocytes: Normal, beta thalassemia major, and sickle  

Science.gov (United States)

In this article magnetic measurements were made on human erythrocytes at different hemoglobin states (normal and reduced hemoglobin). Different blood samples: normal, beta thalassemia major, and sickle were studied. Beta thalassemia major and sickle samples were taken from patients receiving lifelong blood transfusion treatment. All samples examined exhibited diamagnetic behavior. Beta thalassemia major and sickle samples showed higher diamagnetic susceptibilities than that for the normal, which was attributed to the increase of membrane to hemoglobin volume ratio of the abnormal cells. Magnetic measurements showed that the erythrocytes in the reduced state showed less diamagnetic response in comparison with erythrocytes in the normal state. Analysis of the paramagnetic component of magnetization curves gave an effective magnetic moment of ?eff=7.6 ?B per reduced hemoglobin molecule. The same procedure was applied to sickle and beta thalassemia major samples and values for ?eff were found to be comparable to that of the normal erythrocytes.

Sakhnini, Lama

2003-05-01

12

High Prevalence of Hypoparathyroidism in Patients with beta-Thalassemia Major  

Digital Repository Infrastructure Vision for European Research (DRIVER)

"nIntroduction: Hypoparathyroidism (HPT) is an irreversible but preventable disorder caused by an iron overload which can be considered a typical complication in patients with beta-thalassemia major. "nPatients and method: Parathyroid function was evaluated in 130 patients in Qom, Iran, who suffered from beta-thalassemia major. Their serum ferritin levels were checked for monitoring of chelation therapy effects. "nResults: The prevalence of HPT was 14.6% (19/130). The median ag...

Amir Ali Hamidieh; Moradbeag, B.; Pasha, F.; Mehdi Jalili; Hadjibabaie, M.; Keshavarznia, M.

2009-01-01

13

Economic burden of beta-thalassemia/Hb E and beta-thalassemia major in Thai children  

Directory of Open Access Journals (Sweden)

Full Text Available Abstract Background Hemoglobin E beta-thalassemia (?-thalassemia/Hb E has a variable severity, and the cost of treatment has not been well studied. The aim of this study was to analyze the societal cost of caring for children with ?-thalassemias in Thailand. The study was designed as a prevalence-based cost-of-illness analysis in a societal perspective. Medical records from three public hospitals of children aged 2-18 years with ?-thalassemia/Hb E and homozygous ?-thalassemia were reviewed for direct medical cost determination. For direct non-medical cost and indirect cost, a family member was interviewed. Findings It was found that 201 patients with ?-thalassemia/Hb E (91% and homozygous ?-thalassemia (9% were recruited for this study. Ninety-two (46% were severe thalassemia and 109 (54% were mild to moderate severity. The annual average cost of treatment was US$950; 59% was direct medical cost, 17% direct non-medical cost, and 24% indirect cost. The costs were differentiated by some potential predictors. Significant predictor variables were: hospital, health insurance scheme, blood transfusion pattern, and iron chelation drug use. Conclusions The average annual cost per patient was calculated, and the cost model was estimated. These would be applied for national planning, economic evaluation of treatment and prevention interventions, and budget impact analysis.

Riewpaiboon Arthorn

2010-01-01

14

Beta Thalassemia  

Science.gov (United States)

Beta Thalassemia To understand how thalassemia affects the human body, you must first understand a little about how ... who have one abnormal beta globin gene have beta thalassemia trait (also known as beta thalassemia minor). BETA ...

15

Serum Folate Levels in Major Beta Thalassemia Patients  

Directory of Open Access Journals (Sweden)

Full Text Available Objective: Beta major thalassemia is a variant of beta thalassemia syndrome which could be treated with bone marrow transplantation or if not available, regular blood transfusion. In the latter case, supportive therapy is the mainstay of treatment because of low folate intake or absorption. But the main cause of insufficient supportive therapy is the increasing need of bone marrow for ineffective erythropoiesis in the absence of regular blood transfusion. The purpose of regular blood transfusion in ? major thalassemia patients is to maintain the range of hemoglobin level between 9 and 11 gr/dl to stop insufficient erythropoiesis completely. Therefore, by regular blood transfusion, supportive therapy with folic acid would not be needed. The aim of this study is to determine serum folate level in regular transfused ? major thalassemia patients in Mofid Children's Hospital during 2006.Methods: This is a cross sectional descriptive–analytic study performed on 100 ? major thalassemia patients receiving regular blood transfusion and desferal. Post-storage leukodepleted blood is used for transfusion. Patients’ data is achieved from information data sheets. Serum folate level is determined with Electrochemiluminescence method in one of the most reliable laboratory centers. Normal serum folate level was 3-17.5 ng/ml in this laboratory with the sensitivity of 0.6 ng. Data analysis is performed with SPSS analysis software, and with chi squared, T-test and Spearman test.Findings: 56 (56% girls and 44 (44% boys entered this study with a median age of 156 (? 71.2 months and an age range of 14-288 months. Patients’ median hemoglobin level was 9.5 (?0.87 g/dl, with minimum of 7.5 and maximum of 11.9 g/dl. Mean MCV was 84.2 (?4.20 fl, with the range of 73.4 -95.3 fl. Serum folate level was in the range of 1-19 ng/ml and median of 9 (? 4.9 ng/ml. Serum folate was less than 3 ng/ml in 3% of evaluated patients. Hemoglobin level was equal or more than 9 g/dl in 73% of patients.Conclusion: It seems that if major ? thalassemia patients receive regular blood transfusion, their serum folate level would be in normal range and supplementation therapy with folate will not be necessary.

Samin Alavi

16

Evaluation of pulmonary function in beta-thalassemia major patients  

International Nuclear Information System (INIS)

Objective: To describe and quantify the functional change of the lung in patients with beta-thalassemia major (TM) and determine the correlation between pulmonary function test (PFT) results with hemoglobin, ferritin and age changes. Methodology: Pulmonary function tests were performed on 60 transfusion-dependent patients with TM, ranging in age from 10 to 45 years. Percent-predicted values for forced expiratory volume in one second (FEV1), and forced expiratory flows (FEF) 25-75% were significantly reduced, whereas forced expiratory vital capacity (FVC) and FEV1/FVC were closed to normal limits, indicating a restrictive disease. All factors including; FVC, FEV1, and FEV1/FVC, FEF 25-75% were negatively correlated with age and ferritin levels. In contrast, all factors including; FVC, FEV1, and FEV1/FVC, FEF 25-75% were positively correlated with hemoglobin (Hb). We performed linear regression analysis to study the simultaneous influence of the presence of age, ferritin, and Hb on obstructive PFT indexes. Results: Pulmonary function test results were normal in only 32 (53.3%) of 60 patients and the rest 28 cases (46.7%) showed abnormal pulmonary function. FEV1 and FEF 25% - 75% have significant negative correlation with age (r = - 0.64 p(r) = 0.003 and r = - 0.58 p(r) = 0.02 respectively), also have significant positive correlation with Hb (r = 0.31 p(r) = 0.015 and r = 0.33 p(r) = 0.01 respectively), and only FEF 25% - 75% has significant negative correlation with ferritin (r -0.26 p(r) = 0.04). Conclusion: The present study has shown that restrictive disease and reduced lung diffusing capacity are the predominant abnormalities of pulmonary function patients with TM. The low hemoglobin concentration and a fall in the diffusing capacity of the alveola - capillary membrane, together with the dependence of the reduced pulmonary diffusing capacity on age and serum ferritin levels, as well as of the entity of restrictive disease on age, suggests that pulmonary dysfunctions in patients with TM are due mainly to lung fibrosis and/or interstitial edema related to iron overload. (author)

17

Major Causes of Hospital Admission in Beta Thalassemia Major Patients in Southern Iran  

Directory of Open Access Journals (Sweden)

Full Text Available Objective: Beta thalassemia major is a prevalent hereditary disease in Mediterranean region especially Iran. Early blood transfusion is necessary for most of the patients and frequent transfusion can cause various medical problems for the patients. The aim of this study was to find major causes of hospital admission in beta thalassemia major patients to reach the accurate preventive and therapeutic plans for these patients.Methods: Four hundred twenty six patients were admitted to the Nemazee Hospital (the main University referral Hospital Center affiliated to Shiraz University of Medical Sciences in Fars Province, southern Iran during 3 years period (January 2007 to January 2010. A questionnaire was filled containing age, gender, hemoglobin level, frequency of blood transfusions, deferoxamine injection, cause of hospital admission and hospital course.Findings: The mean age of patients was 11.28 years. The mean serum ferritin level was 1820±749 ?g/lit. Two hundred fifty five (59.75% patients were male and 171 (40.25% patients were female. The top five most prevalent causes of hospital admission were splenectomy (21.8%, infections (19.9%, congestive heart failure (19.0%, diabetes mellitus (13.4%, and Liver biopsy (11.5%. (P=0.0002Conclusion: Results of this study revealed that infections and complications due to iron overload are major causes of hospital admission in beta thalassemia major patients.

Mehran Karimi

2011-12-01

18

Major Causes of Hospital Admission in Beta Thalassemia Major Patients in Southern Iran  

Directory of Open Access Journals (Sweden)

Full Text Available Objective: Beta thalassemia major is a prevalent hereditary disease in Mediterranean region especially Iran. Early blood transfusion is necessary for most of the patients and frequent transfusion can cause various medical problems for the patients. The aim of this study was to find major causes of hospital admission in beta thalassemia major patients to reach the accurate preventive and therapeutic plans for these patients.Methods: Four hundred twenty six patients were admitted to the Nemazee Hospital (the main University referral Hospital Center affiliated to Shiraz University of Medical Sciences in Fars Province, southern Iran during 3 years period (January 2007 to January 2010. A questionnaire was filled containing age, gender, hemoglobin level, frequency of blood transfusions, deferoxamine injection, cause of hospital admission and hospital course.Findings: The mean age of patients was 11.28 years. The mean serum ferritin level was 1820±749 µg/lit. Two hundred fifty five (59.75% patients were male and 171 (40.25% patients were female. The top five most prevalent causes of hospital admission were splenectomy (21.8%, infections (19.9%, congestive heart failure (19.0%, diabetes mellitus (13.4%, and Liver biopsy (11.5%. (P=0.0002.Conclusion: Results of this study revealed that infections and complications due to iron overload are major causes of hospital admission in beta thalassemia major patients.

Jacob Hoseini

2011-12-01

19

Serum Immunoglobulin Levels in Splenectomized and Non-Splenectomized Patients with Major Beta-Thalassemia  

Directory of Open Access Journals (Sweden)

Full Text Available Objective:Thalassemia is a common disease in many countries, in which several complications such as infections can occur. Although aberration in the function of the immune system could be a reason for such complication, a little is known about the status of humoral immune system in major beta thalassemia. In this study we measured serum immunoglobulins level in a group of patients with major beta thalassemia.Methods:Ninety nine patients with major beta thalassemia were enrolled in this study divided into two groups of splenctomized and not splenctomized patients. Serum IgG, IgM and IgA levels of these patients were measured and analyzed.Findings:Serum mean levels of IgG and IgM in patients of all ages in both groups were normal. The mean serum IgA level in the group of not splenectomized patients aged less than five years as well as in the splenectomized patients aged more than twenty years was increased. However, it was normal in other age groups.Conclusion:Although this study could not show any defect in the humoral immune system, evaluation of immunoglobulins could be useful to understand the relmarkable high rate of infection in the patients with major beta thalassemia.

Mojgan Kiani-amin

2011-03-01

20

Serum Immunoglobulin Levels in Splenectomized and Non-Splenectomized Patients with Major Beta-Thalassemia  

Directory of Open Access Journals (Sweden)

Full Text Available Objective:Thalassemia is a common disease in many countries, in which several complications such as infections can occur. Although aberration in the function of the immune system could be a reason for such complication, a little is known about the status of humoral immune system in major beta thalassemia. In this study we measured serum immunoglobulins level in a group of patients with major beta thalassemia. Methods:Ninety nine patients with major beta thalassemia were enrolled in this study divided into two groups of splenctomized and not splenctomized patients. Serum IgG, IgM and IgA levels of these patients were measured and analyzed. Findings:Serum mean levels of IgG and IgM in patients of all ages in both groups were normal. The mean serum IgA level in the group of not splenectomized patients aged less than five years as well as in the splenectomized patients aged more than twenty years was increased. However, it was normal in other age groups. Conclusion:Although this study could not show any defect in the humoral immune system, evaluation of immunoglobulins could be useful to understand the relmarkable high rate of infection in the patients with major beta thalassemia.

Shima Mohammadian

2011-03-01

 
 
 
 
21

Bone metabolism and mineral density in patients with beta-thalassemia major.  

Directory of Open Access Journals (Sweden)

The BMD is decreased in thalassemic patients. Growth retardation, growth hormone / IGF-I / IGFBP-3 axis dysfunction, gonadal dysfunction and hypothalomo-pituitary-gonadal axis dysfunction may be responsible for the development of osteoporosis in the patients with beta-thalassemia major.

Umit Dundar

2007-09-01

22

A cross-sectional study of metabolic and endocrine complications in beta-thalassemia major  

International Nuclear Information System (INIS)

Iron overload is a major problem in patients with beta-thalassemia major, and it has many structural and metabolic consequences. The aim of this study was evaluation of endocrine disturbances in patients with beta-thalassemia major who were older than 10 years of age. In this cross-sectional study, investigator collected demographic data and medical histories, as well as menstrual history in females, from the medical records of 56 patients with beta-thalassemia major. Patients were examined to determine their pubertal status and the standard deviation score for height for evaluation of short stature. For evaluation of glucose tolerance, a fasting blood glucose and oral glucose tolerance tests were performed. Evidence for diabetes mellitus was based on American Diabetes Association and World Health Organization criteria. Serum levels of calcium, phosphorous, thyroid-stimulating hormone, free thyroxin, luteinizing hormone and follicular-stimulating hormone and estradiol in girls and testosterone in boys were measured. The mean and standard deviation for age in the 56 patients (36 males and 20 females) was 15.62+-4.44 years. Diabetes mellitus was present in 5 patients (8.9%), impaired fasting glucose was found in 16 patients (28.6%) and an impaired glucose tolerance test was found in 4 patients (7.1%). Short stature (standard deviation score <-2) was seen in 25 (70%) boys and 14 (73%) girls. Impaired puberty was found in 40 patients (71%). Hypocalcaemia and primary overt hyperthyroidism were present in 23 (41%) and 9 patients (16%), respectively. Only eight patients (14.3%) had no endocrine abnormalities. Despite therapy with deferoxamine to treat iron overload, the risk of secondary endocrine dysfunction remained high. Hypogonadism was one of the most frequent endocrine complications. Impaired glucose tolerance, short stature, hypocalcemia, subclinical and overt hypothyroidism are also frequent. (author)

23

A cross-sectional study of metabolic and endocrine complications in beta-thalassemia major  

Directory of Open Access Journals (Sweden)

Full Text Available Background and Objectives: Iron overload is a major problem in patients with beta-thalassemia major, and it has many structural and metabolic consequences. The aim of this study was evaluation of endocrine disturbances in patients with beta-thalassemia major who were older than 10 years of age. Patients and Methods: In this cross-sectional study, investigators collected demographic data and medical histories, as well as menstrual history in females, from the medical records of 56 patients with beta-thalassemia major. Patients were examined to determine their pubertal status and the standard deviation score for height for evaluation of short stature. For evaluation of glucose tolerance, a fasting blood glucose and oral glucose tolerance test were performed. Evidence for diabetes mellitus was based on American Diabetes Association and World Health Organization criteria. Serum levels of calcium, phosphorous, thyroid-stimulating hormone, free thyroxin, luteinizing hormone and follicular-stimulating hormone, and estradiol in girls and testosterone in boys were measured. Results: The mean and standard deviation for age in the 56 patients (36 males and 20 females was 15.62±4.44 years. Diabetes mellitus was present in 5 patients (8.9%, impaired fasting glucose was found in 16 patients (28.6% and an impaired glucose tolerance test was found in 4 patients (7.1%. Short stature (standard deviation score Conclusion: Despite therapy with deferoxamine to treat iron overload, the risk of secondary endocrine dysfunction remained high. Hypogonadism was one of the most frequent endocrine complications. Impaired glucose tolerance, short stature, hypocalcemia, subclinical and overt hypothyroidism are also frequent.

Najafipour Farzad

2008-01-01

24

Assessment of Thyroid Function in Children Aged 1-13 Years with Beta-Thalassemia Major  

Directory of Open Access Journals (Sweden)

Full Text Available Objective: Hypothyroidism usually appears in the second decade of life and is thought to be associated with iron overload in patients with thalassemia major. This study aimed to evaluate thyroid dysfunctions in patients with beta-thalassemia major and to see if they appear in the earlier period of life.Methods: Thyroid function and iron load status were evaluated in 90 children with a mean age of 7.17±3.78 years with beta-thalassemia major by measuring serum free thyroxin (FT4, serum free triiodothyronine (FT3, total thyroxin (T3, serum total triiodothyronine (T4, thyroid-stimulating hormone (TSH and ferritin levels from serum of patients admitted to the Pediatric Department, Faculty of Medicine University of Dicle between March 2005 and July 2009. A control group formed from an age-sex matched healthy children with a mean age of 6.98±3.66 years was also included. A standard thyrotropin releasing hormone test was applied to 3 patients who had high TSH levels and were classified as subclinical primer hypothyroidism. The study was designed according to the Declaration of Helsinki and informed consent was obtained from the parents of all participants.Findings: All thyroid parameters in patients were in the normal ranges compared with the controls except three of them which had high TSH levels. Serum ferritin level (2703±1649 ng/mL in patients was significantly higher than in controls (81.5±15.5 ng/mL.Conclusion: The work implies that hypothyroidism could be even seen in the first decade of life in patients with beta-thalassemia major in spite of improved hematological cares.

Ayfer Gozu Pirinccioglu

2011-03-01

25

Assessment of Thyroid Function in Children Aged 1-13 Years with Beta-Thalassemia Major  

Directory of Open Access Journals (Sweden)

Full Text Available Objective:Hypothyroidism usually appears in the second decade of life and is thought to be associated with iron overload in patients with thalassemia major. This study aimed to evaluate thyroid dysfunctions in patients with beta-thalassemia major and to see if they appear in the earlier period of life. Methods:Thyroid function and iron load status were evaluated in 90 children with a mean age of 7.17±3.78 years with beta-thalassemia major by measuring serum free thyroxin (FT4, serum free triiodothyronine (FT3, total thyroxin (T3, serum total triiodothyronine (T4, thyroid-stimulating hormone (TSH and ferritin levels from serum of patients admitted to the Pediatric Department, Faculty of Medicine University of Dicle between March 2005 and July 2009. A control group formed from an age-sex matched healthy children with a mean age of 6.98±3.66 years was also included. A standard thyrotropin releasing hormone test was applied to 3 patients who had high TSH levels and were classified as subclinical primer hypothyroidism. The study was designed according to the Declaration of Helsinki and informed consent was obtained from the parents of all participants. Findings:All thyroid parameters in patients were in the normal ranges compared with the controls except three of them which had high TSH levels. Serum ferritin level (2703±1649 ng/mL in patients was significantly higher than in controls (81.5±15.5 ng/mL. Conclusion:The work implies that hypothyroidism could be even seen in the first decade of life in patients with beta-thalassemia major in spite of improved hematological cares.

Nurcan Beyaz?t

2011-03-01

26

Beta Thalassemia (For Parents)  

Science.gov (United States)

... it results in that type of thalassemia. About Beta Thalassemia Beta thalassemia occurs when the gene that controls ... transport oxygen around the body. Continue Types of Beta Thalassemia There are three types of beta thalassemia, depending ...

27

Ambulatory Blood Pressure Monitoring for Children With Beta–Thalassemia Major: a Preliminary Report  

Directory of Open Access Journals (Sweden)

Full Text Available Introduction. Heart disease is one of the most common reasons of death in beta-thalassemia major. A few studies have been done in children about blood pressure changes. The aim of this study was to assess hemodynamic changes by ambulatory blood pressure monitoring (ABPM. Materials and Methods. In this cross-sectional study, 30 patients with beta-thalassemia major aged 5 to 18 years old were evaluated with 24-hour ABPM. The exclusion criteria were an ejection Fraction less than 50% and a glomerular filtration rate less than 90 mL/min/1.73 m2. Hypertension was defined as a mean blood pressure index of 1 and greater with or without load blood pressure greater than 25%. Dipper status was defined as a 10% decrease in nighttime versus daytime mean arterial blood pressure. Results. High blood pressure was detected in 16.7% of the patients. The whole-day ABPM showed hypertension in 6.7% of the children. During daytime measurements, systolic hypertension was seen in 3.3% (load 3.7% and diastolic in 6.7% (load 3.3%. These figures for nighttime evaluation were 6.7% (load 3.3% and 10.3% (load 6.9%, respectively. Nondipper status was detected in 56.7% of the children. There was no significant correlation between abnormal blood pressure and age, sex, body mass index, hemoglobin, number or rates of blood transfusion, or serum ferritin level. Conclusions. The ABPM may be a useful instrument for early detection of hemodynamic changes in children with beta-thalassemia major.

Morteza Tabatabaie

2013-07-01

28

Nitroblue tetrazolium test in patients with beta-thalassemia major  

International Nuclear Information System (INIS)

Objective to assess the neutrophil function in thalassemia major (TM)patients and compare it with the control group and to recognize its relevantfactors. This was a retrospective cohort study, which was carried out fromOctober 2007 to February 2008 in the Thalassemia research Center in Boo AliSina Hospital in Sari, Mazandaran, North of Iran. The study populationconsisted of TM patients in Boo Ali Sina Teaching Hospital. The method ofsampling in the case group was systematic and it was target based in thecontrol group. The sample size determined was based on previous studies.Thalassemia major was diagnosed based on hemoglobin electrophoresis (casegroup). The control group was their brothers and sisters, who had +-5 yearsof age difference and were of the same gender as the patients. Datacollection was based on interview, investigating demographic characteristicsand also obtaining medical information from medical records of the patients.The neutrophil function was by performing nitroblue tetrazolium (NBT)reduction test. The test was carried out on both groups and the data wereanalyzed by software using SPSS version 13.0. In this study, 39 patients and39 healthy controls were compared. The average age of the patients was21.6+-5.3 years and it was 22.4+-5.1 years in healthy controls (p=0.7). Therewas a significant correlation between the test's results and the patients age(p=0.008). The rate of impaired NBT results in the patients was 36%, while itwas 10% in controls, which were significantly different. The neutrophilactivity based on NBT test was 89.9+-11.6% in the case group and 93.7+-2.51%in the control group (p=0.025). This study indicates that neutrophil activityin thalassemia patients was significantly lower, compared to the normalcontrol group, especially in young patients. Based on the results, evaluationof neutrophil function and pyogenic infections in TM patients seemsnecessary. (author)

29

Noninvasive analysis of skin iron and zinc levels in beta-thalassemia major and intermedia  

Energy Technology Data Exchange (ETDEWEB)

Diagnostic x-ray spectrometry, a method based on x-ray fluorescence analysis, was used for noninvasive determination of iron and zinc in two distinct skin areas, representing predominantly dermal and epidermal tissues, in 56 patients with beta-thalassemia major and intermedia. The mean iron levels in the skin of patients with beta-thalassemia major and intermedia were elevated by greater than 200% and greater than 50%, respectively, compared with control values. The zinc levels of both skin areas examined were within the normal range. The data indicate that the rate and number of blood transfusions, which correlated well with serum ferritin levels (r . 0.8), are not the only factors that determine the amount of iron deposition in the skin (r less than 0.6). Other sources of iron intake contribute to the total iron load in the tissues, particularly in patients who are not given multiple transfusions. The noninvasive quantitation of skin levels may reflect the extent of iron deposition in major parenchymal organs. Repeated DXS examinations of the skin could monitor the clearance of iron from the tissues of patients with iron overload in the course of therapy with chelating agents.

Gorodetsky, R.; Goldfarb, A.; Dagan, I.; Rachmilewitz, E.A.

1985-01-01

30

Noninvasive analysis of skin iron and zinc levels in beta-thalassemia major and intermedia  

International Nuclear Information System (INIS)

Diagnostic x-ray spectrometry, a method based on x-ray fluorescence analysis, was used for noninvasive determination of iron and zinc in two distinct skin areas, representing predominantly dermal and epidermal tissues, in 56 patients with beta-thalassemia major and intermedia. The mean iron levels in the skin of patients with beta-thalassemia major and intermedia were elevated by greater than 200% and greater than 50%, respectively, compared with control values. The zinc levels of both skin areas examined were within the normal range. The data indicate that the rate and number of blood transfusions, which correlated well with serum ferritin levels (r . 0.8), are not the only factors that determine the amount of iron deposition in the skin (r less than 0.6). Other sources of iron intake contribute to the total iron load in the tissues, particularly in patients who are not given multiple transfusions. The noninvasive quantitation of skin levels may reflect the extent of iron deposition in major parenchymal organs. Repeated DXS examinations of the skin could monitor the clearance of iron from the tissues of patients with iron overload in the course of therapy with chelating agents

31

Zinc and Copper Status in Children with Beta-Thalassemia Major  

Directory of Open Access Journals (Sweden)

Full Text Available Objective: There are some reports in which a condition of zinc deficiency and its associated outcomes with a change in concentration of serum copper among the thalassemic patients has been highlighted. The aim of this prospective study was to determine the serum zinc and copper levels in children with beta-thalassemia major.Methods: In this cross sectional study all children under 12 years affected by beta thalassemia major (40 patients were evaluated for serum zinc and copper levels in Qazvin thalassemia center (Qazvin, Iran in 2007. Serum measurements for zinc and copper were performed by atomic absorption spectrophotometer.Findings: The mean concentrations of serum zinc and copper levels were 67.35±20.38 and 152.42±24.17 ?g/dl respectively. Twenty-six (65% of thalassemic patients had zinc concentration under 70 µg/dl (hypozincemia. None of the thalassemic children had copper deficiency. No significant correlation between serum zinc level with age, weight, height, body mass index, duration of blood transfusion, desferrioxamine dose and ferritin level was observed in thalassemic patients (P=0.3.Conclusion: This study revealed that hypozincemia is common in thalassemic patients, but in contrast, there is no copper deficiency. Further evaluation in this regard is recommended.

Hoshyar Mojabi

2010-09-01

32

Zinc and Copper Status in Children with Beta-Thalassemia Major  

Directory of Open Access Journals (Sweden)

Full Text Available Objective:There are some reports in which a condition of zinc deficiency and its associated outcomes with a change in concentration of serum copper among the thalassemic patients has been highlighted. The aim of this prospective study was to determine the serum zinc and copper levels in children with beta-thalassemia major.Methods:In this cross sectional study all children under 12 years affected by beta thalassemia major (40 patients were evaluated for serum zinc and copper levels in Qazvin thalassemia center (Qazvin, Iran in 2007. Serum measurements for zinc and copper were performed by atomic absorption spectrophotometer.Findings:The mean concentrations of serum zinc and copper levels were 67.35?20.38 and 152.42?24.17 ?g/dl respectively. Twenty-six (65% of thalassemic patients had zinc concentration under 70 ?g/dl (hypozincemia. None of the thalassemic children had copper deficiency. No significant correlation between serum zinc level with age, weight, height, body mass index, duration of blood transfusion, desferrioxamine dose and ferritin level was observed in thalassemic patients (P=0.3.Conclusion:This study revealed that hypozincemia is common in thalassemic patients, but in contrast, there is no copper deficiency. Further evaluation in this regard is recommended.

Abolfazl Mahyar

2010-09-01

33

Hepatocytes of donor origin in recipient liver after hematopoietic SCT in beta-thalassemia major patients.  

Science.gov (United States)

BM and circulating cells contain stem cells with the potential to differentiate into mature cells of various organs. We determined whether stem cells transformed into hepatocytes. Biopsy specimens from liver were obtained from 11 patients who had undergone transplantation of hematopoietic stem cells from peripheral blood (eight patients) or BM (three patients). Four female patients had received transplants from a male donor and seven male patients had received transplants from a female donor. All patients had beta-thalassemia major and fibrosis in biopsy specimens from the liver before hematopoietic SCT. Hematopoietic stem cell engraftment was verified by STR analysis. The biopsies were studied for the presence of donor-derived hepatocytes using FISH of interphase nuclei and immunohistochemical staining for CD45 (leukocyte common Ag), and a hepatocyte-specific Ag. All 11 recipients of sex-mismatched transplants showed evidence of complete hematopoietic donor chimerism. XY-positive hepatocytes accounted for 4-6.7% of cells in histological sections of the biopsy specimens of female patients and XX-positive hepatocytes accounted for 3-7% of cells in histological sections of the biopsy specimens of male patients. These cells were detected in liver tissue as early as 1 year and as late as 8.5 years after hematopoietic SCT. BM and circulating stem cells can differentiate into mature hepatocytes in beta-thalassemia major patients who had undergone hematopoietic SCT. PMID:19734948

Mirzania, M; Ghavamzadeh, A; Yaghmaie, M; Sedighi, N; Kamalian, N; Alimoghaddam, K; Ghaffari, S H; Azimi, P; Chahardouli, B

2010-04-01

34

High Prevalence of Hypoparathyroidism in Patients with beta-Thalassemia Major  

Directory of Open Access Journals (Sweden)

Full Text Available "nIntroduction: Hypoparathyroidism (HPT is an irreversible but preventable disorder caused by an iron overload which can be considered a typical complication in patients with beta-thalassemia major. "nPatients and method: Parathyroid function was evaluated in 130 patients in Qom, Iran, who suffered from beta-thalassemia major. Their serum ferritin levels were checked for monitoring of chelation therapy effects. "nResults: The prevalence of HPT was 14.6% (19/130. The median age of patients with HPT was significantly higher than of patients without HPT (18 vs. 15 years; P=0.03. Serum ferritin levels was not significantly different between the two groups (median: 2709 vs. 1512; P=0.95. The prevalence of cardiac diastolic dysfunction in patients with HPT was significantly higher than in normal thalassemic patients (3.1% vs. 15.8%, P=0.04. Patients with hypoparathyroidism demonstrated abnormal glucose metabolism (0% vs. 15.8%; P=0.003. "nConclusion: the high prevalence of hypoparathyroidism demonstrated poor chelation therapy in these patients. Close monitoring of ferritin level was recommended. Also, the measurement of parathyroid hormone on a regular basis for all thalassemic patients was recommended.

Amir Ali Hamidieh

2009-07-01

35

Assessment Hepatomegaly and liver Enzymes in 100 Patients with beta Thalassemia Major in Mashhad, Iran  

Directory of Open Access Journals (Sweden)

Full Text Available AbstractBackgroundFrequent blood transfusion in patients with beta thalassemia major can lead to iron overloadespecially in liver. Chronic iron overload could cause cirrhosis of the liver. Transfusiontransmittedhepatitis B and C also could develop cirrhosis in individuals.Materials and MethodsThe present cross- sectional descriptive study is to assess hepatomegaly and liver enzymes in 100patients with beta thalassemia major, ages between 2-18 years old. The study was carried outretrospectively. One hundred medical records have chosen from 400 samples of thalassemiamajor patients, who are under a regular care of the department of sarvar clinic.ResultsOut of these patients, 55% were male and 45% female. The mean age of thalassemia patients was10.8 4.4 years. The mean and S. D of hemoglobin, ferritin, deferoxamine dosage was 8.5 ±1.5g/dl , 2183 ± 1528 ng , 30 ± 11.16 mg/kg, respectively. Forty six percent of them hadhepatomegaly. The mean and S. D of AST and ALT were 95± 70 IU/L and 70 ±35U/Lrespectively. Splenectomy was performed on 44% of patient.ConclusionHepatomegaly is one of the most common findings in the thalassemic patient that induced withhemosiderosis and hepatitis.

kolagari SH

2012-12-01

36

Frequency of hepatitis B and hepatitis C in multi - transfused beta thalassemia major patients  

International Nuclear Information System (INIS)

To determine the frequency of hepatitis B and C virus infection among children with beta thalassemia major registered at Military Hospital Rawalpindi. Children attending Thalassemia Centre Military Hospital Rawalpindi for regular blood transfusion were registered. They belonged to different ethnic groups and came from different parts of the country. Their demographic data was recorded, detailed history taken and physical examination was carried out. Their serum samples were tested for hepatitis B surface antigen and anti HCV antibody assay with third generation commercial ELISA method. During the study; 141 patients of beta thalassemia major were screened. Out of them 50 patients (35.5% ,95% confidence interval 27.8-43.5)w ere found hepatitis C virus antibody positive and 1 patient (0.7 %) hepatitis B surface antigen positive. One patient (0.7%) had both hepatitis B and C virus infection. Mean age of hepatitis C infected patients was 10.4+3.85y ears (range 2-16 years). Mean age of uninfected patients was 6.1 + 3.59 years. (p value 0.000) In addition, the results indicate that higher prevalence of anti-HCV was significantly associated with longer duration of transfusion (p value <0.003). In spite of the fact that screened blood is used for transfusions, still a large number of patients have been found infected with hepatitis C. Therefore more accurate techniques are required for screening of blood to prevent transfusion associated transmission. (author)

37

Hypoparathyroidism and intracerebral calcification in patients with beta-thalassemia major  

Energy Technology Data Exchange (ETDEWEB)

Background: Hypoparathyroidism is one of the most important endocrine complications of thalassemia major. This study was conducted to evaluate the prevalence of intracerebral calcifications in patients with thalassemia with and without hypoparathyroidism. Methods: 47 beta-thalassemia patients with hypoparathyroidism underwent a brain CT scan to investigate the presence and extent of intracerebral calcification. 30 age- and sex-matched beta-thalassemic patients with normal parathyroid function who had undergone brain CT for headache, or some other minor neurologic problems were also enrolled in the study serving as controls. The amount of intracerebral calcification, hematologic parameters, and some clinical findings were compared between both groups. Results: Intracerebral calcification was present in 54.2% of beta-thalassemia patients with hypoparathyroidism. The most frequent sites of calcification were basal ganglia, and frontoparietal areas of the brain. Thalami, internal capsule, cerebellum and posterior fossa were other less frequently calcified regions of the brain. In contrast, there was no evidence of intracerebral calcifications in the 30 thalassemic patients with normal parathyroid function. There was not a statistically significant difference between serum ferritin concentrations in thalassemia patient with hypoparathyroidism and those with normal parathyroid function (2781 vs. 2178, P > 0.05). Conclusion: Intracranial calcification is a common finding in thalassemia patients with hypoparathyroidism, it can be extensive and involves most regions of the brain.

Karimi, M. [Iran-Shiraz-Namazee Hospital, Namazee Square, Hematology Research Center, Department of Pediatrics, Shiraz University of Medical Sciences, Shiraz (Iran, Islamic Republic of)], E-mail: karimim@sums.ac.ir; Rasekhi, A.R. [Iran-Shiraz-Namazee Hospital, Namazee Square, Imaging Research Center, Department of Radiology, Shiraz University of Medical Sciences, Shiraz (Iran, Islamic Republic of)], E-mail: rasekhia@sums.ac.ir; Rasekh, M. [Iran-Shiraz-Namazee Hospital, Namazee Square, Department of Endocrinology and Metabolism, Shiraz University of Medical Sciences, Shiraz (Iran, Islamic Republic of)], E-mail: Rasekhm@sums.ac.ir; Nabavizadeh, S.A. [Iran-Shiraz-Namazee Hospital, Namazee Square, Imaging Research Center, Department of Radiology, Shiraz University of Medical Sciences, Shiraz (Iran, Islamic Republic of)], E-mail: nabavia@gmail.com; Assadsangabi, R. [Iran-Shiraz-Namazee Hospital, Namazee Square, Imaging Research Center, Department of Radiology, Shiraz University of Medical Sciences, Shiraz (Iran, Islamic Republic of)], E-mail: assadsangabi@yahoo.com; Amirhakimi, G.H. [Iran-Shiraz-Namazee Hospital, Namazee Square, Department of Endocrinology and Metabolism, Shiraz University of Medical Sciences, Shiraz (Iran, Islamic Republic of)], E-mail: amirhakimig@sums.ac.ir

2009-06-15

38

Hypoparathyroidism and intracerebral calcification in patients with beta-thalassemia major  

International Nuclear Information System (INIS)

Background: Hypoparathyroidism is one of the most important endocrine complications of thalassemia major. This study was conducted to evaluate the prevalence of intracerebral calcifications in patients with thalassemia with and without hypoparathyroidism. Methods: 47 beta-thalassemia patients with hypoparathyroidism underwent a brain CT scan to investigate the presence and extent of intracerebral calcification. 30 age- and sex-matched beta-thalassemic patients with normal parathyroid function who had undergone brain CT for headache, or some other minor neurologic problems were also enrolled in the study serving as controls. The amount of intracerebral calcification, hematologic parameters, and some clinical findings were compared between both groups. Results: Intracerebral calcification was present in 54.2% of beta-thalassemia patients with hypoparathyroidism. The most frequent sites of calcification were basal ganglia, and frontoparietal areas of the brain. Thalami, internal capsule, cerebellum and posterior fossa were other less frequently calcified regions of the brain. In contrast, there was no evidence of intracerebral calcifications in the 30 thalassemic patients with normal parathyroid function. There was not a statistically significant difference between serum ferritin concentrations in thalassemia patient with hypoparathyroidism and those with normal parathyroid function (2781 vs. 2178, P > 0.05). Conclusion: Intracranial calcification is a common finding in thalassemia patients with hypoparathyroidism, it can be extensive and involves most regions of the brain.

39

Serum levels of lipids and lipoproteins in Syrian patients with beta-thalassemia major.  

Directory of Open Access Journals (Sweden)

The results might suggest that beta- thalassemia may represent an interesting metabolic model: anemia, an activated macrophage system and defective liver function seem interrelated to the final serum lipoprotein pattern. This suggests that antioxidants counteract lipid peroxidation processes and have a protective effect against oxidative damage of red cells of beta-thalassemia patients.

Faizeh A. Al-Quobaili

2004-07-01

40

Assessment of Hypothyroidism in Children with Beta-Thalassemia Major in North Eastern Iran  

Directory of Open Access Journals (Sweden)

Full Text Available AbstractBackground Hypothyroidism usually appears in the second decade of life and is thought to be associated with iron overload in patients with thalassemia major. This study aimed to evaluate thyroid dysfunctions in patients with beta-thalassemia major.Materials and MethodsThis research is a descriptive – cross sectional study, carried out in 2009 to assess thyroid function in 100 patients with beta thalassemia major at the ages between 2-18 years. The study was carried out retrospectively and 100 medical records from 400 samples of thalassemia major patients, under regular care of Sarvar Clinic, were assessed. Thyroid function and iron load status were evaluated by measuring the serum total triiodothyronine (T4, thyroid-stimulating hormone (TSH and ferritin levels from the serum of patients, admitted to the Sarvar Clinic. TSH and T4 concentrations were estimated by enzyme-linked immunosorbent assay (ELISA. Primary hypothyroidism was defined by a TSH level >4µIU/ml. Results were analyzed by descriptive statistical methods, with the help of SPSS software.ResultsSubclinical hypothyroidism was seen in 7% patients. All of them had normal T4 levels with elevated TSH levels, consistent with a diagnosis of subclinical hypothyroidism. Mean age of hypothyroid patients was 10.2 ± 2.5 years. Frequency of hypothyroidism was associated with increased serum ferritin levels (p=0.037.ConclusionSubclinical hypothyroidism occurs in a significant proportion of thalassaemia major patients in the absence of obvious clinical signs of hypothyroidism. Regular follow-up for early detection and timely treatment of such complications could improve the quality of life of these patients.

Noori R

2012-09-01

 
 
 
 
41

Bone metabolism and mineral density in patients with beta-thalassemia major  

International Nuclear Information System (INIS)

To evaluate bone metabolism in patients with beta-thalassemia major and to determine the factors associated with the development of osteoporosis. We studied 25 patients with thalassemia major with a mean age of 18.4 years (rang 5-31), age and gender matched 24 healthy controls who were attending the outpatient physical medicine and rehabilitation clinic of Akdeniz University Hospital between January 2004 and March 2004 in Turkey. Bone mineral density (BMD) of lumbar spine (L-1-L4) and proximal femur were determined using dual x-ray absorptiometry (DXA). Venous blood samples were obtained for determination of blood cell count and markers of bone formation and resorption. The BMD values, both at lumbar and femoral neck levels were significantly lower in patients compared to controls. Serum N-telopeptide level was slightly higher, whereas osteocalcin was slightly lower in patients, however, the values were not statistically significant. Plasma levels of insulin like growth factor-1 (IGF-I) and insulin like growth factor for binding protein-3 (IGFBP-3) were significantly lower in patients. Also, serum levels of estradiol and progesterone in females, luteinizing, hormone and follicle-stimulating hormone in both genders were significantly lower in patients. Serum levels of free testosterone and total testosterone were lower in patients, but not statistically significant. Patients also had significantly higher serum phosphorous levels and lower serum calcitonin levels compared to controls. The BMD is decreased in thalassemic patients. Growth retardation, growth hormone/IGF-I/IGFP-3 axis dysfunction, gonadal dysfunction and hypothalomo-pituitary-gonadal axis dysfunction may be responsible for the development of osteoporosis in the patients with beta-thalassemia major. (author)

42

The effect of repeated transfusions on immunoglobulins levels and complement components in Beta Thalassemia major patients  

Directory of Open Access Journals (Sweden)

Full Text Available Beta Thalassemia major patients receive repeated transfusions in order to compensate anemia and use desferal to remove iron overload. Comparing immunoglobulins and complement components in the serum of these patients with normal range shows a significant increase (P<0.001 in IgG, IgA and IgM and a decrease in C3c and C4. The regression analysis confirms a relation between the numbers of transfusions and the mentioned immunological factors that means increasing the number of transfusions, increases immunoglobulins and decreases the complement. Also, this evaluation shows that use of washed RBC and regular in take of desferal will prevent excessive increase of immunoglobulins or decrease of complement

Mehrabani K

1996-06-01

43

EVALUATION OF T LYMPHOCYTE SUBSETS IN CHILDREN WITH BETA THALASSEMIA MAJOR  

Directory of Open Access Journals (Sweden)

Full Text Available Peripheral blood T lymphocytes and their subsets were studied in 31 patients with beta thalassemia major (age 2-12years and compared with 14 age-arid sex-matched healthy controls. Three monoclonal antibodies (anti-CD3, anti CD-f, unti-CDS were simultaneously applied for detection of Th (CD3-, CD4^, Tsk (CD3+, CD8+ and Th/Ts ratio by flow-cytometry respectively. The results of this study showed a slight increase in the number of Tlymphocytes, T 004^, TCDS+, and CD4'*/CDS* ratio; but this increase was not statistically significant (P>0.05. No primary defect in Tcell subsets was detected and it was suggested that continuous regulation of iron balance is an important factor in decreasing immunological disturbance.

A. Danesh

1999-07-01

44

Prospects and future of conservative management of beta thalassemia major in a developing country  

International Nuclear Information System (INIS)

Objective: To assess the efficacy, prospects and future of conservative management of beta thalassemia major patients in a developing country. Design: Patients registered at IHBTS were studied over a period of three years. They consented to being managed on moderate transfusion regimen, aiming to maintain a pre-transfusion haemoglobin(Hgb) level of 9.0 plus minus 1.0 g per dL. We studied their transfusion requirements, status for transfusion transmitted infections (TTls), serum ferritin levels and complications developing as a result of iron overload. Subjects: Initially all registered patients were included in this study. Sporadic patients as well as dropouts occurring due to any reason, (patients concurrently seeking treatment at other centres as well, or complying poorly to advised chelation therapy) were excluded from the study. The data presented here conforms to a cohort of 60 regular patients who adhered best to our selection criteria. Main Outcome Measures: 1) The study highlights the deficiencies and problems of conservative management for beta thalassemia major. 2) The major impact of our study is the message that conservative management in a poor country, like ours, is a no-win situation. 3) There is an urgent need to immediately start a prevention programme. Results: In the younger patients, blood consumption even on the moderate transfusion regimen is 120ml/kg/year, however with ascending age the consumption increases to 240ml/kg/year. A substantive number of the patients are either Hep C (35%) or Hep B (1.7%) positive. There are no HIV positive patients. Serum ferritin levels vary widely and could not be controlled due to poor compliance to chelation. 50% of the patients developed one or other complications of iron overload. The cost of treatment depending on the quality of care, is tremendous and beyond the reach of the common man. Conclusions: Conservative management may be the best alternative and at times the only hope for patients in our country. However, in order to decrease the disease load, steps need to be taken to introduce preventive measures. (author)

45

Molecular basis of transfusion dependent beta-thalassemia major patients in Sabah.  

Science.gov (United States)

Beta-thalassemia is one of the most prevalent inherited diseases and a public health problem in Malaysia. Malaysia is geographically divided into West and East Malaysia. In Sabah, a state in East Malaysia, there are over 1000 estimated cases of ?-thalassemia major patients. Accurate population frequency data of the molecular basis of ?-thalassemia major are needed for planning its control in the high-risk population of Sabah. Characterization of ?-globin gene defects was done in 252 transfusion dependent ?-thalassemia patients incorporating few PCR techniques. The study demonstrates that ?-thalassemia mutations inherited are ethnically dependent. It is important to note that 86.9% of transfusion-dependent ?-thalassemia major patients in Sabah were of the indigenous population and homozygous for a single mutation. The Filipino ?(0)-deletion was a unique mutation found in the indigenous population of Sabah. Mutations common in West Malaysia were found in 11 (4.3%) patients. Four rare mutations (Hb Monroe, CD 8/9, CD 123/124/125 and IVS I-2) were also found. This study is informative on the population genetics of ?-thalassemia major in Sabah. PMID:24369358

Teh, Lai Kuan; George, Elizabeth; Lai, Mei I; Tan, Jin Ai Mary Anne; Wong, Lily; Ismail, Patimah

2014-03-01

46

Frequency of Sensory Neural Hearing Loss in Major Beta-Thalassemias in Southern Iran  

Directory of Open Access Journals (Sweden)

Full Text Available Objective:The thalassemias are among the most common genetic disorders worldwide, occurring more frequently in the Mediterranean region. The aim of this study was to determined frequency of sensory-neural hearing loss in major ß- thalassemias transfusion dependent patients in south of Iran.Methods:A cross sectional study on 308 cases of major beta-thalassemia patients referring to Thalassemia Center of Shiraz University of Medical Sciences between 2006-2007 years. The diagnosis of ß- thalassemia major was based on clinical history, complete blood count and hemoglobine electrophoresis. Clinical data such as serum ferritin level, deferoxamine (DFO dose, mean daily doses of DFO (mg/kg and audiometric variables was recorded.Findings:Out of 308 cases, 283 (96.5% had normal hearing and 10 (3.5% sensorineural hearing loss. There was no statically significant difference between two groups regarding mean age, weight, age at the first blood transfusion, age at the first DFO infusion.Conclusion:We found the lowest incidence of sensorineural hearing loss in a large population of patients suffered from major thalassemia who received DFO. We show that DFO is not ototoxic at a low dose. When considering all related literature, as a whole there has been much critical misrepresentation about DFO ototoxicity.

Abolhassan Faramarzi

2010-09-01

47

Frequency of Sensory Neural Hearing Loss in Major Beta-Thalassemias in Southern Iran  

Directory of Open Access Journals (Sweden)

Full Text Available Objective:The thalassemias are among the most common genetic disorders worldwide, occurring more frequently in the Mediterranean region. The aim of this study was to determined frequency of sensory-neural hearing loss in major ß- thalassemias transfusion dependent patients in south of Iran. Methods:A cross sectional study on 308 cases of major beta-thalassemia patients referring to Thalassemia Center of Shiraz University of Medical Sciences between 2006-2007 years. The diagnosis of ß- thalassemia major was based on clinical history, complete blood count and hemoglobine electrophoresis. Clinical data such as serum ferritin level, deferoxamine (DFO dose, mean daily doses of DFO (mg/kg and audiometric variables was recorded. Findings:Out of 308 cases, 283 (96.5% had normal hearing and 10 (3.5% sensorineural hearing loss. There was no statically significant difference between two groups regarding mean age, weight, age at the first blood transfusion, age at the first DFO infusion. Conclusion:We found the lowest incidence of sensorineural hearing loss in a large population of patients suffered from major thalassemia who received DFO. We show that DFO is not ototoxic at a low dose. When considering all related literature, as a whole there has been much critical misrepresentation about DFO ototoxicity.

Seyed-Taghi Heydari

2010-09-01

48

Psychological Aspects in Young Adults with Beta-Thalassemia Major, control group  

Directory of Open Access Journals (Sweden)

Full Text Available Background and purpose: Beta-thalassemia major (TM, a chronic, genetically determined hematological disorder, has received little investigation on the psychological aspects of the disease and the psychosocial adjustment of patients with this anemia. In the present study, the aim was to explore the nature of psychopathology according to age, sex, school performance, severity and complications of the disease in TM patients compared with demographically matched healthy persons.Materials and Methods: A controlled anterograde cohort study was conducted at the Thalassemia Unit of Boo-Ali Hospital from June 2003 to November 2005 in Sari, Iran. Psychological aspects were evaluated by the Persian version of symptoms checklist-90-revised questionnaire. Information on relevant demographic characteristics, school performance, severity and complications of the disease was collected by one of the investigators who had created the questionnaire.Results: 125 persons with TM completed the questionnaires and were compared with 125 controls and 250 totally. The mean age of the participants was 18.51± 2.0 years and with a range of 15-25 years. 132 (52.8% were female with equal family status, social and economic status. Patients group reported a significantly lower level of marital status (P<0.01, education level (P<0.0001, school performance (P<0.0001. TM patients were found to have significantly more psychiatric disorders than the control subjects with GSI: 1.16 ± 0.47 vs. 1.01 ± 0.6; (P<0.03, PSD: 54.99 ± 12.59 vs. 46.42 ± 18.76 (P<0.0001, and PSDI 2.02±1.02 vs 2.45 ± 2.22 (P<0.05. We recorded significant changes in the mean scores of somatization (P<0.0001, interpersonal sensitivity (P<0.0001, depression (P<0.003, anxiety (P<0.05 and psychoticism (P<0.03 in the TM patients as compared to the control subjects.Conclusion: These findings show that beta-thalassemia major patients are at risk for psychiatric symptomatology and need appropriate psychiatric consultation.

S. H. Hosseini, M.D.

2007-09-01

49

Evaluation of Mental Health and Related Factors Among Patients with Beta-Thalassemia Major in South East of Iran  

Directory of Open Access Journals (Sweden)

Full Text Available Objective: Beta-thalassemia major (?-TM is a chronic, genetic and hematological disorder. Children and teenagers with chronic physical illnesses exemplified by thalassemia are vulnerable to emotional and behavioral problems. The aim of this study was to evaluate mental health and its related factors among young patients with beta-thalassemia major. Methods: In this cross-sectional observational descriptive-analytic study, we studied 164 patients suffering from Beta-thalassemia major with age range of 15-24 years who referred for treatment to Ali Ebn-e Abitaleb (AS University Hospital in Zahedan, a city in South East of Iran, during 2009- 2010. The demographic data and pattern of mental health were collected by standard general health questionnaire (GHQ-28.Data was analyzed using statistical software SPSS (version 17.0; Student t test and Chi-square (?2 were used. Results: In this study, 96 (58.5% patients were male; the mean age of all patients was 18.78 ±2.28. Based on data analysis, 83 patients (50.8% suspected to have psychiatric disorders (58.8% of girls, 44.8% of boys. In addition, frequency of somatic symptoms, depression disorder, anxiety disorder and social dysfunction in all patients were 7.3%, 11.6%, 8.5% and 4.3% respectively. In illiterate patients, 70.4% suspected to have psychiatric disorder. Except for somatic disorder, other mental disorders were more frequent in girls. No significant association was found between mental state and gender, marital and literacy status and occupation. Conclusion : In this study, due to high prevalence of psychological disorders in young patients with Beta-thalassemia major, especially in girls, we suggest implementing further educational psychological programs to decrease the frequency of disorders. Moreover, conducting more quantitative and comprehensive researches is suggested to evaluate specific effective factors in psycho-social health.

Morteza Ashrafi

2012-04-01

50

Abdominal Ultrasonographic Findings in Beta Thalassemia Major Patients in North of Iran  

Directory of Open Access Journals (Sweden)

Full Text Available Background and Objective: High prevalence of tha-lassemia in the North of Iran is a major challenge of medical practitioners in this area. To investigate the prevalence of abdominal ultrasound findings in these patients, the present study was conducted. Materials and Methods: Two hundred patients (92 girls and 108 boys, all suffering from Beta thalas-semia major with a mean age of 14.5 years (ranging from 5 to 34 years were included in the study. Ab-dominal ultrasound examination was performed by two radiologists between 2001 and 2005 to detect sonographic findings in these patients. Results: Hepatomegaly was presented in 75% of these patients and splenomegaly was detected in 46% of them while 45% of cases had undergone splenec-tomy. Total incidence of gall bladder stone formation was 14% (15.5% in females and 11.9% in males and it had a direct correlation with the patients’ age. Lymphadenopathy of portohepatic and celiac area was detected in 138 (68% patients. In 4 patients ul-trasound revealed portal vein thrombosis whereas in the other 4 cases, splenic extramedullary hematopoi-esis was detected. Conclusion: This study revealed that a remarkable portion of patients had developed these complica-tions. Authors suggest ultrasound to be a part of rou-tine examinations in beta thalassemia major patients who receive multiple transfusions.

R. Abdi

2007-05-01

51

The pancreas in {beta}-thalassemia major: MR imaging features and correlation with iron stores and glucose disturbunces  

Energy Technology Data Exchange (ETDEWEB)

The study aims at describing the MR features of pancreas in beta-thalassemia major, investigating the relations between MR findings and glucose disturbances and between hepatic and pancreatic siderosis. Signal intensity ratios of the pancreas and liver to right paraspinous muscle (P/M, L/M) were retrospectively assessed on abdominal MR imaging studies of 31 transfusion-dependent patients with beta-thalassemia major undergoing quantification of hepatic siderosis and 10 healthy controls, using T1- (120/4/90), intermediate in and out of phase - (120/2.7, 4/20), and T2*-(120/15/20) weighted GRE sequences. Using the signal drop of the liver and pancreas on opposed phase images, we recorded serum ferritin and results of oral glucose tolerance test (OGTT). Decreased L/M and P/M on at least the T2* sequence were noticed in 31/31 and 30/31 patients, respectively, but no correlation between P/M and L/M was found. Patients with pathologic OGTT displayed a higher degree of hepatic siderosis (p < 0.04) and signal drop of pancreas on opposed phase imaging (p < 0.025), implying fatty replacement of pancreas. P/M was neither correlated with glucose disturbances nor serum ferritin. Iron deposition in the pancreas cannot be predicted by the degree of hepatic siderosis in beta-thalassemia major. Fatty replacement of the pancreas is common and may be associated with glucose disturbances. (orig.)

Papakonstantinou, Olympia [University Hospital of Heraklion, Medical School of Crete, Department of Radiology, Heraklion, Crete (Greece); Attikon Hospital, 2nd Department of Radiology, Athens (Greece); Ladis, Vasilios; Kostaridou, Stavroula; Berdousi, Helen; Kattamis, Christos [Thalassemia Unit, University of Athens, ' ' Aghia Sophia' ' Children' s Hospital, Athens (Greece); Maris, Thomas; Gourtsoyiannis, Nicholas [University Hospital of Heraklion, Medical School of Crete, Department of Radiology, Heraklion, Crete (Greece)

2007-06-15

52

Prevalence of Hepatitis C and Related Factors among Beta-Thalassemia Major Patients in Southern Iran in 2005-2006  

Directory of Open Access Journals (Sweden)

Full Text Available The purpose of this study was to assess of hepatitis C and related factors among beta-thalassemia patients. In 2005-5006 a cross sectional study was conducted in Dastgheib hospital, Shiraz, Iran. Participants were all beta-thalassemia major patients (806 cases. Blood samples were taken from patients and HCVAb was determined using commercial Kit. The data collected using a questionnaire consists on demographic and treatment related variables. Data were analyzed using chi-square test. The subjects were 400 (49.6% females and 406 (50.4% males. Thirty-two patients (3.9% were more than 30 years old and 372 (46.1% were less than 15 years old. Prevalence of this infection among males and females was 12.8 and 16%, respectively. No significant difference was seen between males and females regarding prevalence of hepatitis C (p = 0.15. The prevalence of hepatitis C was statistically correlated with type of transfused blood and blood group of patients (p = 0.05. The findings showed that despite blood screening to prevent hepatitis C, prevalence of this infection was higher among Beta-thalassemia major patients. Thus, careful screening and healthy blood transfusion is too important. It must be mentioned that packed red blood cell should be inspected with great attention and probably O blood group predispose the patients to HCV infection.

H. Ansari

2007-01-01

53

Dental and Periodontal Health Status of Beta Thalassemia Major and Sickle Cell Anemic Patients: A Comparative Study  

Science.gov (United States)

Background: This study aimed to assess the dental and periodontal health status of beta thalassemia major and sickle cell anemic patients in Bilaspur, Chattishgarh, India. Materials & Methods: A total of 750 patients were included in the study. The patients were randomly divided into three groups I (n=250), II (n=250) and III (n=250), ranging from 3-15 years. After performing a thourough general examination, including their demographic data, intraoral examination was done using Decayed-Missing-Filled Teeth Index (DMFT Index), Plaque index (PI) and Gingival index (GI). Statistical analysis was done using statistical software SPSS 17.5 version. Chi square test & student t test was used for the comparison of study and control groups. The level of significance was set at Pprevalence of dental caries and periodontal diseases was significantly more in beta thalassemic patients followed by sickle cell anemic patients than control group. However, when group I (beta thalassemia) was compared with group II (sickle cell anemia), results were found to highly significant (P<0.001) only for decayed missing filled tooth. Conclusion: Appropriate dental and periodontal care improves a patient's quality of life. Preventive dental care is must for thalassemic and Sickle cell disease patients. How to cite this article: Singh J, Singh N, Kumar A, Kedia NB, Agarwal A. Dental and Periodontal Health Status of Beta Thalassemia Major and Sickle Cell Anemic Patients: A Comparative Study. J Int Oral Health 2013; 5(5):53-8. PMID:24324305

Singh, Jaideep; Singh, Nitin; Kumar, Amit; Kedia, Neal Bharat; Agarwal, Anil

2013-01-01

54

Hypoparathyroidism and Intracerebral Calcifications in Patients with Beta-Thalassemia Major  

Directory of Open Access Journals (Sweden)

Full Text Available Background/Objective: Hypoparathyroidism is one of the most important endocrine complications of thalassemia major. This study was conducted to evaluate the prevalence of intracerebral calcifications in patients with thalassemia with and without hypoparathyroidism."nPatients and Methods: Forty-seven beta-thalassemia patients with hypoparathyroidism underwent a brain CT scan to investigate the presence and extent of intracerebral calcifications. Thirty age and sex-matched beta-thalassemic patients with normal parathyroid function who had undergone brain CT for headache, or some other minor neurologic problems were also enrolled in the study as control group. The amount of intracerebral calcifications, hematologic parameters, and some clinical findings were com-pared between both groups."nResults: Intracerebral calcification was present in 54.2% of beta -thalassemai patients with hypoparathyroidism. The most frequent sites of calcification were basal ganglia, and frontoparietal areas of the brain. Thalami, internal capsule, cerebellum and posterior fossa were other less frequently calcified regions of the brain. Conversely intracerebral calcification was not seen in the 30 thalassemia patients with normal parathyroid function. There was not a statistically significant difference between serum ferritin concentrations in thalassemia patients with hy-poparathyroidism and those with normal parathyroid function (2781 vs. 2178, P>0.05."nConclusion: Intracranial calcification is a common finding in thalassemia patients with "nhypoparathyroidism. It can be extensive and involves most regions of the brain.

