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1

Liver fibrosis in young Egyptian beta-thalassemia major patients: relation to hepatitis C virus and compliance with chelation.  

UK PubMed Central (United Kingdom)

BACKGROUND: The main causes of liver fibrosis in transfusion-dependent thalassemia major are hepatitis C virus (HCV) infection and hepatic iron overload. The study aimed to assess liver fibrosis in Egyptian adolescents and young adult poly-transfused beta thalassemia patients infected with HCV using liver FibroScan in relation to iron overload and Liver iron concentration (LIC). MATERIAL AND METHODS: Fifty-one regularly transfused beta thalassemia patients above 12 years old were subjected to measurement of serum alanine transaminase (ALT), serum ferritin (SF), HCV (antibody and RNA), LIC assessed by hepatic R2* and transient elastography (TE) (FibroScan). FibroTest and liver biopsy were done to 25 patients. RESULTS: Eighty two% of studied thalassemia patients were HCV antibody positive; 21(49%) of them were viremic (HCV RNA positive); median LIC was 12 mg/gm dry weight. There were strong positive correlation between the degree of liver stiffness and Ishak fibrosis score assessed in liver biopsy specimens (P = 0.002) and between FibroScan and FibroTest results (P < 0.001). Patients with HCV viremia showed significantly higher ALT, ?-glutamyl transpeptidase (GGT), SF, LIC and increased liver stiffness compared to patients with no viremia (P = 0.0001, 0.001, 0.012, 0.006 and 0.001) respectively. Liver cirrhosis (TE values > 12.5kPa) was encountered in 23.5% and variable degrees of liver fibrosis (TE values > 6-12.5 kPa) in 35% of studied thalassemic patients. CONCLUSION: Young beta thalassemia patients with active hepatitis C infection may have hepatic cirrhosis or fibrosis at young age when accompanied with hepatic siderosis. Non invasive Liver FibroScan and Fibro-Test were reliable methods to assess liver fibrosis in young thalassemic-patients.

Elalfy MS; Esmat G; Matter RM; Abdel Aziz HE; Massoud WA

2013-01-01

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[Dermatoglyphics in beta-thalassemia major  

UK PubMed Central (United Kingdom)

The features of dermatoglyphics in 39 children with beta-thalassemia major and in 47 their parents are studied. The control were 70 healthy children. The patients with beta-thalassemia had more often the prevailence of whorls over other finger patterns. There was an increase of the "atd" angle and some increase in the ridge of counts. Parents had also an increase of the amount of whorls, but this increase was less pronounced than under beta-thalassemia. The changes of the dermatoglyphics in parents of children affected with beta-thalassemia major are suggested to ba a phenotypic feature of heterozygous carrier of the mutant gene.

Mutalimova AB; Kurdiumova TIu

1975-01-01

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Portal vein thrombosis after splenectomy for beta-thalassemia major.  

UK PubMed Central (United Kingdom)

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.

Al-Hawsawi ZM; Haouimi AS; Hassan RA; Tarawah AM

2004-02-01

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Malocclusion in subjects with beta-thalassemia major  

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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; M. Eslami; M. H. Ferhvesh

2007-01-01

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Scintigraphic evaluation of bone involvement in Beta Thalassemia major.  

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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.; Hidalgo, Pablo M.D.

2000-01-01

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Skin diseases in patients with beta-thalassemia major.  

UK PubMed Central (United Kingdom)

BACKGROUND: Beta-thalassemia major affects multiple organs and is associated with considerable morbidity and mortality. The goal of this analysis was to document the frequency of skin diseases among patients with beta-thalassemia major. METHODS: A sample of 78 patients with beta-thalassemia major was recruited and interviewed at the thalassemia clinic between April and June 2008. A dermatologist completed a skin examination of each patient and recorded any skin disease present. The patients' laboratory results and treatment modalities were recorded from the charts. RESULTS: Sixty-five (83.3%) of the 78 patients examined had a diagnosed skin disease: pruritus (37.2%), xerosis (34.6%), scars (24.4%), ephelides (23.1%), skin irritation/erythema caused by deferoxamine pump (12.8%), idiopathic guttate hypomelanosis (6.4%), pityriasis alba (6.4%), tinea infections (5.1%), verruca vulgaris (5.1%), urticaria (3.8%), hyperhidrosis, contact dermatitis, and acne (2.6%), necrobiosis lipoidica (1.3%), melasma (1.3%), and others (14.1%). Pruritus and xerosis increased in frequency with age. The mean serum ferritin level was higher in patients with xerosis than in those without (5607.7 +/- 2997.5 ng/mL and 4285.2 +/- 4732.4 ng/mL, respectively) (P1/4 0.005). Moreover, xerosis was observed significantly more frequently inpatients using deferoxamine and deferiprone than in those using deferasirox (P1/4 0.047, P1/4 0.027, and P1/4 0.273, respectively). CONCLUSION: Skin diseases, especially pruritus and xerosis, are observed highly frequently inpatients with beta-thalassemia major. Treatment is needed for these patients who already have other significant morbidities.

Dogramaci AC; Savas N; Ozer B; Duran N

2009-10-01

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Right ventricular cardiac dysfunction in beta-thalassemia major.  

UK PubMed Central (United Kingdom)

In patients with iron overload associated with severe, transfusion-dependent beta-thalassemia, congestive heart failure develops during the second decade of life. Biventricular heart function was studied by multigated radionuclide angiography in 22 patients with beta-thalassemia major. Six patients were symptomatic. Congestive heart failure developed in five patients at the time of blood transfusions, and one other patient had been treated for multiple ventricular extrasystole. The mean (+/- SD) left ventricular ejection fraction was normal (63.0% +/- 7.6%). Only one patient had a left ventricular ejection fraction under the normal level (less than 50%). The mean (+/- SD) right ventricular fraction (RVEF) was 33.3% +/- 9.4%. In only three patients was the RVEF normal (greater than or equal to 40%); an RVEF under 30% was registered in six patients. We suggest that the early right ventricular dysfunction in patients with beta-thalassemia may be due to pulmonary hypertension secondary to iron overload and iron deposits in the ventricles.

Koren A; Garty I; Antonelli D; Katzuni E

1987-01-01

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Right ventricular cardiac dysfunction in beta-thalassemia major.  

Science.gov (United States)

In patients with iron overload associated with severe, transfusion-dependent beta-thalassemia, congestive heart failure develops during the second decade of life. Biventricular heart function was studied by multigated radionuclide angiography in 22 patients with beta-thalassemia major. Six patients were symptomatic. Congestive heart failure developed in five patients at the time of blood transfusions, and one other patient had been treated for multiple ventricular extrasystole. The mean (+/- SD) left ventricular ejection fraction was normal (63.0% +/- 7.6%). Only one patient had a left ventricular ejection fraction under the normal level (less than 50%). The mean (+/- SD) right ventricular fraction (RVEF) was 33.3% +/- 9.4%. In only three patients was the RVEF normal (greater than or equal to 40%); an RVEF under 30% was registered in six patients. We suggest that the early right ventricular dysfunction in patients with beta-thalassemia may be due to pulmonary hypertension secondary to iron overload and iron deposits in the ventricles. PMID:3788890

Koren, A; Garty, I; Antonelli, D; Katzuni, E

1987-01-01

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Serum Folate Levels in Major Beta Thalassemia Patients  

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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.

Bibi Shahin Shamsian; Mohadeseh Azadvari; Mohammad Taghi Arzanian; Ahmadreza Shamshiri; Samin Alavi; Omid Khojasteh

2008-01-01

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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)

2010-01-01

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Major causes of hospital admission in Beta thalassemia major patients in southern iran.  

UK PubMed Central (United Kingdom)

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.

Karimi M; Emadmarvasti V; Hoseini J; Shoja L

2011-12-01

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

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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 atte...

Abdelhadi M. Habeb; Zakaria M. Al-Hawsawi; Mohamed M. Morsy; Abdallah M. Al-Harbi; Adnan S. Osilan; Mohamed S. Al-Magamsi

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Dermatoglyphs in patients with beta-thalassemia major and their thalassemia carrier parents.  

UK PubMed Central (United Kingdom)

Dermatoglyphs are cutaneous ridges on the fingers, palms, and soles, formed during early intrauterine life. During this period, and only then, genetic and environmental factors can influence their formation. Beta-thalassemia major is an genetic disease. The aim of the present work was to analyze dermatoglyphs traits in subjects with beta-thalassemia major and their thalassemia carrier parents. The sample included 59 patients with beta-thalassemia major (39 males, 20 females). We also analyzed a total of 61 thalassemia carrier parents. There were 38 mothers and 23 fathers in the study. The control group comprised 120 healthy subjects (64 men, 56 women). All ten fingers and right hand palm prints of all participants were taken and statistically analyzed. The results of analyses showed that the frequency of loops on the fifth finger of left hand was significantly higher in female patients than that of carriers and controls (p < 0.05). It was also significantly higher in female patients than that male patients (p = 0.03). The increase in mean c-d ridge count was noticed in female patients only (p = 0.04) compared to carriers and controls. In addition to that there was also differences according to the mean c-d ridge count between female and male patients (p = 0.01). Our study showed that dermatoglyphs were helpful for the diagnosis of beta-thalassemia major. However, it does not help to detect thalassemia carriers. This study is the comprehensive dermatoglyphic research on thalassemia, and its dermatoglyphic data will be useful for future research in genetics and medicine.

Dogramaci AC; Savas N; Bagriacik MA

2009-06-01

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Transcranial Doppler Ultrasonography in Beta-thalassemia Major Patients Without and With Thrombocytosis  

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Background Beta-thalassemia is a type of anemia in which the patients may require splenectomy and this can lead to thrombocytosis with increased risk of stroke. Transcranial Doppler ultrasound is a method for determining cerebral vessel stenosis. Objectives The aim of this study was to investigate whether the risk of a future stroke secondary to cerebral artery stenosis can be predicted with the use of transcranial Doppler ultrasound in beta-thalassemia major patients. Patients and Methods This study included 54 beta-thalassemia major patients divided into 2 groups; group A consisted of 28 patients who have thrombocytosis secondary to a previous splenectomy and group B comprised of 26 patients who did not have a splenectomy with normal platelet count, as well as a control group of 30 healthy individuals. Results Transcranial Doppler ultrasound of the cerebral vessels were performed in all participants, and the results for each group were compared with the controls. In addition, patients were evaluated for evidence of high flow velocity in the cerebral vessels that met the clinically significant criteria of ? 50% stenosis. Transcranial Doppler ultrasound velocity criteria for > 50% stenosis, indicating a risk of stroke, were not documented in any patients but increase in cerebral blood velocities in many arteries in group A and in some arteries in group B were revealed. Conclusion Following splenectomy, thrombocytosis can predispose the patients to an increase in cerebral blood velocities more than respected with anemia. But by transcranial doppler ultrasonography no evidence of significant stenosis were found in intracerebral arteries to conclude that the beta-thalassemia major patients were more prone to the development of stroke secondary to this abnormality.

Shariat, Abdolhamid; Nazeri, Masoume; Abolhasani Foroughi, Amin; Karimi, Mehran

2013-01-01

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Transcranial Doppler Ultrasonography in Beta-thalassemia Major Patients Without and With Thrombocytosis.  

UK PubMed Central (United Kingdom)

BACKGROUND: Beta-thalassemia is a type of anemia in which the patients may require splenectomy and this can lead to thrombocytosis with increased risk of stroke. Transcranial Doppler ultrasound is a method for determining cerebral vessel stenosis. OBJECTIVES: The aim of this study was to investigate whether the risk of a future stroke secondary to cerebral artery stenosis can be predicted with the use of transcranial Doppler ultrasound in beta-thalassemia major patients. PATIENTS AND METHODS: This study included 54 beta-thalassemia major patients divided into 2 groups; group A consisted of 28 patients who have thrombocytosis secondary to a previous splenectomy and group B comprised of 26 patients who did not have a splenectomy with normal platelet count, as well as a control group of 30 healthy individuals. RESULTS: Transcranial Doppler ultrasound of the cerebral vessels were performed in all participants, and the results for each group were compared with the controls. In addition, patients were evaluated for evidence of high flow velocity in the cerebral vessels that met the clinically significant criteria of ? 50% stenosis. Transcranial Doppler ultrasound velocity criteria for > 50% stenosis, indicating a risk of stroke, were not documented in any patients but increase in cerebral blood velocities in many arteries in group A and in some arteries in group B were revealed. CONCLUSION: Following splenectomy, thrombocytosis can predispose the patients to an increase in cerebral blood velocities more than respected with anemia. But by transcranial doppler ultrasonography no evidence of significant stenosis were found in intracerebral arteries to conclude that the beta-thalassemia major patients were more prone to the development of stroke secondary to this abnormality.

Shariat A; Nazeri M; Abolhasani Foroughi A; Karimi M

2013-03-01

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

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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 Gözü Pirinççio?lu; Turgay Deniz; Deniz Gökalp; Nurcan Beyaz?t; Kenan Haspolat; Murat Söker

2011-01-01

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The Effect of HFE Polymorphisms on Cardiac Iron Overload in Patients with Beta-Thalassemia Major.  

UK PubMed Central (United Kingdom)

Objective: We aimed to investigate the effect of human hemochromatosis protein (HFE) polymorphisms on cardiac iron overload in patients with beta-thalassemia major. Methods: Our study included 33 patients diagnosed with beta-thalassemia major who were treated with regular transfusions and chelation therapy. M-mode, tissue Doppler, and pulsed wave Doppler echocardiography were performed on all patients. T2* magnetic resonance imaging (MRI) scans were also performed. The HFE polymorphisms (H63D, C282Y, S65C, Q283P, E168Q, E168X, W169X, P160delC, Q127H, H63H, V59M, and V53M) were studied using polymerase chain reaction. Results: The H63D polymorphism was detected in six patients with beta-thalassemia major. Five patients were heterozygous for the H63D polymorphism, while one was homozygous. There were no other polymorphisms. There was no relationship between the HFE polymorphisms and either the serum ferritin levels or the T2-weighted MRI values (P > .05). Moreover, conventional echo and tissue Doppler echo findings were not correlated with the HFE polymorphisms. Pulmonary vein atrial reversal flow velocity, which is a manifestation of diastolic dysfunction measured with pulse wave echo, was higher in the patients with HFE polymorphisms (P = .036). Conclusions: The HFE polymorphisms had no effect on cardiac iron overload. However, pulmonary vein atrial reversal flow velocity measurements can provide important information for detecting diastolic dysfunction during cardiac follow-up of patients with HFE polymorphisms. Studies with more patients are needed to provide more information regarding this matter.

Turedi A; Oymak Y; Me?e T; Yaman Y; Bayraktaroglu S; Alpman A; Ozkinay F; Ayd?nok Y; Vergin C

2013-10-01

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

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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; Nakysa Hooman; Khadijeh Arjmandi-Rafsanjani; Roya Isa-Tafreshi

2013-01-01

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The Effect of HFE Polymorphisms on Cardiac Iron Overload in Patients with Beta-Thalassemia Major.  

Science.gov (United States)

Objective: We aimed to investigate the effect of human hemochromatosis protein (HFE) polymorphisms on cardiac iron overload in patients with beta-thalassemia major. Methods: Our study included 33 patients diagnosed with beta-thalassemia major who were treated with regular transfusions and chelation therapy. M-mode, tissue Doppler, and pulsed wave Doppler echocardiography were performed on all patients. T2* magnetic resonance imaging (MRI) scans were also performed. The HFE polymorphisms (H63D, C282Y, S65C, Q283P, E168Q, E168X, W169X, P160delC, Q127H, H63H, V59M, and V53M) were studied using polymerase chain reaction. Results: The H63D polymorphism was detected in six patients with beta-thalassemia major. Five patients were heterozygous for the H63D polymorphism, while one was homozygous. There were no other polymorphisms. There was no relationship between the HFE polymorphisms and either the serum ferritin levels or the T2-weighted MRI values (P > .05). Moreover, conventional echo and tissue Doppler echo findings were not correlated with the HFE polymorphisms. Pulmonary vein atrial reversal flow velocity, which is a manifestation of diastolic dysfunction measured with pulse wave echo, was higher in the patients with HFE polymorphisms (P = .036). Conclusions: The HFE polymorphisms had no effect on cardiac iron overload. However, pulmonary vein atrial reversal flow velocity measurements can provide important information for detecting diastolic dysfunction during cardiac follow-up of patients with HFE polymorphisms. Studies with more patients are needed to provide more information regarding this matter. PMID:24087894

Turedi, Aysen; Oymak, Yesim; Me?e, Timur; Yaman, Yöntem; Bayraktaroglu, Selen; Alpman, Asude; Ozkinay, Ferda; Ayd?nok, Ye?im; Vergin, Canan

2013-10-02

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

International Nuclear Information System (INIS)

[en] 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

2010-01-01

 
 
 
 
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Zinc and Copper Status in Children with Beta-Thalassemia Major  

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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.

Abolfazl Mahyar; Parviz Ayazi; Ali-Asghar Pahlevan; Hoshyar Mojabi; Mohammad-Reza Sehhat; Amir Javadi

2010-01-01

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Zinc and Copper Status in Children with Beta-Thalassemia Major  

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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; Parviz Ayazi; Ali-Asghar Pahlevan; Hoshyar Mojabi; Mohammad-Reza Sehhat; Amir Javadi

2010-01-01

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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.

2009-01-01

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

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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.

Hashemizadeh H; Noori R

2012-01-01

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Major beta-thalassemia, use of desferiexamine and renal proximal tubular damage.  

UK PubMed Central (United Kingdom)

BACKGROUND AND PURPOSE: Thalassemia is a quantitative hereditary hemoglobinopathy, which is one of common hereditary diseases in the Mediterranean region including Iran. Homozygotic beta-thalassemia patients have manifestations and complications such as severe anemia and multiorgan dysfunction. Recently there have been some concerns about renal complications in â-thalassemia but some controversies have been demonstrated. The aim of this study was to investigate the renal function of major â-thalassemia patients in comparison with control group. METHODS AND MATERIALS: This was a historical cohort. Study population consisted of major beta-thalassemia patients who were under a management plan of thalassemia ward of Bo Ali sina hospital sari, IRAN (case group ) and uninvolved brothers or sisters of the patients (the control group). Two groups (case and control) were matched. Renal function of patients was investigated by measurement of renal and serum markers. Demographic and therapeutic data of patients were extracted from medical records. The data were analyzed using SPSS 11. FINDINGS: Eighty-four samples were studied in total, while 42 of them were from the case group and the rest from the control group. The case and control groups were matched according to gender and age. Mean age of patients was 21.3 +/- 5.2 years. Desferiexamin was dosed in amount of 70 +/- 19 mg/kg. There was no significant difference in the measures of 24-hour urine protein (beta-2 microglobin and fraction excretion of Na and K between case and control groups. Significant differences were however in the measures of Bun serum and creatinin as well as K (from both urine and serum). Gender, Hb, and level of ferritin related significantly with differences. CONCLUSION: This study demonstrates no evidence of proximal tubular damage in major â-thalassemia patients. Nevertheless, the patients with severe anemia, high dose of desferal and high level of ferritin yielded an increase in the levels of Bun, serum K, and in some cases in uric acid (Tab. 4, Ref. 33).

Jafari HM; Vahidshahi K; Kosaryan M; Karami H; Reza Mahdavi M; Ehteshami S

2011-01-01

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

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[en] 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)

2004-01-01

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

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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; Mehran Karimi; Seyed-Taghi Heydari; Mahmoud Shishegar; Masoud Kaviani

2010-01-01

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

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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.; ? H. Khani, M.D; A.R. Khalilian, Ph.D; K. Vahidshahi, M.D.

2007-01-01

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Beta thalassemia major in a developing country: epidemiological, clinical and evolutionary aspects.  

UK PubMed Central (United Kingdom)

Beta-thalassemia major (TM) remains to be one of the major health problems particularly in developing countries. Tunisia is a part of the Mediterranean countries mostly affected by this disease which is highly concentrated in small towns in families with low-income earners. The main objectives of this study are to provide a description of the demographic, clinical features and transfusion-related complications in patients with TM living in Tunisia. A standardized questionnaire was sent to clinicians throughout 33 different medical institutions caring for thalassemic patients. 391 transfusion dependant thalassemic patients with a median age of 10.7 years (range 3 months- 31 years) were included in the study. The majority originated from the north west of the country. A moderate iron overload between 1501 and 2500 ng/ml was found in 61patients, while 81 patients (26.9%) had a ferritin level more than 2500 ng/ml and greater than 5000ng/ml in 21 patients (6.9%). 51 patients died from complications related to their disease. Heart failure was the main cause of death. The incidence of cardiac, endocrine, and infectious complications will be reviewed. Preventive measures such as health education, carrier screening and premarital screening remain the best ways for lowering the incidence of these diseases, which might be reflected in financial saving, social s and health benefits.

Bejaoui M; Guirat N

2013-01-01

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

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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; A Sh. Kosarian

2007-01-01

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

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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.

Majid Naderi; Mohammad Reza Hormozi; Morteza Ashrafi; Abolfazl Emamdadi

2012-01-01

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Prevalence of Heart Failure in the Cases of Beta-thalassemia Major; Two Years Follow-Up  

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Full Text Available Inroduction: Heart failure (HF) is an important cause of morbidity and mortality in the cases of Beta-thalassemia major. The purpose of this study was to estimate HF prevalence in these patients and to assess the survivability of those who were treated with intensive chelating therapy. Design and methods: This cross sectional study included 72 beta-thalassemia major cases, the mean age at the time of referral was 15.7±6.2 years (range 6-35 years) and were followed in a prospective 2 year study. A self-reporting symptom questionnaire was administered, a 12-lead ECG was taken and an echocardiography was obtained from all participants. Echocardiography was performed at 6 month intervals or when a new symptom developed. Results: Risk factors (except for iron overload) in the study population were hypothyroidism and diabetes mellitus. The male to female ratio was0.75.Twelve patients had left ventricular (LV) systolic dysfunction and 57,79% had LV diastolic dysfunction whereas 11,15% had RV failure. Fifty-nine (81%) patients had cardiac disease of which diastolic dysfunction was the most common manifestation .Those with systolic dysfunction were older at presentation (22 ± 6 years versus 31 ± 4 years; P <0.001), and had the highest mean serum ferritin level (3,355 ± 1241 ng/mL versus 6,397 ± 1,613 ng/mL; P <0.001). The 2 year survival rate in patients with beta thalassemia in this study was 98%. Conclusions: Diastolic dysfunction is highly prevalent in even asymptomatic beta-thalassemia major patients. The high prevalence of diastolic dysfunction is indicative of a significant amount of the population who are at a high risk for HF

Atooshe Rohani; Vahid Akbari; Mehdi Moradipoor; Mehdi Akbartabar

2013-01-01

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Efficacy of Chicory in Decreasing Serum Ferritin and Liver Enzymes in Major Beta Thalassemia Patients  

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Full Text Available AbstractObjectiveThalassemia major is a severe transfusion-dependent anemia that needs iron chalation therapy to remove iron overload. The objectives of the present study were to assess the iron overload liver response to inulin of chicory supplementation by evaluating the serum ferritin and liver enzymes.MethodsAmong 70 beta thalassemia patients, 50 were selected for chelating therapy using inulin of chicory. The initial dose was 1gr given twice a day. Twenty patients were excluded because of Hepatitis B and C and cardiac heart failure.ResultsFrom 50 patients, 47 patients tolerated chicory, which the majority showed dramatic responses. Mean serum ferritin level decreased from 3563.09 ng/ml to 1728.54 ng/ml. Mean serum AST level decreased from 25.44 u/lit to 22.25 u/lit. Mean serum ALT level decreased from 30 .861u/lit to 25.085u/iit. Serum ferritin level decreased significantly after treatment (PV? 0.00), but there was no significant difference in AST (PV=0.379) and Alt (0.367) after chicory treatment.ConclusionThe present results suggest that chicory can reduce iron over load and liver enzymes. Significant differences in serum ferritin were found during intervention, but not in LFT enzymes.

Shahvazian N; Hashemi A; Shakiba M; Farahzadi MH; Mahmoodabadi F

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[Pretreatment doses of antithymocyte globubin-fresenius for allogeneic hematopoietic stem cell transplantation for beta-thalassemia major].  

UK PubMed Central (United Kingdom)

OBJECTIVE: To investigate the effects of different doses of antithymocyte globubin-fresenius (ATG-F) for allogeneic hematopoietic stem cell transplantation (allo-HSCT) in patients with beta-thalassemia Major. METHODS: Sixty-four children with beta-thalassemia major undergoing allo-HSCT were divided into two equal groups to receive ATG-F pretreatments at high (30 mg/kg) or low (15 mg/kg) doses as part of the conditioning regimen including mainly cyclophosphamide, busulfan, fludarabine, and thiotepa. The outcomes of the patients were compared between the two groups. RESULTS: No obvious difference were noted in the time to leukocyte and platelet engraftment between the two groups. The incidence of grade II-IV acute graft-versus-host disease (aGVHD) appeared to be higher in the low-dose group than in the high-dose group (12.5% vs 9.4%). The incidence of grade III-IV aGVHD was also higher in the low dose group (12.5% vs 6.3%), but the difference was not statistically significant. Application of high-dose ATG-F was associated with a higher rate of probable and possible fungal infection (P<0.05). CONCLUSION: The two doses of ATG-F is feasible as a part of the conditioning regimen for allo-HSCT in children with beta-thalassemia major.

Li C; Wang Y; Wu X; Pei F; He Y; Feng X; Liu H

2012-05-01

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

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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.

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

2013-01-01

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

UK PubMed Central (United Kingdom)

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.

Al-Khabori M; Bhandari S; Al-Huneini M; Al-Farsi K; Panjwani V; Daar S

2013-03-01

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

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

2013-01-01

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Thyroid Function Status and Echocardiographic Abnormalities in Patients with Beta Thalassemia Major in Bahrain  

Science.gov (United States)

Background: Thyroid gland dysfunction and echocardiographic cardiac abnormalities are well-documented in patients with transfusion dependent beta-thalassemia major (?-TM). Aim: This cross-sectional analytic study was conducted to investigate left ventricle (LV) diastolic and systolic function using pulsed Doppler (PD) and tissue Doppler (TD) echocardiography and correlate that with serum level thyroid stimulating hormone in patients with ?-TM. Methods: The study was conducted on patients with ?-TM (n = 110, age 15.9 ± 8.9 years) and compared with a control group (n = 109, age 15.8 ± 8.9 years). In all participants, echocardiographic indices of PD and TD were performed and blood samples were withdrawn for measuring the serum level of TSH, free T4, and ferritin. A linear regression analysis was performed on TSH level as the dependent variable and serum ferritin as independent. Stepwise multiple regression analysis was used to determine the odds ratio of different biochemical and echo variables on the risk of developing hypothyroidism. Results: Patients with ?-TM compared with controls had thicker LV septal wall index (0.65 ± 0.26 vs. 0.44 ± 0.21 cm/M2, P subclinical hypothyroidism in patients with ?-TM was 15.4%, with significantly higher mean serum TSH compared with controls (6.78 ± 1.5 vs. 3.10 ± 1.02 ?IU/mL, P subclinical hypothyroidism of 15.4%. Thyroid stimulating hormone was significantly high and positively correlated with the serum ferritin level. Echo cardiographic pulsed Doppler showed a restrictive LV diastolic pattern suggestive of severe diastolic dysfunction with preserved left ventricle systolic function.

Garadah, Taysir S.; Mahdi, Najat A.; Jaradat, Ahmed M.; Hasan, Zuheir A.; Nagalla, Das S.

2013-01-01

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Posttransplant oral iron-chelating therapy in patients with beta-thalassemia major.  

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Allogeneic hematopoetic stem cell transplantation (HSCT) is the only radical cure of beta-thalassemia. However, iron overload remains a cause of morbidity and mortality in posttransplant period. The authors present 7 patients as a preliminary report who underwent bone marrow transplant (BMT) and received oral chelating therapy (deferasirox) because of poor compliance to phlebotomy and desferrioxamine. The patients investigated mainly for possible side effects of deferasirox. No negative effect was seen in aspartate aminotransferase (AST), alanine aminotransferase (ALT), hemoglobin (Hb), and donor chimerism of the patients while serum ferritin levels significantly reduced (P = .018). Although serum creatinin significantly increased (P = .034), it was in normal limits in all patients. The authors believe that this report shows promising findings to plan further studies to clarify clinical safety and efficacy of deferasirox in posttransplant period. PMID:20604682

Yesilipek, M Akif; Karasu, Gulsun; Kazik, Mediha; Uygun, Vedat; Ozturk, Zeynep

2010-08-01

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Posttransplant oral iron-chelating therapy in patients with beta-thalassemia major.  

UK PubMed Central (United Kingdom)

Allogeneic hematopoetic stem cell transplantation (HSCT) is the only radical cure of beta-thalassemia. However, iron overload remains a cause of morbidity and mortality in posttransplant period. The authors present 7 patients as a preliminary report who underwent bone marrow transplant (BMT) and received oral chelating therapy (deferasirox) because of poor compliance to phlebotomy and desferrioxamine. The patients investigated mainly for possible side effects of deferasirox. No negative effect was seen in aspartate aminotransferase (AST), alanine aminotransferase (ALT), hemoglobin (Hb), and donor chimerism of the patients while serum ferritin levels significantly reduced (P = .018). Although serum creatinin significantly increased (P = .034), it was in normal limits in all patients. The authors believe that this report shows promising findings to plan further studies to clarify clinical safety and efficacy of deferasirox in posttransplant period.

Yesilipek MA; Karasu G; Kazik M; Uygun V; Ozturk Z

2010-08-01

 
 
 
 
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French multicenter 22-year experience in stem cell transplantation for beta-thalassemia major: lessons and future directions.  

UK PubMed Central (United Kingdom)

Although hematopoietic stem cell transplantation (HSCT) offers curative potential for beta-thalassemia major (beta-TM), it is associated with a variable but significant incidence of graft rejection. We studied the French national experience for improvement over time and the potential benefit of antithymocyte globulin (ATG). Between December 1985 and December 2007, 108 patients with beta-TM underwent HSCT in 21 different French transplantation centers. The majority of patients received a matched sibling transplant (n = 96) and a busulfan- and cyclophosphamide-based conditioning regimen (n = 95), also with ATG in 57 cases. Ninety-five of the 108 patients survived, with a median follow-up of 12 years. Probabilities of 15-year survival and thalassemia-free survival after first HSCT were 86.8% and 69.4%, respectively. Graft failure occurred in 24 patients, 11 of whom underwent a second HSCT. The use of ATG was associated with a decrease in rejection rate from 35% to 10%. Thalassemia-free survival improved significantly with time, reaching 83% in the 54 patients undergoing HSCT after 1994 (median time of HSCT). In view of the increased risk of graft rejection after matched sibling HSCT, current French national guidelines recommend, for all children at risk for beta-TM, the systematic addition of ATG to the myeloablative conditioning regimen and special attention to optimize transfusion and chelation therapy in the pretransplantation period.

Galambrun C; Pondarré C; Bertrand Y; Loundou A; Bordigoni P; Frange P; Lutz P; Mialou V; Rubie H; Socié G; Schneider P; Bernaudin F; Paillard C; Michel G; Badens C; Thuret I

2013-01-01

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

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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

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Beta-thalassemia  

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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.

Galanello Renzo; Origa Raffaella

2010-01-01

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

UK PubMed Central (United Kingdom)

OBJECTIVE: 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.

Habeb AM; Al-Hawsawi ZM; Morsy MM; Al-Harbi AM; Osilan AS; Al-Magamsi MS; Zolaly MA

2013-01-01

45

Comparative evaluation of renal findings in Beta-thalassemia major and intermedia.  

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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 > 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 hyperuricosuria. PMID:18310868

Ali, Derakhshan; Mehran, Karimi; Moghaddam, Abdolkarim Ghadimi

2008-03-01

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

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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; Mehrnoosh Kowsarian; Rozita Jalalian; Shahram akhlaghpoor; Mehdi Taremi

2009-01-01

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

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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 creatinin...

Ali Derakhshan; Mehran Karimi; Moghaddam Abdolkarim

48

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

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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; Ali Shahriari Ahmadi; Kaveh Mousavi kani

2011-01-01

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

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[en] 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)

2012-01-01

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Effects of micro environmental factors on natural killer activity (NK) of beta thalassemia major patients.  

UK PubMed Central (United Kingdom)

The physiological mechanisms of decreased NK activity of ?-Thalassemia major (BTM) patients are unknown. To assess in vitro effects of mononuclear cells and their cytokine secretion on NK activity, we compared activator receptor levels and cytotoxic activity of purified NK cells and NK cells in mononuclear cells (MNC) pools. We collected cell supernatant from unincubated and incubated MNC with K562 cells and measured their secreted cytokines levels. CD16 was lower on the surface of NK cells in MNC pools from BTM patients compared to healthy volunteers. This inhibition does not appear when NK cells were purified. NKp30 levels in NK cells decreased both as purified cells and as part of a pool of MNC in BTM patients. After incubation of MNC pools with K562 target cells, we found that supernatant levels of IL10, TGF?1 and IL15 cytokines were also significantly higher in BTM patients compared to healthy volunteers.

Atasever Arslan B; Erdem-Kuruca S; Karakas Z; Erman B; Ergen A

2013-04-01

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Effects of micro environmental factors on natural killer activity (NK) of beta thalassemia major patients.  

Science.gov (United States)

The physiological mechanisms of decreased NK activity of ?-Thalassemia major (BTM) patients are unknown. To assess in vitro effects of mononuclear cells and their cytokine secretion on NK activity, we compared activator receptor levels and cytotoxic activity of purified NK cells and NK cells in mononuclear cells (MNC) pools. We collected cell supernatant from unincubated and incubated MNC with K562 cells and measured their secreted cytokines levels. CD16 was lower on the surface of NK cells in MNC pools from BTM patients compared to healthy volunteers. This inhibition does not appear when NK cells were purified. NKp30 levels in NK cells decreased both as purified cells and as part of a pool of MNC in BTM patients. After incubation of MNC pools with K562 target cells, we found that supernatant levels of IL10, TGF?1 and IL15 cytokines were also significantly higher in BTM patients compared to healthy volunteers. PMID:23770717

Atasever Arslan, Belkis; Erdem-Kuruca, Serap; Karakas, Zeynep; Erman, Batu; Ergen, Arzu

2013-05-04

52

International survey of T2* cardiovascular magnetic resonance in beta thalassemia major.  

UK PubMed Central (United Kingdom)

ABSTRACT Accumulation of myocardial iron is the cause of heart failure and early death in most transfused thalassemia major patients. T2* cardiovascular magnetic resonance provides calibrated, reproducible measurements of myocardial iron. However, there is little data regarding myocardial iron loading and its relation to outcome across the world. A survey is reported of 3,095 patients in 27 worldwide centres using T2* cardiovascular magnetic resonance. Data on baseline T2* and numbers of patients with symptoms of heart failure at first scan (defined as symptoms and signs of heart failure with objective evidence of left ventricular dysfunction) were requested together with more detailed information about patients who subsequently developed heart failure or died. At first scan, 20.6% had severe myocardial iron (T2*?10ms), 22.8% had moderate myocardial iron (T2* 10-20ms) and 56.6% of patients had no iron loading (T2*>20ms). There was significant geographic variation in myocardial iron loading (24.8-52.6%, p<0.001). At first scan, 85 (2.9%) of 2,915 patients were reported to have heart failure (81.2% had T2* <10ms; 98.8% had T2* <20ms). During follow-up, 108 (3.8%) of 2,830 patients developed new heart failure. Of these, T2* at first scan had been <10ms in 96.3% and <20ms in 100%. There were 35 (1.1%) cardiac deaths. Of these patients, myocardial T2* at first scan had been <10ms in 85.7% and <20ms in 97.1%. Therefore, in this worldwide cohort of thalassemia major patients, >43% had moderate/severe myocardial iron loading with significant geographic differences, and myocardial T2* values <10ms were strongly associated with heart failure and death.

Carpenter JP; Roughton M; Pennell DJ

2013-06-01

53

Cross-Talk between Available Guidelines for the Management of Patients with Beta-Thalassemia Major.  

UK PubMed Central (United Kingdom)

Efforts to optimize the management of patients with ?-thalassemia major (TM) continue to expand. Evidence from biomedical research evaluating safe and careful processing measures of blood products, the efficacy and safety of oral iron chelators, and noninvasive techniques for the assessment of iron overload are translated into better patient outcomes. The construction of TM management guidelines facilitated the incorporation of such evidence into practice. However, as several aspects of the management of TM remain controversial or governed by resource availability, a concern regarding potential variations in recommendations made by the different guidelines becomes rational, especially for physicians treating TM patients outside countries where the guidelines were constructed. In this work, we overview currently available guidelines for the management of TM and explore apparent similarities and differences between them. The evaluated guidelines included the Thalassaemia International Federation, US, Canadian, UK, Italian and Australian guidelines. We noted a general consensus for most aspects of management, although some guidelines provided more comprehensive and contemporary recommendations than others. We did not identify differences warranting concern, although minor differences in iron overload assessment strategy and more notable variations in the recommendations for iron chelation therapy were observed.

Musallam KM; Angastiniotis M; Eleftheriou A; Porter JB

2013-01-01

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beta+-Thalassemia intermedia with low HbF.  

Science.gov (United States)

Two cases of homozygous beta+-thalassemia intermedia have been detected in a Brazilian family of Portuguese and German extraction. The patients are 39 and 43 years old, showed a normal somatic and sexual development and had been transfused only occasionally. Red blood cell morphology was similar to that of thalassemia major, but they had unusually low levels of HbF (5.0% and 6.8%). Globin chain synthesis measured in reticulocytes was in the same range as other beta-thalassemia homozygotes. One or both genes in this family must be a particularly mild beta-thalassemia allele, despite the fact that the heterozygote members of the family presented clinical, hematological, and biochemical features indistinguishable from the typical heterozygotes for the beta-thalassemia trait with high HbA2. PMID:6188877

Zago, M A; Costa, F F; Bottura, C

1983-01-17

55

Staphylococcus aureus abscess of the spleen in a beta-thalassemia patient.  

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Splenic abscesses are rare among abdominal abscesses. We present a case of splenic abscess due to Staphylococcus aureus in a beta-thalassemia major patient. Such a complication may not be coincidental, as beta-thalassemia major patients have an increased susceptibility to infection, which is attributable to a number of immune abnormalities. PMID:12160176

Aessopos, Athanasios; Politou, Marianna; Farmakis, Dimitrios; Sideris, Panagiotis; Grapsa, Anneta; Andreopoulos, Anastasios; Kalahanis, Nikolaos; Karagiorga, Markisia

2002-01-01

56

Staphylococcus aureus abscess of the spleen in a beta-thalassemia patient.  

UK PubMed Central (United Kingdom)

Splenic abscesses are rare among abdominal abscesses. We present a case of splenic abscess due to Staphylococcus aureus in a beta-thalassemia major patient. Such a complication may not be coincidental, as beta-thalassemia major patients have an increased susceptibility to infection, which is attributable to a number of immune abnormalities.

Aessopos A; Politou M; Farmakis D; Sideris P; Grapsa A; Andreopoulos A; Kalahanis N; Karagiorga M

2002-01-01

57

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

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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; Mehrnoush Kosaryan; Aili Aliasgharian; Ali Abbaskhanian; Rayka Sharifian; Mehrdad Taghipour

2012-01-01

58

Renal dysfunction in patients with beta-thalassemia major receiving iron chelation therapy either with deferoxamine and deferiprone or with deferasirox.  

Science.gov (United States)

There are limited studies on renal involvement in beta-thalassemia, mainly involving patients on deferoxamine, reporting both glomerular and tubular dysfunction. The aim of the present study was to investigate renal involvement in young thalassemia patients, using both conventional and early markers of renal dysfunction, and to correlate findings to iron chelation therapy. Forty-two patients aged 4-23 years were studied and, for analysis purposes, were divided into two groups based on chelation therapy (group A receiving deferasirox and group B receiving deferoxamine and deferiprone combination therapy). In addition to conventional renal biochemistries, creatinine clearance, estimated glomerular filtration rate, serum cystatin C (Cys C), fractional excretion of sodium, tubular phosphorus reabsorption and urine calcium, protein, beta(2)-microglobulin (beta(2)-MG) and glucose levels were measured. A considerable number of patients demonstrated impaired renal function with elevated Cys C levels (36%), glomerular dysfunction with proteinuria (24%) and tubulopathy with hypercalciuria (35.5%) and elevated excretion of beta(2)-MG (33.5%). Renal involvement seems to be present even in young patients with beta-thalassemia, therefore, routine use of early markers of renal dysfunction is recommended. Further studies are needed in order to investigate the role of new chelators in tubular function parameters. PMID:20185899

Economou, Marina; Printza, Nikoletta; Teli, Aikaterini; Tzimouli, Vassiliki; Tsatra, Ioanna; Papachristou, Fotis; Athanassiou-Metaxa, Miranda

2010-02-24

59

Renal dysfunction in patients with beta-thalassemia major receiving iron chelation therapy either with deferoxamine and deferiprone or with deferasirox.  

UK PubMed Central (United Kingdom)

There are limited studies on renal involvement in beta-thalassemia, mainly involving patients on deferoxamine, reporting both glomerular and tubular dysfunction. The aim of the present study was to investigate renal involvement in young thalassemia patients, using both conventional and early markers of renal dysfunction, and to correlate findings to iron chelation therapy. Forty-two patients aged 4-23 years were studied and, for analysis purposes, were divided into two groups based on chelation therapy (group A receiving deferasirox and group B receiving deferoxamine and deferiprone combination therapy). In addition to conventional renal biochemistries, creatinine clearance, estimated glomerular filtration rate, serum cystatin C (Cys C), fractional excretion of sodium, tubular phosphorus reabsorption and urine calcium, protein, beta(2)-microglobulin (beta(2)-MG) and glucose levels were measured. A considerable number of patients demonstrated impaired renal function with elevated Cys C levels (36%), glomerular dysfunction with proteinuria (24%) and tubulopathy with hypercalciuria (35.5%) and elevated excretion of beta(2)-MG (33.5%). Renal involvement seems to be present even in young patients with beta-thalassemia, therefore, routine use of early markers of renal dysfunction is recommended. Further studies are needed in order to investigate the role of new chelators in tubular function parameters.

Economou M; Printza N; Teli A; Tzimouli V; Tsatra I; Papachristou F; Athanassiou-Metaxa M

2010-01-01

60

Plastic bronchitis in beta thalassemia minor.  

UK PubMed Central (United Kingdom)

Plastic bronchitis is a rare pulmonary disorder associated with various conditions like cystic fibrosis, asthma, pulmonary infection and characterized by formation and expectoration of cast which assumes the shape of the bronchial tree. We report a case of a 33-year-old woman with beta thalassemia minor who developed plastic bronchitis.

Yadav M; Tirpude S; Joshi JM

2013-07-01

 
 
 
 
61

Beta-thalassemia in southwestern Iran.  

UK PubMed Central (United Kingdom)

Seventeen unrelated beta-thalassemia patients or carriers from Southwestern Iran were examined for the beta-globin gene mutations by polymerase chain reaction amplification of the beta-globin gene and direct genomic sequencing, or by the method of allele-specific oligonucleotide hybridization. Their clinical and hematological characteristics were also recorded. Of 26 potential thalassemia-causing chromosomes examined, 10 different mutations were found. The IVS-II-1 (G-->A) mutation was the most frequent (31%) followed by the IVS-I-6 (T-->C) mutation (15%). Eight mutations were initially described in Mediterranean populations and two were of Kurdish origin. Four of these mutations, both initially described in the Mediterranean region, are reported here for the first time in Iranians. The unexpectedly high number of different mutations that account for beta-thalassemia in this region of Iran suggest migration of chromosomes from distant places and genetic admixture.

Merat A; Haghshenas M; Pour ZM; Plonczynski MW; Harrell AN; Coleman MB; Steinberg MH

1993-10-01

62

Beta-thalassemia in southwestern Iran.  

Science.gov (United States)

Seventeen unrelated beta-thalassemia patients or carriers from Southwestern Iran were examined for the beta-globin gene mutations by polymerase chain reaction amplification of the beta-globin gene and direct genomic sequencing, or by the method of allele-specific oligonucleotide hybridization. Their clinical and hematological characteristics were also recorded. Of 26 potential thalassemia-causing chromosomes examined, 10 different mutations were found. The IVS-II-1 (G-->A) mutation was the most frequent (31%) followed by the IVS-I-6 (T-->C) mutation (15%). Eight mutations were initially described in Mediterranean populations and two were of Kurdish origin. Four of these mutations, both initially described in the Mediterranean region, are reported here for the first time in Iranians. The unexpectedly high number of different mutations that account for beta-thalassemia in this region of Iran suggest migration of chromosomes from distant places and genetic admixture. PMID:8294202

Merat, A; Haghshenas, M; Pour, Z M; Plonczynski, M W; Harrell, A N; Coleman, M B; Steinberg, M H

1993-10-01

63

Fetal globin induction in beta-thalassemia.  

UK PubMed Central (United Kingdom)

Thalassemia patients with persistently high levels of fetal globin typically have less severe anemia, have milder clinical syndromes, and are often transfusion independent. Therefore, the search for molecules exhibiting the property of inducing gamma-globin gene expression and fetal hemoglobin (HbF) production is of great interest. Different pharmacological agents have been studied, namely erythropoietin, short chain fatty acids and cytotoxic agents, azacytidine, and hydroxycarbamide. Hemoglobin F inducers from natural plants, such as angelicin and resveratrol, are powerful inducers of erythroid differentiation and increase HbF in erythroid progenitors of thalassemia patients. Induction of HbF in beta-thalassemia patients is expected to be crucial for developing countries unable to sustain the high cost of clinical management of beta-thalassemia patients.

El-Beshlawy A; Hamdy M; El Ghamrawy M

2009-01-01

64

Fetal globin induction in beta-thalassemia.  

Science.gov (United States)

Thalassemia patients with persistently high levels of fetal globin typically have less severe anemia, have milder clinical syndromes, and are often transfusion independent. Therefore, the search for molecules exhibiting the property of inducing gamma-globin gene expression and fetal hemoglobin (HbF) production is of great interest. Different pharmacological agents have been studied, namely erythropoietin, short chain fatty acids and cytotoxic agents, azacytidine, and hydroxycarbamide. Hemoglobin F inducers from natural plants, such as angelicin and resveratrol, are powerful inducers of erythroid differentiation and increase HbF in erythroid progenitors of thalassemia patients. Induction of HbF in beta-thalassemia patients is expected to be crucial for developing countries unable to sustain the high cost of clinical management of beta-thalassemia patients. PMID:20001626

El-Beshlawy, Amal; Hamdy, Mona; El Ghamrawy, Mona

2009-01-01

65

Camperdown hemoglobin associated with beta° thalassemia in a Brazilian child  

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Full Text Available 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 heterozygous 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

2005-01-01

66

Diamond-Blackfan anemia associated with beta-thalassemia trait.  

UK PubMed Central (United Kingdom)

A 14-month-old boy was referred to our hospital for evaluation of severe anemia. In the bone marrow aspiration smear, normal cellularity with severe erythroblastopenia (3%) was observed. The hemoglobin electrophoresis of the patient and his father were compatible with the beta-thalassemia trait. Because macrocytosis of Diamond-Blackfan anemia (DBA) is masked by microcytosis of beta-thalassemia trait, the diagnosis of DBA co-existing with beta-thalassemia trait might be challenging. We report herein a case of DBA co-existing with beta-thalassemia trait in a Turkish boy.

Tavil B; Cetin M; Ku?konmaz B; Gümrük F

2006-03-01

67

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

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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

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Screening of Five Common Beta Thalassemia Mutations in the Pakistani Population: A basis for prenatal diagnosis.  

UK PubMed Central (United Kingdom)

OBJECTIVES: Thalassemia is one of the most common autosomal single-gene disorder worldwide. The highest prevalence of the disease is in the "thalassemia belt" which includes the Mediterranean region, parts of the Middle East, the Indian subcontinent, the southern parts of the Far East, Pakistan and South-East Asia. This study aimed to detect the common molecular abnormalities of the beta thalassemia syndrome in Pakistan. METHODS: The study was conducted at the Institute of Hematology, Baqai Medical University, Karachi, Pakistan from August 2004 to November 2007. Blood samples of patients with beta thalassemia major (n = 400) were collected from hospital transfusion centres and diagnostic laboratories in different districts of Karachi representing five major ethnic groups including Punjabi, Pathan, Sindhi, Baluchi and Urdu speaking. All the samples were analysed for five common mutations by using the polymerase chain reaction technique ARMS (amplification of refractory mutation system). RESULTS: The data revealed five common mutations including IVS 1-5(G?C), Fr 41/42(-CTTT), Fr 8/9 (+G), IVS 1-1 and Del 619. These accounted for 90% of the total beta thalassemia genes in Pakistan. The IVS 1-5(G?C) was found to be the most common beta thalassemia gene in the Pakistani population with a frequency of 44.4% present in all major ethnic groups. CONCLUSION: The results of this study will be helpful in the establishment of a large scale prenatal diagnosis programme in Pakistan.

Usman M; Moinuddin M; Ghani R; Usman S

2009-12-01

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

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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; Jain Manish; Chandrasekaran Venkatraman; Indhumathi Elayaperumal; Soundararajan Periasamy

2008-01-01

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

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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

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Exercise Stress Echocardiography with Tissue Doppler Imaging (TDI) Detects Early Systolic Dysfunction in Beta-Thalassemia Major Patients without Cardiac Iron Overload.  

UK PubMed Central (United Kingdom)

OBJECTIVES: To evaluate left and right myocardial performance at rest and after maximal exercise by conventional and Tissue Doppler Imaging (TDI) echocardiography. BACKGROUND: Iron Overload Cardiomyopathy (IOC) is the main cause of death in thalassemia major (TM) patients but conventional Echocardiography fails to predict early cardiac dysfunction. As TDI is able to demonstrate regional myocardial dysfunction and stress test may reveal abnormalities which are not evident at rest, we wondered if echocardiographic parameters may reveal abnormalities when applied first at rest and then after a physical effort. METHODS: We enrolled 46 consecutive beta-TM patients and 39 control subjects without evidence of cardiac disease; two echocardiograms, at baseline and at the end of maximal exercise on supine bicycle ergometer, were done. All TM patients had a liver iron assessment by SQUID (Superconducting Quantum Interference Device) and a cardiac iron one by MRI (T2*) evaluation. RESULTS: 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. Pulmonary artery systolic pressure (PAPs) values were greater than in control subjects both at rest and after exercise CONCLUSIONS: 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.

Barbero U; Destefanis P; Pozzi R; Longo F; Piga A

2012-01-01

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Dyserythropoiesis in iron deficiency and in beta-thalassemia.  

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Nuclear and cytoplasmic abnormalities were quantitated in bone marrow erythroblasts from 15 patients with iron deficient anemia, 5 beta-thalassemia homozygotes, 5 beta-thalassemia heterozygotes, 6 S/beta-thalassemia double heterozygotes and 9 controls. The frequency of dyserythropoietic changes in iron deficiency was 11.90 +/- 5.02% (mean +/- SD) which is significantly higher than 3.36 +/- 1.16% obtained for the control group. The degree of dyserythropoiesis was negatively correlated with hemoglobin level (rS = 0.757). The frequency of dyserythropoietic changes obtained for the beta-thalassemia heterozygotes (5.23 +/- 1.45%) and for S/beta-thalassemia (7.13 +/- 2.00%) was elevated compared with the controls (P less than 0.05 and P less than 0.01, respectively). The highest frequency of dyserythropoiesis (19.88 +/- 7.40%) occurred among beta-thalassemia homozygotes. In all cases studied the abnormalities were observed mainly in the late erythroblasts. In addition, a peculiar cytoplasmic inclusion was observed in Leishman-stained bone marrow or peripheral blood erythroblasts from beta-thalassemia homozygotes, which is probably the result of precipitation of excess alpha-chain. This abnormality of thalassemia erythroblasts in Leishman-stained smears had not been previously reported. PMID:6518337

Zago, M A; Costa, F F; Bottura, C

1984-01-01

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Total antioxidant capacity and ischemia modified albumin in beta thalassemia.  

UK PubMed Central (United Kingdom)

BACKGROUND: Total antioxidant capacity (TAC) and ischemia modified albumin (IMA) are common parameters used to assess the status of oxidative stress under different conditions. This study reports on TAC and levels of IMA in patients with beta-thalassemia major. METHODS: Blood specimens were collected from 98 subjects (55 beta-thalassemia major patients and 43 healthy controls). Serum levels of IMA and TAC were determined using conventional biochemical methods. Serum levels of ferritin, iron, TIBC, ALT, bilirubin, total protein, and albumin were measured using automated chemistry analyzers. RESULTS: Levels of TIBC were significantly lower, and those of ferritin, iron, percentage of transferrin saturation, ALT, total and direct bilirubin were significantly higher in patients than in controls. No significant differences were observed between patients and controls with respect to total protein and albumin. TAC levels, expressed as mM Trolox equivalents, were significantly lower in patients than in controls (0.197 +/- 0.106 vs. 0.274 +/- 0.122, p < 0.01). Serum levels of IMA (ABSU) were significantly higher in patients than in controls (0.543 +/- 0.124 vs. 0.452 +/- 0.085, p < 0.01). Spearman univariate analysis demonstrated significant inverse correlations of TAC with both IMA and ferritin (r = -0.307, p < 0.05 and r = -0.395, p < 0.01, respectively) and significant direct correlation of IMA with ferritin (r = 0.519, p < 0.01). CONCLUSIONS: This study demonstrates the presence of a significant inverse correlation between total antioxidant capacity and IMA; this further argues for the inclusion of IMA as one of the oxidative stress markers in thalassemic patients.

Awadallah S; Al Arrayed K; Bahareth E; Saeed Z

2013-01-01

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Beta-thalassemia in Brazil.  

Science.gov (United States)

1. Clinical, hematological, genetic and peripheral blood globin synthesis studies were carried out on 17 symptomatic Brazilian thalassemics and their parents who live in the northeast of São Paulo State. The group included 8 beta zero-thalassemia homozygotes, 7 carriers of at least one beta + gene, one delta beta zero/beta zero-thalassemia double heterozygote and one beta zero homozygote also carrying the alpha-chain variant Hb Hasharon (alpha 2(47) His beta 2). 2. The mean non-alpha/alpha ratio for globin biosynthesis of the patients lacking HbA (beta zero homozygotes and delta beta zero/beta zero double heterozygotes) was 0.26 +/- 0.11 (mean +/- SD), which is not statistically different from the value of 0.32 +/- 0.06 obtained for the carriers of at least one beta + gene. In contrast, the mean non-alpha/alpha ratio for the thalassemia major patients (0.22 +/- 0.07) was significantly lower than that obtained for the milder cases (0.34 +/- 0.06) although the beta/alpha ratios for the parents of the two groups were similar. 3. The heterogeneity within this group of Brazilian patients having two thalassemic genes, i.e. 60% who are beta zero homozygotes and 40% who are carriers of at least one beta + gene, is consistent with the Italian origin of most of these patients. PMID:6086110

Zago, M A; Costa, F; Bottura, C

1981-12-01

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Genetic counselling in beta thalassemia in Ferrara.  

UK PubMed Central (United Kingdom)

The effects of retrospective and prospective genetic counselling were studied in the Ferrara area, where the gene for beta thalassemia has polymorphic frequency. It was found that retrospective genetic counselling may have an effect in influencing the retrospective behaviour of couples who already have a child with Cooley's anemia. If the child is at a late birth order, reproduction may be terminated; if it is at an early birth order, it is continued, so that reproductive compensation takes place. In prospective counselling, given after population screening, it was found that the individuals identified as heterozygotes know, in a large percentage, what their state is and what its possible reproductive consequences are. However, it was found that the effect of such knowledge is not significant in influencing the marriage choice of heterozygotes.

Barrai I; Vullo C

1980-06-01

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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 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 Form-36). TIPO DE ESTUDO E LOCAL Estudo transversal no Centro de Hematologia e Pesquisa em Univers (more) idade 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) questionnaire. DESIGN AND SETTING Cross-sectional study at the Hematology Research Center of Shiraz University of Medical Sciences, in souther (more) n 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.

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

2013-01-01

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The levels of nitric oxide in beta-thalassemia minor  

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Full Text Available OBJECTIVE: The aim of this study was to investigate the relationship between NO (nitric oxide) and beta-thalassemia minor. METHODS: A total of 60 patients with beta-thalassemia minor (30 M, 30 F) were included in the study. The control group consisted of 60 healthy subjects (30 M, 30 F). Plasma nitrite/nitrate levels were measured using the Griess reaction method and analyzed by spectrophotometry at 545 nm.RESULTS: Plasma direct nitrite, total nitrite and nitrate levels were 7.561±6.19, 42.548±7.37 and 34.84±6.24 in beta-thalassemia minor patients versus 36.9±19.8, 85.9±35.3 and 48.61±17.35 Ìmol/dl in controls, respectively. Plasma direct nitrite, total nitrite and nitrate levels were significantly lower in beta-thalassemia minor patients compared with the control group (p<0.001). CONCLUSION: These findings confirm that plasma NO levels in beta-thalassemia minor patients are decreased at the time of diagnosis. This may be helpful in assessing the prognosis and follow-up evaluation of patients with beta-thalassemia minor.

Nihayet Bayraktar; Mehmet Ali Erkurt; ?smet Aydo?du; Yalç?n Ba?aran

2008-01-01

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

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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.

Hashemizadeh H MSc; Noori R MSc

2013-01-01

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Depression in subjects with beta-thalassemia minor.  

UK PubMed Central (United Kingdom)

Beta-thalassemia minor is a common genetic blood disorder in Mediterranean countries such as Turkey. Additionally, depression is one of the most widespread mental disorders that affect people worldwide, and its prevalence is increasing with co-occurring medical conditions. The aim of this study was to determine whether the frequency of depression is elevated in subjects with beta-thalassemia minor. A total of 106 subjects were included in this study, of which 53 participants were diagnosed with beta-thalassemia minor. The other 53 participants were otherwise healthy. Hemoglobin electrophoresis and a complete blood count were performed in all subjects, and all participants were evaluated using the Hamilton Depression Rating Scale (HDRS). The HDRS scores of the subjects with beta-thalassemia minor were higher than those in the healthy subjects (p?beta-thalassemia minor, in which the risk of depression may be increased in subjects with this condition.

Ke?kek SO; K?r?m S; Turhan A; Turhan FG

2013-07-01

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Prevalence of hepatosplenomegaly in beta thalassemia minor subjects in Iran  

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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 mm3, 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

2009-01-01

 
 
 
 
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Prevalence of hepatosplenomegaly in beta thalassemia minor subjects in Iran  

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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

82

A case of GH deficiency and beta-thalassemia.  

Science.gov (United States)

A 23-year-old male patient, who suffers from beta-thalassemia major, came to us for an endocrine-metabolic evaluation. Medical history showed a diagnosis of heart disease with heart failure since the age of 16, type 1 diabetes mellitus diagnosed at the age of 18, treated with an intensive insulin therapy with a poor glycometabolic control. Patient performed regular blood transfusions and iron chelation with deferasirox. An echocardiogram revealed an enlarged left ventricle. Patient had undergone a comprehensive study of buoyancy both basal and hormone-stimulated and it was therefore carried out a diagnosis of GH deficiency and hypogonadotropic hypogonadism. A recombinant GH replacement therapy was then prescribed. After six months of therapy, the patient reported a net improvement of asthenic symptoms. Physical examination showed a reduction in abdominal adiposity in waist and an increase of 5 cm in stature. Laboratory tests showed an amelioration of glycometabolic control, such as to justify a reduction in daily insulin dose. The stature observed was thought appropriate to begin the administration of testosterone. Moreover, the cardiological framework showed a reduction of left ventricular dilatation, good ventricular motility, global minimum persistent tricuspid but not mitral regurgitation and no alteration on ECG. PMID:22691893

Smacchia, M P; Mercuri, V; Antonetti, L; Bassotti, G; D'Amico, T; Pietrobono, D; Gargiulo, P

2012-06-01

83

A case of GH deficiency and beta-thalassemia.  

UK PubMed Central (United Kingdom)

A 23-year-old male patient, who suffers from beta-thalassemia major, came to us for an endocrine-metabolic evaluation. Medical history showed a diagnosis of heart disease with heart failure since the age of 16, type 1 diabetes mellitus diagnosed at the age of 18, treated with an intensive insulin therapy with a poor glycometabolic control. Patient performed regular blood transfusions and iron chelation with deferasirox. An echocardiogram revealed an enlarged left ventricle. Patient had undergone a comprehensive study of buoyancy both basal and hormone-stimulated and it was therefore carried out a diagnosis of GH deficiency and hypogonadotropic hypogonadism. A recombinant GH replacement therapy was then prescribed. After six months of therapy, the patient reported a net improvement of asthenic symptoms. Physical examination showed a reduction in abdominal adiposity in waist and an increase of 5 cm in stature. Laboratory tests showed an amelioration of glycometabolic control, such as to justify a reduction in daily insulin dose. The stature observed was thought appropriate to begin the administration of testosterone. Moreover, the cardiological framework showed a reduction of left ventricular dilatation, good ventricular motility, global minimum persistent tricuspid but not mitral regurgitation and no alteration on ECG.

Smacchia MP; Mercuri V; Antonetti L; Bassotti G; D'Amico T; Pietrobono D; Gargiulo P

2012-06-01

84

Hemoglobin levels and red blood cell indices in mid gestational fetuses with beta-thalassemia/HbE, beta-thalassemia trait or Hb E trait and normal fetuses.  

UK PubMed Central (United Kingdom)

OBJECTIVE: To compare red blood cell indices among normal, beta-thalassemia trait or hemoglobin (Hb) E trait, and beta-thalassemia/Hb E diseases mid-gestational fetuses. METHODS: 175 fetuses at risk of beta-thalassemia/Hb E disease undergoing cordocentesis with determination of Hb levels and red blood cell indices at mid-pregnancy were recruited. The fetal diagnoses were based on fetal Hb typing and DNA analysis. The fetuses were divided into three groups: normal, beta-thalassemia trait or Hb E trait, and beta-thalassemia/Hb E disease. RESULTS: The prevalence of beta-thalassemia/Hb E disease, beta-thalassemia trait or Hb E trait, and normal fetuses was 32.6% (57 cases), 28.6% (50 cases) and 36.6% (64 cases), respectively. Mean Hb levels and red blood cell indices were not significantly different among the three groups of fetuses. However, almost 10% of beta-thalassemia/Hb E fetuses had some degree of anemia. The most anemic fetuses had a ?(0) mutation. CONCLUSION: There is no significant difference in Hb level and red blood cell indices among fetuses at risk of beta-thalassemia/Hb E disease. This article is protected by copyright. All rights reserved.

Srisupundit K; Wanapirak C; Sirichotiyakul S; Tongprasert F; Leuwan S; Traisrisilp K; Tongsong T

2013-09-01

85

[Differentiation between heterozygotic beta-thalassemia and iron deficiency anemia].  

UK PubMed Central (United Kingdom)

Several laboratory tests have been proposed for the differentiation of beta thalassemia from iron deficiency, including decision functions based on red blood cells indices generated by electronic cell counters. The accuracy of these screening methods was assessed in 192 patients with microcytosis known to be secondary to beta thalassemia minor and 72 patients with iron deficiency. The functions evaluated were: 1) discriminant function of England an Fraser: MCV--(5xHb)--RBC--8.4; 2) ratio of MCH/RBC; 3) ratio of MCV/RBC; 4) ratio of (MCV)2 x MCH and 5) the erythrocyte count. The discriminant function of England and Fraser showed the highs, percentage of correct distinction between iron deficiency and beta thalassemia minor, although diagnosis errors occurred in 10%. Mentzer ratio MCV/RBC detected all cases of beta thalassemia but was a poor index for iron deficiency detection. The tested discriminant function, with exception of the Mentzer ratio, although not sufficiently accurate for definitive diagnosis, appears to be a useful technique in the initial screening of patients with microcytosis.

Sonati Mde F; Grotto HZ; Kimura EM; Costa FF

1993-10-01

86

Prenatal diagnosis of beta-thalassemia in Southern Punjab, Pakistan.  

UK PubMed Central (United Kingdom)

Pakistan has a large population of more than 150 million people with an overall carrier frequency of approximately 5.6% for beta-thalassemia. Punjab is the largest province of the country having more than 50% of the population. The state of beta-thalassemia is alarming as consanguinity is very high (>81%) and the literacy rate is low in South Punjab. A thalassemia prevention program is the need of the hour in this part of Pakistan. In this study, we initiated awareness, screening, and characterization of the mutations causing beta-thalassemia as well as a genetic counseling program mainly in the districts of Faisalabad and D.G. Khan to establish prenatal diagnosis, a facility previously unavailable in this region for disease prevention. A total of 248 unrelated transfusion-dependent children and the available members of their families were screened to characterize the mutations and identify the carriers. Genetic counseling was provided to these families and prenatal diagnosis offered. In the samples analyzed, 11 beta-thalassemia mutations and three hemoglobin variants were detected mainly by using the Monoplex and Multiplex ARMS-PCR. First-trimester prenatal diagnosis was carried out through chorionic villus sampling (CVS) in seven pregnancies at risk. As a result of our campaign, 145 carrier couples planning to have more children gave their consent to have retrospective prenatal diagnosis in every pregnancy in future. A cooperative trend and a positive attitude toward the prevention of beta-thalassemia were noticed in the families with affected children and in the general population.