A. Nabavizadeh

2008-01-01

55

The survival analysis of beta thalassemia major patients in South East of Iran  

International Nuclear Information System (INIS)

The objective was to determine the survival of beta-thalassemia major patients with transfusion, and its related factors in Southeast of Iran. This cross-sectional study was performed in Zahedan, Iran in 2007. The sample included patients who were referred from all over the Zahedan Thalassemia Center from 1998 to 2006. The data were collected using the patient's records, which were recorded by the staff during transfusion. The data included demographic and medical information blood group, blood RH, the kind of transfused blood [KTB], annual number of transfusions [ANOT], accompanied disease [AD], Hemoglobin [Hb] and ferritin level. For data analysis, the Kaplan-Meyer method, and Long Rank test together with Cox Regression were used. Forty-six of 578 patients died and 99% survived for the first year. The ages survival proportions were 5 (97.9%), 10 (97%), 15 (92.1%), and 20 (81.2%) years. The survival time showed significant relationships with the ANOT p=0.0053, KTB p=0.003, Hb=0.002 and ferritin level p=0.0087, and AD p=0.00. Using regular transfusion, paying attention to screening of transfused blood, increasing the families knowledge on the disease to prevent the bearing of thalassemia fetus, are recommended; finally, the detection and treating of the AD, are of great importance to extend the lifetime of the patients. (author)

56

Resolution of alloimmunization and refractory autoimmune hemolytic anemia in a multi-transfused beta-thalassemia major patient.  

Science.gov (United States)

Beta-thalassemia is one of the most prevalent autosomal disorders, which affect more than 400,000 newborn per year worldwide. In India, the carrier rate of beta-thalassemia varies from 3-17%. The overall rate of alloimmunization in thalassemia patients has been reported to be 5-30% in the world, which is mostly contributed by the alloimmunization to minor blood group antigen. Among Asians, the incidence of red cell alloimmunization is 22%. The recommended treatment for beta-thalassemia major is regular blood transfusion every 3 to 4 weeks. The development of anti-red cell antibodies (alloantibodies and/or autoantibodies) can significantly complicate transfusion therapy. Alloantibodies are commonly associated with red cell hemolysis. Red cell autoantibodies appear less frequently, but they can result in clinical hemolysis called autoimmune hemolytic anemia (AIHA), and in difficulty in cross-matching blood. Patients with autoantibodies may have a higher transfusion rate and often require immunosuppressive drugs or alternative treatments including intravenous immunoglobulin (IVIg) and rituximab (anti-CD20 monoclonal antibody). PMID:25161355

Philip, Joseph; Jain, Neelesh

2014-07-01

57

Assessment of diastolic function in children and adolescents with beta-thalassemia major by tissue Doppler imaging - Original Article  

Directory of Open Access Journals (Sweden)

Full Text Available Aim: The purpose of this study was to analyze myocardial diastolic function in patients with beta-thalassemia major before development of overt cardiomyopathy using pulsed wave tissue Doppler imaging, and compare data with conventional Doppler echocardiography.Material and Method: The study included 61 beta-thalassemia major subjects (age 4 to 20 years; mean age, 10.7±4.1 years; 32 females and 29 males with normal left ventricular function and 52 healthy control subjects, matched for age and sex. All participants underwent M-mode echocardiography and left ventricular systolic function was measured; diastolic functions of the right and left ventricul were analysed using tissue Doppler imaging and conventional Doppler echocardiography. SPSS for Windows 13.0 software programme was used for statistical analysis, and the student’s t-test was used to compare data. This study was approved by the ethics committee of the ?stanbul Medical Faculty.Results: Body surface area was significantly smaller in the patients than in the controls (1.0±0.2 vs. 1.2±0.3 m2, p0.05. In patients with beta-thalassemia major, the early diastolic velocities of the myocardium at the base of the left and right ventricle, at the middle segment of the left and right ventricle, and the interventricular septum were found to be higher than controls (p<0.05. We also found significantly higher late diastolic velocities at the base and middle segments of right ventricle, early and late diastolic velocities ratio at the base of the right ventricle and at the middle segment of the left and right ventricle, and the interventricular septum compared with controls (p<0.05.Conclusions: These findings acquired from the young aged beta-thalassemia major patients with normal ventricular systolic function were believed to be results from high preload and hyperdynamic response to chronic anemia rather than true ventricular restriction. We suggest that long-term follow-up studies should be carried out in patients with beta-thalassemia major using tissue Doppler in order to evaluate the diagnostic accuracy of this imaging technique in diagnosis of early stages of cardiac involvement. (Turk Arch Ped 2011; 46: 26-32

Taner Yavuz

2011-03-01

58

Quality of life among children with beta-thalassemia major treated in Western Saudi Arabia  

Directory of Open Access Journals (Sweden)

Full Text Available Objectives: To assess the quality of life among children and adolescents with thalassemia major. Methods: This cross-sectional study used the Pediatric Quality of Life Inventory (PedsQL. Children and adolescents with beta-thalassemia major who attended the Day Care Unit at King Abdulaziz University Hospital, Jeddah, Saudi Arabia from October 2012 to February 2013 were surveyed. The questions highlighted 4 health status scales, namely physical functioning (PF, emotional functioning (EF, school performance (SC, and social functioning (SF. Scores were calculated for each patient and data were analyzed using the Statistical Package for Social Sciences. Results: We recruited 46 children (60.9% males. The median age of the sample was 12 years (range, 2-18 years. Most patients (84.8% had 3 weekly blood transfusions. The mean±SD physical functioning (PF score was 57.2±25.9; the EF score was 74.1±20.3, SF  score was 78.5±24, and SC score was 54.3±24.2. The PF score was significantly lower in patients with a family history of thalassemia (p=0.003, and in those whose families had low incomes (p=0.049. Conversely, the SF score was significantly higher in school-educated patients (p=0.01. Conclusion: The quality of life of thalassemic children is affected by multiple factors, such as family income and a family history of thalassemia. Education appeared to increase patient functionality. Supportive measures could improve the quality of life in thalassemic patients. 

Mohammed D. Ayoub

2013-12-01

59

Side effects of Deferasirox Iron Chelation in Patients with Beta Thalassemia Major or Intermedia  

Directory of Open Access Journals (Sweden)

Full Text Available Objectives: Chelating agents remain the mainstay in reducing the iron burden and extending patient survival in homozygous beta-thalassemia but adverse and toxic effects may increase with the institution and long term use of this essential therapy. This study aimed to estimate the incidence of deferasirox (DFX side effects in patients with thalassemia major or intermedia.Methods: A retrospective study of 72 patients (mean age: 20.3±0.9 yrs; 36 male, 36 female with thalassemia major or intermedia treated at Sultan Qaboos University Hospital, Oman, was performed to assess the incidence of side effects related to deferasirox over a mean of 16.7 month follow-up period.Results: Six patients experienced rashes and 6 had gastro-intestinal upset. DFX was discontinued in 18 patients for the following reasons: persistent progressive rise(s in serum creatinine (7 patients; 40% mean serum creatinine rise from baseline, feeling unwell (2, severe diarrhea (1, pregnancy (1, death unrelated to chelator (2 and rise in serum transaminases (2. Three patients were reverted to desferoxamine and deferiprone combination therapy as DFX was no longer biochemically effective after 18 months of therapy. There was no correlation between baseline serum ferritin and serum creatinine or a rise in serum creatinine. Cardiac MRI T2* did not change with DFX therapy. However, there was an improvement in liver MRI T2* (p=0.013.Conclusion: Renal side effects related to deferasirox appear to be higher than those reported in published clinical trials. Further larger studies are required to confirm these findings.

Murtadha Al-Khabori

2013-03-01

60

Endocrine dysfunction and growth retardation assessment in children with beta -thalassemia major  

International Nuclear Information System (INIS)

Children suffering from beta-thalassemia major are reported to have endocrine abnormalities and growth retardation. This study was carried out to study the cause of their growth retardation and determine the extent and rate of endocrine complications. Twenty beta-thalassemic major pubertal children, with mean baemoglobin and ferritin concentration of 8.8±0.6 and 3.597± 1.931, respectively, and twenty pubertal control children were used in the study. The anthropometric measurements that carried out revealed significant low growth rate in patient groups in comparison with control. Patients divided into two groups; I) D-thal with delayed growth and II) S-thal with stunted growth. Basal serum thyoid hormones (T3 and T4) and thyroid stimulating hormone (TSH) were measured in patient groups and control group. T3 showed highly significant decrease (P4 showed non-significant change and TSH showed highly significant increase (P<0.001). Serum growth hormone showed significant lower concentrations in patient groups with values of 2.163±0.9 ng/ml, (P<0.01) and 1.832±1.9ng/ml, (P<0.01) for delayed growth thalassemic group (D-thal) and stunted growth thalassemic group (S-thal), respectively. Serum concentration of insulin growth factor-1 (IGF-1) hormone was studied. D-thal and S-thal had significant lower basal IGF-1 concentrationsof-58.44% (P<0.001) for D-thal and -64.37%, (P<0.001) for S-thal

 
 
 
 
61

A Study of Leptin Serum Concentrations in Patients with Major Beta-Thalassemia  

Directory of Open Access Journals (Sweden)

Full Text Available AbstractBackground The aim of this study was to evaluate leptin serum levels in patients with major beta thalassemia which was also associated with their ferritin serum levels. Materials and MethodsThis case-control study was performed on 90 children -6 months to 16 years old, in Zabol, Amir- al- Momenin Hospital. Patients were divided in two groups and were matched in age and sex. All Children were examined and those eligible children who had not known heart disease, iron deficiency anemia, kidney disease, diabetes, fever and systemic diseases were enrolled after taking the informed consent of their parents. After collecting the samples, leptin and ferritin levels of the serum were measured in two groups by ELISA method. Then, the data was analyzed by the related statistical tests and SPSS 20 software.ResultsThe mean of the serum levels of leptin and ferritin showed a significant difference in the case and control groups (P-value<0.05. An inverse statistical correlation was found for the serum levels of leptin and ferritin among the studied groups (P-value<0.05. Levels of leptin in the case group showed a significant gender difference (P-value<0.05, while based on BMI and age, no significant difference was observed for the serum levels of leptin in the case group.ConclusionBased on the results of this study, major thalassemia reduces serum levels of leptin regardless of age and body mass. The study also found an inverse statistical correlation between serum levels of leptin and ferritin among the studied people.

Shahramian I MD

2013-06-01

62

Side effects of Deferasirox Iron Chelation in Patients with Beta Thalassemia Major or Intermedia  

Science.gov (United States)

Objectives Chelating agents remain the mainstay in reducing the iron burden and extending patient survival in homozygous beta-thalassemia but adverse and toxic effects may increase with the institution and long term use of this essential therapy. This study aimed to estimate the incidence of deferasirox (DFX) side effects in patients with thalassemia major or intermedia. Methods A retrospective study of 72 patients (mean age: 20.3±0.9 yrs; 36 male, 36 female) with thalassemia major or intermedia treated at Sultan Qaboos University Hospital, Oman, was performed to assess the incidence of side effects related to deferasirox over a mean of 16.7 month follow-up period. Results Six patients experienced rashes and 6 had gastro-intestinal upset. DFX was discontinued in 18 patients for the following reasons: persistent progressive rise(s) in serum creatinine (7 patients; 40% mean serum creatinine rise from baseline), feeling unwell (2), severe diarrhea (1), pregnancy (1), death unrelated to chelator (2) and rise in serum transaminases (2). Three patients were reverted to desferoxamine and deferiprone combination therapy as DFX was no longer biochemically effective after 18 months of therapy. There was no correlation between baseline serum ferritin and serum creatinine or a rise in serum creatinine. Cardiac MRI T2* did not change with DFX therapy. However, there was an improvement in liver MRI T2* (p=0.013). Conclusion Renal side effects related to deferasirox appear to be higher than those reported in published clinical trials. Further larger studies are required to confirm these findings. PMID:23599881

Al-Khabori, Murtadha; Bhandari, Sunil; Al-Huneini, Mohammed; Al-Farsi, Khalil; Panjwani, Vinodh; Daar, Shahina

2013-01-01

63

Anxiety, depression and quality of life in patients with beta thalassemia major and their caregivers.  

Science.gov (United States)

Mental health and health related quality of life is commonly affected in patients with chronic problems and their caregivers. In the present study, it was aimed to assess depression and anxiety in patients with beta thalassemia major (BTM) and in their caregivers; and to evaluate effects of these disorders on quality of life. The study was carried out in a district Hereditary Hemoglobinopathy Center and included 88 patients with BTM and 63 of their caregivers. All subjects were assessed using Beck Depression Inventory (BDI), Beck Anxiety Inventory (BAI) and Short Form-36 (SF-36) by a trained psychiatry resident via face-to-face interview. The BDI scores were 17 or above in 20.5% of the patients with BTM and 28.6% of their caregivers (P = 0.248). Of the patients with BTM, there were mild anxiety symptoms in 19.3%, while moderate and severe anxiety symptoms in 14.8% and 4.5%, respectively. Anxiety levels were similar between the patients with BTM and their caregivers (P = 0.878). It was found that BDI and BAI scores were negatively correlated to scores of physical health and mental health components of SF-36 in patients with BTM and their caregivers. In linear regression analysis, it was seen that depression affected physical and mental health of the patients with BTM and their caregivers regardless from anxiety. BTM leads an increase in the frequency of depression and anxiety in both patients and their caregivers, and affects negatively physical and mental components of quality of life. PMID:25232402

Yengil, Erhan; Acipayam, Can; Kokacya, Mehmet Hanifi; Kurhan, Faruk; Oktay, Gonul; Ozer, Cahit

2014-01-01

64

Endocrinopathies in Turkish children with Beta thalassemia major: results from a single center study.  

Science.gov (United States)

The endocrinological complications in ?-thalassemia major patients do affect the life quality to a large extend. In this study, the endocrinological complications of 47 ?-thalassemia patients, who have been followed-up at our hospital's pediatric hematology department, were evaluated. Out of ?-thalassemia major cases included to this study, the 55.3% was male and 44.7% was female. The patients' mean levels of ferritin, whose mean age was 10.0 ± 4.5 years (2-20 years), were 2497 ± 1469 ng/mL (472-8558 ng/mL). At least one endocrinological pathology in 27 out of 47 (57.4%) and more than one endocrinological pathology in 14 out of 47 (29.7%) thalassemia patients were observed. The most frequently observed complication in followed-up cases was vitamin D insufficiency and deficiency (78.2%). The other complications in decreasing order were pubertal failure (41.6%), growth retardation (25.5%), decreased bone-mineral density (22.2%), secondary hyperparathyroidism (11.5%), overt hypothyroidism (4.25%), subclinical hypothyroidism (2.12%), and impaired glucose tolerance (2.12%). There was no statistically significant difference between serum mean ferritin level and endocrin complications (P > .05). Four patients (8.5%) had decreased signal intensity in pituitary magnetic resonance imaging (MRI) but this finding was not associated with ferritin levels (P = .87). MRI parameters were similar between patients with and without gonadal dysfunction. Mean height of the pituitary gland was 4.98 ± 1.1 mm (3-9 mm) and this was similar to those normal values in the literature. Ferritin levels were not correlated with pituitary height (P > .05). Beta thalassemia major, having the potential of leading to multisystemic complications, is a chronic disease that should be treated and followed-up by a multidisciplinary approach. Due to frequently encountered endocrinological complications, beta thalassemic patients should be followed-up regularly by hematology and endocrinology departments in coordination. PMID:24854890

Isik, Pamir; Yarali, Nese; Tavil, Betül; Demirel, Fatma; Karacam, Gül?ah Bayram; Sac, Rukiye Unsal; Fettah, Ali; Ozkasap, Serdar; Kara, Abdurrahman; Tunc, Bahattin

2014-10-01

65

Pituitary gland height evaluated by MR in patients with {beta}-thalassemia major: a marker of pituitary gland function  

Energy Technology Data Exchange (ETDEWEB)

In transfusion-dependent {beta}-thalassemia major, increased iron deposition in the pituitary gland has a cytotoxic effect leading mainly to hypogonadotropic hypogonadism. Our purpose was to assess in these patients the height of the pituitary gland and to evaluate whether it represents a marker of pituitary gland function. In 29 patients with {beta}-thalassemia major and 35 age- and gender-matched controls the pituitary gland height was evaluated in a midline sagittal scan using a spin echo T1-weighted (500/20 TR/TE) sequence. In all patients, an extensive endocrine evaluation was performed, including measurements of spontaneous and stimulated levels of gonadotropins, thyroid hormones, growth hormone, insulin-like growth factor, and adrenal hormones. The pituitary gland height was lower in thalassemic patients with hypogonadotropic hypogonadism (n=15) (mean 3.48; SD 0.46) than in the age- and gender-matched controls (mean 6.29; SD 0.77), (P<0.001). No statistically significant difference was found between thalassemic patients without hormone dysfunction (n=14) (mean 5.34; SD 1.52) and age- and gender-matched controls (mean 5.91; SD 1.06). We conclude that in thalassemic patients the pituitary gland height is an additional marker of pituitary gland function and might be useful in clinical management. (orig.)

Argyropoulou, M.I.; Metafratzi, Z.; Efremidis, S.C. [Dept. of Radiology, Univ. of Ioannina (Greece); Kiortsis, D.N. [Dept. of Physiology, Univ. of Ioannina (Greece); Bitsis, S.; Tsatoulis, A. [Dept. of Internal Medicine, Univ. of Ioannina (Greece)

2001-12-01

66

Genetics Home Reference: Beta thalassemia  

Science.gov (United States)

... gov Research studies OMIM Genetic disorder catalog Conditions > Beta thalassemia On this page: Description Genetic changes Inheritance Diagnosis ... names Glossary definitions Reviewed July 2009 What is beta thalassemia? Beta thalassemia is a blood disorder that reduces ...

67

Study of beta-Thalassemia mutations using the polymerase chain reaction-amplification refractory mutation system and direct DNA sequencing techniques in a group of Egyptian Thalassemia patients.  

Science.gov (United States)

The aim of this study was the molecular characterization of beta-thalassemia (thal) mutations in a group of 95 Egyptian thalassemic patients from Fayoum in Upper Egypt, Cairo, Alexandria and Tanta in Lower Egypt and the Nile Delta. To identify these anomalies, the polymerase chain reaction-amplification refractory mutation system (PCR-ARMS) technique was used, complemented by direct DNA sequencing for uncharacterized cases. In 80 of the 95 patients, the beta-thal mutation was detected by PCR-ARMS. The most common allele encountered in our study was IVS-I-6 (T-->C) (36.3%); the second most common mutation was IVS-I-110 (G-->A) (25.8%). In addition, we report three homozygous cases for the promoter region -87 (C-->G) allele with a frequency of 3.2%. DNA sequencing of uncharacterized cases (14 cases, 15 alleles) revealed six cases (six alleles) of codon 27 (G-->T), and three cases (three alleles) of the IVS-II-848 (C-->A) mutation. Codon 37 (G-->A) in the homozygous state was found in one patient with positive consanguinity. The frameshift codon 5 (-CT) mutation was detected in two of our uncharacterized cases. The codon 15 (TGG-->TGA) mutations was detected in one patient (one allele, 0.5%). All studied cases were fully characterized by this strategy. Screening for beta-thalassemic mutations using ARMS-PCR for the seven most frequent alleles in Egypt succeeded in determining the beta-globin genotype in 84.2% of our patients (91.6% of the expected alleles). To improve the efficiency of routine screening, the PCR-ARMS mutation panel should be updated to include the reported rare alleles. Direct DNA sequencing is an additional way to allow a full characterization of beta-thal patients in the Egyptian population. PMID:17365006

El-Gawhary, Somaia; El-Shafie, Shahira; Niazi, Manal; Aziz, Mona; El-Beshlawy, Amal

2007-01-01

68

Phase II clinical evaluation of deferasirox, a once-daily oral chelating agent, in pediatric patients with beta-thalassemia major  

Digital Repository Infrastructure Vision for European Research (DRIVER)

BACKGROUND AND OBJECTIVES: Deferasirox (ICL670) is a novel once-daily oral iron chelator developed for the treatment of chronic iron overload from blood transfusions. This study evaluated the safety and tolerability of deferasirox in pediatric patients with transfusion-dependent beta-thalassemia major. Efficacy and pharmacokinetic assessments were secondary objectives. DESIGN AND METHODS: Forty patients equally stratified into two age groups--children (2 to <12 years) and adolescents (12-17 y...

Piga, Antonio Giulio

2006-01-01

69

Adrenal glands in beta-thalassemia major: magnetic resonance (MR) imaging features and correlation with iron stores  

Energy Technology Data Exchange (ETDEWEB)

This study aimed at describing the magnetic resonance (MR) imaging features of the adrenal glands in beta-thalassemic patients and at investigating the relation between adrenal and hepatic siderosis. Adrenal signal intensity (SI) was retrospectively assessed on abdominal MR studies of 35 patients with beta-thalassemia major undergoing quantification of hepatic siderosis and 12 healthy controls, using T1- (120/4/90), intermediate - (120/4/20), and T2*- (120/15/20) weighted GRE sequences. Adrenal SI was graded as grade 0 (normal SI on all sequences), grade 1 (hypointensity on T2* alone), or grade 2 (hypointensity on at least T2*). Adrenal size was measured in the thalassemic patients and compared with normative data. Liver-to-muscle (L/M) SI ratios, expressing hepatic siderosis, were estimated on each sequence. Serum ferritin levels were recorded. Adrenal hypointensity (grades 1 and 2) was noted in 24/35 (68.6%) patients. L/M ratios correlated significantly with adrenal SI in all sequences. Patients with grade 1 and grade 2 adrenal SI had significantly decreased L/M ratios compared with grade 0. Serum ferritin correlated significantly with L/M values but not with adrenal SI. Adrenal size was within normal limits. Diffuse hypointensity in normal-sized adrenals is a common MR finding in beta-thalassemic patients and correlates with the degree of hepatic siderosis. (orig.)

Drakonaki, Eleni; Papakonstantinou, Olympia; Maris, Thomas; Gourtsoyiannis, Nicholas [University Hospital of Heraklion, Department of Radiology, Heraklion (Greece); Vasiliadou, Artemis [Aghios Georgios Hospital of Chania, Thalassemia Unit, Chania (Greece); Papadakis, Alex [Venizelion Hospital of Heraklion, Thalassemia Unit, Heraklion (Greece)

2005-12-01

70

Adrenal glands in beta-thalassemia major: magnetic resonance (MR) imaging features and correlation with iron stores  

International Nuclear Information System (INIS)

This study aimed at describing the magnetic resonance (MR) imaging features of the adrenal glands in beta-thalassemic patients and at investigating the relation between adrenal and hepatic siderosis. Adrenal signal intensity (SI) was retrospectively assessed on abdominal MR studies of 35 patients with beta-thalassemia major undergoing quantification of hepatic siderosis and 12 healthy controls, using T1- (120/4/90), intermediate - (120/4/20), and T2*- (120/15/20) weighted GRE sequences. Adrenal SI was graded as grade 0 (normal SI on all sequences), grade 1 (hypointensity on T2* alone), or grade 2 (hypointensity on at least T2*). Adrenal size was measured in the thalassemic patients and compared with normative data. Liver-to-muscle (L/M) SI ratios, expressing hepatic siderosis, were estimated on each sequence. Serum ferritin levels were recorded. Adrenal hypointensity (grades 1 and 2) was noted in 24/35 (68.6%) patients. L/M ratios correlated significantly with adrenal SI in all sequences. Patients with grade 1 and grade 2 adrenal SI had significantly decreased L/M ratios compared with grade 0. Serum ferritin correlated significantly with L/M values but not with adrenal SI. Adrenal size was within normal limits. Diffuse hypointensity in normal-sized adrenals is a common MR finding in beta-thalassemic patients and correlates with the degree of hepatic siderosis. (orig.)

71

Beta-thalassemia  

Directory of Open Access Journals (Sweden)

Full Text Available Abstract Beta-thalassemias are a group of hereditary blood disorders characterized by anomalies in the synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. The total annual incidence of symptomatic individuals is estimated at 1 in 100,000 throughout the world and 1 in 10,000 people in the European Union. Three main forms have been described: thalassemia major, thalassemia intermedia and thalassemia minor. Individuals with thalassemia major usually present within the first two years of life with severe anemia, requiring regular red blood cell (RBC transfusions. Findings in untreated or poorly transfused individuals with thalassemia major, as seen in some developing countries, are growth retardation, pallor, jaundice, poor musculature, hepatosplenomegaly, leg ulcers, development of masses from extramedullary hematopoiesis, and skeletal changes that result from expansion of the bone marrow. Regular transfusion therapy leads to iron overload-related complications including endocrine complication (growth retardation, failure of sexual maturation, diabetes mellitus, and insufficiency of the parathyroid, thyroid, pituitary, and less commonly, adrenal glands, dilated myocardiopathy, liver fibrosis and cirrhosis. Patients with thalassemia intermedia present later in life with moderate anemia and do not require regular transfusions. Main clinical features in these patients are hypertrophy of erythroid marrow with medullary and extramedullary hematopoiesis and its complications (osteoporosis, masses of erythropoietic tissue that primarily affect the spleen, liver, lymph nodes, chest and spine, and bone deformities and typical facial changes, gallstones, painful leg ulcers and increased predisposition to thrombosis. Thalassemia minor is clinically asymptomatic but some subjects may have moderate anemia. Beta-thalassemias are caused by point mutations or, more rarely, deletions in the beta globin gene on chromosome 11, leading to reduced (beta+ or absent (beta0 synthesis of the beta chains of hemoglobin (Hb. Transmission is autosomal recessive; however, dominant mutations have also been reported. Diagnosis of thalassemia is based on hematologic and molecular genetic testing. Differential diagnosis is usually straightforward but may include genetic sideroblastic anemias, congenital dyserythropoietic anemias, and other conditions with high levels of HbF (such as juvenile myelomonocytic leukemia and aplastic anemia. Genetic counseling is recommended and prenatal diagnosis may be offered. Treatment of thalassemia major includes regular RBC transfusions, iron chelation and management of secondary complications of iron overload. In some circumstances, spleen removal may be required. Bone marrow transplantation remains the only definitive cure currently available. Individuals with thalassemia intermedia may require splenectomy, folic acid supplementation, treatment of extramedullary erythropoietic masses and leg ulcers, prevention and therapy of thromboembolic events. Prognosis for individuals with beta-thalassemia has improved substantially in the last 20 years following recent medical advances in transfusion, iron chelation and bone marrow transplantation therapy. However, cardiac disease remains the main cause of death in patients with iron overload.

Origa Raffaella

2010-05-01

72

Beta-thalassemia.  

Science.gov (United States)

Beta-thalassemias are a group of hereditary blood disorders characterized by anomalies in the synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. The total annual incidence of symptomatic individuals is estimated at 1 in 100,000 throughout the world and 1 in 10,000 people in the European Union. Three main forms have been described: thalassemia major, thalassemia intermedia and thalassemia minor. Individuals with thalassemia major usually present within the first two years of life with severe anemia, requiring regular red blood cell (RBC) transfusions. Findings in untreated or poorly transfused individuals with thalassemia major, as seen in some developing countries, are growth retardation, pallor, jaundice, poor musculature, hepatosplenomegaly, leg ulcers, development of masses from extramedullary hematopoiesis, and skeletal changes that result from expansion of the bone marrow. Regular transfusion therapy leads to iron overload-related complications including endocrine complication (growth retardation, failure of sexual maturation, diabetes mellitus, and insufficiency of the parathyroid, thyroid, pituitary, and less commonly, adrenal glands), dilated myocardiopathy, liver fibrosis and cirrhosis). Patients with thalassemia intermedia present later in life with moderate anemia and do not require regular transfusions. Main clinical features in these patients are hypertrophy of erythroid marrow with medullary and extramedullary hematopoiesis and its complications (osteoporosis, masses of erythropoietic tissue that primarily affect the spleen, liver, lymph nodes, chest and spine, and bone deformities and typical facial changes), gallstones, painful leg ulcers and increased predisposition to thrombosis. Thalassemia minor is clinically asymptomatic but some subjects may have moderate anemia. Beta-thalassemias are caused by point mutations or, more rarely, deletions in the beta globin gene on chromosome 11, leading to reduced (beta+) or absent (beta0) synthesis of the beta chains of hemoglobin (Hb). Transmission is autosomal recessive; however, dominant mutations have also been reported. Diagnosis of thalassemia is based on hematologic and molecular genetic testing. Differential diagnosis is usually straightforward but may include genetic sideroblastic anemias, congenital dyserythropoietic anemias, and other conditions with high levels of HbF (such as juvenile myelomonocytic leukemia and aplastic anemia). Genetic counseling is recommended and prenatal diagnosis may be offered. Treatment of thalassemia major includes regular RBC transfusions, iron chelation and management of secondary complications of iron overload. In some circumstances, spleen removal may be required. Bone marrow transplantation remains the only definitive cure currently available. Individuals with thalassemia intermedia may require splenectomy, folic acid supplementation, treatment of extramedullary erythropoietic masses and leg ulcers, prevention and therapy of thromboembolic events. Prognosis for individuals with beta-thalassemia has improved substantially in the last 20 years following recent medical advances in transfusion, iron chelation and bone marrow transplantation therapy. However, cardiac disease remains the main cause of death in patients with iron overload. PMID:20492708

Galanello, Renzo; Origa, Raffaella

2010-01-01

73

Results of the national program for prevention of beta-thalassemia major in the Iranian Province of Mazandaran.  

Science.gov (United States)

Prevention programs are considered to be a top priority in Iran because beta-thalassemia (beta-thal) major (TM) is the most common autosomal disorder in Iran, and in the Mazandaran Province in particular. The main strategies comprise providing appropriate information for the public and professionals, screening and counseling of families at-risk and screening of general population prior to marriage. Providing laboratories for prenatal diagnosis was the most recent step in the program. We report the results of our prevention campaign for the period 1993-2006 in order to assess the effectiveness of all actions in controlling thalassemia major. In 1993, 500 TM patients were registered at the clinic of the Boo Ali Sina Hospital, Sari, Mazandaran, Iran. From 1993 to 1996, on average of 50 new cases were added to the cohort annually, whereas from 1995 to 2005 the number of new cases declined to 35 per year. Furthermore, the patients' average age increased. Overall, 51% of couples at-risk, who received genetic counseling, decided not to marry. All at-risk couples who are married were counseled for prevention of unplanned pregnancies. Currently, 64% are using safe contraceptive methods of family planning, and 14% are no longer at-risk for further pregnancies, the rest remained at-risk for unplanned pregnancies. In conclusion, at the relatively low cost of premarital screening and genetic counseling, we have offered at-risk couples the possibility of preventing the birth of at least 600 undesired TM patients. Thus, a great deal of suffering and an unbearable financial burden has been prevented to patients and their families. PMID:18473242

Khorasani, Ghasemali; Kosaryan, Mehrnoosh; Vahidshahi, Koorosh; Shakeri, Sepideh; Nasehi, Mohamad Mehdi

2008-01-01

74

Bone marrow changes in beta-thalassemia major: quantitative MR imaging findings and correlation with iron stores  

Energy Technology Data Exchange (ETDEWEB)

The purpose of this study is to describe the MR imaging features of bone marrow in beta-thalassemia major and investigate their relation to ferritin, liver and spleen siderosis. Spinal bone marrow was prospectively assessed on abdominal MR studies of 40 transfused beta-thalassemic patients and 15 controls using T1-w, Pd, T2*-w Gradient Echo (GRE) and T1-w turbo Spin Echo (TSE) sequences. Signal intensity (SI) ratios of liver, spleen and bone marrow to paraspinous muscles (L/M, S/M, B/M respectively) and the respective T2 relaxation rates (1/T2) were calculated. Serum ferritin levels were recorded. Bone marrow hypointensity in at least T2*-w GRE sequence was noted in 29/40 (72.5%) patients. Eleven/40 patients exhibited normal B/M on all MR sequences. Five/40 patients had normal B/M and low L/M. B/M correlated with L/M in T1-w TSE sequence only (r = 0.471, p = 0.05). B/M correlated with S/M and mean ferritin values in all sequences (r > 0.489, p < 0.01 and r > - 0.496, p < 0.03 respectively). Marrow 1/T2 did not correlate with ferritin values or liver and spleen 1/T2. B/M in transfused beta-thalassemic patients is related to splenic siderosis and ferritin levels. Although marrow is usually hypointense, it may occasionally display normal SI coexisting with liver hypointensity, a pattern typical of primary hemochromatosis. (orig.)

Drakonaki, Eleni E.; Karantanas, Apostolos H. [University Hospital of Heraklion, Radiology Department, Heraklion, Crete (Greece); Maris, Thomas G. [University of Crete, Department of Medical Physics, Heraklion, Crete (Greece); Papadakis, Alex [Venizelion General Hospital, Heraklion, Crete (Greece)

2007-08-15

75

Bone marrow changes in beta-thalassemia major: quantitative MR imaging findings and correlation with iron stores  

International Nuclear Information System (INIS)

The purpose of this study is to describe the MR imaging features of bone marrow in beta-thalassemia major and investigate their relation to ferritin, liver and spleen siderosis. Spinal bone marrow was prospectively assessed on abdominal MR studies of 40 transfused beta-thalassemic patients and 15 controls using T1-w, Pd, T2*-w Gradient Echo (GRE) and T1-w turbo Spin Echo (TSE) sequences. Signal intensity (SI) ratios of liver, spleen and bone marrow to paraspinous muscles (L/M, S/M, B/M respectively) and the respective T2 relaxation rates (1/T2) were calculated. Serum ferritin levels were recorded. Bone marrow hypointensity in at least T2*-w GRE sequence was noted in 29/40 (72.5%) patients. Eleven/40 patients exhibited normal B/M on all MR sequences. Five/40 patients had normal B/M and low L/M. B/M correlated with L/M in T1-w TSE sequence only (r = 0.471, p = 0.05). B/M correlated with S/M and mean ferritin values in all sequences (r > 0.489, p - 0.496, p < 0.03 respectively). Marrow 1/T2 did not correlate with ferritin values or liver and spleen 1/T2. B/M in transfused beta-thalassemic patients is related to splenic siderosis and ferritin levels. Although marrow is usually hypointense, it may occasionally display normal SI coexisting with liver hypointensity, a pattern typical of primary hemochromatosis. (orig.)

76

Endocrinopathies in beta-thalassemia major. Prevalence, risk factors, and age at diagnosis in Northwest Saudi Arabia  

Directory of Open Access Journals (Sweden)

Full Text Available Objectives: To define the prevalence, risk factors, and age at diagnosis of endocrinopathies in beta-thalassemia  major (BTM in Northwest Saudi Arabia. Methods: This retrospective cross-sectional study included patients with BTM attending a combined endocrine-hematology clinic in Al-Madinah, Kingdom of Saudi Arabia from March 2009 to December 2010. Clinical and biochemical data from the initial clinic visits were used to define the prevalence and age of diagnosis of endocrinopathies. Demographic and laboratory variables were analyzed to identify significant risk factors. Results: Eighty-one patients (42 males, aged 2-28 years were screened. Thirty-eight of them (46.9% had at least one endocrinopathy. Of these, 28.9% (11/38 were aged less than 10 years. Hypogonadism was the most common complication detected in 52.7% (19/36 of patients of pubertal age group and 23.4% (19/81, of all cohort followed by short stature in 20.9% (17/81, subclinical hypothyroidism in 14.8% (12/81 and hypoparathyroidism in 11.1% (9/81. Patients with endocrinopathies were older (p=0.001, had longer duration of transfusion (p=0.001, and were started at a late age on chelation than those without endocrinopathies (p=0.07. Recent serum ferritin was poorly correlated to endocrinopathies (p=0.15. Conclusion: Endocrinopathies are common in our BTM cohort, and patients with this condition benefit from regular endocrine screening within the first 10 years of life. Although endocrinopathies were more prevalent in older patients; further, longitudinal studies are needed to define the exact age of onset and independent risk factors for these complications. 

Adnan S. Osilan

2013-01-01

77

Correlation of Echocardiography and MRI T2* in Beta- Thalassemia Major  

Directory of Open Access Journals (Sweden)

Full Text Available Introduction:Transfusional therapy can lead to iron deposition and damage to the heart, liver and endocrine organs in thalassemia major patients. Cardiomyopathy is one of the major complications of ?-thalassemic patients, resulting from iron overload. It is one of the major causes of morbidity and mortality in these patients. It has been shown that there is no correlation between serum ferritin and liver and heart iron deposition. Endocardial biopsy for iron deposition is the most accurate test in this regard, which is invasive. Iron shortens MRI parameters T1, T2 and T2* in the involved organs, which creates a potential mechanism for iron quantification. MRI T2* has especially been shown to have an inverse correlation with iron overload in the myocardium. Values less than 20 ms show significant iron deposition. Recently echocardiographic measures have been introduced to estimate the iron status of the myocardium. As diastolic dysfunction may precede systolic dysfunction, echocardiographic indices of diastolic function may be compared with myocardial MRI T2*."nMaterials and Methods: In this study, 35 major thalassemic patients from thalassemia research center at Bou Ali Sina hospital, Sari were enrolled. They have been under transfusion for a mean time of 15 years. Informed consent was filled and echocardiography and MRI T2* has been performed for all patients. The result for each test and the correlation of both procedures are shown in correlation with cardiac performance.

Maryam Barzan

2009-01-01

78

Cord Compression due to Extramedullary Hematopoiesis in an Adolescent with Known Beta Thalassemia Major  

Directory of Open Access Journals (Sweden)

Full Text Available We describe a 16 year-old male with ß thalassemia major and gait disturbances that had not been given blood transfusions due to a severe childhood transfusion reaction. Thoracic spine MRI demonstrated hematopoietic marrow throughout the spine and epidural masses causing cord compression consistent with extramedullary hematopoiesis (EMH. After treatment with steroids, radiotherapy and monitored blood transfusions, the patient demonstrated significant improvement of his paraspinal lesions and near complete resolution of his neurological symptoms. While EMH causing cord compression in adolescents is rare in the current era of bone marrow transplantation or chronic transfusions, it should be considered when thalassemia major patients present with neurological deficits. The well defined imaging features of EMH can play a central role in its diagnosis and management, especially because surgical and / or radiotherapeutic intervention are often considered in cases of failed medical treatment.

Alan COHLER

2009-01-01

79

Agranulocyosis in Beta Thalassemia Major Patients treated with Oral Iron Chelating Agent (Deferiprone)  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Deferiprone is an oral chelating agent that has been recently shown to reduce cardiac siderosis, but is also known to be associated with serious side effects like agranulocytosis which can be fatal. This report is a single centre experience of 5 cases with severe agranulocytosis in amongst 144 patients (3.47%) of thalassemia major on combined chelation therapy with subcutaneous desferrioxamine and oral deferiprone which is much higher than the previous reports.

Wali, Yasser; Shidhani, Azza Al; Daar, Shahina

2008-01-01

80

Comparative Evaluation of Renal Findings in Beta-Thalassemia Major and Intermedia  

Directory of Open Access Journals (Sweden)

Full Text Available Thalassemia is a systematic disease in which the renal involvement has not yet been scrupulously studied. In a cross-sectional study, the renal findings of 50 cases of thalassemia intermedia (group 1 were compared to 58 patients with thalassemia major (group 2. Blood urea nitrogen, serum creatinine, uric acid, calcium, phosphorus, urinalysis, and ultrasonographical findings were evaluated. Mean age was 18 ± 3.0 in group 1 and 17 ± 3.5 years in group 2. The mean of serum ferritin levels was 871 ± 81.8 ng/ml in group 1 vs. 3503 ± 201 ng/ml in thalassemia major (p < 0.05. Ninety-two percent of the patients in group 1 were on hydroxyurea at the time of evaluation. Serum uric acid was significantly higher in group 1 than group 2 patients (5.74 ± 2.95 vs. 4.12 ± 0.9 mg/dl, p < 0.05. Microscopic hematuria (red blood cell in high power field of urine microscopy > 5 was observed among 19 children (17.6%; 17 of them were in group 1. In contrast, children with thalassemia major had significantly higher serum creatinine (0.89 ± 0.18 vs. 0.59 ± 0.37 mg/dl, p < 0.05 and blood urea nitrogen values (12.14 ± 5.58 vs. 13.85 ± 3.54 mg/dl, p < 0.05. We conclude that significant renal involvement is not a frequent complication in children and young adults suffering from thalassemia. Hyperuricemia and microscopic hematuria are more common in thalassemia intermedia than thalassemia major. Microscopic hematuria in thalassemia intermedia might be related to either hypercalciuria or hyperuricosuria.

Ali Derakhshan

2008-01-01

 
 
 
 
81

Agranulocyosis in Beta Thalassemia Major Patients treated with Oral Iron Chelating Agent (Deferiprone)  

Science.gov (United States)

Deferiprone is an oral chelating agent that has been recently shown to reduce cardiac siderosis, but is also known to be associated with serious side effects like agranulocytosis which can be fatal. This report is a single centre experience of 5 cases with severe agranulocytosis in amongst 144 patients (3.47%) of thalassemia major on combined chelation therapy with subcutaneous desferrioxamine and oral deferiprone which is much higher than the previous reports. PMID:22334841

Wali, Yasser; Shidhani, Azza Al; Daar, Shahina

2008-01-01

82

Renal functions in pediatric patients with beta-thalassemia major: relation to chelation therapy: original prospective study  

Directory of Open Access Journals (Sweden)

Full Text Available Abstract Background In ?-thalassemia, profound anemia and severe hemosiderosis cause functional and physiological abnormalities in various organ systems. In recent years, there have been few published studies mainly in adult demonstrating renal involvement in ?-thalassemia. This prospective study was aimed to investigate renal involvement in pediatric patients with transfusion dependant beta-thalassemia major (TD-?TM, using both conventional and early markers of glomerular and tubular dysfunctions, and to correlate findings to oxidative stress and iron chelation therapy. Methods Sixty-nine TD-?TM patients (aged 1-16 years and 15 healthy controls (aged 3-14 years were enrolled in this study. Based on receiving chelation therapy (deferoxamine, DFO, patients were divided into two groups: group [I] with chelation (n = 34 and group [II] without chelation (n = 35. Levels of creatinine (Cr, calcium (Ca, inorganic phosphorus (PO4, uric acid (UA and albumin were measured by spectrophotometer. Serum (S levels of cystatin-C (SCysC and total antioxidant capacity (STAC and urinary (U levels of ?2-microglobulin (U?2MG were measured by immunosorbent assay (ELISA. Urinary N-acetyl-beta-D-glucosaminidase (UNAG activity and malondialdehyde (UMDA were measured by chemical methods. Estimated glomerular filtration rate (eGFR was determined from serum creatinine. Results In patient with and without chelation, glomerular [elevated SCysC, SCr, Ualbumin/Cr and diminished eGFR]; and tubular dysfunctions [elevated SUA, SPO4, UNAG/Cr, U?2MG/Cr] and oxidative stress marker disturbances [diminished STAC and elevated UMDA/Cr] were reported than controls. In patients with chelation, SCysC was significantly higher while, STAC was significantly lower than those without chelation. In all patients, SCysC showed significant positive correlation with SCr and negative correlation with eGFR; STAC showed significant positive correlation with eGFR and negative correlation with SCysC, SCr, UNAG/Cr; UMDA/Cr showed significant positive correlation with Ualbumin/Cr, U?2MG/Cr, UNAG/Cr. Conclusions Our data confirm high frequency of glomerular and tubular dysfunctions in TD-?TM pediatric patients which could be attributed to oxidative stress and DFO therapy.

ElMelegy Nagla T

2010-05-01

83

Major Beta-thalassemia: Protective or predisposing Factor for Cardiovascular Diseases  

Directory of Open Access Journals (Sweden)

Full Text Available Introduction: Cardiac dysfunctions have been well known in patients with Major thalassemia. Some studies have focused on differences in blood pressure and heart rate between these patients and normal population, while this view has not been proven in other studies. Given the importance of hemodynamic factors in the health of these individuals, we intend to test the hypothesis as to whether or not hemodynamic factors of these patients differ from normal subjects.Methods: Patients were selected from among the thalassemic patients referred to a blood clinic of one of the third-level hospitals in Tehran. Finally, 50 patients and 50 normal subjects were studied in two groups. All subjects have been assessed using Holter monitoring. Mean average systolic blood pressure and heart rate of subjects were recorded for a period of 24 hours.In addition, demographic data on the subjects, and some laboratory tests (such as serum lipid profile and glucose levels of the patients were also determined and compared between the two groups.Results: 100 people were evaluated in two groups, including 50 patients with thalassemia major and 50 normal subjects, matched by age and gender. The mean age of the subjects was 16.3 ± 6.7 years; and there is no significant difference in mean age of both groups.23 female patients (46% were in the case group, and 21 female patients (42% were in the healthy group, the ratio for which there is no statistically significant difference between the two groups (P> 0. 05. The average level of serum glucose, lipid profiles, as well as none of the hemodynamic factors had no statistically significant difference in the two groups.Only the mean systolic blood pressure was significantly lower in male patients than among men without the disease. Discussion: Despite the lack of difference in blood pressure between the case group and others, it seems that gender could plays a protective role against cardiovascular diseases in men with thalassemia major.

Mitra Kazemi Jahromi

2011-01-01

84

Post-transfusion hypertension, convulsion and intracranial haemorrhage in beta-thalassemia major  

International Nuclear Information System (INIS)

The haematologic disorder b-thalassemia major is common in Pakistan. We describe a patient with undiagnosed thalassemia presenting with hypertension and convulsions and found to have cerebral haemorrhage on neuro-imaging. He had been transfused 2 weeks before this illness. Our experience is similar to a few case reports described in literature that were found to have cerebral haemorrhages post-mortem after a similar clinical presentation. All patients had a blood transfusion within 2 weeks prior to the presentation so association with transfusion has been proposed. We have reviewed the several mechanisms presented and discussed the findings. (author)

85

Effects of Vitamin E and Zinc Supplementation on Antioxidants in Beta-Thalassemia Major Patients  

Directory of Open Access Journals (Sweden)

Full Text Available Objective:In beta thalassemic patients, tissue damage occurs due to oxidative stress and it happens because of the accumulation of iron in the body. This study was conducted to determine the effect of zinc and vitamin E supplementation on antioxidant status in beta-thalassemic major patients.Methods:This double blind randomized clinical trial was carried out on 120 beta thalassemic patients older than 18 years. Patients were randomly categorized in four groups. Zinc (50mg/day and vitamin E (400mg/day supplements were administered for former and latter group, respectively. In the third group both supplements were administered in similar doses. The fourth (control group received no supplement. The effect of supplementations on serum zinc and vitamin E, superoxide dismutase (SOD, glutathione peroxidase (GPX, total antioxidant capacity (TAC and body mass index (BMI were measured at the beginning and the end of the study.Findings:Serum zinc levels in group 1 and 3 were significantly increased (P< 0.007 and P< 0.005, respectively. Serum vitamin E levels in group 2 and 3 were also increased significantly (P< 0.001. Mean GPX activity in group1, 2 and 3 decreased significantly (P< 0.015, P< 0.032 and P< 0.029, respectively. Mean SOD activity and TAC did not show significant change after supplementation. BMI had significant increase in all treated groups (P< 0.001.Conclusion:Our results suggest that beta thalassemic patients have enhanced oxidative stress and administration of selective antioxidants may preclude oxidative damage

Mohammadreza Rashidi

2011-03-01

86

Effects of Vitamin E and Zinc Supplementation on Antioxidants in Beta-Thalassemia Major Patients  

Directory of Open Access Journals (Sweden)

Full Text Available Objective:In beta thalassemic patients, tissue damage occurs due to oxidative stress and it happens because of the accumulation of iron in the body. This study was conducted to determine the effect of zinc and vitamin E supplementation on antioxidant status in beta-thalassemic major patients. Methods:This double blind randomized clinical trial was carried out on 120 beta thalassemic patients older than 18 years. Patients were randomly categorized in four groups. Zinc (50mg/day and vitamin E (400mg/day supplements were administered for former and latter group, respectively. In the third group both supplements were administered in similar doses. The fourth (control group received no supplement. The effect of supplementations on serum zinc and vitamin E, superoxide dismutase (SOD, glutathione peroxidase (GPX, total antioxidant capacity (TAC and body mass index (BMI were measured at the beginning and the end of the study. Findings:Serum zinc levels in group 1 and 3 were significantly increased (P<0.007 and P<0.005, respectively. Serum vitamin E levels in group 2 and 3 were also increased significantly (P<0.001. Mean GPX activity in group1, 2 and 3 decreased significantly (P<0.015, P<0.032 and P<0.029, respectively. Mean SOD activity and TAC did not show significant change after supplementation. BMI had significant increase in all treated groups (P<0.001. Conclusion:Our results suggest that beta thalassemic patients have enhanced oxidative stress and administration of selective antioxidants may preclude oxidative damage.

Abbasali Keshtkar

2011-03-01

87

Efficacy of Carvedilol in Patients with Dilated Cardiomyopathy due to Beta-thalassemia Major a Double-blind Randomized Controlled Trial  

Directory of Open Access Journals (Sweden)

Full Text Available Objective:Dilated cardiomyopathy is the end result of chronic iron overload in patients with beta thalassemia major. The objective of the present study was to evaluate the safety and efficacy of Carvedilol in patients with beta thalassemia major and dilated cardiomyopathy.Methods:During a six-month period, fourteen patients with beta-thalassemia major and heart failure without diabetes mellitus referred to pediatric cardiology clinic enrolled in this double blind, randomly assigned study. All patients were on anti failure therapy with Digoxin, Captopril and Furosemide. Carvedilol was started at a dosage of 3.12 mg bid and for patients who had a systolic blood pressure >100 mmHg, heart rate >60/min and no signs of low cardiac output the dosage was increased every two weeks to a maximum of 25 mg bid. Clinical signs and symptoms, systolic and diastolic echocardiographic indexes and Tissue Doppler Imaging (TDI data were collected from each patient.Findings:Eight patients received Carvedilol (Group 1 and six received placebo (Group 2. The mean age of patients in Group1 and 2 were 16?0.7 years and 17?3 years respectively. Only one patent in Group 1 tolerated increasing Carvedilol dosage to more than 6.25 mg bid. Changes in New York Heart Association (NYHA classification, Ejection fraction, End diastolic dimension changes, TDI systolic(S, early (Ea and late (Aa diastolic waves were not statistically significant in these two Groups (P>0.05. Pulse Doppler E/A wave ratio of mitral valve in Group1 and Group 2 changed from 1.1?0.37 m/s to 1.8?0.40 m/s and from 1.34?0.30 m/s to 2.6?0.23m/s respectively (P=0.04.Conclusion:Patients with thalassemia and dilated cardiomyopathy have poor tolerance to increasing Carvedilol dosage and develop decreased systolic blood pressure during advancement of the drug dosage. Carvedilol can be effective in prevention of progression of diastolic dysfunction in these patients.

Gholam-Hossein Ajami

2010-09-01

88

Efficacy of Carvedilol in Patients with Dilated Cardiomyopathy due to Beta-Thalassemia Major; a Double-Blind Randomized Controlled Trial  

Directory of Open Access Journals (Sweden)

Full Text Available Objective: Dilated cardiomyopathy is the end result of chronic iron overload in patients with beta thalassemia major. The objective of the present study was to evaluate the safety and efficacy of Carvedilol in patients with beta thalassemia major and dilated cardiomyopathy.Methods: During a six-month period, fourteen patients with beta-thalassemia major and heart failure without diabetes mellitus referred to pediatric cardiology clinic enrolled in this double blind, randomly assigned study. All patients were on anti failure therapy with Digoxin, Captopril and Furosemide. Carvedilol was started at a dosage of 3.12 mg bid and for patients who had a systolic blood pressure >100 mmHg, heart rate >60/min and no signs of low cardiac output the dosage was increased every two weeks to a maximum of 25 mg bid. Clinical signs and symptoms, systolic and diastolic echocardiographic indexes and Tissue Doppler Imaging (TDI data were collected from each patient.Findings: Eight patients received Carvedilol (Group 1 and six received placebo (Group 2. The mean age of patients in Group1 and 2 were 16±0.7 years and 17±3 years respectively. Only one patent in Group 1 tolerated increasing Carvedilol dosage to more than 6.25 mg bid. Changes in New York Heart Association (NYHA classification, Ejection fraction, End diastolic dimension changes, TDI systolic(S, early (Ea and late (Aa diastolic waves were not statistically significant in these two Groups (P>0.05. Pulse Doppler E/A wave ratio of mitral valve in Group1 and Group 2 changed from 1.1±0.37 m/s to 1.8±0.40 m/s and from 1.34±0.30 m/s to 2.6±0.23m/s respectively (P=0.04.Conclusion: Patients with thalassemia and dilated cardiomyopathy have poor tolerance to increasing Carvedilol dosage and develop decreased systolic blood pressure during advancement of the drug dosage. Carvedilol can be effective in prevention of progression of diastolic dysfunction in these patients.

Afsaneh Ashrafi

2010-09-01

89

Synergic effect of chronic hepatitis C infection and beta thalassemia major with marked hepatic iron overload on liver fibrosis: a retrospective cross-sectional study  

Directory of Open Access Journals (Sweden)

Full Text Available Abstract Background Increased hepatic iron is assumed to potentiate progression towards liver fibrosis in chronic hepatitis C virus (HCV infection. In this study we have evaluated the potentiating effect of marked hepatic iron overload and chronic HCV infection on hepatic fibrosis in thalassemic patients. Methods Liver biopsies of one group of patients with beta thalassemia major and chronic HCV infection (group 1 was compared with two groups of patients (groups 2&3 with either chronic HCV infection or thalassemia major, respectively (20 patients in each group. Necroinflammation, fibrosis, and iron overload were graded and compared. Results Stage of fibrosis in group 1 patients was significantly higher than the other two groups (p Conclusion Our results indicate that marked liver iron overload and HCV infection in thalassemic patients have potentiating effect on hepatic fibrogenesis.

Toosi Mohsen N

2004-08-01

90

No evidence of xenotropic murine leukemia virus-related virus infection in Brazilian multiply transfused patients with sickle cell disease and beta-thalassemia major.  

Science.gov (United States)

Although xenotropic murine leukemia virus-related virus (XMRV) has been regarded as a laboratory contaminant, it remains one of the most controversial viruses. The objective of the study was to determine if XMRV is present in 44 patients with beta-thalassemia major, 48 with sickle cell disease, and 89 volunteer blood donors. After RNA/ DNA extraction from plasma/buffy coat the samples were screened for XMRV sequences by conserved nested GAG primers. None of the RNA samples showed a positive result. Surprisingly, four DNA samples obtained from blood donors were positive for XMRV provirus. The subsequent phylogenetic analysis revealed that these sequences are identical to the positive control (murine leukemia retrovirus) and are probably consistent with laboratory contam- ination. XMRV infection (provirus and viral RNA) was absent in multiply transfused patients and volunteer blood donors. The positive result obtained from some blood donors probably reflects laboratory contamination. We believe that XMRV does not pose risk to blood transfusion. PMID:25387292

Slavov, Svetoslav Nanev; Otaguiri, Katia Kaori; Macedo, Mayra Dorigan; Rocha-Júnior, Maurício Cristiano; Silva-Pinto, Ana Cristina; Kashima, Simone; Covas, Dimas Tadeu

2014-10-01

91

Echocardiographic evaluation of systolic and diastolic heart function in patients suffering from beta-thalassemia major aged 5-10 years at the Zahedan Research Center for Children and Adolescent Health  

Directory of Open Access Journals (Sweden)

Full Text Available Objective: Cardiac complications are the major cause of morbidity and mortality in beta-thalassemia major. The aim of the study was to evaluate right (RV and left (LV ventricular systolic and diastolic functions using myocardial performance index in young, asymptomatic children suffering from thalassemia major, for early detection of cardiac function impairment, preventing further cardiac damage by modifying disease progression and treatment.Methods: A case-controlled, cross-sectional study involving 80 patients suffering from beta- thalassemia major and 80 children adjusted in terms of age and sex served as a control group were studied in Research Center for Children and Adolescent Health Zahedan. The relevant echocardiographic parameters were measured in both subject groups: myocardial performance index (MPI, isovolumic relaxation time (IRT, isovolumic contraction time (ICT, pre-ejection period (PEP, ejection time (ET, PEP/ET ratio, deceleration time (DT and acceleration time (AT. Data were analyzed by unpaired Student t test.Results: The left ventricular mean IRT in the patient group was 114±21 and in the control group 94±10 msec (p<0.05. The mean MPI (LV in the patient group was 0.58±0.18 and in the control group 0.41±0.08 (p<0.05. The mean ET (LV in the patient group was 237±36 msec and in the control group 266±25 msec (p<0.05. The mean ET (RV in the patient group was 237±39 msec and in the control group 261±36 msec (p<0.05. Conclusion: There is an early systolic and diastolic dysfunction in children younger than 10 years with beta-thalassemia major. Even in young asymptomatic children with beta-thalassemia major, serial echocardiography seems warranted in order to adjust cardioprotective therapy.