Baig SM; Azhar A; Hassan H; Baig JM; Aslam M; Ud Din MA; Qureshi JA; Zaman T

2006-10-01

87

Clinical phenotypes and molecular diagnosis in a hitherto interaction of Hb E/beta thalassemia syndrome (beta(E)/beta(-31), (A -->G)).  

Science.gov (United States)

Molecular identification of affected alleles in the index family with rare mutation(s) and/or interaction(s) is an important prerequisite toward a proper genetic counseling. In Thailand, where more than 30% of the populations are heterozygotes for either alpha or beta thalassemia mutation(s). More than 60 different thalassemia syndromes resulting from the interactions of these heterogeneous alleles have been observed. The majority of patients in the hospital based-study are compound heterozygotes for beta thalassemia alleles and another hemoglobinopathy namely Hb E, highly prevalent in Thailand, gave rise to Hb E/beta thalassemia syndrome. The phenotypes of these syndromes vary from asymptomatic individual to a very severe phenotype mimic that of beta thalassemia major. In this report, we describe a three-year-old Thai girl presenting with mild hypochromic microcytic anemia since birth. She was born prematurely and developed anemia within the first week of life. The cause of anemia was suspected to result from prematurity and low intrauterine iron storage, however hypochromic anemia did not resolve after a three-month of iron supplement therapy. Subsequent studies indicated that the patient had Hb E/beta thalassemia disease and the molecular study revealed that the patient was a compound heterozygote for Hb E and a rare beta thalassemia mutation (beta(-31), A --> G). This hitherto genotype results in a relatively mild clinical symptom since the patient's baseline Hb values were around 9-10 g/dL with normal weight and height development during the follow-up period. PMID:16856429

Vathana, Nassawee; Viprakasit, Vip; Sanpakit, Kleebsabi; Chinchang, Worrawut; Veerakul, Gavivann; Tanphaichitr, Voravarn

2005-11-01

88

Low bone mineral density in adolescents with beta-thalassemia.  

Science.gov (United States)

The pervasiveness of low bone mass (LBM) in beta-thalassemia (Thal) patients (pts) is escalating as the average life expectancy of these pts increases. Adolescence is a period of substantial bone accrual, which is crucial for future bone strength. Studies of LBM are prevalent among adults with Thal. However, limited information exists about bone accrual and LBM in adolescents with the disease. Thirty-one pts with beta-Thal (26 Thal major [TM], 5 Thal intermedia [TI]), aged 9-20 years (mean: 15.3 years), 14 males and 17 females, underwent measurement of spinal bone mineral density (BMD) by DEXA (Lunar, Prodigy). Height, weight, body mass index, and Tanner stage were assessed at the time of the BMD measurement. A total of 16.1% of the patients had normal bone mass (Z > or = -1), 22.6% had reduced bone mass (Z = -1 to -2), and 61.3% had low bone mass (Z < or = -2). BMD Z correlated with height and weight Z scores. Some 53.9% of subjects had normal gonadal function and 46.1% had induced puberty with gonadal steroids. BMD Z significantly worsened with age (P < .0001). However, there was no difference in the LBM prevalence between subjects with normal versus those with induced puberty: BMD Z was -2 or less in 71.4% of subjects with normal puberty versus 66.7% in those with induced puberty. Our results indicate a high prevalence of LBM among adolescents with Thal regardless of adequate transfusion and chelation regimens. Bone accrual was found to be suboptimal in adolescents with normal or induced puberty. Thus, calcium and vitamin D supplementation with antiresorptive therapies should be evaluated in the adolescent Thal pt with close monitoring of growth and sexual development. PMID:16339698

Vogiatzi, Maria G; Autio, Karen A; Mait, Jeffrey E; Schneider, Robert; Lesser, Martin; Giardina, Patricia J

2005-01-01

89

A synthetic model of human beta-thalassemia erythropoiesis using CD34+ cells from healthy adult donors.  

UK PubMed Central (United Kingdom)

Based upon the lack of clinical samples available for research in many laboratories worldwide, a significant gap exists between basic and clinical studies of beta-thalassemia major. To bridge this gap, we developed an artificially engineered model for human beta thalassemia by knocking down beta-globin gene and protein expression in cultured CD34+ cells obtained from healthy adults. Lentiviral-mediated transduction of beta-globin shRNA (beta-KD) caused imbalanced globin chain production. Beta-globin mRNA was reduced by 90% compared to controls, while alpha-globin mRNA levels were maintained. HPLC analyses revealed a 96% reduction in HbA with only a minor increase in HbF. During the terminal phases of differentiation (culture days 14-21), beta-KD cells demonstrated increased levels of insoluble alpha-globin, as well as activated caspase-3. The majority of the beta-KD cells underwent apoptosis around the polychromatophilic stage of maturation. GDF15, a marker of ineffective erythropoiesis in humans with thalassemia, was significantly increased in the culture supernatants from the beta-KD cells. Knockdown of beta-globin expression in cultured primary human erythroblasts provides a robust ex vivo model for beta-thalassemia.

Lee YT; Kim KS; Byrnes C; de Vasconcellos JF; Noh SJ; Rabel A; Meier ER; Miller JL

2013-01-01

90

A Synthetic Model of Human Beta-Thalassemia Erythropoiesis Using CD34+ Cells from Healthy Adult Donors  

Science.gov (United States)

Based upon the lack of clinical samples available for research in many laboratories worldwide, a significant gap exists between basic and clinical studies of beta-thalassemia major. To bridge this gap, we developed an artificially engineered model for human beta thalassemia by knocking down beta-globin gene and protein expression in cultured CD34+ cells obtained from healthy adults. Lentiviral-mediated transduction of beta-globin shRNA (beta-KD) caused imbalanced globin chain production. Beta-globin mRNA was reduced by 90% compared to controls, while alpha-globin mRNA levels were maintained. HPLC analyses revealed a 96% reduction in HbA with only a minor increase in HbF. During the terminal phases of differentiation (culture days 14–21), beta-KD cells demonstrated increased levels of insoluble alpha-globin, as well as activated caspase-3. The majority of the beta-KD cells underwent apoptosis around the polychromatophilic stage of maturation. GDF15, a marker of ineffective erythropoiesis in humans with thalassemia, was significantly increased in the culture supernatants from the beta-KD cells. Knockdown of beta-globin expression in cultured primary human erythroblasts provides a robust ex vivo model for beta-thalassemia.

Byrnes, Colleen; de Vasconcellos, Jaira F.; Noh, Seung-Jae; Rabel, Antoinette; Meier, Emily R.; Miller, Jeffery L.

2013-01-01

91

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 remission.

1998-10-01

92

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; Jila Dastan; Tayebeh Sabokbar; Solmaz Shoraka; Azadeh Shojaei; Habib Nasiri; Saeed Reza Ghaffari

2007-01-01

93

Diagnosis of concurrent hemoglobin H disease and heterozygous beta-thalassemia.  

Science.gov (United States)

Definitive diagnosis of concurrent hemoglobin (Hb) H disease and heterozygous beta-thalassemia cannot be made from Hb analysis alone, but necessitates genotype analysis and family study. Interactions between alpha- and beta-thalassemia must be considered when investigating moderate to severe hypochromic microcytic anemia of uncertain cause in adult patients from areas with a high prevalence of globin gene mutations. PMID:11325652

Ma, E S; Chan, A Y; Au, W Y; Yeung, Y M; Chan, L C

2001-04-01

94

Diagnosis of concurrent hemoglobin H disease and heterozygous beta-thalassemia.  

UK PubMed Central (United Kingdom)

Definitive diagnosis of concurrent hemoglobin (Hb) H disease and heterozygous beta-thalassemia cannot be made from Hb analysis alone, but necessitates genotype analysis and family study. Interactions between alpha- and beta-thalassemia must be considered when investigating moderate to severe hypochromic microcytic anemia of uncertain cause in adult patients from areas with a high prevalence of globin gene mutations.

Ma ES; Chan AY; Au WY; Yeung YM; Chan LC

2001-04-01

95

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

Digital Repository Infrastructure Vision for European Research (DRIVER)

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 g...

Prabahar Murugesan; Jain Manish; Chandrasekaran Venkatraman; Indhumathi Elayaperumal; Soundararajan Periasamy

96

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

Digital Repository Infrastructure Vision for European Research (DRIVER)

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 ha...

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

97

Pregnancy in beta-thalassemia trait carriers: an uneventful journey.  

Science.gov (United States)

Normochromic normocytic anemia during pregnancy reflects the significant increase in plasma volume, which disproportionately exceeds the increase in the red cell volume. In beta-thalassemia (beta-thal) trait carriers who become pregnant the plasma volume expansion may cause more pronounced anemia because the anemia of pregnancy is added to the pre-existed hypochromic microcytic anemia. In beta-thal women, pregnancy outcome and obstetric complications do not differ from the general population. Anemia in beta-thal carriers is generally not severe enough to warrant anxiety. No specific therapy is indicated and pregnant women generally require only supportive care with an anticipated favorable pregnancy outcome. PMID:19843388

Tsatalas, Constantinos; Chalkia, Panagiota; Pantelidou, Despoina; Margaritis, Dimitrios; Bourikas, Georgios; Spanoudakis, Emmanouil

2009-10-01

98

Pregnancy in beta-thalassemia trait carriers: an uneventful journey.  

UK PubMed Central (United Kingdom)

Normochromic normocytic anemia during pregnancy reflects the significant increase in plasma volume, which disproportionately exceeds the increase in the red cell volume. In beta-thalassemia (beta-thal) trait carriers who become pregnant the plasma volume expansion may cause more pronounced anemia because the anemia of pregnancy is added to the pre-existed hypochromic microcytic anemia. In beta-thal women, pregnancy outcome and obstetric complications do not differ from the general population. Anemia in beta-thal carriers is generally not severe enough to warrant anxiety. No specific therapy is indicated and pregnant women generally require only supportive care with an anticipated favorable pregnancy outcome.

Tsatalas C; Chalkia P; Pantelidou D; Margaritis D; Bourikas G; Spanoudakis E

2009-10-01

99

[Distribution of beta-thalassemia CD17 mutant(A-->T) in Shanxi, Gansu and Xinjiang along the "Silk Road"  

UK PubMed Central (United Kingdom)

OBJECTIVE: To explore the distribution of beta-thalassemia CD17 mutant along the "Silk Road". METHOD: Polymerase chain reaction in combination with dot-blot hybridization of allele-specific oligonucleotide probes(PCR/ASO) was used. RESULTS: Twenty-four cases of beta-thalassemia with CD17 mutant(A-->T) including 3 cases in Shanxi, 20 cases in Gansu and 1 in Xinjiang, were found among 85 probands of beta-thalassemia. CONCLUSION: According to distribution characteristics of beta-thalassemia CD17 along the "Silk Road" of China, the CD17 mutant of beta-thalassemia might probably originate from the "Silk Road" in Longxi district of Gansu.

Zhang Y; Yu W; Li H

1998-10-01

100

Response to interferon alfa-2b therapy in mutitransfused children with beta-thalassemia and chronic hepatitis C.  

UK PubMed Central (United Kingdom)

Hepatitis C virus is responsible for the majority of cases of post-transfusion non-A non-B hepatitis in patients with thalassemia major. Interferon alfa is an effective treatment for patients with chronic hepatitis C. Response to therapy is related to the duration of treatment, the viral load in serum, and the hepatitis C virus genotype. The purpose of this study was to estimate the response of multitransfused children with beta-thalassemia and chronic hepatitis C to interferon alfa-2b therapy. Thirteen patients with beta-thalassemia and chronic hepatitis C, (mean age+/-SD, 14.1 +/- 1.7 years) participated in the study. Liver biopsy, estimation of HCV RNA, and virus genotyping were performed before onset of treatment. All patients were positive for HCV RNA in a low concentration; two patients carried the la genotype, four had genotype 3, and seven had genotype 4. Patients were treated with 3 x 10(6) U of subcutaneous interferon alfa-2b three times weekly. Eleven of 13 patients received therapy for 18 months; the remaining two underwent therapy for 6 months. Six of 13 patients responded completely to therapy, four responded partially, and three did not respond at all. The grade of inflammation and stage of fibrosis was lower in complete responders. Complete responders had lower ferritin values compared with the values for partial and nonresponders before starting therapy. The results suggest that interferon therapy should be recommended for children with beta-thalassemia major complicated by a low viral concentration of hepatitis C.

Spiliopoulou I; Repanti M; Katinakis S; Karana-Ginopoulou A; Papanastasiou DA

1999-10-01

 
 
 
 
101

The effects of deferiprone and deferasirox on the structure and function of beta-thalassemia hemoglobin.  

UK PubMed Central (United Kingdom)

Transfusional iron overload is a major cause of morbidity and mortality in thalassemia, sickle-cell disease and other chronic anemias. To overcome these problems, orally bio available iron chelators, deferiprone and deferasirox, were used for the treatment of patients suffering from thalassemia. The interactions between deferiprone and deferasirox with the carrier protein, beta-thalassemia hemoglobin (Hb), were investigated using fluorescence, circular dichroism (CD) and UV-visible measurements at physiological condition. Strong fluorescence quenching on interactions of the above drugs with beta-thalassemia Hb were observed. Fluorescence quenching data of thalassemia Hb in the presence of deferasirox have shown greater affinity of binding. The number of binding sites to Hb for deferasirox was found to be more relative to those of the deferiprone. The effects of these drugs on the oxygen affinity of the thalassemia Hb were studied by spectroscopic methods using sodium dithionite. Results indicated that deferiprone reduces oxygen affinity (increases oxygen releasing ability) of Hb, while in the presence of deferasirox, oxygen affinity of Hb has significantly increased by dose-dependent manner. As such, deferasirox exhibited opposite effect relative to deferiprone on the function of thalassemia Hb. In clinical dose of deferiprone, CD results showed that, the alpha-helical content of thalassemia Hb significantly increased. By use of the clinical dose of deferasirox, however, a decrease in alpha-helical content of protein was observed, which resulted in decreasing stability of thalassemia Hb. Our study showed that reduction in stability of thalassemia Hb in the presence of deferasirox induced higher conformational changes in protein.

Moosavi-Movahedi AA; Mousavy SJ; Divsalar A; Babaahmadi A; Karimian K; Shafiee A; Kamarie M; Poursasan N; Farzami B; Riazi GH; Hakimelahi GH; Tsai FY; Ahmad F; Amani M; Saboury AA

2009-12-01

102

The effects of deferiprone and deferasirox on the structure and function of beta-thalassemia hemoglobin.  

Science.gov (United States)

Transfusional iron overload is a major cause of morbidity and mortality in thalassemia, sickle-cell disease and other chronic anemias. To overcome these problems, orally bio available iron chelators, deferiprone and deferasirox, were used for the treatment of patients suffering from thalassemia. The interactions between deferiprone and deferasirox with the carrier protein, beta-thalassemia hemoglobin (Hb), were investigated using fluorescence, circular dichroism (CD) and UV-visible measurements at physiological condition. Strong fluorescence quenching on interactions of the above drugs with beta-thalassemia Hb were observed. Fluorescence quenching data of thalassemia Hb in the presence of deferasirox have shown greater affinity of binding. The number of binding sites to Hb for deferasirox was found to be more relative to those of the deferiprone. The effects of these drugs on the oxygen affinity of the thalassemia Hb were studied by spectroscopic methods using sodium dithionite. Results indicated that deferiprone reduces oxygen affinity (increases oxygen releasing ability) of Hb, while in the presence of deferasirox, oxygen affinity of Hb has significantly increased by dose-dependent manner. As such, deferasirox exhibited opposite effect relative to deferiprone on the function of thalassemia Hb. In clinical dose of deferiprone, CD results showed that, the alpha-helical content of thalassemia Hb significantly increased. By use of the clinical dose of deferasirox, however, a decrease in alpha-helical content of protein was observed, which resulted in decreasing stability of thalassemia Hb. Our study showed that reduction in stability of thalassemia Hb in the presence of deferasirox induced higher conformational changes in protein. PMID:19795915

Moosavi-Movahedi, A A; Mousavy, S J; Divsalar, A; Babaahmadi, A; Karimian, K; Shafiee, A; Kamarie, M; Poursasan, N; Farzami, B; Riazi, G H; Hakimelahi, G H; Tsai, F Y; Ahmad, F; Amani, M; Saboury, A A

2009-12-01

103

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 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 controle) foram submetidas a exame eletrocardiográfico e ecocardiograma transtorácico de rotina para avaliação cardíaca. A DOP foi calculada como a diferenç (more) a 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 electrocardiography and transthoracic echocardiography for cardiac evaluation. PWD was calculated as the difference between the maximum and the minimum P-wave duration. RESUL (more) TS: 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.

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

2010-04-01

104

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  

Directory of Open Access Journals (Sweden)

Full Text Available 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 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.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 electrocardiography 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

2010-01-01

105

Rapid prenatal diagnosis of common beta-thalassemia mutations in Southeast Asia using pyrosequencing.  

UK PubMed Central (United Kingdom)

OBJECTIVE: Current prenatal diagnosis of beta-thalassemia requires 10-20 ml of amniotic fluid for cell culture to obtain sufficient DNA for analysis. Cell culture takes 10-14 days, prolonging assay turnaround time. We aim to develop a sensitive and rapid method to detect 27 beta-thalassemia mutations using pyrosequencing without culture. METHOD: Pyrosequencing primer pairs and sequencing primers were designed to detect 27 most common beta-thalassemia mutations found in Singapore. Pyrosequencing was performed on 191 DNA samples with known beta-thalassemia mutations isolated from 143 peripheral blood and 48 prenatal samples (7 chorionic villus biopsies, 26 cultured amniocytes, 15 uncultured amniocytes). All mutations were validated with Sanger sequencing. RESULTS: Pyrosequencing identified 210 alleles with beta-thalassemia mutations and 82 alleles without mutations with 100% sensitivity (lower 95% CI, 97.8%) and 100% specificity (lower 95% CI, 94.4%). All pyrosequences were concordant with Sanger-based sequences. Pyrosequencing was able to detect DNA concentrations as low as 2 ng, obviating the need for cell culture in volume-restricted samples. Sample receipt-to-report assay turnaround times were 16-18 h (Sanger sequencing) and 4-6 h (pyrosequencing). CONCLUSION: Pyrosequencing is a rapid and sensitive method to detect common beta-thalassemia mutations without the need for cell culture, thus reducing the assay turnaround time. This article is protected by copyright. All rights reserved.

Ho SS; Huan PT; Leow GH; Ching LK; Chiu L; Law HY; Koay ES

2013-06-01

106

Pregnancy outcome of chorionic villus sampling on 260 couples with beta-thalassemia trait in north of Iran.  

UK PubMed Central (United Kingdom)

Chorionic 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.

Asnafi N; Akhavan Niaki H

2010-05-01

107

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; Maria Cristina S. Souza; Antonio J. Manzato; Claudia R. Bonini-Domingos

2010-01-01

108

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

Scientific Electronic Library Online (English)

Full Text Available 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 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 resul (more) ts 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.

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

2010-01-01

109

Beta-thalassemia mutations in the Portuguese; high frequencies of two alleles in restricted populations.  

UK PubMed Central (United Kingdom)

We report the characterization of seven different beta-thalassemia mutations in 131 newly diagnosed Portuguese beta-thalassemia heterozygotes. Methodology included the detection of abnormal fragments by agar gel electrophoresis of PCR-amplified DNA fragments after digestion with specific restriction endonucleases, as well as hybridization with synthetic nucleotide probes and sequencing of amplified DNA. Four mutations, including the newly discovered TGG-->TGA change at codon 15, occurred in excess of 10% and accounted for some 90% of the beta-thalassemia alleles in this population. The geographical distribution is uneven; the TGG-->TGA mutation at codon 15 was primarily observed in the coastal region north of Lisbon, while the IVS-I-6 (T-->C) mutation was confined to the central part of the country.

Tamagnini GP; Gonçalves P; Ribeiro ML; Kaeda J; Kutlar F; Baysal E; Huisman TH

1993-02-01

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Beta-thalassemia mutations in the Portuguese; high frequencies of two alleles in restricted populations.  

Science.gov (United States)

We report the characterization of seven different beta-thalassemia mutations in 131 newly diagnosed Portuguese beta-thalassemia heterozygotes. Methodology included the detection of abnormal fragments by agar gel electrophoresis of PCR-amplified DNA fragments after digestion with specific restriction endonucleases, as well as hybridization with synthetic nucleotide probes and sequencing of amplified DNA. Four mutations, including the newly discovered TGG-->TGA change at codon 15, occurred in excess of 10% and accounted for some 90% of the beta-thalassemia alleles in this population. The geographical distribution is uneven; the TGG-->TGA mutation at codon 15 was primarily observed in the coastal region north of Lisbon, while the IVS-I-6 (T-->C) mutation was confined to the central part of the country. PMID:8454469

Tamagnini, G P; Gonçalves, P; Ribeiro, M L; Kaeda, J; Kutlar, F; Baysal, E; Huisman, T H

1993-02-01

111

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

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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; Onur Öztürk; Ayfer Atalay; Erol Ömer Atalay

2009-01-01

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Prevalence of anti HCV infection in patients with Beta-thalassemia in isfahan-iran.  

UK PubMed Central (United Kingdom)

OBJECTIVES: Hepatitis C virus (HCV) is the major cause of post-transfusion hepatitis infection (PTH). Patients with thalassemia major are at high risk of hepatitis C due to the blood transfusion from donors infected by HCV. The aim of this study was to detect the prevalence of anti-HCV antibodies and risk factors in multitransfused thalassemic patients in Isfahan-Iran to establish more preventive strategies. METHODS: This study was conducted to assess the patients with beta-thalassemia in Isfahan hospitals during 1996-2011 for HCV infection. A structured interview questionnaire was developed by the trained researcher to collect the demographic and risk factors. Statistical analysis was done by Chi-square test, Mann-Withney and multiple logistic regressions using SPSS software, version 15. RESULTS: 466 patients with major thalassemia participated in this study. The mean age of patients was 17.46 ± 8.3. Two hundred and seventy (58.3%) and 193 (41.7%) of participants were male and female, respectively. The prevalence of HCV was estimated 8% among thalassemia patients. History of surgery, history of dental procedure, number of units transfused per month, number of transfusion per month and duration of transfusion had significant association with HCV seropositivity in univariate analysis. There were no statistical significant risk factors for HCV seropositivity in multiple logistic regression models. CONCLUSIONS: Our findings revealed that blood transfusion was the main risk factors for HCV infection among beta-thalassemic patients. Therefore, more blood donor screening programs and effective screening techniques are needed to prevent transmission of HCV infection among beta-thalassemic patients.

Ataei B; Hashemipour M; Kassaian N; Hassannejad R; Nokhodian Z; Adibi P

2012-03-01

113

Prevalence of Anti HCV Infection in Patients with Beta-Thalassemia in Isfahan-Iran  

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Objectives: Hepatitis C virus (HCV) is the major cause of post-transfusion hepatitis infection (PTH). Patients with thalassemia major are at high risk of hepatitis C due to the blood transfusion from donors infected by HCV. The aim of this study was to detect the prevalence of anti-HCV antibodies and risk factors in multitransfused thalassemic patients in Isfahan-Iran to establish more preventive strategies. Methods: This study was conducted to assess the patients with beta-thalassemia in Isfahan hospitals during 1996-2011 for HCV infection. A structured interview questionnaire was developed by the trained researcher to collect the demographic and risk factors. Statistical analysis was done by Chi-square test, Mann-Withney and multiple logistic regressions using SPSS software, version 15. Results: 466 patients with major thalassemia participated in this study. The mean age of patients was 17.46 ± 8.3. Two hundred and seventy (58.3%) and 193 (41.7%) of participants were male and female, respectively. The prevalence of HCV was estimated 8% among thalassemia patients. History of surgery, history of dental procedure, number of units transfused per month, number of transfusion per month and duration of transfusion had significant association with HCV seropositivity in univariate analysis. There were no statistical significant risk factors for HCV seropositivity in multiple logistic regression models. Conclusions: Our findings revealed that blood transfusion was the main risk factors for HCV infection among beta-thalassemic patients. Therefore, more blood donor screening programs and effective screening techniques are needed to prevent transmission of HCV infection among beta-thalassemic patients.

Ataei, Behrooz; Hashemipour, Marjan; Kassaian, Nazila; Hassannejad, Razieh; Nokhodian, Zary; Adibi, Peyman

2012-01-01

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

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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

115

Beta-thalassemia unlinked to the beta-globin gene in an English family.  

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An inherited hypochromic microcytic anemia transmitted in an autosomal manner has been observed in three generations of an English family. Affected members had the hallmarks of heterozygous beta-thalassemia, ie, elevated levels of hemoglobin A2 and imbalanced globin chain synthesis. However, despite extensive sequence analysis, no mutations could be found in or around the beta-globin genes of either the propositus or two other affected members from two different generations. Linkage analysis using restriction fragment length polymorphisms in the beta-globin gene cluster clearly showed that the gene responsible for the beta-thalassemia phenotype segregates independently of the beta-gene complex. Therefore, this condition represents a novel form of the disease. PMID:8101733

Thein, S L; Wood, W G; Wickramasinghe, S N; Galvin, M C

1993-08-01

116

Beta-thalassemia unlinked to the beta-globin gene in an English family.  

UK PubMed Central (United Kingdom)

An inherited hypochromic microcytic anemia transmitted in an autosomal manner has been observed in three generations of an English family. Affected members had the hallmarks of heterozygous beta-thalassemia, ie, elevated levels of hemoglobin A2 and imbalanced globin chain synthesis. However, despite extensive sequence analysis, no mutations could be found in or around the beta-globin genes of either the propositus or two other affected members from two different generations. Linkage analysis using restriction fragment length polymorphisms in the beta-globin gene cluster clearly showed that the gene responsible for the beta-thalassemia phenotype segregates independently of the beta-gene complex. Therefore, this condition represents a novel form of the disease.

Thein SL; Wood WG; Wickramasinghe SN; Galvin MC

1993-08-01

117

Unbalanced globin synthesis in bone marrow of beta-thalassemia heterozygotes.  

Science.gov (United States)

Globin-chain synthesis was studied in the peripheral blood and bone marrow of eight beta-thalassemia heterozygotes. Whole cell globin was prepared immediately after the labeling experiment. Chain separation of the bone marrow globin of each case was carried out with both the original material and after filtration on Sephadex G 100. The beta/alpha ratios obtained were (mean +/- SD): 0.46 +/- 0.05 in the peripheral blood, 0.61 +/- 0.06 in the unfiltered bone marrow globin, and 0.52 +/- 0.05 in the bone marrow globin after gel filtration. The results show that beta-thalassemia heterozygotes have a similar beta-chain deficiency in reticulocytes and bone marrow cells, provided whole cell globin is used, which avoids the removal of free alpha-chains. PMID:3689894

Costa, F F; Zago, M A; Bottura, C

1987-01-01

118

Multiorgan failure during a sickle cell crisis in sickle/beta-thalassemia.  

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In contrast to the chronic nephropathy associated with sickle cell syndromes, acute renal failure and multiorgan dysfunction caused by acute sickling crisis are encountered infrequently. The authors present the first case of extensive multiorgan failure during a sickling episode in a patient with sickle/beta+thalassemia. The authors also review the interaction of the thalassemias with sickle cell disease and outline the distinctive course of their patient in comparison with previous reports. PMID:12900844

Tedla, Fasika M; Friedman, Eli A

2003-08-01

119

Multiorgan failure during a sickle cell crisis in sickle/beta-thalassemia.  

UK PubMed Central (United Kingdom)

In contrast to the chronic nephropathy associated with sickle cell syndromes, acute renal failure and multiorgan dysfunction caused by acute sickling crisis are encountered infrequently. The authors present the first case of extensive multiorgan failure during a sickling episode in a patient with sickle/beta+thalassemia. The authors also review the interaction of the thalassemias with sickle cell disease and outline the distinctive course of their patient in comparison with previous reports.

Tedla FM; Friedman EA

2003-08-01

120

Detection of beta-thalassemia/hemoglobin E disease in samples which initially were diagnosed as homozygous hemoglobin E.  

UK PubMed Central (United Kingdom)

BACKGROUND: Differentiation of beta-thalassemia/HbE disease from homozygous HbE in samples containing HbA2/E > 75% and HbF < 15% is difficult. The aim of this study is to observe the possibility of using Hb typing and hematological parameters to identify both disorders. METHODS: Multiplex amplification refractory mutation system (MARMS)-PCR for beta-thalassemia codons 17 (A > T), 41/42 (-TCTT), 71/72 (+A), and IVSI-ntl (G > T) mutations and ARMS-PCR for HbE were performed in 67 samples that contained HbA2/E > 75% and HbF < 15%. RESULTS: Beta-thalassemia/HbE disease was identified in 10 of 67 (14.93%) samples. Levels of hemoglobin, hematocrit, and mean corpuscular volume (MCV) of beta-thalassemia/HbE disease were significantly lower than those of homozygous HbE whereas, levels of HbF were significantly higher. CONCLUSIONS: In places where the molecular analysis is not available, HbF > 5% in combination with MCV < 55 fL, hemoglobin < 100 g/L, and hematocrit < 0.30 L/L could be used for screening of beta-thalassemia/HbE disease.

Pornprasert S; Moriyama A; Kongthai K; Waneesorn J; Jaiping K; Treesuwan K; Hattori Y

2013-01-01

 
 
 
 
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Measurement of reticulocyte and red blood cell indices in patients with iron deficiency anemia and beta-thalassemia minor.  

UK PubMed Central (United Kingdom)

New parameters correlated with the hemoglobin content in reticulocytes (RET-Y) and in red blood cells (RBC-Y) have been suggested as helpful in diagnosing iron deficiency anemia. We have studied RET-Y and RBC-Y indices in two groups of patients with microcytosis to verify if these parameters could be used to differentiate iron deficiency anemia from beta-thalassemia minor. Blood samples from 33 iron-deficient patients, 25 beta-thalassemic minor patients and 50 normal individuals were analyzed on a Sysmex XE-2100 instrument. A significant difference was observed in reticulocyte counting and immature reticulocyte fraction between iron deficiency anemia and beta-thalassemia minor groups, but not in RBC-X and RET-Y parameters. Reticulocyte counting was higher in beta-thalassemia minor and the immature reticulocyte fraction was higher in severe iron deficiency anemia. The ratio RET-Y/mean cell volume was tested and was significantly different when beta-thalassemia minor was compared with mild and severe iron deficiency anemia, and showed better performance than the Mentzer ratio and the Green and King function. A great overlap of RET-Y and RBC-Y individual values was observed in both groups of microcytic anemias; we conclude that these new indices may be used with caution as indicative of iron deficiency, mainly in populations where beta-thalassemia minor is frequent.

Noronha JF; Grotto HZ

2005-01-01

122

Colloid clearance rate changes in children with homozygous-. beta. -thalassemia in relation to blood transfusion  

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The plasma clearance rate of heat denatured human serum albumin (DHAI-125, 5 mg/kg body weight) was studied in 20 children with homozygous-..beta..-thalassemia before and 7-10 days after blood transfusion. A significant increase of the DHAI-125 clearance rate (P < 0.02) was found 7-10 days after blood transfusion while the spleen presented its minimum size. This finding may be relevant to the improved intrasplenic blood circulation after blood transfusion due to the release of the blood trapped within the spleen.

Dimitriou, P.A.; Karpathios, T.E.; Antipas, S.E.; Fretzayias, A.M.; Kasfiki, A.G.; Melissinos, K.G.; Matsaniotis, N.S.

1980-10-01

123

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

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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

1997-01-01

124

[The clinico-morphological characteristics of synovial membrane involvement in beta-thalassemia  

UK PubMed Central (United Kingdom)

Using data on optic and electron microscopy the authors give characteristics of lesions in the synovial membrane of the knee joints in 6 patients with an intermediary form of beta-thalassemia. Multiple reduplication of the basal membrane was noted in all the vessels, the width of the noncellular component of the vessels increased several times and its stratification was clearly seen. Deposits of iron oxide were revealed in biopsy samples of the synovial membrane of all the patients. Those deposits were in the form of microgranular intracellular inclusions in phagocytosing cells of the superficial stroma of villi but more often they were found in the cytoplasm of the vessel cells and pericytes.

Nasonova VA; Musaev SK; Iakovleva GI; Abasov ESh; Rustamov RSh

1991-07-01

125

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

UK PubMed Central (United Kingdom)

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 anemia 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.

de Lima GA; Grotto HZ

2003-03-01

126

Beta-thalassemia mutations in Singapore--a strategy for prenatal diagnosis.  