Noor Mohammad Noori

2010-04-01

92

Evaluation of Myocardial Performance Index(Mpi in Beta Thalassemia Major Patients at the Ali Asghar Hospital , Zahedan , Iran  

Directory of Open Access Journals (Sweden)

Full Text Available Introduction : Patients with major thalassemia need recurrent transfusions and if not treated are at risk of heart dysfunction. Heart tissue could be abnormal in patients who use desferral continously due to iron deposits , fibrosis , hypertrophy and side effects of chronic anemia. Cardiac involvement is the main cause of morbidity and mortality in major thalassemics, so we decided to improve early diagnosis of cardiac involvement by measuring myocardial performance index( MPI . Method & Materials : This case-control study was performed from April 2003 to December 2003 at the Ali-Asghar pediatrics hospital, Zahedan, Iran. MPI of both ventricles was measured by Doppler echocardiography in 48 patients with major thalassemia aged between 10-18 years and compared with 48 age , sex-matched controls. Patients had no abnormality in physical examination , chest x-ray and ECG and echocardiography did not show heart failure. Hemoglobin and serum ferritin levels was measured in all patients before echocardiography. Results: Mean age of patients was 12.3±2.4 years and that in the control group was 12.7±2years . Right ventricle isovolumetric relaxation time (RVIRT (107 ± 14 vs 94 ±14 , p0.05 and LVICT (31 ± 13 vs 21 ± 15 , p0.05 in the two groups. Finally, RVMPI (0.59 ± 0.12 Vs 0.46 ± 0.12 , p<0.001 was increased in 87% of patients and LVMPI (0.49 ± 0.12 Vs 0.41± 0.09 , p0.05. Conclusion: This study showed that RVMPI and LVMPI increase in major thalassemia patients that indicates systolic and diastolic dysfunction and RVMPI increases more than LVMPI. On the other hand, MPI has a direct correlation with serum ferritin . On the basis of this study ,we suggest MPI measurement in serial echocardiography in asymptomatic major thalassemia patients.

R Sohrevardi

2004-04-01

93

Co-existence of Phenylketonuria (PKU and beta-Thalassemia Major in a 16 Years Old Girl: A Case Report  

Directory of Open Access Journals (Sweden)

Full Text Available While thalassemia major (TM used to be a prevalent genetic disease in the past, however, (PKU is quite rare in spite of consanquiness marriage rate of about 40% in the region. Preventive efforts for TM started >20 years ago but neonatal screening for PKU started since 2007. This is the first report of co-existence of thalassemia and PKU in Middle East and in consideration of the prevalence of each genes, this chance association is a very unusual event. We report a case of having PKU and TM

Hossein Karami

2012-07-01

94

Application of Single Strand Conformational Polymorphism (PCR-SSCP) in Identification of Some Beta-Globin Gene Mutations in A Group of Egyptian Beta-Thalassemia Patients and Carriers  

International Nuclear Information System (INIS)

compared to other methods, ARMS, DGGE or DHPLC, which are reported to detect 49.5% to 73% of the mutations present. The SSCP method is nevertheless much easier to employ than other methods and is especially successful for beta-thalassemia carriers. This method would thus be particularly useful for an initial screening of target groups (prenatal diagnosis)

95

Effects of the anti-receptor activator of nuclear factor kappa B ligand denusomab on beta thalassemia major-induced osteoporosis  

Science.gov (United States)

Introduction: Osteoporosis represents the second most common cause of endocrinopathy in patients with beta thalassemia major (BTM). Some drugs proved effective to reduce vertebral and non-vertebral fracture risk. Denosumab is a fully human monoclonal antibody to the receptor activator of nuclear factor kappa B ligand (RANKL), a member of the tumor necrosis factor receptor superfamily essential for osteoclastogenesis. The efficacy and safety of denosumab in BTM-induced osteoporosis has not been tested. Objective: To evaluate the efficacy and safety of anti-RANKL on the biochemical and radiological parameters of bone mineralization in patients with BTM-induced osteoporosis. Design: The study population was selected using the random sampling method from the patient's database of our thalassemia clinic. Transfusion-dependent BTM patients above 18 years with no history of treatment with bisphosphonates were randomly selected. Bone mineral density (BMD) of the lumbar spine (LS) and right femoral neck (FN) were measured by dual energy X-ray absorption (DEXA) scan using a calibrated method. Independent factors likely to be associated with low bone mass were determined and included in the analysis to ascertain possible associations. Patients and Methods: We studied 30 patients with BTM-induced osteoporosis as per World Health Organization criteria (T Score of less than ? 1.0 being defined as osteopenic and a T Score of less than ? 2.5 being referred as osteoporotic). 19 males and 11 females aged between 18 and 32 years, with full pubertal development (Tanner's stage 5) at the time of the study. Their mean serum ferritin concentration was 3557 ng ± 1488 ng/ml. Every patient underwent DEXA scan as a baseline and after 12 months of denosumab therapy. Biochemical evaluation including serum concentrations of creatinine, Na, K, calcium, phosphorus, parathormone, bone specific alkaline phosphatase and type 1 collagen carboxy telopetide (ICCT) using enzyme-linked immunosorbent assay (Nordic Bioscience Diagnostics A/S) was done at baseline, after a month and then every 3 months for 12 months after starting denosumab. 60 mg of denosumab was administered subcutaneously twice yearly for a year. The mean BMD T Scores at baseline were ?2.7 at the LS and ?2.1 at the FN. Results: Denosumab therapy for a year was associated with a significant increase in BMD of 9.2% (95% confidence interval [CI], 8.2-10.1) at the LS and 6.0% (95% CI, 5.2-6.7) at the FN. Denosumab treatment decreased serum ICCT levels by 56% at 1 month and normalized them in all patients at 1 year. Significant correlations were found between BMD T Score before and 1 year after denosumab in LS (r = 0.752, P < 0.001) and FN (r = 0.758 P < 0.001), respectively. The most common side effects were pain in the back and extremities (12%) and nausea (10%). Asymptomatic hypocalcaemia occurred in two patients. Conclusion: Denosumab therapy for a year significantly increased BMD density at LS and FN of patients with BTM and was associated with a rapid and sustained reduction in ICCT levels. Further studies are required to confirm long-term effects of this therapy. PMID:25143915

Yassin, Mohamed A.; Soliman, Ashraf T.; De Sanctis, Vincenzo; Abdelrahman, Mohamed Osman; Aziz Bedair, Elsaid M.; AbdelGawad, Manal

2014-01-01

96

Guidelines for diagnosis and management of Beta-thalassemia intermedia.  

Science.gov (United States)

Beta-thalassemia intermedia (?-TI) is a genetic variant of beta-thalassemias with a clinical disorder whose severity falls between thalassemia minor and thalassemia major. Different genetic defects are involved in this disorder and, based on severity of disease, clinical complications like skeletal deformities and growth retardation, splenomegaly, extramedullary hematopoiesis, heart failure, and endocrine disorders may be present in untreated patients. Precise diagnosis and management are essential in these patients for prevention of later clinical complications. Diagnosis of TI is based on clinical and laboratory data. There are some treatment strategies like modulation of gamma-globulin chain production with hydroxyurea or other drugs, transfusion, splenectomy, and stem cell transplantation. Iron chelation therapy is also needed in many of these patients even if they are not transfused. The aim of this manuscript is to review the clinical manifestations, complications, genetic defects, and unmet treatments needs in TI. PMID:25247665

Karimi, Mehran; Cohan, Nader; De Sanctis, Vincenzo; Mallat, Naji S; Taher, Ali

2014-10-01

97

Hematology of a murine. beta. -thalassemia: a longitudinal study  

Energy Technology Data Exchange (ETDEWEB)

Mice homozygous for a spontaneous mutation, in which the ..beta..-major globin gene is deleted, have clinical symptoms of ..beta..-thalassemia. These mice have a hypocellular, hypochromic, microcytic anemia that becomes more severe with increasing age. The defective red cell morphology, decreased osmotic fragility of erythrocytes and shortened red cell life span found in ..beta..-thalassemic mice are similar to those observed in human ..beta..-thalassemia. Synthesis of ..beta..-globin is depressed but not as much as might be expected because the expression of the..beta..-minor globin gene is enhanced to encode two to three times more globin than in normal mice. Splenomegaly, an enlarged pool of stem cells for erythropoiesis, and iron overloading occur in older mice. The fact that these mice remain moderately healthy makes them a very suitable animal model in which to develop and test alternative techniques of gene therapy that could be successfully applied to the treatment of human thalassemia. Homozygous ..beta..-thalassemic mice have large deposits of iron in their tissues, which might make these mice also useful for in vivo tests of the effectiveness and possible long-term side effects for newly developed iron chelators.

Popp, R.A.; Popp, D.M.; Johnson, F.M.; Skow, L.C.; Lewis, S.E.

1986-01-01

98

Renal tubular dysfunction nephrocalcinosis in a patient with BetaThalassemia Minor  

International Nuclear Information System (INIS)

Thalassemia is a hereditary anemia resulting from defect in hemoglobinproduction. Beta thalassemia is due to impaired production. Beta thalassemiais due to impaired production of beta globin chains, leading to a relativeexcess of alpha globin chains. The term beta thalassemia minor is used todescribe heterozygotes, who carry one normal beta globin and one betathalassemic allele. The vast majority of these patients are asymptomatic.However, a variety of renal tubular abnormalities including hypercaliuria,hypomagnesemia with renal magnesium wasting, decreased tubular absorption ofphosphorous, hypouricemia with renal uric acid wasting, renal glycosuria andtubular proteinuria have been described even in patients with betathalassemia minor. We here in report a 24-year old patient who was found tohave thalassemia minor and nephrocalcinosis with evidence of renal tubulardysfunction. Investigations revealed normal renal function, hypercalciuria,reduced tubular reabsorption of phosphorous, hypomagnesemia and renalmagnesium wasting. Screening for aminoaciduria was found to be negative. Anacid loading test revealed normal urinary acidification. Ultrasonogram of theabdomen revealed nephrocalcinosis and splenomegaly. Detailed work up foranemia showed normal white cell and platelet count while peripheral smearshowed microcytic hypochromic anemia with few target cells. Hemoglobinelectrophoresis revealed hemoglobin A of 92%, hemoglobin A2 of 6.2% andhemoglobin F of 1.8% consistent wi6.2% andhemoglobin F of 1.8% consistent with beta thalassemia minor. Her parentalscreening was normal. A diagnosis of beta thalassemia minor with renaltubular dysfunction was made and the patient was started on thiazidediuretics to reduce hypercalciuria and advised regular follow-up. (author)

99

Intracranial Extramedullary Hematopoiesis in Beta-Thalassemia  

Energy Technology Data Exchange (ETDEWEB)

Extramedullary hematopoiesis (EMH) represents tumor-like proliferation of hemopoietic tissue which complicates chronic hemoglobinopathy. Intracranial EMH is an extremely rare occurrence. Magnetic resonance imaging (MRI) offers a precise diagnosis. It is essential to distinguish EMH from other extradural central nervous system tumors, because treatment and prognosis are totally different. Herein, we report the imaging findings of beta-thalassemia in a 13-year-old boy complaining of weakness of left side of the body and gait disturbance; CT and MRI revealed an extradural mass in the right temporoparietal region.

Karki, Bivek; Xu, Yi Kai; Wu, Yuan Kui [Nan fang Hospital, Southern Medical University, Guangzhou (China); Tamrakar, Karuna [Zhujiang Hospital, Southern Medical University, Guangzhou (China)

2012-03-15

100

Intracranial Extramedullary Hematopoiesis in Beta-Thalassemia  

International Nuclear Information System (INIS)

Extramedullary hematopoiesis (EMH) represents tumor-like proliferation of hemopoietic tissue which complicates chronic hemoglobinopathy. Intracranial EMH is an extremely rare occurrence. Magnetic resonance imaging (MRI) offers a precise diagnosis. It is essential to distinguish EMH from other extradural central nervous system tumors, because treatment and prognosis are totally different. Herein, we report the imaging findings of beta-thalassemia in a 13-year-old boy complaining of weakness of left side of the body and gait disturbance; CT and MRI revealed an extradural mass in the right temporoparietal region.

 
 
 
 
101

Renal tubular dysfunction with nephrocalcinosis in a patient with beta thalassemia minor  

Directory of Open Access Journals (Sweden)

Full Text Available Thalassemia is a hereditary anemia resulting from defect in hemoglobin production. Beta thalassemia is due to impaired production of beta globin chains, leading to a relative excess of alpha globin chains. The term beta thalassemia minor is used to describe heterozygotes, who carry one normal beta globin allele and one beta thalassemic allele. The vast majority of these patients are asymptomatic. However, a variety of renal tubular abnormalities including hypercalciuria, hypo-magnesemia with renal magnesium wasting, decreased tubular absorption of phosphorus, hypo-uricemia with renal uric acid wasting, renal glycosuria and tubular proteinuria have been described even in patients with beta thalassemia minor. We here in report a 24-year old female patient who was found to have thalassemia minor and nephrocalcinosis with evidence of renal tubular dysfunction. Investigations revealed normal renal function, hypercalciuria, reduced tubular reabsorption of phos-phorus, hypomagnesemia and renal magnesium wasting. Screening for aminoaciduria was found to be negative. An acid loading test revealed normal urinary acidification. Ultrasonogram of the abdomen revealed nephrocalcinosis and splenomegaly. Detailed work up for anemia showed normal white cell and platelet count while peripheral smear showed microcytic hypochromic anemia with few target cells. Hemoglobin electrophoresis revealed hemoglobin A of 92%, hemoglobin A2 of 6.2% and hemo-globin F of 1.8% consistent with beta thalassemia minor. Her parental screening was normal. A diag-nosis of beta thalassemia minor with renal tubular dysfunction was made and the patient was started on thiazide diuretics to reduce hypercalciuria and advised regular follow-up.

Prabahar Murugesan

2008-01-01

102

EXERCISE STRESS ECHOCARDIOGRAPHY WITH TISSUE DOPPLER IMAGING (TDI DETECTS EARLY SYSTOLIC DYSFUNCTION IN BETA-THALASSEMIA MAJOR PATIENTS WITHOUT CARDIAC IRON OVERLOAD  

Directory of Open Access Journals (Sweden)

Full Text Available

Iron Overload Cardiomyopathy (IOC is still the main cause of death in thalassemia major (TM patients. Unfortunately, Conventional Echocardiography fails to predict early cardiac dysfunction. As Tissue Doppler Imaging (TDI may demonstrate regional myocardial dysfunction, we wondered if exercise may reveal abnormalities at TDI which are not evident at rest. To try to evaluate left and right myocardial performances at rest and after maximal exercise by both conventional and TDI parameters, 46 beta-TM adult patients and 39 control subjects were enrolled. All patients had a liver iron quantification by Superconducting Quantum Interference Device (SQUID and also a cardiac iron assessment by MRI (T2*: 38 TM patients had no evidence of cardiac iron overload. Whereas TM patients did not shown diastolic dysfunction and all of them presented a good global response to exercise, TDI detected a reduced increase of the S’ waves of left ventricle basal segment during exercise. This finding seems to have some weak but interesting relations with iron overload markers. In conclusion, in our study, exercise stress TDI-echocardiography was able to demonstrate subtle systolic abnormalities that were missed by Conventional Echocardiography. Further studies are required to determine the meaning and the clinical impact of these results.

Umberto Barbero

2012-01-01

103

Oxidative stress and antioxidant status in beta-thalassemia heterozygotes  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: English Abstract in english Background: Several studies have evaluated the oxidant and antioxidant status of thalassemia patients but most focused mainly on the severe and intermediate states of the disease. Moreover, the oxidative status has not been evaluated for the different beta-thalassemia mutations. Objective: To [...] evaluate lipid peroxidation and Trolox equivalent antioxidant capacity in relation to serum iron and ferritin in beta thalassemia resulting from two different mutations (CD39 and IVS-I-110) compared to individuals without beta-thalassemia. Methods: One hundred and thirty subjects were studied, including 49 who were heterozygous for beta-thalassemia and 81 controls. Blood samples were subjected to screening tests for hemoglobin. Allele-specific polymerase chain reaction was used to confirm mutations for beta-thalassemia, an analysis of thiobarbituric acid reactive species was used to determine lipid peroxidation, and Trolox equivalent antioxidant capacity evaluations were performed. The heterozygous beta-thalassemia group was also evaluated for serum iron and ferritin status. Results: Thiobarbituric acid reactive species (486.24 ± 119.64 ng/mL) and Trolox equivalent antioxidant capacity values (2.23 ± 0.11 mM/L) were higher in beta-thalassemia heterozygotes compared to controls (260.86 ± 92.40 ng/mL and 2.12 ± 0.10 mM/L, respectively; p-value

Luciana de Souza, Ondei; Isabeth da Fonseca, Estevao; Marina Ibelli Pereira, Rocha; Sandro, Percario; Doroteia Rossi Silva, Souza; Marcela Augusta de Souza, Pinhel; Claudia Regina, Bonini-Domingos.

104

Camperdown hemoglobin associated with beta° thalassemia in a Brazilian child  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: English Abstract in english We report the coexistence of Hb Camperdown [beta104 (G6) Arg -> Ser] and beta°-thalassemia [beta39 (Gln -> stop codon)] in a nine-month-old Brazilian boy. He had a relatively more severe hypochromic and microcytic anemia in comparison to his mother's beta-thalassemia trait. His Hb Camperdown heteroz [...] ygous father was clinically and hematologically normal. To our knowledge, this is the first description of an association of beta°-thalassemia with Hb Camperdown.

Tania Regina, Tozetto-Mendoza; Paulo Roberto Santos, Ferreira; Nilcéia Maria, Viviani; Dulcinéia Martins, Albuquerque; Ivana, Rizzi; João Targino de, Araújo.

105

Molecular basis for dominantly inherited inclusion body. beta. -thalassemia  

Energy Technology Data Exchange (ETDEWEB)

Analysis of the molecular basis of dominantly inherited {beta}-thalassemia in four families has revealed different mutations involving exon 3 of the {beta}-globin gene. It is suggested that the phenotypic difference between this condition and the more common recessive forms of {beta}-thalassemia lies mainly in the length and stability of the abnormal translation products that are synthesized and, in particular, whether they are capable of binding heme and producing aggregations that are relatively resistant to proteolytic degradation.

Thein, S.L.; Hesketh, C.; Wood, W.G.; Clegg, J.B.; Old, J.M.; Weatherall, D.J. (John Radcliffe Hospital, Oxford (England)); Taylor, P. (Royal Victoria Infirmary, Newcastle-upon-Tyne (England)); Temperley, I.J. (Saint James' s Hospital, Dublin (Ireland)); Hutchinson, R.M. (Leicester Royal Infirmary (England))

1990-05-01

106

Molecular characterization of beta-thalassemia in the Sardinian population  

Energy Technology Data Exchange (ETDEWEB)

This study reports the molecular characterization of [beta]-thalassemia in the Sardinian population. Three thousand [beta]-thalassemia chromosomes from prospective parents presenting at the genetic service were initially analyzed by dot blot analysis with oligonucleotide probes complementary to the most common [beta]-thalassemia mutations in the Mediterranean at-risk populations. The mutation which remained uncharacterized by this approach were defined by denaturing gradient gel electrophoresis (DGGE) followed by direct sequence analysis on amplified DNA. The authors reconfirmed that the predominant mutation in the Sardinian population is the codon 39 nonsense mutation, which accounts for 95.7% of the [beta]-thalassemia chromosomes. The other two relatively common mutations are frameshifts at codon 6 (2.1%) and at codon 76 (0.7%), relatively uncommon in other Mediterranean-origin populations. In this study they have detected a novel [beta]-thalassemia mutation, i.e., a frameshift at codon 1, in three [beta]-thalassemia chromosomes. The DGGE procedure followed by direct sequencing on amplified DNA is a powerful approach for the characterization of unknown mutations in this genetic system.

Rosatelli, M.C.; Faa, V.; Sardu, R.; Saba, L. Cao, A. (Universita degli Studi, Cagliari (Italy)); Dozy, A.; Kan, Y.W. (University of California, San Franciso (United States)); Meloni, A. (Instituto di Ricerca sulle Talassemie e Anemie Mediterranee CNR, Cagilari (Italy))

1992-02-01

107

Quality of life among Iranian patients with beta-thalassemia major using the SF-36 questionnaire / Qualidade de vida em pacientes iranianos com beta-talassemia maior usando o questionario SF-36  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: English Abstract in portuguese CONTEXTO E OBJETIVO Pacientes com beta-talassemia maior (?-TM) vivenciam problemas físicos, psicológicos e sociais que levam à diminuição da qualidade de vida (QV). O objetivo foi determinar a QV relacionada à saúde e seus determinantes em pacientes com ?-TM, utilizando questionário SF-36 (Short Fo [...] rm-36). TIPO DE ESTUDO E LOCAL Estudo transversal no Centro de Hematologia e Pesquisa em Universidade de Ciências Médicas de Shiraz, no sul do Irã. MÉTODOS Foram selecionados aleatoriamente 101 pacientes com ?-TM. Após registro demográfico e características da doença, eles foram convidados a preencher o questionário SF-36. A correlação entre fatores clínicos e demográficos com escore de QV foi avaliada. RESULTADOS Havia 44 homens e 57 mulheres, com idade média de 19,52 ± 4,3 (variação 12-38) anos. Em duas escalas, dor (P = 0,041) e aspectos emocionais (P = 0,009), as mulheres apresentaram escores significativamente menores aos dos homens. Menor renda, baixa adesão à terapia quelante de ferro e presença de comorbidades foram correlacionadas com escores SF-36 significativamente menores. Esses fatores foram também considerados determinantes de piores escores de SF-36 em análise multivariada. CONCLUSÕES Mostramos que a presença de complicações da doença, a baixa adesão ao tratamento da terapia quelante de ferro e o baixo status econômico são preditores de pior QV em pacientes com ?-TM. Prevenção e manejo adequado das complicações relacionadas com a doença, aumento do conhecimento dos pacientes sobre a importância do gerenciamento de comorbidades e ter maior adesão ao tratamento quelante de ferro, considerando também o apoio psicossocial e financeiro, poderiam ser úteis para melhor lidar com esse estado de doença crônica. Abstract in english CONTEXT AND OBJECTIVE Patients with beta-thalassemia major (?-TM) experience physical, psychological and social problems that lead to decreased quality of life (QoL). The aim here was to measure health-related QoL and its determinants among patients with ?-TM, using the Short Form-36 (SF-36) questi [...] onnaire. DESIGN AND SETTING Cross-sectional study at the Hematology Research Center of Shiraz University of Medical Sciences, in southern Iran. METHODS One hundred and one patients with ?-TM were randomly selected. After the participants' demographics and disease characteristics had been recorded, they were asked to fill out the SF-36 questionnaire. The correlations of clinical and demographic factors with the QoL score were evaluated. RESULTS There were 44 men and 57 women of mean age 19.52 ± 4.3 years (range 12-38). On two scales, pain (P = 0.041) and emotional role (P = 0.009), the women showed significantly lower scores than the men. Lower income, poor compliance with iron-chelating therapy and presence of comorbidities were significantly correlated with lower SF-36 scores. These factors were also found to be determinants of worse SF-36 scores in multivariate analysis. CONCLUSIONS We showed that the presence of disease complications, poor compliance with iron-chelating therapy and poor economic status were predictors of worse QoL among patients with ?-TM. Prevention and proper management of disease-related complications, increased knowledge among patients regarding the importance of managing comorbidities and greater compliance with iron-chelating therapy, along with psychosocial and financial support, could help these patients to cope better with this chronic disease state.

Sezaneh, Haghpanah; Shiva, Nasirabadi; Fariborz, Ghaffarpasand; Rahmatollah, Karami; Mojtaba, Mahmoodi; Shirin, Parand; Mehran, Karimi.

108

Endothelial dysfunction and oxidant status in pediatric patients with hemoglobin E-beta thalassemia.  

Science.gov (United States)

Thalassemia major is characterized by anemia, iron overload, and oxidant damage to major organs, especially the cardiovascular system. Oxidative stress is ultimately involved in endothelial dysfunction, a condition which is evident in adults suffering from various cardiovascular diseases including thalassemia. We investigated endothelial function in pediatric patients with hemoglobin E-beta thalassemia (HbE-beta thalassemia), who have been exposed to excessive iron and oxidative stress for much shorter period than adults with thalassemia. We recruited 22 blood transfusion-dependent HbE-beta thalassemia patients aged 11.8 +/- 2.9 years and 20 healthy controls aged 12.1 +/- 1.7 years. Oxidant status was determined, and endothelial function was assessed by a forearm blood flow technique. Oxidative stress was increased in the thalassemic patients, as blood glutathione (GSH) and ratios of reduced GSH to GSH disulfide were markedly reduced, and superoxide anion released from blood cells was highly elevated. Oxidative stress response, assessed by gamma-glutamylcysteine ligase activity, was increased approximately twofold in thalassemia patients. Basal forearm blood flow was significantly increased in patients compared with controls (7.3 +/- 1.8 vs 6.0 +/- 1.8 ml/100 ml tissue/min, respectively), whereas forearm vasodilatory response to reactive hyperemia was depressed by 50% in patients compared with controls. Endothelial function is impaired in young thalassemia patients, and impaired endothelial function is associated with oxidant stress. PMID:17891513

Kukongviriyapan, Veerapol; Somparn, Nuntiya; Senggunprai, Laddawan; Prawan, Auemduan; Kukongviriyapan, Upa; Jetsrisuparb, Arunee

2008-01-01

109

Premarital Screening of Beta Thalassemia Minor in north-east of Iran  

Directory of Open Access Journals (Sweden)

Full Text Available AbstractBackgroundBeta thalassemia is a preventable disease. Iran has about 20,000Patients who are homozygote for ?-thalassaemia and 3,750,000 carriers. The aim of this study was to determine the prevalence of beta thalassemia minor among men who underwent premarital screening in Quchana city in Khorasan Razavi region of IranMaterials and MethodsThis research is a descriptive cross-sectional study. From 2010 to 2011, all participants (1000 under marriage coming to health center of Quchan underwent routine mandatory tests. Participants were considered to have beta-thalassemia minor on the condition that hey had a mean corpuscular volume (MCV 3.5%. Venous blood was taken into an EDTA tube and the complete blood count and red blood cell indices were measured with a Coulter automated cellcounter. Electrophoresis was performed on cellulose acetate.ResultsMean and SD of hemoglobin, MCV and MCH were 16±2.9, 91±4 and 28.4±2, respectively. Hemoglobin A2 Higher than 3.5 percent was reported as 3.5%.The prevalence of beta-thassemia minor with high hemoglobin A2 and microcytic hypochromic anemia was 3.5% (P-value.ConclusionIn countries with high prevalence of hemoglobinopathies, a premarital screening program is helpful for identification and prevention of high-risk marriages. Detecting carrier couples with premarital screening program is an effective way of controlling thalassemia major.

Noori R MSc

2013-03-01

110

Prevalence of hepatosplenomegaly in beta thalassemia minor subjects in Iran  

Energy Technology Data Exchange (ETDEWEB)

Introduction: Thalassemia is the most common hereditary blood disorder in the world. Iran is located on the thalassemic belt and there is a high prevalence of the hepatosplenomegaly in beta thalassemia minor patients which is reported to be very variable. The goal of this research was to study the frequency of these signs in the cases with beta thalassemia minor patients in Iran. Materials and methods: Two hundred and fifty-nine cases that referred to center for pre-marriage tests were divided into two groups according to their MCV, MCH, and HbA2 (beta thalassemia minor cases and control groups). Liver and spleen sizes were determined by ultrasonographic method and the two groups were compared with each other. Results: Average spleen volumes in case and control groups were 163.48 {+-} 133.97 and 126.29 {+-} 53.98 mm{sup 3}, respectively. Average spleen lengths in case and control groups were 10.71 {+-} 1.52 and 10.60 {+-} 5.4 cm, respectively. Conclusion: In the regions with high frequency of beta thalassemia, in case of finding large spleen size in the ultrasonography, a probable harmless differential diagnosis will be beta thalassemia minor that is not indicative of any serious disease. Volumetric measurement of spleen is more reliable for detection of splenomegaly in these patients.

Karimi, Mehran [Hemostasis and Thrombosis Unit, Hematology Research Center, school of Medicine, Shiraz University of medical sciences, Shiraz (Iran, Islamic Republic of)], E-mail: Karimim@sums.ac.ir; Bagheri, Mohammad Hadi [Department of Radiology, School of Medicine, Shiraz University of Medical Sciences, Shiraz (Iran, Islamic Republic of); Tahmtan, Mehdi [Hemostasis and Thrombosis Unit, Hematology Research Center, school of Medicine, Shiraz University of medical sciences, Shiraz (Iran, Islamic Republic of); Shakibafard, Alireza [Department of Radiology, School of Medicine, Shiraz University of Medical Sciences, Shiraz (Iran, Islamic Republic of); Rashid, Murtaza [Hemostasis and Thrombosis Unit, Hematology Research Center, school of Medicine, Shiraz University of medical sciences, Shiraz (Iran, Islamic Republic of)

2009-01-15

111

A study of membrane protein defects and alpha hemoglobin chains of red blood cells in human beta thalassemia  

Energy Technology Data Exchange (ETDEWEB)

The soluble pool of alpha hemoglobin chains present in blood or bone marrow cells was measured with a new affinity method using a specific probe, beta A hemoglobin chain labeled with ({sup 3}H)N-ethylmaleimide. This pool of soluble alpha chains was 0.067 {plus minus} 0.017% of hemoglobin in blood of normal adult, 0.11 {plus minus} 0.03% in heterozygous beta thalassemia and ranged from 0.26 to 1.30% in homozygous beta thalassemia intermedia. This elevated pool of soluble alpha chains observed in human beta thalassemia intermedia decreased 33-fold from a value of 10% of total hemoglobin in bone marrow cells to 0.3% in the most dense red blood cells. The amount of insoluble alpha chains was measured by using the polyacrylamide gel electrophoresis in urea and Triton X-100. In beta thalassemia intermedia the amount of insoluble alpha chains was correlated with the decreased spectrin content of red cell membrane and was associated with a decrease in ankyrin and with other abnormalities of the electrophoretic pattern of membrane proteins. The loss and topology of the reactive thiol groups of membrane proteins was determined by using ({sup 3}H)N-ethylmaleimide added to membrane ghosts prior to urea and Triton X-100 electrophoresis. Spectrin and ankyrin were the major proteins with the most important decrease of thiol groups.

Rouyer-Fessard, P.; Garel, M.C.; Domenget, C.; Guetarni, D.; Bachir, D.; Colonna, P.; Beuzard, Y. (Institut National de la Sante et de la Recherche Medicale, Creteil (France))

1989-11-15

112

A study of membrane protein defects and alpha hemoglobin chains of red blood cells in human beta thalassemia  

International Nuclear Information System (INIS)

The soluble pool of alpha hemoglobin chains present in blood or bone marrow cells was measured with a new affinity method using a specific probe, beta A hemoglobin chain labeled with [3H]N-ethylmaleimide. This pool of soluble alpha chains was 0.067 ± 0.017% of hemoglobin in blood of normal adult, 0.11 ± 0.03% in heterozygous beta thalassemia and ranged from 0.26 to 1.30% in homozygous beta thalassemia intermedia. This elevated pool of soluble alpha chains observed in human beta thalassemia intermedia decreased 33-fold from a value of 10% of total hemoglobin in bone marrow cells to 0.3% in the most dense red blood cells. The amount of insoluble alpha chains was measured by using the polyacrylamide gel electrophoresis in urea and Triton X-100. In beta thalassemia intermedia the amount of insoluble alpha chains was correlated with the decreased spectrin content of red cell membrane and was associated with a decrease in ankyrin and with other abnormalities of the electrophoretic pattern of membrane proteins. The loss and topology of the reactive thiol groups of membrane proteins was determined by using [3H]N-ethylmaleimide added to membrane ghosts prior to urea and Triton X-100 electrophoresis. Spectrin and ankyrin were the major proteins with the most important decrease of thiol groups

113

The effects of beta-carotene and vitamin E on erythrocytes lipid peroxidation in beta-thalassemia patients  

Directory of Open Access Journals (Sweden)

Full Text Available BACKGROUND: Thalassemia is the most common hereditary disease in the world. Thalassemic erythrocytes are exposed to higher oxidative stress and lipid peroxidation. The aim of this study was to investigate the effects of beta-carotene and vitamin E on erythrocytes lipid peroxidation in beta-thalassemia patients.
METHODS: A prospective double-blind, placebo-controlled study of the effect of beta-carotene and vitamin E on lipid peroxidation in erythrocytes membranes was performed on 120 beta-thalassemia major patients in four groups. The patients were supplemented for 4 weeks as follows: group 1 with beta-carotene (13 mg/day, group 2 with vitamin E (550 mg/day, group 3 with beta-carotene plus vitamin E and group 4 with placebo. We prepared all capsules for 4 roups in the same shape and color. Measurements of serum beta-carotene and vitamin E were performed by high performance
liquid chromatography. After preparation of ghost cells from blood specimens, malondialdehyde (MDA was determined as index of lipid peroxidation in erythrocytes membranes before and after treatment. RESULTS: The levels of serum beta-carotene and vitamin E were significantly lower and MDA concentrations in erythrocytes membranes were significantly higher in beta-thalassemia patients compared to controls (P<0.001. In groups that treated with vitamin supplements for 4-weeks, lipid peroxidation rates were significantly reduced after treatment (P<0.001, but in placebo group there was not significant difference (P>0.05.
CONCLUSIONS: Our findings provide evidence that an oral treatment with beta-carotene and vitamin E can significantly reduce lipid peroxidation of erythrocytes membranes and could be useful in management of beta-thalassemia major patients. KEYWORDS: Beta-thalassemia major, beta-carotene, vitamin E, malondialdehyde, lipid peroxidation.

Soleiman Mahjoub

2007-12-01

114

[The detection of beta-thalassemia minor (author's transl)].  

Science.gov (United States)

A statistical analysis was done on the levels of Hb A2 and Hb F in 1 340 normal subjects and 356 subjects heterozygous for beta-thalassemia. This study revealed that both groups had a normal distribution of Hb A2 and a gaussologarithmic distribution of Hb F. The plotted curves show an overlapping zone between the two populations. This area lies between 3.0% and 3.5% Hb A2 and between 0.2% and 1.0% Hb F. More than 97% of the heterozygotes for beta-thalassemia have a Hb A2 level situated outside the overlapping region, which permits diagnosis. Of the remaining 3%, only the "silent carriers" do not manifest the usual hematological characteristics of beta-thalassemia minor (hypochromia, microcytosis, diminished osmotic fragility, and erythrocytes with basophilic stippling). To diagnose this group it is necessary to determine globulin chain synthesis. This test is reserved for those subjects considered as "high risks." PMID:7208347

Beris, P; Boreux, G; Klein, D; Miescher, P A

1980-01-01

115

Spinal cord compression due to extramedullary hematopoiesis in beta-thalassemia intermedia  

International Nuclear Information System (INIS)

Background: Extramedullary hematopoiesis (EMH) occurs in many disorders, including thalassemias and other hemoglobinopathies, and commonly presents in the spleen and liver. We present a case of spinal cord compression in a patient with beta-thalassemia intermedia, and review the literature and available treatment options. Patient and Methods: A 35-year-old black female with beta-thalassemia intermedia presented with a 3-week history of back pain and lower extremity weakness. Neurologic examination was consistent with spinal cord compression, and gadolinium enhanced magnetic resonance imaging (MRI) confirmed this diagnosis. She was given intravenous steroids and radiotherapy was begun in 200 cGy fractions to a total dose of 2000 cGy. Results: At the completion of radiotherapy the patient was ambulatory with mild residual weakness. MRI scans 16 months later showed smaller, but persistent masses, and she remains asymptomatic 5 years from her diagnosis. Conclusion: Recognition of spinal cord EMH requires prompt physical examination and MRI for accurate diagnosis. EMH can be managed with radiation, surgery, transfusions, or a combination of these therapies. Radiation in conservative doses of (750-3500 cGy) is non-invasive, avoids the surgical risks of potentially severe hemorrhage and incomplete resection, and has a high complete remission rate in the majority of patients. Relapse rates are moderate (37.5%), but retreatment provides excellent chance for second remissions excellent chance for second remission

116

Extraosseous radiotracer uptake on bone scan in beta-thalassemia: report of one case  

International Nuclear Information System (INIS)

Red blood cell transfusion, main therapeutic modality of beta-thalassemia, leads to iron overload which may perturb several metabolic ways. The aim of this paper is to illustrate the uptake abnormalities observed on bone scan of thalassaemic patients and to discuss mechanisms of extraosseous accumulation of the radiopharmaceutical in this pathology. We report a 16-year-old child suffering from beta-thalassemia major undergoing transfusion therapy. A bone scan was indicated to look for osseous infection. This study revealed a little skeletal uptake and abnormal liver, splenic and renal accumulation. A repeat bone scan, performed three weeks later showed a better skeletal uptake which enabled the discovery of focal abnormalities and made the diagnostic easier. The effect of iron overload on radiopharmaceuticals uptake in bone scan is known since 1975. Dissociation of 99mTc from the carrier ligand due to the presence of iron excess seems the most plausible hypothesis. Free 99mTc can be bound to other tissular substrates which can explain extraosseous uptake. The normally available pool for bone is reduced and then the skeletal uptake decreased. This report limits considerably the sensitivity of the bone scan. A well-led iron chelation and eventually the use of diuretic drug may guarantee a better quality of bone scan images. (authors)

117

The liver in patients with [beta]-thalassemia major. Determination of iron concentration with Magnetic Resonance Imaging. Il fegato dei pazienti affetti da [beta]-talassemia major. Determinazione della concentrazione di ferro con Risonanza Magnetica  

Energy Technology Data Exchange (ETDEWEB)

The paper investigates the clinical usefulness of liver MRI in a large multicenter study because the control of iron concentration (LIC) is crucial in thalassemia major (TM) prognosis and conflicting results have been reported in small and heterogeneous groups of patients using MRI, the only very common non-invasive procedure. One hundred and eight consecutive TM patients, selected according to a specific protocol, were included in the study. This study shows that LIC can be calculated as a function of SIR. A validation study is necessary before introducing this prediction rule in clinical practice.

Midiri, M. (Bari, Policlinico Univ. (Italy). Ist. di Radiologia); Gallo, C.; Finazzo, M. (Palermo, Policlinico Univ. ' P. Giaccone' (Italy). Ist. di Radiologia ' Pietro Cignolini' )

118

Investigation of RBC Indices and HbA2 Levels in Parents of Beta-Thalassemia Patients: Impacts on Premarital Genetic Counseling  

Directory of Open Access Journals (Sweden)

Full Text Available Objective: This study was designed to investigate RBC indices and HbA2 levels in parents of major beta-thalassemia patients to detect possible silent beta- thalassemia carriers and examine its potential impact on the premarital genetic counseling.Materials and Methods: This cross sectional study was performed at Children Medical Center from 2004 to 2006. After genetic counseling and getting informed consent, peripheral blood sampling was carried out on 185 carrier parents of regularly blood transfused thalassemia children. Then RBC indices and HbA2 concentration were measured. Samples with MCV and MCH higher than and/or HbA2 lower than cut off values were rechecked. Results: In one case, MCV and MCH indices were within the limits defined for non beta- thalassemia carriers. Furthermore, four other cases were found to have decreased values of MCV and MCH but normal HbA2 levels."nConclusion: About 3% of beta-thalassemia carriers in our country may potentially be missed using current screening methods. Further studies are required to assess the need for presenting a new threshold for thalassemia carrier screening. Defining the causative mutations using molecular methods would pave the way for establishing a protocol for a premarital screening program in conditions when one of couples is a confirmed carrier.

Mina Izadyar

2007-06-01

119

COMBINED USE OF ERYTHROCYTE ZINC PROTOPORPHYRINE AND MCV: DIFFERENTIATION OF BETA THALASSEMIA FROM IRON DEFICIENCY ANEMIA  

Directory of Open Access Journals (Sweden)

Full Text Available Introduction: Due to the prevalence of beta thalassemia and iron deficiency anemia in Irana need for an accurate, quick, inexpensive and simple method for differential diagnosis between these two disorders is felt. In this study the value of zpp measurement as a tool to distinguish iron deficiency from heterozygous beta thalassemia in microcrystal patients was evaluated. Methods: In this study on 140 persons with microcytosis, the hemoglobin electrophoresis, serum iron, TIBC and serum ferritin and protoporphyrine relating to zinc (ZPP were measured. Results: ZPP had been increased in all iron deficient patients and in 53 percent of Heterozygote beta thalassemia patients. Using combination of MCV and ZPP in iron deficient anemic patients and heterozygote beta thalassemia show the 99 percent accuaracy in differentiation of these two disorders. Discussion: According to the results, this method has better accuracy than red blood cells formulation in the screening programs for beta thalassemia and iron defficiency anemia.

H KHOSHAMOOZ

2001-12-01

120

[Beta-thalassemia and glucose-6-phosphate dehydrogenase deficiency].  

Science.gov (United States)

Twenty subjects--patients with anemia and their close relatives representing 7 families, were tested for thalassemia. Heterozygotic beta-thalassemia was detected in 17 cases. The national composition of this patient population was as follows: 7 Pathans (Afghanistan), 1 family; 2 Armenians (Georgia), mother and son; 2 Tajiks, sibs; 2 patients of mixed Russian-Ukrainian-Polish-Azerbaijan origin, mother and son; 1 Russian-Arab child and his Arab father (Syria); 1 Uzbek woman and 1 Russian child. The mean content of Hb in the blood for patients with heterozygotic beta-thalassemia is 110 +/- 3.8 g/liter, that of HbA2 fraction 4.8 +/- 0.26% and of HbF fraction 2.6 +/- 0.39%. Clinical manifestations of the disease varied, being more grave in children than in adults. In an Armenian family from Batumi thalassemia minor was diagnosed in the mother and son, whereas in the father and other son a periodic disease was revealed. In a family of 7 members from Afghanistan thalassemia minor was found in 4 representing the paternal line, minimal thalassemia was suspected in 3, and a deficiency of glucose-6-phosphate dehydrogenase in red blood cells was revealed in 5: in the mother and 4 children. No increase of methemoglobin level was revealed in either of the examinees. PMID:9044721

Troitskaia, O V; Ermil'chenko, G V; Levitskaia, S V; Varzieva, L K

1996-01-01

 
 
 
 
121

Molecular characterization of beta-thalassemia in Pakistan.  

Science.gov (United States)

Beta-thalassemia is one of the most common inherited hemoglobin disorders in Pakistan. The carrier frequency is estimated to be 5.4%. To determine the spectrum of beta-globin gene defects causing beta-thalassemia, we have analyzed a representative sample of 602 alleles from six ethnic groups in Pakistan; 99.2% alleles were characterized, while 0.8% remained unidentified. The spectrum of mutations is heterogeneous and we have found 19 different mutations in all ethnic groups. The four most common mutations, IVS-I-5 (G-->C) (37.7%), codons 8/9 (+G) (21.1%), the 619 bp deletion (12.4%), and IVS-I-1 (G-->T) (9.5%), account for 80.7% of the alleles. There are differences between the ethnic groups and also between provinces. In the four provinces of Pakistan, the IVS-I-5 (G-->C) mutation is more prevalent in Sindh and Balochistan, bordering India in the south and Iran in the southwest, while the codons 8/9 (+G) mutation is more common in the Punjab and the North West Frontier Province, bordering India in the northeast and Afghanistan, respectively. The 619 bp deletion is high (46%) in Gujratis and Memons residing in the Province of Sindh, neighboring the Indian Gujrat. PMID:9730364

Khan, S N; Riazuddin, S

1998-07-01

122

Diffuse Hepatic Calcifications in a Transfusion-Dependent Patient with Beta-Thalassemia: A Case Report  

Directory of Open Access Journals (Sweden)

Full Text Available Hepatic calcification is usually associated with infectious, vascular, or neoplastic processes in the liver. We report the first case of beta-thalassemia major with isolated diffuse hepatic calcification in a 23 year old woman, who had been transfusion-dependent since the age of 6 months. She was referred to our center with a chief complaint of abdominal pain. Computed tomography scan of the abdomen revealed diffuse hepatic calcification in the right, left, and caudate lobes of the liver. Her medical history disclosed hypoparathyroidism as well as chronic hepatitis C virus infection, which was successfully treated but led to early micronodular cirrhosis on liver biopsy. Other studies done to search for the cause of hepatic calcification failed to reveal any abnormalities. We suspect that hypoparathyroidism caused liver calcification, and should be, therefore, considered in the differential diagnosis of hepatic calcification if other causative factors have been ruled out.

Forough Saki

2013-09-01

123

Diffuse hepatic calcifications in a transfusion-dependent patient with Beta-thalassemia: a case report.  

Science.gov (United States)

Hepatic calcification is usually associated with infectious, vascular, or neoplastic processes in the liver. We report the first case of beta-thalassemia major with isolated diffuse hepatic calcification in a 23 year old woman, who had been transfusion-dependent since the age of 6 months. She was referred to our center with a chief complaint of abdominal pain. Computed tomography scan of the abdomen revealed diffuse hepatic calcification in the right, left, and caudate lobes of the liver. Her medical history disclosed hypoparathyroidism as well as chronic hepatitis C virus infection, which was successfully treated but led to early micronodular cirrhosis on liver biopsy. Other studies done to search for the cause of hepatic calcification failed to reveal any abnormalities. We suspect that hypoparathyroidism caused liver calcification, and should be, therefore, considered in the differential diagnosis of hepatic calcification if other causative factors have been ruled out. PMID:24174700

Saki, Forough; Bordbar, Mohammad Reza; Imanieh, Mohammad Hadi; Karimi, Mehran

2013-09-01

124

GENETIC AND ELECTROPHORETIC STUDY OF TWO FAMILIES WITH BETA-THALASSEMIA  

Directory of Open Access Journals (Sweden)

Full Text Available 19 cases of beta-thalassemia (2 homozygotes and 17 heterozygotes were finding out in a large family in the district of Vaslui by biochemical and genetical metods. For a better estimation of the status of two homozygote patients as well as for the selection of suitable treatment procedures, radiological and hematological investigations were performed. The usefulness of the application of electrophoretic techniques in the finding of beta-thalassemia heterozygotes is pointed out and also is underlined the necessity to undertake studies of selected groups of human population in order to obtain a better estimation of beta-thalassemias frequency in south-west Romania.

I.Capalnasan

1999-01-01

125

Therapeutic Value of Combined Therapy with Deferasirox and Silymarin on Iron Overload in Children with Beta Thalassemia  

Science.gov (United States)

Background Beta thalassemia is an inherited hemoglobin disorder resulting in a severe, chronic anemia requiring life-long blood transfusion that induces iron overload. Silymarin is a flavonoid complex isolated from Silybin marianum with a strong antioxidant activity, inducing an hepatoprotective action, and probably, a protective effect on iron overload. The aim of this work was to determine the silymarin value in improving iron chelation in thalassemic patients with iron overload treated with Deferasirox. Patients and Methods This study was conducted on 40 children with beta thalassemia major under follow-up at Hematology Unit, Pediatric Department, Tanta University Hospital with serum ferritin level more than 1000 ng/ml and was divided into two groups. Group IA: Received oral Deferasirox (Exjade) and silymarin for 6 months. Group IB: Received oral Deferasirox (Exjade) and placebo for 6 months and 20 healthy children serving as a control group in the period between April 2011 and August 2012 and was performed after approval from research ethical committee center in Tanta University Hospital and obtaining an informed written parental consent from all participants in this study. Results Serum ferritin levels were markedly decreased in group IA cases compared with group IB (P= 0.001). Conclusion From this study we concluded that, silymarin in combination with Exjade can be safely used in the treatment of iron-loaded thalassemic patients as it showed good iron chelation with no sign of toxicity. Recommendations We recommend extensive multicenter studies in a large number of patients with longer duration of follow-up and more advanced techniques of assessment of iron status in order to clarify the exact role of silymarin in reducing iron overload in children with beta thalassemia. PMID:24363880

Hagag, Adel A.; Elfrargy, Mohamed S; Gazar, Rana A.; El-Lateef, Aml Ezzat Abd

2013-01-01

126

Deniz: the electronic database for beta-thalassemia mutations in the Arab world.  

Directory of Open Access Journals (Sweden)

In addition to its importance as a hub of updated information on the distribution of beta-thalassemia mutations in Arabs, information in Deniz may be used to predict diagnostic strategies that may be offered to natives of unstudied countries. Incidence data may also give important clues on the possible origins of beta-thalassemia in the Arab world. The integration of Deniz with other databases is currently in process and researchers are invited to contribute to the growth of the database.

Ghazi O. Tadmouri

2003-11-01

127

Marcadores eletrocardiográficos para detecção precoce de doença cardíaca em pacientes com talassemia beta maior / Electrocardiographic markers for the early detection of cardiac disease in patients with beta-thalassemia major  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: Portuguese Abstract in portuguese OBJETIVO: Analisar comparativamente a dispersão da onda P (DOP) em pacientes com talassemia beta maior (?-TM) e indivíduos saudáveis (controles) para a detecção precoce do risco de arritmias. MÉTODOS: Oitenta e uma crianças com ?-TM, com idades entre 4 e 19 anos, e 74 crianças saudáveis (grupo contr [...] ole) foram submetidas a exame eletrocardiográfico e ecocardiograma transtorácico de rotina para avaliação cardíaca. A DOP foi calculada como a diferença entre as durações máxima e mínima da onda P. RESULTADOS: Houve uma diferença estatisticamente significativa entre o grupo de estudo e o grupo controle no pico de velocidade do fluxo transmitral no início da diástole (E) e na razão E/fluxo transmitral tardio (A). A duração máxima da onda P e a DOP foram significativamente maiores nos pacientes com ?-TM do que nos indivíduos controles. CONCLUSÕES: O aumento da DOP em nossos pacientes com ?-TM pode estar relacionado à depressão na condução intra-atrial, devido à dilatação atrial, e ao aumento da atividade simpática. Estes pacientes devem ser acompanhados atentamente devido à possibilidade de ocorrência de arritmias com risco de vida. Abstract in english OBJECTIVE: To comparatively evaluate P-wave dispersion (PWD) in patients with ?-thalassemia major (TM) and healthy control subjects for the early prediction of arrhythmia risk. METHODS: Eighty-one children with ?-TM, aged 4-19 years, and 74 healthy children (control group) underwent routine electroc [...] ardiography and transthoracic echocardiography for cardiac evaluation. PWD was calculated as the difference between the maximum and the minimum P-wave duration. RESULTS: There was a statistically significant difference between study and control groups in peak early (E) mitral inflow velocity and E/late (A) velocity ratio. Maximum P-wave duration and PWD were found to be significantly higher in ?-TM patients than in control subjects. CONCLUSIONS: Increased PWD in our ?-TM patients might be related to depression of intra-atrial conduction due to atrial dilatation and increased sympathetic activity. These patients should be closely followed up for risk of life-threatening arrhythmias.

Kemal, Nisli; Yavuz, Taner; Oner, Naci; Salcioglu, Zafer; Karakas, Zeynep; Dindar, Aygun; Umrah, Aydogan; Rukiye, Eker; Turkan, Ertugrul.

128

Marcadores eletrocardiográficos para detecção precoce de doença cardíaca em pacientes com talassemia beta maior / Electrocardiographic markers for the early detection of cardiac disease in patients with beta-thalassemia major  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: Portuguese Abstract in portuguese OBJETIVO: Analisar comparativamente a dispersão da onda P (DOP) em pacientes com talassemia beta maior (?-TM) e indivíduos saudáveis (controles) para a detecção precoce do risco de arritmias. MÉTODOS: Oitenta e uma crianças com ?-TM, com idades entre 4 e 19 anos, e 74 crianças saudáveis (grupo contr [...] ole) foram submetidas a exame eletrocardiográfico e ecocardiograma transtorácico de rotina para avaliação cardíaca. A DOP foi calculada como a diferença entre as durações máxima e mínima da onda P. RESULTADOS: Houve uma diferença estatisticamente significativa entre o grupo de estudo e o grupo controle no pico de velocidade do fluxo transmitral no início da diástole (E) e na razão E/fluxo transmitral tardio (A). A duração máxima da onda P e a DOP foram significativamente maiores nos pacientes com ?-TM do que nos indivíduos controles. CONCLUSÕES: O aumento da DOP em nossos pacientes com ?-TM pode estar relacionado à depressão na condução intra-atrial, devido à dilatação atrial, e ao aumento da atividade simpática. Estes pacientes devem ser acompanhados atentamente devido à possibilidade de ocorrência de arritmias com risco de vida. Abstract in english OBJECTIVE: To comparatively evaluate P-wave dispersion (PWD) in patients with ?-thalassemia major (TM) and healthy control subjects for the early prediction of arrhythmia risk. METHODS: Eighty-one children with ?-TM, aged 4-19 years, and 74 healthy children (control group) underwent routine electroc [...] ardiography and transthoracic echocardiography for cardiac evaluation. PWD was calculated as the difference between the maximum and the minimum P-wave duration. RESULTS: There was a statistically significant difference between study and control groups in peak early (E) mitral inflow velocity and E/late (A) velocity ratio. Maximum P-wave duration and PWD were found to be significantly higher in ?-TM patients than in control subjects. CONCLUSIONS: Increased PWD in our ?-TM patients might be related to depression of intra-atrial conduction due to atrial dilatation and increased sympathetic activity. These patients should be closely followed up for risk of life-threatening arrhythmias.

Kemal, Nisli; Yavuz, Taner; Oner, Naci; Salcioglu, Zafer; Karakas, Zeynep; Dindar, Aygun; Umrah, Aydogan; Rukiye, Eker; Turkan, Ertugrul.

2010-04-01

129

Pregnancy Outcome of Chorionic Villus Sampling on 260 Couples with Beta- Thalassemia Trait in North of Iran  

Directory of Open Access Journals (Sweden)

Full Text Available "nChorionic villus sampling (CVS is a new method and its true risk of fetal loss and complications is not still clearly determined. The objective of this study was to review the clinical pregnancy outcome of transabdominal CVS (TA-CVS performed on women with minor beta thalassemia. TA-CVS performed on 300 women with a singleton pregnancy and we could follow 213 women until delivery. Data regarding induced legal abortion, spontaneous abortion, vaginal leakage, Vaginal bleeding and deformity of extremities ( limb reduction were obtained by questionnaire in five years. All CVS were performed by one operator. The mean gestation at time of CVS was 82.4±11.3 days. 79.2% of the procedures were made between 10-13 completed weeks and in other women (20.7% TA-CVS was performed at 13-16 weeks. The majority (86.9% required only one puncture. There were 47 pregnancy terminations because of fetal major beta thalassemia diagnosis (18 %. The rate of spontaneous abortion in our study was over ally (1.4% and in two patients vaginal bleeding was noticed. We didn't find any vaginal leakage and limb reduction in our survey. TA-CVS is an accurate and safe procedure in experienced hands. It should be considered as one of the safe available procedures for women who require prenatal genetic diagnosis and wish to receive earlier diagnostic information for probable termination of pregnancy.

Nesa Asnafi

2010-05-01

130

Renal complications of beta-thalassemia major in children  

Science.gov (United States)

The success that has been made in the care of patients with thalassemia has led to the emergence of unrecognized complications including several renal abnormalities. Chronic anemia and iron overload as well as the use of iron chelator are believed to lie behind these abnormalities. Many investigators document the presence of tubular dysfunction and abnormalities in glomerular filtration rate in these patients. In this review we will discuss the updates in the diagnosis, pathogenesis and prevention of renal complications of thalassemia.

Bakr, Ashraf; Al-Tonbary, Youssef; Osman, Ghada; El-Ashry, Rasha

2014-01-01

131

Hematopoietic Stem Cell Transplantation in Patients with Beta Thalassemia Major  

Directory of Open Access Journals (Sweden)

Full Text Available Hemoglobinopathies include an enormous patient population in south part of Turkey. Allogeneic hematopoietic stem cell transplantation is only curative treatment in thalassemia. Optimal medical therapy is very important in the years before transplant to achieve a successful transplantation. In this study, the indications, risk factors, results and the situation related with hematopoietic stem cell transplantation in thalassemia in Turkey was reviewed.

M. Akif Yesilipek

2014-02-01

132

Renal complications of beta-thalassemia major in children.  

Science.gov (United States)

The success that has been made in the care of patients with thalassemia has led to the emergence of unrecognized complications including several renal abnormalities. Chronic anemia and iron overload as well as the use of iron chelator are believed to lie behind these abnormalities. Many investigators document the presence of tubular dysfunction and abnormalities in glomerular filtration rate in these patients. In this review we will discuss the updates in the diagnosis, pathogenesis and prevention of renal complications of thalassemia. PMID:25232499

Bakr, Ashraf; Al-Tonbary, Youssef; Osman, Ghada; El-Ashry, Rasha

2014-01-01

133

Nitroblue tetrazolium test in patients with beta-thalassemia major.  

Directory of Open Access Journals (Sweden)

This study indicates that neutrophil activity in thalassemic patients was significantly lower, compared to the normal control group, especially in young patients. Based on the results, evaluation of neutrophil function, and pyogenic infections in TM patients seems necessary.

Javad Ghaffari

2008-11-01

134

RNA processing errors in patients with beta-thalassemia.  

Science.gov (United States)

We have developed a method that permits rapid identification of the consequences of mutations that alter beta-globin RNA processing in erythroid cells. S1 nuclease mapping techniques were used to analyze total bone marrow RNA obtained fron 15 patients who are clinically homozygous for beta-thalassemia and from 5 patients with erythroid hyperplasia from other causes. This analysis was facilitated by the use of single-stranded uniformly labeled DNA probes of high specific activity that were prepared by using recombinant phage M13-beta-globin DNA templates. Two abnormalities of RNA processing were found to occur with high frequency in these patients. Nine thalassemic patients were found to have increased levels of an RNA species that retains all sequences transcribed from intervening sequence 1, implying the presence of mutations that decrease the correct splicing of this intron. Seven of 15 thalassemic patients were found to have an abnormally processed RNA species that retains 19 nucleotides transcribed from the 3' end of intron 1; this abnormality is caused by the G leads to A substitution in intron 1 that is known to create an alternative splice acceptor site. Images PMID:6956887

Ley, T J; Anagnou, N P; Pepe, G; Nienhuis, A W

1982-01-01

135

Valores de ferritina sérica em beta talassemia heterozigota / Serum ferritin levels in beta thalassemia carrier  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: Portuguese Abstract in portuguese [...] Abstract in english A low iron level, the commonest nutritional deficiency in the world, is a public health problem in developing countries. On the other hand, an excessive amount of iron is toxic, causing several organic dysfunctions, such as diabetes, cirrhosis, endocrinopathies and heart disease. Researchers have re [...] ported an association of iron overload with beta-thalassemia. The aim of this paper was to compare the serum ferritin levels of women with the beta-thalassemia trait. The results of serologic tests of 137 women of childbearing age were analyzed; 63 had the beta-thalassemia trait and 74 had Hb AA. In the beta-thalassemia carriers, the median ferritin value was 51.90 ng/mL and in the non-carriers 31.60 ng/mL (p = 0.0052). Levels of less than 20 and above 150 ng/mL were observed in 28% and 3% of the non-carriers and in 16% and 11% of the carriers, respectively. With these results it is possible to conclude that women in the reproductive age with the beta-thalassemia trait present higher ferritin levels in the northeastern region of São Paulo State. Further studies are necessary to clarify possible genetic and/or environment factors which interfere in iron absorption.

Isabeth F., Estevão; Maria Cristina S., Souza; Antonio J., Manzato; Claudia R., Bonini-Domingos.

136

Valores de ferritina sérica em beta talassemia heterozigota Serum ferritin levels in beta thalassemia carrier  

Directory of Open Access Journals (Sweden)

Full Text Available A low iron level, the commonest nutritional deficiency in the world, is a public health problem in developing countries. On the other hand, an excessive amount of iron is toxic, causing several organic dysfunctions, such as diabetes, cirrhosis, endocrinopathies and heart disease. Researchers have reported an association of iron overload with beta-thalassemia. The aim of this paper was to compare the serum ferritin levels of women with the beta-thalassemia trait. The results of serologic tests of 137 women of childbearing age were analyzed; 63 had the beta-thalassemia trait and 74 had Hb AA. In the beta-thalassemia carriers, the median ferritin value was 51.90 ng/mL and in the non-carriers 31.60 ng/mL (p = 0.0052. Levels of less than 20 and above 150 ng/mL were observed in 28% and 3% of the non-carriers and in 16% and 11% of the carriers, respectively. With these results it is possible to conclude that women in the reproductive age with the beta-thalassemia trait present higher ferritin levels in the northeastern region of São Paulo State. Further studies are necessary to clarify possible genetic and/or environment factors which interfere in iron absorption.

Isabeth F. Estevão

2010-01-01

137

Genotyping of beta thalassemia trait by high-resolution DNA melting analysis.  

Science.gov (United States)

Beta thalassemia is a common hereditary hemalogogical disease in Thailand, with a prevalence of 5-8%. In this study, we evaluated the high resolution DNA melting (HRM) assay to identify beta thalassemia mutation in samples from 143 carriers of the beta thalassemia traits in at risk couples. The DNA was isolated from venous blood samples and tested for mutation under a series of 5 PCR-HRM (A, B, C, D and E primers) protocols. The A primers were for detection of beta thalassemia mutations in the HBB promoter region, the B primers for mutations in exon I, the C primers for exon II, the D primers for exon III and the E primers for the 3.4 kb deletion mutation. The mutations were diagnosed by comparing the complete melting curve profiles of a wild type control with those for each mutant sample. With the PCR-HRM technique, fourteen types of beta thalassemia mutations were detected. Each mutation had a unique and specific melting profile. The mutations included 36.4% (52 cases) codon 41/42-CTTT, 26.6% (38 cases) codon 17 A-T, 11.2% (16 cases) IVS1-1 G-T, 8.4% (12 cases) codon 71/72 +A, 8.4% (12 cases) of the 3.4 kb deletion and 3.5% (5 cases) -28 A-G. The remainder included one instance each of -87 C-A, -31 A-C, codon 27/28 +C, codon 30 G-A, IVS1-5 G-C, codon 35 C-A, codon 41-C and IVSII -654 C-T. Of the total cases, 85.8% of the mutations could be detected by primers B and C. The PCR-HRM method provides a rapid, simple and highly feasible strategy for mutation screening of beta thalassemia traits. PMID:24450243

Saetung, Rattika; Ongchai, Siriwan; Charoenkwan, Pimlak; Sanguansermsri, Torpong

2013-11-01

138

Spinal cord compression in {beta}-thalassemia: follow-up after radiotherapy  

Energy Technology Data Exchange (ETDEWEB)

Spinal cord compression due to extramedullary hematopoiesis is a well-described bu rare syndrome encountered in several hematologic disorders, including {beta}-thalassemia. We report a case of a patient with intermediate {beta}-thalassemia and crural paraparesis due to spinal cord compression by a paravertebral extramedullary mass. She was successfully treated with low-dose radiotherapy and transfusions. After splenectomy, she was regularly followed up for over four years without transfusion or recurrence of spinal cord compression. Extramedullary hematopoiesis should be investigated in patients with hematologic disorders and spinal cord symptoms. The rapid recognition and treatment with radiotherapy can dramatically alleviate symptoms. (author)

Fonseca, Silvana Fahel da; Figueiredo, Maria Stella; Cancado, Rodolfo Delfini; Nakadakare, Fernando; Segreto, Roberto; Kerbauy, Jose [Universidade Federal de Sao Paulo (UNIFESP), SP (Brazil). Escola Paulista de Medicina

1998-12-01

139

Beta globin gene cluster haplotypes of the beta thalassemia mutations observed in the Denizli province of Turkey  

Directory of Open Access Journals (Sweden)

Full Text Available Objective: Our aim was to identify the beta globin gene cluster haplotypes for the beta thalassemia mutations in Turkey on a regional level. Beta thalassemia mutations included in this study were IVS-I-110 (G>A, FSC 8/9 (+G, IVS-II-1 (G>A, IVS-I-5 (G>C, IVS-I-1 (G>A, IVS-I-6 (T>C, and FSC 8 (-AA. Methods: We studied 22 unrelated patients with ?-thalassemia major and 72 unrelated healthy subjects from our Department’s DNA bank. Haplotype analysis was done by polymerase chain reaction (PCR-based restriction enzyme digestion for the beta globin gene cluster of the following polymorphic restriction sites: Hinc II 5’ to ?, Hind III 5’ to G?, Hind III in the IVS-II 5’ to A?, Hinc II in pseudo ?, Hinc II 3’ to pseudo ?, Ava II in ?, and Hinf I 3’ to ?. Associated haplotypes for the normal control samples (72 individuals, 144 chromosomes were determined by Arlequin 3.1 software with unknown gametic phase.Results: According to the results obtained, the most frequent beta globin gene cluster haplotypes in the normal population were (+----++, (+----+-, (-+-++++, and (+-----+, with frequencies of 28.6%, 17.2%, 9.8%, and 8.3%, respectively. IVS-I-110 mutation was linked with the haplotypes (+----++ and (+-----+. Observed haplotypes were (+----++ for FSC 8/9 (+G, (-+-+++- for IVS-II-1 (G>A, (-+-++-+ and -+-++++ for IVS-I-5 (G>C, (+----+- and +------ for IVS-I-1 (G>A, (-++---+ for IVS-I-6 (T>C, and (+-----+ for FSC 8 (-AA.Conclusion: Our region shows the Mediterranean character for the beta thalassemia mutations. According to the obtained results, IVS-I-110 (G>A mutation linked with haplotype VII (+-----+, IVS-I-5 (G>C mutation with haplotype IV (-+-++-+, and codon 8/9 (+G with haplotype I (+----++ were shown for the first time in the Turkish population. The linkage of haplotype (+------ with the IVS-I-1 (G>A mutation is reported for the first time in the published literature. In the Denizli province of Turkey, beta globin gene cluster haplotypes of the normal population are strongly associated with the haplotypes of I (+----++, V (+----+- and IX (-+-++++, respectively.

Anzel Bahad?r

2009-09-01

140

Prenatal diagnosis of beta-thalassemia in the West Bank and Gaza.  

Directory of Open Access Journals (Sweden)

We found very good acceptability for prenatal diagnosis in beta-thalassemia afflicted families. All couples with affected fetuses opted for abortion. The spectrum of mutations in the tested couples revealed several similarities to neighboring countries with -88 promoter mutation reported for the first time in our region.

Suhail K. Ayesh

2005-11-01

 
 
 
 
141

Distribution of Hepatitis C Virus Genotypes Amongst the Beta-thalassemia Patients in North of Iran  

Directory of Open Access Journals (Sweden)

Full Text Available Beta-thalassemia patients have high prevalence for HCV infection. In developing countries, HCV antibody is reported to be high in this group of patients. This study carried out to determine the distribution of HCV genotypes amongst the beta-thalassemia patients in North of Iran. The present study has been carried out between February and March 2010 amongst a group of 245 beta-thalassemia patients (125 male and 120 female referred to the hospitals Mazandaran and Guilan provinces for a blood transfusion. Qualitative analysis of these samples using ELISA and PCR. The PCR positive samples were subjected to genotyping by RFLP method. Of total 245 beta-thalassemia patients who were the subjects of this study, 28 of these patients were diagnosed through PCR test to have RNA virus. For this reason, the prevalence of this illness in this study group was estimated as 11.42%. By using the RFLP technique, the above genotyping were identified and the prevalence of three genotypes, including 3a, 1a and 1b were proved. The genotype 3a was most prevalent. Out of 28 positive samples, 18 (64.3% samples had this genotype. After that, genotype 1a with 9 positive occurrences (32.1% and genotype 1b with only 1 positive occurrence (3.6% were most prevalent. This study demonstrated that the main reason the beta-thalassemia patients became infected with the genotype of the virus was due to receiving infected blood that entered into Iran during the past two decades.

Maryam Farahani

2012-01-01

142

Distribution of hepatitis C virus genotypes amongst the beta-thalassemia patients in North of Iran.  

Science.gov (United States)

Beta-thalassemia patients have high prevalence for HCV infection. In developing countries, HCV antibody is reported to be high in this group of patients. This study carried out to determine the distribution of HCV genotypes amongst the beta-thalassemia patients in North of Iran. The present study has been carried out between February and March 2010 amongst a group of 245 beta-thalassemia patients (125 male and 120 female) referred to the hospitals Mazandaran and Guilan provinces for a blood transfusion. Qualitative analysis of these samples using ELISA and PCR. The PCR positive samples were subjected to genotyping by RFLP method. Of total 245 beta-thalassemia patients who were the subjects of this study, 28 of these patients were diagnosed through PCR test to have RNA virus. For this reason, the prevalence of this illness in this study group was estimated as 11.42%. By using the RFLP technique, the above genotyping were identified and the prevalence of three genotypes, including 3a, 1a and 1b were proved. The genotype 3a was most prevalent. Out of 28 positive samples, 18 (64.3%) samples had this genotype. After that, genotype 1a with 9 positive occurrences (32.1%) and genotype 1b with only 1 positive occurrence (3.6%) were most prevalent. This study demonstrated that the main reason the beta-thalassemia patients became infected with the genotype of the virus was due to receiving infected blood that entered into Iran during the past two decades. PMID:24171261

Ghane, Masood; Eghbali, Mina; Nejad, Hamid Reza; Saeb, Kivan; Farahani, Maryam

2012-08-01

143

Prevalence of Beta-Thalassemia in premarital screening in Al-Hassa, Saudi Arabia  

International Nuclear Information System (INIS)

The Al-Hassa area is one of the regions in Saudi Arabia where hemoglobinopathies are prevalent. The Saudi Ministry of Health designed a protocol for premarital testing after the royal decree in December 2003. The protocol was implemented in a February 2004 order. The aim of this study was to determine the prevalence of beta-thalassemia trait among subjects coming for premarital screening in the Al-Hassa area. From February 2004 to November 2004, healthy subjects coming to six marriages consultation centers in the Al-Hassa area underwent routine mandatory tests. Subjects were considered to have beta-thalassemia trait if they had a mean corpuscular volume (MCV), 80 fL and/or a mean corpuscular hemoglobin (MCH) 3.2%. Venous blood was taken into ETDA tube and the complete blood count and red blood cell indices were measured by a Coulter automated cell counter on the same day of hemoglobin collection. Electrophoresis was done on cellulose acetate. All Saudi participants (n=8918), including 4218 (47.3%) males and 4700 (52.7%) females were screened. The prevalence of beta-thalassemia trait with high hemoglobin A2 and microcytic hypochromic anemia was 3.4% (307/8918). In countries with a high prelevance of hemoglobinopathies, a premarital screening program is helpful for identification and prevention of high-risk marriages. With a 3.4% prevalence of beta-thalassemia trait in premarital couples, future comprehensive programs are needed to know the actual prevalence of beta-thalassemia in Al-Hassa. (author)

144

Molecular characterization of beta-thalassemia in the Dohuk region of Iraq.  

Science.gov (United States)

beta-Thalassemia (thal) is an important health problem in the Dohuk region of northern Iraq because of its high carrier rate and the frequency of consanguineous marriages. Thus, the need to establish an effective preventative program is paramount. As part of this effort, we initiated this study to determine the molecular basis of this disorder in the region. For the latter purpose, either parent of 104 registered beta-thal major/intermedia patients had their full blood counts, hemoglobin (Hb) electrophoresis, Hb A2 and Hb F quantitation performed. Their DNA was extracted, amplified and reverse hybridized to specific oligonucleotide probes to detect 20 beta-thal mutations. The testing detected 12 beta-thalassemic mutations. The eight most frequent were: IVS-II-1 (G-->A), codon 44 (-C), codon 5 (-CT), IVS-I-1 (G-->A), codon 39 (C-->T), IVS-I-6 (T-->C), codons 8/9 (+G) and IVS-I-5 (G-->C). These mutations accounted for 81.7% of the thalassemic defects in the studied individuals. The less frequent mutations were: codon 8 (-AA), IVS-I-110 (G-->A), codon 30 (G-->C) and codon 22 (-7 bp), and the beta-thalassemic defects remained uncharacterized in 11.5% of cases. This is the first study of beta-thal mutations from Iraq, and shows a frequency of thalassemic defects different from those reported in surrounding countries. It provides a foundation for prenatal genetic testing that will be part of a thalassemia prevention program in the Dohuk region. PMID:16987803

Al-Allawi, Nasir A S; Jubrael, Jalaldet M S; Hughson, Michael

2006-01-01

145

Two missense mutations in the beta-globin gene can cause severe beta thalassemia. Hemoglobin Medicine Lake (beta 32[B14]leucine-->glutamine; 98 [FG5] valine-->methionine).  

Digital Repository Infrastructure Vision for European Research (DRIVER)

We studied the molecular basis of transfusion-dependent hemolytic anemia in an infant who rapidly developed the phenotype of beta thalassemia major. DNA sequence of one beta-globin gene of the proband revealed two mutations, one for the moderately unstable hemoglobin (Hb) Köln and another for a novel codon 32 cytosine-thymidine-guanine-->cytosine-adenine-guanine transversion encoding a leucine-->glutamine mutation. A hydrophilic glutamine residue at beta 32 has an uncharged polar side chain ...

Coleman, M. B.; Lu, Z. H.; Smith, C. M.; Adams, J. G.; Harrell, A.; Plonczynski, M.; Steinberg, M. H.

1995-01-01

146

Beta-thalassemia, 2D animationSite: DNA Interactive (www.dnai.org)  

Science.gov (United States)

The HBB gene encodes an important blood protein called beta globin. A person with beta-thalassemia carries a mutation in both copies of the HBB gene, completely halting production of the beta globin protein. Without beta globin, the important oxygen-carrying protein, hemoglobin, can not be made. Although oxygen can be carried by a less efficient form of hemoglobin, most of the affected red blood cells die.

2008-10-06

147

What causes beta-thalassemia?, 2D animationSite: DNA Interactive (www.dnai.org)  

Science.gov (United States)

The HBB gene encodes an important blood protein called beta globin. A person with beta-thalassemia carries a mutation in both copies of the HBB gene, completely halting production of the beta globin protein. Without beta globin, the important oxygen-carrying protein, hemoglobin, can not be made. Although oxygen can be carried by a less efficient form of hemoglobin, most of the affected red blood cells die.

2008-10-06

148

What is beta-thalassemia?, 2D animationSite: DNA Interactive (www.dnai.org)  

Science.gov (United States)

The HBB gene encodes an important blood protein called beta globin. A person with beta-thalassemia carries a mutation in both copies of the HBB gene, completely halting production of the beta globin protein. Without beta globin, the important oxygen-carrying protein, hemoglobin, can not be made. Although oxygen can be carried by a less efficient form of hemoglobin, most of the affected red blood cells die.

2008-10-06

149

Homozygous delta-beta Thalassemia in a Child: a Rare Cause of Elevated Fetal Hemoglobin  

Digital Repository Infrastructure Vision for European Research (DRIVER)

AbstractBackgroundDelta beta (??) thalassemia is an unusual variant of thalassemia with elevated level of fetal hemoglobin (HbF). Homozygous patients of this disorder, unlike ?-thalassemia, show mild anemia. Only few cases of ??-thalassemia have been reported from India in the available indexed English literature.Case presentationA four-year old male child was evaluated for recent-onset jaundice. Hematological investigations showed mild anemia with microcytic hypochromic red cells. A com...

Sk Md, Mittal; Md, Gupta R.; Md, Bhargava M.; Md, Verma S.

2013-01-01

150

In vivo reduction of erythrocyte oxidant stress in a murine model of beta-thalassemia  

Digital Repository Infrastructure Vision for European Research (DRIVER)

BACKGROUND AND OBJECTIVES: Oxidant damage is an important contributor to the premature destruction of erythrocytes and anemia in thalassemias. To assess the extent of oxidant damage of circulating erythrocytes and the effects of antioxidant therapy on erythrocyte characteristics and anemia, we used a mouse model of human beta-thalassemia intermedia (b1/b2 deletion). DESIGN AND METHODS: Several parameters indicative of oxidant damage were measured at baseline and following administration of th...

Turrini, Francesco Michelangelo; Ayi, Kodjo

2004-01-01

151

Beta-thalassemia- institution based analysis of ethnic and geographic distribution, effect of consanguinity and safety of chorionic villus sampling as a diagnostic, tool for pre-natal diagnosis in selected patients  

International Nuclear Information System (INIS)

To study the ethnic and geographic distribution of Beta-thalassemia amongst the patients included and to study the effect of consanguinity in promoting this disease. Also, to establish the safety of CVS when used as a pre-natal diagnostic tool in aiding the early diagnosis of Beta-thalassemia in selected patients. Study Design: Descriptive Study. Place and Duration of Study: PNS Shifa Karachi, from Jan 2008 to Dec 2008. Patients and Methods: A total of 223 women out of 240 that were referred from all over Sindh to PNS Shifa Hospital Karachi for susceptible gene mutations participated in the study. The standard procedure that was used in this study was trans-abdominal aspiration of chorionic villi through suction needle. The samples were then sent for further analysis to the Pathology Department at PNS Shifa Hospital Karachi. Results: In our study population Beta-thalassemia was most prevalent in Sindhi 107 (48%) followed by Punjabi 46 (21%), 27 (12%) Pathan, and 43 (19%) Balochi. Out of 223 women, 95 were of thalassemia trait, while 85 were of thalassemia major. Fifty five percent of thalassemia trait and 56% of thalassemia major fetus parents were first cousins. The rate of pregnancy loss after performing CVS was 2.0% with no complications reported. Conclusion: It is concluded that highest percentage of thalassemia is in first cousins and sindhi origin families are mostly affected. However CVS is a safe and effective tool for prenatal diagnosis and subsequent counselling in selected couples. (author)

152

New optical coherence tomography fundus findings in a case of beta-thalassemia  

Directory of Open Access Journals (Sweden)

Full Text Available MI Eleftheriadou,1 PG Theodossiadis,1 A Rouvas,1 D Alonistiotis,1 GP Theodossiadis212nd Department of Ophthalmology,”Attikon” University Hospital, University of Athens, 2Department of Ophthalmology, “Henry Dunant” Hospital, Athens, GreeceAbstract: Patients with beta-thalassemia may present with an acquired diffuse elastic tissue defect due to degeneration of elastic tissue along with vaso-occlusive findings in the retinal microvasculature. Here we report the case of a patient with granular-like accumulation presenting as black sunburst lesions detected by optical coherence tomography (OCT. A 38-year-old man with beta-thalassemia intermedia associated with angioid streaks complained of deterioration of vision in both eyes. Funduscopic examination revealed small, round, hyperpigmented lesions bilaterally. During the early and late phases of fluorescein angiography, granular hyperfluoresence was present, associated with pigment decompensation and mottled-like hypofluorescence. The main OCT finding was the presence of granuloid-like accumulations at the retinal pigment epithelium level. Granule penetration was also noticed at the photoreceptor layer, while isolated granuloid-like accumulations were found in the inner layers of the macula and choroid. In this case, the new OCT finding was the granular-like hyperpigmented accumulations in the macula located at the level of the retinal pigment epithelium. To the best of our knowledge, our OCT findings show for the first time granuloid-like accumulations representing black sunburst lesions.Keywords: beta-thalassemia, angioid streaks, optical coherence tomography, granuloid-like accumulation, retinal pigment epithelium

Eleftheriadou MI

2012-12-01

153

Evolution of a genetic disease in an ethnic isolate:. beta. -Thalassemia in the Jews of Kurdistan  

Energy Technology Data Exchange (ETDEWEB)

{beta}-Thalassemia is a hereditary disease caused by any of 90 different point mutations in the {beta}-globin gene. Specific populations generally carry a small number of mutations, the most common of which are those that are widely distributed regionally. The present study constitutes an extensive molecular characterization of this disease in a small, highly inbred ethnic group with a high incidence of {beta}-thalassemia-the Jews of Kurdistan. An unusual mutational diversity was observed. In 42 sibships 13 different mutations were identified, of which 3 are newly discovered. Four of the mutations are unique to Kurdish Jews and have not been discovered in any other population. A fifth was found outside Kurdish Jews only in an Iranian from Khuzistan, a region bordering Kurdistan. Two-thirds of the mutant chromosomes carry the mutations unique to Kurdish Jews. The authors traced the origin of the mutations to specific geographic regions within Kurdistan. This information, supported by haplotype analysis, suggests that thalassemia in central Kurdistan (northern Iraq) has evolved primarily from multiple mutational events. They conclude that several evolutionary mechanisms contributed to the evolution of {beta}-thalassemia in this small ethnic isolate.

Rund, D.; Cohen, T.; Filon, D.; Rachmilewitz, E.; Oppenheim, A. (Hadassah Univ. Hospital, Jerusalem (Israel)); Dowling, C.E.; Warren T.C.; Kazazian, H.H. Jr. (Johns Hopkins Univ. School of Medicine, Baltimore, MD (United States)); Barak, I. (Kaplan Hospital, Rehovot (Israel))

1991-01-01

154

Rare association between two genetic conditions: turner syndrome and beta thalassemia minor  

Directory of Open Access Journals (Sweden)

Full Text Available Rare disorders are defined as diseases, including those of genetic origin, which are life-threatening or chronically debilitating, which are of such low prevalence that special combined efforts are needed to address them. We present a case with a rare association between two genetic conditions: Turner phenotype and beta thalassemia minor. Turner syndrome is a chromosomal disorder that is characterized by the absence of all or part of a second sex chromosome in some or all cells. This condition occurs in 1 in 2,500 to 3,000 girls. The physical features include webbing of the neck, short stature, delayed growth of the skeleton, broad chest, cardivascular abnormalities and gonadal dysgenesis. Women with this disorder are usually infertile due to ovarian failure. The clinical diagnosis was confirmed by the cytogenetic and by FISH analysis, which revealed the presence of only one X chromosome. Treatment may include human growth hormone and estrogen replacement therapy. On the other hand, thalassemias are genetic conditions that result from imbalance in the normal coordinated synthesis of the globin subunits that make up the hemoglobin tetramer, leading to decreased and defective production of hemoglobin. Beta thalassemia syndromes are hereditary disorders characterized by a genetic deficiency in the synthesis of beta-globin chains. Beta thalassemia is inherited in an autosomal recessive manner. Thalassemia minor usually presents as an asymptomatic mild microcytic anemia, but our case also had splenomegaly and required splenectomy.

Dorina STOICANESCU

2009-11-01

155

Haematological Characterisation and Molecular Basis of Asian Indian Inversion Deletions Delta Beta Thalassemia: A Case Report  

Science.gov (United States)

The hereditary persistence of fetal hemoglobin (HPFH) and delta beta thalassemia are heterogeneous disorders characterised by increased levels of fetal hemoglobin and high level of this Hb continues in adulthood. The distinction between these two conditions is not always possible with routine hematologic analysis and molecular characterisation of the defect is required. We encountered such a rare case of ? ? thalassemia in a 10-year-old male child who presented with features of thalassemia intermedia. Hemoglobin analysis showed 100% HbF while molecular analysis revealed Asian Indian inversion-deletion G?A?(? ?) zero thalassemia. PMID:25386442

Gupta, Monika; Singh, Rekha; Kapoor, Rohit; Pandey, Hare Ram

2014-01-01

156

Effect of pregnancy on differentiation of minor Beta-Thalassemia from iron deficiency  

Directory of Open Access Journals (Sweden)

Full Text Available Differential diagnosis of Iron-deficiency anemia and Beta-Thalassemia, two common causes of anemia, affects the treatment in pregnant women. To help the diagnosis, we have tried to asses the pure effect of gestation on diagnostic criteria, eliminating iron and folate deficiency. In a prospective study, 46 thalassemic women were given Ferrous Sulphate tablets and Folate. Some indices, CBC and HbA2 were measured before and after treatment during pregnancy. The haemoglobin and HbA2 decreased and MCV increased, all with significant P value. We concluded that HbA2, independent of iron, will decrease during pregnancy and MCV will increase

Ghanei M

1997-07-01

157

Same. beta. -globin gene mutation is present on nine different. beta. -thalassemia chromosomes in a Sardinian population  

Energy Technology Data Exchange (ETDEWEB)

The predominant ..beta..-thalassemia in Sardinia is the ..beta../sup 0/ type in which no ..beta..-globin chains are synthesized in the homozygous state. The authors determined the ..beta..-thalassemia mutations in this population by the oligonucleotide-probe method and defined the chromosome haplotypes on which the mutation resides. The same ..beta../sup 39(CAG..-->..TAG)/ nonsense mutation was found on nine different chromosome haplotypes. Although this mutation may have arisen more than once, the multiple haplotypes could also be generated by crossing over and gene conversion events. These findings underscore the frequency of mutational events in the ..beta..-globin gene region.

Pirastu, M.; Galanello, R.; Doherty, M.A.; Tuveri, T.; Cao, A.; Kan, Y.W.

1987-05-01

158

Hemoglobin Mississippi (beta 44ser----cys). Studies of the thalassemic phenotype in a mixed heterozygote with beta +-thalassemia.  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Hemoglobin Mississippi (HbMS: beta 44ser----cys) has anomalous properties that include disulfide linkages with normal beta-, delta-, gamma-, and alpha-chains, and the formation of high molecular weight multimers. While heterozygotes for HbMS are clinically and hematologically normal and carriers of the beta +-thalassemia gene in our family had mild microcytic anemia, the proband with HbMS-beta +-thalassemia had a hemoglobin level of 7 g/dl, mean corpuscular volume (MCV) of 68 fl, reticulocyte...

Steinberg, M. H.; Adams, J. G.; Morrison, W. T.; Pullen, D. J.; Abney, R.; Ibrahim, A.; Rieder, R. F.

1987-01-01

159

Homozygous delta-beta Thalassemia in a Child: a Rare Cause of Elevated Fetal Hemoglobin  

Directory of Open Access Journals (Sweden)

Full Text Available AbstractBackgroundDelta beta (?? thalassemia is an unusual variant of thalassemia with elevated level of fetal hemoglobin (HbF. Homozygous patients of this disorder, unlike ?-thalassemia, show mild anemia. Only few cases of ??-thalassemia have been reported from India in the available indexed English literature.Case presentationA four-year old male child was evaluated for recent-onset jaundice. Hematological investigations showed mild anemia with microcytic hypochromic red cells. A comprehensive analysis of hemoglobin by high-performance liquid chromatography (HPLC showed complete absence of HbA and HbA2 with HbF constituting 100% of the hemoglobin. Hemoglobin analysis of both parents showed elevated level of HbF with normal HbA2. A final diagnosis of ??-thalassemia in the child with both parents being carriers was rendered. ConclusionDelta beta-thalassemia is an uncommon cause of markedly elevated fetal hemoglobin beyond fetal period. Clinical and haematological parameters should be evaluated to render an accurate diagnosis.

Mittal SK MD

2013-03-01

160

Beta-thalassemia, hyperlipoproteinemia(a), and metabolic syndrome: its low-cost holistic therapy.  

Science.gov (United States)

Metabolic syndrome (MS) is an emerging global health problem. Although studies highlighting its genetic, lipid, and cardiometabolic associations have been described in detail, the exact cause for these associations is not clear. The authors describe, in this study, the case of a patient who, along with his family members, had clinical evidence of MS. In addition, this patient also exhibited beta-thalassemia minor and hyperlipoproteinemia(a). Lipoprotein [Lp(a)] levels diminished significantly following therapy with bark-stem powder of Terminalia arjuna, an ancient remedy recommended for angina pectoris. The co-existence of these conditions, reflecting both a genetic link and a significant reduction in Lp(a) levels amounting to 24.71% following the administration of T. arjuna, prompted the authors to report on this case. PMID:17388772

Dwivedi, Shridhar; Kumar, Vivek

2007-03-01

 
 
 
 
161

Relative stability of alpha- and beta-globin messenger RNAs in homozygous beta+ thalassemia.  

Science.gov (United States)

The relative concentrations of alpha-, beta-, and gamma-globin mRNA sequences were measured in bone marrow nuclear and cytoplasmic RNA and in RNA from peripheral blood reticulocytes of three patients with homozygous beta+ thalassemia. Our results suggest that the quantitative deficiency in beta-globin mRNA may arise because of abnormal metabolism of molecules containing beta mRNA sequences. Complementary DNAs specific for each of the globins were synthesized. Variable quantities of RNA were incubated to equilibrium with 3H-labeled alpha- and 32P-labeled beta- or gamma-enriched cDNA. We found for each of the patients that the alpha/beta mRNA sequence ratio was more nearly normal in the nuclear RNA than in either cytoplasmic or reticulocyte RNA. Conversely, gamma mRNA sequences were very low in the nucleus with an increase in the relative concentration in both cytoplasm and reticulocyte RNA. The thermal stability of nucleic acid duplexes formed between beta cDNA and nuclear RNA from one patient with beta+ thalassemia was equivalent to that of duplexes formed with normal nuclear RNA. Approximately equal amounts of thalassemic alpha and beta mRNA were retained by oligo(dT)-cellulose, indicating that the 3' poly(A) segment was present on both. Our results indicate that beta-globin mRNA, although grossly normal in structure, fails to accumulate in beta+ thalassemic erythroid cells in amounts equivalent to the mRNA for alpha-globin. PMID:71735

Nienhuis, A W; Turner, P; Benz, E J

1977-01-01

162

Regional and ethnic distribution of beta thalassemia mutations and effect of consanguinity in patients referred for prenatal diagnosis  

International Nuclear Information System (INIS)

To determine the regional and ethnic distribution of beta thalassemia mutation and the effect of consanguinity in patients referred for prenatal diagnosis of beta b-thalassemia and to target the high risk population for screening. A total of 499 couples were referred to Gentec Lab., Lahore, from all over Pakistan for prenatal diagnosis of b-thalassemia. After counseling, chorionic villus sampling was done between 10-16 weeks of gestation. DNA analysis was done by Amplification Refractory Mutation System (ARMS) for type of mutation in the Armed Forces Institute of Pathology, Rawalpindi. Ethnicity, race and consanguineous relationship of parents was determined.b-thalassemia was prevalent in Punjabis (60.7%) followed by Saraikees (25.5%). Castewise it was most frequent in Rajputs followed by Jatts, Arain, Sheikhs and Pathans. 56.7% of the couples were first cousins and 19.8% were relatives. The commonest mutations were Frameshift 8-9 (Fr8-9) 33.5%, Intervening Sequence 1-5 (IVS 1-5) 17.2%, Fr4142 - 8%, IVS 1-1 - 5.2%, Deletion 619 (Del 619) 4.2% and Codon 5 (Cd 5) - 4.2%. In samples sent for analysis, 53.1% turned out to be carriers (trait), 25.3% were diseased (thalassemia major) and 21.6% were normal. P-value of all results was less than 0.001. In this series, the highest frequency was found in Punjabi Rajputs. The commonest mutation was Fr 8-9. Most parents were first cousins. Premarital thalassemia carrier testing can effectively reduce the disease. (author)vely reduce the disease. (author)

163

Utilization of denaturing gradient gel electrophoresis for diagnosis of {beta}-thalassemia and ascertainment of new mutations  

Energy Technology Data Exchange (ETDEWEB)

During the past two years we have tested 2,300 Southeast Asians for alpha- and beta-thaleassemia mutations. We found the incidence of hemoglobin E ({beta}{sup 26}) to be 47% among Laotians and 38% among Cambodians. The incidence of beta thalassemia trait is 9% for Laotians and 6% for Cambodians. Thus, the risk for hemoglobin E/{beta}{sup 26} thalassemia, a transfusion-dependent disorder, is increased in these two population groups. Denaturing gradient gel electrophoresis (DGGE) has proven to be useful in testing for beta-thalassemia carriers and identifying new mutations in the beta globin gene. DNA was extracted from venous blood obtained from patients with elevated Hgb A2 (>4%). Five DNA fragments, encompassing the beta globin gene cluster, were amplified by PCR and analyzed, along with known beta gene mutations as controls, by DGGE using different denaturing gradient concentrations. Different mutations at the same nucleotide position can be distinguished by migration pattern on the DGGE (e.g., in IVS-I-1, G{r_arrow}A and T). Compound heterozygotes for {beta}-thalassemia can be detected on the same gel (e.g., HbE/mutation codon 17). New mutations are identified by their migration pattern compared with controls and determined by subsequent sequencing. We have identified three new mutations: codon 82 CAA{r_arrow}AAA in one Cambodian patient; IVS-II-667, T{r_arrow}C and IVS-II-672, A{r_arrow}C in two Laotian patients. When the parent`s genotypes are known, prenatal diagnosis can be obtained within 24 hours. Thus, PCR/DGGE combination is a rapid and reliable diagnostic approach to clinically significant {beta}-thalassemia. The most important steps are carefully designed primers and predetermined gradient concentrations for DGGE.

Ngo, K.Y.; Liu, D.; Lee, J. [Univ. of California, San Diego (United States)] [and others

1994-09-01

164

Characterization of beta-thalassemia mutations in patients from the state of Rio Grande do Norte, Brazil  

Directory of Open Access Journals (Sweden)

Full Text Available 35 unrelated individuals were studied for characterization as either heterozygous or homozygous for beta-thalassemia. Molecular analysis was done by PCR/RFLP to detect the mutations most commonly associated with beta-thalassemia (?0IVS-I-1, ?+IVS-I-6, and ?039. In the patients who showed none of these mutations, the beta-globin genes were sequenced. Of the 31 heterozygous patients, 13 (41.9% had the ?+IVS-I-6 mutation, 15 (48.4% the ?0IVS-I-1 mutation, 2 (6.5% the ?+IVS-I-110 mutation and 1 (3.2% the ?+IVS-I-5 mutation. IVS-I-6 was detected in the four homozygotes. The mutation in codon 39, often found in previous studies in Brazil, was not detected in the present case. This is the first study aiming at identifying mutations that determine beta-thalassemia in the state of Rio Grande do Norte.

Zama Messala Luna da Silveira

2011-01-01

165

Characterization of beta-thalassemia mutations in patients from the state of Rio Grande do Norte, Brazil  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: English Abstract in english 35 unrelated individuals were studied for characterization as either heterozygous or homozygous for beta-thalassemia. Molecular analysis was done by PCR/RFLP to detect the mutations most commonly associated with beta-thalassemia (?0IVS-I-1, ?+IVS-I-6, and ?039). In the patients who showed none of th [...] ese mutations, the beta-globin genes were sequenced. Of the 31 heterozygous patients, 13 (41.9%) had the ?+IVS-I-6 mutation, 15 (48.4%) the ?0IVS-I-1 mutation, 2 (6.5%) the ?+IVS-I-110 mutation and 1 (3.2%) the ?+IVS-I-5 mutation. IVS-I-6 was detected in the four homozygotes. The mutation in codon 39, often found in previous studies in Brazil, was not detected in the present case. This is the first study aiming at identifying mutations that determine beta-thalassemia in the state of Rio Grande do Norte.

Zama Messala Luna da, Silveira; Maria das Vitórias, Barbosa; Thales Allyrio Araújo de Medeiros, Fernandes; Elza Miyuki, Kimura; Fernando Ferreira, Costa; Maria de Fátima, Sonati; Ivanise Marina Moretti, Rebecchi; Tereza Maria Dantas de, Medeiros.

166

Coexisting iron deficiency anemia and Beta thalassemia trait: effect of iron therapy on red cell parameters and hemoglobin subtypes.  

Science.gov (United States)

Background. Coexistence of iron deficiency anemia (IDA) and beta thalassemia trait (BTT) has been the topic of few studies. However, no study from our country was found evaluating the effect of iron therapy in patients with concomitant IDA and BTT. Methods. Over a period of two years, 30 patients with concomitant IDA and BTT were included. All the patients had a complete blood count, serum iron studies, and thalassemia screening using BIORADTM hemoglobin testing system. The patients received oral iron therapy in appropriate dosages for a period of twenty weeks, after which all the investigations were repeated. Appropriate statistical methods were applied for comparison of pre- and posttherapy data. Results. All except two patients were adults with a marked female preponderance. Oral iron therapy led to statistically significant improvement in hemoglobin, red cell indices (P HbA2 levels (P < 0.001). There was a significant reduction in the total iron binding capacity levels. Conclusion. The present study shows the frequent occurrence of iron deficiency anemia in patients with beta thalassemia trait, which can potentially confound the diagnosis of the latter. Hence, iron deficiency should be identified and rectified in patients with suspicion of beta thalassemia trait. PMID:25006473

Verma, Sarika; Gupta, Ruchika; Kudesia, Madhur; Mathur, Alka; Krishan, Gopal; Singh, Sompal

2014-01-01

167

Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan.  

Science.gov (United States)

beta-Thalassemia is a hereditary disease caused by any of 90 different point mutations in the beta-globin gene. Specific populations generally carry a small number of mutations, the most common of which are those that are widely distributed regionally. The present study constitutes an extensive molecular characterization of this disease in a small, highly inbred ethnic group with a high incidence of beta-thalassemia--the Jews of Kurdistan. An unusual mutational diversity was observed. In 42 sibships 13 different mutations were identified, of which 3 are newly discovered: a C----A transversion at -88 to the cap site, a frameshift in codon 36/37, and an A----G transition in the polyadenylylation signal. Four of the mutations are unique to Kurdish Jews and have not been discovered in any other population. A fifth was found outside Kurdish Jews only in an Iranian from Khuzistan, a region bordering Kurdistan. Two-thirds of the mutant chromosomes carry the mutations unique to Kurdish Jews. We traced the origin of the mutations to specific geographic regions within Kurdistan. This information, supported by haplotype analysis, suggests that thalassemia in central Kurdistan (northern Iraq) has evolved primarily from multiple mutational events. In Turkish Kurdistan, the primary mechanism is genetic admixture with the local population. In Iranian Kurdistan, a founder effect appears to be partly responsible. We conclude that several evolutionary mechanisms contributed to the evolution of beta-thalassemia in this small ethnic isolate. PMID:1986379

Rund, D; Cohen, T; Filon, D; Dowling, C E; Warren, T C; Barak, I; Rachmilewitz, E; Kazazian, H H; Oppenheim, A

1991-01-01

168

A multi-center study in order to further define the molecular basis of beta-thalassemia in Thailand, Pakistan, Sri Lanka, Mauritius, Syria, and India, and to develop a simple molecular diagnostic strategy by amplification refractory mutation system-polymerase chain reaction.  

Science.gov (United States)

The spectrum of the beta-thalassemia mutations of Thailand, Pakistan, India, Sri Lanka, Mauritius and Syria has been further characterized by a multi-center study of 1,235 transfusion-dependent patients, and the mutations discovered used to assess the fidelity of a simple diagnostic strategy. A total of 44 beta-thalassemia mutations were identified either by allele-specific oligonucleotide hybridization, amplification with allele-specific primers, or DNA sequencing of amplified product. The results confirm and extend earlier findings for Thailand, Pakistan, India, Mauritius and Syria. This is the first detailed report of the spectrum of mutations for Sri Lanka. Two novel mutations were identified, codon 55 (-A) and IVS-I-129 (A-->C), both found in Sri Lankan patients. Two beta-thalassemia mutations were found to coexist in one beta-globin gene: Sri Lankan patients homozygous for the beta0 codon 16 (-C) frameshift were also homozygous for the beta+ codon 10 (C-->A) mutation. Studies of Sri Lankan, Pakistani, and Indian carriers suggest the codon 10 (C-->A) mutation is just a rare polymorphism on an ancestral allele, on which the beta0 codon 16 (-C) mutation has arisen. Each country was found to have only a few common mutations accounting for 70% or more of the beta-thalassemia alleles. A panel of primers to diagnose the majority of the mutations by the amplification refractory mutation system was developed, enabling a simple molecular diagnostic strategy to be introduced for each country participating in the multi-center study. PMID:11791873

Old, J M; Khan, S N; Verma, I; Fucharoen, S; Kleanthous, M; Ioannou, P; Kotea, N; Fisher, C; Riazuddin, S; Saxena, R; Winichagoon, P; Kyriacou, K; Al-Quobaili, F; Khan, B

2001-11-01

169

Beta-globin Gene Mutations in Turkish Children with Beta-Thalassemia: Results from a Single Center Study  

Science.gov (United States)

Introduction The beta thalassemias are common genetic disorders in Turkey and in this retrospective study our aim was to evaluate ?-globin chain mutations and the phenotypic severity of ?-thalassemia patients followed-up in our hospital, a tertiary center which serves patients from all regions of Turkey. Materials and Methods 106 pediatric patients were analysed for ?-globin gene mutations by using DNA analysis. Patients were classified as having ?-thalassemia major or ?-thalassemia intermedia based on age at diagnosis, transfusion frequency and lowest hemoglobin concentration in between transfusions. Results There were 106 patients (52.8% female and 47.2% male) with a mean age of 11.2±5 years (1.6 – 22.3 years). Eighty-four (79.2%) patients had ?-thalassemia major, whereas the remaining 22 patients (20.8%) were identified as having ?-thalassemia intermedia. Overall, 18 different mutations were detected on 212 alleles. The most frequently encountered mutation was IVS I.110 (G>A) (35.3%), followed by Codon 8 del-AA (10.4%), IVS II.1 (G>A) (8%), IVS I.1 (G>A) (7.5%), Codon 39 (C>T) (7.1%) and Codon 5 (?CT) (6.6%), which made up 79.4% of observed mutations. According to present results, IVS I.110 (G>AA) was the most frequent mutation observed in this study, as in other results from Turkey. Evaluation of ?-thalassemia mutations in 106 patients with 212 alleles, revealed the presence of homozygous mutation in 85 patients (80.2%) and compound heterozygous mutation in 21 patients (19.8%). The mutations detected in patients with homozygous mutation were IVS I.110 (G>A) (38.8%), Codon 8 del –AA (11.8%), IVS II.1 (G>A) (8.2%) and IVS I.1 (G>A) (8.2%). Observed mutations in the compound heterozygotes were Codon 39 (C>T)/Codon 41–42 (?CTTT) (14.3%), IVS I.110 (G>A)/Codon 39(C>T) (14.3%), IVS I.110 (G>A)/Codon 44(?C) (14.3%), and IVS II.745 (C>G)/5?UTR + 22 (G>A) (9.5%). Conclusion Our hospital is a tertiary referral center that provides care to patients from all over the country, and thus the distribution of mutations observed in the current study is significant in term of representing that of the country as a whole. PMID:24106605

Fettah, Ali; Bayram, Cengiz; Yarali, Nese; Isik, Pamir; Kara, Abdurrahman; Culha, Vildan; Tunc, Bahattin

2013-01-01

170

Study on Efficacy of Hepatitis B Immunization in Vaccinated beta-thalassemia Children in Tehran  

Directory of Open Access Journals (Sweden)

Full Text Available Objective:In thalassemic children, HBV infection is common, thus immunization against HBV will reduce and prevent the rate of infection. The aim of this study was to evaluate the efficacy of HBV immunization and the prevalence of HBV infection in beta-thalassemic children in Tehran.Methods:To assess the efficacy of immunization and determine the immune response of children with beta-thalassemia, sera of 99 children who had received three doses (10/20 ?g of recombinant HBV vaccine in months 0, 1, 6, were selected and tested for HBsAg, HBsAb and anti-HBc by ELISA method. Also, these sera were tested for HBV DNA using nested-PCR method.Findings:In 99 beta-thalassemic children, 89 (89.9 % were anti-HBs positive (responders and 10 (10.1% anti-HBs negative (non-responders.Three cases(3.03% were anti-HBc positive and 1(1.01% was HBsAg positive. HBV DNA was not detected in any of them.Conclusion:Our results have revealed that hepatitis B vaccine is highly immunogenic for thalassemic children and particularly well tolerated.

Zohreh Sharifi

2010-06-01

171

Hematological indices for differential diagnosis of Beta thalassemia trait and iron deficiency anemia.  

Science.gov (United States)

Background. The two most frequent types of microcytic anemia are beta thalassemia trait ( ? -TT) and iron deficiency anemia (IDA). We retrospectively evaluated the reliability of various indices for differential diagnosis of microcytosis and ? -TT in the same patient groups. Methods. A total of 290 carefully selected children aged 1.1-16 years were evaluated. We calculated 12 discrimination indices in all patients with hemoglobin (Hb) values of 8.7-11.4?g/dL. None of the subjects had a combined case of IDA and ? -TT. All children with IDA received oral iron for 16 weeks, and HbA2 screening was performed after iron therapy. The patient groups were evaluated according to red blood cell (RBC) count; red blood distribution width index; the Mentzer, Shine and Lal, England and Fraser, Srivastava and Bevington, Green and King, Ricerca, Sirdah, and Ehsani indices; mean density of hemoglobin/liter of blood; and mean cell density of hemoglobin. Results. The Mentzer index was the most reliable index, as it had the highest sensitivity (98.7%), specificity (82.3%), and Youden's index (81%) for detecting ? -TT; this was followed by the Ehsani index (94.8%, 73.5%, and 68.3%, resp.) and RBC count (94.8%, 70.5%, and 65.3%). Conclusion. The Mentzer index provided the highest reliabilities for differentiating ? -TT from IDA. PMID:24818016

Vehapoglu, Aysel; Ozgurhan, Gamze; Demir, Ay?egul Dogan; Uzuner, Selcuk; Nursoy, Mustafa Atilla; Turkmen, Serdar; Kacan, Arzu

2014-01-01

172

Hematological Indices for Differential Diagnosis of Beta Thalassemia Trait and Iron Deficiency Anemia  

Science.gov (United States)

Background. The two most frequent types of microcytic anemia are beta thalassemia trait (?-TT) and iron deficiency anemia (IDA). We retrospectively evaluated the reliability of various indices for differential diagnosis of microcytosis and ?-TT in the same patient groups. Methods. A total of 290 carefully selected children aged 1.1–16 years were evaluated. We calculated 12 discrimination indices in all patients with hemoglobin (Hb) values of 8.7–11.4?g/dL. None of the subjects had a combined case of IDA and ?-TT. All children with IDA received oral iron for 16 weeks, and HbA2 screening was performed after iron therapy. The patient groups were evaluated according to red blood cell (RBC) count; red blood distribution width index; the Mentzer, Shine and Lal, England and Fraser, Srivastava and Bevington, Green and King, Ricerca, Sirdah, and Ehsani indices; mean density of hemoglobin/liter of blood; and mean cell density of hemoglobin. Results. The Mentzer index was the most reliable index, as it had the highest sensitivity (98.7%), specificity (82.3%), and Youden's index (81%) for detecting ?-TT; this was followed by the Ehsani index (94.8%, 73.5%, and 68.3%, resp.) and RBC count (94.8%, 70.5%, and 65.3%). Conclusion. The Mentzer index provided the highest reliabilities for differentiating ?-TT from IDA. PMID:24818016

Vehapoglu, Aysel; Ozgurhan, Gamze; Demir, Aysegul Dogan; Uzuner, Selcuk; Nursoy, Mustafa Atilla; Turkmen, Serdar; Kacan, Arzu

2014-01-01

173

Frequency of Cholelithiasis in Patients With Beta-Thalassemia Intermedia With and Without Hydroxyurea  

Science.gov (United States)

Background: Recent studies regarding the effect of hydroxyurea (HU) in thalassemia have revealed favorable effects on the reduction of ineffective erythropoiesis. Objectives: The aim of the current study was to evaluate whether or not HU can have an effect on the gallstone formation rate in patients with beta-thalassemia intermedia (BTI). Patients and Methods: In this case control cross-sectional study, from a total of 250 transfusion-independent BTI patients, 51 patients who were taking HU, participated in the study. Patients were registered in the Thalassemia clinic of Shiraz University of Medical Sciences, Shiraz, which is a referral center located in southern Iran, during 2011-2012. Mean dose of HU consumption in the case group was 10 ± 2.5 mg/kg/day (range of 8-15 mg/kg/day), with a mean duration of consumption of 7.5 ± 3.8 years (range 1-14 years). In addition, 41 age- and sex-matched BTI patients who did not use HU were randomly selected as a control group. All patients underwent abdominal ultrasound by a radiologist for evaluation of gallstones. Results: Mean age of the participants was 21.4 ± 6.5 years (10-40 years). There was no statistically significant difference regarding the frequency of cholelithiasis between the two groups of patients (P = 0.822). Our study showed significantly lower hemoglobin levels and a higher percentage of nucleated red blood cells in the HU group compared with the control group (P = 0.001 and P = 0.005, respectively). Conclusions: It seems that taking HU for long periods can reduce hemolysis and bone marrow suppression, and that decreases the rate of cholelithiasis. We believe that if these patients had not been treated with HU, we would probably have observed a significantly higher frequency of cholelithiasis, due to more hemolysis compared with patients not taking HU. Further studies with larger sample sizes are suggested.

Khavari, Maryam; Hamidi, Azin; Haghpanah, Sezaneh; Bagheri, Mohammad Hadi; Bardestani, Marzieh; Hantooshzadeh, Razieh; Karimi, Mehran

2014-01-01

174

Frequency of Beta-globin gene mutations in beta-thalassemia patients from east of Mazandaran  

Directory of Open Access Journals (Sweden)

Full Text Available (Received 6 Aug, 2008; Accepted 3 Dec, 2008 Abstract Background and purpose: Beta-thalassemia is the most common inherited disorder in the world, especially in Iran. According to Iranian thalassemia society registry, 18616 thalassemia patients now living in Iran, which Mazandaran and Fars provinces have the most patients. Previous reports have shown that the frequency of b-thalassemia carriers is more than 10% in Mazandaran province. Although b-thalassemia is very heterogenous in the molecular level, but in each population, 5 to 10 mutations are more common. In this research common mutation in eastern area of Mazadaran province was investigated. Materials and methods: 5 to 10 ml peripheral blood samples were collected from volunteer patients who were referred to Boali Sina Hospital in Sari. DNA was extracted from blood, then 20 different mutations were screened and detected using two different methods, ARMS-PCR and Reverse-Dot Blot in Thalassemia Research Center in Sari and Amir Kola Thalassemia Center. Results: From 240 chromosomes investigated in 120 b-thalassemia patients in total, 96.25% mutations were identified. 13 different mutations were identified from 231 chromosomes. Among different mutations investigated, IVSII-1G>A was detected as the most common with frequency of 68/3%, which was homozygous in 64 individuals (53/3% and compound heterozygous with other mutations in 34 individuals (28/3% respectively. Mutations C8(-AA, codon22(G>A/ FSC 22/23/24(-7bp, codon 30(G>A, and IVSII-1G>A were identified in 83% of chromosomes which were studied (200 chromosomes from 240. Conclusion: Mutation IVSII-1G>A is the most common mutation in northern provinces (Gilan, mazandaran, Golestan in recent study. Also, comparison of these results with the similar finding from other provinces showed that the distributions of mutations in the northern area are different with northwest, south or southeast of the country.

Mohammad Bagher Hashemi Soteh

2008-01-01

175

Serological Evaluation of Major Beta Thalassemia Patients below15 for Cytomegalovirus Infection in Iran  

Directory of Open Access Journals (Sweden)

Full Text Available Thalassemia is one of the most prevalent human genetic diseases. Thalassemia genes are prevalent all over the world especially in countries on Thalassemia belt which Iran is among them. With due attention to the prevalence of this genetic disease in Iran and patients` vital needs for regularly blood transfusion, it is necessary to study Transfusion-transmitted cytomegalovirus infection in this patients. Current study has been carried out on 309 Thalassemia patients below 15 who were receiving blood from therapeutic centers repeatedly. ELISA method was used to determine CMV-IgM seroposivity for cytomegalovirus, Also 225 healthy people below 15 were selected as control group and finally all data were analyzed by SPSS statistical software. The results of this study showed that 12.9 % of under study Thalassemia patients were seropositive for CMV-IgM antibody and 95.1% were negative. Regional separation of patients showed that the patients resided in Tehran are more infected to this virus than patients of other towns. According to this study prevalence of CMV-IgM antibody significantly higher than normal population, therefore immunity care of these patients and use CMV seronegative blood units and also hematic parents (parents with the same blood and CMV seronegative are important.

2007-01-01

176

Metabolic and endocrinologic complications in beta-thalassemia major: a multicenter study in Tehran  

Directory of Open Access Journals (Sweden)

Full Text Available Abstract Background The combination of transfusion and chelation therapy has dramatically extended the life expectancy of thalassemic patients. The main objective of this study is to determine the prevalence of prominent thalassemia complications. Methods Two hundred twenty patients entered the study. Physicians collected demographic and anthropometric data and the history of therapies as well as menstrual histories. Patients have been examined to determine their pubertal status. Serum levels of 25(OH D, calcium, phosphate, iPTH were measured. Thyroid function was assessed by T3, T4 and TSH. Zinc and copper in serum were determined by flame atomic absorption spectrophotometry. Bone mineral density (BMD measurements at lumbar and femoral regions have been done using dual x-ray absorptiometry. The dietary calcium, zinc and copper intakes were estimated by food-frequency questionnaires. Results Short stature was seen in 39.3% of our patients. Hypogonadism was seen in 22.9% of boys and 12.2% of girls. Hypoparathyroidism and primary hypothyroidism was present in 7.6% and 7.7% of the patients. About 13 % of patients had more than one endocrine complication with mean serum ferritin of 1678 ± 955 micrograms/lit. Prevalence of lumbar osteoporosis and osteopenia were 50.7% and 39.4%. Femoral osteoporosis and osteopenia were present in 10.8% and 36.9% of the patients. Lumbar BMD abnormalities were associated with duration of chelation therapy. Low serum zinc and copper was observed in 79.6% and 68% of the study population respectively. Serum zinc showed significant association with lumbar but not femoral BMD. In 37.2% of patients serum levels of 25(OH D below 23 nmol/l were detected. Conclusion High prevalence of complications among our thalassemics signifies the importance of more detailed studies along with therapeutic interventions.

Hashemi Reza

2003-08-01

177

The survival analysis of beta thalassemia major patients in South East of Iran.  

Directory of Open Access Journals (Sweden)

Using regular transfusion, paying attention to screening of transfused blood, increasing the families' knowledge on the disease to prevent the bearing of thalassemia fetus, are recommended; finally, the detection and treating of the AD, are of great importance to extend the lifetime of the patients.

Masoud Roudbari

2008-07-01

178

Peripheral Blood stem cell transplantation in children with Beta-thalassemia major  

International Nuclear Information System (INIS)

Objective: To share the preliminary data on stem cell transplantation in Pakistan. Results: Engraftment was achieved in all patients except one who required a second dose of bone marrow graft on day +21. Median time to achieve absolute neutrophil count of > 0.5 x 10/sup 9/ /l was 9.0 days (range 8 - 31 days) and platelet count of > 20 x 10/sup 9/ /l was 14 days (12 - 35 days). Acute GVHD was seen in 3 patients, one patient had grade IV gut GVHD; another patient had grade III gut GVHD while third patient had grade II skin GVHD. Median hospital stay was 29 days. Six patients were well and transfusion independent 3 to 36 months post transplant. One episode of primary graft failure required a second dose of bone marrow harvest. Another episode of graft rejection received two doses of donor lymphocytes infusion. There were 4 deaths due to grade IV gut GVHD because of uncontrolled systemic Candida infection and one due to hepatic veno-occlusive (VOD) disease. Conclusion: Allogeneic peripheral blood stem cell transplantation can be safely and economically carried out in Pakistan. Although there had been 4 deaths during 36 months follow-up, with increasing understanding and experience the outcome is expected to improve. (author)

179

An intracranial extramedullary hematopoiesis in a 34-year-old man with beta thalassemia: a case report  

Directory of Open Access Journals (Sweden)

Full Text Available Abstract Introduction Extramedullary hematopoiesis occurs in approximately 15% of cases of thalassemia. Intracranial deposits of extramedullary hematopoiesis are an extremely rare compensatory process in intermediate and severe thalassemia. Case presentation We present an unusual case of an intracranial extramedullary hematopoiesis with a choroid plexus origin in a 34-year-old Caucasian man with beta thalassemia intermedia, who presented with the complaints of chronic headache and rapid progressive visual loss. Conclusion An intracranial extramedullary hematopoiesis, although extremely rare, should be considered as a potential ancillary diagnosis in any thalassemic patient and therefore appropriate studies should be performed to investigate the probable intracranial ectopic marrow before any surgical intervention.