UK PubMed Central (United Kingdom)

The strategy for early prenatal diagnosis of beta-thalassemia in Singapore by direct detection of the mutant beta-globin gene requires the spectrum of mutations producing the disorder in this population to be characterized. We analyzed 134 beta-thalassemia alleles from Singapore by specific oligonucleotide hybridization after DNA amplification, using a nonradioactive enhanced chemiluminescence detection system. The mutations were identified in 90% of the alleles using five oligonucleotide probes for the following mutations: codons 41/42 (deletion-TCTT), IVS II nt 654 (C-->T), codon 17 (A-->T), IVS I nt 5 (G-->C), and -28 TATA box (A-->G). Together with the strategy of direct sequencing, a total of 97% of the mutations were identified. In the Chinese subpopulation, 97% of the mutations were detected by the oligonucleotide probes. Using just four oligonucleotide probes would identify 96% of the mutations, and 76% of the mutations were accounted for by codon 41/42 (-TCTT) and IVS II nt 654 (C-->T) mutations. Thus in this subpopulation early prenatal diagnosis would be possible in virtually all the affected families.

Ng IS; Ong JB; Tan CL; Law HY

1994-10-01

127

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

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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.

Verma S MD; Bhargava M MD; Mittal SK MD; Gupta R MD

2013-01-01

128

A comprehensive molecular characterization of beta thalassemia in a highly heterogeneous population.  

UK PubMed Central (United Kingdom)

In Iran, the prevalence of beta-thalassemia trait is approximately 4-8% in most areas, and in Mazandaran province 10% of the population are carriers. Twenty four beta-globin gene mutations were identified in 1635 persons with beta-thalassemia trait using reverse dot blot and restriction fragment length polymorphism analysis. The predominant mutations included IVSII-1 (G-A) (61%), codon 30 (G-C) (7.5%), codon 22 (-7bp) (6.2%), codon 8 (-AA) (5.4%) and IVSI-5 (G-C) (3.6%). These mutations were in different haplotypes, with IVSII-1 being the most heterogeneous. Other less frequent mutations included IVS-II-745 (C-G), codon 44 (-C), codon 39 (C-T), codon 5 (-CT), IVS I-110 (G-A), IVSI-130 (G-C), Fr8/9 (+G), IVSI-1 (G-A), and IVSI (-25bp). All rare mutations except IVSI-130 were encountered in a unique haplotype. The diversity of these mutations reflects the historical admixture of genes in the region. The high prevalence of IVSII-1 (G-A) compared to other parts of the country and the world suggests a founder effect. Our data provide a basis for genetic counseling and prenatal diagnosis.

Akhavan-Niaki H; Derakhshandeh-Peykar P; Banihashemi A; Mostafazadeh A; Asghari B; Ahmadifard MR; Azizi M; Youssefi A; Elmi MM

2011-06-01

129

A comprehensive molecular characterization of beta thalassemia in a highly heterogeneous population.  

Science.gov (United States)

In Iran, the prevalence of beta-thalassemia trait is approximately 4-8% in most areas, and in Mazandaran province 10% of the population are carriers. Twenty four beta-globin gene mutations were identified in 1635 persons with beta-thalassemia trait using reverse dot blot and restriction fragment length polymorphism analysis. The predominant mutations included IVSII-1 (G-A) (61%), codon 30 (G-C) (7.5%), codon 22 (-7bp) (6.2%), codon 8 (-AA) (5.4%) and IVSI-5 (G-C) (3.6%). These mutations were in different haplotypes, with IVSII-1 being the most heterogeneous. Other less frequent mutations included IVS-II-745 (C-G), codon 44 (-C), codon 39 (C-T), codon 5 (-CT), IVS I-110 (G-A), IVSI-130 (G-C), Fr8/9 (+G), IVSI-1 (G-A), and IVSI (-25bp). All rare mutations except IVSI-130 were encountered in a unique haplotype. The diversity of these mutations reflects the historical admixture of genes in the region. The high prevalence of IVSII-1 (G-A) compared to other parts of the country and the world suggests a founder effect. Our data provide a basis for genetic counseling and prenatal diagnosis. PMID:21493114

Akhavan-Niaki, Haleh; Derakhshandeh-Peykar, Poupak; Banihashemi, Ali; Mostafazadeh, Amrollah; Asghari, Beheshteh; Ahmadifard, Mohammad-Reza; Azizi, Mandana; Youssefi, Ali; Elmi, Maryam Mitra

2011-04-13

130

Exercise-induced myocardial perfusion abnormalities in sickle beta-thalassemia: Tc-99m tetrofosmin gated SPECT imaging study.  

UK PubMed Central (United Kingdom)

PURPOSE: To determine the mechanism of myocardial ischemia in patients with sickle beta-thalassemia, we performed a scintigraphic evaluation of myocardial perfusion during exercise. SUBJECTS AND METHODS: We studied 30 patients with sickle beta-thalassemia, (mean [+/-SD] age, 37 +/- 10 years) who had no electrocardiographic (ECG), radiographic, or echo-Doppler signs of pulmonary hypertension, left ventricular hypertrophy, or impaired contractility. All patients had a hemoglobin level greater than 7 g/dL. Treadmill exercise test was performed according to the Bruce protocol. Myocardial perfusion was assessed by single-photon emission computed tomography, using Tetrofosmin Tc-99 m Myoview as radiotracer, at peak exercise and again 4 hours later. RESULTS: Eight patients (27%) developed stress-induced scintigraphic perfusion abnormalities that were reversible in all but 1 patient. Subsequent coronary angiograms were normal in all 8 patients. ST segment depression was seen during exercise in 5 of the 7 patients who had reversible perfusion defects. Except for a significantly greater white blood cell count, these 5 patients did not differ from the rest of patients by sex, age, hemoglobin level, percentage hemoglobin F, beta-thalassemia genotype, or risk factors for coronary artery disease. Three of the 5 patients with perfusion and ECG abnormalities (and another with only perfusion defects) developed a stress-induced sickling crisis. CONCLUSION: Physical stress may induce myocardial ischemia in sickle beta-thalassemia patients with normal coronary arteries and elicit painful crises. The sickling process, activated by exercise, could be the common underlying mechanism.

Aessopos A; Tsironi M; Vassiliadis I; Farmakis D; Fountos A; Voskaridou E; Perakis A; Defteraios S; Loutradi A; Loukopoulos D

2001-10-01

131

Protection against oxidative stress in beta thalassemia/hemoglobin E erythrocytes by inhibitors of glutathione efflux transporters.  

UK PubMed Central (United Kingdom)

In beta thalassemia/hemoglobin E (Hb E), abnormally high levels of oxidative stress account for accelerated senescence and increased destruction of erythrocytes. The present study aimed to investigate the role of glutathione efflux transporters, namely cystic fibrosis transmembrane conductance regulator (CFTR) and multidrug resistance-associated protein 1 (MRP1), in the control of glutathione levels and protection against oxidative challenges in beta thalassemia/Hb E erythrocytes. We found that CFTR protein was expressed in the erythrocytes of beta thalassemia/Hb E patients. Treatments with GlyH-101 (50 µM), a small molecule CFTR inhibitor, and MK571 (50 µM), an MRP1 inhibitor, reduced H(2)O(2)-induced free radical generation in the erythrocytes by ?80% and 50%, respectively. Furthermore, combined treatment with GlyH-101 and MK571 completely abolished the induction of reactive oxygen radicals. Increased oxidative stress in the erythrocytes following H(2)O(2) challenges was accompanied by a decrease in intracellular level of reduced glutathione (GSH), which was prevented by treatments with GlyH-101 and MK571. CMFDA-based assays revealed that GlyH-101 and MK571 reduced H(2)O(2)-induced glutathione efflux from the erythrocytes by 87% and 66%, respectively. Interestingly, H(2)O(2)-induced osmotic tolerance of erythrocytes, a sign of erythrocyte aging, was ameliorated by treatment with GlyH-101. Our study indicates that oxidative stress induces glutathione efflux via CFTR and MRP1 in beta thalassemia/Hb E erythrocytes. Pharmacological inhibition of glutathione efflux represents a potential therapy to delay aging and premature destruction of erythrocytes in beta thalassemia/Hb E.

Muanprasat C; Wongborisuth C; Pathomthongtaweechai N; Satitsri S; Hongeng S

2013-01-01

132

Oxidative red blood cell membrane injury in the pathophysiology of severe mouse beta-thalassemia.  

UK PubMed Central (United Kingdom)

In severe human beta-thalassemia, the pathophysiology relates to accumulation of excess alpha-globin chains at the membrane. One hypothesis is that membrane-associated alpha-globin by virtue of it's iron or hemichromes produces oxidation of adjacent membrane proteins. The availability of a mouse model of severe beta-thalassemia, as well as a transgenic (thalassemic-sickle) mouse that expresses 12% of human beta s-chain, has allowed us to study the effect of graded accumulation of alpha-chains at the red blood cell (RBC) membrane on the clinical status of the animal and on the material properties of its RBCs. Proteins from control, beta-thalassemic, and transgenic mouse RBC membranes were analyzed for evidence of oxidation, as measured by thiol-disulfide exchange chromatography, which detects intramolecular sulfhydryl oxidation. Ratios of oxidized globin to protein 7 were calculated and increased amounts were seen in thalassemic mice as compared with control mice and transgenic mice. Furthermore, there were increased amounts of thiol-free protein 4.1 in the thalassemic mice, compared with very small amounts in the control mice and intermediate amounts in the transgenic mice. Membrane mechanical stability as assessed by ektacytometry showed that the thalassemic mouse RBCs were markedly unstable. Transgenic mouse RBCs showed intermediate levels of membrane instability compared with the controls. We propose that this oxidized globin, in conjunction with oxidized protein 4.1, accounts (at least in part) for membrane instability. A 12% increase in beta s-globin chain synthesis (by decreasing excess globin available) confers considerable protection against both oxidative damage and the consequent membrane instability.

Advani R; Rubin E; Mohandas N; Schrier SL

1992-02-01

133

Development of single-strand conformational polymorphism to screen for mutations in hotspot regions of beta-globin gene of beta-thalassemia patients of Sri Lanka.  

UK PubMed Central (United Kingdom)

Beta-thalassemia is prevalent in Sri Lanka and imposes a heavy economic and social burden in the country due to the patients' life-long need for regular blood transfusion and treatment with iron chelation therapy. Thus, there is a need to develop a rapid, reliable and effective population-based presymptomatic and prenatal screening method for beta-thalassemia. Single-strand conformational polymorphism (SSCP) technique was developed as an adjunct for the previously developed allele-specific PCR (ASP) technique to screen the presence of mutations in beta-globin gene. A hotspot region of beta-globin gene containing 98% of known beta-thalassemia mutations was amplified from 24 clinically diagnosed beta-thalassemia patients and two normal individuals. Two overlapping amplicons of 238 bp and 268 bp were subjected to SSCP analysis. The SSCP banding patterns of these two fragments from beta-thalassemia patients were different from the corresponding regions of normal individuals. Sequence analysis of these regions revealed the presence of 4 mutations in the form of deletion and substitution that have not been reported previously from Sri Lanka. Therefore, the SSCP protocol developed in this study together with ASP should provide an appropriate screening approach for presymptomatic and parental diagnosis of beta-thalassemia in the Sri Lankan population.

Dassanayake RS; Mahadevan K; Gunawardene YI

2013-01-01

134

Beta-thalassemia intermedia with exceptionally high hemoglobin A2: relationship to mutations in the beta-gene promoter.  

Science.gov (United States)

Small deletions of the 5' portion of the beta-globin gene that remove the promoters but stop 3' to the delta-globin gene are recognized as the sole cause of beta-thalassemia with exceptionally high hemoglobin A2 (HbA2) levels. Two patients with beta-thalassemia intermedia and exceptionally high levels of HbA2 (10.4 and 12.0%) were examined. One patient was a combined heterozygote for the -88 C----T and a novel -87 C----A mutation, while the other was homozygous for the -29 A----G beta(+)-thalassemia mutation. The remainder of the beta genes were normal. There was no evidence for deletions involving the 5' portion of the beta gene or the region between the beta and delta genes. Gene mapping studies excluded the possibility of a beta delta-anti-Lepore hemoglobin gene with beta promoters and delta coding sequences. There were no mutations in the promoters of the G gamma or A gamma-globin genes that have been associated with the hereditary persistence of HbF phenotype. The delta-globin gene promoters were normal from codon 17 to position -145 relative to the mRNA capping site. There appears to be considerable heterogeneity of HbA2 and HbF levels in patients who are homozygous or mixed heterozygotes for mutations in the TATA box and other promoter elements of the beta-globin gene. The capacity for proteolysis within the erythrocyte may vary among individuals. The authors hypothesize that in the exceptionally high HbA2 beta-thalassemia intermedia phenotype, proteolysis of superfluous alpha-globin chains is less efficient than in patients with customary levels of HbA2.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:1380206

Coleman, M B; Adams, J G; Plonczynski, M W; Harrell, A H; Walker, A M; Fairbanks, V; Steinberg, M H

1992-08-01

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Beta-thalassemia intermedia with exceptionally high hemoglobin A2: relationship to mutations in the beta-gene promoter.  

UK PubMed Central (United Kingdom)

Small deletions of the 5' portion of the beta-globin gene that remove the promoters but stop 3' to the delta-globin gene are recognized as the sole cause of beta-thalassemia with exceptionally high hemoglobin A2 (HbA2) levels. Two patients with beta-thalassemia intermedia and exceptionally high levels of HbA2 (10.4 and 12.0%) were examined. One patient was a combined heterozygote for the -88 C----T and a novel -87 C----A mutation, while the other was homozygous for the -29 A----G beta(+)-thalassemia mutation. The remainder of the beta genes were normal. There was no evidence for deletions involving the 5' portion of the beta gene or the region between the beta and delta genes. Gene mapping studies excluded the possibility of a beta delta-anti-Lepore hemoglobin gene with beta promoters and delta coding sequences. There were no mutations in the promoters of the G gamma or A gamma-globin genes that have been associated with the hereditary persistence of HbF phenotype. The delta-globin gene promoters were normal from codon 17 to position -145 relative to the mRNA capping site. There appears to be considerable heterogeneity of HbA2 and HbF levels in patients who are homozygous or mixed heterozygotes for mutations in the TATA box and other promoter elements of the beta-globin gene. The capacity for proteolysis within the erythrocyte may vary among individuals. The authors hypothesize that in the exceptionally high HbA2 beta-thalassemia intermedia phenotype, proteolysis of superfluous alpha-globin chains is less efficient than in patients with customary levels of HbA2.(ABSTRACT TRUNCATED AT 250 WORDS)

Coleman MB; Adams JG 3rd; Plonczynski MW; Harrell AH; Walker AM; Fairbanks V; Steinberg MH

1992-08-01

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Compliance and satisfaction with deferasirox (Exjade(®)) compared with deferoxamine in patients with transfusion-dependent beta-thalassemia.  

UK PubMed Central (United Kingdom)

OBJECTIVE: The current standard option for iron chelation therapy (ICT) in transfusion-dependent patients with beta-thalassemia is deferoxamine (DFO). We aimed to compare the compliance with DFO vs. deferasirox (Exjade(®)), a novel oral iron chelator, in patients with transfusion-dependent beta-thalassemia. METHODS: In this cross-sectional study, 220 patients from Southern Iran who were receiving DFO or Exjade(®) for the last 2 years were investigated in 2012. Satisfaction, compliance, convenience, and life disturbances of the patients with ICT were evaluated. Assessments were performed at four different occasions during 1 year. RESULTS: According to the results, 114 patients received treatment with DFO and 106 patients were treated with Exjade(®). In comparison with the patients who were treated with DFO, those receiving Exjade(®) reported a significantly higher rate of compliance and convenience (P < 0.05). However, no significant difference was observed between the two groups regarding their satisfaction (P > 0.05). In the DFO group, 44.9% of the patients reported irritation and pain at the injection site. CONCLUSIONS: Considering higher rate of compliance and convenience with Exjade(®) and the comparable efficacy of these two modalities of ICT documented in previous studies, Exjade(®) can be used as a preferable choice of ICT in iron-overload patients with beta-thalassemia.

Haghpanah S; Zarei T; Zahedi Z; Karimi M

2013-09-01

137

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

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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; 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

2011-01-01

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Clinical, hematological and genetic features of sickle-cell anemia and sickle cell-beta thalassemia in a Brazilian population.  

Science.gov (United States)

Clinical, hematological and genetic studies were carried out on 40 patients with symptomatic sickle-cell disease, selected on the basis of a predominant HbS fraction and absence of other abnormal hemoglobin variants. Family studies showed they included 26 homozygotes for the sickle-cell gene (SS) and 14 double heterozygotes for both the sickle-cell and the (0)beta-thalassemia genes ((S)(0)beta-thalassemia). Comparison of the two groups revealed the more common occurrence of splenomegaly, lower MCV and mCH, and higher HbA2 in (S)(0)beta-thalassemia. Total hemoglobin was slightly lower in SS disease but the difference was not significant. Fetal hemoglobin (HbF) was moderately elevated to similar levels in both groups. These results suggest a high incidence of S beta (0)-thalassemia in certain Brazilian mixed populations and confirm the severity of the double heterozygous state. The distinction between the two disorders is often difficult, but can be made on the basis of the hematological data taken together with family studies. PMID:7418254

Zago, M A; Costa, F F; Freitas, T C; Bottura, C

1980-07-01

139

Apolipoprotein E gene polymorphism and the risk of left ventricular dysfunction among Egyptian ?-thalassemia major.  

UK PubMed Central (United Kingdom)

In Egypt, ?-thalassemia is the most common hereditary hemolytic anemia. Cardiac dysfunction, secondary to iron overload with formation of oxygen free radicals, is the most common cause of death in ?-thalassemia patients. This study was designed to determine whether the allelic genotype of apolipoprotein E (Apo E), which exhibits antioxidant properties, could represent a genetic risk factor for the development of left ventricular (LV) dysfunction in ?-thalassemia major. Fifty Egyptian ?-thalassemia major patients were subjected to echocardiography to assess LV function. Apo E genotyping by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) was done for all patients in addition to 50 age and sex matched healthy control subjects. Patients were classified into three groups. Group I and II were clinically asymptomatic. Group II subjects had evidence of LV dilatation, while Group III patients had clinical and echocardiographic findings of LV failure. Apo E4 allele was significantly higher among Group II and III than in controls. In conclusion, Apo E4 allele can be considered as a genetic risk factor for LV dysfunctions in ?-thalassemic patients. It could be used as predictive indicator for additional risk of LV failure, particularly in asymptomatic patients with LV dilatation, requiring a closer follow-up, to prevent further disease progression.

El-Tagui MH; Hamdy MM; Shaheen IA; Agha H; Abd-Elfatah HA

2013-07-01

140

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.

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

2013-01-01

 
 
 
 
141

[Simple and rapid analysis of beta-thalassemia mutation by sequence-specific amplification].  

UK PubMed Central (United Kingdom)

This study was done to detect and diagnose beta-thalassemia (beta-Thal) gene quickly. We applied sequence specific Amplification (SSA) method to the analysis. 13 kinds of beta-Thal and two kinds of hemoglobin variants were able to detect under the same PCR condition. These mutations were found frequently in ten countries of Asian region (the southern part of China, Vietnam, Cambodia, Thailand, Myanmar, Malaysia, Singapore, Indonesia, Pakistan, India), and 15 kinds in total (-28CapA-->G, CD5-CT, CD8/9+-G, CD15G-->A, CD17A-->T, IVSI-1G-->T, CD41/42-4del, CD16-C, CD26G-->A(betaE), IVSI-5G-->C, CD35C-->A, CD71/72 +A, CD6A-->T (betaS), -619del, IVSII-654C-->T). More than 80% of patients are included in these mutations. To make the reagents a kit, the procedure became simple and rapid. DNA was extracted by salting out method. The PCR product was detected by polyacrylamide gel electrophoresis and silver staining. The confirmation of the variant was done by the PCR-direct sequencing method. It took approximately six hours for PCR reaction, electrophoresis and staining. This method made us to detect and diagnose beta-Thal in one day.

Harano K; Harano T

2013-03-01

142

A novel epsilon gamma delta beta thalassemia presenting with pregnancy complications and severe neonatal anemia.  

UK PubMed Central (United Kingdom)

OBJECTIVE: The epsilon gamma delta beta (????)-thalassemias are rare sporadic disorders caused by deletion of the ?-globin gene cluster. The main clinical feature is marked prenatal and neonatal anemia that resolves spontaneously within a few months. Reports originating mainly from Europe have so far identified 30 such deletions The aim of the present work was to describe a novel 1.78-Mb deletion, the longest ever reported, and to detail the clinical features in 12 members of an extended Bedouin family. METHODS: The deletion was identified by globin gene multiplex ligation-dependent probe amplification (MLPA) of the ?-globin cluster and further characterized by comparative genomic hybridization. Past and present clinical and laboratory data of ten symptomatic and two asymptomatic patients were collected. RESULTS: A 1.78-Mb ????-deletion, the largest ever described, was identified in all patients. Although other genes were included in the deletion, no other symptoms were observed. Of the ten symptomatic fetuses and neonates, three died of the disease. The remainder required packed cell transfusions during the first months of life. Pregnancy complications included intrauterine growth restriction and oligohydramnios, as well as additional neonatal complications including prematurity and persistent pulmonary hypertension of the neonate. CONCLUSIONS: We suggest that ????-thalassemia be added to the list of hemoglobinopathies that can cause neonatal anemia and that MLPA of the ?-globin cluster be used to confirm its diagnosis. Careful surveillance during pregnancy is important to reduce neonatal mortality and morbidity, especially given the dramatic improvement that occurs later.

Shalev H; Landau D; Pissard S; Krasnov T; Kapelushnik J; Gilad O; Broides A; Dgany O; Tamary H

2013-02-01

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

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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.

Shamshirsaz Alireza; Bekheirnia Mir Reza; Kamgar Mohammad; Pourzahedgilani Nima; Bouzari Navid; Habibzadeh Mohammadreza; Hashemi Reza; Shamshirsaz Amirhooshang; Aghakhani Shahriar; Homayoun Hooman; Larijani Bagher

2003-01-01

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

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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.

H. Choobineh; S.H. Alizadeh; M.K. Sharifi Yazdi; F. Vaezzadeh; H. Dargahi; A.A. Pourfatholah

2007-01-01

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

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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...

H. Choobineh; S.H. Alizadeh; M.K. Sharifi Yazdi; F. Vaezzadeh; H. Dargahi; A.A. Pourfatholah

146

A new valid formula in differentiating iron deficiency Anemia from beta-thalassemia trait  

International Nuclear Information System (INIS)

Objective: To compare the validity of a new index (Hb X RDW X 100/ (RBC)/sup 2/ X MCHC) with twelve discriminating functions (DFs) to differentiate iron deficiency anemia (IDA) and beta-thalassemia trait (beta-TT). Methodology: A total of 823 patients (317 IDA and 506 beta-TT) aged 15 to 35 year old were enrolled in this study. The diagnostic sensitivity, specificity and other validity parameters were calculated to assess the diagnostic reliability of the novel index [Keikhaei index (KI)] vis-a-vis the other published DFs [Mentzer Index (MI), Green and King Index (G and KI), red cell distribution width index (RDWI), England and Fraser Index (E and FI), Bessman and Feinstein index (B and FI), Telmissani et al index (TI), Srivastava and Bevington index (S and BI), Shine and Lal index (S and LI), Ricerca et al index (RI), Ehsani et al index (EI), Sirdah et al index (SI), and Red Blood Cell Count(RBC)] were calculated in all patients. Results: All thirteen DFs did not have the sensitivity and specificity of 100%. The KI, RDWI, Gand KI and E and FI showed the most sensitivity and specificity for both IDA and TT; moreover, the lowest reliable indices belonged to B and FI, SandLI and RI. Conclusion: According to Youden's index (YI), DFs in the order of highest to lowest were KI > G and KI > RDWI > E and FI > RBC> M I> EI > TI > SI > S and BI > RI> SandLI >B and FI. (author)

2010-01-01

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

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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; Haleh Akhavan Niaki; Mehrnoosh Kowsarian; Aily Aliasgharian; Ali Banihashemi

2008-01-01

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Transient elastography in hepatitis C virus-infected patients with beta-thalassemia for assessment of fibrosis.  

UK PubMed Central (United Kingdom)

AIM: We sought to evaluate the performance of transient elastography (TE) for the assessment of liver fibrosis in chronic hepatitis C (CHC) patients with beta-thalassemia. METHODS: Seventy-six CHC patients with beta-thalassemia underwent TE, liver biopsy, T2 -weighted magnetic resonance imaging (MRI) for the assessment of liver iron content (LIC) and laboratory evaluation. The accuracy of TE and its correlation with the other variables was assessed. RESULTS: TE values increased proportional to fibrosis stage (r?=?0.404, P?beta-thalassemia. However, because splenectomy in a proportion of our subjects might have affected the platelet count, the scores utilizing APRI and FIB-4 should be interpreted cautiously.

Poustchi H; Eslami M; Ostovaneh MR; Modabbernia A; Saeedian FS; Taslimi S; George J; Malekzadeh R; Zamani F

2013-02-01

149

Variable severity of beta-thalassemia patients of eastern India: effect of alpha-thalassemia and xmnI polymorphism.  

Science.gov (United States)

Sixty-four thalassemia and E-beta thalassemia patients were studied for factors that modulate the severity of the disease; i.e., mutation of beta-globin gene, presence of alpha-deletion, and presence of an XmnI site at the -158 position of the Gy gene. Presence of alpha-deletion and/or homozygosity for the XmnI site was in general associated with less-severe disease. About 12% of the patients harbored single alpha-gene deletion, and the gene frequency of the XmnI polymophism in these patients is 0.48. PMID:11833853

Bandyopadhyay, S; Roychowdhury, K; Chandra, S; Das, M; Dasgupta, U B

2001-09-01

150

Variable severity of beta-thalassemia patients of eastern India: effect of alpha-thalassemia and xmnI polymorphism.  

UK PubMed Central (United Kingdom)

Sixty-four thalassemia and E-beta thalassemia patients were studied for factors that modulate the severity of the disease; i.e., mutation of beta-globin gene, presence of alpha-deletion, and presence of an XmnI site at the -158 position of the Gy gene. Presence of alpha-deletion and/or homozygosity for the XmnI site was in general associated with less-severe disease. About 12% of the patients harbored single alpha-gene deletion, and the gene frequency of the XmnI polymophism in these patients is 0.48.

Bandyopadhyay S; Roychowdhury K; Chandra S; Das M; Dasgupta UB

2001-09-01

151

Egyptian wheat  

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Wheat as the major cereal crop in Egypt is the core of the government's food security policy. But there are rapid losses of the genetic resources of the country as a result of ongoing modernization and development. Thus we compiled the largest possible number of Egyptian accessions preserved in the ...

Gowayed, Salah

152

Low prevalence of cardiac siderosis in heavily iron loaded Egyptian thalassemia major patients.  

UK PubMed Central (United Kingdom)

Myocardial siderosis in thalassemia major remains the leading cause of death in developing countries. Once heart failure develops, the outlook is usually poor with precipitous deterioration and death. Cardiovascular magnetic resonance (CMR) can measure cardiac iron deposition directly using the magnetic relaxation time T2*. This allows earlier diagnosis and treatment and helps to reduce mortality from this cardiac affection. This study aims to determine the prevalence of cardiac siderosis in Egyptian patients who are heavily iron loaded and its relation to liver iron concentration, serum ferritin, and left ventricular ejection fraction. Eighty-nine ?-thalassemia patients receiving chelation therapy (mean age of 20.8?±?6.4 years) were recruited in this study. Tissue iron levels were determined by CMR with cardiac T2* and liver R2*. The mean ± standard deviation (range) of cardiac T2* was 28.5?±?11.7 ms (4.3 to 53.8 ms), the left ventricular ejection fraction (LVEF) was 67.7?±?4.7 % (55 to 78 %), and the liver iron concentration (LIC) was 26.1?±?13.4 mg Fe/g dry weight (dw) (1.5 to 56 mg Fe/g dw). The mean serum ferritin was 4,510?±?2,847 ng/ml (533 to 22,360 ng/ml), and in 83.2 %, the serum ferritin was >2,500 ng/ml. The prevalence of myocardial siderosis (T2* of <20 ms) was 24.7 % (mean age 20.9?±?7.5 years), with mean T2* of 12.7?±?4.4 ms, mean LVEF of 68.6 ±5.8 %, mean LIC of 30.9?±?13 mg Fe/g dw, and median serum ferritin of 4,996 ng/ml. There was no correlation between T2* and age, LVEF, LIC, and serum ferritin (P?=?0.65, P?=?0.085, P?=?0.99, and P?=?0.63, respectively). Severe cardiac siderosis (T2* of <10 ms) was present in 7.9 %, with a mean age of 18.4?±?4.4 years. Although these patients had a mean T2* of 7.8?±?1.7 ms, the LVEF was 65.1?±?6.2 %, and only one patient had heart failure (T2* of 4.3 ms and LVEF of 55 %). LIC and serum ferritin results were 29.8?±?17.0 mg/g and 7,200?±?6,950 ng/ml, respectively. In this group of severe cardiac siderosis, T2* was also not correlated to age (P?=?0.5), LVEF (P?=?0.14), LIC (P?=?0.97), or serum ferritin (P?=?0.82). There was a low prevalence of myocardial siderosis in the Egyptian thalassemia patients in spite of very high serum ferritin and high LIC. T2* is the best test that can identify at-risk patients who can be managed with optimization of their chelation therapy. The possibility of a genetic component for the resistance to cardiac iron loading in our population should be considered.

El Beshlawy A; El Tagui M; Hamdy M; El Ghamrawy M; Azim KA; Salem D; Said F; Samir A; Pierre TS; Pennell DJ

2013-08-01

153

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 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 foram determinados em pacientes com anemia ferropriva (n = 49) e com beta-talassemia heterozigótica (n = 43). Não houve diferença significativa entre os valores de re (more) ticulócitos 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 anemia patients (n = 49) and heterozygous beta-thalassemia patients (n = 43). There was no significant difference in high-fluorescence reticulocyte and soluble transferrin recept (more) or 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.

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

2003-01-01

154

[Hemolytic disease of the newborn and chronic hypochromic microcytic anemia in one family: gamma-delta-beta thalassemia  

UK PubMed Central (United Kingdom)

Ten newborn infants, all belonging to one family, suffered from severe hemolytic anemia. Four babies died shortly before or after birth, six recovered (one spontaneously, 5 after one or more exchange transfusions). In 5 out of 8 patients a mixed hyperbilirubinemia was observed in the immediate postnatal period, with elevated levels of indirect- as well as direct-reacting bilirubin. After the neonatal period, a slight hypochromic, microcytic anemia persisted, without icterus but with decreased osmotic fragility of the erytrocytes and with target cells in the blood smear. The same hematological picture was observed in one of the parents of each affected baby. All anemic adults belong to one large family; therefore, a dominant mode of inheritance is most likely. Although the hematological findings are suggestive for beta-thalassemia normal HbF and HbA2 levels were observed. In vitro incorporation of radioactive leucine into globin chains in reticulocytes demonstrated defective synthesis of beta chains in the affected adults; in two affected infants the same technique showed defective gamma-chain synthesis as well. Analysis of the hemoglobin genes proved that the affected family members are suffering from heterozygous gamma-delta-beta-thalassemia, as originally described by Kan et al. (1972).

Oort M; Heerspink W; Roos D; Bernini LF

1981-12-01

155

A novel delta beta fusion gene expresses hemoglobin A (HbA) not Hb Lepore: Senegalese delta(0)beta(+) thalassemia.  

Science.gov (United States)

This study identified and characterized a novel delta beta fusion gene in which the delta-globin gene promoter is linked to intact beta-globin coding sequences in a Senegalese family. It results from a 7.4-kb deletion that removes the delta-globin coding sequences, the delta beta intergenic region as well as the beta-globin gene promoter and causes delta(0)beta(+) thalassemia with hemoglobin A expressed at the 11% to 15% range. The phenotype of this naturally occurring delta beta hybrid gene not only clarifies, in an in vivo context, the respective strength of delta- and beta-globin gene promoters, but also emphasizes the importance of beta-globin intragenic sequences in the expression of beta-globin chains. (Blood. 2001;98:1261-1263) PMID:11493481

Zertal-Zidani, S; Ducrocq, R; Weil-Olivier, C; Elion, J; Krishnamoorthy, R

2001-08-15

156

A novel delta beta fusion gene expresses hemoglobin A (HbA) not Hb Lepore: Senegalese delta(0)beta(+) thalassemia.  

UK PubMed Central (United Kingdom)

This study identified and characterized a novel delta beta fusion gene in which the delta-globin gene promoter is linked to intact beta-globin coding sequences in a Senegalese family. It results from a 7.4-kb deletion that removes the delta-globin coding sequences, the delta beta intergenic region as well as the beta-globin gene promoter and causes delta(0)beta(+) thalassemia with hemoglobin A expressed at the 11% to 15% range. The phenotype of this naturally occurring delta beta hybrid gene not only clarifies, in an in vivo context, the respective strength of delta- and beta-globin gene promoters, but also emphasizes the importance of beta-globin intragenic sequences in the expression of beta-globin chains. (Blood. 2001;98:1261-1263)

Zertal-Zidani S; Ducrocq R; Weil-Olivier C; Elion J; Krishnamoorthy R

2001-08-01

157

Beta + thalassemia--Portuguese type: clinical, haematological and molecular studies of a newly defined form of beta thalassaemia.  