Tabesh Homayoun

2011-12-01

180

Takayasu's arteritis presenting with temporary loss of vision in a 23-year-old woman with beta thalassemia trait: a case report  

Directory of Open Access Journals (Sweden)

Full Text Available Abstract Introduction The simultaneous presence of Takayasu's arteritis and beta thalassemia trait is a rare combination. To the best of our knowledge, this is the first case report on Takayasu's arteritis and beta thalassemia presenting together. Case presentation This is a case report of a 23-year-old Asian woman of Pakistani descent who presented with a headache, blurred vision and dizziness. Conclusion The correct diagnosis of our patient was based on clinical suspicion, appropriate imaging studies, and deliberation of the differential diagnosis. The management of our patient depended on the correct diagnosis of both the diseases.

Shabbir Fahad A

2011-09-01

 
 
 
 
181

Soluble transferrin receptor and immature reticulocytes are not useful for distinguishing iron-deficiency anemia from heterozygous beta-thalassemia  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: English Abstract in portuguese A deficiência de ferro e a beta-talassemia heterozigótica são importantes causas de microcitose e hipocromia. São propostos dois parâmetros laboratoriais para auxiliar na diferenciação entre essas anemias. O número de reticulócitos altamente imaturos e níveis do receptor solúvel da transferrina fora [...] m determinados em pacientes com anemia ferropriva (n = 49) e com beta-talassemia heterozigótica (n = 43). Não houve diferença significativa entre os valores de reticulócitos altamente imaturos e níveis de receptor solúvel da transferrina nos dois grupos, mas foi observada uma correlação entre reticulócitos altamente imaturos e níveis de receptor solúvel da transferrina no grupo com anemia ferropriva, provavelmente devido à um estímulo para a síntese do receptor em resposta à deprivação de ferro nos eritrócitos. Abstract in english Iron deficiency and heterozygous beta-thalassemia are important causes of hypochromic-microcytic anemia. Two laboratory parameters are suggested for the differentiation of such anemia. High-fluorescence reticulocyte counts and soluble transferrin receptor levels were determined in iron-deficiency an [...] emia patients (n = 49) and heterozygous beta-thalassemia patients (n = 43). There was no significant difference in high-fluorescence reticulocyte and soluble transferrin receptor values between the two groups, but a correlation was observed between high-fluorescence reticulocytes and soluble transferrin receptors in iron-deficiency anemia, probably due to increased receptor synthesis as a response to decreased iron content in erythrocytes.

Gisélia Aparecida Freire Maia de, Lima; Helena Zerlotti Wolf, Grotto.

182

Spectrum of Beta Globin Gene Mutations in Egyptian Children with ?-Thalassemia  

Science.gov (United States)

Background The molecular defects resulting in a ?-thalassemia phenotype, in the Egyptian population, show a clear heterogenic mutations pattern. PCR-based techniques, including direct DNA sequencing are effective on the molecular detection and characterization of these mutations. The molecular characterization of ?-thalassemia is necessary for carrier screening, genetic counseling, and to offer prenatal diagnosis. The aim of the work was to evaluate the different ?-globin gene mutations in two hundred ?-thalassemic Egyptian children. Subjects and Methods This study was carried out on two hundred ?-thalassemic Egyptian children covering most Egyptian Governorates including 158 (79%) children with thalassemia major (TM) and 42 (21%) children with thalassemia intermedia(TI). All patients were subjected to meticulous history taking, clinical examination, complete blood count, hemoglobin electrophoresis, serum ferritin and direct fluorescent DNA sequencing of the ?-globin gene to detect the frequency of different mutations. Results The most common mutations among patients were IVS I-110(G>A) 48%, IVS I-6(T>C) 40%, IVS I-1(G>A) 24%, IVS I-5(G>C)10%, IVS II-848 (C>A) 9%, IVS II-745(C>G) 8%, IVS II-1(G>A) 7%, codon “Cd”39(C> T) 4%, ?87(C>G) 3% and the rare mutations were: Cd37 (G>A), Cd8 (?AA), Cd29(?G), Cd5 (?CT), Cd6(?A), Cd8/9(+G), Cd 106/107(+G), Cd27(C>T), IVS II-16(G> C), Cd 28 (?C), Cap+1(A>C), ?88(C>A), all of these rare mutations were present in 1%. There was a considerable variation in phenotypic severity among patients resulting from the interaction of different ?? and ?+mutations. Furthermore, no genotype-phenotype association was found both among the cases with thalassemia major and the cases with thalassemia intermedia. Conclusion Direct DNA sequencing provides insights for the frequency of different mutations in patients with ?-thalassemia including rare and/or unknown ones. The most common mutations in Egyptian children with beta thalassemia were IVS I-110(G>A) 48%, IVS I-6(T>C) 40%, IVS I-1(G>A)24%, IVS I-5(G>C)10%, IVS II-848 (C>A) 9%, IVS II-745(C>G) 8%, IVS II-1(G>A) 7%.

El-Shanshory, MR; Hagag, AA; Shebl, SS; Badria, IM; Abd Elhameed, AH; Abd El-Bar, ES; Al-Tonbary, Y; Mansour, A; Hassab, H; Hamdy, M; Alfy, M; Sherief, L; Sharaf, E

2014-01-01

183

[Unusual aspect of pernicious anemia during association of beta-thalassemia: a new case report and literature review].  

Science.gov (United States)

Pernicious anemia appears classically by macrocytosis. We report a case of a late discovered Biermer disease, on a 42-year-old young black woman. The reason was an unusual aspect of this disease in a context of betathalassemia. The patient presented chronic anemia which evolved during about ten year. Biology showed a normocytosis and signs of hemolysis according to beta-thalassemia. This was confirmed by an electrophoresis showing 9.1 % of fraction F some haemoglobin. Since this date, the patient was treated by folic acid alone with periodic transfusions of red blood cell. She presented eight years after the beginning of her disease, neurological deterioration. Diagnosis of pernicious anemia was finally established up on histological gastritis, low level of the blood rate of vitamin B12, macrocytosis, and presence of intrinsic anti-factor and parietal anti-cells antibodies. PMID:22766185

Diop, Madoky Magatte; Toure, P S; Leye, M Y; Leye, A; El Fadjri, S; Diop, M; Ka, M M; Diop, Oulimata D; Fall, S; Ndiaye, F S

2012-01-01

184

Hemoglobina C em homozigose e interação com talassemia beta Homozygous hemoglobin C and its interaction with beta thalassemia  

Directory of Open Access Journals (Sweden)

Full Text Available A hemoglobina C (Hb C é originária do oeste da África e é detectada por migração lenta na eletroforese alcalina em acetato de celulose. Consiste na mutação do gene da globina beta no códon 6 (GAG-AAG, resultando na substituição do sexto aminoácido da cadeia beta da hemoglobina humana, o ácido glutâmico, pelo aminoácido lisina. A cromatografia de alto desempenho (HPLC separa completamente as frações C e A2, permitindo caracterizar a presença da interação com talassemia beta. Esta entidade (Hb CC, em homozigoze é considerada benigna em relação à doença falciforme, já que a falcização não faz parte de sua fisiopatologia. A raridade do diagnóstico C homozigoto e C talassemia beta nos pacientes portadores de hemoglobinopatias nos alertou para a necessidade de se conhecer melhor e estudar aspectos clínicos e hematológicos dos casos dessa mutação em homozigose e na interação com a talassemia beta no ambulatório de anemias do Centro Regional de Hematologia e Hemoterapia de Ribeirão Preto, SP, Brasil.Hemoglobin C (Hb C originated in the west of Africa and is detected by alkaline electrophoresis by slow migration in cellulose acetate. It consists of a mutation of the beta globin gene in codon 6 (GAG-AAG, resulting in a substitution of glutamic acid, the sixth amino acid of the beta string of the human hemoglobin, for lysine. High performance chromatography (HPLC separates the C and A2 fractions completely, allowing the characterization of the presence of interactions with thalassemia beta. This entity (Hb CC is considered benign in respect to sickle cell disease, as sickle cells are not part of its physiopathology. The rarity of the diagnosis of homozygous C and beta thalassemia in patients with hemoglobinopathies showed the necessity of studying clinical and hematologic aspects of the cases of this mutation in homozygosis carriers and the interaction with beta thalassemia in the anemias clinic of the Regional Blood Center in Ribeirao Preto, SP, Brazil.

Ivan L. Angulo

2009-01-01

185

Perfil de beta talassemia heterozigota obtido a partir de análise data mining em banco de dados / The profile of beta thalassemia obtained by data mining analysis in a database  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: Portuguese Abstract in portuguese [...] Abstract in english Variations in the phenotypic expression of heterozygous beta thalassemia reflect the formation of different populations. To better understand the profile of heterozygous beta-thalassemia of the Brazilian population, we aimed at establishing parameters to direct the diagnosis of carriers and calculat [...] e the frequency from information stored in an electronic database. Using a Data Mining tool, we evaluated information on 10,960 blood samples deposited in a relational database. Over the years, improved diagnostic technology has facilitated the elucidation of suspected beta thalassemia heterozygote cases with an average frequency of 3.5% of referred cases. We also found that the Brazilian beta thalassemia trait has classic increases of Hb A2 and Hb F (60%), mainly caused by mutations in beta zero thalassemia, especially in the southeast of the country.

Ana L. B., Domingos; Lucas A., Granzotto; Edis, Belini Junior; Thiago Y. K., Oliveira; Ana C. B., Domingos; Claudia R., Bonini-Domingos.

186

Perfil de beta talassemia heterozigota obtido a partir de análise data mining em banco de dados / The profile of beta thalassemia obtained by data mining analysis in a database  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: Portuguese Abstract in portuguese [...] Abstract in english Variations in the phenotypic expression of heterozygous beta thalassemia reflect the formation of different populations. To better understand the profile of heterozygous beta-thalassemia of the Brazilian population, we aimed at establishing parameters to direct the diagnosis of carriers and calculat [...] e the frequency from information stored in an electronic database. Using a Data Mining tool, we evaluated information on 10,960 blood samples deposited in a relational database. Over the years, improved diagnostic technology has facilitated the elucidation of suspected beta thalassemia heterozygote cases with an average frequency of 3.5% of referred cases. We also found that the Brazilian beta thalassemia trait has classic increases of Hb A2 and Hb F (60%), mainly caused by mutations in beta zero thalassemia, especially in the southeast of the country.

Ana L. B., Domingos; Lucas A., Granzotto; Edis, Belini Junior; Thiago Y. K., Oliveira; Ana C. B., Domingos; Claudia R., Bonini-Domingos.

2010-02-01

187

Perfil de beta talassemia heterozigota obtido a partir de análise data mining em banco de dados The profile of beta thalassemia obtained by data mining analysis in a database  

Directory of Open Access Journals (Sweden)

Full Text Available Variations in the phenotypic expression of heterozygous beta thalassemia reflect the formation of different populations. To better understand the profile of heterozygous beta-thalassemia of the Brazilian population, we aimed at establishing parameters to direct the diagnosis of carriers and calculate the frequency from information stored in an electronic database. Using a Data Mining tool, we evaluated information on 10,960 blood samples deposited in a relational database. Over the years, improved diagnostic technology has facilitated the elucidation of suspected beta thalassemia heterozygote cases with an average frequency of 3.5% of referred cases. We also found that the Brazilian beta thalassemia trait has classic increases of Hb A2 and Hb F (60%, mainly caused by mutations in beta zero thalassemia, especially in the southeast of the country.

Ana L. B. Domingos

2010-02-01

188

Comparison of red cell distribution width and a red cell discriminant function incorporating volume dispersion for distinguishing iron deficiency from beta thalassemia trait in patients with microcytosis  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: English Abstract in portuguese A função discriminante baseada na distribuição do tamanho dos eritrócitos (RDW) e outra função discriminante incorporando o RDW (MCV² x RDW/Hgb x 100) foram determinadas em um grupo de 30 pacientes com anemia ferropriva, 30 pacientes com beta talassemia menor e 30 indivíduos normais. Os valores médi [...] os do RDW e do (MCV² x RDW/ Hgb x 100) foram significativamente maiores em pacientes com anemia ferropriva quando comparados aos obtidos em pacientes com beta talassemia menor (p Abstract in english The red cell distribution width (RDW), and another red cell discriminant function incorporating RDW (MCV² x RDW/Hgb x 100) were determined in a group of 30 patients with iron deficiency anemia, 30 patients with beta thalassemia trait, and 30 normal subjects. Both RDW and (MCV² x RDW/Hgb x 100) mean [...] values were significantly higher in iron deficiency anemia than in beta thalassemia trait (p

Carmen Silvia Passos, Lima; Aparecida Ribeiro de Carvalho, Reis; Helena Zerlotti Wolf, Grotto; Sara Teresinha Ollala, Saad; Fernando Ferreira, Costa.

189

Associations of red blood corpuscle mean volume and hematocrit with severity of beta-globin gene mutations in beta-thalassemia carriers  

Directory of Open Access Journals (Sweden)

Full Text Available Background and Aim: Thalassemia, a heterogeneous disease, is one of the most common single-gene diseases worldwide. The aim of this study was to find associations between hematological indices and severity of beta-globin gene mutations in beta-thalassemia carriers. Materials and Methods: In this cross-sectional study, 30 beta-goblin gene mutations (b+ and b? in 1206 unrelated beta-thalassemia carriers were investigated. In addition, their hematological indices, including CBC and electrophoresis results, were determined.  The association between genetic findings and hematological parameters (mean corpuscular volume (MCV and mean hematocrit corpuscular hematocrit (MCH were determined using the SPSS software, the statistical test being the t-test.  Results: The results indicated that b+-thalassemia carriers had higher MCV and MCH means than b?-thalassemia carriers. These findings would certainly have practical implications in public health. Conclusion: The results show a significant correlation between two hematological indices and certain types of mutations in beta-thalassemia carriers.

M A Ehsani

2011-04-01

190

beta-thalassemia intermedia in a Brazilian patient with - 101(C > T) and codon 39 (C > T) mutations  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: English Abstract in portuguese CONTEXTO: Neste trabalho foi estudada a alteração molecular em um paciente brasileiro de 72 anos com talassemia beta homozigótica com evolução clínica intermediária, esplenectomizado e necessitando de transfusões ocasionais. Os dados hematológicos mostravam anemia microcítica e hipocrômica (Hemoglob [...] ina = 7,9 g/dl, Volume Corpuscular Médio = 76fl, Hemoblobina Corpuscular Média = 26 pg) e a eletroforese de hemoglobina revelou Hemoglobina Fetal = 14,2%, Hemoglobina A2 = 6,2% e Hemoglobina A = 79,4%. OBJETIVO: Identificar as duas mutações envolvendo um paciente com sintomas de talassemia beta intermediária. TIPO DE ESTUDO: Investigação molecular das possíveis mutações responsáveis pelo quadro clínico descrito. LOCAL: Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas, Campinas, São Paulo, Brasil. PROCEDIMENTOS: Após a extração de DNA do sangue deste paciente, foi feita reação de polimerase em cadeia (polymerase chain reaction, PCR) utilizando cinco pares de primers que amplificaram éxons e a região promotora do gene da globina beta. O produto da amplificação foi seqüenciado e os cromatogramas, analisados por programas de computador (Phred, Phrap e Consed). RESULTADOS: Foram encontradas duas mutações responsáveis pela doença;-101 (C > T) e códon 39 (C > T). CONCLUSÕES: Este caso representa a primeira descrição da mutação 101 (C > T) na população brasileira e está associado a evolução clínica benigna. Abstract in english CONTEXT: We verified molecular alterations in a 72-year-old Brazilian male patient with a clinical course of homozygous beta-thalassemia intermedia, who had undergone splenectomy and was surviving without regular blood transfusions. The blood cell count revealed microcytic and hypochromic anemia (he [...] moglobin = 6.5 g/dl, mean cell volume = 74 fl, mean cell hemoglobin = 24 pg) and hemoglobin electrophoresis showed fetal hemoglobin = 1.3%, hemoglobin A2 = 6.78% and hemoglobin A = 79.4%. OBJECTIVE: To identify mutations in a patient with the symptoms of beta-thalassemia intermedia. DESIGN: Molecular inquiry into the mutations possibly responsible for the clinical picture described. SETTING: The structural molecular biology and genetic engineering center of the Universidade Estadual de Campinas, Campinas, Brazil. PROCEDURES: DNA extraction was performed on the patient's blood samples. The polymerase chain reaction (PCR) was done using five specific primers that amplified exons and the promoter region of the beta globin gene. The samples were sequenced and then analyzed via computer programs. RESULTS: Two mutations that cause the disease were found: -101 (C > T) and codon 39 (C > T). CONCLUSIONS: This case represents the first description of 101 (C > T) mutation in a Brazilian population and it is associated with a benign clinical course.

Sylvia Morais de, Sousa; Letícia, Khater; Luís Antônio, Peroni; Karine, Miranda; Marcelo Jun, Murai; Dulcinéia Martins, Albuquerque; Paulo, Arruda; Sara Terezinha Ollala, Saad; Fernando Ferreira, Costa.

191

Hemoglobina C em homozigose e interação com talassemia beta / Homozygous hemoglobin C and its interaction with beta thalassemia  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: Portuguese Abstract in portuguese A hemoglobina C (Hb C) é originária do oeste da África e é detectada por migração lenta na eletroforese alcalina em acetato de celulose. Consiste na mutação do gene da globina beta no códon 6 (GAG-AAG), resultando na substituição do sexto aminoácido da cadeia beta da hemoglobina humana, o ácido glut [...] âmico, pelo aminoácido lisina. A cromatografia de alto desempenho (HPLC) separa completamente as frações C e A2, permitindo caracterizar a presença da interação com talassemia beta. Esta entidade (Hb CC, em homozigoze) é considerada benigna em relação à doença falciforme, já que a falcização não faz parte de sua fisiopatologia. A raridade do diagnóstico C homozigoto e C talassemia beta nos pacientes portadores de hemoglobinopatias nos alertou para a necessidade de se conhecer melhor e estudar aspectos clínicos e hematológicos dos casos dessa mutação em homozigose e na interação com a talassemia beta no ambulatório de anemias do Centro Regional de Hematologia e Hemoterapia de Ribeirão Preto, SP, Brasil. Abstract in english Hemoglobin C (Hb C) originated in the west of Africa and is detected by alkaline electrophoresis by slow migration in cellulose acetate. It consists of a mutation of the beta globin gene in codon 6 (GAG-AAG), resulting in a substitution of glutamic acid, the sixth amino acid of the beta string of th [...] e human hemoglobin, for lysine. High performance chromatography (HPLC) separates the C and A2 fractions completely, allowing the characterization of the presence of interactions with thalassemia beta. This entity (Hb CC) is considered benign in respect to sickle cell disease, as sickle cells are not part of its physiopathology. The rarity of the diagnosis of homozygous C and beta thalassemia in patients with hemoglobinopathies showed the necessity of studying clinical and hematologic aspects of the cases of this mutation in homozygosis carriers and the interaction with beta thalassemia in the anemias clinic of the Regional Blood Center in Ribeirao Preto, SP, Brazil.

Ivan L., Angulo; Sandra B. R., Picado.

192

Extraosseous radiotracer uptake on bone scan in beta-thalassemia: report of one case; Fixation extraosseuse du radiotraceur lors de la realisation d'une scintigraphie du squelette chez un patient atteint de beta-thalassemie: a propos d'un cas  

Energy Technology Data Exchange (ETDEWEB)

Red blood cell transfusion, main therapeutic modality of beta-thalassemia, leads to iron overload which may perturb several metabolic ways. The aim of this paper is to illustrate the uptake abnormalities observed on bone scan of thalassaemic patients and to discuss mechanisms of extraosseous accumulation of the radiopharmaceutical in this pathology. We report a 16-year-old child suffering from beta-thalassemia major undergoing transfusion therapy. A bone scan was indicated to look for osseous infection. This study revealed a little skeletal uptake and abnormal liver, splenic and renal accumulation. A repeat bone scan, performed three weeks later showed a better skeletal uptake which enabled the discovery of focal abnormalities and made the diagnostic easier. The effect of iron overload on radiopharmaceuticals uptake in bone scan is known since 1975. Dissociation of {sup 99m}Tc from the carrier ligand due to the presence of iron excess seems the most plausible hypothesis. Free {sup 99m}Tc can be bound to other tissular substrates which can explain extraosseous uptake. The normally available pool for bone is reduced and then the skeletal uptake decreased. This report limits considerably the sensitivity of the bone scan. A well-led iron chelation and eventually the use of diuretic drug may guarantee a better quality of bone scan images. (authors)

Guezguez, M.; Nouira, M.; Sfar, R.; Chatti, K.; Ben Fradj, M.; Ben Ali, K.; Ajmi, S.; Essabbah, H. [CHU Sahloul, Service de Medecine Nucleaire, Sousse (Tunisia); Zrour, S. [EPS F. Bourguiba, Service de Rhumatologie, Monastir (Tunisia)

2009-10-15

193

Factor V G1691A (Leiden is a major etiological factor in Egyptian Budd-Chiari syndrome patients  

Directory of Open Access Journals (Sweden)

Full Text Available Objective: Budd-Chiari syndrome is a multifactorial disease in which several prothrombotic disorders may predispose patients to the development of thrombosis at this uncommon location (hepatic veins. The aim of this study was to determine the prevalence and characteristics of inherited thrombophilia in Egyptian Budd-Chiari syndrome patients.Materials and Methods: The study included 47 Budd-Chiari syndrome patients (20 children and 27 adults. Genotyping of Factor V G1691A (Leiden, prothrombin G20210A (PT, and methylenetetrahydrofolate reductase C677T were performed using real-time PCR and fluorescence melting curve detection analysis.Results: Factor V Leiden was observed in 29 patients (61.7%. It is the only factor that caused Budd-Chiari syndrome in 18 of the patients and in 5 of the patients with inferior vena cava involvement. Myeloproliferative disease was noted in 12 (25.5% patients, antiphospholipid syndrome in 5 (10.6%, and Behcet’s disease in 3 (6.4%. Interestingly, 3 of the children with Budd-Chiari syndrome had lipid storage disease.Conclusion: Factor V Leiden was a major etiological factor in Egyptian Budd-Chiari syndrome patients, which may have been related to the high frequency of this mutation in the study region. Factor V Leiden was also a strong thrombophilic factor and the leading cause of inferior vena cava thrombosis in these patients. Lipid storage disease should be included as a risk factor for Budd-Chiari syndrome.

Tawhida Y. Abdel Ghaffar

2011-12-01

194

A New Index for Discrimination Between Iron Deficiency Anemia and Beta-Thalassemia Minor: Results in 284 Patients  

Directory of Open Access Journals (Sweden)

Full Text Available The present study reports the results in 284 patients of applying a recently developed index, MCV - (10xRBC, for discrimination between beta-thalassemia trait (?-TT and Iron Deficiency Anemia (IDA, the two most common causes of microcytic hypochromic anemias. A total of 284 carefully selected patients (130 patients with IDA and 154 with ?-TT were studied. Sensitivity, specificity and Youden’s index were compared between the proposed index and four other indices, namely England-Fraser, Mentzer, Srivastava and RBC count. The new index correctly identified 263 (92.96% patients, standing inferior only to Mentzer which correctly diagnosed 269 (94.71% patients. The best discrimination index according to Youden’s criteria was Mentzer (Youden’s index = 90.1 followed by the new index (Youden’s index = 85.5. There are remarkable inconsistencies among the results obtained in different studies. Larger studies are needed to establish the optimal discrimination index as well as to confirm the results obtained in the present study. Nevertheless, the epidemiological indices of the proposed discrimination index and the simplicity of its calculation make it acceptable for use in Iran.

M.A. Ehsani

2009-01-01

195

Association of iron overload based quantitative T2* MRI technique and carotid intima-media thickness in patients with beta-thalassemia: A cross-sectional study  

Directory of Open Access Journals (Sweden)

Full Text Available Abstract Background Body iron status has been implicated in atherosclerotic cardiovascular disease. The main hypothesis is that high iron status is associated with increased risk of atherosclerosis. We investigated the potential role of iron as an additional risk factor promoting atherosclerosis among beta-thalassemic patients. Methods In this cross-sectional study, the liver iron load was assessed by quantitative T2* MRI technique and intima-media thickness (IMT of the common carotid artery by high-resolution ultrasound among 119 patients (62 male, 57 female with beta-thalassemia (major and intermediate whose age ranged from 10 to 50 years with a mean of 25.6 years. The patients were divided into three groups according to the severity of iron loading, obtained by T2*MRI technique: group I (normal, group II (mild and group III (moderate and severe iron load. For elimination of the effect of age on carotid IMT values, the patients also were divided into four age groups (10-19 y, 20-29 y, 30-39 y and 40-50 y. Mean carotid IMT based on the severity of iron loading were compared at different age groups, using one way ANOVA analysis for assessing the effect of iron loading on carotid IMT. Pearson's coefficient of correlation were used to assess the degree of correlation between studied variables (liver T2*, IMT, age. Results There were significant differences in mean carotid IMT based on the severity of iron loading at different age groups, with P = 0.003 at 20-29 y, P = 0.006 at 30-39 y and p = 0.037 at 40-50 y. Age (p = 0.001 and liver T2*(p = 0.003 had significant correlation with mean carotid IMT independently. At the age group of 10-19 years, there were not significant differences in mean carotid IMT based on the liver iron loading (p = 0.661. No significant differences also are seen in mean carotid IMT between male and female (p = 0.41. Conclusions This study identified a relationship between body iron status and carotid IMT. This relationship support to the hypothesis of a link between body iron load and atherosclerosis.

Jafarisepehr Amirhosein

2010-12-01

196

Assessment of the energy requirements and selected options facing major consumers within the Egyptian industrial and agricultural sectors. Final report  

Energy Technology Data Exchange (ETDEWEB)

The objectives of the energy assessment study of Egypt are to develop an understanding of the current status of the principal energy users in Egypt's industrial and agricultural sectors; to estimate the energy demand and efficiency for each selected subsector within these major sectors; to identify opportunities for fuel type changes, technology switches, or production pattern changes which might increase the efficiency with which Egypt's energy is used both now and in the future: and based on options identified, to forecast energy efficiencies for selected Egyptian subsectors for the years 1985 and 2000. Study results are presented for the iron and steel, aluminium, fertilizer, chemical, petrochemical, cement, and textile industries and automotive manufacturers. Study results for drainage, irrigation, and mechanization procedures in the agricultural sector and food processing sector are also presented. (MCW)

1978-05-31

197

beta-thalassaemia major hos børn og unge i Danmark  

DEFF Research Database (Denmark)

INTRODUCTION: Beta-thalassemia major occurs with increasing frequency among Danish children as a result of immigration. The aim of the study was to estimate the occurrence of beta-thalassemia major in Denmark, analyse the treatment and organ functions, and identify areas for an improved treatment strategy. MATERIAL AND METHODS: During 1998-99 all Danish pediatric departments were contacted for identification of children aged 0-18 years with beta-thalassemia major. Blood transfusions and chelation therapy were registered, and for Eastern Denmark clinical, endocrine, cardiac, and serologic parameters were performed. RESULTS: Twenty-six children had beta-thalassemia major. Out of these, 20 received blood transfusions, and 17 patients were chelated. Eight patients were not chelated owing to previous bone marrow transplantation, treatment with hydroxyurea or ferritin < 2000 micrograms/l and young age. One patient had died. The body height was between 1.5 and -5.4 SDS (median -1.7) and the sitting height was -0.6 to -5.6 SDS (median -2.3). The bone age was delayed 1-5 years (median -2.5) in six out of ten examined patients, and puberty delayed in four out of five. A dilated left ventricle was documented in one out of eight patients examined. All patients were HIV and hepatitis C negative. For 75% of the children, the parents were related. DISCUSSION: Children and adolescents with beta-thalassemia major in Denmark experience major heterogenicity with regard to treatment and late effects. An earlier and more effective iron chelation therapy together with improved patient support may reduce growth disturbances and endocrine and cardiac late effects. Udgivelsesdato: 2002-Dec-2

Jung, Anne; Main, Katharina Maria

2002-01-01

198

Genética molecular de beta talasémicos heterocigotas: Interrelación con parámetros hematológicos Molecular genetics of the heterozygous beta-thalassemia: Interrelation with hematological parameters  

Directory of Open Access Journals (Sweden)

Full Text Available En Argentina no hay datos publicados sobre la interrelación entre el fenotipo de la mutación responsable de b-talasemia (b+ ó b0 y los parámetros hematológicos. En el presente trabajo se estudió las 6 mutaciones más frecuentes en la zona del Mediterráneo en 99 portadores de beta talasemia no relacionados de Rosario y zona de influencia. Los parámetros hematimétricos y la morfología eritrocitaria de sangre periférica de los portadores de beta talasemia no permitieron sospechar una determinada mutación. Se encontró diferencias levemente significativas (pNo data have been published in Argentina about the interrelation existing between the phenotype of the mutation responsible for b-thalassemia (b+ or bO and the hematological parameters. In the present paper, 6 of the most frequent mutations occurred in the Mediterranean zone in 99 non-related carriers of beta-thalassemia from Rosario and the influence zone, were studied. The hematimetric parameters and the erythrocytic morphology of peripheral blood of the carriers of beta-thalassemia did not allow to suspect of a determined mutation. Slightly significant differences (p < 0.10 were found in the average values of HCM for the different mutations considered. For the genotype b + I-6, it was marginally higher than for the genotype b + II-745. There were no significant differences among the other 4 genotypes

Irma Margarita Bragós

2005-04-01

199

Genética molecular de beta talasémicos heterocigotas: Interrelación con parámetros hematológicos / Molecular genetics of the heterozygous beta-thalassemia: Interrelation with hematological parameters  

Scientific Electronic Library Online (English)

Full Text Available SciELO Cuba | Language: Spanish Abstract in spanish En Argentina no hay datos publicados sobre la interrelación entre el fenotipo de la mutación responsable de b-talasemia (b+ ó b0) y los parámetros hematológicos. En el presente trabajo se estudió las 6 mutaciones más frecuentes en la zona del Mediterráneo en 99 portadores de beta talasemia no relaci [...] onados de Rosario y zona de influencia. Los parámetros hematimétricos y la morfología eritrocitaria de sangre periférica de los portadores de beta talasemia no permitieron sospechar una determinada mutación. Se encontró diferencias levemente significativas (p Abstract in english No data have been published in Argentina about the interrelation existing between the phenotype of the mutation responsible for b-thalassemia (b+ or bO) and the hematological parameters. In the present paper, 6 of the most frequent mutations occurred in the Mediterranean zone in 99 non-related carri [...] ers of beta-thalassemia from Rosario and the influence zone, were studied. The hematimetric parameters and the erythrocytic morphology of peripheral blood of the carriers of beta-thalassemia did not allow to suspect of a determined mutation. Slightly significant differences (p

Irma Margarita, Bragós; Nélida Inés, Noguera; Mariana Paula, Raviola; Ángela Cristina, Milani.

200

Insulin-like growth factor-1 levels in children with Beta-thalassemia minor  

Directory of Open Access Journals (Sweden)

Full Text Available Objective: Growth retardation in children with b-thalassemia major is multifactorial. Some etiologies described for this condition are hemochromatosis, disturbed growth hormone (GH / insulin growth factor-1 (IGF-1 axis, undernutrition and hypermetabolism. It has also been proven that growth retardation is present in b-thalassemia major children despite regular transfusion and chelation. Our aim was to evaluate the level of IGF-1 in b-thalassemia minor subjects and compare it with that in healthy children. Material and Methods: Fifty children aged 6 months to 15 years with b-thalassemia minor (32 males, 18 females and 50 age- and sex-matched normal healthy children were selected. Medical history was taken and complete physical examination was done in each case; IGF-1 level was checked in all cases. This study was done in Shiraz, southern Iran, during 2005.Results: IGF-1 levels were significantly lower in b-thalassemia minor children than normal children (P = 0.015. This result demonstrates that some etiologies of growth failure in b-thalassemia major other than those described to date can exist, which may be shared with b-thalassemia minor in feature or may be transformed by genes that are either expressed or not.Conclusion: We conclude that in addition to that observed in b-thalassemia major, IGF-1 level is also decreased in b-thalassemia minor, and these two may have similar etiologies.

Mehran Karimi

2008-09-01

 
 
 
 
201

Beta-globin gene mutations in children with beta-thalassemia major from ?anl?urfa province, Turkey  

Directory of Open Access Journals (Sweden)

Full Text Available Objective: The prevalence of ?-thalassemia in ?anl?urfa province, Turkey is reported to be 2.6%-3.7%, whereas nation-wide the frequency of ?-thalassemia is 2%. This study aimed to identify the most frequent ?-thalassemia mutations in ?anl?urfa province. Materials and Methods: In total, 22 mutations were investigated in 115 pediatric patients with ?-thalassemia using a commercially available reverse dot blot platform.Results: The study included 60 male and 55 female patients with a mean age of 7.3±4.6 years (range: 1-17 years. In total, 76% of the patients had consanguineous parents. In all, 16 different mutations were observed in the 115 patients. IVS-1-110 (G-A (29.1%, IVS-1-1 (G-A (13.9%, codon 39 (C>T (10.4%, and codon 8 (-AA (9.1% accounted for 62.5% of all the ?-thalassemia mutations, and 6% of the patients had 2 different thalassemia mutations. According to the present results, IVS-1-110 (G>A was the most frequent mutation observed in the patients from ?anl?urfa province, as in other geographical regions of Turkey. In addition, the following 34 compound heterozygote mutant alleles were observed; IVS-1-1 (G>A/IVS 2.848 (n=4, codon 39 (C>T/codon 8 (-AA (n=2, codon 6 (-A/IVS 1.5 (G>C (n=2, IVS-1-110 (G>A/IVS-1-1 (G>A (n=2, IVS-1-110 (G>A/codon 8 (-AA (n=1, IVS-1-110 (G>A/codon 39 (C>T (n=1, IVS-1-110 (G>A/IVS-1-6 (T>C (n=1, IVS-1-110 (G>A/IVS-1-5 (G>C (n=1, IVS-1-110 (G>A]/codon 8/9 (+G (n=1, IVS-1-1 (G>A/codon 39 (C>T (n=1, and codon 8 (-AA/IVS-1-5 (G>C (n=1. The following ?-globin gene promoter mutations were not observed; -101 (C>T, -87(C>T, -30 (T>A, codon 15 (TTG>TGA, codon 27 (G>T Knossos, and IVS-1-116 (G>C. In all, 5 of the 115 patients (4.3% had an unidentified mutation.Conclusion: The present results illustrate the heterogeneity of ?-thalassemia mutations in ?anl?urfa Province. The present findings may be of value for genetic counseling, and premarital and prenatal diagnosis in ?anl?urfa province.

Ali Ayçiçek

2011-12-01

202

Iron status and oxidative stress in beta-thalassemia patients in Jakarta.  

Science.gov (United States)

A study on thalassemia intermedia and major patients in Jakarta was initiated to obtain a comprehensive picture of metabolic dysregulation, iron overload, oxidative stress, and cell damage. Data are presented from a group of 14 transfusion-dependent patients in an age range of 11-25 years (T) and another group of 9 frequently transfused (for at least 15 years) patients aged 17-30 years (L). A third group comprised 6 patients (aged 7 to 14 years) who had not yet obtained transfusions (N). The 21 controls (C) were voluntary students without diagnosis or clinical signs of thalassemia up to 30 years of age. The study was approved by the Ethical Clearance Board of the Medical Faculty and all blood samples from controls and patients were obtained on fully informed consent. Levels of antioxidants (vitamins A, C, E and beta-carotene) and reactive thiols are considerably decreased in transfused patients, whereas signs of iron overload and cell damage are increased (serum iron, ferritin, transferrin saturation, SGOT, SGPT, gamma-GT, bilirubin). Results can be summarized that non-transfused thalassemia intermedia patients exert slight signs of oxidative stress, and increased hemoglobin degradation but no significant indication of tissue or cell damage. This picture differs considerably from transfusion-dependent thalassemia major patients: highly significant decrease in antioxidants and thiols and tremendous iron overload and cell damage. The picture is even worsened in long-term transfused patients. Iron chelation after transfusion is not sufficient in Indonesia, because it is normally (with few exceptions) applied only once together with transfusion. Hence, one major reason of the bad condition of transfusion-dependent thalassemia patients in Indonesia appears to be frequent transfusions (on the average one per month) and insufficient chelation of one treatment per month together with transfusion. PMID:14757977

Laksmitawati, D R; Handayani, S; Udyaningsih-Freisleben, S K; Kurniati, V; Adhiyanto, C; Hidayat, J; Kusnandar, S; Dillon, H S D; Munthe, B G; Wirawan, R; Soegianto, R R; Ramelan, W; Freisleben, H J

2003-01-01

203

Coincidence of Niemann-Pick Disease and Beta-Thalassemia; a Case Report  

Directory of Open Access Journals (Sweden)

Full Text Available Background: Niemann-Pick disease and ?-thalassemia are distinct conditions with specific clinical and morphological manifestations. ?-thalassemia is the most common inherited blood disorder in Iran whereas Niemann-Pick disease, a lysosomal storage disorder, is rarely found in this country.Case Presentation: This 5-month old girl, a known case of ?-thalassemia major was hospitalized for failure to thrive and hepathosplenomegaly. Because of unusual splenomegaly and liver enzymes disturbance that was not compatible with the first diagnosis, further evaluation revealed cherry red spot and high lipid profile suggestive of lysosomal storage disease. Foamy cells in the bone marrow and low activity of the specific enzyme led to the diagnosis of Niemann-Pick disease.Conclusion: This unique case illustrates the importance of looking for a second pathological condition in a patient whose clinical profile does not support the first diagnosis in its entirety.

Mina Izadyar

2010-12-01

204

Coincidence of Niemann-Pick Disease and beta-Thalassemia; a Case Report  

Directory of Open Access Journals (Sweden)

Full Text Available Background:Niemann-Pick disease and ?-thalassemia are distinct conditions with specific clinical and morphological manifestations. ?-thalassemia is the most common inherited blood disorder in Iran whereas Niemann-Pick disease, a lysosomal storage disorder, is rarely found in this country. Case Presentation:This 5-month old girl, a known case of ?-thalassemia major was hospitalized for failure to thrive and hepathosplenomegaly. Because of unusual splenomegaly and liver enzymes disturbance that was not compatible with the first diagnosis, further evaluation revealed cherry red spot and high lipid profile suggestive of lysosomal storage disease. Foamy cells in the bone marrow and low activity of the specific enzyme led to the diagnosis of Niemann-Pick disease.Conclusion:This unique case illustrates the importance of looking for a second pathological condition in a patient whose clinical profile does not support the first diagnosis in its entirety.

Fatemeh Farahmand

2010-12-01

205

The molecular basis of beta-thalassemia intermedia in southern China: genotypic heterogeneity and phenotypic diversity  

Directory of Open Access Journals (Sweden)

Full Text Available Abstract Background The clinical syndrome of thalassemia intermedia (TI results from the ?-globin genotypes in combination with factors to produce fetal haemoglobin (HbF and/or co-inheritance of ?-thalassemia. However, very little is currently known of the molecular basis of Chinese TI patients. Methods We systematically analyzed and characterized ?-globin genotypes, ?-thalassemia determinants, and known primary genetic modifiers linked to the production of HbF and the aggravation of ?/? imbalance in 117 Chinese TI patients. Genotype-phenotype correlations were analyzed based on retrospective clinical observations. Results A total of 117 TI patients were divided into two major groups, namely heterozygous ?-thalassemia (n = 20 in which 14 were characterized as having a mild TI with the Hb levels of 68-95 g/L except for five co-inherited ???anti-3.7 triplication and one carried a dominant mutation; and ?-thalassemia homozygotes or compound heterozygotes for ?-thalassemia and other ?-globin defects in which the ?+-thalassemia mutation was the most common (49/97, hemoglobin E (HbE variants was second (27/97, and deletional hereditary persistence of fetal hemoglobin (HPFH or ??-thalassemia was third (11/97. Two novel mutations, Term CD+32(A?C and Cap+39(C?T, have been detected. Conclusions Chinese TI patients showed considerable heterogeneity, both phenotypically and genotypically. The clinical outcomes of our TI patients were mostly explained by the genotypes linked to the ?- and ?-globin gene cluster. However, for a group of 14 patients (13 ?0/?N and 1 ?+/?N with known heterozygous mutations of ?-thalassemia and three with homozygous ?-thalassemia (?0/?0, the existence of other causative genetic determinants is remaining to be molecularly defined.

Sun Manna

2010-02-01

206

A stopped flow system with hydrodynamic injection for red blood cells osmotic fragility test: possibility for automatic screening of beta-thalassemia trait.  

Science.gov (United States)

Simple instrumentation and procedure with stopped flow system coupled to hydrodynamic injection and spectrophotometric detection were developed for automatic osmotic fragility test (OFT). OFT is a test for abnormal red blood cells based on the kinetics of their rupturing in a hypotonic saline solution. A portion of red cells was merged on-line with a hypotonic saline solution. They were mixed while flowing into the detector and were stopped for a short period for continuously monitoring the change of turbidity based on a transmission signal. In this work, a possible application of the system for screening of beta-thalassemia trait is demonstrated. Descriptions of instrumentation development and parameter optimization are presented. The system offers advantages over the conventional batch-wise OFT in terms of automation, precision, analysis time and sample volume. PMID:19531894

Khonyoung, Supada; Kradtap Hartwell, Supaporn; Jakmunee, Jaroon; Lapanantnoppakhun, Somchai; Sanguansermsri, Torpong; Grudpan, Kate

2009-06-01

207

Phenotypic expression and origin of the rare beta-thalassemia splice site mutation HBB:c.315 + 1G>T.  

Science.gov (United States)

We present the hematological characteristics of five patients from Surinam and the bordering French Guyana, who are carriers of the rare beta-thalassemia (beta-thal) mutation HBB:c.315+1G>T. Analysis of the phenotype/genotype relationship shows that this allele is a beta(0)-thal variant and illustrates the modulating effect of the alpha-globin gene status on the beta-thal phenotype. The ethnic origin of the five probands, belonging to the so-called Bush Negroes Maroons of Surinam and French Guyana, strongly suggests that this beta-thal mutation has a West African origin and spread in this ethnic group because of a founder effect and/or genetic drift. PMID:20524821

Broquere, Cédrick; Brudey, Karine; Harteveld, Cornelis L; Saint-Martin, Christian; Elion, Jacques; Giordano, Piero C; Romana, Marc

2010-06-01

208

Genotyping of Kell, Duffy, Kidd and RHD in patients with beta Thalassemia / Genotipagem dos sistemas Kell, Duffy, Kidd e RHD em pacientes com beta Talassemia  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: English Abstract in portuguese A determinação dos fenótipos Rh, Kell, Duffy e Kidd, associada ao ABO é utilizada para prevenir a aloimunização a antígenos eritrocitários e participam também no processo de identificação de anticorpos nos pacientes com beta talassemia. Todavia, a fenotipagem desses pacientes é trabalhosa e de difíc [...] il interpretação. Nesta situação, deve ser avaliada uma alternativa ao teste de hemaglutinação para determinar o padrão antigênico dos pacientes. Utilizamos para tal fim o método PCR-RFLP. Foram preparados DNAs de 50 pacientes com beta talassemia que haviam sido anteriormente fenotipados pela hamglutinação e testados para Kell, Kidd, Duffy/GATA mutação por PCR-RFLP. RHD/não-D foi analisado pelo tamanho do produto, do PCR associado à seqüência do gene RHD no intron 4 e exon 10/3' UTR. Os testes de genotipagem foram realizados sem o conhecimento dos resultados dos fenótipos. Para os RHD/não-D, 47 foram RhD+ e RHD+/RHCE+, e 3 foram RhD- e RHD-/RHCE+. Para o Kell, 48 kk foram K2K2 e 2 Kk foram K1K2. Para o Duffy, das 44 amostras que haviam sido normais, GATA box, 8 Fy(a+b-) foram FYA/FYA, 15 Fy(a+b-) foram FYB/FYB e 19 Fy(a+b+) foram FYA/FYB; das outras 4 amostras, 3 foram FYA/FYB e heterozigoto GATA mutação, e 1 Fy(a-b-) era FYB/FYB, homozigoto GATA mutação. Duas amostras fenotipadas como Fy(a+b-), que eram normais GATA, apresentavam as mutações 265T/298A e 2 amostras fenotipadas como Fy(a-b+) haviam sido genotipadas como FYA/FYB. Para o Kidd, 15 Jk(a+b-) foram JKA/JKA, 12 Jk(a-b+) foram JKB/JKB, e 20 Jk(a+b+) foram JKA/JKB. Três amostras fenotipadas como JK(a+b+) haviam sido genotipadas como JKB/JKB. A genotipagem é mais acurada que a fenotipagem para determinação de grupos sangüíneos em pacientes portadores de beta talassemia politransfundidos. A genotipagem nesses pacientes pode ser importante para selecionar hemácias antigenicamente negativas para transfusão de glóbulos vermelhos. Abstract in english Determination of Rh, Kell, Duffy and Kidd phenotypes in addition to ABO is used to prevent the alloimmunization to red blood cells (RBCs) antigens and as part of the antibody identification process in patients with beta Thalassemia. However, phenotyping in these patients can be time consuming and di [...] fficult to interpret. In these situations, it would be valuable to have an alternative to hemagglutination tests to determine the patient's antigen profile. We used PCR-RFLP to genotype such patients. DNA was prepared from 50 patients with beta Thalassemia who had been phenotyped by routine hemagglutination, and tested for Kell, Kidd, Duffy/GATA mutation by PCR-RFLP. RHD/non-D was analysed by PCR product size associated to RHD gene sequence in intron 4 and exon 10/3'UTR. The genotyping assays were performed without knowledge of phenotype results. For RHD/non-D, 47 were RhD+ and RHD+/RHCE+, and 3 were RhD- and RHD-/RHCE+. For Kell, 48 kk were K2K2 and 2 Kk were K1K2. For Duffy, of 44 samples that had normal GATA box, 8 Fy(a+b-) were FYA/FYA, 15 Fy(a+b+) were FYB/FYB, and 19 Fy(a+b+) were FYA/FYB; of the other 4 samples 3 were FYA/FYB and heterozygous GATA mutation, and 1 Fy(a-b-) was FYB/FYB, homozygous GATA mutation. Two samples phenotyped as Fy(a+b-) that had normal GATA , presented the 265T/298A mutations and two samples phenotyped as Fy(a-b+) were genotyped was FYA/FYB.. For Kidd , 15 Jk(a+b) were JKA/JKA, 12 Jk(a-b+) were JKB/JKB, and 20 Jk(a+b+) were JKA/JKB. Three samples phenotyped as JK(a+b+) were genotyped as JKB/JKB. Genotype is more accurate than phenotype for determination of blood groups in polytransfused patients with betaThalassemia. Genotyping in these patients can be helpful to select antigen-negative RBCs for transfusion.

Lilian, Castilho; Maria, Rios; Jordão, Pellegrino Jr; Maria H. M., Carvalho; Fernando L., Alberto; Sara T. O., Saad; Fernando F., Costa.

209

Rapid and simultaneous typing of hemoglobin S, hemoglobin C, and seven Mediterranean beta-thalassemia mutations by covalent reverse dot-blot analysis: application to prenatal diagnosis in Sicily.  

Science.gov (United States)

The molecular lesions causing beta-thalassemia in Sicily can be subdivided into two groups. One that occurs at a 71% frequency and consists of the beta 39, IVS 1,110 and IVS 1,6 mutations and the other group at a 20% frequency comprising the -87, beta s, IVS 1,1 and IVS 2,745 mutations. The identification of all these mutations by polymerase chain reaction (PCR) and conventional dot-blot hybridization has been time consuming and expensive. In this article, we describe the implementation of the reverse dot-blot (RDB) hybridization as a rapid nonradioactive method for the identification of the nine most frequent molecular lesions in the beta-globin gene (-87, beta s, beta c, IVS 1,1, IVS 1,6, IVS 1,110, beta 39, IVS 2,1, IVS 2,745) in Sicily. Sixty prenatal diagnoses were performed by this RDB assay, each of which was confirmed by dot-blot/ASO hybridization; thus demonstrating the accuracy of the RDB. The main advantage of this assay is the rapid typing of an individual's DNA for many mutations in a single working day. Because the mutations in this assay are representative for the Mediterranean region, this mutational panel can also be extended to the screening of beta-thalassemia from other Mediterranean regions. PMID:8417793

Maggio, A; Giambona, A; Cai, S P; Wall, J; Kan, Y W; Chehab, F F

1993-01-01

210

Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset ?-thalassemia major  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Genomic DNA of 3 patients, born as healthy carriers and developing a late-onset severe transfusion-dependent beta-thalassemia major was studied by high-density genome wide SNP array analysis. A mosaic loss of heterozygosity for almost the entire 11p was found, not attributable to deletions but involving mosaicism for segmental paternal isodisomy of 11p. Mitotic recombination leading to mosaic segmental uniparental isodisomy on chromosome 11p in multiple tissues has been described as a molecul...

Harteveld, Cornelis L.; Refaldi, Chiara; Giambona, Antonino; Ruivenkamp, Claudia A. L.; Hoffer, Marie?tte J. V.; Pijpe, Jeroen; Knijff, Peter; Borgna-pignatti, Caterina; Maggio, Aurelio; Cappellini, Maria D.; Giordano, Piero C.

2013-01-01

211

Thalassemia major: A report of two cases with severe skeletal involvement  

Directory of Open Access Journals (Sweden)

Full Text Available Beta thalassemia major is rare in Serbia. Previously incurable, affected patients now live to adulthood with regular blood transfusions. The improvement in supportive treatment over recent decades has given rise to many more patients suffering from the associated metabolic complications of anemia and iron overload, such as osteopenia and other skeletal changes. We present two patients with severe beta thalassemia major from early childhood, who encountered pathological long-bone fractures during the clinical course of their disease. One suffered a distal femoral diaphyseal fracture, and the second a distal tibia fracture. Both fractures occurred in osteopenic bone and were managed non-operatively due to the patients' general medical condition. Despite intense medical intervention, both patients died from disease progression within one year of their fractures, aged 23 and 24 years. As life expectancy rises it is anticipated that an increased number of beta thalassemia major patients will suffer pathological long-bone and other osteoporotic fractures. These fractures appear to both herald and contribute to a general clinical deterioration of this disease. Advances in stem-cell technology may hold the key for a definitive cure.

Bumbaširevi? M.

2010-01-01

212

The pancreas in ?-thalassemia major: MR imaging features and correlation with iron stores and glucose disturbunces  

International Nuclear Information System (INIS)

The study aims at describing the MR features of pancreas in beta-thalassemia major, investigating the relations between MR findings and glucose disturbances and between hepatic and pancreatic siderosis. Signal intensity ratios of the pancreas and liver to right paraspinous muscle (P/M, L/M) were retrospectively assessed on abdominal MR imaging studies of 31 transfusion-dependent patients with beta-thalassemia major undergoing quantification of hepatic siderosis and 10 healthy controls, using T1- (120/4/90), intermediate in and out of phase - (120/2.7, 4/20), and T2*-(120/15/20) weighted GRE sequences. Using the signal drop of the liver and pancreas on opposed phase images, we recorded serum ferritin and results of oral glucose tolerance test (OGTT). Decreased L/M and P/M on at least the T2* sequence were noticed in 31/31 and 30/31 patients, respectively, but no correlation between P/M and L/M was found. Patients with pathologic OGTT displayed a higher degree of hepatic siderosis (p < 0.04) and signal drop of pancreas on opposed phase imaging (p < 0.025), implying fatty replacement of pancreas. P/M was neither correlated with glucose disturbances nor serum ferritin. Iron deposition in the pancreas cannot be predicted by the degree of hepatic siderosis in beta-thalassemia major. Fatty replacement of the pancreas is common and may be associated with glucose disturbances. (orig.)

213

Prevalence of Diabetes and Impaired Glucose Tolerance Test in Patients with Thalassemia Major  

Directory of Open Access Journals (Sweden)

Full Text Available Background: Diabetes is one of the most common endocrine disorder worldwide that due to high prevalence and chronic nature of diabetes imposes a heavy cost on health care system. Therefore this study aimed to assess prevalence of diabetes among patients with beta thalassemia major. Materials and Methods: This descriptive study was conducted on 364 patients with beta thalassemia major that received at least 100 blood bags. For evaluation of diabetes among these patients, fasting blood sugar and glucose tolerance test were done. Finally relationship between age, gender, age at beginning of transfusion and chelating therapy with occurrence of diabetes were analysis by SPSS-17 software. Results: Among 364 patients with mean age of 17.7±4.9 years prevalence of diabetes was 15.1% (58 patients that 37.9% (22 patients were women and 62.1 (38 patients were men5T. Conclusion: Due to high prevalence of diabetes in patients with beta thalassemia major, regular check up for endocrine disorders should be consider in these patients5T.5T

Mehdi Jahantigh

2014-01-01

214

Alkaloids from Egyptian Papaver rhoeas.  

Science.gov (United States)

N-methylasimilobine was isolated as the major alkaloid from an Egyptian sample of P. RHOEAS L. Other alkaloids isolated from the same plant material were stylopine, coptisine, isocorydine and rhoeadine. Chromatography indicated the presence of at least nine other minor alkaloids. PMID:17401817

El-Masry, S; El-Ghazooly, M G; Omar, A A; Khafagy, S M; Phillipson, J D

1981-01-01

215

Percutaneous excretion of iron and ferritin (through Al-hijamah) as a novel treatment for iron overload in beta-thalassemia major, hemochromatosis and sideroblastic anemia.  

Science.gov (United States)

Iron overload is a big challenge when treating thalassemia (TM), hemochromatosis and sideroblastic anemia. It persists even after cure of TM with bone marrow transplantation. Iron overload results from increased iron absorption and repeated blood transfusions causing increased iron in plasma and interstitial fluids. Iron deposition in tissues e.g. heart, liver, endocrine glands and others leads to tissue damage and organ dysfunction. Iron chelation therapy and phlebotomy for iron overload have treatment difficulties, side effects and contraindications. As mean iron level in skin of TM patients increases by more than 200%, percutaneous iron excretion may be beneficial. Wet cupping therapy (WCT) is a simple, safe and economic treatment. WCT is a familiar treatment modality in some European countries and in Chinese hospitals in treating different diseases. WCT was reported to clear both blood plasma and interstitial spaces from causative pathological substances (CPS). Standard WCT method is Al-hijamah (cupping, puncturing and cupping, CPC) method of WCT that was reported to clear blood and interstitial fluids better than the traditional WCT (puncturing and cupping method, PC method of WCT). In other word, traditional WCT may be described as scarification and suction method (double S technique), while Al-hijamah may be described as suction, scarification and suction method (triple S technique). Al-hijamah is a more comprehensive treatment modality that includes all steps and therapeutic benefits of traditional dry cupping therapy and WCT altogether according to the evidence-based Taibah mechanism (Taibah theory). During the first cupping step of Al-hijamah, a fluid mixture is collected inside skin uplifting due to the effect of negative pressure inside sucking cups. This fluid mixture contains collected interstitial fluids with CPS (iron, ferritin and hemolyzed RBCs in thalassemia), filtered fluids (from blood capillaries) with iron and hemolyzed blood cells (hemolyzed RBCs, WBCs and platelets). That fluid mixture does not contain intact blood cells (having diameters in microns) that are too big to pass through pores of skin capillaries (6-12nm in diameter) and cannot be filtered. Puncturing skin upliftings and applying second cupping step excrete collected fluids. Skin scarifications (shartat mihjam in Arabic) should be small, superficial (0.1mm in depth), short (1-2mm in length), multiple, evenly distributed and confined to skin upliftings. Sucking pressure inside cups (-150 to -420mmHg) applied to skin is transmitted to around skin capillaries to be added to capillary hydrostatic pressure (-33mmHg at arterial end of capillaries and -13mmHg at venous end of capillaries) against capillary osmotic pressure (+20mmHg). This creates a pressure gradient and a traction force across skin and capillaries and increases filtration at arterial end of capillaries at net pressure of -163 to -433mmHg and at venous end of capillaries at net pressure of -143 to -413mmHg resulting in clearance of blood from CPS (iron, ferritin and hemolyzed blood cells). Net filtration pressure at renal glomeruli is 10mmHg i.e. Al-hijamah exerts a more pressure-dependent filtration than renal glomeruli. Al-hijamah may benefit patients through inducing negative iron balance. Interestingly, Al-hijamah was reported to decrease serum ferritin significantly (by about 22%) in healthy subjects while excessive traditional WCT was reported to cause iron deficiency anemia. Al-hijamah is a highly recommended treatment in prophetic medicine. In conclusion, Al-hijamah may be a promising adjuvant treatment for iron overload in TM, hemochromatosis and sideroblastic anemia. PMID:24857772

El Sayed, Salah Mohamed; Abou-Taleb, Ashraf; Mahmoud, Hany Salah; Baghdadi, Hussam; Maria, Reham A; Ahmed, Nagwa Sayed; Nabo, Manal Mohamed Helmy

2014-08-01

216

MRI of the liver and the pituitary gland in patients with {beta}-thalassemia major: Does hepatic siderosis predict pituitary iron deposition?  

Energy Technology Data Exchange (ETDEWEB)

Our objective was to study, in thalassemic patients, if hepatic siderosis evaluated by MRI could predict the pituitary iron overload. In 36 thalassemic patients (age range 6-44 years, mean age 21.7 years) the liver/fat ratio (L/F), the pituitary/fat ratio (P/F), the liver and pituitary T2 relaxation times were evaluated, by using a multiecho spin-echo sequence. Serum ferritin levels were measured and an extensive endocrine evaluation was performed. The L/F, the P/F and pituitary T2 showed a good correlation with serum ferritin (r=-0.55, r=-0.55 and r=-0.53, respectively; p<0.01). Liver T2 did not show significant correlation with serum ferritin. The variability of L/F explained only the 10.8% of the variability of pituitary T2 and of the P/F. When ferritin was added to the model it predicted only the 26.85% and the 30.8% of the variability of pituitary T2 and of the P/F, respectively. The P/F and pituitary T2 were lower in patients with hypogonadotropic hypogonadism (group 1) compared with those without pituitary dysfunction (group 2). No significant differences of L/F were found between the two groups. Hepatic iron overload evaluated by MR is a poor predictor of pituitary siderosis. The MR studies of the pituitary gland might be necessary to evaluate the pituitary iron overload. (orig.)

Argyropoulou, Maria I.; Efremidis, Stavros C. [Department of Radiology, Medical School, University of Ioannina, 45110 Ioannina (Greece); Kiortsis, Dimitrios N. [Laboratory of Physiology, Medical School, University of Ioannina, 45110 Ioannina (Greece)

2003-01-01

217

Genotypes and haplotypes in the 3' untranslated region of the HLA-G gene and their association with clinical outcome of hematopoietic stem cell transplantation for beta-thalassemia.  