Science.gov (United States)

We have characterized 14 patients in 10 families with a mild form of homozygous beta thalassemia which has not been previously well defined. As these patients originate from a small area of northern Portugal we propose to call this beta + thalassaemia--Portuguese type. Clinically, the homozygotes range from asymptomatic to thalassaemia intermedia and they are characterized by low levels of HbF, less than 20%, indicating only a mild deficit in beta globin production. Heterozygotes are indistinguishable from those with the more common types of beta thalassaemia as regards red cell morphology, haemoglobin analysis and globin chain synthesis studies. Globin gene mapping excluded the presence of alpha thalassaemia in these patients and demonstrated no abnormalities in the beta-like globin gene cluster. Restriction enzyme site polymorphisms around the beta gene cluster are identical on both chromosomes in all of the homozygotes, confirming their homogeneity. PMID:6189507

Tamagnini, G P; Lopes, M C; Castanheira, M E; Wainscoat, J S; Wood, W G

1983-06-01

158

Beta + thalassemia--Portuguese type: clinical, haematological and molecular studies of a newly defined form of beta thalassaemia.  

UK PubMed Central (United Kingdom)

We have characterized 14 patients in 10 families with a mild form of homozygous beta thalassemia which has not been previously well defined. As these patients originate from a small area of northern Portugal we propose to call this beta + thalassaemia--Portuguese type. Clinically, the homozygotes range from asymptomatic to thalassaemia intermedia and they are characterized by low levels of HbF, less than 20%, indicating only a mild deficit in beta globin production. Heterozygotes are indistinguishable from those with the more common types of beta thalassaemia as regards red cell morphology, haemoglobin analysis and globin chain synthesis studies. Globin gene mapping excluded the presence of alpha thalassaemia in these patients and demonstrated no abnormalities in the beta-like globin gene cluster. Restriction enzyme site polymorphisms around the beta gene cluster are identical on both chromosomes in all of the homozygotes, confirming their homogeneity.

Tamagnini GP; Lopes MC; Castanheira ME; Wainscoat JS; Wood WG

1983-06-01

159

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

UK PubMed Central (United Kingdom)

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.

Diop MM; Toure PS; Leye MY; Leye A; El Fadjri S; Diop M; Ka MM; Diop OD; Fall S; Ndiaye FS

2012-01-01

160

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

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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; Sandra B. R. Picado

2009-01-01

 
 
 
 
161

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 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 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 (more) . 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.

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

2010-02-01

162

[Analysis of single nucleotide polymorphism in the human beta-globin gene of patients with minor beta-thalassemia from Wenzhou].  

UK PubMed Central (United Kingdom)

This study was aimed to analyze the hematologic and molecular biologic characteristics of 14 Wenzhou patients with minor beta-thalassemia, to find out the mutation sites responsible for the disease by detecting sequences of PCR products and to analyze the single nucleotide polymorphism. The peripheral blood of patients was collected intravenously and was anticoagulated with EDTA-K(2); then the templates from blood samples were extracted, the related primers were designed for sequencing the products amplified by PCR; finally mutation sites resulting in beta-thalassemia were found through comparison and analysis of sequences. The results indicated that the C-->T heterozygous mutation occurred at the IVS-2 -654 site in 4 cases; the TTCT deficiency appeared at CD41/42 site in 1 case; in 2 sites existed single nucleotide polymorphisms occurring at the 59th site of exon 1 (T/C, CAT/CAC, His) and IVS-2 nt 665 (T/C). It is concluded that single nucleotide polymorphism of minor beta-thalassemia patients born in Wenzhou had specificity, this study found too kinds of gene mutations which are IVS-2 -654 C-->T heterozygous mutation and CD41/CD42 site-TTCT deficiency.

Zheng MQ; Wu Y; Li PZ; Li BQ; Ding HX

2008-10-01

163

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 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 (Hemoglobina = 7,9 g/dl, Volume Corpuscular Médio = 76fl, Hemoblobina Corpuscular Média = 26 pg) e a eletroforese de hemoglobina revelou Hemoglobina Fetal = 14,2%, Hemoglob (more) ina 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 (hemoglobin = 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 (more) 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.

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

2003-01-01

164

Role of hemichrome binding to erythrocyte membrane in the generation of band-3 alterations in beta-thalassemia intermedia erythrocytes.  

UK PubMed Central (United Kingdom)

Nine splenectomized, hematologically well-compensated beta-thalassemia intermedia patients randomly chosen from a pool of 60 similar patients were studied. Membrane proteins solubilized with nondenaturing detergent C12E8 were gel filtered on Sepharose CL-6B (Pharmacia Fine Chemicals, Uppsala, Sweden). Fractions containing higher than 4,000-kD molecular-weight aggregates were isolated and analyzed. Four patients had remarkably increased amounts of membrane-bound hemichromes and Igs. In those patients, band 3 underwent oxidative modifications such as aggregation and a decrease in sulfhydryl groups. The other five patients had low amounts of membrane-bound hemichromes and less modifications of band 3. The same band-3 modifications could be reproduced by challenging normal membranes with artificially generated hemichromes or with hemolysates prepared from thalassemic erythrocytes of the high-hemichrome group. Addition of reduced glutathione to the challenged membranes did not hinder hemichrome binding, but prevented oxidative modifications of band 3 and Ig binding to high-molecular-weight band-3 aggregates. Hemichrome binding to band 3, hemichrome-mediated oxidation of band-3 cytoplasmic domains, generation of high-molecular-weight band-3 aggregates, and enhanced opsonization by anti-band-3 antibodies is a possible sequence of events leading to phagocytic removal of erythrocytes in thalassemia.

Mannu F; Arese P; Cappellini MD; Fiorelli G; Cappadoro M; Giribaldi G; Turrini F

1995-09-01

165

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; E. Shahgholi; M.S. Rahiminejad; F. Seighali; A. Rashidi

2009-01-01

166

Reliability of red blood cell indices and formulas to discriminate between beta thalassemia trait and iron deficiency in children.  

Science.gov (United States)

Iron deficiency (ID) and beta thalassemia trait (betaTT) are the most common causes of hypochromia and microcytosis. This study evaluates the reliability of some of the red blood cell (RBC) indices and the formulas used in the differentiation between betaTT and ID in a cohort of 458 children aged between 1.8 and 7.5 years (mean age 5.6+/-1.7 years) with mild hypochromic microcytic anemia. Within this group, 243 were confirmed with ID and 215 with betaTT. Red cell indices derived from automated red cell analyzers were used to evaluate the following discriminant indices and formulas: Mentzer Index (MI), Green and King Index (G&K), England and Fraser Index (E&F), RBC Distribution Width Index (RDWI), RBC distribution width (RDW) and RBC count. Sensitivity (SENS), specificity (SPEC), positive and negative prognostic value, efficiency (EFF) and Youden's Index (YI) were evaluated. For each index or formula Gauss curves were constructed. The highest SENS was obtained with RDWI (78.9%), while the highest SPEC and YI with E&F (99.1 and 64.2% respectively), the highest EFF (80.2%) with G&K. Gauss curves obtained from betaTT and ID children showed a different degree of overlap for each formula or index. In conclusion, none of RBC indices or formulas appears reliable to discriminate between betaTT and ID subjects. PMID:20423571

Ferrara, M; Capozzi, L; Russo, R; Bertocco, F; Ferrara, D

2010-04-01

167

Reliability of red blood cell indices and formulas to discriminate between beta thalassemia trait and iron deficiency in children.  

UK PubMed Central (United Kingdom)

Iron deficiency (ID) and beta thalassemia trait (betaTT) are the most common causes of hypochromia and microcytosis. This study evaluates the reliability of some of the red blood cell (RBC) indices and the formulas used in the differentiation between betaTT and ID in a cohort of 458 children aged between 1.8 and 7.5 years (mean age 5.6+/-1.7 years) with mild hypochromic microcytic anemia. Within this group, 243 were confirmed with ID and 215 with betaTT. Red cell indices derived from automated red cell analyzers were used to evaluate the following discriminant indices and formulas: Mentzer Index (MI), Green and King Index (G&K), England and Fraser Index (E&F), RBC Distribution Width Index (RDWI), RBC distribution width (RDW) and RBC count. Sensitivity (SENS), specificity (SPEC), positive and negative prognostic value, efficiency (EFF) and Youden's Index (YI) were evaluated. For each index or formula Gauss curves were constructed. The highest SENS was obtained with RDWI (78.9%), while the highest SPEC and YI with E&F (99.1 and 64.2% respectively), the highest EFF (80.2%) with G&K. Gauss curves obtained from betaTT and ID children showed a different degree of overlap for each formula or index. In conclusion, none of RBC indices or formulas appears reliable to discriminate between betaTT and ID subjects.

Ferrara M; Capozzi L; Russo R; Bertocco F; Ferrara D

2010-04-01

168

Evaluation of indices in differentiation between iron deficiency anemia and beta-thalassemia trait for Chinese children.  

UK PubMed Central (United Kingdom)

SUMMARY: Iron deficiency anemia (IDA) and beta-thalassemia trait (beta-TT) are the most common microcytic anemia. Kinds of discrimination indices have been established as simple, fast, and inexpensive means since 1970s. This study evaluates the validity of 12 indices in differentiation between IDA and beta-TT for Chinese children. The 12 discrimination indices were red blood cell (RBC) count, RBC distribution width, Mentzer Index, Green and King Index, RBC distribution width Index, England and Fraser Index, Shine and Lal Index, Srivastava Index, Ricerca Index, Ehsani Index, Sirdah Index, and Huber-Herklotz-Index. A total of 300 children (beta-TT, n=127 and IDA, n=173) were enrolled in the study. We calculated the sensitivity and specificity, positive and negative predictive values, and Youden's index for each index. We also established new cut-off values by receiver operating characteristic curves. Green and King Index showed the highest reliability, as it had the largest area under the curve (AUC=0.947), whereas Srivastava Index and Shine and Lal Index showed the lowest reliability (AUC=0.679 and 0.532, respectively). We concluded Green and King Index, Ricerca Index, and England and Fraser Index could be used in discrimination between IDA and beta-TT in Chinese children.

Shen C; Jiang YM; Shi H; Liu JH; Zhou WJ; Dai QK; Yang H

2010-08-01

169

A new index for discrimination between iron deficiency anemia and beta-thalassemia minor: results in 284 patients.  

UK PubMed Central (United Kingdom)

The present study reports the results in 284 patients of applying a recently developed index, MCV-(10 x RBC), for discrimination between beta-thalassemia trait (beta-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 beta-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.

Ehsani MA; Shahgholi E; Rahiminejad MS; Seighali F; Rashidi A

2009-03-01

170

A new index for discrimination between iron deficiency anemia and beta-thalassemia minor: results in 284 patients.  

Science.gov (United States)

The present study reports the results in 284 patients of applying a recently developed index, MCV-(10 x RBC), for discrimination between beta-thalassemia trait (beta-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 beta-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. PMID:19579993

Ehsani, M A; Shahgholi, E; Rahiminejad, M S; Seighali, F; Rashidi, A

2009-03-01

171

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.

Akhlaghpoor Shahram; Hoseini Morteza; Jafarisepehr Amirhosein

2010-01-01

172

The influence of the BCL11A polymorphism on the phenotype of patients with beta thalassemia could be affected by the beta globin locus control region and/or the Xmn1-HBG2 genotypic background.  

Science.gov (United States)

To study the influence of the ? globin locus control region (LCR) genotypic background on the phenotype modifying role of BCL11A polymorphisms, 100 cases of thalassemia, 48 homozygous for the A allele and 52 homozygous for the G allele at the 5'HS4-LCR palindromic polymorphic site were genotyped for two BCL11A single nucleotide polymorphisms (rs11886868 and rs766432) in the intronic region of this gene. The effect of these polymorphisms on HbF variation was also examined in 122 normal individuals. The 5'HS4-LCR had the most significant role in determining the phenotype of these thalassemia patients. BCL11A polymorphisms showed a significant role in determining the phenotype of patients homozygous for the G allele at 5'HS4-LCR. However, the majority of patients homozygous for the A allele at 5'HS4-LCR, showed a severe phenotype, regardless of the BCL11A genotype. These results, without undermining the strength of BCL11A as a silencer of the ? globin gene, suggest that the LCR background, by governing the state of BCL11A binding to this region, plays a more significant role in determining the thalassemia phenotype than the level of BCL11A protein expression, that might be influenced by single nucleotide polymorphisms in intronic regions of the BCL11A gene. Functional studies to confirm the interactions between BCL11A and LCR could be useful in designing pharmacogenetic strategies for the treatment of beta thalassemia major. PMID:23541515

Neishabury, Maryam; Zamani, Fahimeh; Keyhani, Elahe; Azarkeivan, Azita; Abedini, Seyedeh Sedigheh; Eslami, Masumeh Sadat; Kakroodi, Setareh Talebi; Vesiehsari, Mahjoobeh Jafari; Najmabadi, Hossein

2013-03-28

173

The influence of the BCL11A polymorphism on the phenotype of patients with beta thalassemia could be affected by the beta globin locus control region and/or the Xmn1-HBG2 genotypic background.  

UK PubMed Central (United Kingdom)

To study the influence of the ? globin locus control region (LCR) genotypic background on the phenotype modifying role of BCL11A polymorphisms, 100 cases of thalassemia, 48 homozygous for the A allele and 52 homozygous for the G allele at the 5'HS4-LCR palindromic polymorphic site were genotyped for two BCL11A single nucleotide polymorphisms (rs11886868 and rs766432) in the intronic region of this gene. The effect of these polymorphisms on HbF variation was also examined in 122 normal individuals. The 5'HS4-LCR had the most significant role in determining the phenotype of these thalassemia patients. BCL11A polymorphisms showed a significant role in determining the phenotype of patients homozygous for the G allele at 5'HS4-LCR. However, the majority of patients homozygous for the A allele at 5'HS4-LCR, showed a severe phenotype, regardless of the BCL11A genotype. These results, without undermining the strength of BCL11A as a silencer of the ? globin gene, suggest that the LCR background, by governing the state of BCL11A binding to this region, plays a more significant role in determining the thalassemia phenotype than the level of BCL11A protein expression, that might be influenced by single nucleotide polymorphisms in intronic regions of the BCL11A gene. Functional studies to confirm the interactions between BCL11A and LCR could be useful in designing pharmacogenetic strategies for the treatment of beta thalassemia major.

Neishabury M; Zamani F; Keyhani E; Azarkeivan A; Abedini SS; Eslami MS; Kakroodi ST; Vesiehsari MJ; Najmabadi H

2013-08-01

174

Predictive value of discrimination indices in differential diagnosis of iron deficiency anemia and beta-thalassemia trait.  

UK PubMed Central (United Kingdom)

OBJECTIVES: Iron deficiency anemia (IDA) and beta-thalassemia trait (B-TT) are the most common causes of hypochromic microcytic anemias. Many indices have been defined to quickly discriminate these similar entities via parameters obtained from automated blood count analyzers. The purpose of the study was to evaluate the predictive value of these indices in differential diagnosis of IDA and B-TT in adult cases. METHODS: This study consists of 45 IDA cases, 36 women and nine men, whose mean age is 33.87 +/- 11.59 (mean +/- SD) (range 17-57 yr) and 66 B-TT cases, 41 women and 25 men, whose mean age is 33.26 +/- 13.36 (mean +/- SD) (range 14-74 yr). IDA cases with Hb value <8.7 g/dL have been excluded because these cases are not confused with B-TT cases in practice. Patient groups have been evaluated according to red blood cell (RBC), red blood cell distribution width (RDW), Mentzer index, Shine and Lal indices, England and Fraser indices, Srivastava index, Green and King indices, RDW index and Ricerca index. Sensitivity, specificity, positive and negative predictive values and Youden's index have been calculated. RESULTS: Finally, none of these different formulations are superior to RBC value obtained from automated analyzers in adult cases with IDA and B-TT. CONCLUSIONS: Total body iron status and hemoglobin A(2) level should be obtained for accurate differential diagnosis of IDA and B-TT until more efficient tools develop.

Beyan C; Kaptan K; Ifran A

2007-06-01

175

Genotypic correlation between six common beta-thalassemia mutations and the XmnI polymorphism in the Moroccan population.  

UK PubMed Central (United Kingdom)

beta-Thalassemia (thal) is the most common recessive inherited disorder in Mediterranean populations. It is estimated that the frequency of this disease in the Moroccan population is between 1.5 and 3.0%. Severe forms of homozygous thalassemia cases require expensive and technically demanding curative (bone marrow transplantation) or palliative (chronic transfusion/chelation) therapies. The -158 (C-->T) polymorphism of the (G)gamma-globin gene (XmnI polymorphism) is known to ameliorate the severity of the disease because of it strong association with an increased production of fetal hemoglobin (Hb F). Among the many known mutations in Morocco, six are common [codon 39 (C-->T), frameshift codon (FSC) 8 (-AA), IVS-II-745 (CG), FSC 6 (-A), -29 (A-->G) and IVS-I-1 (G-->A)]. In this study, we have investigated, in 82 Moroccan beta-thalassemic chromosomes, the correlation between the six common mutations and the XmnI polymorphism using the Fisher exact test. The XmnI polymorphism was divided into two categories, (XmnI [+] and XmnI [-]) and the six common Moroccan mutations into two groups (group I with FSC 8 and group II without FSC 8). Correlation was carried out between the XmnI [+] category and the six common mutations individually that showed that 68% of chromosomes in the XmnI [+] category had the FSC 8 (-AA) mutation. The results reported here show that there is a positive correlation between the XmnI polymorphism and FSC 8 mutation in linkage with haplotype IV [- + - + + - +] (p <10(-5)). In conclusion, molecular determination of genetic markers in early childhood will help to identify candidates for pharmacological Hb F switching by hydroxyurea (HU). In the Moroccan population, a good response to HU treatment should be suspected in cases with the -158 (C-->T) polymorphism in linkage with haplotype IV and internal beta-globin gene framework 3.

Agouti I; Badens C; Abouyoub A; Khattab M; Sayah F; Barakat A; Bennani M

2007-04-01

176

Genotypic correlation between six common beta-thalassemia mutations and the XmnI polymorphism in the Moroccan population.  

Science.gov (United States)

beta-Thalassemia (thal) is the most common recessive inherited disorder in Mediterranean populations. It is estimated that the frequency of this disease in the Moroccan population is between 1.5 and 3.0%. Severe forms of homozygous thalassemia cases require expensive and technically demanding curative (bone marrow transplantation) or palliative (chronic transfusion/chelation) therapies. The -158 (C-->T) polymorphism of the (G)gamma-globin gene (XmnI polymorphism) is known to ameliorate the severity of the disease because of it strong association with an increased production of fetal hemoglobin (Hb F). Among the many known mutations in Morocco, six are common [codon 39 (C-->T), frameshift codon (FSC) 8 (-AA), IVS-II-745 (CG), FSC 6 (-A), -29 (A-->G) and IVS-I-1 (G-->A)]. In this study, we have investigated, in 82 Moroccan beta-thalassemic chromosomes, the correlation between the six common mutations and the XmnI polymorphism using the Fisher exact test. The XmnI polymorphism was divided into two categories, (XmnI [+] and XmnI [-]) and the six common Moroccan mutations into two groups (group I with FSC 8 and group II without FSC 8). Correlation was carried out between the XmnI [+] category and the six common mutations individually that showed that 68% of chromosomes in the XmnI [+] category had the FSC 8 (-AA) mutation. The results reported here show that there is a positive correlation between the XmnI polymorphism and FSC 8 mutation in linkage with haplotype IV [- + - + + - +] (p T) polymorphism in linkage with haplotype IV and internal beta-globin gene framework 3. PMID:17486495

Agouti, Imane; Badens, Catherine; Abouyoub, Ahmed; Khattab, Mohamed; Sayah, Fouad; Barakat, Amina; Bennani, Mohcine

2007-01-01

177

Molecular characterization and PCR detection of a deletional HPFH: application to rapid prenatal diagnosis for compound heterozygotes of this defect with beta-thalassemia in a Chinese family.  

UK PubMed Central (United Kingdom)

Hereditary persistence of fetal hemoglobin (HPFH) is one of the hemoglobinopathies in which the fetal gamma-globin genes remain active in adult life. Most HPFHs are caused by a large deletion involving a variable extent of DNA segment on the beta-globin gene cluster. We report the molecular defects associated with a deletional HPFH, which has previously been described in Cambodians and Vietnamese, in two unrelated Chinese individuals. To define the sequence around the breakpoints of the deletion, both the deletion junction fragment and the normal DNA across the breakpoints were cloned by PCR and sequenced. We found that the 5' breakpoint is located between nucleotides 986 and 987 upstream from the startpoint of the beta-globin gene, which further confirmed the Southeast Asian (SEA) HPFH deletion previously determined, whereas the 3' breakpoint, which is clarified for the first time by us, lies approximately 2.3 kb downstream from the 3' HS1 site of the beta-globin gene. It is suggested that deletions were the result of a non-homologous recombination event. Based on our novel sequence data, we designed a PCR amplification method with three primers bridging the 3' breakpoint. With this method and reverse dot blot (RDB) for detecting beta-thalassemia mutations, a Chinese family that had a 6-year-old propositus with severe thalassemia intermediate and that had requested prenatal diagnosis for the second pregnancy was found to be compound heterozygotes of HPFH defects with beta-thalassemia. The fetal genomic DNA diagnosis showed the same results as those in propositus, i.e., both of them inherited the deletion from their mother and inherited a codons 14-15 (+G) frameshift mutation causing beta-thalassemia from their father.

Xu XM; Li ZQ; Liu ZY; Zhong XL; Zhao YZ; Mo QH

2000-11-01

178

Major histocompatibility complex variation in insular populations of the Egyptian vulture: inferences about the roles of genetic drift and selection.  

UK PubMed Central (United Kingdom)

Insular populations have attracted the attention of evolutionary biologists because of their morphological and ecological peculiarities with respect to their mainland counterparts. Founder effects and genetic drift are known to distribute neutral genetic variability in these demes. However, elucidating whether these evolutionary forces have also shaped adaptive variation is crucial to evaluate the real impact of reduced genetic variation in small populations. Genes of the major histocompatibility complex (MHC) are classical examples of evolutionarily relevant loci because of their well-known role in pathogen confrontation and clearance. In this study, we aim to disentangle the partial roles of genetic drift and natural selection in the spatial distribution of MHC variation in insular populations. To this end, we integrate the study of neutral (22 microsatellites and one mtDNA locus) and MHC class II variation in one mainland (Iberia) and two insular populations (Fuerteventura and Menorca) of the endangered Egyptian vulture (Neophron percnopterus). Overall, the distribution of the frequencies of individual MHC alleles (n=17 alleles from two class II B loci) does not significantly depart from neutral expectations, which indicates a prominent role for genetic drift over selection. However, our results point towards an interesting co-evolution of gene duplicates that maintains different pairs of divergent alleles in strong linkage disequilibrium on islands. We hypothesize that the co-evolution of genes may counteract the loss of genetic diversity in insular demes, maximize antigen recognition capabilities when gene diversity is reduced, and promote the co-segregation of the most efficient allele combinations to cope with local pathogen communities.

Agudo R; Alcaide M; Rico C; Lemus JA; Blanco G; Hiraldo F; Donázar JA

2011-06-01

179

Paradoxically increased ferritin level in a beta-thalassemia major patient following the start of deferasirox chelation therapy.  

UK PubMed Central (United Kingdom)

In this report we present a 37-year-old thalassemia patient with hyperferritinemia referred to our Microcytemia Centerat the beginning of deferasirox (DFX) therapy. Treatment with subcutaneous infusions of desferrioxamine (DFO) had started when he was 10 years old. During the 6-month DFX treatment, serum ferritin levels progressively increased from 600 to 2,700 ng/ml despite progressive DFX dose adjustments.This paradoxically abnormal ferritin levels required drug discontinuation but were not paralleled by a similar iron burden in T2 * magnetic resonance imaging. In this clinical case, ferritin levels were inappropriately increased following initiation of DFX treatment, but in the presence of an almost unmodified pattern of organ iron overload. Excluding the diagnostic dilemma of an improbable failure of DFX chelation, the pathogenesis of this phenomenon remains to be clarified, thus further complicating the problem of ferritin specificity and its role in monitoring chelation efficacy and in adapting DFX dosage in a limited period of treatment.

Ricchi P; Ammirabile M; Spasiano A; Costantini S; Cinque P; Di Matola T; Prossomariti L

2010-01-01

180

Paradoxically increased ferritin level in a beta-thalassemia major patient following the start of deferasirox chelation therapy.  

Science.gov (United States)

In this report we present a 37-year-old thalassemia patient with hyperferritinemia referred to our Microcytemia Centerat the beginning of deferasirox (DFX) therapy. Treatment with subcutaneous infusions of desferrioxamine (DFO) had started when he was 10 years old. During the 6-month DFX treatment, serum ferritin levels progressively increased from 600 to 2,700 ng/ml despite progressive DFX dose adjustments.This paradoxically abnormal ferritin levels required drug discontinuation but were not paralleled by a similar iron burden in T2 * magnetic resonance imaging. In this clinical case, ferritin levels were inappropriately increased following initiation of DFX treatment, but in the presence of an almost unmodified pattern of organ iron overload. Excluding the diagnostic dilemma of an improbable failure of DFX chelation, the pathogenesis of this phenomenon remains to be clarified, thus further complicating the problem of ferritin specificity and its role in monitoring chelation efficacy and in adapting DFX dosage in a limited period of treatment. PMID:20068283

Ricchi, Paolo; Ammirabile, Massimiliano; Spasiano, Anna; Costantini, Silvia; Cinque, Patrizia; Di Matola, Tiziana; Prossomariti, Luciano

2010-01-01

 
 
 
 
181

Fatty-acid peroxidation in relation to trace elements in serum of patients with homozygous sickle-cell anemia and beta-thalassemia: a gas-chromatographic study.  

Science.gov (United States)

Due mainly to a deeply disturbed iron metabolism, intense production of oxygen-derived free radicals occurs in genetic hemoglobinopathies such as homozygous sickle-cell anemia and beta-thalassemia. Together with impairments in the natural factors involved in oxy-radical detoxication, this results in intense oxidative stress leading to lipid peroxidation in the blood components. In search of peroxidation effects, we undertook a gas chromatographic study of both the total and phospholipid-bound fatty acids in the serum from sickle-cell disease and beta-thalassemia patients. Specific alterations of pathologic origin have been evidenced in the profiles of total and phospholipidic fatty acids, as well as in the elongation-desaturation ratios of the total fatty acids. Results are consistent with lipid peroxidations and fatty-acid biosynthesis disturbances in both diseases, but more severe in thalassemia than in sickle-cell anemia. Increased serum selenium in the latter disease might exert a protective action against lipid peroxidation. PMID:8748219

Preoteasa, E A; Ionescu, I

182

Fatty-acid peroxidation in relation to trace elements in serum of patients with homozygous sickle-cell anemia and beta-thalassemia: a gas-chromatographic study.  

UK PubMed Central (United Kingdom)

Due mainly to a deeply disturbed iron metabolism, intense production of oxygen-derived free radicals occurs in genetic hemoglobinopathies such as homozygous sickle-cell anemia and beta-thalassemia. Together with impairments in the natural factors involved in oxy-radical detoxication, this results in intense oxidative stress leading to lipid peroxidation in the blood components. In search of peroxidation effects, we undertook a gas chromatographic study of both the total and phospholipid-bound fatty acids in the serum from sickle-cell disease and beta-thalassemia patients. Specific alterations of pathologic origin have been evidenced in the profiles of total and phospholipidic fatty acids, as well as in the elongation-desaturation ratios of the total fatty acids. Results are consistent with lipid peroxidations and fatty-acid biosynthesis disturbances in both diseases, but more severe in thalassemia than in sickle-cell anemia. Increased serum selenium in the latter disease might exert a protective action against lipid peroxidation.

Preoteasa EA; Ionescu I

1995-09-01

183

Visual failure caused by suprasellar extramedullary hematopoiesis in beta thalassemia: case report.  

UK PubMed Central (United Kingdom)

OBJECTIVE AND IMPORTANCE: Small deposits of extramedullary hematopoiesis, acting as epileptogenic foci, have been observed near convexity dura and adjacent to falx cerebri. These foci could potentially grow and act as space-occupying lesions, producing focal neurological deficits. This condition was observed in a unique case of thalassemia major, with progressive visual loss caused by extramedullary hematopoiesis originating from the base of the cranium and extending up to the inferior third ventricle. The patient had been operated on 4 years earlier to relieve the compressive effects of ectopic marrow in the thoracolumbar epidural space. CLINICAL PRESENTATION: A 21-year-old man is reported with progressive visual loss caused by compressive optic neuropathy as a result of extramedullary hematopoiesis. Computed tomography of the head revealed a suprasellar and parasellar enhancing mass originating from the pre-sphenoid cranial base and approaching the lower third ventricle. INTERVENTION: Partial resection of the tumor was accomplished by a transsphenoidal approach. Monthly blood transfusions and low-dose radiotherapy of the appropriate anatomic structures were then performed. The patient's visual acuity improved only modestly. CONCLUSION: Extramedullary hematopoiesis, although extremely rare, could arise from the base of the cranium and act as a parasellar tumor. When any patient with thalassemia major requiring multiple transfusions develops visual failure, appropriate studies should be performed to rule out compression of visual pathways by ectopic marrow, especially if the patient is receiving deferoxamine.

Aarabi B; Haghshenas M; Rakeii V

1998-04-01

184

Egyptian gas for sale  

Energy Technology Data Exchange (ETDEWEB)

Israel, Jordan, Palestine, the Lebanon, Turkey and Italy all have at least one factor in common: they`re potential customers for Egyptian gas. Once under-used, this major resource is now set to become a valuable export commodity by the turn of the century. (author)

Buckman, D.

1995-07-01

185

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

UK PubMed Central (United Kingdom)

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.

Broquere C; Brudey K; Harteveld CL; Saint-Martin C; Elion J; Giordano PC; Romana M

2010-06-01

186

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

Digital Repository Infrastructure Vision for European Research (DRIVER)

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 no...

Kishore Janak; Srivastava Manisha; Choudhury Nabajyoti

187

Comparison of right and left side heart functions in patients with thalassemia major, patients with thalassemia intermedia, and control group.  

UK PubMed Central (United Kingdom)

BACKGROUND: Heart disease is the main cause of mortality and morbidity in patients with beta thalassemia, rendering its early diagnosis vital. We studied and compared echocardiographic findings in patients with beta thalassemia major, patients with beta thalassemia intermedia, and a control group. METHODS: Eighty asymptomatic patients with thalassemia major and 22 asymptomatic cases with thalassemia intermedia (8-25 years old) were selected from those referred to Ali Asghar Hospital (Zahedan-Iran) between June 2008 and June 2009. Additionally, 80 healthy individuals within the same age and sex groups were used as controls. All the individuals underwent echocardiography, the data of which were analyzed with the Student t-test. RESULTS: The mean value of the pre-ejection period/ejection time ratio of the left ventricle during systole, the diameter of the posterior wall of the left ventricle during diastole, the left and right isovolumic relaxation times, and the right myocardial performance index in the patients with beta thalassemia major and intermedia increased significantly compared to those of the controls, but the other parameters were similar between the two patient groups. The mean values of the left and right pre-ejection periods, left ventricular end systolic dimension, and left isovolumic contraction time in the patients with thalassemia intermedia increased significantly compared to those of the controls. In the left side, myocardial performance index, left ventricular mass index, isovolumic contraction time, and deceleration time exhibited significant changes between the patients with thalassemia major and those with thalassemia intermedia, whereas all the echocardiographic parameters of the right side were similar between these two groups. CONCLUSION: The results showed that the systolic and diastolic functions of the right and left sides of the heart would be impaired in patients with thalassemia major and thalassemia intermedia. Consequently, serial echocardiography is suggested in asymptomatic patients with beta thalassemia for an early diagnosis of heart dysfunction and proper treatment.

Noori N; Mohamadi M; Keshavarz K; Alavi SM; Mahjoubifard M; Mirmesdagh Y

2013-01-01

188

The XmnI (G)gamma polymorphism influences hemoglobin F synthesis contrary to BCL11A and HBS1L-MYB SNPs in a cohort of 57 beta-thalassemia intermedia patients.  