Science.gov (United States)

Polymorphisms in the 3' untranslated region (3'UTR) of HLA-G, an important player in immunological tolerance, could be involved in post-transcriptional expression control, and their association with different clinical immune-related conditions including autoimmunity and transplantation is of mounting interest. Most studies have focused on a 14 base pair (bp) insertion/deletion (ins/del), while additional single-nucleotide polymorphisms (SNPs) in the HLA-G 3'UTR have been described but not extensively investigated for their clinical relevance. Here we have comparatively studied the association between 3'UTR haplotypes of HLA-G, or the 14 bp ins/del, with clinical outcome of HLA-identical sibling hematopoietic stem cell transplantation (HSCT) in 147 Middle Eastern beta-thalassemia patients. Sequence based typing of 3'UTR HLA-G polymorphisms in the patients and in 102 healthy Italian blood donors showed strong linkage disequilibrium between the 14 bp ins/del and five 3'UTR SNPs, which together could be arranged into eight distinct haplotypes based on expectation-maximization studies, with four predominant haplotypes (UTRs1-4). After HSCT, we found a moderate though not significant association between the presence of UTR-2 in double dose and protection from acute graft versus host disease (hazard ratio (HR) 0.45, 95% confidence intervals (CI): 0.14-1.45; P = 0.18), an effect that was also seen when the corresponding 14 bp ins/ins genotype was considered alone (HR 0.42, 95% CI: 0.16-1.06; P = 0.07). No association was found with rejection or survival. Taken together, our data show that there is no apparent added value of considering entire 3'UTR HLA-G haplotypes for risk prediction after allogeneic HSCT for beta-thalassemia. PMID:22489942

Sizzano, F; Testi, M; Zito, L; Crocchiolo, R; Troiano, M; Mazzi, B; Turchiano, G; Torchio, M; Pultrone, C; Gregori, S; Chiesa, R; Gaziev, J; Sodani, P; Marktel, S; Amoroso, A; Roncarolo, M G; Lucarelli, G; Ciceri, F; Andreani, M; Fleischhauer, K

2012-05-01

218

Egyptian Clover (Trifolium alexandrinum L. Breeding in Egypt: A Review  

Directory of Open Access Journals (Sweden)

Full Text Available Berseem or Egyptian clover is a winter annual legume of major importance to Egyptian agriculture as a principle source of forage and for conserving soil fertility under intensive cropping. In this review, the published work by authors on breeding Egyptian clover (Trifolium alexandrinum L. for productivity in Egypt has been summarized since 1980. The variability of the genotypes, genotypic and phenotypic correlation, Path coefficient, the breeding strategies, pollination and seed setting for Egyptian clover are presented. The genetics and productivity of Egyptian clover are recorded. The objectives of this review are enrichment the background for the investigators working in Egyptian clover breeding. Finally the achievements and the needed cooperation on the national level are also outlined.

Bahy R. Bakheit

2013-01-01

219

The identification of beta-thalassemia mutants in Brazilians with high Hb F levels / Identificação de mutantes de beta talassemia em grupo de indivíduos com Hb Fetal aumentada da população brasileira  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: English Abstract in portuguese As hemoglobinopatias são um grupo de afecções genéticas que representam problema de saúde pública em muitos países em que sua incidência é alta, com significativa morbidade. Objetivamos identificar defeitos moleculares que pudessem explicar o perfil laboratorial obtido por eletroforese e HPLC com Hb [...] F elevada, em um grupo de indivíduos adultos sem sinais ou sintomas de anemia. Encontramos cinco diferentes mutações que originam beta talassemia por PCR-ASO: três casos com CD 6 (-A), um CD 39, um IVS 1-5, um -87 todas de origem mediterrânea, e um IVS II-654 de origem asiática. As mutações CD 6 (-A), -87 e IVS II-654 foram descritas pela primeira vez na população brasileira. Abstract in english Hemoglobinopathies are a heterogeneous group of genetic disorders which represent a public health problem, with significant morbidity, in countries where the prevalence is high. This study aimed at identifying molecular abnormalities that might explain the laboratorial profile obtained using electro [...] phoresis and high performance liquid chromatography in a group of individuals without signs or clinical symptoms of anemia. Five different mutations for beta-thalassemia were found using PCR-ASO: three cases with CD 6 (-A), one CD 39, one IVI I-6, one -87 (mutations originating in the Mediterranean region) and one IVS II-654 (mutation originating in Asia). This is the first time that the CD 6 (-A), -87 and IVS II-654 mutations have been described in the Brazilian population.

Paula J. A., Zamaro; Claudia R., Bonini-Domingos.

220

Total Antioxidant Status in Patients with Major ?-Thalassemia  

Directory of Open Access Journals (Sweden)

Full Text Available Objective:Beta-thalassemia major is an autosomal recessive disease causing severe and hemolytic anemia, which begins about 2-6 months after birth. Iron overload, which arises from recurrent transfusion and ineffective erythropoiesis, can enhance oxidative stress in thalassemic patients. The aim of this study was to evaluate the serum total antioxidant capacity of patients with ß-Thalassemia major. Methods:Sixty six Iranian patients with ?-thalassemia major and 66 age-gender matched controls were evaluated for serum total antioxidant status (TAS, uric acid (UA, bilirubin and albumin. In addition, serum ferritin and transaminases were recorded in these subjects. Findings: Significant increases of TAS, UA, and bilirubin were observed in the patient group, compared with the control group (P<0.01. Mean TAS and bilirubin in male patients was higher than in females (P=0.005 and P=0.008, respectively. There was also direct correlation between TAS and albumin (P<0.001, bilirubin (P<0.001 and UA (P=0.002. Conclusion: Endogenous antioxidants such as ferritin, UA and bilirubin can result in increased level of TAS in the patients with Beta-thalassemia major. Compensatory excess of TAS to oxidative stress could also be the reason for difference between our findings and previous studies.

Lili Koochakzadeh

2011-06-01

 
 
 
 
221

Total Antioxidant Status in Patients with Major ? -Thalassemia  

Directory of Open Access Journals (Sweden)

Full Text Available Objective:Beta-thalassemia major is an autosomal recessive disease causing severe and hemolytic anemia, which begins about 2-6 months after birth. Iron overload, which arises from recurrent transfusion and ineffective erythropoiesis, can enhance oxidative stress in thalassemic patients. The aim of this study wasto evaluate theserum total antioxidant capacity of patients with ß-Thalassemia major.Methods:Sixty six Iranian patients with ?-thalassemia major and 66 age-gender matched controls were evaluated for serum total antioxidant status (TAS, uric acid (UA, bilirubin and albumin. In addition, serum ferritin and transaminases were recorded in these subjects.Findings: Significant increases of TAS, UA, and bilirubin were observed in the patient group, compared with the control group (P< 0.01. Mean TAS and bilirubin in male patients was higher than in females (P=0.005 and P=0.008, respectively. There was also direct correlation between TAS and albumin (P< 0.001, bilirubin (P< 0.001 and UA (P=0.002.Conclusion: Endogenous antioxidants such as ferritin, UA and bilirubin can result in increased level of TAS in the patients with Beta-thalassemia major. Compensatory excess of TAS to oxidative stress could also be the reason for difference between our findings and previous studies.

Fatemeh Bazvand

2011-06-01

222

Multiple transfused thalassemia major: Ocular manifestations in a hospital-based population  

Directory of Open Access Journals (Sweden)

Full Text Available Purpose: To study the ocular manifestations in multiple transfused beta-thalassemia major patients and assess the ocular side-effects of iron chelating agents. Materials and Methods: In this prospective observational study, 45 multiple transfused beta-thalassemia major children between six months and 21 years of age were enrolled and assigned groups according to the treatment regimens suggested. Group A received only blood transfusions, Group B blood transfusions with subcutaneous desferrioxamine, Group C blood transfusions with desferrioxamine and oral deferriprone and Group D blood transfusions with deferriprone. Ocular status at the time of enrolment was documented. Subjects were observed quarterly for one year for changes in ocular status arising due to the disease process and due to iron chelation therapy. Children with hemoglobinopathies other than beta-thalassemia major, congenital ocular anomalies and anemia due to other causes were excluded. Results: Ocular involvement was observed in 58% of patients. Lenticular opacities were the most common ocular finding (44%, followed by decreased visual acuity (33%. An increased occurrence of ocular changes was observed with increase of serum ferritin and serum iron levels as well as with higher number of blood transfusions received. Desferrioxamine seemed to have a protective influence on retinal pigment epithelium (RPE mottling. Occurrence of lenticular opacities and RPE degeneration correlated positively with use of desferrioxamine and deferriprone respectively. Follow-up of patients for one year did not reveal any change in ocular status. Conclusion: Regular ocular examinations can aid in preventing, delaying or ameliorating the ocular complications of thalassemia.

Taneja Rashi

2010-01-01

223

Interação entre Hb C [beta6(A3)Glu>Lys] e IVS II-654 (C>T) beta-talassemia no Brasil / Hb C [beta6(A3)Glu>Lys] and IVS II - 654 (C>T) beta thalassemia interaction in Brazil  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: Portuguese Abstract in portuguese [...] Abstract in english Thalassemias are a heterogeneous group of inherited disorders characterized by a microcytic hypochromic anemia and an imbalance in the synthesis of the globin-chains. Hb C is the second most frequently variant of hemoglobin found in Brazil. The laboratory diagnosis of hemoglobinopathies, including t [...] halassemias, is growing in importance, particularly because of an increasing requirement for neonatal diagnosis of abnormal hemoglobins. Screening tests were carried out using alkaline and acid electrophoresis, globin-chain analysis by cellulose acetate in alkaline pH, isoelectric focusing and HPLC. The molecular characterization was made by PCR-ASO for Hb C and beta thalassemia mutants. Large-scale screening and discriminative methodologies must provide information about the hemoglobin polymorphisms in Brazilian population. HPLC is a powerful tool in these cases. Molecular characterization is important to genetic counseling and clinical management, in particular for the Brazilian population that have an intense racial admixture, with great variability of hemoglobins. In this paper an association between Hb C and beta thalassemia (IVS-II-654) in a black family from Brazil was described.

Claudia R., Bonini-Domingos; Ana C., Bonini-Domingos; Ana R., Chinelato; Paula J. A., Zamaro; Patrícia H. O., Calderan.

224

Interação entre Hb C [beta6(A3)Glu>Lys] e IVS II-654 (C>T) beta-talassemia no Brasil / Hb C [beta6(A3)Glu>Lys] and IVS II - 654 (C>T) beta thalassemia interaction in Brazil  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: Portuguese Abstract in portuguese [...] Abstract in english Thalassemias are a heterogeneous group of inherited disorders characterized by a microcytic hypochromic anemia and an imbalance in the synthesis of the globin-chains. Hb C is the second most frequently variant of hemoglobin found in Brazil. The laboratory diagnosis of hemoglobinopathies, including t [...] halassemias, is growing in importance, particularly because of an increasing requirement for neonatal diagnosis of abnormal hemoglobins. Screening tests were carried out using alkaline and acid electrophoresis, globin-chain analysis by cellulose acetate in alkaline pH, isoelectric focusing and HPLC. The molecular characterization was made by PCR-ASO for Hb C and beta thalassemia mutants. Large-scale screening and discriminative methodologies must provide information about the hemoglobin polymorphisms in Brazilian population. HPLC is a powerful tool in these cases. Molecular characterization is important to genetic counseling and clinical management, in particular for the Brazilian population that have an intense racial admixture, with great variability of hemoglobins. In this paper an association between Hb C and beta thalassemia (IVS-II-654) in a black family from Brazil was described.

Claudia R., Bonini-Domingos; Ana C., Bonini-Domingos; Ana R., Chinelato; Paula J. A., Zamaro; Patrícia H. O., Calderan.

2003-06-01

225

Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset ?-thalassemia major.  

Science.gov (United States)

Genomic DNA of 3 patients, born as healthy carriers and developing a late-onset severe transfusion-dependent beta-thalassemia major was studied by high-density genome wide SNP array analysis. A mosaic loss of heterozygosity for almost the entire 11p was found, not attributable to deletions but involving mosaicism for segmental paternal isodisomy of 11p. Mitotic recombination leading to mosaic segmental uniparental isodisomy on chromosome 11p in multiple tissues has been described as a molecular disease mechanism for a subset of sporadic Beckwith-Wiedemann syndrome cases. A similar mechanism also seems to be involved in causing late-onset disease in carriers of recessive mutations in other genes located in 11p, such as late-onset beta-thalassemia major and sickle cell disease. We suggest that the loss of maternally imprinted IGF-2 and H19 genes may account for the selective advantage of hematopoietic cells containing this segmental paternal isodisomy of 11p carrying the ?-thalassemia mutation. PMID:22983591

Harteveld, Cornelis L; Refaldi, Chiara; Giambona, Antonino; Ruivenkamp, Claudia A L; Hoffer, Mariëtte J V; Pijpe, Jeroen; De Knijff, Peter; Borgna-Pignatti, Caterina; Maggio, Aurelio; Cappellini, Maria D; Giordano, Piero C

2013-05-01

226

Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset ?-thalassemia major  

Science.gov (United States)

Genomic DNA of 3 patients, born as healthy carriers and developing a late-onset severe transfusion-dependent beta-thalassemia major was studied by high-density genome wide SNP array analysis. A mosaic loss of heterozygosity for almost the entire 11p was found, not attributable to deletions but involving mosaicism for segmental paternal isodisomy of 11p. Mitotic recombination leading to mosaic segmental uniparental isodisomy on chromosome 11p in multiple tissues has been described as a molecular disease mechanism for a subset of sporadic Beckwith-Wiedemann syndrome cases. A similar mechanism also seems to be involved in causing late-onset disease in carriers of recessive mutations in other genes located in 11p, such as late-onset beta-thalassemia major and sickle cell disease. We suggest that the loss of maternally imprinted IGF-2 and H19 genes may account for the selective advantage of hematopoietic cells containing this segmental paternal isodisomy of 11p carrying the ?-thalassemia mutation. PMID:22983591

Harteveld, Cornelis L.; Refaldi, Chiara; Giambona, Antonino; Ruivenkamp, Claudia A. L.; Hoffer, Mariette J. V.; Pijpe, Jeroen; De Knijff, Peter; Borgna-Pignatti, Caterina; Maggio, Aurelio; Cappellini, Maria D.; Giordano, Piero C.

2013-01-01

227

The Relation between Left Ventricular Function and Serum Ferritin in Major ?-Thalassemia  

Directory of Open Access Journals (Sweden)

Full Text Available AbstractObjectiveCardiac dysfunction is a major cause of death in patients with beta thalassemia. In these patients, repeated blood transfusion, ineffective erythropoiesis and increased gastrointestinal iron absorption lead to iron overload in the body and this induced heart failure. Left ventricular ejection fraction was measured in major beta thalassemia (?-Th patients to detect the relation of serum ferritin level and left ventricular systolic function.Materials and MethodsThe present prospective study evaluated 75 patients with ?-thalassemia (39 female, 36 male aged one to 44 years old. They were treated with desferal 5 days a week for at least six months. For this study they treated by desferal 7 days a week. Left ventricular ejection fraction and serum ferritin were measured before and after intervention, and they were compared for the best treatment.ResultsThe mean ejection fraction was 60.45% and 62.9% before and after aggressive therapy, which difference was significant. Serum ferritin level also was reduced after intervention. Difference between mean ferritin before and after intervention was 49.984. Serum ferritin showed negative correlation with left ventricular function.ConclusionLower serum ferritin concentration with aggressive therapy was associated with better left ventricular function.

Montazare Lotfe Elahi S

228

Serum ferritin levels, socio-demographic factors and desferrioxamine therapy in multi-transfused thalassemia major patients at a government tertiary care hospital of Karachi, Pakistan  

Directory of Open Access Journals (Sweden)

Full Text Available Abstract Background Beta thalassemia is the most frequent genetic disorder of haemoglobin synthesis in Pakistan. Recurrent transfusions lead to iron-overload manifested by increased serum Ferritin levels, for which chelation therapy is required. Findings The study was conducted in the Pediatric Emergency unit of Civil Hospital Karachi after ethical approval by the Institutional Review Board of Dow University of Health Sciences. Seventy nine cases of beta thalassemia major were included after a written consent. The care takers were interviewed for the socio-demographic variables and the use of Desferrioxamine therapy, after which a blood sample was drawn to assess the serum Ferritin level. SPSS 15.0 was employed for data entry and analysis. Of the seventy-nine patients included in the study, 46 (58.2% were males while 33 (41.8% were females. The mean age was 10.8 (± 4.5 years with the dominant age group (46.2% being 10 to 14 years. In 62 (78.8% cases, the care taker education was below the tenth grade. The mean serum Ferritin level in our study were 4236.5 ng/ml and showed a directly proportional relationship with age. Desferrioxamine was used by patients in 46 (58.2% cases with monthly house hold income significant factor to the use of therapy. Conclusions The mean serum Ferritin levels are approximately ten times higher than the normal recommended levels for normal individuals, with two-fifths of the patients not receiving iron chelation therapy at all. Use of iron chelation therapy and titrating the dose according to the need can significantly lower the iron load reducing the risk of iron-overload related complications leading to a better quality of life and improving survival in Pakistani beta thalassemia major patients. Conflicts of Interest: None

Rehman Anis

2011-08-01

229

Laboratory assessment of iron status and reticulocyte parameters in differential diagnosis of iron deficiency anemia and heterozygous beta-thalassemia / Avaliação laboratorial do estado do ferro e parâmetros reticulocitários no diagnóstico diferencial da anemia ferropriva e beta-talassemia heterozigótica  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: English Abstract in portuguese Introdução: A forma solúvel do receptor da transferrina (sTfR) tem sido indicada como um parâmetro útil na avaliação do estado do ferro e da atividade eritropoiética. Reticulócitos imaturos apresentam alta concentração dos receptores de transferrina na sua membrana. Estudamos a correlação entre sTfR [...] e parâmetros reticulocitários em pacientes com anemia ferropriva (AF) e com beta-talassemia heterozigótica (beta-tal hetero). Os parâmetros laboratoriais relacionados ao estado do ferro e reticulócitos foram estudados a fim de se estabelecer a utilidade clínica dos mesmos na distinção entre os dois tipos de anemia. Material e métodos: As medidas reticulocitárias foram obtidas usando-se um analisador hematológico semi-automático, e as concentrações de sTfR foram determinadas por técnica imunoenzimática. Foram estudados 49 pacientes com AF e 43 com beta-tal hetero. Resultados: As contagens de reticulócitos e os valores de sTfR foram significativamente mais elevados na AF do que na beta-tal hetero, mas o melhor parâmetro para diferenciar as duas anemias foi o índice de sTfR, obtido pela razão sTfR/ferritina. O compartimento de transporte foi mais bem avaliado pela dosagem de transferrina do que pela capacidade de ligação do ferro à transferrina (TIBC). A associação do ferro sérico à medida de transferrina (índice de transferrina) melhorou a acurácia do teste de transferrina. Discussão: A correlação entre reticulócitos imaturos e nível de sTfR foi observada apenas no grupo com AF, sugerindo que a falta de ferro intracelular seja o principal fator responsável pelo estímulo à síntese de sTfR nas células sangüíneas imaturas. Os valores elevados de sTfR nos pacientes com beta-tal hetero refletem um certo grau de eritropoiese ineficaz nessa hemoglobinopatia. Conclusão: Concluímos que as medidas de sTfR, ferritina e transferrina são parâmetros úteis e precisos para diferenciar AF de beta-tal hetero. Abstract in english Introduction:The soluble form of transferrin receptor (sTfR) has been pointed as a useful parameter to assess the iron status and erythropoiesis activity. Immature reticulocytes present high concentration of membrane transferrin receptor. We tested the correlation between sTfR and reticulocyte param [...] eters in iron deficiency anemia (IDA) and heterozygous beta-thalassemia (hetero beta-thal) patients. Laboratory parameters related to iron status and reticulocytes were studied in order to establish their clinical value to distinguish both anemias. Material and Methods: Reticulocyte measurements were obtained using a semi-automated analyzer and serum concentration of sTfR was determined by an immunoenzymatic technique. Forty-nine IDA and 43 hetero beta-thal patients were studied. Results: Reticulocyte count and sTfR values were significantly higher in IDA than in hetero beta-thal group, but the best parameter to distinguish both anemias was sTfR index, obtained by the ratio sTfR/ferritin level. Transport compartment was better evaluated by transferrin dosage than by transferrin iron binding capacity (TIBC) determination. The association of serum iron with transferrin measurements (transferrin index) improved the accuracy of the transferrin test. Discussion: The correlation between highly immature reticulocytes and sTfR level was observed only in IDA group, suggesting that cellular iron deprivation is the main responsible factor for up regulation of the sTfR synthesis in immature red blood cells. High sTfR values in hetero beta-thal patients reflect a degree of ineffective erythropoiesis in this hemoglobinopathy. Conclusion: We concluded that sTfR, ferritin and transferrin measurements are useful and precise parameters to discriminate IDA from hetero beta-thal patients.

Gisélia A.F.M. de, Lima; Helena Z.W., Grotto.

230

Marcadores eletrocardiográficos para detecção precoce de doença cardíaca em pacientes com talassemia beta maior Electrocardiographic markers for the early detection of cardiac disease in patients with beta-thalassemia major  

Digital Repository Infrastructure Vision for European Research (DRIVER)

OBJETIVO: Analisar comparativamente a dispersão da onda P (DOP) em pacientes com talassemia beta maior (?-TM) e indivíduos saudáveis (controles) para a detecção precoce do risco de arritmias. MÉTODOS: Oitenta e uma crianças com ?-TM, com idades entre 4 e 19 anos, e 74 crianças saudáveis (grupo controle) foram submetidas a exame eletrocardiográfico e ecocardiograma transtorácico de rotina para avaliação cardíaca. A DOP foi calculada como a diferença entre as durações...

Kemal Nisli; Yavuz Taner; Oner Naci; Salcioglu Zafer; Karakas Zeynep; Dindar Aygun; Umrah Aydogan; Rukiye Eker; Turkan Ertugrul

2010-01-01

231

Muslim Egyptian and Lebanese Students' Conceptions of Biological Evolution  

Science.gov (United States)

In this study, we investigated distinctions among the diversity of religious traditions represented by Lebanese and Egyptian Muslim high school students regarding their understanding and acceptance of biological evolution and how they relate the science to their religious beliefs. We explored secondary students' conceptions of evolution among members of three Muslim sects—Sunni, Shiite, and Druze—in two cultural contexts; one in which the overwhelming majority of the population is Muslim (Egypt) and another in which there is a sizable Christian community (Lebanon). Data were collected via surveys that examined students' scientific and religious understandings of evolution among 162 Egyptian students (all Sunni Muslims; 63% females and 37% males) and 629 Lebanese students (38.5% Sunni, 38% Shiite, and 23.5% Druze; 49% females and 51% males). Additional data were collected via semi-structured interviews with 30 Lebanese students to allow triangulation of data for accuracy and authenticity. Results indicate that many Egyptian and Lebanese Muslim students have misconceptions about evolution and the nature of science which often lead to rejection of evolution. Also, Lebanese Sunni and Shiite students and Egyptian Sunni students tend to exhibit high levels of religiosity, and these students report that their religious beliefs influence their positions regarding evolution. Finally, Sunni and Shiite Lebanese students have religious beliefs, conceptions of evolution, and positions regarding evolution similar to those of Sunni Egyptian students. These conceptions and positions, however, are substantially different from those of Druze Lebanese students.

Boujaoude, Saouma; Wiles, Jason R.; Asghar, Anila; Alters, Brian

2011-09-01

232

The Egyptian Adventure  

Science.gov (United States)

This project is an integrated study for 8-9 year olds encompassing reading, geography, history, math, and science. The literature groups are reading the following fictional books: Ms. Frizzle\\'s Adventures Ancient Egypt by Cole and Degen, Tut, Tut by Jon Scieska, A to Z Mystery - Mummy Mystery by Ron Roy, and Jigsaw Jones - The Case of the Missing Mummy by James Preller. Various non-fiction resources are also being used by the students: Eyewitness Books - Secret of the Mummies, Mummies, Tombs, and Treasure by Lila Perl, and Mummies by C. Wilcox. These essential questions were created by third grade students: How did the rule of pharoahs begin? Who were important pharoahs? What are some facts about pyramids? Ancient Egypt (British Museum) Ancient Egypt Egypt What were the religious beliefs of the ancient Egyptians? Ancient Egypt (British Museum) Ancient Egypt Egypt What are some facts about the Nile River? Why the ...

Lai, Ms.

2007-02-08

233

Evaluation of Glucose Metabolism, Thyroid Function, Growth and Development Pattern and Calcium Status in Patients with Thalassemia Major  

Directory of Open Access Journals (Sweden)

Full Text Available Thalassemia major is a genetic disorder. Blood transfusion is critical for survival in these patients. Over the course of the past two and three decade`s hypertransfusion therapy in these patients has increased significant improvement in life expectancy and quality of life. Unfortunately, this type of therapy increased the frequency of complication due to iron overloud. In the past endocrine abnormalities were very common in beta-thalassemia patients but it is more common now. The aim of this study was evaluation of prevalence of endocrine disturbances in patients with thalassemia major greater than 10 years old. Fifty six patients with thalassemia major greater than 10 years enrolled. Physicians collected demographic data and history of therapies as well as menstrual history in female. Patients have been examined to determine their pubertal status and SDS of height for evaluation of short stature. For evaluation of glucose tolerance, fasting blood glucose and oral glucose tolerance test were performed. Serum level of calcium, phosphorous, thyroid stimulating hormone, free thyroxin, luteinizing hormone and follicular stimulating hormone, estradiol in girls and testosterone in boys were measured. Fifty six patients with thalassemia major 10-27 years old were evaluated. In this study prevalence of diabetes mellitus, impaired fasting glucose and impaired glucose tolerance test were 8.9, 28.6 and 7.1%, respectively. Short stature (SDS= -2 was seen in 70 of boys and 73% of girls. Hypocalcaemia and primary overt hypothyroidism were present in 41 and 16%, respectively. 14.3% of our patients have not any endocrine abnormalities. Despite recent therapy with Desferal in the management of beta-thalassemia major, the risk of secondary endocrine dysfunction remains high. Hypogonadism is one of the most frequent endocrine complications. Endocrine evaluation in patients with thalassemia major must be carried out regularly especially in those patients over the age of 10 years in tabriz.

2008-01-01

234

American and Egyptian Attitudes Toward Death  

Science.gov (United States)

Templer's Death Anxiety Scale was translated into Arabic and then administered to Egyptians. Analyses revealed their mean scores did not differ significantly from those of American subjects. ( Author)

Beshai, James A.; Templer, Donald I.

1978-01-01

235

Transnational NGOs and Egyptian Authoritarianism  

DEFF Research Database (Denmark)

Among the countries of the “Arab spring” in the Middle East and North Africa only Egypt claims both a popular revolution and a coup. With a civic revolt in 2011 Egyptians mobilized resources to overthrow an authoritarian ruler. Two years later with a military coup the public fragmented into antagonistic factions: (i) those continuously insisting “shariyah”, the legality of the original revolution of the 25th January 2011; and (ii) proponents of the “inqilab”, the army takeover of July 3rd 2013. This paper explores the role of transnational NGOs (TNGOs)1 in this unresolved political stalemate. With nationwide mass protests in January 2011 Egyptians demanded “rahil”, the departure of Hosni Mubarak, the country’s long term autocratic ruler. Protesters called for “Eish” bread (Life) “karama” dignity and “huriya” freedom for all. These euphoric public eruptions marked the culmination of long term entrenched civic engagement. Over the years Egyptian activists established grassroots critical social movements and organizations to directly and indirectly challenge the military regime.

Farah, Abdulkadir Osman

2014-01-01

236

Detection of a major gene for heterocellular hereditary persistence of fetal hemoglobin after accounting for genetic modifiers  

Energy Technology Data Exchange (ETDEWEB)

[open quotes]Heterocellular hereditary persistence of fetal hemoglobin[close quotes] (HPFH) is the term used to describe the genetically determined persistence of fetal hemoglobin (Hb F) production into adult life, in the absence of any related hematological disorder. Whereas some forms are caused by mutations in the [beta]-globin gene cluster on chromosome 11, others segregate independently. While the latter are of particular interest with respect to the regulation of globin gene switching, it has not been possible to determine their chromosomal location, mainly because their mode of inheritance is not clear, but also because several other factors are known to modify Hb F production. The authors have examined a large Asian Indian pedigree which includes individuals with heterocellular HPFH associated with [beta]-thalassemia and/or [alpha]-thalassemia. Segregation analysis was conducted on the HPFH trait FC, defined to be the percentage of Hb F-containing cells (F-cells), using the class D regressive model. The results provide evidence for the presence of a major gene, dominant or codominant, which controls the FC values with residual familial correlations. The major gene was detected when the effects of genetic modifiers, notably [beta]-thalassemia and the XmnI-[sup G][gamma] polymorphism, are accounted for in this analysis. Linkage with the [beta]-globin gene cluster is excluded. The transmission of the FC values in this pedigree is informative enough to allow detection of linkage with an appropriate marker(s). The analytical approach outlined in this study, using simple regression to allow for genetic modifiers and thus allowing the mode of inheritance of a trait to be dissected out, may be useful as a model for segregation and linkage analyses of other complex phenotypes. 39 refs., 4 figs., 6 tabs.

Thein, S.L.; Weatherall, D.J. (Institute of Molecular Medicine, Oxford (United Kingdom)); Sampietro, M.; Rohde, K.; Rochette, J.; Lathrop, G.M.; Demenais, F.

1994-02-01

237

Egyptian and foreign cigarettes Pt. 1  

International Nuclear Information System (INIS)

NAA was employed to determine the concentration of 27 elements in an Egyptian cigarette filter before and after smoking. The filter of three foreign cigarette brands were also analyzed and compared to the Egyptian brand. The elements determined are Al, As, Ba, Br, Ce, Cl, Co, Cr, Cs, Eu, Fe, Hf, K, La, Mg, Mn, Na, Ni, Rb, Sb, Sc, Se, Sr, Th, Ti, V and Zn. It was observed that the concentration of the measured elements in the Egyptian brand were within the concentration range of foreign brands, and that the concentration of As, Br, Cl, K, Na and Se in the filters increased after smoking regardless the brands examined. (author)

238

Effect of hepatic iron concentration and viral factors in chronic hepatitis C-infected patients with thalassemia major, treated with interferon and ribavirin  

Directory of Open Access Journals (Sweden)

Full Text Available Maryam Jafroodi, Ramin Asadi, Abtin Heydarzadeh, Sepiedeh BesharatiDepartment of Hematology, Gulian University of Medical Sciences, Rasht, Guilan, IranBackground: Beta thalassemia major patients are vulnerable to transfusion-transmitted infection, especially hepatitis C virus (HCV, and iron overload. These comorbidities lead to cirrhosis and hepatocellular carcinoma in these patients. In order to prevent these complications, treatment of HCV infection and regular iron chelating seems to be necessary. The aim of this study was to evaluate the effect of hepatic iron concentration (HIC and viral factors on the sustained virological response (SVR in chronic HCV-infected patients, with beta thalassemia major being treated with interferon and ribavirin.Materials and methods: We enrolled 30 patients with thalassemia major and chronic HCV who were referred to the Hematology Clinic of Guilan University of Medical Sciences, between December 2002 and April 2006. HIC was measured by atomic absorption spectroscopy before treatment. The viral factors (viral load, genotype and HIC were compared between those who achieved a SVR and nonresponders.Results: Mean age of the 30 thalassemic patients, was 22.56 ± 4.28 years (14–30 years. Most patients were male (56.7%. Genotype 1a was seen in 24 (80% cases. SVR was achieved in 15 patients (50%. There were no significant correlations between HIC (P = 1.00, viral load (P = 0.414, HCV genotype (P = 0.068, and SVR. No difference was observed in viral load (P = 0.669 and HIC (P = 0.654 between responders and nonresponders.Conclusion: HIC, HCV viral load, and HCV genotype were not correlated with virological response, and it seems that there is no need to postpone antiviral treatment for more vigorous iron chelating therapy.Keywords: hepatitis C virus, hepatic iron concentration, combination therapy, thalassemia major, interferon alfa, ribavirin

Jafroodi M

2011-07-01

239

Evaluation of Endocrine Complications in Patients with Thalassemia Major  

Directory of Open Access Journals (Sweden)

Full Text Available Aim: Multiple blood transfusions in beta thalassemia patients causes iron overload in various tissues including endocrine glands thereby leading to multiple endocrine dysfunction. The aim of this study was to determine the endocrine complications seen in beta thalassemia patients followed-up in outpatient clinics of Pediatric Hematology Division of Uludag University Faculty of Medicine. Materials and Methods: The files of patients with thalassemia major followed-up in outpatient clinics of Pediatric Hematology Division of Uludag University Faculty of Medicine from January 1976 to August 2008 were retrospectively evaluated for endocrine disorders. All patients had a detailed physical examination including palpation of thyroid gland and pubertal staging. Endocrine evaluation was performed in the Division of Pediatric Endocrinology.Results: A total of 44 [20 female (45.5%; 24 male (54.5%; and mean chronological age 13.54±7.32 (2.75-35.2 years] patients were evaluated. The ratios of patients with endocrine dysfunction were 27.2 % and 90.9%, respectively, when we exclude or include those with osteoporosis/osteopenia or growth failure other than growth hormone deficiency. Of all patients, 27 (61.3% had osteoporosis, 17 (38.6% had growth retardation, 11 (25% had osteopenia, 6 (13.6% had hypogonadism, 3 (6.8% had hypothyroidism, 2 (4.5% had hypoparathyroidism, 1 (2.3 had growth hormone deficiency, and 1 (2.3 had type 1 diabetes mellitus. Mean ferritin levels and monthly transfusion numbers were 1976.15±1494.75 ng/ml and 1.46±0.34, respectively. There were no significant association between ferritin levels, monthly transfusion needs, and endocrine dysfunctions studied. Endocrine dysfunctions did not differ significantly amongst those having different chelating agents. The ratio of patients with growth retardations in 10 to 19-age-group was significantly higher than those in 0 to 9-age-group (30.6% vs 8.3%; p=0.049. Conclusion: Patients with thalassemia major are under increased risk of various endocrine dysfunction. Bone health is significantly compromised. Those younger than 10 years should be closely followed for especially growth retardation and osteoporosis/osteopenia and those who are 10 years of age or older should be followed for all endocrine pathologies, especially for hypogonadism, growth retardation, and osteoporosis. (Journal of Current Pediatrics 2008; 6: 58-65

Birol Baytan

2008-10-01

240

Investigation of liquid wax components of Egyptian jojoba seeds.  

Science.gov (United States)

Egyptian jojoba seeds newly cultivated in Ismailia desert in Egypt promoted us to determine its lipid components. Fatty alcohols, fatty acids, wax esters and sterols patterns were determined by capillary GLC whereas, tocopherols profile, isopropenoid alcohols and sterylglycosides were determined by HPLC. The Egyptian seeds are rich in wax esters (55 %) with fatty alcohols C20:1 and C22:1 as major components and amounted to 43.0 % and 45.6 % respectively followed by C24:1 and C18:1(9.6 % and 1.3 % respectively). The fatty acids profile showed that C20:1 is the major constituent (60 %) followed by C18:1 and C22:1 (14.5 and 11.8 % respectively) whereas C24:1 was present at low concentration amounted to 1.6 %. In addition, the Egyptian jojoba wax contained C18:2 fatty acid at a level of 8.7 %. Wax esters composition showed that the local wax had C42 and C40 esters as major components amounted to 51.1 and 30.1 % respectively. Also, it had C44 and C38 at reasonable amounts (10.0 and 6.3 % respectively). Whereas C36 and C46 were present at lower concentrations amounted to 1.4 and 1.1 respectively. The sterols analysis showed the presence of campe-, stigma-, beta-sito-, and isofuco- sterol amounting to 18.4 %, 6.9 %, 68.7 %, and 6.0 % respectively. The tocopherols pattern revealed that the local seed wax contained gamma-tocopherol as major constituent (79.2 %) followed by alpha-tocopherol (20.3 %). beta-tocopherol as well as delta-tocopherol were found as minor constituents. The isopropenoid alcohols and the sterylglycosides (free and acylated) were not detected. The wax is proposed to be used in oleo chemistry and cosmetics. PMID:19844068

El-Mallah, Mohammed Hassan; El-Shami, Safinaz Mohammed

2009-01-01

 
 
 
 
241

Cutaneous and mucosal manifestations in patients with beta major thalassemia  

Directory of Open Access Journals (Sweden)

Full Text Available Background and Aim: Thalassemia is one of the most common single gene disorder that results from decrease or absence of globulin chain(s synthesis. Repeated blood transfusion is required for prevention of severe anemia and related side effects, but it is associated with other complications such as cutaneous lesions and mucosal manifestations. This study conducted to assess the frequency of cutaneous and mucosal manifestations in patients with beta thalassemia.Methods: This cross-sectional study was conducted on 300 patients with beta major thalassemia in Zahedan. Data were obtained from medical records and questionnaires as well as through physical examination of patients. The data were statistically described and tested.Results: The mean age of patients was 17.9±6.3 years and 64.3% of patients were men and 35.7% were women. Among cutaneous lesions, freckles were the most common (70.7% and the rarest one was peri orbital pigmentation (0.3%. Gingivitis (41.7% and longitudinal lines on nails (72% were the most common mucosal and nail manifestations.Conclusion: Since cutaneous and mucosal manifestations are very common among patients with beta major thalassemia, regular dermatology follow up of these patients is recommended.

Majid Naderi

2013-03-01

242

Expression of therapeutic misconception amongst Egyptians: a qualitative pilot study  

Directory of Open Access Journals (Sweden)

Full Text Available Abstract Background Studies have shown that research participants fail to appreciate the difference between research and medical care, labeling such phenomenon as a "therapeutic misconception" (TM. Since research activity involving human participants is increasing in the Middle East, qualitative research investigating aspects of TM is warranted. Our objective was to assess for the existence of therapeutic misconception amongst Egyptians. Methods Study Tool: We developed a semi-structured interview guide to elicit the knowledge, attitudes, and perspectives of Egyptians regarding medical research. Setting: We recruited individuals from the outpatient settings (public and private at Ain Shams University in Cairo, Egypt. Analysis: Interviews were taped, transcribed, and translated. We analyzed the content of the transcribed text to identify the presence of a TM, defined in one of two ways: TM1 = inaccurate beliefs about how individualized care can be compromised by the procedures in the research and TM2 = inaccurate appraisal of benefit obtained from the research study. Results Our findings showed that a majority of participants (11/15 expressed inaccurate beliefs regarding the degree with which individualized care will be maintained in the research setting (TM1 and a smaller number of participants (5/15 manifested an unreasonable belief in the likelihood of benefits to be obtained from a research study (TM2. A total of 12 of the 15 participants were judged to have expressed a TM on either one of these bases. Conclusion The presence of TM is not uncommon amongst Egyptian individuals. We recommend further qualitative studies investigating aspects of TM involving a larger sample size distinguished by different types of illnesses and socio-economic variables, as well as those who have and have not participated in clinical research.

Silverman Henry J

2009-06-01

243

Egyptian and foreign cigarettes Pt. 2  

International Nuclear Information System (INIS)

The concentration of 27 elements was measured using neutron activation analysis in a cigarette brand commercially manufactured in Egypt and in three foreign brands available on the Egyptian market. The cigarette components examined were tobacco, wrapping paper and ash. All results are expressed in absolute values per cigarette. The concentration of Al, As, Ba, Br, Cl, Cs, Eu, Fe, Mn, Na, Ni, Rb, Sb, Sc, Sr, Th, Ti and V in the Egyptian cigarette were above the range determined for the foreign brands examined; however, Ce, Co, Cr, Hf, K, La, Mg, Se and Zn were within that range. Except for K, Mn, Ni and Ti, the above conclusions were the same for elements determined in the ash. The wrapping paper used for the Egyptian cigarette contains the lowest quantity of Cl and Mn. (author)

244

[Early Egyptian forerunners of the Paranatellonta?].  

Science.gov (United States)

The term "paranatellonta" is well-known in greek astrological literature. It designates stars either rising together with the sun or being in other conspicuous positions to it. Tentatively, a forerunner of this conception is identified in an egyptian depiction attested several times from the 13th century BC onwards. There, "gods" are depicted who are defined by their positions in regard to the sun-god. It seems possible to connect their positions with the typical meanings of the word paranatellonta. Some reflections on the contribution of Egypt to hellenistic astrology are added, including some references to the largely unpublished corpus of demotic egyptian astrological texts. PMID:10705808

Quack, J F

1999-01-01

245

Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies  

Science.gov (United States)

Anemia, Sickle Cell; Complex and Transfusion-dependent Hemoglobinopathies; Thalassemia; Alpha or Beta Thalassemia Major; Diamond-Blackfan Anemia; Bone Marrow Failure Syndromes Characterized by Severe Chronic Anemia

2014-08-13

246

Some endocrinal aspects of pancreas in beta thalassemia  

International Nuclear Information System (INIS)

The study was carried out to evaluate endocrinal aspects of the pancreas in thalassemia children, ages 5 - 10 years maintained under either regular or irregular iron chelation therapy. A matched control on healthy children, was included for comparison. As regards laboratory findings, fasting and post prandial blood sugar was significantly elevated in thalassemia children than the control and serum insulin was significantly lower in the irregular iron chelation group than both in the regular one and in the control group. Most cases of diabetic thalassemia children clinically and biochemically were of irregular iron chelation and with older age. They were frequently higher transfused. There is significant rise of serum ferritin in diabetic group than in diabetic thalassemia children. In conclusion, pancreatic dysfunction can be detected in thalassemia children, but regular iron chelation can reduce its occurrence. 10 tabs

247

Composition of Egyptian nerolì oil.  

Science.gov (United States)

The bitter orange flower oil (or neroli) is an essential product, largely used in perfumery. Neroli is obtained by hydrodistillation or steam distillation, from the flowers of bitter orange (Citrus aurantium L.). Since a long time neroli production is limited and its cost on the market is considerably high. The annual production in Tunisia and Morocco is ca. 1500 Kg, representing more than 90% of the worldwide production. A small amount ofneroli is also produced in Egypt, Spain and Comorros (not exceeding 150 kg totally). Due to the high cost, the producers and the users have tried to obtain less expensive products, with odor characters close to that of neroli oil to be used as substitute and sometimes as adulterants of the genuine oil. In this study are investigated five samples of Egyptian neroli oils produced in 2008 and 2009, in the same industrial plant, declared genuine by the producer. For all the samples the composition was determined by GC/FID and by GC/MS-LRI; the samples were also analyzed by esGC to determine the enantiomeric distribution of twelve volatiles and by GC-C-IRMS for the determination of the delta13C(VPDB) values of some mono and sesquiterpene hydrocarbons, alcohols and esters. The analytical procedures allowed to quantitatively determining 86 components. In particular the variation of the composition seems to be dependent on the period of production. In fact, the amount of linalool decreases from March to April while linalyl acetate presents an opposite trend, increasing in the same period. The RSD determined for the delta13C(VPDB) are very small (max. 3.89%), ensuring the authenticity of all samples. The results are also discussed in function of the limits provided by the European Pharmacopoeia (EP) (2004), AFNOR (1995) and ISO (2002) regulations for genuine neroli oils. PMID:21834247

Bonaccorsi, Ivana; Sciarrone, Danilo; Schipilliti, Luisa; Trozzi, Alessandra; Fakhry, Hussein A; Dugo, Giovanni

2011-07-01

248

Molecular updating of ?-thalassemia mutations in the Upper Egyptian population.  

Science.gov (United States)

We have updated the dataset of the molecular spectrum of the ?-thalassemia (?-thal) in Upper Egypt. Buccal swabs were analyzed from 94 unrelated patients with ?-thal major (?-TM) using reverse dot-blot and multiplex amplification refractory mutation system-polymerase chain reaction (ARMS-PCR). The most frequent mutation was IVS-I-110 (G>A) (57%). The IVS-I-110, IVS-I-6 (T>C) and IVS-I-1 (G>A) mutations accounted for 87% of the ?-thal anomalies. The codon 39 (C>T) and frameshift codon (FSC) 6 (-A) (GAG>-GG) mutations were only detected in Al-Minya and Qina, respectively. We did not observe the IVS-II-745 (C>G) or -101 (C>T) mutations. Forty-three percent of Upper Egyptians were homozygotes. Our efforts were an important step to complete the mutation map of ?-thal in Egypt restricted to Cairo and the Nile Delta regions. This study will help to develop preventative programs for Upper Egyptians. It addressed the genetic drift of the ?-thal gene mutations in Africa, Asia, and Europe. PMID:21077761

Jiffri, Essam H; Bogari, Neda; Zidan, Khaled H; Teama, Salwa; Elhawary, Nasser A

2010-01-01

249

Determinants of Egyptian Agricultural Exports: A Gravity Model Approach  

Directory of Open Access Journals (Sweden)

Full Text Available In this paper, a gravity model approach was employed to analyze the main factors influencing Egypt’s agricultural exports to its major trading partners for the period 1994 to 2008. Our findings are that a one percent increase in Egypt’s GDP results in roughly a 5.42 percent increase in Egypt’s agricultural export flows. In contrast, the increase in Egypt’s GDP per capita causes exports to decrease, which is attributed to the fact that an increase in economic growth, besides the increasing population, raises the demand per capita for all normal goods. Hence, domestic growth per se leads to reduced exports. The exchange volatility has a significant positive coefficient, indicating that depreciation in Egyptian Pound against the currencies of its partners stimulates agricultural exports. Transportation costs, proxied by distance, are found to have a negative influence on agricultural exports. These results are important for trade policy formulation to promote Egyptian agricultural exports to the world market.

Xuexi Huo

2010-11-01

250

Islam in Egyptian Education: Grades K-12  

Science.gov (United States)

This article explores the important role that the religion of Islam plays in the education of Egyptian children. The scrutiny under which the Islamic world finds itself in the after-math of September 11, 2001 has resulted in calls for educational reform, not only from the outside world, but also from the Muslim world itself. The author has a…

Neill, Charlotte M.

2006-01-01

251

A Syntactic Study of Egyptian Colloquial Arabic.  

Science.gov (United States)

This syntactic analysis of Egyptian colloquial Arabic is based on the author's dialect which he designates as educated Cairene. This study offers a phonological as well as morphological background for the grammar of this particular dialect. The basic syntactic approach used is immediate constituent analysis. String analysis and transformational…

Gamal-Eldin, Saad M.

252

Contributions of Egyptian Women in Physics (abstract)  

Science.gov (United States)

Physics is a dynamic, global field. Progress in research motivates scientists to explore new areas and find useful applications for their work. Femtosecond ultrashort pulsed lasers and progress in nanostructures to study the properties of extremely dense matter, as well as one-dimensional materials, are two examples of innovations that encourage students and scientists—male and female—to pursue physics. Young Egyptian women's contributions to physics grew from 46% in 2003 to 69% in 2008. This paper discusses the role of women in physics in Egypt; presents statistics regarding their contributions and presence at Egyptian universities and institutes; and gives information about their decision making leadership roles. Ideas, applicable in Egypt as well as in developing countries, to address problems facing women are raised.

El Nadi, Lotfia

2009-04-01

253

Chemical composition of Egyptian and UAE propolis.  

Science.gov (United States)

The chemical composition of propolis samples obtained from Behera, Egypt and Dubai, UAE, have been investigated by GC-MS and thirty four compounds have been tentatively identified. Some of these compounds have not been reported previously in Egyptian propolis from different regions. The Egyptian sample contains a high amount of aliphatic (13.7%) and aromatic (14.4%) acids. The alcohols, phenols and esters account for about 17.0% of the total content analysed. Some anthraquinone and flavone derivatives have also been detected (10%). The UAE sample is characterised by the presence of a high content of aliphatic acids (15.2%) and a low content of aromatic acids (4.3%). The aldehydes, alcohols, phenols and esters amount to about 9%. In addition to these some other compounds (high molecular weight alkanes, sugar derivatives, anthraquinone derivatives and flavone derivatives) are also present to the extent of about 33%. PMID:16632455

Said, Sobhi A; Khan, Saeed A; Ahmad, Iqbal; Ali, Hayam S

2006-01-01

254

Homer and Herodotus to Egyptian medicine.  

Science.gov (United States)

Egyptian medicine is the base of Greek medicine. Egyptian people and their medical knowledge are often mentioned in the Iliad and Odyssey of Homer (VIII sec. BCE). Many Greek doctors, such as Melampus, Asclepius as well as Hippocrates visited Egypt to study and understand medicine. This work intends to focus particularly on Homer, Herodotus and Plutarch's letters, where the importance of Egypt in religion, science and medicine is clear. Herodotus (484-420 BCE) in the second book of "The Histories" describes Egypt and the medical knowledge of its doctors. Plutarch (I-II sec CE) in "The virtues of Sparta" and "Life of Lycurgus", tells about an energy beverage, named nepenthe, made with drugs from Egypt. PMID:21657099

Rossi, Marco

2010-12-01

255

Conservation of a Rare Painted Ancient Egyptian Textile Object from the Egyptian Museum in Cairo  

Directory of Open Access Journals (Sweden)

Full Text Available This study describes conservation of a painted ancientEgyptian textile object from the collection of Osiris clothsin the Egyptian Museum in Cairo, Egypt. An evaluation ofthe reactivation consolidation technique to reinforcementof ancient Egyptian painted textiles was performed.Various investigation methods were carried out to identifythe fibres, paints, and other materials, which are part ofthe selected object. The condition of the object was alsoinvestigated. Newly prepared painted linen textile sampleswere artificially deteriorated to be used for evaluation ofthe suggested reactivation consolidation technique. Theaged textile samples were treated with three selectedadhesives in three different concentrations and the sampleswere evaluated. The results show that the tested consolidationtechnique is suitable to reinforce deterioratedlinen textiles. The evaluated consolidation technique issimple, effective and can be applied using simple tools thatare common to many conservation labs.

Yasin Zidan

2008-01-01

256

Bone Densitometric Analysis in Egyptian Hemodialysis Patients  

Digital Repository Infrastructure Vision for European Research (DRIVER)

End-stage renal failure (ESRF) is the ultimate consequence of chronic renal failure, and in such cases dialysis is generally required. Almost all dialysed patients have abnormal bone histology and lower values of glomerular filtration rate have been associated with lower bone mineral density (BMD) at all sites. The objective of the present study was to investigate the effect of hemodialysis (HD) on body-composition (BC), specially segmental and total BMD in Egyptian ESRF patients. Forty ESRF ...

Mohamed, Ehab I.; Khalil, Eman S. D.

2008-01-01

257

Impaired renal tubular function in pediatric patients with ?-thalassemia major  

Directory of Open Access Journals (Sweden)

Full Text Available Introduction: ?-thalassemia major due to ineffective erythrocyte life span leads to severe anemiarequiring regular transfusion, which it can lead to major organs damage. Renal damage can beattributed to chronic anemia, iron over load and or defferoxamin toxicity. The object of this study wasto analyze renal tubular and glomerular function in pediatric patients with beta-thalassemia major.Materials and Methods: 39 patients with ? -thalassemia major whose mean ages were 11.8 yr and22 sex and age matched healthy children as control group were studied. Blood rine samplesand uwereobtained for measuring biochemical markers. Urinary N-Acetyl-?.D.glucosaminidase (NAG andurine NAG to creatine ratio (U Cr /NAGratio were measuredResults: No significant differences were found between serum BUN, creatinine, and also creatinineclearance between both groups. Also there were no significant differences in urine osmolality betweenpatients and controls. Urine NAG was significantly higher in thalassemic patients than control group(p< 0.000. There was positive relation between urinary NAG and duration of illness(r = 0314,p<0.01. There was no significant relationship between urinary NAG and serum ferritin. Finally, nosignificant difference was found in GFR of both groups.Conclusion: Our study showed renal tubular function is impaired in in patients with ?-thalassemiamajor as indicated with increased urinary NAG. Further, we have found a positive relationshipbetween urinary NAG and duration of disease. Thus, in spite of normal GFR and other biochemicalmarker such as BUN and creatinine, increased urinary NAG may be as an early marker of renaldisease in patients with ?-thalassemia majo.

Mojgan Mazaheri

2009-02-01

258

Juvenile Idiopathic Arthritis, the Egyptian Experience  

Directory of Open Access Journals (Sweden)

Full Text Available To study the characteristics of Juvenile Rheumatoid Arthritis (JRA in the Egyptian population, comparing it to other populations. We retrospectively studied the charts of 196 Egyptian children with Juvenile Rheumatoid Arthritis (JRA, who fulfilled the ILAR (International League Association for Rheumatology classification of JIA and were followed up between 1990 and 2006 in the Children’s Hospital, Cairo University. Their clinical features and laboratory data were collected and statistically analyzed. The male to female ratio was 1:1.09 and the mean age of disease onset was 6.257 ±3.41 years. The mode of onset was oligoarticular in 41.3%, polyarticular in 34.7% and systemic in 24%. Chronic uveitis was found in 5.6% of the children. Antinuclear antibody (ANA status was determined in all patients and was positive in 21.7%. Amyloidosis was present in 1.76% of patients. The spectrum of clinical presentation of the disease in Egyptian children shows both some similarities and some differences from other populations, with oligo and polyarticular onset subtypes being commonest. The cause of these differences may be due, in part, to ethnic and environmental factors. Referral bias may be another cause.

S. Salah

2009-01-01

259

Enhancement of Nuclear Security Measures: Egyptian Case  

International Nuclear Information System (INIS)

Egypt benefited from the peaceful uses of nuclear energy since the second half of twentieth century and established several nuclear and radiation facilities, activities and practices such as research reactors, fuel fabrication facility, gamma irradiators, and utilization of radioactive sources in different applications. Consequently, Egypt’s concern is to enhance and improve the nuclear security systems in the above mentioned facilities, activities and practices as well as enhance the nuclear security regime on the national, regional and international levels. In this paper, several steps taken by Egypt in the field of nuclear security in its various aspects such as the legal and regulatory frameworks, physical protection of nuclear material and facilities, nuclear material accounting and security of radioactive sources will be presented. Egyptian human resources development strategy for the purpose of improving the efficiency, building, upgrading and strengthening the knowledge and skills of the personnel who are working in the nuclear and radiological fields as well as other activities that related to nuclear security will also be discussed. The Egyptian nuclear security strategy is under development taking in its consideration the present nuclear security measures and the future perspective to develop and improve the Egyptian nuclear security infrastructure. (author)

260

A new look at old bread: ancient Egyptian baking  

Directory of Open Access Journals (Sweden)

Full Text Available Despite abundant archaeological, pictorial and textual evidence of ancient Egyptian life and death, we have little detailed information about the staple diet of most of the population. Now experimental work by a postdoctoral Wellcome Research Fellow in Bioarchaeology at the Institute is revealing how the ancient Egyptians made their daily bread.

Delwen Samuel

1999-11-01

 
 
 
 
261

Serological study on parvovirus B19 infection in multitransfused thalassemia major patients and its transmission through donor units  

Directory of Open Access Journals (Sweden)

Full Text Available Background: Human parvovirus B19 (B19 virus is a newly recognized agent for transfusion transmitted diseases. Beta-thalassemia major patients receive a hypertransfusion regimen, hence, are prone to acquire B19 infection; moreover, B19 escapes viral inactivation methods and donor units are not tested for B19, but there are just a couple of studies globally and none from the Asian continent. Hence, a study was designed to find the frequency of B19 infection and its transmission in multitransfused thalassemia patients. Materials and Methods: Ninety multitransfused beta-thalassemia major (thalassemia patients, 32 controls (age, sex matched without any history of transfusion were enrolled. Besides the donor units were tested in B19 un-infected patients. B19 specific IgG and IgM antibodies in the sera were analyzed by ELISA (in-house, using B19 VPI and VP2 recombinant and purified antigens; additionally HBsAg and anti-HIV and anti-HCV antibodies were tested for coexisting infections. Results: Seventy-three (81% thalassemia patients tested positive for anti-B19 IgG antibodies as compared to seven (21% in the controls group (P < 0.01, while anti-B19 IgM antibodies were detected in 37 (41.1% compared to two (6.2% in the controls (P < 0.01. Mean age of the thalassemia patient was eight years (range 2 - 18 years and B19 infection was highest in the six-to-ten year range. Seropositivity increased with the number of transfusions. Two of the four HBsAg positive and five of the seven anti-HCV IgM antibody-positive patients also had anti-B19 IgM. After a six-month follow-up, four (25% of the 16 seronegative patients seroconverted and anti-B19 IgM antibodies were detected in their donor units. Conclusions: Most of multitransfused thalassemics were B19 seropositive or had anti-B19 IgM; in the remaining uninfected group, B19 got transmitted through infected / IgM-positive donor units.

Kishore Janak

2011-01-01

262

Infrared absorption spectra of Egyptian Serpentine Rock  

International Nuclear Information System (INIS)

Infrared absorption spectra of natural egyptian serpentine rock were recorded in the frequency range 200-4000 cm-1, and through the temperature range 200-1000 degree C for 2 hours. The chemical bonds within the lattice structure of serpentine are interpenetrated quantitatively. From the intensities and frequencies shift op the characteristic infrared bands spectra, through heat treatment, we can detect the first endothermic reaction due to the loss of hydroxyl bonds up to 700 degree C, and recrystallization for forsterite refractory at 800 degree C, with the characteristics infrared bands at 506-521 cm-1 of Si-O bending vibrations, at 880-888 cm-1 of Si O-Al vibrations, and at 1000-1075 cm-1 of Si-O stretching vibrations. The infrared bands at 350-398 cm-1 (Si-O bend), and 400-448 cm-1 (Si-O-Mg) are sensitive to follow the phase transformation through heat treatment. Where Egyptian serpentine rock of chemical composition Mg6(Si4 O10) (OH8), or Mg3(Si2 O5)(OH4) or 3 Mg O.2 Si O2.2 H2 O magnesium hydrositicate, trioctahedral 1:1 family layer lattice silicate still with its lattice structure till 700 degree C. endothermic reaction due to the deformation of hydroxyl bonds, and then formation of forsterite of chemical composition 2 Mg O.Si O2 from 800 degree C, and the infrared absorption spectra of egyptian serpentine detect a minor quantities of A12 O3 and this phase of tine is Antigorite Mg3(Si2 O5)(OH)4 trioctahedral 1:1 family and high purest related to its standard. Most of the intensities of the characteristics infrared bands spectra are decreased as temperature increases up to 1000 degree C. 2 figs.,2 tabs

263

SURGICAL PROCEDURES DURING ANCIENT EGYPTIAN MUMMIFICATION  

Directory of Open Access Journals (Sweden)

Full Text Available The authors attempted to replicate Egyptian mummification with a human cadaver. In a previous paper, the authors reported their findings on the use of natron in ancient mummification. This paper discusses the surgical procedures used in evisceration during mummificationLos autores intentaron replicar el sistema de momificación egipcia en un cadáver humano actual y en un trabajo anterior, los autores publicaron sus resultados sobre el uso de natron en la momificación antigua. Este informe presenta los procedimientos quirúrgicos utilizados durante el proceso de momificación

Bob Brier

2001-01-01

264

Electrical properties of Egyptian natural graphite  

International Nuclear Information System (INIS)

The electrical properties of Egyptian natural graphite flakes, obtained from the graphite schists of Wadi Bent, Eastern Desert, were measured. The flakes were ground and compressed into pellets. The standard four probe dc method was used to measure the temperature dependence of the electric resistivity from room temperature down to 12 K. The transverse and longitudinal magnetoresistance were measured in the low magnetic field range at temperatures 300 K, 77 K and 12 K. The transverse magnetoresistance data was used to estimate the average mobility, assuming a simple two-band model. (author). 20 refs, 4 figs, 1 tab

265

German-Egyptian seminar on environmental research  

International Nuclear Information System (INIS)

Industrial development and scientific advancement have opened new frontiers of interest and challenges. Anthropogenic activities are increasingly upsetting the natural environmental balance and are at the same time shifting from local impact to global importance. Science is confronted with the challenge to answer the question of what are the consequences of anthropogenic changes to the environment and to help politics formulate countermeasures for the sake of a sustainable future. Protect results achieved within the Egyptian-German cooperation were presented to the scientific community and to the interested public and discussions on future lines of actions took place. (orig./KW)

266

Antibacterial activity of selected Egyptian ethnomedicinal plants  

Directory of Open Access Journals (Sweden)

Full Text Available Aims: Medicinal plants have recently received the attention of the antimicrobial activity of plants and their metabolites due to the challenge of growing incidences of drug-resistant pathogens. The aims of this study were to determine the antibacterial activities of plant extracts used as ethnomedicinal in Egypt. Methodology and Results: Investigations were carried out to assess the antibacterial efficiency of 11 plant extracts used as ethnopharmacological among Egyptian native people against infectious diseases. Crude methanol, ethanol,chloroform, hexane, acetone and aqueous extract of plants were tested for antibacterial activity in vitro against ten bacterial isolates using the disc diffusion method test. Discs were impregnated with 2 mg/mL of different solvent extracts. Among all the crude extracts, the methanol extract showed the highest activity than other extracts. P. harmala and S. officinalis exhibited highest antibacterial activity against gram positive and negative bacteria while the remainingplants extracts showed less activity. All the plant extracts showed no significant effect against the Bordetella bronchisepta ATCC 4617 except the extracts of M. fragrans and L. sativum. E. coli is the most sensitive microorganism tested, with the lowest MIC value (0.5 mg/mL in the presence of the plant extract of P. harmala and S. officinalis.Conclusion, significance and impact of study: Results obtained herein, may suggest that the ethnomedicinal Egyptian plants possess antimicrobial activity and therefore, they can be used in biotechnological fields as natural preservative ingredients in food and/or pharmaceutical industry.

Mashait, M.

2013-01-01

267

The Petrie Museum of Egyptian Archaeology  

Science.gov (United States)

The history of the Petrie Museum of Egyptian Archaeology at University College London involves several notable figures of 19th century Britain, and is worth recounting briefly. The Museum was created through the largesse of one Amelia Edwards, a nineteenth century Englishwoman who have developed a great respect and reverence for Egyptian antiquity, and who herself made several extended visits to Egypt. After Ms. Edwards' sizeable gift in 1892, Professor William Flinders Petrie (who was appointed through the bequest made by Ms. Edwards) continued his ambitious program of excavations, thereby growing the collection to one of international stature. Visitors to the site will want to start by viewing personal favorites from the collection offered by the various curators at the museum and by searching the online catalog of its holdings. If visitors are so inclined, they may browse through the categories (such as tools and weapons and buildings and furniture). Within each category, visitors may continue to find out detailed information about each object, and they may also view each object from a number of angles and rotations. Finally, visitors may participate in a brief online poll and learn more about visiting the museum in London, if they so desire.

268

Physicochemical and radiological studies on some egyptian aquatic areas  

International Nuclear Information System (INIS)

For the purpose of estimating the radiological health and safety to the Egyptian population arises from the natural background involved with coastal areas, it is necessary to make a comprehensive study to investigate the natural radionuclides activities in this environmental ecology. The locations of such areas were chosen from those in which people spend some time (e.g. the Mediterranean and Red Sea beaches, Suez Canal in addition to the River Nile Ismailia Canal and Quaroun Lake). Water and soil samples were brought from these locations and subjected to intensive physical, chemical analysis and radiological investigations. The densities of the collected soil samples were found to fall in the region of clay densities (2.30 - 2.70 g/cm 3 ). The particle size distribution analysis, of these soil samples showed values ranging from 128 ? m to 1303 ? according to sample site. The collected samples are mainly silicates with variable amounts of the major cations; Ca++, Mg++, Na+, K+ with some other trace elements. For the radiological investigations 238U, 226Ra, 232Th and 40K activity concentrations were resolved by spectroscopy technique. The majority of samples examined in this work showed variable activities of the naturally occurring radionuclides with fairly low levels compared with literature values reported in other countries. The analysis and discussions of the obtained data are thoroughly performed with the use of equations to estimate the radiation doses

269

Nitrogenase Activity of Pseudomonas corrugata Isolated from Egyptian Lettuce  

Directory of Open Access Journals (Sweden)

Full Text Available In the present study an isolate capable of root colonization of Egyptian Lettuce was isolated from the roots after selective enrichment. The isolated strain was identified as Pseudomonas corrugata by using Biochemical and Biolog identification system. The isolate has been found to be positive for nitrogenase activity. This root-colonized bacterium has not been previously isolated from Egyptian Lettuce and could be used as a bio-fertilizer.

Emad A. Abada

2006-01-01

270

Connecting Philosophy of Ancient Egyptians to Modern Thinking  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Problem statement: Associating any knowledge from ancient Egyptians to modern civilization and thinking was important and had its own value. The process of understanding knowledge related to ancient Egyptians is actually based on the nature of philosophical thought. Approach: In the discussion of ancient Egypt philosophy, it is important to look at it from the perspectives of the four branches of philosophy; metaphysics, epistemology, axiology and logic. Metaphysics has two elem...

Aminuddin Hassan; Anuar, Nurul A. A. K.; Abiddin, Norhasni Z.

2012-01-01

271

Did the ancient egyptians discover Algol?  

Science.gov (United States)

Fabritius discovered the first variable star, Mira, in 1596. Holwarda determined the 11 months period of Mira in 1638. Montanari discovered the next variable star, Algol, in 1669. Its period, 2.867 days, was determined by Goodricke (178). Algol was associated with demon-like creatures, "Gorgon" in ancient Greek and "ghoul" in ancient Arab mythology. This indicates that its variability was discovered much before 1669 (Wilk 1996), but this mythological evidence is ambiguous (Davis 1975). For thousands of years, the Ancient Egyptian Scribes (AES) observed stars for timekeeping in a region, where there are nearly 300 clear nights a year. We discovered a significant periodicity of 2.850 days in their calendar for lucky and unlucky days dated to 1224 BC, "the Cairo Calendar". Several astrophysical and astronomical tests supported our conclusion that this was the period of Algol three millennia ago. The "ghoulish habits" of Algol could explain this 0.017 days period increase (Battersby 2012).

Jetsu, L.; Porceddu, S.; Porceddu, S.; Lyytinen, J.; Kajatkari, P.; Markkanen, T.; Toivari-Viitala, J.

2013-02-01

272

Higher Education Externalities in Egyptian Labor Markets  

Directory of Open Access Journals (Sweden)

Full Text Available Augmenting a Mincerian earnings function with governorate level data, this paper estimated the external return to higher education for individuals in Egypt in 2010. The results suggested that these externalities are negative and exist only for female workers, while for males these externalities were again negative but statistically insignificant. A unit increase in governorate average higher education is associated with a 68% decrease in females’ hourly wage. This could be explained by the fact that education degrees are simply used as a device to signal higher ability without raising productivity. Another reason could be excess supply of higher education graduates in the Egyptian labor market. These results have been tested through a number of robustness checks. Results survived to the introduction of individual and governorate level variables; it is not due to imperfect substitutability across workers; it still holds when treating local human capital as endogenous variable and instrumented it.

Hanan Nazier

2013-03-01

273

Attitude of Egyptian consumer towards irradiated food  

International Nuclear Information System (INIS)

This study aims at the evaluation of the opinion and attitude of the consumer as to what extent they accept or refuse food preservation by radiation. Also detect the method that can attract the consumers to adopt the technique and ensure the success handling of irradiated in egyptian market. One thousand and twenty two poll sheets were collected. The questionnaire was supported with simplified information about the use of atomic energy and radiation for peaceful purpose. From the results, 62.43% of the total sample size accepted the radiation technology persons that were convinced with the advantage of using irradiated food reached 70.45% . As to keep on being applied of the technology 73.97% of the total sample size agreed persons said yes to irradiated food for consumption if it is made available in the market were 57.53%

274

Radon Progeny in Egyptian Underground Phosphate Mines  

Energy Technology Data Exchange (ETDEWEB)

In addition to the workers in uranium mines, the staff of other underground mines, such as workers in underground phosphate mines, can be exposed to {sup 222}Rn and its progeny. In this study the individual radon progeny concentrations were measured in three Egyptian underground phosphate mines to estimate the occupational exposure of the workers at those sites. A filter method was used to measure individual radon progeny concentrations ({sup 218}Po, {sup 214}Pb and {sup 214}Po). The reported mean values of radon progeny concentrations exceed the action levels which are recommended by ICRP 65 (1993). Based on the measured individual radon progeny concentrations ({sup 218}Po, {sup 214}Pb and {sup 214}Po) in these mines, the annual effective dose for the workers has been calculated using the lung dose model of ICRP 66 (1994). According to the obtained results, some countermeasures were recommended in this study to minimise these exposure levels. (author)

El-Hady, M.A.; Mohammed, A.; El-Hussein, A.; Ali, A.E.; Ahmed, A.A

2001-07-01

275

Upgrading the Egyptian Scanning Land mine Detectors  

International Nuclear Information System (INIS)

This article presents and discusses the upgrading processes which were performed to increase the detection capability of the Egyptian Scanning Land mine Detectors, ESCALAD system. The upgrading processes include different designs which were made to mount the detectors tray. These arrangements aim to overcome the effect of the soil surface roughness and stand off distance on the scanning capability. Also a more stable and reliable PCI data acquisition board with fast Digital I/O up to 125 M/s was used. Moreover, data acquisition software which uses different algorithms for background subtraction and 2D-image filtration was build and developed. The software was build using Qt-cross-platform application and other Linux based packages. Examples of images constructed from experimental measurements using the upgraded and modified software are given and discussed. The obtained displayed images show more developed improvements and reliability.

276

Radon Progeny in Egyptian Underground Phosphate Mines  

International Nuclear Information System (INIS)

In addition to the workers in uranium mines, the staff of other underground mines, such as workers in underground phosphate mines, can be exposed to 222Rn and its progeny. In this study the individual radon progeny concentrations were measured in three Egyptian underground phosphate mines to estimate the occupational exposure of the workers at those sites. A filter method was used to measure individual radon progeny concentrations (218Po, 214Pb and 214Po). The reported mean values of radon progeny concentrations exceed the action levels which are recommended by ICRP 65 (1993). Based on the measured individual radon progeny concentrations (218Po, 214Pb and 214Po) in these mines, the annual effective dose for the workers has been calculated using the lung dose model of ICRP 66 (1994). According to the obtained results, some countermeasures were recommended in this study to minimise these exposure levels. (author)

277

Chronic neutrophilic leukaemia: an Egyptian case  

Science.gov (United States)

Chronic neutrophilic leukaemia (CNL) is a rare myeloproliferative disorder of elderly patients characterised by sustained neutrophilia. The diagnosis of CNL requires the exclusion of BCR/ABL positive chronic myelogenous leukaemia and leukemoid reaction. We present here a case of a 61-year-old Egyptian man with CNL and 21 months of follow-up. The main symptom of our patient was purpura. Splenomegaly, hepatomegaly and lymph node enlargement were not detected at presentation or throughout the patient’s course. Thrombocytopenia was a considerable problem in our patient, causing recurrent bleeding and affecting the hydroxyurea dose adjustment. While hydroxyurea decreased the total leucocytic count, it could not affect the fatal course of the disease. The survival course of our patient extended to 21 months after presentation. The cause of death was attributed to disease progression. PMID:21701572

Elbahrawy, Ashraf; Hamdy, Mahmoud; Morsy, Mohamed Hanafy; Ragab, Ramadan

2009-01-01

278

Examination of an Egyptian mummy - stereolithography applied  

International Nuclear Information System (INIS)

This paper describes the techniques of three dimensional imaging and stereolithography based on serial CAT-scans applied to the examination of the skull of an Egyptian mummy. Both the three dimensional image and the polymeric cast of the mummy skull presented finer details. It was confirmed that the subject was a male, approximately 30 - 35 years old. Fracturing of the ethmoid bone, e=sequelae to the removal of the brain, was observed in both types of presentations. Apart from this and signs of parodontitis, no pathology was observed. Stereolithography is a most powerful, non-destructive approach to the study of mummies. It might solve some of the problems of reburials, and further be of value in forensic medicine and paleo-ontology. (authors)

279

Zoonotic Chicken Toxoplasmosis in Some Egyptians Governorates  

Directory of Open Access Journals (Sweden)

Full Text Available Toxoplasmosis is one of the most common diseases prevalent in the world, caused by a coccidian parasite Toxoplasma gondii which infects humans, animals and birds. Poultry consider reliable human source of food in addition it is considered an intermediate host in transmission of the disease to humans. Trails of isolation of local T. gondii chicken strain through bioassay of the suspected infected chicken tissues in mice was carried out and the isolated strain was confirmed as being T. gondii using Polymerase Chain Reaction (PCR. Seroprevalence of antibodies against T. gondii in chicken sera in six Egyptian governorates were conducted by enzyme linked immune-sorbent assay (ELISA using the isolated chicken strain antigen. Moreover, comparison between the prevalence rates in different regions of the Egyptian governorates were been estimated. Isolation of local T. gondii chicken strain was accomplished from chicken tissues and confirmed by PCR technique. The total prevalence rate was 68.8% comprised of 59.5, 82.3, 67.1, 62.2, 75 and 50% in El Sharkia, El Gharbia, Kafr El sheikh, Cairo, Quena and Sohag governorates, respectively. The prevalence rates were higher among Free Range (FR (69.5% than commercial farm Chickens (C (68.5%; while, the prevalence rate was less in Upper Egypt than Lower Egypt governorates and Cairo. This study is the first was used antigen from locally isolated T. gondii chicken strain for the diagnosis of chicken toxoplasmosis. The higher seroprevalence particularly in free range chickens (house-reared refers to the public health importance of chickens as source of zoonotic toxoplasmosis to human.

Ehab Kotb El-Mahllawy

2012-01-01

280

Enhancement of the folate content in Egyptian pita bread  

Directory of Open Access Journals (Sweden)

Full Text Available Introduction: Egypt has a high incidence of neural tube defects related to folate deficiency. One major food source for folate is pita (baladi bread, which is consumed daily. Bioprocessing (e.g. germination has been reported to increase the folate content in cereals. The aim was to produce pita bread with increased folate content using germinated wheat flour (GWF.Methods: Prior to milling the effects of germination and drying conditions on folate content in wheat grains were studied. Pita bread was baked from wheat flour substituted with different levels of GWF. The folate content in dough and bread and rheological properties of dough were determined.Results: Germination of wheat grains resulted in, depending on temperature, 3- to 4-fold higher folate content with a maximum of 61 µg/100 g DM (dry matter. The folate content in both flour and bread increased 1.5 to 4-fold depending on the level of flour replacement with GWF. Pita bread baked with 50% sieved GWF was acceptable with respect to colour and layer separation, and had a folate content of 50 µg/100 g DM compared with 30 µg/100 g DM in conventional pita bread (0% GWF.Conclusion: Using 50% GWF, pita bread with increased folate content, acceptable for the Egyptian consumer, was produced. Consumption of this bread would increase the average daily folate intake by 75 µg.

Cornelia M. Witthöft

2012-04-01

 
 
 
 
281

Colorectal cancer in Egyptian patients under 40 years of age.  

Science.gov (United States)

Although colorectal cancer is not a common cancer in Egypt, the age distribution of the disease shows that a high proportion occurs in children and adults under 40 years of age. We reviewed the records of 1,608 colorectal cancer patients treated in 4 cancer hospitals in Egypt during a period of 3 to 10 years. The hospitals in which about 85% of all colorectal cancer cases in Egypt were seen included Egypt's 2 major cancer centers, The National Cancer Institute (NCI) in Cairo and Tanta Cancer Center (TCC) in the mid-Nile Delta region, and 2 major university hospitals, Assiut University in South Egypt and Ain Shams University in Cairo. Our review showed that patients younger than 40 years represented 35.6% of all patients in the 4 cancer hospitals, and that these rates were similar among the hospitals and for the years reviewed. The male-to-female ratio increased from 1.0 to 1.7 for the age groups ranging from 0-9 and 30-39 years, and increased from 1.0 to 1.5 for the age groups ranging from 40-49 to over 60 years. More than half of all the patients had rectal tumors, and about 90% of the cancers were adenocarcinomas; 30.6% of patients younger than 40 years, compared with 13.8% of older patients, had mucin-producing tumors. This study confirmed the occurrence of a high colorectal cancer rate in young Egyptians, and it opens the door to future epidemiologic studies to identify causes and risk factors of this disease pattern in Egypt. PMID:9096661

Soliman, A S; Bondy, M L; Levin, B; Hamza, M R; Ismail, K; Ismail, S; Hammam, H M; el-Hattab, O H; Kamal, S M; Soliman, A G; Dorgham, L A; McPherson, R S; Beasley, R P

1997-03-28

282

CHEMICAL DETERIORATION OF EGYPTIAN LIMESTONE AFFECTED BY SALINE WATER  

Directory of Open Access Journals (Sweden)

Full Text Available Salt forms are aggressive deterioration problems, which occur on all stone surfaces, mortars and renderings through saline solutions transferred to the stone pores. Deterioration of Egyptian limestone is primarily due to water-soluble salts. The formation of these salts on calcareous stone is the most important chemical reaction involving saline water to cause stone degradation. The study explains the different deterioration phenomena and alteration mechanisms that lead to the formation of salt crusts on archaeological limestone surfaces. A simulation laboratory conditions has been created to correspond to the aggressive deterioration environments dominating in most archaeological sites in Egypt. Different scientific instruments such as EDX attached with SEM, XRD, AAS, and ISE have been used to study and evaluate the chemical and mineralogical components of salt crusts and to assess the major ions accumulated within the stone pores. The results show that there are aggressive forms of salt affecting the weathered samples; especially those subjected to Na2SO4 followed by samples exposed to 1:1 NaCl and Na2SO4. The high level of Cl- and SO4-- concentrations found on the decayed stone surfaces gives an accurate evidence of salt migration. The degradation phenomena resulted from salty decay actions has occurred directly through complex mechanisms depending on certain specific factors. These factors such as mineralogical composition of stones, major deterioration factors responsible for the natural variety in stone reactivity and adsorption of some salty ions as Cl- and SO4--. Thereafter production of gypsum, halite and other species of salty crusts, in addition to the dominated environmental conditions.

Mohammed EL-GOHARY

2011-03-01

283

Social media in the 2011 Egyptian uprising.  

Science.gov (United States)

This paper uses Gallup poll data to assess two narratives that have crystallized around the 2011 Egyptian uprising: (1) New electronic communications media constituted an important and independent cause of the protests in so far as they enhanced the capacity of demonstrators to extend protest networks, express outrage, organize events, and warn comrades of real-time threats. (2) Net of other factors, new electronic communications media played a relatively minor role in the uprising because they are low-cost, low-risk means of involvement that attract many sympathetic onlookers who are not prepared to engage in high-risk activism. Examining the independent effects of a host of factors associated with high-risk movement activism, the paper concludes that using some new electronic communications media was associated with being a demonstrator. However, grievances, structural availability, and network connections were more important than was the use of new electronic communications media in distinguishing demonstrators from sympathetic onlookers. Thus, although both narratives have some validity, they must both be qualified. PMID:24798232

Brym, Robert; Godbout, Melissa; Hoffbauer, Andreas; Menard, Gabe; Zhang, Tony Huiquan

2014-06-01

284

Modular categories, integrality and Egyptian fractions  

CERN Document Server

It is a well-known result of Etingof, Nikshych and Ostrik that there are finitely many inequivalent integral modular categories of any fixed rank $n$. This follows from a double-exponential bound on the maximal denominator in an Egyptian fraction representation of $1$. A na\\"ive computer search approach to the classification of rank $n$ integral modular categories using this bound quickly overwhelms the computer's memory (for $n\\geq 7$). We use a modified strategy: find general conditions on modular categories that imply integrality and study the classification problem in these limited settings. The first such condition is that the order of the twist matrix is $2,3,4$ or $6$ and we obtain a fairly complete description of these classes of modular categories. The second condition is that the unit object is the only simple non-self-dual object, which is equivalent to odd-dimensionality. In this case we obtain a (linear) improvement on the bounds and employ number-theoretic techniques to obtain a classification f...

Bruillard, Paul

2010-01-01

285

Chlorpyrifos exposures in Egyptian cotton field workers.  

Science.gov (United States)

Neurobehavioral deficits have been reported in Egyptian pesticide application teams using organophosphorus (OP) pesticides, but whether these effects are related to OP pesticide exposures has yet to be established. In preparation for a comprehensive study of the relationship between OP pesticide dose and neurobehavioral deficits, we assessed exposure within this population. We conducted occupational surveys and workplace observations, and collected air, dermal patch and biological samples from applicators, technicians and engineers involved in chlorpyrifos applications during cotton production to test the hypotheses that: (1) dermal exposure was an important contributor to internal dose and varied across body regions; and (2) substantial differences would be seen across the three job categories. Applicators were substantially younger and had shorter exposure histories than did technicians and engineers. Applicators and technicians were observed to have relatively high levels of skin or clothing contact with pesticide-treated foliage as they walked through the fields. Both dermal patch loadings of chlorpyrifos and measurements of a chlorpyrifos-specific metabolite (TCPy) in urine confirmed substantial exposure to and skin absorption of chlorpyrifos that varied according to job category; and dermal patch loading was significantly higher on the thighs than on the forearms. These findings support our hypotheses and support the need for research to examine neurobehavioral performance and exposures in this population. More importantly, the exposures reported here are sufficiently high to recommend urgent changes in work practices amongst these workers. PMID:20193710

Farahat, Fayssal M; Fenske, Richard A; Olson, James R; Galvin, Kit; Bonner, Matthew R; Rohlman, Diane S; Farahat, Taghreed M; Lein, Pamela J; Anger, W Kent

2010-06-01

286

Bir Umm Fawakhir: Insights into ancient Egyptian mining  

Science.gov (United States)

Archaeological surveys at the site of Bir Umm Fawakhir in the central Eastern Desert of Egypt have clarified its role as a 5th-6th century gold-mining town. To date, 152 out of an estimated 216 buildings in the main settlement have been mapped in detail, eight outlying clusters of ruins have been identified, and four ancient mines have been inspected. In conjunction with Diodorus Siculus' first century b.c. account of Egyptian gold mining, the recent archaeological discoveries permit new insights into ancient Egyptian mining towns and techniques. Some evidence of activity at Bir Umm Fawakhir in earlier Roman, Ptolemaic, and pharaonic times has also been found.

Meyer, Carol

1997-03-01

287

Malignant tumors in an ancient Egyptian population.  

Science.gov (United States)

Since it is still an open debate whether malignant tumors are mainly influenced by environmental factors, the frequency of such malignant tumors in historic populations with different living conditions is of particular interest. In the present study, we investigated the occurrence of malignant tumors affecting bone tissue in a population of mumrnies and skeletons, which had been excavated from the large necropolis of Thebes-West, Upper Egypt. Our study material comprised a series of at least 415 individuals (thereof 325 adults) dating from approx. 1500-500 B.C. All individuals had been mummified, but were severely damaged and partially broken by grave robbers, so that often only parts of the mummies/skeletons were available for investigation. The available specimens were subjected to careful macroscopic examination, while isolated findings were radiologically analyzed. Using this approach, we identified at least 4 cases showing malignant tumors affecting the skeleton. In two cases, multiple mixed osteolytic-osteoblastic lesions suggested multiple metastases from carcinomas. Two further individuals presented with multiple osteolyses (vertebra, pelvis, skull) most suggestive of multiple myeloma. The observation of at least 4 cases of malignant tumors with osseous manifestation in a series of 325 adult individuals provides clear evidence that malignant tumors were not a rare event in the ancient Egyptian study population, particularly when the limitations of a study of tumors manifested only in osseous remnants are taken into consideration. A calculation of the age- and sex-adjusted tumor frequency in our material in comparison with a recent model for such a material by Waldron (1996) indicates that the rate of malignant tumors with bone affection in our series is higher than in an English population from 1901-1905, although lower than in a comparable present day population. This clearly indicates that important factors affecting malignant tumors were effective even in historic populations. PMID:10628386

Zink, A; Rohrbach, H; Szeimies, U; Hagedorn, H G; Haas, C J; Weyss, C; Bachmeier, B; Nerlich, A G

1999-01-01

288

Genetic Mutation in Thrombophilic Egyptian Patients  

Directory of Open Access Journals (Sweden)

Full Text Available Factor V Leiden and the prevalence of PAI-1 promoter 4G/5G polymorphism were examined in 48 Egyptian patients who presented with deep venous thrombosis. They were investigated for the presence of APCR, where positive cases were further subjected to DNA analysis by PCR for detection of factor V Leiden mutation. PAI-1 polymorphism was also studied in patients and 40 healthy individuals matching in age and sex as controls by PCR-RFLP to demonstrate the influence of 4G/5G dimorphism of the PAI-1 promoter gene on thrombotic risk. Present results revealed the presence of APCR in 14/48 (29.2% cases out of the whole thrombotic cases by DNA analysis, only 10/14 (71.4% were found carrying the mutant factor V gene (p<0.05. No synergistic effect was observed between the 2 polymorphisms when analyzed together. There was an association between the 4G allele of the PAI-1 gene and the risk of thromboembolism in patients suffering from DVT compared with healthy control (41.7% vs. 20%; p = 0.04, OR 2.85; 95% CI 1.089-7.493. The prevalence of 5G homozygous carriers was significantly lower in patients than in controls (12.5% vs. 40%; p = 0.006, OR 0.214, 95% CI 0.074-0.621. In conclusion, APCR as a result of factor V Leiden is the most commonly recognized inherited risk factor for thromboembolism. In patients with deep vein thrombosis the 4G polymorphism of PAI-1 gene promoter should be taken into consideration as a facilitating condition for pathological fibrinolysis together with other environmental and genetic factors.

Nehal Salah Hasan

2006-01-01

289

Association of factor V Leiden mutation with deep vein thrombosis among Egyptian cases  

Directory of Open Access Journals (Sweden)

Full Text Available Background: Deep vein thrombosis (DVT is a blood clot in a major vein, usually in the legs and/or pelvis. If part of the thrombus breaks off, it becomes an embolism, which can travel through the heart and block the arteries to the lungs. Factor V Leiden (FVL is a common genetic risk factor for hereditary hypercoagulability disorder in several populations. The present study investigates the association of FVL mutation with DVT among Egyptian cases. Patients & methods: The study included 44 cases (16 males and 28 females with an age range of 20 to 80 years in addition to 211 healthy unrelated controls of matched age and sex. A multiplex allele-specific PCR amplification was conducted for assignment of FVL gene mutation (G1691A. Results: Cases having the mutant allele A (AA and AG genotypes were significantly higher than controls (38.6% vs. 18.5%; P < 0.05, OR= 2.78 and CI 95%, 1.380­5.589. Conclusion: These results concluded that FVL mutation has a high frequency and positive association with the occurrence of deep vein thrombosis among Egyptian cases

Sherif H. Abdeen, **Rizk El-Baz, *Wessam El-Gazar, **Ahmad Settin

2010-06-01

290

Pictorial Metaphor in Selected Egyptian Newspapers Cartoons during the 25th of January 2011 Egyptian Revolution.  

Directory of Open Access Journals (Sweden)

Full Text Available Metaphor is persuasive in having cognitive, emotional and aesthetic effect. It has been argued that any visual representation can be considered a metaphor if it represents a metaphoric thought. Chartris-Black’s Critical Metaphor Analysis and Forceville’s model of pictorial metaphor are both used to analyze the data under investigation. Chateris-Black’s Critical Metaphor Analysis is used based on the idea that the use of metaphors helps in conveying the underlying ideologies of the writers. Moreover, Forceville’s model of pictorial metaphor aims at investigating various types of pictorial metaphor in different genres. The political cartoons investigated in this study are drawn from three independent newspapers: Al Dastour, Al Masry Al Youm and Al Youm AL Sabea during the 25th of January 2011 Egyptian Revolution. This study aims at exploring how metaphors are expressed in the visual mode, more specifically in newspapers cartoons, tracing the use of pictorial metaphor in selected independent newspapers cartoons during the eighteen days of the 25th of January 2011 Egyptian revolution, and finally, identifying the cartoonists’ underlying ideological motivations and their attitudes to the revolution, which ultimately direct the audience’s ideology. The results of this study suggest that Chateris-Black’s Critical Metaphor Analysis can be applied not only on the textual level, but also on the semiotic and pictorial ones. In addition, metaphors are frequently used in political cartoons to evoke strong emotive effect and reinforce ideologies to achieve persuasion. Keywords: Pictorial Metaphor, Critical Metaphor Analysis, political cartoon

Ghada Abdel Aziz Ashmawi

2014-03-01

291

Expression of therapeutic misconception amongst Egyptians: a qualitative pilot study  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Abstract Background Studies have shown that research participants fail to appreciate the difference between research and medical care, labeling such phenomenon as a "therapeutic misconception" (TM). Since research activity involving human participants is increasing in the Middle East, qualitative research investigating aspects of TM is warranted. Our objective was to assess for the existence of therapeutic misconception amongst Egyptians. Methods Study Tool:...

Silverman Henry J; Khalil Susan S; Wazaify Mayyada

2009-01-01

292

Parenting Style, Individuation, and Mental Health of Egyptian Adolescents  

Science.gov (United States)

Three questionnaires that measure parenting style, adolescent-family connectedness, and mental health were administered to 351 Egyptian adolescents. Results show that in rural communities the authoritarian style is more predominant in the parenting of male adolescents, while the authoritative style is more predominant in the parenting of female…

Dwairy, Marwan; Menshar, Kariman E.

2006-01-01

293

The Case for (Social) Entrepreneurship Education in Egyptian Universities  

Science.gov (United States)

Purpose: The purpose of this paper is to explore awareness of social entrepreneurship amongst Egyptian students and to determine what is needed to create more graduate social entrepreneurs. Design/methodology/approach: The theoretical framework is Ajzen's Theory of Planned Behavior. Data collection is a questionnaire survey of 183 of the 2,000…

Kirby, David A.; Ibrahim, Nagwa

2011-01-01

294

Muslim Egyptian and Lebanese Students' Conceptions of Biological Evolution  

Science.gov (United States)

In this study, we investigated distinctions among the diversity of religious traditions represented by Lebanese and Egyptian Muslim high school students regarding their understanding and acceptance of biological evolution and how they relate the science to their religious beliefs. We explored secondary students' conceptions of evolution among…

BouJaoude, Saouma; Wiles, Jason R.; Asghar, Anila; Alters, Brian

2011-01-01

295

Constructing an Engineering Model for Raising an Egyptian Obelisk  

Science.gov (United States)

One of the greatest mysteries of ancient times is how the Egyptians managed to raise huge obelisks using very simple technology. This remarkable task has puzzled engineers for thousand of years. After failing to raise an obelisk with simple machines, such as levers and pulleys, a team of modern engineers solved the mystery using a sandpit and the…

Beck, Charles R.

2009-01-01

296

Zinc status in some Egyptian soils using tracer technique  

International Nuclear Information System (INIS)

Three experiments were conducted to study the available Zn in the egyptian soils these were, i) evaluation of different methods for estimating available Zn. II) a proposed method using tracer technique for estimation the labile pool of Zn. III) a study for the diffusion coefficient of Zn in soils as affected by chelating agents

297

Combined Therapy with Deferiprone and Desferrioxamine as Compared to Desferasirox on Ventricular Function in Thalassemia Major Patients  

Directory of Open Access Journals (Sweden)

Full Text Available AbstractBackgroundMyocardial iron overload is the leading cause of death in patients with beta-thalassemia major.Combined therapy with deferiprone(DFP and desferrioxamine (DFOwere suggested to be more effective than deferasirox(DFX for removing heart iron. Deferasirox has recently been made available but its long-term efficacy on cardiac function has not yet been established. Our study aimed to compare the effectiveness of deferiproneanddesferrioxaminewith deferasiroxon ventricular function in thalassemia major patients.Materials and MethodsIn this clinical trialstudy,72thalassemia major (TM patients were randomised to receive either deferipronecombined with desferrioxamineanddeferasirox ,and thencardiac function were evaluated. Data were analysed for left ventricular ejection fractions(LVEFat baselinebyechocardiograpy, following 12 months of treatment.Results72 TM patientswere enrolled in this study lasting 12 months,36 TMwere placed on DFP/DFO (DFP,50–86 mg/kg body weight; DFO, 24–52 mg/kg body weigh,36received DFX(range 18–40 mg/kg body weight.In 36 patients receiving combined therapy, left ventricular ejection fractionincreased from 59.3+/-5.7% to 63.7+/-5.1% (p=0.001 over 12 months [baseline LVEF values 56-61%]. deferasirox showed no change in LVEF (p = 0.93.We found improvement of left ventricular ejection fractionsin the deferiprone combined with desferrioxamine versus the deferasirox group (P = 0.008.ConclusionThe patients treated with combined therapy with deferiprone and desferrioxamineshowed better systolic ventricular function compared to the patients treated with deferasirox.The patients treated with combined therapy with deferiprone and desferrioxamine showed better systolic ventricular function compared to the patients treated with deferasirox.

Sartipzade NH

2012-09-01

298

Hydroxyurea and termination of transfusion therapy in transfusion dependent thalassemics  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Aim: Hydroxyurea is one of the agents which can cause fetal chain activation and thus may be useful as a therapy for beta thalassemia. We used hydoxyurea in Beta-thalassemia major patients with the aim of making them transfusion independent. Method: We administered orally hydoxyurea in 70 patients of Beta-thalassemia with dose of 15-20 mg/kg/day. They have been followed up for a period of 4 months - 3 years. The age of the patients ranged from 1.5-25 years (mean age 11.6 yrs) T...

Sachdeva, Anand; Khanna, Kumar; Verma, C. P.; Kaul, Dinesh; Arya, Subash C.

2002-01-01

299

Comparative studies on the effect of depithing on pulps from Brazilian and Egyptian bagasses  

Energy Technology Data Exchange (ETDEWEB)

Depithing of Brazilian or Egyptian bagasses before prehydrolysis results in better soda pulp yield, higher alpha-cellulose content, and higher degree of brightness. Under optimum conditions, depithing should be carried out before prehydrolysis to the extent of 5% for Brazilian bagasse and 3% for Egyptian bagasse. Egyptian bagasse produced pulps characterized by lower ash content and higher yield; however, all pulps were suitable for viscose manufacture.

El-Morsy, M.M.S.; El-Gohbasy, R.A.M.

1980-01-01

300

All-directional developments for the Egyptian gas; Developpement tous azimuts pour le gaz egyptien  

Energy Technology Data Exchange (ETDEWEB)

Since several years, several major discoveries of natural gas have been made in Egypt. Egypt aims at doubling the volume of its oil and gas reserves using exploration and development investments of about 10 G USD during the 6 forthcoming years. Proven gas reserves are estimated to 55 Tpc while probable reserves reach about 120 Tpc. The main part of these reserves correspond to new discoveries made in the Mediterranean offshore, the Nile delta, and in the western desert. The natural gas demand has rapidly grown up in Egypt with the progressive substitution of petroleum-fueled power plants by gas-fueled ones. Several gas pipelines and LNG projects are in progress for the export of the Egyptian gas towards Jordan, Syria, Spain and some other European countries. (J.S.)

Anon.

2002-04-01

 
 
 
 
301

Multielement determination in some egyptian vegetables by instrumental neutron activation analysis  

International Nuclear Information System (INIS)

Nondestructive instrumental neutron activation analysis (INAA) technique, with thermal neutrons, has been applied for multielement determination of major, trace and ultra trace elements in eleven types of the public public egyptian, edible vegetables, namely dill, moulokhyia, okra negro bean, parsley, green pea, grape leaves, spinach, mint, celery and salad chervil, cultivated and collected from El-Maadi, Cairo, E G. Concentrations of Na, K, Ca, Sc, Cr, Fe, Co, Ni, Zn, Rb, Zr, Nb, Mo, Sb, Cs, Ba, La, Ce, Tb, Yb, Hf, Ta, Th and U were determined. The standard reference materials (SRM's) G-2, J G-1 and MAG-1, provided from IAEA, were used, and high accuracy of the work was assured. The results were discussed

302

Evaluation of Diet Quality of Egyptian Children and Adolescents using Healthy Eating Index  

Directory of Open Access Journals (Sweden)

Full Text Available Background: Healthful eating is essential for development and well-being. Some dietary patterns are associated with 4 of the 10 leading causes of death (coronary heart disease, certain types of cancer, stroke, and type 2 diabetes. Major improvements in the health of the public can, therefore, be made by improving people's dietary patterns. The U.S. department of Agriculture has developed an index, called the Healthy Eating Index (HEI that was updated in the year 2002. It is based on different aspects of a healthful diet; the Index is designed to provide a measure of overall dietary quality, and the compliance with specific Dietary Guidelines recommendations. The aim of our study is to use the healthy eating index to assess the diet quality of a representative sample of the Egyptian children and adolescents and to examine the association between body mass index and caloric intake of the studied sample. Materials & Methods: This study is a part of National Egyptian survey, Diet, Nutrition and Prevention of Chronic Non-communicable Diseases. The Healthy Eating Index was applied with slight modifications to measure how well the studied Egyptian students' diet conforms to recommended healthy eating pattern. The data were based on representative sample (2145 of children and adolescents (10 -18 years in 7 governorates from. One day of dietary intake data (24 hours recall was collected, during an in-person interview. The Healthy Eating Index measures how well the studied children and adolescents' diets conform to the American Dietary Guidelines recommendations and the Food Guide Pyramid applied in our country. Ten dietary components have been identified and the overall Index has a total possible score ranging from zero to 100. Results: Our results showed that the average Healthy Eating Index score was 59.1 out of a possible 100 and it ranged from 20 to 86, Only 0.5 percent of the students had Healthy Eating scores above 80; while 16.9 percent of them received scores below 50 and the majority (82.5 percent had scores on the Healthy Eating Index between 51 and 80. In an effort to provide a "rating" of the overall student's diet, a grading scale was developed, the majority of students had diets rated as "Needs Improvement", only 0.5 % received diets rated as "Good" and 16.9 % had diets rated as "Poor". Males achieved a slightly higher average Index than females (59.7 Vs 58.2. The average score for food groups is much lower than that for dietary guidelines (23.5 Vs 35.6 out of total score of 50 for each. There was a significant positive correlation of BMI with caloric intake for male adolescents while, for females the correlation was insignificant and negative. More than 80 percent of the sample achieved the recommendations of the American Dietary Guidelines for total fat and cholesterol. Less than two-thirds of the students met the recommendations for saturated fat, Almost 30 percent of the students had the maximum score for sodium. Only 1.0 percent of them received a score of 10 for fibers. Conclusion: the majority of Egyptian children and adolescent' eating patterns, as measured by the HEI, need improvement. The results of the Index are useful in targeting nutrition education and health promotion activities, as it is a single summary measure of diet quality that can be used to monitor changes in food consumption patterns over time. A Food Quality System based on nutrient density can be one tool that can facilitate more healthful food purchases and dietary patterns.

Mervat A. Esmail ­ Wafaa M.A.Saleh ­Nebal A.R.Aboul Ella ­ Asmaa M. Abd

2009-12-01

303

"Evaluation Of compliance To Iron Chelation Therapy With Defe-Roxamine In Patients With Major Thalassemia In Iran In 2004 "  

Directory of Open Access Journals (Sweden)

Full Text Available Background and Aim: With the introduction of long term subcutaneous administration of Deferoxamine there has been a decline in the morbidity and mortality of transfusion-dependent beta thalassemia patients. But parenteral iron chelation therapy is still a burden and a major reason for unsatisfactory compliance and places an additional psychological burden on the patients. There are some factors contributing to low compliance in these patients. To evaluate compliance to Deferoxamine and barriers of non adherence and assessment the prevalence of depression and it’s association with compliance. Materials and Methods: 205 patients with major thalassemia in children medical center older than 6 years old were included. They were classified in 3 groups by compliance index (CI: No. of days of treatment per one month/No. of treatment days prescribed by physician. CI>75 % was considered good ,CI< 50-75%: moderate,CI<50%:weak and 3d group the patients without compliance. For assessment of depression: Beck Depression questionnaires were given to the patients older than 18 years old and Children Depression Inventories (CDI“kovacs” were given to the rest Results: Of 205 patients (110 females (54% and 95 males (46%, 13.3% were non compliant, 14% had poor compliance, 62.7% had good compliance. Females were more compliant than males (P=0.034. Compliance improved in older age groups meaningfully (P=0.037. There was negative association between compliance and serum ferritin level (P=0.02. 22% of children and 12% of Adults had severe depression according to the questionnaires. There was no association between compliance and depression. The most prevalent problem rgarding Desferal injection was local reactions in injection site (83%. Conclusion: As oral chelation therapies are not used routinely, more investigations regarding the noncompliance must be considered; and this method of chelation therapy must be encouraged. Compliance is a multifactorial problem, so the solution to which requires close interaction between the patient, the family and community.

M. Izadyar

2006-06-01

304

The Egyptian Revolution: First Impressions from the Field  

Directory of Open Access Journals (Sweden)

Full Text Available Never has a revolution that seemed so lacking in prospects gathered momentum so quickly and so unexpectedly. The Egyptian Revolution, starting on January 25, lacked leadership and possessed little organization; its defining events, on Friday, January 28, occurred on a day when all communication technologies, including all internet and phones, were barred; it took place in a large country known for sedate political life, a very long legacy of authoritarian continuity, and an enviable repressive apparatus consisting of more than 2 million members. But on that day, the regime of Hosni Mubarak, entrenched for 30 years and seemingly eternal, the only regime that the vast majority of the protesters had ever known, evaporated in one day.Though the regime struggled for two more weeks, practically little government existed during that period. All ministries and government offices have been closed, and almost all police headquarters were burned down on January 28. Except for the army, all security personnel disappeared, and a week after the uprising, only a few police officers ventured out again. Popular committees have since taken over security in the neighborhoods. I saw patriotism expressed everywhere as collective pride in the realization that people who did not know each other could act together, intentionally and with a purpose. During the ensuing week and a half, millions converged on the streets almost everywhere in Egypt, and one could empirically see how noble ethics—community and solidarity, care for others, respect for the dignity of all, feeling of personal responsibility for everyone—emerge precisely out of the disappearance of government.Undoubtedly this revolution, which is continuing to unfold, will be the formative event in the lives of the millions of youth who spearheaded it in Egypt, and perhaps also the many more millions of youth who followed it throughout the Arab world. It is clear that it is providing a new generation with a grand spectacle of the type that had shaped the political consciousness of every generation before them in modern Arab history. All those common formative experiences of past generations were also grand national moments: whether catastrophic defeats or triumphs against colonial powers or allies.

Mohammed A. Bamyeh

2011-02-01

305

Education in Egypt and Egyptian response to eclipses  

Science.gov (United States)

Astronomy and space science educations started in Egypt at the university level since 1939 at Department of Astronomy and Meteorology, Cairo University. Undergraduate and graduate education in Egypt will be discussed in this work. About 15 students yearly obtain their PhD degrees in Astronomy from the Egyptian universities. Seven International groups under my supervision have done the total solar Eclipse observations that took place on 29 March 2006, in El-Saloum (Egypt). The results of observations and photos will be discussed. Egyptian-French group have done the total solar eclipse observations that took place on 25 February 1952 in Khartoum by using Worthington Camera. The research groups of Astrophysics in Cairo University and Helwan observatory are interested in the fields of solar physics, binary stars, celestial mechanics, interstellar matter and galaxies. Most of the researches have been published in national scientific journals, and some of them were published in International Journals.

Hady, A.

2006-08-01

306

Chemical analysis of Yemeni archaeological cheramics and the Egyptian enigma  

International Nuclear Information System (INIS)

Archaeological reconnaissance in Yemen produced samples of mediaeval Islamic ceramics in a 100 km2 region. The ceramics dated from 700 A.d. to 1750 A.D. and initial research indicated that they were all locally made products. 12 types of ceramics were selected for sampling on the basis of stylistic decoration. Six laboratory samples of each type were subjected to neutron activation analysis for the short-lived isotope producing elements using the SLOWPOKE reactor at the University of Toronto. A comparison with Egyptian pottery was carried out. The statistical analysis conducted on the Yemeni and Egyptian pottery produced discrete differences in their elemental composition which the archaeologist and the chemical scientist might not otherwise recognise. It is concluded that artifacts must be analyzed with due respect given to the archeological context, the elemental chemistry, and sound statistical procedures. (author)

307

Egyptian Islamists and the Status of Muslim Women Question  

Directory of Open Access Journals (Sweden)

Full Text Available This paper will explore the gender discourse of contemporary Egyptian Islamists and argue that their gender discourse is not merely a religious and traditional discourse, but that this politico-religious Islamic ideology articulates a quite modern construct of gender equality. The gender discourse of a number of important Egyptian Islamists, al-Banna’, Qutb, al-Ghazali, al-Qaradawi and Ezzat will provide illustrations of these modern developments. Modern elements incorporated in today’s Islamist revivalist approaches create new understandings, neither purely traditional, nor purely modern, that are ‘modern constructs’ that attempt to remain traditional, while integrating specifically modern components. The presence of these two seemingly opposing and contradictory elements may account for the present popularity that Islamist discourses enjoy in many Muslims countries.

Roxanne D. Marcotte

2005-08-01

308

The Egyptian Civil Calendar: a Masterpiece to Organize the Cosmos  

Science.gov (United States)

The ancient Egyptians had just one calendar in operation, the civil one, during most of their history and before the overwhelming influence of Hellenic culture. This calendar may have been invented for a specific purpose in the first half of the third millennium B.C., when the previous local Nile-based lunar calendars were rendered useless, as the result of the unification of the country and new social, economic and administrative requirements. The civil calendar always started at the feast of Wepet Renpet in the first day of the first month of the Inundation season (I Akhet 1). Its peculiar length of only 365 days (without leap years) might have been established from simple astronomical (presumably solar) observations. Consequently, Wepet Renpet wandered throughout the seasons in a period close to 15 centuries. Our research has shown that this phenomenology was reflected in the Egyptian worldview by the orientation of most important sacred structures accordingly.

Belmonte, J. A.

2009-08-01

309

Egyptian Islamists and the Status of Muslim Women Question  

Directory of Open Access Journals (Sweden)

Full Text Available This paper will explore the gender discourse of contemporary Egyptian Islamists and argue that their gender discourse is not merely a religious and traditional discourse, but that this politico-religious Islamic ideology articulates a quite modern construct of gender equality. The gender discourse of a number of important Egyptian Islamists, al-Banna', Qutb, al-Ghazali, al-Qaradawi and Ezzat will provide illustrations of these modern developments. Modern elements incorporated in today's Islamist revivalist approaches create new understandings, neither purely traditional, nor purely modern, that are `modern constructs' that attempt to remain traditional, while integrating specifically modern components. The presence of these two seemingly opposing and contradictory elements may account for the present popularity that Islamist discourses enjoy in many Muslims countries.

Roxanne D. Marcotte

2005-08-01

310

CHEMICAL DETERIORATION OF EGYPTIAN LIMESTONE AFFECTED BY SALINE WATER  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Salt forms are aggressive deterioration problems, which occur on all stone surfaces, mortars and renderings through saline solutions transferred to the stone pores. Deterioration of Egyptian limestone is primarily due to water-soluble salts. The formation of these salts on calcareous stone is the most important chemical reaction involving saline water to cause stone degradation. The study explains the different deterioration phenomena and alteration mechanisms that lead to the formation of sa...

El-gohary, Mohammed

2011-01-01

311

Peanut sensitization in a group of allergic Egyptian children  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Abstract Background There are no published data on peanut sensitization in Egypt and the problem of peanut allergy seems underestimated. We sought to screen for peanut sensitization in a group of atopic Egyptian children in relation to their phenotypic manifestations. Methods We consecutively enrolled 100 allergic children; 2-10 years old (mean 6.5 yr). The study measurements included clinical evaluation for site of allergy, possible precipitating factors, consu...

Hossny Elham; Gad Ghada; Shehab Abeer; El-Haddad Amgad

2011-01-01

312

Sociodemographic factors responsible for blindness in diabetic Egyptian patients  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Khaled Gamal Ibraheem Abueleinen1, Hany El-Mekawey1, Yasser Sayed Saif2, Amr Khafagy1, Hoda Ibrahim Rizk3, Eman M Eltahlawy41Department of Ophthalmology, Cairo University, Cairo, Egypt; 2Department of Ophthalmology, Beni-Suef University, Beni-Suef, Egypt; 3Department of Public Health, Cairo University, Cairo, Egypt; 4Public Health and Community Medicine National Research Center, Cairo, EgyptPurpose: To evaluate factors behind the delay in diagnosis and treatment among Egyptian patients who pr...

Ys, Saif; Khafagy A

2011-01-01

313

Nile Crossings: Hospitality and Revenge in Egyptian Rural Narratives  

Digital Repository Infrastructure Vision for European Research (DRIVER)

This essay looks at acts of hospitality and revenge as constituent elements of a broad social code in rural Egyptian narratives. By looking at five stories in particular, I argue that hospitality and revenge work in complementarity, and that they often trespass and blur each other’s social and literary borders, creating ambiguity and complexity in the stories. The traditional rules that govern hospitality are at times challenged or inverted by hostile intentions, and revenge may be exacted ...

Granara, William E.

2010-01-01

314

Gas hydrates over the Egyptian Med. Coastal waters  

Science.gov (United States)

Natural gas hydrates occur worldwide in different oceanic environments, especially in areas of onshore and offshore permafrost and in sediments on continental slops, PT conditions required to initiate the hydrate formation and to stabilize its structure are encountered along the continental slop of the nile delta. Hydocarbon gases in the Nile Delta are not geochemically homogeneous, originating from the decomposition of organic matter by biochemical and thermal processes. The structure of the hydrate determines the type of gas molecules contained. Although Gas hydrates exist over the Egyptian Med. Coastal waters, very little is known on its, origin, quality and quantity. Several studies had been done by several oil companies in the vicinity of the Egyptian territory. High concentration in thin, patchy zones just above the BSR may be, destabilized by Tectonic uplift or climate changes. The seismic profiles taken over the continental slope of the Nile Delta from Damietta to Rashid gave strong evidence of MH with very clear BSR. Geological and geochemical setting of Gas Hydrate Reservoir in front of the Egyptian Nile Delta need more investigations.

Sharaf El Din, Sayed; Nassar, Marawan

2010-05-01

315

Physical inactivity among Egyptian and Saudi medical students  

Directory of Open Access Journals (Sweden)

Full Text Available Objectives: Medical students, the future doctors, were presumed to be knowledgeable about physical activity and would have future influence on their patients. This study aims to describe the pattern of physical activity, predictors of physical inactivity and perceived barriers to and benefits of physical activity among a sample of Egyptian and Saudi medical students. Methods: A cross-sectional comparative study was carried out on 319 Egyptian and 297 Saudi medical students. The long form of the international physical activity questionnaire (IPAQ was used to measure physical activity. Data was analyzed according to the guidelines for data processing and analysis of the IPAQ. Perceived barriers to and potential benefits of physical activity were reported. Results: Physical inactivity was significantly higher among Saudi than Egyptian medical students (41.1% versus 15.4%, respectively. Logistic regression analysis revealed that the independent predictors of physical inactivity were non-membership in sports clubs (OR =4.6 and use of private cars for transportation (OR=3.9. The most frequent barriers to physical activity are time limitation due to busy study schedule and lack of accessible and suitable sporting places. More than 70% of students perceived that physical activity promotes and maintains health. Conclusions: Because time and access are key barriers to medical student exercise, we believe that provision of free playgrounds in the college to practice sports during free times will promote physical activity in students. [TAF Prev Med Bull 2011; 10(1.000: 35-44

Abdel-Hady El-Gilany

2011-02-01

316

General fire protection guidelines for egyptian nuclear facilities. Vol. 4  

International Nuclear Information System (INIS)

The purpose of this paper is to establish the regulatory requirements of that will provide and ensure fire protection of egyptian nuclear facilities. Those facilities that use, handle and store low and/or medium radioactive substances are included. Two or more classes of occupancy are considered to occur in the same building or structure. Fir protection measures and systems were reviewed for three of the egyptian Nuclear facilities. These are egypt first nuclear reactor (ETRR-1) building and systems, hot laboratories buildings and facilities, and the building including the AECL type Is-6500 industrial cobalt-60 gamma irradiator Egypt's mega gamma I. The study includes the outlines of the various aspects of fire protection with a view to define the relevant highlights and scope of egyptian guideline for nuclear installations. The study considers fire protection aspects including the following items: 1- Site selection. 2- General facility design. 3- Fire alarm, detection and suppression systems. 4- Protection for specific areas/control room, cable spreading room, computer room) 5- Fire emergency response planning. 6- Fire water supply. 7- Emergency lighting and communication. 8- Rescue and escape routes. 9- Explosion protection. 10-Manual fire fighting. 11- Security consideration in the interest of fire protection. 12- quality assurance programme. Therefore, first of all the design stage, then during the construction stage, and later during the operation stage, measures must be taken to forestall the risks associated with the outbreak of fire and to ensure that consequences of fire accidents remain limited

317

Evaluation of genetic diversity and conservation priorities for Egyptian chickens  

Directory of Open Access Journals (Sweden)

Full Text Available In this study, 21 microsatellite markers were used to genotype 196 Egyptian local chickens obtained from Fayoumi (n = 35, Dandarawy (n = 30, Baladi (n = 29, Sinai (n = 30, El-Salam (n = 36, and Golden Montazah (n = 36 strains. The results were compared to two pure commercial chicken populations reared in Japan-White Leghorn (n = 42 and Rhode Island Red (n = 43. A total of 162 alleles were observed, with an average of 7.7 alleles per locus. The average expected heterozygosity for the Egyptian chickens was 0.595. The closest pairwise Nei’s genetic distance was recorded between Sinai and Golden Montazah (0.038 and the smallest pairwise FST value (0.006 was observed between Baladi and Sinai. The most probable structure clustering of the eight studied populations was at K = 6. Baladi, Sinai and Golden Montazah strains were clustered together forming admixed mosaic cluster. Dandarawy ranked firstly and contributed the most to aggregate genetic diversity based on two prioritization methods. The information resulting from this study may be used as an initial guide to design further investigations for development of sustainable genetic improvement and conservation programs for the Egyptian chicken genetic resources.

Shin’ichi Ito

2012-07-01

318

On improvement in ejection fraction with iron chelation in thalassemia major and the risk of future heart failure  

Directory of Open Access Journals (Sweden)

Full Text Available Abstract Background Trials of iron chelator regimens have increased the treatment options for cardiac siderosis in beta-thalassemia major (TM patients. Treatment effects with improved left ventricular (LV ejection fraction (EF have been observed in patients without overt heart failure, but it is unclear whether these changes are clinically meaningful. Methods This retrospective study of a UK database of TM patients modelled the change in EF between serial scans measured by cardiovascular magnetic resonance (CMR to the relative risk (RR of future development of heart failure over 1 year. Patients were divided into 2 strata by baseline LVEF of 56-62% (below normal for TM and 63-70% (lower half of the normal range for TM. Results A total of 315 patients with 754 CMR scans were analyzed. A 1% absolute increase in EF from baseline was associated with a statistically significant reduction in the risk of future development of heart failure for both the lower EF stratum (EF 56-62%, RR 0.818, p Conclusion These data show that during treatment with iron chelators for cardiac siderosis, small increases in LVEF in TM patients are associated with a significantly reduced risk of the development of heart failure. Thus the iron chelator induced improvements in LVEF of 2.6% to 3.1% that have been observed in randomized controlled trials, are associated with risk reductions of 25.5% to 46.4% for the development of heart failure over 12 months, which is clinically meaningful. In cardiac iron overload, heart mitochondrial dysfunction and its relief by iron chelation may underlie the changes in LV function.

Carpenter JP

2011-09-01

319

Effect of zinc supplementation on serum antibody titers to heat shock protein 27 in patients with thalassemia major.  