Science.gov (United States)

The HbF level is a quantitative trait influenced by many loci inside or outside the beta-globin gene cluster. The aim of this study was to analyze in 57 beta-thalassemia intermedia patients with very various genotypes the effects on fetal hemoglobin levels of SNPs lying in three genes or chromosome regions which include the XmnI (G)gamma polymorphism at position -158 of the HBG2 promoter (rs7482144), two SNPs located in the BCL11A region (rs4671393 and rs11886868) and three SNPs located in the HBS1L-MYB region (rs28384513, rs9399137 and rs4895441). Our study shows a strong correlation between the XmnI (G)gamma polymorphism and the fetal hemoglobin expression in this patient population (p=0.002). Unfortunately, although recent studies clearly showed a role of SNPs in BCL11A and a HBS1L-MYB region on either clinical expression or fetal hemoglobin levels of beta-hemoglobinopathies such as sickle cell disease and beta-thalassemia, SNPs in BCL11A and the HBS1L-MYB region did not show statistically significant correlations with fetal hemoglobin levels. This suggests that the BCL11A and HBS1L-MYB loci have a minor effect on HbF level compared to the XmnI QTL in beta-thalassemia intermedia patients. PMID:20472475

Nguyen, Thi Khanh Tien; Joly, Philippe; Bardel, Claire; Moulsma, Mustapha; Bonello-Palot, Nathalie; Francina, Alain

2010-05-15

189

The XmnI (G)gamma polymorphism influences hemoglobin F synthesis contrary to BCL11A and HBS1L-MYB SNPs in a cohort of 57 beta-thalassemia intermedia patients.  

UK PubMed Central (United Kingdom)

The HbF level is a quantitative trait influenced by many loci inside or outside the beta-globin gene cluster. The aim of this study was to analyze in 57 beta-thalassemia intermedia patients with very various genotypes the effects on fetal hemoglobin levels of SNPs lying in three genes or chromosome regions which include the XmnI (G)gamma polymorphism at position -158 of the HBG2 promoter (rs7482144), two SNPs located in the BCL11A region (rs4671393 and rs11886868) and three SNPs located in the HBS1L-MYB region (rs28384513, rs9399137 and rs4895441). Our study shows a strong correlation between the XmnI (G)gamma polymorphism and the fetal hemoglobin expression in this patient population (p=0.002). Unfortunately, although recent studies clearly showed a role of SNPs in BCL11A and a HBS1L-MYB region on either clinical expression or fetal hemoglobin levels of beta-hemoglobinopathies such as sickle cell disease and beta-thalassemia, SNPs in BCL11A and the HBS1L-MYB region did not show statistically significant correlations with fetal hemoglobin levels. This suggests that the BCL11A and HBS1L-MYB loci have a minor effect on HbF level compared to the XmnI QTL in beta-thalassemia intermedia patients.

Nguyen TK; Joly P; Bardel C; Moulsma M; Bonello-Palot N; Francina A

2010-08-01

190

Two novel mutations in the 3' untranslated region of the beta-globin gene that are associated with the mild phenotype of beta thalassemia.  

UK PubMed Central (United Kingdom)

INTRODUCTION: There are approximately 800 different genomic alterations of the ?-globin gene described in the human hemoglobin variant (HbVar) database. In this study, we have identified two novel putative mutations (HBB:c.*+108 A>G and HBB:c.*+132 C>T) in the 3' untranslated region (3'-UTR) of the ?-globin gene and describe their clinical implications. METHODS: Four patients from two unrelated families, all with hematological and clinical features associated with beta-thalassemia (?-thal), and their family members were included. The molecular diagnoses of the ?-globin gene mutations were performed by direct sequencing. RESULTS: A novel mutation, HBB:c.*+108 A>G, was found in combination with the IVS-I-110 G>A (HBB:c.93-21 G>A) mutation in three siblings (two brothers and one sister) from one of the families involved in our study. Their mother was found to be a carrier for HBB:c.*+108 A>G with normal HbA? levels. The other novel mutation, HBB:c.*+132 C>T, was found in combination with IVS-I-1 G>A (HBB:c.92 + 1G>A) in a 7-year-old boy diagnosed as ?-thal intermedia from the second family. His father and two brothers were all carriers of HBB:c.*+132 C>T with borderline HbA? levels. CONCLUSION: Based on the observed ?-thal intermedia phenotypes and the accompanying mutations, we conclude that these novel ?-globin gene 3' UTR mutations are associated with the mild phenotype of ?-thal.

Bilgen T; Clark OA; Ozturk Z; Akif Yesilipek M; Keser I

2013-02-01

191

Comparing prevalence of Iron Deficiency Anemia and Beta Thalassemia Trait in microcytic and non-microcytic blood donors: suggested algorithm for donor screening  

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Full Text Available Background: The prevalence of microcytosis in donors and Iron Deficiency Anemia (IDA) and Beta-Thalassemia trait (BTT) in microcytic and non-microcytic donors has not been studied in India. The present study aims at finding the same. Materials and Methods: Initially 925 donor samples were evaluated on cell-counter. Of these, 50 were found to be microcytic. These were subjected to Ferritin and HbA2 determination. Subsequently, an additional 51, age-and-sex matched non-microcytic donor samples were selected to serve as controls. These were subjected to the same tests. Results: The prevalence of microcytosis was 5.4% (50/925). Among the microcytic donors, 52% were IDA, 36% BTT, 8% both, and 4% none. In case of non-microcytic donors 29.4% were IDA, 3.9% BTT, and 66.7% none. Conclusions: The study revealed a high prevalence of IDA and BTT in blood donors and a higher probability of finding these in the microcytic samples. This prompted authors to suggest an algorithm for screening of blood donors for IDA and BTT. The algorithm recommends doing an hemogram on all donor samples, routinely. Ferritin could be done only in microcytic samples. At levels lower than15 ng/ml, it is diagnosed as IDA, and therefore, HPLC is performed only for non-IDA samples with Ferritin levels higher than 15 ng/ml. By employing this algorithm, a substantial number of IDA and BTT could be diagnosed while keeping the number of Ferritin tests small and the number of HPLC tests even smaller and thus making it cost efficient.

Tiwari Aseem; Chandola Iva

2009-01-01

192

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  

Directory of Open Access Journals (Sweden)

Full Text Available 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 difficult 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.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 difícil 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.

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

2000-01-01

193

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 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 difícil interpretação. Nesta situação, deve ser avaliada uma alternativa ao teste de hemaglutinação para determinar o padrão antigênico dos pacientes. Utilizamo (more) s 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 difficult 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 (more) 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.

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

2000-08-01

194

Identification of IVS-I (-1) (G > C) or Hb Monroe as a Report on the Beta-globin Gene with a Beta-thalassemia Minor Phenotype in South of Iran.  

Science.gov (United States)

We described the first report of IVS-I (-1), codon 30 (G > C) or Hb Monroe in five individuals from four unrelated families in Khuzestan Province. Polymerase chain reaction (PCR) followed by sequencing of the beta-globin gene confirmed the presence of Hb Monroe in the heterozygous form which causes beta-thalassemia due to missplicing in the course of mRNA processing. This mutation has been described in individuals originated from Arabic and Behbahani origins, Ahvaz City, south of Iran. The knowledge of the beta-globin variants present in the Iranian population is essential for the molecular diagnosis and prevention of hemoglobinopathies. PMID:23981164

Hamid, Mohammad; Shariati, Gholamreza; Saberi, Alihossein; Kaikhaei, Bijan; Galehdari, Hamid; Mohammadi-Anaei, Marziye

2013-09-01

195

Identification of IVS-I (-1) (G > C) or Hb Monroe as a Report on the Beta-globin Gene with a Beta-thalassemia Minor Phenotype in South of Iran.  

UK PubMed Central (United Kingdom)

We described the first report of IVS-I (-1), codon 30 (G > C) or Hb Monroe in five individuals from four unrelated families in Khuzestan Province. Polymerase chain reaction (PCR) followed by sequencing of the beta-globin gene confirmed the presence of Hb Monroe in the heterozygous form which causes beta-thalassemia due to missplicing in the course of mRNA processing. This mutation has been described in individuals originated from Arabic and Behbahani origins, Ahvaz City, south of Iran. The knowledge of the beta-globin variants present in the Iranian population is essential for the molecular diagnosis and prevention of hemoglobinopathies.

Hamid M; Shariati G; Saberi A; Kaikhaei B; Galehdari H; Mohammadi-Anaei M

2013-09-01

196

Analysis of ?/? globin ratio by using relative qRT-PCR for diagnosis of beta-thalassemia carriers.  

UK PubMed Central (United Kingdom)

BACKGROUND: Current routine tests for premarital screening of ?-thalassemia carriers are not applicable for diagnosis of rare atypical minor ?-thalassemia cases. A more specialized laboratory evaluation for them is the measurement of ?/? chain synthesis ratio with the assistance of radioactive amino acids. This method is also no longer routinely accessible. Consequently it is required to establish a rapid, trouble-free, and reliable method that encompasses all the cases of ?-thalassemia carriers. Therefore we have determined ?/?-globin mRNA ratio by applying relative qRT-PCR in various ?-thalassemia patients. METHODS: Reticulocytes RNA extraction and subsequent cDNA synthesis were performed, followed by relative qRT-PCR for ?- and ?-globin chain genes and ?-actin gene as an endogenous reference. ?/?-Globin gene ratio was then evaluated with the Pfaffl method. RESULTS: The mean of ?/? ratio was 0.99, 0.81, 0.69, and 0.69 for normal population, minor, intermediate, and major ?-thalassemia, respectively. Approximately 6% of cases with minor thalassemia RBC index and normal HbA2 and having a decreased ?/? ratio were located in the minor ?-thalassemia group. The mean of ?/? mRNA ratio in normal individuals and minor ?-thalassemia was significantly different with all other groups (P-value < 0.05). Nevertheless, there was no such association between ?/? mRNA ratio in major and intermediate ?-thalassemia. CONCLUSION: According to the significant differences achieved, no overlapping between minor ?-thalassemia and normal group, capability of diagnosing atypical minor ?-thalassemia, and accessibility of this technique, we can declare that this method could be suggested as a routine premarital screening test for ?-thalassemia carriers.

Ranjbaran R; Okhovat MA; Mobarhanfard A; Aboualizadeh F; Abbasi M; Moezzi L; Golafshan HA; Behzad-Behbahani A; Bagheri M; Sharifzadeh S

2013-07-01

197

Egyptian Antiquity Information  

Science.gov (United States)

The Egyptian Ministry of Tourism provides an excellent collection of resources useful to both student and scholar. The site provides a number of sections covering topics such as Monuments (pharoanic, Islamic, and early Christian), Rulers of Ancient Egypt, Egyptian Mythology, a modest Virtual Museum, and a lengthy Glossary of Terms. The highlight is an extensive History of Egypt from the Lower Paleolithic Age to 1942. The history is divided into dynasties/historical periods and contains numerous hyperlinks. Additional features include a section on Historical Astrology in Egypt and the complete Egyptian Book of the Dead.

198

Design an Egyptian Playground  

Science.gov (United States)

Student teams use their knowledge about ancient Egypt to design playgrounds for Egyptian children. This involves brainstorming ideas on paper, building models with LEGO® bricks or other materials, and explaining their ideas to the class in five-minute presentations.

GK-12 Program, Tufts University,

199

Egyptian Arab Republic; Egypte  

Energy Technology Data Exchange (ETDEWEB)

In this work are given the principal news concerning petroleum and natural gas in Egyptian Arab Republic. An important discovery of natural gas has been made in Khalda (Egyptian Arab Republic). The discovery well will be temporarily abandoned until it is connected to the egyptian pipeline system. In 1996 the south Khalda will be explored with at least two well drilling. The transit duties by the Suez canal for liquefied natural gas exports have decreased of 35%. The Arab Petroleum Pipeline Company studies a connection project of the trans saudi pipeline with the Suez mediterranean pipeline. The Egyptian General Petroleum Corporation will furnish 2,5 milliards of m{sup 3} per year of natural gas to Israel during 20 years. (O.L.). 2 figs.

Anon.

1995-10-01

200

On Egyptian fractions  

CERN Multimedia

We give a formula for the number of decompositions of an Egyptian fraction as sum of two Egyptian fractions and find a polynomial whose values at nonnegative integers satisfy the Erd\\"os-Straus Conjecture. We conjecture that these values include all the prime numbers of the form $4q+5$, which is checked up to $10^{10}$, however the perfect squares are not covered by these values.

Bello-Hernández, Manuel; Fernández, Emilio

2010-01-01

 
 
 
 
201

Use of HbA estimation by CE-HPLC for prenatal diagnosis of beta-thalassemia; experience from a tertiary care centre in north India: a brief report.  

Science.gov (United States)

Prenatal diagnosis (PND) of beta-thalassemia is offered by DNA based mutation analysis at 10-12 weeks gestation using chorionic villous biopsy specimens. Most centers offering PND search for five common mutations prevalent in India, which cover more than 90% of patients. However in those families where the mutation cannot be identified in the parents, PND becomes difficult by mutation detection. The technique thus followed is estimation of globin chain synthesis ratio in second trimester cord blood samples. However, this technique is cumbersome and not available in most of the centres. We evaluated 112 cord blood samples (74 were informative) for analyzing hemoglobin A (HbA) levels by cation-exchange high performance liquid chromatography (CE-HPLC) using the BioRad beta-thal short program between 18 and 22 weeks of gestation. A normal range for the population was calculated by running 14 cord blood samples of non-thalassemic abortuses of the same gestation. A 6 month post-natal follow-up was possible in 18 cases. All but one of these corroborated their PND. PMID:19298727

Rao, Seema; Saxena, Renu; Deka, Deepika; Kabra, Madhulika

2009-04-01

202

Use of HbA estimation by CE-HPLC for prenatal diagnosis of beta-thalassemia; experience from a tertiary care centre in north India: a brief report.  

UK PubMed Central (United Kingdom)

Prenatal diagnosis (PND) of beta-thalassemia is offered by DNA based mutation analysis at 10-12 weeks gestation using chorionic villous biopsy specimens. Most centers offering PND search for five common mutations prevalent in India, which cover more than 90% of patients. However in those families where the mutation cannot be identified in the parents, PND becomes difficult by mutation detection. The technique thus followed is estimation of globin chain synthesis ratio in second trimester cord blood samples. However, this technique is cumbersome and not available in most of the centres. We evaluated 112 cord blood samples (74 were informative) for analyzing hemoglobin A (HbA) levels by cation-exchange high performance liquid chromatography (CE-HPLC) using the BioRad beta-thal short program between 18 and 22 weeks of gestation. A normal range for the population was calculated by running 14 cord blood samples of non-thalassemic abortuses of the same gestation. A 6 month post-natal follow-up was possible in 18 cases. All but one of these corroborated their PND.

Rao S; Saxena R; Deka D; Kabra M

2009-04-01

203

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  

Directory of Open Access Journals (Sweden)

Full Text Available 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 electrophoresis 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.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.

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

2010-01-01

204

Dense Egyptian Fractions  

CERN Multimedia

Every positive rational number has representations as Egyptian fractions (sums of reciprocals of distinct positive integers) with arbitrarily many terms and with arbitrarily large denominators. However, such representations normally use a very sparse subset of the positive integers up to the largest demoninator. We show that for every positive rational there exist Egyptian fractions whose largest denominator is at most N and whose denominators form a positive proportion of the integers up to N, for sufficiently large N; furthermore, the proportion is within a small factor of best possible.

Martin, G

1998-01-01

205

Ambulatory blood pressure monitoring for children with ?-thalassemia major: a preliminary report.  

UK PubMed Central (United Kingdom)

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.

Tabatabaie M; Hooman N; Arjmandi-Rafsanjani K; Isa-Tafreshi R

2013-07-01

206

Denser Egyptian Fractions  

CERN Document Server

An Egyptian fraction is a sum of distinct unit fractions (reciprocals of positive integers). We show that every rational number has Egyptian fraction representations where the number of terms is of the same order of magnitude as the largest denominator, improving a result from an earlier paper to best-possible form. We also settle, in best-possible form, the related problem of how small M_t(r) can be such that there is an Egyptian fraction representation of r with exactly t terms, the denominators of which are all at most M_t(r). We also consider the following problems posed by Erdos and Graham: the set of integers that cannot be the largest denominator of an Egyptian fraction representation of 1 is infinite - what is its order of growth? How about those integers that cannot be the second-largest (third-largest, etc.) denominator of such a representation? In the latter case, we show that only finitely many integers cannot be the second-largest (third-largest, etc.) denominator of such a representation; while ...

Martin, G

2000-01-01

207

Sit Like an Egyptian  

Science.gov (United States)

The topic of Egypt is one that students are naturally intrigued and enthusiastic about. In this article, fifth graders create mosaic and mixed-media collaged chairs in their visual arts class as part of their overall study of the art and culture of ancient Egypt. The idea was to embellish a contemporary chair with Egyptian colors, themes, and…

Moll, Emily

2012-01-01

208

Developmental effect of the XmnI site on Ggamma-globin gene expression among newborn Hb F-Malta-I [Ggamma117(G19)His-->Arg, CAT-->CGT] heterozygotes and adult beta+ -Thalassemia homozygotes.  

Science.gov (United States)

Hb F-Malta-I [Ggamma117(19)His-->Arg, CAT-->CGT] is a stable and benign variant of Hb F found in 1.8% of Maltese newborn. We studied 120 Hb F-Malta-I heterozygotes and four Hb F-Malta-I homozygotes. The mean proportion of Ggamma-F-Malta-I in Hb F was 0.26 +/- 0.03 for the Hb F-Malta-I heterozygotes and 0.58 +/- 0.06 for the Hb F-Malta-I homozygotes. The Hb F-Malta-I allele was shown to occur on a background of the common Mediterranean haplotype Va [+ + - - - - - + + -]. Furthermore, the common Mediterranean haplotypes Va, IIIb [- + + + - + + + + -], I [+ + - - - - - + + +] and II [- + - + + - + + + +] accounted for most (66.2%) of the wild-type alleles among the tested Hb F-Malta-I heterozygotes. Different genotypes at the 5' epsilon HincII, Ggamma and Agamma HindIII, and 3'psibeta HincII sites (but not at the 5' Ggamma XmnI site) were found to be linked to significant variations in the proportion of Ggamma-F-Malta-I and Ggamma-globins in the Hb F of newborn Hb F-Malta-I heterozygotes. Moreover, the 5' Ggamma XmnI site was found to be associated with variations in Hb F and Ggamma-globin levels in a population of adult Maltese beta-thalassemia (thal) homozygotes. This implies that a determinant linked to the XmnI site which effects Ggamma-globin gene expression is active in anemic adults but not in normal infants. PMID:17365007

Pulis, Svetlana; Scerri, Christian A; Wismayer, Pierre Schembri; Galdies, Ruth; Wettinger, Stephanie Bezzina; Felice, Alex E

2007-01-01

209

Developmental effect of the XmnI site on Ggamma-globin gene expression among newborn Hb F-Malta-I [Ggamma117(G19)His-->Arg, CAT-->CGT] heterozygotes and adult beta+ -Thalassemia homozygotes.  

UK PubMed Central (United Kingdom)

Hb F-Malta-I [Ggamma117(19)His-->Arg, CAT-->CGT] is a stable and benign variant of Hb F found in 1.8% of Maltese newborn. We studied 120 Hb F-Malta-I heterozygotes and four Hb F-Malta-I homozygotes. The mean proportion of Ggamma-F-Malta-I in Hb F was 0.26 +/- 0.03 for the Hb F-Malta-I heterozygotes and 0.58 +/- 0.06 for the Hb F-Malta-I homozygotes. The Hb F-Malta-I allele was shown to occur on a background of the common Mediterranean haplotype Va [+ + - - - - - + + -]. Furthermore, the common Mediterranean haplotypes Va, IIIb [- + + + - + + + + -], I [+ + - - - - - + + +] and II [- + - + + - + + + +] accounted for most (66.2%) of the wild-type alleles among the tested Hb F-Malta-I heterozygotes. Different genotypes at the 5' epsilon HincII, Ggamma and Agamma HindIII, and 3'psibeta HincII sites (but not at the 5' Ggamma XmnI site) were found to be linked to significant variations in the proportion of Ggamma-F-Malta-I and Ggamma-globins in the Hb F of newborn Hb F-Malta-I heterozygotes. Moreover, the 5' Ggamma XmnI site was found to be associated with variations in Hb F and Ggamma-globin levels in a population of adult Maltese beta-thalassemia (thal) homozygotes. This implies that a determinant linked to the XmnI site which effects Ggamma-globin gene expression is active in anemic adults but not in normal infants.

Pulis S; Scerri CA; Wismayer PS; Galdies R; Wettinger SB; Felice AE

2007-01-01

210

Egiptiese geneeskunde Egyptian medicine  

Directory of Open Access Journals (Sweden)

Full Text Available Weens probleme met die interpretasie van die Oudegiptiese skrif, was ons begrip van geneeskunde in faraoniese Egipte tot heel onlangs baie gebrekkig en dikwels foutief. Hierdie studie gee die jongste sieninge weer oor die stand van geneeskunde in Egipte (3100-332 v.C.) soos afgelei uit inskripsies op geboue en monumente, die geskrifte van historici, en veral die inhoud van 10 sogenaamde Mediese Papirusse, opgestel tussen ongeveer 2 500 v.C. en die 4de eeu v.C. Gebore uit vroeëre magies-religieuse geneeskunde het empiries-rasionele geneeskunde tydens die Ou Koninkryk (2686-2181 v.C.) tot stand gekom, vir twee millennia relatief onveranderd gebloei en aan die mensdom sy eerste mediese geskrifte en logiese sisteem van empiriese siekte-beoordeling en -hantering gebring. Mettertyd het meer gevorderde Griekse wetenskapsdenke Egiptiese geneeskunde oordonder, en met die vervanging van die Oudegiptiese skrif deur koptiese Egipties (5de eeu v.C.) het die sonderlinge bydraes uit die Nylvallei vir die mensdom verlore geraak, en eers weer na vore gekom met die ontsyfering van hiërogliewe, hiëraties en demoties in die 19de en 20ste eeue.Our understanding of ancient Egyptian medicine is seriously hampered by problems in the decipherment of the Egyptian writing, and the relative scarcity of medical writings from pharaonic times. No Egyptian medical equipment has survived. In this study the most recent understanding of medicine in pharaonic Egypt (3100-332 BC) is reviewed as it comes to the fore in inscriptions on walls and monuments, the writings of visiting historians, but mainly the contents of 10 so-called medical papyri written between circa 2500 BC and the 4th century BC. A clearly recognizable system of empirical medicine evolved from a background of magico-religious medicine during the Old Kingdom (2686-2181 BC) and flourished virtually unchanged for more than 2 millennia. Scientific empirical medicine co-existed with magical medicine during this time. The two entities influenced each other, and in the process Egypt produced mankind’s first scientific medical literature with a logical system of disease assessment and therapy, relatively free of magic. At the end of the pharaonic era a superior Greek medical system gradually became dominant, and when hieroglyphics were replaced by coptic Egyptian in the 5th century AD, the uniquely Egyptian contribution to medicine passed into oblivion, until early Egyptian writing was deciphered in the 19th and 20t centuries.

F. P. Retief; L. Cilliers

2004-01-01

211

An Introduction to Egyptian Mathematics  

Science.gov (United States)

A former mathematics professor at the University of Surrey has created this webpage as an introduction to ancient Egyptian mathematics. Specifically, the site focuses on "how the Egyptians of 5000 years ago worked with fractions." While the methodology is somewhat peculiar, it is very clearly explained and anyone with an understanding of modern fractions should have no problem learning the Egyptian system. The author shows that Egyptian fractions actually have some advantages over their modern-day descendents. Several examples are shown and additional information can be found via links on the page.

Knott, Ron

212

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  

Directory of Open Access Journals (Sweden)

Full Text Available 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 thalassemias, 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

2003-01-01

213

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 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 thalassemias, is growing in importance, particularly because of an increasing requirement for neonatal diagnosis of abnormal hemoglobins. Screening tests were carried out using (more) 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.

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

2003-06-01

214

The Prevalence of the Beta Thalassemia Trait among the Pregnant Women who attended the ANC Clinic in a PHC, by using the NESTROF Test in Bangalore, Karnataka  

Science.gov (United States)

Contaxt: Every year in India 6000 to 8000 children are born with thalassaemia major. The birth of such a child produces considerable physical and economic strain on the affected child, its family and the community at large. Thus, the emphasis must shift from the treatment to the prevention of such births in the future. Aims: To find out the prevalence of the Beta Thalassaemia trait among the pregnant women who attended the antenatal clinics in a Primary Health Centre, by using the NESTROF test; to describe the socio-demographic characteristics of the study subjects, to find out the pregnancies which were ‘at risk’ of delivering babies with Thalassaemia major and to find out the ‘awareness’ of the pregnant women regarding Thalassaemia. Material and Methods: This exploratory study was conducted in a PHC which was attached to the Department of Community Medicine of a medical college which was situated in Bangalore, India, for a period of 3 months. All the pregnant women who attended the antenatal clinic and the husbands of the NESTROF positive women were included in the study. The details regarding the sociodemographic characteristics of the women were collected on a structured proforma and the NESTROF test was performed. Results: Out of the 210 pregnant women who were tested, 18 (8.5%) were thalassaemia carriers. 12 (66.6%) of them were between 20 – 25 years of age. 5 (27.7%) were born out of 2nd degree consanguineous marriages. 7 (38.8%) had a history of abortions, among which 6 (33.3%) were in the 1st trimesters of their pregnancies. Out of the 18 positive women, 9 (50%) had turned up with their husbands. All of the husbands were negative for the Thalassaemia carrier status. Thus, there was no pregnancy which was at a risk of delivering babies with thalassaemia major. None (100%) of the pregnant women were aware of the disease, thalassaemia. Conclusions: The prevalence of the Beta Thalassaemia trait among the pregnant women was 8.5%.

Kulkarni, Praveen; Masthi, N R Ramesh; Niveditha, SR; Suvarna, R

2013-01-01

215

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

UK PubMed Central (United Kingdom)

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.

Harteveld CL; Refaldi C; Giambona A; Ruivenkamp CA; Hoffer MJ; Pijpe J; De Knijff P; Borgna-Pignatti C; Maggio A; Cappellini MD; Giordano PC

2013-05-01

216

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.

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

217

Study on effectiveness of transfusion program in thalassemia major patients receiving multiple blood transfusions at a transfusion centre in Western India  

Directory of Open Access Journals (Sweden)

Full Text Available Background : Children suffering from beta-thalassemia major require repeated blood transfusions which may be associated with dangers like iron overload and contraction of infections such as HIV, HCV, and HBsAg which ultimately curtail their life span. On the other hand, inadequate transfusions lead to severe anemia and general fatigue and debility. Materials and Methods: Data were obtained from 142 beta-thalassemia major patients aged 3 years or more receiving regular blood transfusions at a transfusion centre in Western India from 1 April 2009 to 30 June 2009. The clinical data and laboratory results were subsequently analyzed. Results: Of the 142 patients, 76 (53.5%) were undertransfused (mean Hb Conclusions: The study suggests the need to step up the transfusions to achieve hemoglobin goal of 10 gm% (as per the moderate transfusion regimen) and also to institute urgent and effective chelation measures with the aim of keeping serum ferritin levels below 1000 ng/ml to avoid the systemic effects of iron overload. In addition, strict monitoring of the children for endocrinopathy and other systemic effects of iron overload should be done. Rigid implementation of quality control measures for the ELISA kits used to detect HCV in donor blood needs to be done urgently. Alternately, more sensitive and specific measures (like NAT testing) should be employed for detection of HCV. In the absence of a definitive cure accessible and available to all patients, strict implementation of the above suggested measures will go a long way in improving the quality (and quantity) of life in patients of beta-thalassemia major.

Shah Neeraj; Mishra Anupa; Chauhan Dhaval; Vora C; Shah N

2010-01-01

218

Senenmut: An Ancient Egyptian Astronomer  

CERN Multimedia

The celestial phenomenon have always been a source of wonder and interest to people, even as long ago as the ancient Egyptians. While the ancient Egyptians did not know all the things about astronomy that we do now, they had a good understanding of the some celestial phenomenon. The achievements in astronomy of ancient Egyptians are relatively well known, but we know very little about the people who made these achievements. The goal of this paper is to bring some light on the life of Senenmut, the chief architect and astronomer during the reign of Queen Hatshepsut.

Novakovic, Bojan

2008-01-01

219

Senenmut: An Ancient Egyptian Astronomer  

Science.gov (United States)

The celestial phenomena have always been a source of wonder and interest to people, even as long ago as the ancient Egyptians. While the ancient Egyptians did not know all the things about astronomy that we do now, they had a good understanding of some celestial phenomena. The achievements in astronomy of ancient Egyptians are relatively well known, but we know very little about the people who made these achievements. The goal of this paper is to bring some light on the life of Senenmut, the chief architect and astronomer during the reign of Queen Hatshepsut.

Novakovic, B.

2008-10-01

220

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

 
 
 
 
221

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  

Directory of Open Access Journals (Sweden)

Full Text Available 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 parameters 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.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.

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

2002-01-01

222

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 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 rela (more) cionados 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 parameters in iron deficiency anemia (IDA) and heterozygous beta-thalassemia (hetero beta-thal) patients. Laboratory parameters related to iron status and reticulocytes were studied (more) 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.

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

2002-01-01

223

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 P 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; Srivastava Manisha; Choudhury Nabajyoti

2011-01-01

224

Hypopigmented mycosis fungoides in Egyptian patients.  

Science.gov (United States)

Hypopigmented mycosis fungoides (HMF) is uncommon clinical variant that was commonly observed in dark-skinned individuals. We described the clinical characteristics, pathological features, immunohistochemical profile and prognosis of HMF in Egyptian patients. During the period from January 2004 to December 2011, we were able to diagnose and follow up 27 patients with HMF. The study included 18 males (66.7%) and 9 females (33.3%) with a mean age of 35.39 ±13.13 years. The duration ranged from 1 to 6 years with a mean of 3.26 ±1.7 years. The majority of patients were skin type IV (63%) and presented with multiple (88.9%), asymptomatic (74.1%), ill-defined (70.4%) and non-scaly (77.8%) lesions distributed on the trunk (81.5%). Histologically, epidermotropic lymphocytes were observed in 100%, basal alignment of lymphocytes in 81.5%, Pautrier's microabscesses in 29% and folliculotropism in 18.5%. Immunostaining showed predominance of epidermal CD8+ cells in 51.9% while in 29.6% CD4+ cells were predominant. Phototherapy was effective in 86.7% of patients with success rate 66.7% of narrow band (NB) ultraviolet-B and 80% of psoralen ultraviolet-A. HMF among Egyptians could be classified as non-aggressive epidermotropic cytotoxic CD8+ variant. It is common among middle age males with skin type IV and mostly well respond to phototherapy. PMID:23379648

Hassab-El-Naby, Hussein M M; El-Khalawany, Mohamed A

2013-02-05

225

Hypopigmented mycosis fungoides in Egyptian patients.  

UK PubMed Central (United Kingdom)

Hypopigmented mycosis fungoides (HMF) is uncommon clinical variant that was commonly observed in dark-skinned individuals. We described the clinical characteristics, pathological features, immunohistochemical profile and prognosis of HMF in Egyptian patients. During the period from January 2004 to December 2011, we were able to diagnose and follow up 27 patients with HMF. The study included 18 males (66.7%) and 9 females (33.3%) with a mean age of 35.39 ±13.13 years. The duration ranged from 1 to 6 years with a mean of 3.26 ±1.7 years. The majority of patients were skin type IV (63%) and presented with multiple (88.9%), asymptomatic (74.1%), ill-defined (70.4%) and non-scaly (77.8%) lesions distributed on the trunk (81.5%). Histologically, epidermotropic lymphocytes were observed in 100%, basal alignment of lymphocytes in 81.5%, Pautrier's microabscesses in 29% and folliculotropism in 18.5%. Immunostaining showed predominance of epidermal CD8+ cells in 51.9% while in 29.6% CD4+ cells were predominant. Phototherapy was effective in 86.7% of patients with success rate 66.7% of narrow band (NB) ultraviolet-B and 80% of psoralen ultraviolet-A. HMF among Egyptians could be classified as non-aggressive epidermotropic cytotoxic CD8+ variant. It is common among middle age males with skin type IV and mostly well respond to phototherapy.

Hassab-El-Naby HM; El-Khalawany MA

2013-04-01

226

Soggy Soil Sours Egyptian Sandstones  

Science.gov (United States)

This article from Geotimes examines the threat posed by rising groundwater to ancient Egyptian monuments. The problem has several sources, including the rise of Egypt's water table over the last 30 years, the prevention of freshwater floods through the cities where the monuments stand, and leaking or non-existing sewage systems. Various solutions are also examined.

Reed, Christina; Geotimes

227

Thermoluminescence (TL) of Egyptian Blue  

Energy Technology Data Exchange (ETDEWEB)

Egyptian Blue is a synthesized crystalline pictorial pigment with formula CaCuSi/sub 4/O/sub 10/. It has been used in Egypt and Mesopotamia from the 3rd millenium B.C. A preliminary experiment on a recently synthesized sample showed that this pigment is thermoluminescent after ..beta.. irradiation (/sup 90/Sr). As the signal intensity grows linearly with the administered dose within the temperature range commonly used in TL dating, we have been looking for this phenomenon from archaeological pigments. It was encountered with two samples found in excavation. From its intensity and stability we concluded that Egyptian Blue can be dated using TL. This first and positive result encouraged us to extend the method to other types of mineral pigments synthesized by early man, and to suggest that it may be used for direct dating of ancient murals.

Schvoerer, M.; Delavergne, M.-C.; Chapoulie, R.

1988-01-01

228

Sexual Morality at the Egyptian Bar  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Instead of addressing the question of the genealogical connection between Islamic fiqh and modern Egyptian law--which is most doubtful--this paper focuses on the ways through which social actors produce morality and moral boundaries within the framework of Egyptian tribunals. It first examines the m...

Dupret, Baudouin

229

Mineralogy, geochemistry and radioactivity of some Egyptian phosphorite deposits  

Energy Technology Data Exchange (ETDEWEB)

Mineralogical, geochemical, and radiogeological studies of forty-nine phosphorite samples from three main mining areas in Egypt, Abu Tartur (Western Desert), Sibaiya (Nile Valley), and Safaga (Red Sea) have been carried out. X-ray diffraction studies of these Egyptian phosphorites show that carbonate-fluorapatite (francolite) is the major phosphorite mineral in these deposits, with partial substitution of Mg and Na for Ca, and (CO/sub 3/) for (PO/sub 4/). Other minerals identified using the x-ray diffraction and scanning electron microscope include calcite, dolomite, pyrite, quartz, gypsum, feldspars, micas and clay (smectite). The uranium content and U/P/sub 2/O/sub 5/ ratio show low values in Abu Tartur phosphorite deposits relative to the Red Sea and Nile Valley deposits. Autoradiographic studies of the Egyptian phosphorites showed that the radioactivity is unequally distributed among its constituents. The opaque pellets are the most radioactive and the bone fragments are the least radioactive. Geochemically, four distinct groups of minerals were identified in the Egyptian phosphorites according to the degree of correlation between the major apatite components and the trace elements. These mineral groups are apatite, clays, heavy minerals and leached group. The results showed that the phosphorites of Nile Valley are relatively rich in Co and Zn whereas the Red Sea phosphorites are relatively rich in Pb and U. The Western Desert phosphorites are much richer in Ti as compared to the other two areas. Relative to the world phosphorites, the Egyptian phosphorites are geochemically enriched in Co, Mn, and Ni and impoverished in Sr, Cr, U, Zn, Cu, Ti, and V.

Dabous, A.A.A.

1981-01-01

230

Mineralogy, geochemistry and radioactivity of some Egyptian phosphorite deposits  

International Nuclear Information System (INIS)

Mineralogical, geochemical, and radiogeological studies of forty-nine phosphorite samples from three main mining areas in Egypt, Abu Tartur (Western Desert), Sibaiya (Nile Valley), and Safaga (Red Sea) have been carried out. X-ray diffraction studies of these Egyptian phosphorites show that carbonate-fluorapatite (francolite) is the major phosphorite mineral in these deposits, with partial substitution of Mg and Na for Ca, and (CO3) for (PO4). Other minerals identified using the x-ray diffraction and scanning electron microscope include calcite, dolomite, pyrite, quartz, gypsum, feldspars, micas and clay (smectite). The uranium content and U/P2O5 ratio show low values in Abu Tartur phosphorite deposits relative to the Red Sea and Nile Valley deposits. Autoradiographic studies of the Egyptian phosphorites showed that the radioactivity is unequally distributed among its constituents. The opaque pellets are the most radioactive and the bone fragments are the least radioactive. Geochemically, four distinct groups of minerals were identified in the Egyptian phosphorites according to the degree of correlation between the major apatite components and the trace elements. These mineral groups are apatite, clays, heavy minerals and leached group. The results showed that the phosphorites of Nile Valley are relatively rich in Co and Zn whereas the Red Sea phosphorites are relatively rich in Pb and U. The Western Desert phosphorites are much richer in Ti as compared to the other two areas. Relative to the world phosphorites, the Egyptian phosphorites are geochemically enriched in Co, Mn, and Ni and impoverished in Sr, Cr, U, Zn, Cu, Ti, and V

1981-01-01

231

An Egyptian Geographer in Ouessant.  

Directory of Open Access Journals (Sweden)

Full Text Available Within less than twenty-four hours, I have moved from Cairo, the capital city of Egypt, with its fifteen-million population, to the Ouessant island, with its less-than-a-thousand population. At the last moment before catching the boat sailing from Brest to Ouessant, I picked up a very impressive touristic map. On board, with a coffee and a cappuccino, I made contact with some French passengers who were coming from Marseille to have a holiday in that remote island. For a naïve Egyptian ...

Atef Abdel-Hamid

2010-01-01

232

Biodiesel, the Egyptian experience  

Energy Technology Data Exchange (ETDEWEB)

Biodiesel has recently become more attractive because of its environmental benefits and the fact that it is produced from renewable resources. In recent years, research has been directed to explore plant-based oil and fats as sources for biodiesel fuels. Under Egypt's land and water supply availabilities only non- edible plants such as Jatropha, which can be grown on a large scale on noncropped marginal land and wasteland, can be considered for biodiesel production. Jatropha biodiesel fuel could be an economical alternative blending stock for diesel fuel in Egypt. Cars could be run with Jatropha biodiesel fuel without any change in motor design. The major problem associated with the use of 100 % vegetable biodiesel fuels is caused by the high fuel viscosity, besides their high pour points. (orig.)

Heikal, E.K.; Abdou, I.K. (Egyptian Petroleum Research Inst., Cairo (Egypt)), E-mail: S_a_khali@yahoo.com

2009-07-01

233

Egyptian blue — Cuprorivaite a window to ancient Egyptian technology  

Science.gov (United States)

Egyptian Blue, a multicomponent synthetic blue pigment has been recorded in ancient Egypt since the Fourth Dynasty of the Old Kingdom (2600 2480 B.C.). The pigment consisting of cuprorivaite (CaCuSi4O10) with variable amounts of wollastonite (CaSiO3), Cu-rich glass and cuprite (Cu3O) or tenorite (CuO) was prepared by melting the copper-rich ingredient with lime and desert sand. Low melting temperatures (below 742 °C) were achieved by addition of flux-like plant ashes. The high quality of the pigments collected from monuments of the Fifth Dynasty (2480 2320 B.C.) may indicate that the first manufacture was in early dynastic or perhaps predynastic eras. During the reign of Thutmosis III (18th Dynasty, 1490 1436 B.C.) probably bronze filings were first applied as starting material, thus indicating a technological innovation. This new method was employed till the Roman times.

Jaksch, H.; Seipel, W.; Weiner, K. L.; Goresy, A. El

1983-11-01

234

Goiter and Iodine Deficiency in Egyptian Oases.  

Science.gov (United States)

Urinary iodine excretion by subjects in the Egyptian New Valley oases is at a level which indicates iodine deficiency. This deficiency, plus perhaps familial tendencies, seems sufficient to be significant factor in the development of goiter. A trial of io...

Y. Coble J. Davis A. Schulert F. Heta A. Y. Awad

1968-01-01

235

Karyotype Analysis and Systematic Relationships in the Egyptian Astragalus L. (Fabaceae)  

Digital Repository Infrastructure Vision for European Research (DRIVER)

In this study the karyotype criteria of 35 taxa representing 24 species of Egyptian Astragalus have been analyzed and their impact on the systematic delimitation of the studied species is discussed. Chromosome numbers, based on x = 8 have been found in the majority of Astragalus specie...

Abdelfattah Badr; Sherif M. Sharawy

236

Eye trauma during the 2011 Egyptian revolution.  

UK PubMed Central (United Kingdom)

BACKGROUND: Cairo university hospitals are at the heart of Cairo with close proximity to Tahrir (Liberation) square and had received the vast majority of casualties during the Egyptian revolution. The aim of this study was to analyze the eye injuries during the uprising. DESIGN: Retrospective cohort study. METHODS: Data were obtained from patients' paper records, interview with treating ophthalmologists, and whenever possible patients were interviewed and examined. An electronic medical template had been specially developed for recording these data. Main outcome measures were the flow of patients and their demographics, diagnoses, visual acuities pre and post interventions, investigations and management. Whenever required results were compared at 95 % confidence interval. RESULTS: There were 184 patients (mean age 27.3 ± 9.6 years) with 195 injured eyes of whom 96.7 % were males and 11 patients had both eyes injured. Seventy seven percent of patients had been admitted within 24 h of injury. Open globe injuries comprised 87 % of the eyes of which 147 eyes received 259 imaging investigations. The presenting visual acuities were worse than 3/60 in 72.5 % of eyes which were even worse post interventions and that was significantly dependent on the presenting vision. Wound repair was the primary intervention in 85 % of eyes while 50 % of the secondary interventions were vitrectomies. CONCLUSIONS: Presenting visual acuity is a valid prognostic factor in the setting of mass eye casualty. Management of open globe injuries continues to pose difficult challenges especially bilateral ones.

Eldaly MA; Abdelhakim MA; Zaki RS; El-Shiaty AF

2013-03-01

237

Vascular endothelial growth factor in children with thalassemia major.  

UK PubMed Central (United Kingdom)

BACKGROUND: The ?-Thalassemia syndromes are the most common hereditary chronic hemolytic anemia due to impaired globin chain synthesis. Vascular endothelial growth factor (VEGF) plays several roles in angiogenesis which is a crucial process in the pathogenesis of several inflammatory, autoimmune and malignant diseases. Endothelial damage and inflammation make a significant contribution to the pathophysiology of ?-thalassemia. PURPOSE: : The aim of the study was to assess serum VEGF level in children with beta-thalassemia major as a marker of angiogenesis. METHODS: A total of 50 children entered the study, 40 patients with thalassemia major and 10 healthy controls. We used enzyme-linked immunosorbent assay for quantitative evaluation of VEGF. RESULTS: VEGF level was significantly higher in patients with ?-thalassemia major than healthy controls (p=0.001). VEGF level was also higher in splenectomised thalassemic patients than non splenectomised ones (p=0.001). There were a positive correlation between VEGF and chelation starting age (p=0.008), and a negative correlation between VEGF and frequency of blood transfusion (p=0.002). CONCLUSION: Thalassemia patients, especially splenectomized, have elevated serum levels of VEGF. Early chelation and regular blood transfusion help to decrease serum VEGF and the risk of angiogenesis.

Fahmey SS; Naguib HF; Abdelshafy SS; Alashry RE

2013-01-01

238

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.

Wazaify Mayyada; Khalil Susan S; Silverman Henry J

2009-01-01

239

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; Hami Shamshiri; Shaban Alizadeh; Akbar Dorgalaleh; Rima Manafi; Shadi Tabibian

2013-01-01

240

Pesticide exposure--Egyptian scene.  

UK PubMed Central (United Kingdom)

Pesticides have contributed to dramatic increases in crop yields and in the quantity and variety of the diet. Also, they have helped to limit the spread of certain diseases. But pesticides have harmful effects; they can cause injury to human health as well as to the environment. The range of these adverse health effects includes acute and persistent injury to the nervous system, lung damage, injury to the reproductive organs, dysfunction of the immune and endocrine systems, birth defects, and cancer. Problems associated with pesticide hazards to man and the environment are not confined to the developing countries. Developed nations have already suffered these problems, and still facing some problems in certain locations. For many reasons, the severity of pesticide hazards is much pronounced in Third World Countries. A number of long persistent organochlorines and highly toxic organophosphates, which have been banned or severely restricted, are still marketed and used in many developing countries. The misuse of pesticides by concerned individuals, in addition to lack of or weak national controlling plans are behind the outbreak of adverse effects in developing countries. Since about 25 years, the use of DDT and many other organochlorine pesticides in Egyptian agriculture has been banned. However, these long persistent compounds are still detectable in many different types of environmental samples (e.g., water, fish, sediment, vegetables, fruits, milk, foodstuffs, etc.). Large number of compounds known as "extremely hazardous", "highly hazardous", "probable human carcinogenic", and "possible human carcinogenic", are listed among the pesticides registered and recommended for use in Egypt during the season of 2001/2002. The present article deals with: trends and patterns of pesticide use, impact of pesticides on human health, factors contributing to pesticide risks, environmental impacts of pesticides, and bioaccumulation of pesticide residues in food; giving special concern to the situation in Egypt.

Mansour SA

2004-05-01

 
 
 
 
241

Clinical anatomy as practiced by ancient Egyptians.  

Science.gov (United States)

Egypt is famously known for its Nile and pyramids, yet not many people know that Egypt made possible the origin of the anatomical sciences. Several ancient papyri guide us through the Egyptians' exploration of the human body and how they applied anatomical knowledge to clinical medicine to the best of their knowledge. It is through records, such as the Edwin Smith, Ebers, and Kahun papyri and other literature detailing the work of the Egyptian embalmers, physicians, and Greek anatomists, that we are able to take a glimpse into the evolution of the anatomical sciences from 3000 B.C. to 250 B.C. It is through the Egyptian embalmer that we were able to learn of some of the first interactions with human organs and their detailed observation. The Egyptian physician's knowledge, being transcribed into the Ebers and Edwin Smith papyri, enabled future physicians to seek reference to common ailments for diagnosing and treating a variety of conditions ranging from head injuries to procedures, such as trans-sphenoidal surgery. In Alexandria, Herophilus, and Erasistratus made substantial contributions to the anatomical sciences by beginning the practice of human dissection. For instance, Herophilus described the anatomy of the heart valves along with Erasistratus who demonstrated how blood was prevented from flowing retrograde under normal conditions. Hence, from various records, we are able to unravel how Egypt paved the road for study of the anatomical sciences. PMID:21509810

Loukas, Marios; Hanna, Michael; Alsaiegh, Nada; Shoja, Mohammadali M; Tubbs, R Shane

2011-05-01

242

Clinical anatomy as practiced by ancient Egyptians.  

UK PubMed Central (United Kingdom)

Egypt is famously known for its Nile and pyramids, yet not many people know that Egypt made possible the origin of the anatomical sciences. Several ancient papyri guide us through the Egyptians' exploration of the human body and how they applied anatomical knowledge to clinical medicine to the best of their knowledge. It is through records, such as the Edwin Smith, Ebers, and Kahun papyri and other literature detailing the work of the Egyptian embalmers, physicians, and Greek anatomists, that we are able to take a glimpse into the evolution of the anatomical sciences from 3000 B.C. to 250 B.C. It is through the Egyptian embalmer that we were able to learn of some of the first interactions with human organs and their detailed observation. The Egyptian physician's knowledge, being transcribed into the Ebers and Edwin Smith papyri, enabled future physicians to seek reference to common ailments for diagnosing and treating a variety of conditions ranging from head injuries to procedures, such as trans-sphenoidal surgery. In Alexandria, Herophilus, and Erasistratus made substantial contributions to the anatomical sciences by beginning the practice of human dissection. For instance, Herophilus described the anatomy of the heart valves along with Erasistratus who demonstrated how blood was prevented from flowing retrograde under normal conditions. Hence, from various records, we are able to unravel how Egypt paved the road for study of the anatomical sciences.

Loukas M; Hanna M; Alsaiegh N; Shoja MM; Tubbs RS

2011-05-01

243

Hip morphologic measurements in an Egyptian population.  

UK PubMed Central (United Kingdom)

The study of acetabular morphology has shown that there are geographic differences in the morphology and prevalence of acetabular dysplasia among different ethnic groups. However, few data exist on the shape of the acetabulum in various populations around the world. In this study, we examined samples of pelvic radiographs from Egyptian adults. Acetabular dysplasia in adults is characterized by a shallow and relatively vertical acetabulum.The aim of this study was to examine acetabular morphology to determine the prevalence of hip dysplasia in adult Egyptians. This included 244 adults, 134 men and 110 women between 18 and 60 years, who were used to measure center edge angle, acetabular Sharp angle, acetabular head index on anteroposterior radiographic views of the hip joints, and vertical center anterior margin angle on false profile views. The radiographs were taken of patients with no hip complaints at Tanta University Hospital.The results were statistically studied according to the age, height, and weight of patients. The prevalence of acetabular dysplasia was 2.25% for Egyptian men and 3.6% for women with respect to center edge angles, vertical center anterior margin angle, and acetabular head index.We concluded that gender variations in the morphology of the acetabulum and sex influences geometrical measurements of the acetabulum. Egyptian women were more dysplastic than men using the 4 parameters of hip measurements. There are also racial variations in hip morphology.

Aly TA

2011-04-01

244

Hip morphologic measurements in an Egyptian population.  

Science.gov (United States)

The study of acetabular morphology has shown that there are geographic differences in the morphology and prevalence of acetabular dysplasia among different ethnic groups. However, few data exist on the shape of the acetabulum in various populations around the world. In this study, we examined samples of pelvic radiographs from Egyptian adults. Acetabular dysplasia in adults is characterized by a shallow and relatively vertical acetabulum.The aim of this study was to examine acetabular morphology to determine the prevalence of hip dysplasia in adult Egyptians. This included 244 adults, 134 men and 110 women between 18 and 60 years, who were used to measure center edge angle, acetabular Sharp angle, acetabular head index on anteroposterior radiographic views of the hip joints, and vertical center anterior margin angle on false profile views. The radiographs were taken of patients with no hip complaints at Tanta University Hospital.The results were statistically studied according to the age, height, and weight of patients. The prevalence of acetabular dysplasia was 2.25% for Egyptian men and 3.6% for women with respect to center edge angles, vertical center anterior margin angle, and acetabular head index.We concluded that gender variations in the morphology of the acetabulum and sex influences geometrical measurements of the acetabulum. Egyptian women were more dysplastic than men using the 4 parameters of hip measurements. There are also racial variations in hip morphology. PMID:21469630

Aly, Tarek A

2011-04-11

245

Wealth distribution in an ancient Egyptian society  

CERN Multimedia

Modern excavations yielded a distribution of the house areas in the ancient Egyptian city Akhetaten, which was populated for a short period during the 14th century BC. Assuming that the house area is a measure of the wealth of its inhabitants allows us to make a comparison of the wealth distributions in ancient and modern societies.

Abul-Magd, A Y

2002-01-01

246

Origin of the Egyptian Domestic Cat  

Digital Repository Infrastructure Vision for European Research (DRIVER)

This study presents mitochondrial genome sequences from 22 Egyptian house cats with the aim of resolving the uncertain origin of the contemporary world-wide population of Domestic cats. Together with data from earlier studies it has been possible to confirm some of the previously suggested haplotype...

Johansson, Carolin

247

Moessbauer effect study of ancient Egyptian pottery  

International Nuclear Information System (INIS)

[en] Moessbauer spectroscopy was used in examining ancient Egyptian pottery. From the values of Moessbauer parameters and the differences for the individual samples, conclusions could be drawn as to the temperature of baking and the kind of clay used in various archaeological periods. (A.K.)

1973-09-03

248

Hair-offerings: an enigmatic Egyptian custom  

Directory of Open Access Journals (Sweden)

Full Text Available The Egyptians did not record the reasons that lay behind the offering of hair. Using an holistic approach, which combines both ethnographic and ethnohistoric evidence, insights may be gained into the ancient remains of these rituals and practices.

G. J. Tassie

1996-01-01

249

Rise of the Israelo-Egyptian cooperation for energy  

International Nuclear Information System (INIS)

Cooperation between Israel and Egyptian Arab Republic relative to the petroleum trade spreads out. The most important project is about a joint venture to build in three years a petroleum refinery able to treat 100 000 barrels by day of egyptian heavy crude oil and light petroleum coming from Golf countries. This refinery would be in the area of Ameriya. An other Israelo-Egyptian project of refinery at Port-Said is under negotiations. Israel signed an Egyptian natural gas purchasing contract and then an agreement to build a gas pipeline to convey this natural gas.

1994-01-01

250

Evaluation of genetic bases and diversity of Egyptian wheat cultivars released during the last 50 years using coefficient of parentage  

Directory of Open Access Journals (Sweden)

Full Text Available Discerning the genetic diversity of any crop species provides insight into the strength of an applied breeding program and directs future breeding strategies aimed at long-term genetic gain and minimized genetic vulnerability. The number and abundance of ancestral parents present in the pedigree of crop cultivars can provide an average estimation of the depth of the genetic base of the overall crop improvement program. The objectives of this study were to estimate (1) the genetic similarity among 33 Egyptian wheat (Triticum aestivum L.) cultivars and different eras of release (1947-2004) and productivity groups based on COP values, and (2) the relative genetic contribution and abundance of ancestral parents from different geographical origins to the total gene pool of Egyptian wheat cultivars. Broad genetic diversity was observed among 33 Egyptian cultivars with average COP value of 0.11 and large numbers of ancestral parents (155 landraces) traced to 31 countries. The genetic base ranged from very low in pre 1960’s cultivars such as ‘Giza 139’ (with only 3 landraces in the background) to very high in modern cultivars such as ‘Gemmeiza-7’ (with 73 landraces in the background). ‘Hindi-62’, ‘Red Fife’, ‘Hard Red Calcutta’ and ‘Akagomughi’ were the major ancestors with 6, 5, 4, and 4% of total genetic contribution to the Egyptian wheat gene pool, respectively. Egypt, United States of America, Kenya and Ukraine were the major source countries with 16, 11, 9 and 7% of total genetic contribution to this gene pool, respectively. Though Marquis-Thatcher germplasm from North America has the greatest influence on overall Egyptian cultivars, Mexican-based sources of dwarfing and high yield, derived from ancestors such as ‘Akagomughi’ and ‘Daruma’ and exploited by the International Maize and Wheat Improvement Center (CIMMYT), were very prominent in Egyptian cultivars post 1970’s.

Bhoja R. Basnet; Mohamed B. Ali; Amir M.H. Ibrahim; Thomas Payne; Moussa G. Mosaad

2011-01-01

251

[Homozygote beta-thalassemia in 2 Dutch families  

UK PubMed Central (United Kingdom)

beta-thalassaemia is a haematological disorder which is rare in The Netherlands although the influx of carriers from Mediterranean, West Indian, and South American countries has increased its frequency. Only a few homozygotes have been found among the original Dutch population. In this article, we describe the molecular abnormality observed in two such homozygotes. Both patients were mildly affected and had the same C-G mutation in the beta-globin gene promoter at position -87 relative to the Cap site of the beta gene. This mutation is known to cause a mild beta +-thalassaemia. Additional studies of the epsilon-gamma-delta-beta-globin gene complex on chromosome II, i.e. haplotype analyses, identified three different haplotypes in the two patients. However, crossovers might have been responsible for these differences because the 3' haplotype, which involves restriction sites within and 3' to the beta-globin gene, was the same for all four chromosomes in the two homozygotes.

Yang KG; Landman H; Huisman TH

1989-10-01

252

[Minor beta thalassemia masked by a hemoglobin A2 mutant].  

UK PubMed Central (United Kingdom)

BACKGROUND: The elevation of hemoglobin A2 (HbA2) is an essential criterion in the diagnosis of minor ss thalassemia. AIM: To report a case of minor ss thalassemia HbA2 with normal HbA2 rate. OBSERVATION: We report the case of ten years old boy, with hypochromic microcytic anemia, refractory to iron treatment. The study of hemoglobin (Hb) has revealed the presence of a minor abnormal fraction of Hb, amounted to 2.8%, associated with the presence of HbF and normal levels of HbA2. Family study revealed the presence of two Hb abnormalities (ss thalassemia trait and HbA2 mutant) transmitted to offspring in isolation or associated. The genotypic study confirmed the presence of minor, 0 thalassemia and a ?/?? gene mutation, causing a new mutant HbA2 named HbA2 Pasteur-Tunis [?/?? 59(E3)LysgAsn(AAGgAAC)]. CONCLUSION: The presence of ?/?? mutant reduces HbA2 level and could hide ss thalassemia trait. Rigorous and methodical interpretation of phenotypic data is crucial to not overlook the presence of ss thalassemia trait, whose diagnosis is crucial for genetic counseling and prenatal diagnosis.

Omar S; Hammami MB; Taeib SH; Feki M; Abbes S; Kaabachi N

2010-09-01

253

Potential mechanisms for renal damage in beta-thalassemia.  

Science.gov (United States)

Improvement of survival in patients with ?-thalassemia has allowed several clinical morbidities to manifest, including renal complications. Patients may experience proximal tubular dysfunctions and abnormalities in glomerular filtration rate. Several risk factors have been proposed. Hypoxia may lead to renal damage with resulting proximal tubular epithelial cell dysfunction and interstitial fibrosis, while anemia induces renal hemodynamic changes. Iron overload secondary to regular transfusion therapy can also result in an increase in oxidative stress and direct cytotoxicity to the kidney. Moreover, the use of certain iron-chelating agents is associated with a transient, nonprogressive increase in serum creatinine levels. However, most available evidence comes from small, cross-sectional studies. Longitudinal follow-up of patients is needed to better understand the mechanisms of renal abnormalities in this patient population. PMID:23475461

Mallat, Naji S; Mallat, Samir G; Musallam, Khaled M; Taher, Ali T

2013-03-06

254

Balearic archipelago: three islands, three beta-thalassemia population patterns.  

UK PubMed Central (United Kingdom)

The mutation spectrum of 175 ?-thalassemia (?-thal) carriers, identified in pilot carrier screening on 22,713 individuals from Balearic Islands (Spain), is reported. The ?(0) CD39 (C>T) mutation is the most frequent (61.1%), followed by ?(+) IVS-I-110 (G>A) (12.0%), ?(+) IVS-I-6 (T>C) and ?(0) IVS-1-1 (G>A) (3.4% both) and eight other rare mutations (2.9-0.6%); with a distinct prevalence and distribution between islands. Minorca shows the highest prevalence in Iberian populations, with a single mutation, CD39 (C>T), present in most ?-thal carriers. Ibiza is the only Western Mediterranean population where the most frequent ?-thal mutation is IVS-I-110 (G>A). These results can be explained by a combination of historical-demographic characteristics together with evolutionary forces such as founder effect, genetic drift and probably selection by malaria. Knowledge of the mutational spectrum in the Balearic Islands will enable to optimize mutation detection strategy for genetic diagnosis of ?-thal in these islands.

López-Escribano H; Parera MM; Guix P; Serra JM; Gutierrez A; Balsells D; Oliva-Berini E; Castro JA; Ramon MM; Picornell A

2013-02-01

255

Chemical composition of Egyptian and UAE propolis.  

UK PubMed Central (United Kingdom)

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%.

Said SA; Khan SA; Ahmad I; Ali HS

2006-01-01

256

The thermoluminescence (TL) of Egyptian Blue  

International Nuclear Information System (INIS)

Egyptian Blue is a synthesized crystalline pictorial pigment with formula CaCuSi4O10. It has been used in Egypt and Mesopotamia from the 3rd millenium B.C. A preliminary experiment on a recently synthesized sample showed that this pigment is thermoluminescent after ? irradiation (90Sr). As the signal intensity grows linearly with the administered dose within the temperature range commonly used in TL dating, we have been looking for this phenomenon from archaeological pigments. It was encountered with two samples found in excavation. From its intensity and stability we concluded that Egyptian Blue can be dated using TL. This first and positive result encouraged us to extend the method to other types of mineral pigments synthesized by early man, and to suggest that it may be used for direct dating of ancient murals. (author)

1988-01-01

257

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

258

Homer and Herodotus to Egyptian medicine.  

UK PubMed Central (United Kingdom)

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.

Rossi M

2010-12-01

259

The entheomycological origin of Egyptian crowns and the esoteric underpinnings of Egyptian religion.  

Science.gov (United States)

In this paper, I theorize that the Egyptian White and Triple Crowns were originally primordia of the entheogenic Psilocybe (Stropharia) cubensis, which an Egyptian tale known as Cheops and the Magicians allegorically explained grew on barley, and that Osiris was the God of spiritual rebirth because he personified this and other entheogenic mushrooms. I go on to theorize that the plant known commonly as the Eye of Horus, which the Egyptians included in cakes and ales designed to spiritually rebirth the living and the dead, was an entheogenic mushroom cap entirely analogous, if not identical, to Soma. Finally, I explain why so many scholars failed to discern these identities and relationships for so long. PMID:16199133

Berlant, Stephen R

2005-09-30

260

The entheomycological origin of Egyptian crowns and the esoteric underpinnings of Egyptian religion.  

UK PubMed Central (United Kingdom)

In this paper, I theorize that the Egyptian White and Triple Crowns were originally primordia of the entheogenic Psilocybe (Stropharia) cubensis, which an Egyptian tale known as Cheops and the Magicians allegorically explained grew on barley, and that Osiris was the God of spiritual rebirth because he personified this and other entheogenic mushrooms. I go on to theorize that the plant known commonly as the Eye of Horus, which the Egyptians included in cakes and ales designed to spiritually rebirth the living and the dead, was an entheogenic mushroom cap entirely analogous, if not identical, to Soma. Finally, I explain why so many scholars failed to discern these identities and relationships for so long.

Berlant SR

2005-11-01

 
 
 
 
261

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.

Omar Abdel-Kareem; Yasin Zidan; Nadia Lokma; Hanaa Ahmed

2008-01-01

262

Egyptian plant species as new ozone indicators.  

Science.gov (United States)

The aim of this study was to test and select one or more highly sensitive, specific and environmentally successful Egyptian bioindicator plants for ozone (O3). For that purpose more than 30 Egyptian species and cultivars were subjected to extensive screening studies under controlled environmental and pollutant exposure conditions to mimic the Egyptian environmental conditions and O3 levels in urban and rural sites. Four plant species were found to be more sensitive to O3 than the universally used O3-bioindicator, tobacco Bel W3, under the Egyptian environmental conditions used. These plant species, jute (Corchorus olitorius c.v. local), clover (Trifolium alexandrinum L. c.v. Masry), garden rocket (Eruca sativa c.v. local) and alfalfa (Medicago sativa L. c.v. local), ranked in order of decreasing sensitivity, exhibited typical O3 injury symptoms faster and at lower 03 concentrations than Bel W3. Three variables were tested in search of a reliable tool for the diagnosis and prediction of O3 response prior to the appearance of visible foliar symptoms: pigment degradation, stomatal conductance (g(s)) and net photosynthetic CO2 assimilation (Pnet). Pigment degradation was found to be unreliable in predicting species sensitivity to O3. Evidence supporting stomatal conductance involvement in 03 tolerance was found only in tolerant species. A good correlation was found between g(s), restriction of O3 and CO2 influx into the mesophyll tissues, and Pnet. Changes in Pnet seemed to depend largely on fluctuations in g(s). PMID:12395848

Madkour, Samia A; Laurence, J A

2002-01-01

263

Weak D types in the Egyptian population.  

Science.gov (United States)

Patients with the most common weak D types 1, 2, and 3 can be safely considered D positive. We evaluated 1,113 Rh-negative Egyptian samples for weak D expression to propose a cost-effective strategy related to D variant testing. D variants were tested using polymerase chain reaction with sequence-specific priming. Fifty samples were D variants (4.5%): weak D type 4.2 (32%), weak D type 4.0/4.1 (16%), and weak D type 15 (2%). Fifteen (62.5%) of 24 samples were identified serologically as partial D. We also studied the probability of the development of anti-D in 52 Rh-negative children with thalassemia who were receiving units for which weak D was not tested. Anti-D alloimmunization was observed in 63.5% of patients with thalassemia. It is prudent to implement weak D typing in Egyptian donors. Weak D variants of Egyptians are significantly different compared with Caucasians. Ethnicity must be taken into consideration when developing clinical and prenatal strategies related to D variants. PMID:23690125

Hussein, Eiman; Teruya, Jun

2013-06-01

264

Body composition in Egyptian Turner syndrome girls.  

UK PubMed Central (United Kingdom)

OBJECTIVE: This cross-sectional study was undertaken to construct the new body fat % curve and provide body composition reference data for adolescent girls with Turner syndrome (TS). They diagnosed cytogenetically by blood karyotyping and not treated with growth hormone (GH). MATERIALS AND METHODS: The study included 70 TS girls from age 13 years to age 17 years. Body composition was measured by bioelectrical impedance. Smoothed centile charts were derived by using the least mean square (LMS) method. RESULTS: The new body fat curves reflect the increase of body fat mass (FM) from age 13 years to age 17 years. Body FM % of Egyptian TS girls was lower when compared with age-matched American untreated TS girls. CONCLUSION: This study presents the new body fat curves and reference values of body composition for untreated Egyptian TS adolescent girls. The present charts can be used for direct assessment of body FM % for Egyptian TS girls and evaluation for cases on GH treatment or other growth promoting therapy.

Zaki ME; Afifi HH

2013-04-01

265

The antinociceptive effect of some Egyptian medicinal plant extracts.  