Science.gov (United States)

Objective This current study was conducted to determine the effect of zinc supplementation on antibody titers to heat shock protein 27 (anti-HSP27) in patients with beta-thalassemia major (?-TM). Methods This was a double-blinded placebo-controlled clinical trial conducted at Dr Sheikh Hospital (Mashhad, Iran) from 2011 to 2012. Sixty-four patients (41 females and 23 males), aged between 8 and 18 years with transfusion-dependent ?-TM were randomly allocated to two age- and sex-matched groups. The zinc (case) group received 30 mg of daily zinc sulfate supplementation and the placebo (control) group received same shape and color placebo over 9 months period of the trial. Serum anti-HSP27 titers were measured at the third and ninth months of the trial, using an in-house enzyme-linked immune-absorbent assay. Result There was a significant difference in anti-HSP27 titers, between the groups after 9 months. The baseline value of anti-HSP27 was 0.44 ± 0.15 in zinc group and were significantly decreased to 0.40 ± 0.18 after 9 months on treatment, while the baseline value of anti-HSP27 were significantly increased from 0.43 ± 0.17 to 0.44 ± 0.18 in the placebo group (P = 0.01). Conclusion Serum anti-HSP27 titers were significantly reduced in patients with ?-TM treated with zinc supplements compared to a group treated with a placebo. It suggests that the potential antioxidant and anti-inflammatory effects of zinc supplements may account for a reduction in anti-HSP27 titers in patients with ?-TM. PMID:23683800

Ghahramanlu, Elham; Banihashem, Abdollah; Mirhossini, Naghme-Zahra; Hosseini, Golkoo; Mostafavi-Toroghi, Hesam; Tavallaie, Shima; Meshkat, Mojtaba; Ghayour-Mobarhan, Majid; Ferns, Gordon

2014-03-01

320

The Problem of the Pyramid or Egyptian Mathematics from a Postmodern Perspective  

Science.gov (United States)

We consider Egyptian mathematics from a postmodern perspective, by which we mean suspending judgement as to strict correctness in order to appreciate the genuine mathematical insights which they did have in the context in which they were working. In particular we show that the skill which the Egyptians possessed of obtaining the general case from…

Shutler, Paul M. E.

2009-01-01

 
 
 
 
321

ASPECTS OF OBSTACLES FOR APPLYING ACTIVITY BASED COSTING (ABC SYSTEM IN EGYPTIAN FIRMS  

Directory of Open Access Journals (Sweden)

Full Text Available The following investigation aims to determine the aspects of obstacles for applying Activity Based Costing (ABC system in the Egyptian case and the significant differences among the effects of such obstacles . The Study used the survey method to describe and analyze the obstacles in some Egyptian firms. The population of the study is Egyptian manufacturing firms. This survey used the number of 392 questionnaires that were used throughout the total of 23 Egyptian manufacturing firms, during the first half of 2013. Finally, the study found some influencing obstacles for applying this system (ABC and there were significant differences among the aspects of obstacles for applying ABC system in the Egyptian manufacturing firms.

Petru STEFEA

2013-10-01

322

BENCHMARKING THE EGYPTIAN MEDICAL TOURISM SECTOR AGAINST INTERNATIONAL BEST PRACTICES: AN EXPLORATORY STUDY  

Directory of Open Access Journals (Sweden)

Full Text Available This paper argues that any compatible strategy for the development of medical tourism at a developing nation should be based primarily on a comprehensive benchmarking study. It has employed the benchmarking phase of a national project for the development of an Egyptian medical tourism strategy to showcase significance of such benchmarking implications. The benchmarking phase of the Egyptian project has used two main data sets to reach reliable findings: a series of best practice destinations claimed to be key players leading the future of the medical tourism sector worldwide and an extensive survey of the Egyptian medical tourism sector. Arguably, the benchmarking process was crucial for the development of the strategy to measure performance of Egypt’s medical tourism sector against international best practices, to identify gaps in the Egyptian medical tourism sector and to address main areas required to develop ‘service value chain’ for the Egyptian medical tourism sector.

Eman M. Helmy

2011-09-01

323

Egypt: A Simulation of Ancient Egyptian Civilization.  

Science.gov (United States)

This simulation allows students to travel north through the six divisions of the Nile River, with each major phase of the simulation called a "cataract". Students earn travel points as they sail the Nile from its source in Central Africa through the Sixth Cataract, all the way to the First Cataract, and then on to the delta where it flows into the…

Sargent, Marcia; Malcolm, Vivian

324

Premature epiphyseal fusion and extramedullary hematopoiesis in thalassemia  

Energy Technology Data Exchange (ETDEWEB)

The main skeletal abnormalities in ..beta..-thalassemia are widening of medullary spaces, rarefaction of bone trabeculae, thinning of cortical bone, and perpendicular periosteal spiculation. Premature epiphyseal fusion (PEF) and extramedullary hematopoiesis (EH) are found, though more rarely. The incidence of PEF and EH in 64 patients affected by ..beta..-thalassemia is reported. The different incidence of such complications in thalassemia major and intermedia is reported, and a possible correlation with transfusion regimen is also considered.

Colavita, N.; Orazi, C.; Danza, S.M.; Falappa, P.G.; Fabbri, R.

1987-10-01

325

The facial reconstruction of an Ancient Egyptian Queen.  

Science.gov (United States)

The National Museums of Scotland Mummy Project has provided important new information about a burial excavated in Egypt. This has resulted in the facial reconstruction of a woman who was probably a queen at Thebes ca. 1570-1520 BCE. There are strong suggestions from the grave goods and her diet that this woman may have been ethnically Nubian rather than Egyptian. However, it is not yet possible to establish her ethnic identity for sure, so a definitive reconstruction of her appearance in life remains elusive. PMID:12554294

Manley, Bill; Eremin, Katherine; Shortland, Andrew; Wilkinson, Caroline

2002-12-01

326

Gamma dose measurements indoor and outdoor of some egyptian buildings  

International Nuclear Information System (INIS)

Some physical parameters affecting the basic dosimetric properties of carbonized aluminum oxide were studied such as Response, Dose recovery, reproducibility, linearity and lower limit of detection. Indoor and Outdoor gamma radiation dose rates were measured inside and outside some Egyptian buildings using Al2 O3-C environmental thermo luminescence dosimeters for 70 days. For these purpose twenty dosimeters of TLD chips were positioned indoor and ten dosimeters were positioned outdoor inside a thin black polythene 30 cm long pipe at one meter above ground as a reference height

327

Education in Maritime Archaeology: The Egyptian Case Study  

Science.gov (United States)

The investigation of archaeological sites of maritime nature started in Egypt more than a century ago, with the discovery of the Dahshur boats (Haldane 1998) and the ancient harbour of Pharos (Jondet 1912); however, education in maritime and underwater archaeology in Egypt is still in its infancy. This paper will look at the development of maritime archaeology in Egypt as a scientific discipline and the progress achieved to date in providing Egyptian archaeologists with education and training in aspects of maritime archaeology and underwater cultural heritage.

Khalil, Emad

2008-12-01

328

Isotopic palaeodiet studies of Ancient Egyptian fauna and humans.  

Digital Repository Infrastructure Vision for European Research (DRIVER)

We report here stable carbon and nitrogen isotope results from human and faunal bone collagen from samples taken from sites in the Egyptian Nile Valley and surrounding region, dating from the Predynastic (c. 5500 BC) through to the Dynastic (c. 343 BC) periods. Isotopic values for the human population cluster together across this broad time range, with high ?15N ratios, and ?13C values indicating a largely C3 based diet. The human data is not easily explained through comparison with our ass...

Thompson, A. T.; Richards, M. P.; Shortland, A. J.; Zakrzewski, S. R.

2005-01-01

329

Mitochondrial Mutation In Egyptian Patients With Type 2 Diabetes Mellitus  

Directory of Open Access Journals (Sweden)

Full Text Available Mitochondrial gene mutation plays a role in the development of diabetes mellitus. An A to G substitution at base pair 3243 in the mitochondrial tRNAleu(UUR gene (mt3243 is commonly associated with maternally inherited diabetes and deafness and other diseases. The aim of this study is to detect A to G substitution at base pair 3243 in mitochondrial RNAleu(UUR in the plasma of patients with type 2 diabetes mellitus, and to evaluate insulin sensitivity in all cases. This study, included 41 patients (Group I, 31 cases with type 2 diabetes mellitus and maternal history of diabetes mellitus-and Group II, 10 cases with type 2 diabetes mellitus, bilateral SNHL, maternal history of diabetes mellitus with or without SNHL. Other10 healthy control group was included. Patients and controls were subjected to full medical history and clinical examination. Serum measurements for liver and kidney function tests, fasting and postprandial blood glucose as well as C-peptide levels, in addition to lipid profile were collected. Audiological evaluation for all patients with SNHL was also done. Genetic investigation, for mDNA analysis, done by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP, to determine the mutation in the mitochondrial gene at position 3243. Results of the study showed that glycemic indices (FPG, 2hPPG and HbA1c, liver enzymes and blood urea were significantly higher among patient group compared to control group (P<0.05. There was no significant difference for values of creatinine and uric acid between cases and controls. Lipid profile was significantly higher among patient group compared to controls (P<0.05, except for HDL-C which was higher in controls however, it did not reach statistical significance. C-peptide values were not significantly different between studied groups. Age at onset of diabetes was relatively earlier in group II than group I. mDNA was present in all plasma samples of patients and controls. mDNA 3243 mutation was detected in the plasma of three patients with diabetes and SNHL with a rate of 7.3% of all diabetic patients and 30% of diabetic patients associated with deafness. The presence of mDNA mutation allowed 294 bp product to be cleaved into 180 and 114 bp fragments and were seen as two bands. In CoclusioN: The A 3243 G mutation is present in Egyptian population and is considered as a cause of maternally inherited diabetes and deafness at a rate of 7.3% of all diabetic subjects and a rate of 30% of diabetics associated with deafness. mDNA mutation is present and detectable in plasma. Maternally inherited diabetes and deafness differs pathophysiologically from the more common forms of type 2 diabetes in that, insulin resistance does not seem to be a major factor.

Fawzi O,A*; Hassan Z,A*; Abdel Kawy S,I**; Al-Diwany O,I**; Adel

2006-06-01

330

Language Maintenance and Transmission: The Case of Egyptian Arabic in Durham, UK  

Directory of Open Access Journals (Sweden)

Full Text Available This sociolinguistic micro-level study examines experiences of five Egyptian families, living in Durham, UK, who are trying to transmit Egyptian Arabic to their children. Answers to the following questions are sought: first, how these language-minority families describe barriers to and supports for passing on Egyptian Arabic to their children? Second, what language decisions they make in order to fulfill their roles? Third, how such decisions are linked to their identity as Egyptians living in an English-dominant country? Finally, what are the factors that helps their children to preserve Egyptian Arabic? The findings, based on data collected through in-depth, semi-structured interviews and participant observation, show that the participants regard Egyptian Arabic as a cultural core value  that is linked with other core values such as religion and identity. Consequently, a number of language-related decisions have been made and implemented to ensure the improvement of their children's Egyptian Arabic spoken proficiency level.

Yasser Ahmed Gomaa

2011-03-01

331

Comparative Study between Yemini and Egyptian types of honey by means of antibacterial activity  

Directory of Open Access Journals (Sweden)

Full Text Available Six samples of Yemeni and Egyptian types of bee honey were chemically analyzed using different chemical standard methods. Yemeni honey types were Dhaba, Samer and Merbeiy while Egyptian types were Citrus, Cotton and Clover. The antibacterial activity of these types of honey was examined using the original samples as well as the samples after heating at 50 and 100 ° C for 30 minutes against pathogenic bacteria. The tested bacteria were Proteus sp, Shigella sp, E. coli, Listeria monocytogenes and Yersinia enterocolitica. Yemeni honey was higher in its mineral content and total sugars than Egyptian one. Total protein and total lipids were highest in Egyptian types of honey. Data also show that heating have no effect on the effectiveness of honey at its high concentration. The Yemeni typs of honey were more active against examined bacteria than Egyptian ones and the values of the minimum inhibitory concentration were lower in case of Yemeni honey than Egyptian ones. Both Yemeni and Egyptian honey exhibited remarkable inhibitory effect against tested bacteria when using liquid cultures.

El-Fadaly

1999-01-01

332

Unusual occurrence of dentoalveolar manifestations in a case with beta thalassemia trait.  

Science.gov (United States)

A case of thalassemia minor with dentoalveolar manifestations in a 22-year-old Iranian male is presented. On the basis of patient complaint of upper incisors mobility, radiographic examination was performed which revealed enlarged medullary space, thin lamina dura, prominent antegonial notch, spiky and short roots of upper incisors and a generalized root resorption. This is the second report of dentoalveolar changes in regard to a minor hemoglubinopathy disorder. In this case treatment was carried out with 1 mg per day oral folic acid for 2 months which relived patient complaint as well as some radiographic changes. PMID:24984659

Alireza, Farhad; Maryam, Allameh

2014-06-01

333

Effect of gamma irradiation on membranes of normal and pathological erythrocytes (beta-thalassemia)  

Energy Technology Data Exchange (ETDEWEB)

The influence of ionizing radiation on the membrane of human normal erythrocytes has extensively been studied and a variety of effects including changes in the cation fluxes or in non-electrolytes permeability, in membrane fluidity, in peroxidation of unsaturated lipids as well as chemical composition or structural modifications has been observed. However, only few studies deal with the effects of ionizing radiation on pathological red blood cells. In this work, we have investigated by means of electron spin resonance (ESR) spectroscopy the effects of /sup 60/Co ..gamma..-radiation on the normal and homozygous ..beta..-thalassemic human erythrocyte membranes.

Sportelli, L.; Rosi, A.; Bonincontro, A.; Cametti, C.

1987-03-01

334

Microwave dielectric properties of human erythrocyte ghosts in normal and pathological state (homozygous beta-thalassemia)  

Energy Technology Data Exchange (ETDEWEB)

The microwave dielectric properties of human normal and homozygous ..beta..-thalassemic erythrocyte ghosts have been measured at the frequency of 10 GHz in the temperature interval from 5 to 50/sup 0/C. The permittivity and the dielectric loss have been analysed in terms of the Maxwell-Wagner equation for heterogeneous systems. The presence of a remarkable amount of interfacial water at the membrane surface has been evidentiated and some differences in the dielectric parameters of normal and pathological ghosts observed.

Ballario, C.; Bonincontro, A.; Cametti, C.; Rosi, A.; Sportelli, L.

1984-04-01

335

[The prevention of beta-thalassemia in French-speaking Belgium. II. Proposal of a strategy].  

Science.gov (United States)

Medico-social surveys and pilot experiments, conducted by the authors in Wallonia and Brussels at the request of the Ministry for the French-Speaking Community, have allowed the definition of a community-scale prevention programme. High-quality information, repeated at regular intervals and adapted to the different environments, is vital for effective voluntary screening. The contents of this information and distribution methods have been specified. Screening will take place on an occasional basis among people at risk who request it, or who accept it as an addition to other planned blood tests (curative or preventive consultations); microcytosis must be considered as a definite indication for further work up. Systematic screening is recommended in the framework of upper secondary education, through cooperation between volunteer teachers and the staff of school medical institutions; teaching methods and means have been reviewed. PMID:2609843

Lambotte, C; Bouckaert, A; Di Stefano, O; Schkoda, D; Fondu, P

1989-01-01

336

Prevalence of renal tubular dysfunction in beta thalassemia minor in shiraz  

Directory of Open Access Journals (Sweden)

Full Text Available  Background & objective: ?-Thalassemia minor is an asymptomatic hereditary disease. The first study on the relation of renal tubular dysfunction and ?-thalassemia minor was performed in 2002 but those studies seem inadequate.The main goal of this study is through evaluation of renal tubular function in 100 patients with thalassemia minor. Materials & Methods: 100 patients with ?- thalassemia which confirmed by hemoglobin electrophoresis and CBC as well as RBC indices were studied.14 out of 100 cases exit because of Urinary Tract Infection, diabetes mellitus or hypertension.Complete chemistry profile was performed on serum and urine of all reminder 86 patients (46 female and 40 male. Patients classified into two groups: ?-thalassemia minor with anemia and without anemia. Another control group include 50 healthy individuals also considered.Then data analyzed by proper statistical methods. Results: 20 out of 86 reminder cases e.g. 24% showed at least one index of renal tubular dysfunction.58% of patients was been anemic and 42% non anemic. The most prominent tubular dysfunction was seen in a 29 years old lady with glucosuria and without anemia. conclusion: ?-Thalassemia minor is common in Iran specially in Fars province. This study revealed significant renal tubular dysfunction in patient with ?-thalassemia minor. So it is necessary to check out thalassemic patients for renal function tests periodically. Key words: ?-thalassemia, minor,renal tubular dysfunction

Ali Moradi Nakhodcheri

2012-02-01

337

E BETA THALASSEMIA COMPLICATED BY STEROID RESPONSIVE AUTO IMMUNE HEMOLYTIC ANEMIA DUE TO SYSTEMIC LUPUS ERYTHEMATOSUS  

Directory of Open Access Journals (Sweden)

Full Text Available Thalassemia patients may have superadded acquired hemolytic diseases. This may cause a sudden increase in transfusion requirement. However, such acquired hemolysis is very difficult to diagnose in presence of Thalassemia. We here report a case of thalassemia complicated by hemolytic anemia secondary to SLE. This is probably the first report of this association from India. This combination of two hemolytic diseases is potentially fatal. The autoimmune hemolytic component responded well to immunosuppressive therapy and there was significant reduction in transfusion requirement.

Paul Rudrajit

2013-04-01

338

Effect of gamma irradiation on membranes of normal and pathological erythrocytes (beta-thalassemia)  

International Nuclear Information System (INIS)

The influence of ionizing radiation on the membrane of human normal erythrocytes has extensively been studied and a variety of effects including changes in the cation fluxes or in non-electrolytes permeability, in membrane fluidity, in peroxidation of unsaturated lipids as well as chemical composition or structural modifications has been observed. However, only few studies deal with the effects of ionizing radiation on pathological red blood cells. In this work, we have investigated by means of electron spin resonance (ESR) spectroscopy the effects of 60Co ?-radiation on the normal and homozygous ?-thalassemic human erythrocyte membranes. (orig.)

339

the characterization of exon-1 mutation(s) of beta globin gene in beta thalassemia  

International Nuclear Information System (INIS)

?-thalassemia constitutes one of the most serious health problems worldwide, it is the most common chronic hemolytic anemia in egypt. the aim of this work is to study the mutations of exon-1 of ?-globin gene in ?-thalassaemic children in sharkia governorate. the present study was included 25 healthy children and 50 patients diagnosed as ?-thalassemia. this work showed that the thalassaemic patients had significantly decrease in Hb conc . than the control group (p 2 showed a significant increase as compared with the control group

340

Adverse effects of hydroxyurea in beta-thalassemia intermedia patients: 10 years' experience.  

Science.gov (United States)

The aim of this study was to evaluate the tolerance and adverse effects of hydroxyurea (HU) in thalassemia intermedia (TI) patients who had been treated by HU for a period of 10 years. One hundred forty-three TI patients, including 78 male and 65 female, median age 21 years old (range: 5-37 years old), who were treated by HU were investigated as a case study, and 106 TI, including 63 male and 43 female, median age 22 years old (range: 5-39 years old), who were not treated by any HU as a control group. Mean dose of HU treatment was 10.74 mg/kg/day (range: 8-12 mg/kg/day) and adverse effects of HU were recorded in 44 (30.7%) patients. Dermatologic side effects were most commonly seen, followed by neurological and gastrointestinal adverse effects. There were not any reports of hematologic toxicity or any signs of bone marrow suppression during HU treatment. Statistical analysis showed a positive correlation between advancing age and the presence of adverse effects during HU treatment (P .05). It was also observed that splenectomized patients more frequently experienced adverse effects of HU (P < .05). According to these results, it seems that most of adverse effects in low-dose HU therapy in patients with TI, at least in short and medium terms, are minor and can be tolerated without needs of discontinuation of treatment. PMID:20367264

Karimi, Mehran; Cohan, Nader; Mousavizadeh, Kazem; Moosavizadeh, Kazem; Falahi, Mohammad Javad; Haghpanah, Sezaneh

2010-04-01

 
 
 
 
341

Results of minimally toxic nonmyeloablative transplantation in patients with sickle cell anemia and beta-thalassemia.  

Science.gov (United States)

We describe previously transfused patients with sickle cell disease (n = 6) and thalassemia (n = 1) who received nonmyeloablative hematopoietic stem cell transplantation (HCT) to induce stable (full or partial) donor engraftment. Patients were 3 to 20 years (median, 9 years) old. All 7 received pretransplantation fludarabine and 200 cGy of total body irradiation; 2 patients also received horse antithymocyte globulin. Patients received bone marrow (n = 6) or peripheral blood stem cells (n = 1) from HLA-identical siblings, followed by a combination of mycophenolate mofetil and cyclosporine or tacrolimus for postgrafting immunosuppression. After nonmyeloablative HCT, absolute neutrophil counts were transfusions were administered. No grade IV nonhematologic toxicities were observed. One patient experienced grade II acute graft-versus-host disease. Two months after transplantation, 6 of 7 patients had evidence of donor chimerism (range, 25%-85%). Independent of red blood cell transfusions, these 6 patients initially had increased total hemoglobin and hemoglobin A concentrations and a reduction of reticulocytosis and transfusion requirements. There were no complications attributable to sickle cell disease during the interval of transient mixed chimerism. However, after posttransplantation immunosuppression was tapered, there was loss of the donor graft, and all patients experienced autologous hematopoietic recovery and disease recurrence. One patient did not engraft. The duration of transient mixed chimerism ranged from 97 to 441 days after transplantation in patients 4 and 6, respectively, and persisted until immunosuppressive drugs were discontinued after transplantation. In summary, the nonmyeloablative HCT regimens described here produced minimal toxicity and resulted in transient donor engraftment in 6 of 7 patients with hemoglobinopathies. Although complications from the underlying hemoglobinopathies did not occur during the period of mixed chimerism, these results suggest that stable (full or partial) donor engraftment after nonmyeloablative HCT is more difficult to achieve among immunocompetent pediatric patients with hemoglobinopathies than among adults with hematologic malignancies, perhaps in part because recipients may have been sensitized to minor histocompatibility antigens of their donor by preceding blood transfusions. PMID:12931121

Iannone, Robert; Casella, James F; Fuchs, Ephraim J; Chen, Allen R; Jones, Richard J; Woolfrey, Ann; Amylon, Michael; Sullivan, Keith M; Storb, Rainer F; Walters, Mark C

2003-08-01

342

Health related quality of life in Middle Eastern children with beta-thalassemia  

Directory of Open Access Journals (Sweden)

Full Text Available Abstract Background Thalassemia is a common disorder worldwide with a predominant incidence in Mediterranean countries, North Africa, the Middle East, India, Central Asia, and Southeast Asia. Whilst substantial progress has been made towards the improvement of Health related quality of life (HRQoL in western countries, scarce evidence-based data exists on HRQol of thalassemia children and adolescents living in developing countries. Methods We studied 60 thalassemia children from Middle Eastern countries with a median age of 10?years (range 5 to 17?years. HRQoL was assessed with the Pediatric Quality of Life Inventory (PedsQL 4.0. The Questionnaire was completed at baseline by all patients and their parents. The agreement between child-self and parent-proxy HRQoL reports and the relationship between HRQoL profiles and socio-demographic and clinical factors were investigated. Results The scores of parents were generally lower than those of their children for Emotional Functioning (mean 75 vs 85; p?=?0.002, Psychosocial Health Summary (mean 70.3 vs 79.1; p?=?0.015 and the Total Summary Score (mean 74.3 vs 77.7 p?=?0.047. HRQoL was not associated with ferritin levels, hepatomegaly or frequency of transfusions or iron chelation therapy. Multivariate analysis showed that a delayed start of iron chelation had a negative impact on total PedsQL scores of both children (p?=?0.046 and their parents (p?=?0.007. Conclusions The PedsQL 4.0 is a useful tool for the measurement of HRQoL in pediatric thalassemia patients. This study shows that delayed start of iron chelation has a negative impact on children’s HRQoL.

Caocci Giovanni

2012-06-01

343

A study of the prevalence of thalassemia and its correlation with liver function test in different age and sex group in the Chittagong district of Bangladesh.  

Science.gov (United States)

Thalassemia is the name of a group of genetic, inherited disorders of the blood. More specifically, it is a disorder of the hemoglobin molecule inside the red blood cells. According to World health Organization (WHO), there are about 3% beta-thalassemia carrier and about 4% Hb E/beta-thalassemia carrier in Bangladesh. Our objective is to identify the prevalence of beta-thalassemia in our adolescent populations and to review risk factors that would most easily identify a subset of adolescent patients at greatest risk for the development of beta-thalassemia. We also made a study of clinical profile of 53 thalassemic patients, observing the relationship between the patients with their verity ages and sex. The cases are taken on the basis of their age (2-30 years), beta-thalassemia major, clinical jaundice with history of chronic blood transfusion. The cases excluded those who had jaundice due to viral hepatitis or hepatitis due to heavy metal poisoning (Arsenic) and those with spleenectomy. Liver function test has been evaluated in 53 patients. That were recorded with some relevant demographical data such as age, sex, blood group where median age was of 16 years and mean (±SD) age 15.4151 ± 7.90918. Among them were 21 (39.6%) female and 32 (60.4%) male. With an average 15.1% (8 in no.) beta-thalassemia, 7.5% (4 in no.) beta-thalassemia major and 77.4% (41 in no.) E-beta-thalassemia cases have been found in the study. Mean (±SD) TSB in total 53 subjects with age group 2-10 years and 21-30 years is significant. The study revealed that in thalassemic patients when the age is more, the disease progresses with their complication. Hepatic complication is mainly due to being hepatocellular in nature than that of obstructive one. PMID:24826050

Palit, Sarmi; Bhuiyan, Robiul H; Aklima, Jannatul; Emran, Talha B; Dash, Raju

2012-09-01

344

Comparative studies on Egyptian elapid venoms.  

Science.gov (United States)

The immunological properties of Naja haje from Western Desert, Naja haje of the Nile Delta, Naja nigricollis from Upper Egypt and Walternnesia aegyptia from Sinai Desert were compared using horse serum antivenin prepared from the Delta Naja haje venom. All elapid venoms showed very similar precipitin lines with immunodiffusion or immunoelectrophoresis on agar gel. Results of cellulose-acetate electrophoresis showed either different concentration of certain similar protein components or the absence of some major protein fractions. However, different migration and localization of protein components were observed. LD50 of the 4 elapids and their degree of lethality was determined. Naja haje (Delta) antivenin had different degree of neutralization capacity on the investigated elapid venoms. No correlation between immunodiffusion similarities and the degree of neutralization could be deducted. PMID:6781151

Hassan, F; Seddik, S

1980-12-01

345

Chemical Evaluation of Irradiated Egyptian Truffles  

International Nuclear Information System (INIS)

The main objective of this study is to investigate and evaluate the chemical compositions of irradiated and non-irradiated truffles (Al-Kamah)as a natural product for human nutrition with concentrated high value protein supplementation. White and brown truffles grow in Egypt and White truffle is identified as Tirmania nivea and brown truffle is identified as Terfezia budiari. Field survey for four truffle seasons including the best habit for production in Sidi Barani and Salum. Chemical composition of fresh and stored truffles indicated some differences between the two studied species. It was found that the white truffle had higher contents of carbohydrate and fat (45.5% and 7.2%), thenbrown truffle (47.5% and 7.5%)respectively, while the browntruffle had the higher contents of proteins, fiber and ash (23.8%, 8%, and 14%) than the white (22.8, 7.5 and 8% resp.). Cysteine was the highest amino acid in white truffle, while isoleucine was the highest one in brown truffle. The major fatty acids appeared in white and brown truffles were linoleic (46 and 28.3%) and Oleic (37.5 and 6209%) of total fatty acids. B-sitosterol was the major sterol in white truffle while stigmasterol in brown truffle (3.4% and 42.6%). The phytochemical screening revealed that numerous compounds are present as saponins, alkaloids, nitrogen bases,sterols, triterpenes and glycosides. The effect of irradiation (2 K Gy) was limited on bio-component. On the other hand, the biochemical components were investigated in irradiated truffle as a method for preservation. Some changes were observed during storage for 2 months. These chages affect the nutrition value of truffle

346

Legal Elements For Nuclear Security: Egyptian Nuclear Law As A Case Study  

International Nuclear Information System (INIS)

This paper deals with the legal bases for nuclear security. First, It analysis the international legal framework for nuclear security. Second, it analysis the legal bases for the import-export control. The legal aspects related with illicit trafficking (IT) were also reviewed. Third, It deals with the Egyptian nuclear law no. 7 and its executive regulation. The Egyptian legal regime for nuclear security and the role of State System for Accounting and Control of Nuclear Materials (SSAC) in realizing the nuclear security were also discussed. The purpose of the paper is to evaluate the Egyptian legal framework for nuclear security.

347

A Primary Master Plan of Gardens’ City- A New City in Egyptian Western Desert (EGCWD  

Directory of Open Access Journals (Sweden)

Full Text Available This paper discusses the primary master plan of the gardens’ city, which is planned to depend on renewable energy. Gardens’ city lies in the Egyptian’s western desert in newly discovered to be developed areas, namely in the new Farafra oases. The general master plan of the city is designed for 117,000 inhabitants, with a final target of settling of 1 Million inhabitants in the oasis. The city has agricultural and industrial based economy, depend on renewable energy (solar and wind energy, and has the first Egyptian college of renewable energy.

Somaya T. Abouelfadl

2013-04-01

348

Vector competence of Egyptian mosquitoes for Rift Valley fever virus.  

Science.gov (United States)

Reintroduction of Rift Valley fever (RVF) into Egypt in 1993 raised concerns about the potential for Egyptian mosquitoes to transmit the virus. We evaluated the ability of Aedes caspius, Culex pipiens, Cx. antennatus, Cx. perexiguus, Cx. poicilipes, and Anopheles pharoensis collected in the Aswan area and Cx. pipiens collected in the Nile Delta to transmit RVF virus. All mosquito species tested were susceptible to RVF virus infection, with An. pharoensis and Ae. caspius being the most sensitive to infection. However, none of 12 An. pharoensis, including 10 with a disseminated infection, transmitted RVF virus by bite. In contrast, nearly all Cx. pipiens (87%, n = 15) and Cx. perexiguus (90%, n = 10) with a disseminated infection transmitted virus. Overall transmission rates for mosquitoes exposed to hamsters with a viremia > or = 10(7) plaque-forming units/ml were Ae. caspius, 20% (n = 5); Cx. pipiens, 7% (n = 102); Cx. antennatus, 7% (n = 30); Cx. perexiguus, 11% (n = 9); and An. pharoensis, 0% (n = 7). Based on abundance, susceptibility to infection, ability to transmit virus, and feeding behavior, Ae. caspius appeared to be the most efficient vector of the Egyptian mosquitoes evaluated. While less susceptible than Ae. caspius, Cx. pipiens, Cx. antennatus, and Cx. perexiguus were also potential vectors during this RVF outbreak in Egypt. PMID:8619436

Turell, M J; Presley, S M; Gad, A M; Cope, S E; Dohm, D J; Morrill, J C; Arthur, R R

1996-02-01

349

Egyptian FGM policy fails to prevent girl's death.  

Science.gov (United States)

The form of female genital mutilation (FGM) predominantly practiced throughout Egypt consists of the surgical removal of the clitoris and often the inner labia. The practice reduces the level of a woman's sexual sensation and causes pain, psychological trauma, and the risk of infection and hemorrhage. An estimated 80% of Egyptian girls undergo the procedure. Egypt's Ministry of Health in 1994 decided to permit only doctors in government hospitals to perform FGM. This policy was adopted in an effort to make safer what was considered to be an inevitable practice. However, the policy was revoked in October 1995 after women's rights and health advocates criticized it as a government endorsement of FGM. An 11-year-old Nile Delta girl died July 12, 1996, as a result of FGM. The Health Ministry subsequently banned all registered health professionals from performing FGM. Two months later, on August 24, a 14-year-old girl died from hemorrhaging shortly after undergoing FGM. These recent deaths challenge the effectiveness of Egypt's new attempts to prevent FGM. Barbers and midwives in Egypt perform thousands of mutilations annually. While they are theoretically subject to criminal penalties for performing surgery without a license, the laws are rarely enforced. Furthermore, despite existing regulations, no provision in the Egyptian penal code criminalizes FGM. PMID:12320424

1996-09-01

350

Moessbauer spectra electrical and thermal conductivities of egyptian granite  

International Nuclear Information System (INIS)

Egyptian granitic rocks from different location (samples S 1, S 3, S 4 and S 5) from Sinai while (AS1 and AS5 from A swan) are investigated by measuring the room temperature Moessbauer spectra (M S), the electrical properties (DC conductivity and the dielectric constant at temperatures up to 520 k ). Thermal properties are also studied (thermal conductivity; ?, thermal diffusivity; a, and specific heat capacity; C at temperatures up to 770 k) by using the flash method. The electric conductivity-temperature dependence showed an anomalous behaviour. It was also found that the specific heat capacity slightly increased with temperature while the thermal conductivity decreased with temperature. The main mechanism of heat transfer in the granitic rocks was due to phonons. Granite sample whose M S indicated the presence of metallic iron and ?- Fe2 O3 showed different behaviours in its electrical and thermal properties. The values of electrical conductivity, dielectric constant, and thermal conductivity are specified for the Egyptian granite.12 figs.,1 tab

351

X-ray analysis of pigments on ancient Egyptian monuments  

International Nuclear Information System (INIS)

Ancient pigments were analyzed using PIXE and XRD methods in the laboratory, which were painted on ancient Egyptian monuments. On the other hand, those on monuments remaining with entire shape were investigated using the hand-held type of an XRF spectrometer and an X-ray diffractometer in the field. For the laboratory experiment, several wall fragments of the Malqata palace in ancient Egypt (18th Dynasty, ca. 1390 B.C.) were investigated. In the field experiment, the block of Ramesses II (19th Dynasty, ca. 1270 B.C.), the Wooden Coffin of Neb-sny (18th Dynasty, ca. 1400 B.C.), the Funerary Stele of Amenemhat (11th Dynasty, ca. 2000 B.C.), and the painted walls of the Tomb of Userhat (18th Dynasty, ca. 1400 B.C.) were investigated. From white and blue colored parts, huntite and Egyptian blue were found, respectively, which are a very rare mineral and an artificial pigment prepared only in ancient Egypt, respectively. (author)

352

Detection and molecular characterization of Egyptian isolates of grapevine viruses.  

Science.gov (United States)

Selected commercial and/or local vineyards and nurseries in three different governorates of Egypt (Alexandria, El-Beheira and El-Menofia) were surveyed for symptoms indicative of infection by grapevine viruses. Leaf samples from red-fruited and white-fruited Vitis vinefera were tested for grapevine leafroll associated viruses (GLRaV-1, GLRaV-2, and GLRaV-3), grapevine viruses A and B (GVA, GVB), grapevine rupestris stem pitting virus (GRSPaV), grapevine fanleaf virus (GFLV), and grapevine fleck virus (GFKV) from early April to late October 2010. Incidence of these viruses was assessed by RT-PCR in 60 different samples. Selected amplicons were sequenced. While GVA was the most wide spread (30%), GLRaV-1, GVB, GFLV, and GFKV were not detected during the survey. However, GVA, GLRaV-2, GLRaV-3, and GRSPaV were detected in the form of single infection or in mixed infections of 2 to 4 viruses. Phylogenetic analysis was performed on all Egyptian isolates of GLRaV-2 (4), GLRaV-3 (7), GVA (3), and GRSPaV (6). GRSPaV was detected for the first time in Egypt. Phylogenetic analysis provided insights into the evolutionary relationship between the reported Egyptian isolates and other previously reported isolates. PMID:24957718

Fattouh, F; Ratti, C; El-Ahwany, A M D; Aleem, E Abdel; Babini, A R; Autonell, C Rubies

2014-01-01

353

Internal Auditors’ Characteristics and Audit Fees: Evidence from Egyptian Firms  

Directory of Open Access Journals (Sweden)

Full Text Available Reliance of external auditors on the work of internal auditors is very important but yet, complex decision tasks that require professional judgment as it is influenced by a number of factors, characteristics of internal auditors are of the most important factors to be considered. The paper obtains various criteria relating to the evaluation of internal audit organizational status, work performed, competence, and professional due care as stipulated in Professional Auditing Standards including the Egyptian Auditing Standard (EASNo.610 “Using the work of internal auditors”. This study revealed that internal auditors’ characteristics assist in increasing external auditors’ reliance on their works and so minimize external auditors’ efforts and so fees. Data on internal audit characteristics are obtained from survey respondents of Egyptian companies and audit fee data are obtained from their annual reports. Results indicate that lower external audit fees are associated with top management support for internal auditors, not imposing constraints on internal auditors works, is ready to act upon internal audit staff findings and recommendations, adequacy of education of internal auditors, good practices for hiring and training internal auditors. Also, lower external audit fees are associated with adequacy of working paper documentation supporting internal auditors’ conclusions, sufficiency of internal auditors’ evidences.

Dalia A. Abbass

2013-03-01

354

Planning closure safety assessment for the Egyptian near surface disposal facility  

International Nuclear Information System (INIS)

The development of a repository is a significant national effort requiring several decades to complete, as well as a substantial amount of skilled human, economical and technical resources. Planning and implementation of different disposal activities proceed in a stepwise manner, guided by decision points. Granting license is considered one of the major decision points that require the presentation of a safety case to evaluate the acceptability of the repository practice. The Egyptian regulation requiring the conduction of safety assessment studies as an essential requirement in license application for construction, operation, and closure of a near surface disposal. Closure of a disposal facility is the last major operational step in completing the disposal system. It requires the consideration of a combination of scientific, engineering, regulatory, and socio-economic factors that are integrated and optimized to select cost-effective alternatives acceptable to all interested parties. In this work, a general framework will be established to conduct a safety assessment methodology for closure of near surface disposal. (author)

355

Prevalence of thyroid dysfunction in Egyptian chronic hepatitis C patients treated with Pegylated interferon and Ribavirin  

Directory of Open Access Journals (Sweden)

Full Text Available Background: Hepatitis C is a major cause of liver-related morbidity and mortality and represents a major public health problem in Egypt and worldwide. INF therapy is the most popular treatment for HCV. INF has many side effects most of them still under study. The development of thyroid dysfunction during IFN and Ribavirin combination therapy has been reported. Aim: The aim of this study is to assess the Prevalence of thyroid dysfunction in Egyptian chronic hepatitis C patient treated with pegylated interferon and Ribavirin Materials & Methods: The study was conducted in cooperation between Internal Medicine Department, Faculty of Medicine, Cairo University and Internal Medicine Department, out patients' clinic of National Hepatology and Tropical Medicine Research Institute (NHTMRI in the period from January 2009 to June 2010. The current study included 200 patients who fulfilled the predesigned inclusion criteria. TSH was done pre treatment, every 3 months during treatment and 3 months following termination of treatment also were done for all cases. Also, FT3 and FT4 were done if there is abnormal TSH. Results: The prevalence of thyroid dysfunction in chronic hepatitis C patients treated with pegylated INF and Ribavirin reaching 19% in this study.

Sherif M. Naguib1, Ahmed M.Hashem1, Radi Hammad2,Mohamad A.Hassanein3,Niveen

2011-04-01

356

A bleaching earth from egyptian local deposits  

Directory of Open Access Journals (Sweden)

Full Text Available The present investigation deals with the bleaching of vegetable oils using activated clays collected from some deposits in Egypt as compared to Tonsil FF currently used by local oil industry. The comparison was made; not only on the basis of the decolourising power of the earth, but also on the basis of its effects on the oil acidity, formation of the oil peroxides and the decomposition rate of the formed peroxides to aldehydes and ketones during the bleaching process. The activation of the collected earth samples was made using 4N HCl, 6N HCl and 30 % H2SO4. The bleaching tests of the activated samples were performed using the major four oil types processed in Egypt being cottonseed, sunflower, soybean and palm oils. In addition to the laboratory-evaluation tests, the performance of the activated samples, which showed promise on the lab-scale have been also tested on an industrial scale. The industrial application has proved that the activated local earth's can be successfully used as bleaching earth of local oils. Thus it can be used as a substitute of the varieties currently imported and used by the local oil sector.La presente investigación trata de la decoloración de aceites vegetales usando tierras activadas obtenidas de yacimientos egipcios, comparándola con el Tonsil FF usado normalmente en la industria oleícola local. La comparación se realizó, no sólo sobre la base del poder decolorante de la tierra, sino también sobre la base de sus efectos en la acidez del aceite, la formación de peróxidos y la velocidad de descomposición de los peróxidos formados en aldehidos y cetonas durante el proceso de decoloración. La activación de las muestras de tierras recogidas se hizo utilizando ClH 4N, ClH 6N y H2SO4 30 %. Los tests de decoloración de las muestras activadas se llevaron a cabo usando los cuatro tipos mayoritarios de aceites procesados en Egipto: aceite de semilla de algodón, de girasol, de soja y de palma. Además de los tests a escala de laboratorio, la evaluación de las muestras activadas, se realizó a escala industrial. La aplicación industrial ha demostrado que las tierras locales activadas pueden ser utilizadas con éxito como tierras decolorantes de aceites locales. De este modo pueden usarse como sustitutos de las variedades mas frecuentemente importadas y usadas por el sector aceitero.

El Kinawy, Omayma S.

2001-10-01

357

Human infection with Bertiella studeri (Cestode: Anoplocephalidae) in an Egyptian worker returning back from Saudi Arabia.  

Science.gov (United States)

Perhaps this is the first case of bertiellosis studeri record in Egyptian worker returning back from Saudi Arabia. The patient was resistant to Niclosamide but successfully treated with Commiphora molmol extract. PMID:20503589

Al-Mathal, Ebtesam M; Saleh, Nagla Mostafa K; Morsy, Tosson A

2010-04-01

358

An investigation into the ancient Egyptian cultural influences on the Yorubas of Nigeria  

Scientific Electronic Library Online (English)

Full Text Available SciELO South Africa | Language: English Abstract in english There are many cultural practices that connect ancient Egyptians to the Yorubas and the new interpretation of the Oduduwa legend suggests that the Yorubas have originated or are influenced mainly by the Egyptians. The attestation of Egypt as the main influencer of the Yoruba culture made Egypt signi [...] ficant in the study of the history of the Yoruba people. Some writers are beginning to think that the ancient Egyptians were responsible for introducing and spreading many cultures amongst the Yorubas. As more Yorubas are tracing their origins and the origins of their culture to ancient Egypt, this research investigates whether the Egyptians were the originators and the main spreaders of the afterlife culture in Yorubaland.

Jock M., Agai.

359

Cardiac MRI and Iron Overload Cardiomyopathy in Thalassemia Major: A Case Report  

Science.gov (United States)

Introduction: Heart failure is the leading cause of death in patients with Thalassemia major and primarily results from transfusional iron overload. It is essential to assess myocardial iron load. Previous studies have shown that neither serum ferritin nor liver iron concentration gives a reliable measure of cardiac iron accumulation. Cardiac T2* MRI technique offers noninvasive measurement of myocardial iron load. Case Report: A 39-year-old man with a past medical history significant for beta thalassemia major requiring blood transfusions every three-weeks and on iron chelation, presented with a cough, high fevers, and chills. He was subsequently found to have community acquired pneumonia and was treated with ceftriaxone and doxycycline. His hospital course was significant for episodes of atrial fibrillation and non-sustained ventricular tachycardia. An echocardiogram showed normal left ventricular function with an ejection fraction of 70%, which hadn't changed from 2011. Although, the patient didn't have symptoms of heart failure, he likely had ventricular dysfunction that could be masked by the basal high cardiac output which can be seen in patients with chronic anemia and we decided to start the patient on sotalol 80 mg twice a day. The MRI software for multiecho T2* measurement was installed at Queens Medical Center in September 2011 and we were able to obtain images for our patient at that time. His myocardial T2* value was estimated to be 9 milliseconds which suggests an increased risk for the development of future cardiac arrhythmias and heart failure. The repeat cardiac MRI images after discharge showed 8 milliseconds which suggested an interval worsening of the iron deposition within the myocardium. Discussion: We were able to keep track of the progression of his iron cardiomyopathy, and start additional treatment. The patient continues to be followed by a hematologist for management of his hemochromatosis and a cardiologist for his infiltrative heart disease both resulting from his need for chronic blood transfusions. In patients with iron overload cardiomyopathy, their systolic function is preserved until a very late stage as iron deposition begins within the epicardium and extends to the myocardium. This case illustrates the importance of assessing cardiac iron content utilizing cardiac MRI as it is less invasive than cardiac biopsy and may show earlier involvement than echocardiogram.

Azuma, Steven

2014-01-01

360

Moessbauer effect of the origin of the colour in the ancient Egyptian black ware  

International Nuclear Information System (INIS)

Samples of ancient Egyptian pottery, Roman pottery and modern pottery were examined by Moessbauer spectroscopy, infrared spectroscopy and x-ray diffraction with the aim of establishing the origin of the black colour of the Egyptian pottery. The Moessbauer spectra and the values of isomer shift and quadrupole splitting were used to decide on the presence of magnetic or non-magnetic ferrous or ferricions. (A.K.)

 
 
 
 
361

The future of the independent Egyptian music in the digital era  

Digital Repository Infrastructure Vision for European Research (DRIVER)

This thesis is investigating the impact of the digital era with its technological advanced components and revolutionized information platforms on shaping the future of the independent Egyptian music. The author investigated this impact through conducting fifteen semi structured qualitative interviews between the 15th of December 2012 to 25th of January 2013 with the relevant Independent Egyptian Music stakeholders who gave the researcher a better insight of what is the optimal business model(...

Maraghah, Mohammad

2013-01-01

362

Epidemiology of Shigella-associated diarrhea in rural Egyptian children.  

Science.gov (United States)

During the period from February 1995 to February 1998, the epidemiology of Shigella diarrhea was studied among children less than three years of age residing in Egypt's Nile Delta. Children were visited twice a week and a stool sample was collected from any of them with diarrhea. The incidence of Shigella-associated diarrhea was 0.2 episodes/child-year, with S. flexneri being the most common serogroup isolated (55% of Shigella episodes). Younger age and the warm months increased the risk of developing Shigella-associated diarrhea, while breastfeeding was protective. Children with Shigella were ill for a mean of four days and passed a mean of six stools per day. Common symptoms included fever (35%), vomiting (19%), and dehydration (16%). Dysentery, however, was unusual, occurring in only 11% of the cases. In conclusion, Shigella-associated diarrhea remains relatively common in Egyptian children and supports the need for additional control measures including vaccine development. PMID:15381821

Abu-Elyazeed, Remon R; Wierzba, Thomas F; Frenck, Robert W; Putnam, Shannon D; Rao, Malla R; Savarino, Stephen J; Kamal, Karim A; Peruski, Leonard F; Abd-El Messih, Ibrahim A; El-Alkamy, Sahar A; Naficy, Abdollah B; Clemens, John D

2004-09-01

363

Genetic Variability of Antigen B among Echinococcus granulosus Egyptian Isolates  

Science.gov (United States)

Genetic polymorphisms of encoding antigen B2 gene (AgB2) in Echinococcus granulosus were studied using PCR-RFLP and DNA sequencing among 20 Egyptian isolates. Five isolates from different host origins (humans, camels, pigs, and sheep) were collected and used. All examined isolates of each host group gave very similar patterns of PCR-RFLP after restriction enzyme digestion with AluI, with the gene size of approximately 140 bp and 240 bp for sheep and human isolates, and approximately 150 bp and 250 bp for pig and camel isolates. No digestion pattern was obtained after incubation of all studied isolates with EcoRI. These results reveal high intra-group homogeneity. DNA sequence analysis highlighted that human infecting strain showed 100% identity with respect to sheep infecting isolate, 96% and 99% with pig and camel infecting isolates, respectively. PMID:19724699

Tawfeek, Gihan M.; Awad, Nabil S.; El-Hoseiny, Laila; Thabet, Hala S.; Sarhan, Rania M.; Darweesh, Samar K.; Anwar, Wagida A.

2009-01-01

364

Characterization of Gamma-Irradiated Egyptian Wheat Flour  

International Nuclear Information System (INIS)

Physical, rheological and baking properties of bread Shamy, prepared from gamma-irradiated Egyptian wheat flour up to 25 KGy as one of common types of bread in Egypt, were studied and the acceptability of bread was evaluated by sensory tests. All amylo-, farino-, and extensograph characteristics and also sample ph showed significant decrease as irradiation dose increased. Such results could be explained in terms of loss of unique elastic and cohesive properties of wheat gluten and starch damage upon increment of radiation dose. The improvement in properties of bread, baked from flour irradiated up to 7.5 KGy, could be explained on the basis of a simulation in gas production during dough fermentation due to increase in starch degradation products. However, bread, prepared from wheat samples irradiated above 7.5 KGy, exhibited significantly lower values of acceptance because of physico-chemical changes in both starch and gluten

365

The Radial Structure of Some Middle Egyptian Prepositions  

DEFF Research Database (Denmark)

Prepositions are traditionally treated in dictionaries and grammars by giving a list of usages, often corresponding more or less to the way the preposition is translated in the language of the modern work. This paper suggests an alternative way of approaching prepositions, derived from cognitive linguistics where prepositions are regarded as categories centered on a salient prototype from which various peripheral members of the category are derived. This perspective has the advantage of presenting the meaning of each preposition as a unified category with a specific central meaning and various extensions, instead of merely listing a number of unrelated senses. It is argued that Middle Egyptian prepositions can fruitfully be studied in this framework, and the method is exemplified by examining the conceptual structure of the two frequent prepositions m and r.

Nyord, Rune

2010-01-01

366

Touch-free in situ investigation of ancient Egyptian pigments  

Science.gov (United States)

Some of the pigments painted on the Funerary Stele of Amenemhat (ca. 2000B.C.) exhibited at the Egyptian Museum, Cairo and on the walls of the Tomb of Userhat (ca. 1450B.C.), a rock-cut tomb in Thebes, Egypt, were investigated in situ using both a convenient home-made hand-held type of X-ray diffractometer and a commercial X-ray fluorescence spectrometer in a complementary way under touch-free conditions. CaCO3.3MgCO3 (huntite) was found in the white-painted parts of these two ancient monuments. An arsenic (As)-bearing phase was detected in the yellow-painted parts of the latter monument. The occurrence of huntite in Egypt has not been reported previously.

Uda, M.; Sassa, S.; Taniguchi, K.; Nomura, S.; Yoshimura, S.; Kondo, J.; Iskander, N.; Zaghloul, B.

367

Genetic Variation Among Egyptian Cultivars of Vicia faba L.  

Directory of Open Access Journals (Sweden)

Full Text Available Nine Egyptian cultivars of Vicia faba were analyzed using electrophoretic and quantitative data from seed albumins and globulins and 100 seeds weight to measure genetic variation among faba bean cultivars in Egypt. Wide genetic variation was indicated for all the traits studied. The elctrophoregrams showed identity profile for each cutivar supporting the validity of electrophoresis of seed protein components in cultivar identification and assessing genetic variation in Vicia faba and other out-breeding plants at the infra-specific level. Negative correlation was indicated between seed globulins and both seed albumins and seed weight. Princpal component analysis and cluster analyses indicated higher role of seed albumins over seed globulins in genetic variation within Vicia faba in Egypt.

Abd El-Zaher M.A. Mustafa

2007-01-01

368

Recovery of thorium and uranium from Egyptian monazite sands  

International Nuclear Information System (INIS)

This study is oriented towards the development of the alkali breakdown process to separate thorium and uranium from Egyptian monazite sands. The process consisted of: 1. Treatment of fine ground monazite sands with hot 50% caustic soda solution at ratio of 1.5:1 by weight. 2. Dilution of the reaction slurry with 6 times its weight with no water to dissolve the sodium phosphate formed. 3. Filtration of the reaction slurry to remove the solid hydrous metal oxides from the sodium phosphate and excess sodium hydroxide. 4. Dissolution of the rare earths by addition of 1:1 hydrochloric acid dropwise to an aqueous suspension of the hydrous oxides till pH value of 3. 5. Separation of thorium and uranium by filtration of the dissolved rare earths from the undissolved residue of the mixed hydrous oxides

369

The Reasons social media contributed to 2011 Egyptian Revolution  

Directory of Open Access Journals (Sweden)

Full Text Available In recent years, social media has become very significant for social networking. In the past, itsmain use was personal, but nowadays, its becoming part of all facets of our lives, social andpolitical. In the first quarter of 2011, the Middle East has witnessed many popular uprisings thathave yet to reach an end. While these uprisings have often been termed “FacebookRevolutions” or “Twitter Revolutions”, there are many ambiguities as to the extent to whichsocial media affected these movements. In this paper we discuss the role of social media andits impact on the 2011 Egyptian revolution. Though the reasons for the uprising were manifold,we will focus on how social media facilitated and accelerated the movement.

Rabia Minatullah Sohail, Nadine Chebib

2011-10-01

370

HOW EGYPTIAN CONTRACTING COMPANIES TRANSLATE PROJECTS' QUALITY TO PROJECTS' PERFORMANCE  

Directory of Open Access Journals (Sweden)

Full Text Available A model for continuous quality improvement for Egyptian contracting projects’ (CQIM is developed through the extensive reviewing of the Total Quality Management (TQM, Continuous Quality Improvement (CQIliterature, preceding researches, consensus opinions of managers and experts of the construction industry and the quality management system (ISO 9000. This model comprises of 13 main factors divided into 9 CQI constructs and 4 Indices, the Indices are broken down to 46 practical measures, while the CQI constructs are further divided into 58 sub-factors consisting of 231 practical requirements, all targeting the evaluation and improvement of the overall project performance (OPP . This model assists its users to assess their points of weaknesses and strengths, by setting-up a road map for improvement, utilizing a guided framework. This model is used as a benchmarking tool to achieve the goal of this research “Projects' Continuous Quality Improvement”.

Said SHAWKY HOZIEN

2011-07-01

371

Underuse of controller medications in Egyptian asthmatic children  

Directory of Open Access Journals (Sweden)

Full Text Available Background: International guidelines recommend daily use of controller medications for children with persistent asthma. Several studies from different regions of the world have reported low asthma control among children. Objectives: To assess the frequency of underuse of controller medications in Egyptian children and to clarify the causes and predictors for this underuse. Methods: This observational cross-sectional study was held over a 12-month-period in Zagazig University Hospitals, including 460 children with persistent asthma. All studied patients were submitted to careful history taking, proper medical examination and subsequent sharing, with their parents, in filling a previously designated Arabic asthma interview format concerning the disease course, medications, parents' beliefs about asthma, and causes of underuse. Results: Of 460 children who have persistent asthma, 84.4% were underusers of controller therapy, with 63.5% reporting no controller use at all and 21.3% reporting improper use. More than half of the studied patients received their medications in emergency department (52.8%, and follow up with a general practitioner (52.2% with less attendance to our outpatient asthma clinic (15.2%. The most important causes of underuse are non-prescription of controller drugs by managing physician (45% and financial cost (28%. Furthermore, predictors of this underuse include false beliefs about asthma (OR = 56.2; 95% CI: 13.5-232, P<0.05, negative family history of atopy (OR = 2.4; 95% CI: 1.10-5.18, P<0.05, younger age of the patients (P< 0.05, and general practitioner as the treating physician (OR = 3.5; 95% CI: 1.99-6.16, P<0.05. Conclusion: There is high frequency of underuse of controller medications among Egyptian asthmatic children. Non-prescription of controller medications by managing physician and financial cost remain the most important direct causes of underuse.

Osama Amer

2013-01-01

372

Progressive macular hypomelanosis among Egyptian patients: a clinicopathological study  

Science.gov (United States)

Background: Progressive macular hypomelanosis (PMH) is a disease of unclear etiology. Propionbacterium acnes (P. acnes) was claimed to be an etiological factor. Objectives: The purpose of this study was to document the clinicopathological features of PMH in Egyptian patients and to evaluate the therapeutic outcome. Methods: Patients with clinical features of PMH were recruited. Wood’s lamp examination, skin scrapings for fungi, and skin biopsy specimens were obtained. Biopsies were stained with hematoxylin and eosin, PAS, Fontana-Masson, and S100 protein. Patients received either narrow-band UVB (nbUVB) or nbUVB plus daily topical clindamycin 1% and benzoyl peroxide gel 5% (bcUVB). The period of active treatment was 14 weeks followed by a follow-up period of 24 weeks. Results: Twenty-nine patients were included. Microscopic evaluation of skin biopsy specimens showed no significant differences between lesional and normal skin. Fontana-Masson stained sections showed overall reduction of melanin granules in the basal layer of lesional skin only and S100 staining did not detect significant differences in the number of melanocytes in lesional and normal skin. Nearly complete repigmentation was reported in 10 patients treated with bcUVB compared to 9 patients treated with nbUVb with no significant differences between both groups after 14 weeks. Only 2 patients in each group retained the pigmentation and the remaining patients returned to the baseline color before treatment. Conclusions: This study documented the clinicopathological features of PMH among Egyptians. No permanently effective treatment is available. Further studies are needed to prove or disprove the pathogenic role of P. acnes in PMH. PMID:24396712

Selim, Mohamed Khaled; Ahmed, El-Shahat Farag; Abdelgawad, Mamdouh Morsy; El-Kamel, Mohammed Fawzy

2011-01-01

373

Patterns of seeking medical care among Egyptian breast cancer patients: relationship to late-stage presentation.  

Science.gov (United States)

Breast cancer is the most common cancer among Egyptian women, accounting for 37.6% of female tumors, and is often diagnosed at later stages. The objective of this study was to investigate breast cancer patient navigation through the health care system in the Nile Delta. Interviews were conducted with 163 newly diagnosed breast cancer patients at the Tanta Cancer Center (TCC), the major cancer center of the region. Patients described their medical care pathway from the initial symptom experienced until their arrival at TCC. Patients whose initial contact was with a general surgeon (OR: 7.6, 95% CI: 2.1, 27.6), primary care provider (OR: 12.2, 95% CI: 2.9, 51.0), or gynecologist (OR: 8.6, 95% CI: 1.4, 53.4) were significantly more likely to experience a delay in reaching the TCC as compared to those visiting a surgical oncologist. Overcoming health care system and patient navigation barriers in developing countries may reduce the time for breast cancer patients to reach a cancer center for early management. PMID:21807518

Mousa, Shimaa M; Seifeldin, Ibrahim A; Hablas, Ahmed; Elbana, Eman S; Soliman, Amr S

2011-12-01

374

Compensating Differentials and the Value of Job Security: Evidence from the Egyptian Public Sector  

Directory of Open Access Journals (Sweden)

Full Text Available This paper considers the determinants of male and female pay in the public and private sectors by estimating a joint model of sector allocation and wage determination using cross-sectional data from the Egyptian 1987 and 1997 labour force surveys. A model of compensating wage differentials is defined and estimated, in order to quantify the value of arguably the three most important non-pecuniary aspects of public sector employment: job security, fringe benefits (especially comprehensive retirement pensions