UK PubMed Central (United Kingdom)

The antinociceptive effect of methanolic extracts (200 and 400 mg kg(-1)) of eight Egyptian medicinal plants was studied using acetic acid-induced writhing and tail-flick test in mice. Oral administration of 400 mg kg(-1) methanolic extracts of Convolvulus fatmensis, Alhagi maurorum, Plantago major seeds, Conyza dioscaridis significantly (P < 0.05) inhibited the nociception to acetic acid-induced writhes with a protection of 85.5-61.3%. Schouwia thebaica, Diplotaxis acris, Plantago major leaves and Mentha microphylla, in the large dose, showed a protection of 50.8-45.8%, which were significantly different as compared to control. The smaller dose of the tested plant extracts did not protect animals from painful acetic acid stimulation with the exception of Alhagi maurorum. In the tail-flick test, methanolic extracts of Mentha microphylla, Conyza dioscaridis, Alhagi maurorum, Plantago major leaves, Diplotaxis acris and Convolvulus fatmensis in a dose of 400 mg kg(-1) produced significant increase in the latency to response of tail to thermal stimulation. Mild or no effect was observed by the small dose with the exception of Diplotaxis acris that had significant antinociceptive effect at the dose of 200 mg kg(-1). The extracts of all tested plants in doses up to 2 g kg(-1) b.wt. did not cause any deaths or major signs of acute toxicity. Phytochemical screening indicated the presence of unsaturated sterols, triterpenes, tannins, flavonoids and carbohydrates and/or glycosides as major constituents.

Atta AH; Abo EL-Sooud K

2004-12-01

266

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

1999-01-01

267

Efficacy of combined desferrioxamine and deferiprone versus single desferrioxamine therapy in patients with major thalassemia.  

UK PubMed Central (United Kingdom)

The aim of this study was to investigate the efficacy and safety of oral iron chelators, deferiprone in combination with desferrioxamine in comparison with desferrioxamine alone. A total of 70 transfusion-dependent thalassemia major patients were randomly selected to receive one of the following two treatments: deferiprone in combination with desferrioxamine (n=35, desferrioxamine+deferiprone group) or desferrioxamine alone (n=35, desferrioxamine-only group). Changes in serum ferritin, liver enzymes (alanine aminotransferase and aspartate aminotransferase), blood urea nitrogen, and creatinin were evaluated before the treatment and then six and 12 months after the treatment, and any side effect caused by iron chelators was reported during the study. Student's t-test and repeated measures were used to compare different mean values for quantitative data and Chi-square to compare qualitative data. Serum ferritin decreased more significantly in patients on desferrioxamine+deferiprone therapy compared to patients who only received desferrioxamine (P<0.017). Side effects of deferiprone, including neutropenia, severe gastrointestinal upset, and arthropathy occurred in eight, four, and two patients, respectively but none led to discontinuation of the treatment. Beta-thalassemia major patients with iron overload due to transfusion could be successfully treated with a combination of desferrioxamine and deferiprone. This regimen is more effective than desferrioxamine-only therapy in decreasing serum ferritin; therefore, it also could be more effective in reducing iron overload and related complications in beta-thalessemia major patients.

Zareifar S; Jabbari A; Cohan N; Haghpanah S

2009-09-01

268

Efficacy of combined desferrioxamine and deferiprone versus single desferrioxamine therapy in patients with major thalassemia.  

Science.gov (United States)

The aim of this study was to investigate the efficacy and safety of oral iron chelators, deferiprone in combination with desferrioxamine in comparison with desferrioxamine alone. A total of 70 transfusion-dependent thalassemia major patients were randomly selected to receive one of the following two treatments: deferiprone in combination with desferrioxamine (n=35, desferrioxamine+deferiprone group) or desferrioxamine alone (n=35, desferrioxamine-only group). Changes in serum ferritin, liver enzymes (alanine aminotransferase and aspartate aminotransferase), blood urea nitrogen, and creatinin were evaluated before the treatment and then six and 12 months after the treatment, and any side effect caused by iron chelators was reported during the study. Student's t-test and repeated measures were used to compare different mean values for quantitative data and Chi-square to compare qualitative data. Serum ferritin decreased more significantly in patients on desferrioxamine+deferiprone therapy compared to patients who only received desferrioxamine (P<0.017). Side effects of deferiprone, including neutropenia, severe gastrointestinal upset, and arthropathy occurred in eight, four, and two patients, respectively but none led to discontinuation of the treatment. Beta-thalassemia major patients with iron overload due to transfusion could be successfully treated with a combination of desferrioxamine and deferiprone. This regimen is more effective than desferrioxamine-only therapy in decreasing serum ferritin; therefore, it also could be more effective in reducing iron overload and related complications in beta-thalessemia major patients. PMID:19722772

Zareifar, Soheila; Jabbari, Abdolhamid; Cohan, Nader; Haghpanah, Sezaneh

2009-09-01

269

The antinociceptive effect of some Egyptian medicinal plant extracts.  

Science.gov (United States)

The antinociceptive effect of methanolic extracts (200 and 400 mg kg(-1)) of eight Egyptian medicinal plants was studied using acetic acid-induced writhing and tail-flick test in mice. Oral administration of 400 mg kg(-1) methanolic extracts of Convolvulus fatmensis, Alhagi maurorum, Plantago major seeds, Conyza dioscaridis significantly (P Alhagi maurorum. In the tail-flick test, methanolic extracts of Mentha microphylla, Conyza dioscaridis, Alhagi maurorum, Plantago major leaves, Diplotaxis acris and Convolvulus fatmensis in a dose of 400 mg kg(-1) produced significant increase in the latency to response of tail to thermal stimulation. Mild or no effect was observed by the small dose with the exception of Diplotaxis acris that had significant antinociceptive effect at the dose of 200 mg kg(-1). The extracts of all tested plants in doses up to 2 g kg(-1) b.wt. did not cause any deaths or major signs of acute toxicity. Phytochemical screening indicated the presence of unsaturated sterols, triterpenes, tannins, flavonoids and carbohydrates and/or glycosides as major constituents. PMID:15507342

Atta, A H; Abo EL-Sooud, K

2004-12-01

270

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

1992-01-01

271

German-Egyptian seminar on environmental research  

International Nuclear Information System (INIS)

[en] 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)

1994-01-01

272

SURGICAL PROCEDURES DURING ANCIENT EGYPTIAN MUMMIFICATION  

Scientific Electronic Library Online (English)

Full Text Available Abstract in spanish Los 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 Abstract in english 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 mummification

Brier, Bob; Wade, Ronald S.

2001-01-01

273

SURGICAL PROCEDURES DURING ANCIENT EGYPTIAN MUMMIFICATION  

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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; Ronald S. Wade

2001-01-01

274

Association of resistin gene polymorphisms with insulin resistance in Egyptian obese patients.  

UK PubMed Central (United Kingdom)

BACKGROUND: Obesity associated insulin resistance is a major risk factor for type 2 diabetes mellitus. Resistin is recently reported to provide a link between obesity, insulin resistance and type 2 diabetes mellitus. We aimed to investigate the possible associations of resistin gene (RETN) polymorphisms with obesity, and to detect whether these polymorphisms are associated with glucose intolerance and type 2 diabetes mellitus in obese patients. METHODS: One hundred and forty-five Egyptian obese patients with or without glucose intolerance and 155 unrelated healthy controls were enrolled in this study. Polymorphisms of RETN +299G>A and RETN -420 C>G gene were detected by polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP). Serum resistin was measured by ELISA. RESULTS: RETN +299 AA and RETN -420 GG genotypes were significantly associated with obesity in Egyptian population. Moreover, the mutant alleles or genotypes of both examined polymorphisms were associated with impaired glucose tolerance and diabetes mellitus compared to normal glucose tolerant obese patients. Furthermore, our results revealed elevated waist/hip ratio, BMI, blood pressure, fasting blood glucose level, HOMA-IR, triglycerides, total cholesterol, resistin level, and decreased HDL cholesterol level in homozygote mutant genotypes carriers of both RETN polymorphisms among obese patients. CONCLUSION: Resistin gene polymorphisms may play an important role in pathogenesis and susceptibility to obesity, impaired glucose tolerance, and type 2 diabetes mellitus in Egyptian population.

El-Shal AS; Pasha HF; Rashad NM

2013-02-01

275

Geographical and social influences on genetic diversity within the Egyptian population: analyses of Alu insertion polymorphisms.  

UK PubMed Central (United Kingdom)

Abstract Background: The geographical location of Egypt at the crossroads of several major cultural areas between North Africa and the Middle East has contributed to its population history. Aim: To analyse the genetic structure of the population living in two geographical parts of Egypt. Subjects and methods: A sample of 112 Egyptians from the North African part of Egypt (Ismailia sample) and a sample of 52 Egyptians from the Asian part Sinai, have been analysed using 10 Alu insertion polymorphisms. Results: The results of the present study showed a significant genetic difference between the Sinai and Ismailia samples. The latter showed an evident genetic affinity with North African populations; whereas the Sinai sample was found to be genetically closer to the Middle East populations. The Sinai sample showed a low average heterozygosity, unlike that found in the Ismailia sample. Conclusion: This study provides new insights into the genetic structure of the Egyptian population living in a land bridge between Africa and Asia. Results suggest a genetic discontinuity between the Sinai population and that of the North African part of Egypt. This discontinuity would have been maintained thanks to geo-climatic and social factors.

Salem AH; Bahri R; Jarjanazi H; Chaabani H

2013-09-01

276

Applications of external PIXE to ancient Egyptian artefacts  

Energy Technology Data Exchange (ETDEWEB)

The external Proton Induced X-Ray Emission (PIXE) facility at Royal Melbourne Institute of Technology has been used to analyse ancient Egyptian glass samples, an Egyptian wall paint fragment and soil pigments. A 0.35 mm diameter beam of 1.6 MeV protons, extracted from the vacuum through an 8 {mu}m gold coated Kapton foil was used. Analysis of the spectra was carried out with the analysis package PIXAN. The analysis of two Egyptian glass samples enabled the partial determination of the colouring transition metals and the manufacturing technique, indicating them to be consistent with `New Kingdom` glasses. Extended abstract. 14 refs.,3 figs.

Moser, M.; Bubb, I.F.; Johnston, N.; El Bouanani, M.; Stannard, W.B.; Short, R.C. [Royal Melbourne Institute of Technology, Melbourne, (Australia). Department of Applied Physics

1998-06-01

277

The structure of Templer's Death Anxiety Scale among Egyptian students.  

UK PubMed Central (United Kingdom)

Using a standardized Arabic version of the Templer Death Anxiety Scale with Egyptian students (214 males and 214 females), five factors were extracted which corresponded to those reported for several cultures in Asia, Europe, Africa, and America. Means for the Egyptian students of both sexes were significantly higher than those reported in Arab and western cultures. Egyptian female students scored significantly higher than males. The first two factors were mostly comprised of items relating to cognitive/affective components of death and life experiences. These observations support the universality of structures within death anxiety across culture and gender.

Abdel-Khalek A; Beshai JA; Templer DI

1993-06-01

278

Applications of external PIXE to ancient Egyptian artefacts  

International Nuclear Information System (INIS)

The external Proton Induced X-Ray Emission (PIXE) facility at Royal Melbourne Institute of Technology has been used to analyse ancient Egyptian glass samples, an Egyptian wall paint fragment and soil pigments. A 0.35 mm diameter beam of 1.6 MeV protons, extracted from the vacuum through an 8 ?m gold coated Kapton foil was used. Analysis of the spectra was carried out with the analysis package PIXAN. The analysis of two Egyptian glass samples enabled the partial determination of the colouring transition metals and the manufacturing technique, indicating them to be consistent with 'New Kingdom' glasses

1998-01-01

279

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.

280

Nutritive Value of Irradiated Egyptian Truffles  

International Nuclear Information System (INIS)

In this study, the nutritive value of truffles was evaluated as protein efficiency ratio (C-PER) compared with casein C-PER. of white truffle was higher than brown truffle and therefore had a better nutritional quality over the brown truffle. Egyptian truffle could be considered as a good source of protein with good essential amino acids content and high nutritive value. It was found that white and brown truffles (Al-Kamah) grow in the north westarn coast of the Egyptian desert, white truffle was identified as Tirmania nivea while brown truffle was identified as Terfezia boudieri. Rats were fed on normal diet as (basal diet) for two weeks, then they were fed on the same diet with 10% of casein (control diet), replaced by 20% of irradiated and non irradiated white and brown truffle dried samples as a protein source. The nutritive value parameters were measured at the end of the experiment, gains in body weight, daily food intake, feed conversion ratio, protein efficiency ratio were measured, biological value, the biological effect on liver kideny function serum glucose. LDL and HDL-cholesterol were investigated too

2005-01-01

 
 
 
 
281

Antibacterial activity of selected Egyptian ethnomedicinal plants  

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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.

Selim, S. A. H.; El Alfy, S. H.; Abdel Aziz, M.H.; Mashait, M.; Warrad, M.F.

2013-01-01

282

Application of Moessbauer spectroscopy in investigating Egyptian archaeology  

International Nuclear Information System (INIS)

This article summarizes the results of applications of the Moessbauer spectroscopy to investigate Ancient Egyptian pottery from the periods: Ancient Egyptian (3200-525 B.C.), Greek-Roman (320 B.C.-640 A.C.) and Early Islamic (800-1000 A.C.). Many objective informations deduced about: provinance, manufacturing techniques for different domestic purposes, civilization transfer between the Arab countries, methods of colouration and applying decorating glazes, and finally dating of ancient pottery. (orig.).

1988-01-01

283

Genetic drift evolution under vaccination pressure among H5N1 Egyptian isolates  

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Full Text Available Background The highly pathogenic H5N1 is a major avian pathogen that intensively affects the poultry industry in Egypt even in spite of the adoption of vaccination strategy. Antigenic drift is among the strategies the influenza virus uses to escape the immune system that might develop due to the pressure of extensive vaccination. H5N1 mutates in an intensified manner and is considered a potential candidate for the possible next pandemic with all the catastrophic consequences such an eventuality will entail. Methods H5N1 was isolated from the pooled organ samples of four different affected flocks in specific pathogen free embryonated chicken eggs (SPF-ECE). A reverse transcriptase polymerase chain reaction (RT-PCR) was performed to the haemagglutingin and neuraminidase. Sequencing of the full length haemagglutingin was performed. Sequence analyses of the isolated strains were performed and compared to all available H5N1 from Egyptian human and avian strains in the flu database. Changes in the different amino acid that may be related to virus virulence, receptor affinity and epitope configuration were assigned and matched with all available Egyptian strains in the flu database. Results One out of the four strains was found to be related to the B2 Egyptian lineage, 2 were related to A1 lineage and the 4th was related to A2 lineage. Comparing data obtained from the current study by other available Egyptian H5N1 sequences remarkably demonstrates that amino acid changes in the immune escape variants are remarkably restricted to a limited number of locations on the HA molecule during antigenic drift. Molecular diversity in the HA gene, in relevance to different epitopes, were not found to follow a regular trend, suggesting abrupt cumulative sequence mutations. However a number of amino acids were found to be subjected to high mutation pressure. Conclusion The current data provides a comprehensive view of HA gene evolution among H5N1 subtype viruses in Egypt. Egyptian H5N1-AIVs are constantly undergoing genetic changes and reveal a complex pattern of drifts. These findings raise the concerns about the value of using influenza vaccines in correlation with the development of antigenic drift in influenza epidemics.

Abdel-Moneim Ahmed S; Afifi Manal A; El-Kady Magdy F

2011-01-01

284

Radon progeny in Egyptian underground phosphate mines.  

UK PubMed Central (United Kingdom)

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.

el-Hady MA; Mohammed A; el-Hussein A; Ali AE; Ahmed AA

2001-01-01

285

Higher Education Externalities in Egyptian Labor Markets  

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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

2013-01-01

286

Examination of an Egyptian mummy - stereolithography applied  

International Nuclear Information System (INIS)

[en] 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)

1994-01-01

287

Zoonotic Chicken Toxoplasmosis in Some Egyptians Governorates  

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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.

Ashraf Mohamed Barakat; Lobna Mohamed Ali Salem; Adel M. Abdel-Aziz El-Newishy; Raafat Mohamed Shaapan; Ehab Kotb El-Mahllawy

2012-01-01

288

Enhancement of the folate content in Egyptian pita bread  

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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.

Mohammed Hefni; Cornelia M. Witthöft

2012-01-01

289

Enhancement of the folate content in Egyptian pita bread.  

UK PubMed Central (United Kingdom)

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.

Hefni M; Witthöft CM

2012-01-01

290

Connecting Philosophy of Ancient Egyptians to Modern Thinking  

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Full Text Available 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 elements, which are ontology and cosmology. Arguments in ontology explain why most activities of people from the ancient Egypt involved agriculture and how they perceived their lives in the midst of this activity, this includes the concept of human creator; treatment to man and woman; and Egyptians? Gods and Goddesses. In addition, cosmology analyses the universe; everything inside and out of it, as well as what makes them stay and move. Results: Whereas, epistemology refers to how ancient Egyptians appreciated the existence of knowledge among them by considering the sources, types, categories and importance of particular knowledge that was gained in different ways. Besides, the aspects of axiology are also discussed here, especially in the ancient Egypt?s hieroglyphics. This writing discusses the level of aesthetical value posed by all these Egyptians, even at the time of about 3000 B.C. They could discuss to form pictographic as their written language. This activity lasted for thousands of years. Conclusion: Last but not the least, logic is another aspect that can be used in the discussion across metaphysics, epistemology and also axiology, for instance, the thinking of the philosophy behind Egyptians life. This writing relates the philosophy of ancient Egypt with the life of the modern world, not only in Egypt, but also in another part of the world, which exist from the impact of the philosophy of ancient Egypt. Modern views of Egyptians? thinking are often vastly based on what their people had and thought of in the ancient days.

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

2012-01-01

291

Association of estrogen receptor alpha gene polymorphisms with metabolic syndrome in Egyptian women.  

UK PubMed Central (United Kingdom)

OBJECTIVE: Metabolic syndrome is a risk factor for coronary heart diseases as well as diabetes, fatty liver and several cancers. The prevalence of metabolic syndrome in women appears to be increasing, particularly in women of childbearing age. In the present study, we assessed the association of estrogen receptor-alpha gene polymorphisms (XbaI and PvuII) with metabolic syndrome and its related phenotypes. MATERIALS/METHODS: One hundred and fifty Egyptian female patients with metabolic syndrome (mean age 35.52±6.86) were compared with one hundred and fifty age matched healthy Egyptian women (controls). The component traits of metabolic syndrome were determined, and the XbaI and PvuII genotypes were assessed with the PCR-RFLP method. RESULTS: Our data indicated a significant difference in the allele frequencies of XbaI, but not PvuII, between the metabolic syndrome and control groups (P=0.0003 and P=0.164). Carriers of the minor alleles of XbaI and PvuII gene polymorphisms, in either the homozygous or heterozygous form, were associated with high diastolic blood pressure, high total cholesterol and LDL-c levels, increased HOMA-IR values and decreased QUICKI values compared to carriers of the major allele. However, only the minor G allele of XbaI was associated with measures of adiposity, specifically, BMI and waist circumference. CONCLUSIONS: The XbaI polymorphism of the estrogen receptor alpha gene is associated with metabolic syndrome. On the other hand, PvuII gene polymorphism is not associated with the occurrence of the disease in this sample of Egyptian women.

Ghattas MH; Mehanna ET; Mesbah NM; Abo-Elmatty DM

2013-10-01

292

Egyptian Revolution: A Demographic Structural Analysis  

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Full Text Available It is not surprising that Mubarak’s administration “overlooked” the social explosion. Indeed, statistical data righteously claimed that the country was developing very successfully. Economic growth rates were high (even in the crisis years). Poverty and inequality levels were among the lowest in the Third World. Global food prices were rising, but the government was taking serious measures to mitigate their effect on the poorest layers of the population. Unemployment level (in per cent) was less than in many developed countries of the world and, moreover, was declining, and so were population growth rates. What would be the grounds to expect a full-scale social explosion? Of course, the administration had a sort of reliable information on the presence of certain groups of dissident “bloggers”, but how could one expect that they would be able to inspire to go to the Tahrir any great masses of people? It was even more difficult to figure out that Mubarak’s regime would be painfully struck by its own modernization successes of the 1980s, which led to the sharp decline of crude death rate and especially of infant and child mortality in 1975–1990. Without these successes many young Egyptians vehemently demanding Mubarak’s resignation (or even death) would have been destined to die in early childhood and simply would not have survived to come out to the Tahrir Square.

Andrey V. Korotayev; Julia V. Zinkina

2011-01-01

293

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

294

Pharmacoeconomic education in Egyptian schools of pharmacy.  

UK PubMed Central (United Kingdom)

OBJECTIVE. To investigate the status of pharmacoeconomics education in Egyptian schools of pharmacy and compile and construct recommendations on how Egypt and similar countries could improve their educational infrastructure in pharmacoeconomics. METHODS. A modified version of a published survey instrument was sent to all schools of pharmacy in Egypt (n= 24). The data were assessed to identify associations between offering pharmacoeconomics education and school characteristics. RESULTS. Usable responses were obtained from 20 schools (response rate: 83%). Only 7 schools offered pharmacoeconomics education, with a median of 20 teaching hours per semester. Among respondents, 4 schools had instructors with some training in pharmacoeconomics and only 1 school had a faculty member with PhD-level training. Only 4 schools offered graduate-level courses in pharmacoeconomics. Eight additional schools expressed interest in teaching pharmacoeconomics in the near future. Having 1 or more faculty members with training in pharmacoeconomics was significantly associated with offering pharmacoeconomics education (p = 0.03). CONCLUSIONS. Pharmacoeconomics education in Egypt is still in its infancy and there exists a unique opportunity for well-trained instructors and researchers to fill this gap. Providing structured pharmacoeconomics education to student pharmacists, researchers, and stakeholders can help countries establish an integrated scientific community that can start applying pharmacoeconomic evidence to healthcare decision-making.

Soliman AM; Hussein M; Abdulhalim AM

2013-04-01

295

Uranium potentialities in the Egyptian phosphate  

International Nuclear Information System (INIS)

The phosphate deposits of Egypt are of Upper Cretaceous age and are known to occur in three main provinces: The Red Sea Coast, Nile valley and Abu Tartour plateau near El Kharga Oasis, western desert. During the last several years 600,000 tons of phosphate rock were produced annually. Half of this amount are commercially processed for fertilizer and phosphate chemicals while the rest are exported. Confirmed reserves are estimated to be 30 million tons, 75 million tons and 700 million tons at the Red Sea Region, Nile valley, and Abu Tartour plateau respectively. This can show the importance of the phosphate rocks as a potential source of uranium. Uranium analyses previously reported and presented obtained for about 3000 samples in the different studied areas. In general it is within the range of 12 to 185g uranium/ton ore. Uranium seldom if ever forms its own minerals within the rock but it is caught up in the framework of the phosphate minerals. In fact the uranium is found to be completely in the tetravalent state at Abu Tartour phosphorites. On the other hand the estimated tetravalent uranium is 70 and 80% for the Nile Valley and The Red Sea Coast phosphates respectively. Moreover, post depositional enrichment of uranium in the Red Sea phosphate was less than that of the Nile Valley and greater than that of Abu Tartour phosphate. The uranium potentialities in the Egyptian phosphates could be estimated as 80,000 tons uranium.

1988-01-01

296

Addressing the issue of Uncertainty within the Egyptian agricultural sector  

UK PubMed Central (United Kingdom)

Within a one year time horizon, there are a myriad of decisions to be made regardingregional production of agricultural commodities (1st stage decisions) as well as nationaldecisions regarding imports and exports of agricultural goods (second stage decisions). In this paper, we use the static Egyptian Agricultural Sector Model (EASM) andstochastic programming methodology to explore what level of uncertainty decision markerspresently perceive regarding the value of different agricultural goods on internationalmarkets. Based on historic trends and observed data, we derived a set of scenarios thatEgyptian decision makers might perceive as likely and included these as scenarios withinthe stochastic model. This procedure highlights the strengths of the stochastic modelingapproach over a deterministic model because it allows us to address issues of behaviorand risk perception. As an additional exercise we also investigate how Egyptian croppingpatterns might change in response to c...

Charles H. Rosa; David N. Yates

297

Antidiarrhoeal activity of some Egyptian medicinal plant extracts.  

Science.gov (United States)

The antidiarrhoeal activity of six Egyptian medicinal plant extracts (200 and 400 mg kg(-1)) and their effect on motility of isolated rabbit's duodenum was investigated. Phytochemical screening of the plant extracts for their active constituents was also carried out by TLC. Oral administration of methanol extract from Conyza dioscoridis (CD) or Alhagi maurorum (AM) in a 200 mg kg(-1) dose exhibits a significant antidiarrhoeal effect against castor oil-induced diarrhoea, while Mentha microphylla (MM), Convolvulus arvensis (CA), Conyza linifolia (CL) produced no significant effect. In a dose of 400 mg kg(-1), Mentha microphylla, Conyza dioscoridis, Alhagi maurorum, Zygophyllum album (ZA), and Conyza linifolia produced a significant (PAlhagi maurorum and Conyza linifolia increased the contractile force in concentrations between 0.4 and 1.6 mg ml(-1). Higher concentrations (>3.2 mg ml(-1)) caused a rapid depressant effect. The depressant effect induced by Alhagi maurorum (in a higher dose) and Zygophyllum album appeared to be due to calcium channel blocking effect, since CaCl(2) could not restore the contractile response of the tissue impregnated in calcium free-medium. However, a ganglionic blocking effect appeared to be a possible mechanism of action of Mentha microphylla and Conyza dioscoridis since a stimulant dose of nicotine could not restore the contractile response of the tissue. The effect of Convolvulus arvensis and Conyza linifolia was not through any of the common mediators. Phytochemical screening revealed the presence of tannins, flavonoids, unsaturated sterols/triterpenes, carbohydrates, lactones and proteins/amino acids as major constituents. PMID:15138016

Atta, Attia H; Mouneir, Samar M

2004-06-01

298

Antidiarrhoeal activity of some Egyptian medicinal plant extracts.  

UK PubMed Central (United Kingdom)

The antidiarrhoeal activity of six Egyptian medicinal plant extracts (200 and 400 mg kg(-1)) and their effect on motility of isolated rabbit's duodenum was investigated. Phytochemical screening of the plant extracts for their active constituents was also carried out by TLC. Oral administration of methanol extract from Conyza dioscoridis (CD) or Alhagi maurorum (AM) in a 200 mg kg(-1) dose exhibits a significant antidiarrhoeal effect against castor oil-induced diarrhoea, while Mentha microphylla (MM), Convolvulus arvensis (CA), Conyza linifolia (CL) produced no significant effect. In a dose of 400 mg kg(-1), Mentha microphylla, Conyza dioscoridis, Alhagi maurorum, Zygophyllum album (ZA), and Conyza linifolia produced a significant (P<0.01) effect, while Convolvulus arvensis produced no antidiarrhoeal effect in rats. Methanol extract of Mentha microphylla, Conyza dioscoridis, Zygophyllum album, and Convolvulus arvensis induced a dose-dependent (0.4-2.8 mg ml(-1)) relaxation of rabbit's duodenal smooth muscle. Alhagi maurorum and Conyza linifolia increased the contractile force in concentrations between 0.4 and 1.6 mg ml(-1). Higher concentrations (>3.2 mg ml(-1)) caused a rapid depressant effect. The depressant effect induced by Alhagi maurorum (in a higher dose) and Zygophyllum album appeared to be due to calcium channel blocking effect, since CaCl(2) could not restore the contractile response of the tissue impregnated in calcium free-medium. However, a ganglionic blocking effect appeared to be a possible mechanism of action of Mentha microphylla and Conyza dioscoridis since a stimulant dose of nicotine could not restore the contractile response of the tissue. The effect of Convolvulus arvensis and Conyza linifolia was not through any of the common mediators. Phytochemical screening revealed the presence of tannins, flavonoids, unsaturated sterols/triterpenes, carbohydrates, lactones and proteins/amino acids as major constituents.

Atta AH; Mouneir SM

2004-06-01

299

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE IN EGYPTIAN CHILDREN  

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Full Text Available Background: Tuberculosis remains a major health problem in developing countries especially with the emergence of multidrug resistant strains. Mendelian Susceptibility to Mycobacterial Disease (MSMD) is a rare disorder with impaired immunity against mycobacterial pathogens. Reported MSMD etiologies highlight the crucial role of the Interferon gamma /Interleukin 12 (IFN-g/ IL-12) axis and the phagocyte respiratory burst axis.Purpose: Screen patients with possible presentations for MSMD.Methods: Patients with disseminated BCG infection following vaccination, atypical mycobacterial infections or recurrent tuberculosis infections were recruited from the Primary Immune Deficiency Clinic at Cairo University Specialized Pediatric Hospital, Egypt and immune and genetic laboratory investigations were conducted at Human Genetic of Infectious Diseases laboratory in Necker Medical School, France from 2005-2009. IFN-g level in patient’s plasma as well as mutations in the eight previously identified MSMD-causing genes were explored.Results: Nine cases from eight (unrelated) kindreds were evaluated in detail. We detected a high level of IFN-g in plasma in one patient. Through Sanger sequencing, a homozygous mutation in the IFNGR1 gene at position 485 corresponding to an amino acid change from serine to phenylalanine (S485F), was detected in this patient.Conclusion: We report the first identified cases of MSMD among Egyptian patients, including in particular a new IFNGR1 mutation underlying IFN-gR1 deficiency. The eight remaining patients need to be explored further. These findings have implications regarding the compulsory Bacillus Calmette Guerin vaccination policy in Egypt, especially given the high consanguinity rate.Keywords: Interferon gamma axis, mycobacterium tuberculosis, BCG, consanguinity

Nermeen Galal; Jeannette Boutros; Aisha Marsafy; Xiao-Fei Kong; Jacqueline Feinberg; Jean-Laurent Casanova; Stéphanie Boisson-Dupuis; Jacinta Bustamante

2012-01-01

300

Genetic Mutation in Thrombophilic Egyptian Patients  

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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; Hesham Gamal El Din; Mona Abd El Kader Awad; Hesham Abou Aisha

2006-01-01

 
 
 
 
301

Intracranial steno-occlusive arterial disease and its associations in Egyptian ischemic stroke patients.  

UK PubMed Central (United Kingdom)

BACKGROUND AND PURPOSE: Intracranial arterial steno-occlusive disease is prevalent among non-white populations. We explored whether a similar pattern exists in Egyptians and assessed its clinical-radiological associations. METHODS: Consecutive acute ischemic stroke patients were recruited for 6 months and had magnetic resonance imaging/magnetic resonance angiography of brain within 2 days of the event. Magnetic resonance angiography was analyzed for significant stenosis (>50%), flow gaps, and complete occlusions in the major intracranial arteries. RESULTS: A total of 143 patients completed the study (62.4 ± 12.6 years, 58.7% males). Magnetic resonance angiography showed symptomatic arterial stenosis in 27.3%, asymptomatic stenosis in 16.1%, and occlusions in 23.7% patients. Carotid duplex showed stenosis >70% in only 7.7% patients. Patients with intracranial arterial steno-occlusive disease had higher National Institutes of Health Stroke Score at admission (10.9 ± 7 versus 8 ± 5.6; P=0.01). CONCLUSIONS: Symptomatic and asymptomatic intracranial arterial steno-occlusive disease was prevalent in this Egyptian acute stroke sample. This might have important implications on stroke management in this population.

Moustafa RR; Moneim AA; Salem HH; Shalash AS; Azmy HA

2013-02-01

302

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

303

Engel Series and Cohen-Egyptian Fraction Expansions  

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Full Text Available Two kinds of series representations, referred to as the Engel series and the Cohen-Egyptian fraction expansions, of elements in two different fields, namely, the real number and the discrete-valued non-archimedean fields are constructed. Both representations are shown to be identical in all cases except the case of real rational numbers.

Vichian Laohakosol; Tuangrat Chaichana; Jittinart Rattanamoong; Narakorn Rompurk Kanasri

2009-01-01

304

Hepatitis-B Markers In Sera Of Egyptian Hepatoma Patients ?????? ???????? ?????? ??????? (?) ?? ??? ???? ????? ????? ???????  

Digital Repository Infrastructure Vision for European Research (DRIVER)

The present study was performed on 52 hepatoma patients; 46 of them were of the histopathological type known as hepatic cell carcinoma (HCC), aiming to investigate the possible role of hepatitis B viral (HBV) infection in the etiology of hepatoma; among Egyptians, with special reference to hepatocel...

El Asser, A. A. [??? ?????? ??????

305

Evaluation of genetic diversity and conservation priorities for Egyptian chickens  

Digital Repository Infrastructure Vision for European Research (DRIVER)

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 population...

Sherif Ramadan; Boniface B. Kayang; Eiji Inoue; Keijiro Nirasawa; Hiroshi Hayakawa; Shin’ichi Ito; Miho Inoue-Murayama

306

Atherosclerotic cardiovascular disease in Egyptian women: 1570 BCE-2011 CE.  

UK PubMed Central (United Kingdom)

BACKGROUND: Atherosclerotic cardiovascular disease is often thought of as a disease of modernity, a disease affecting primarily men and a disease primarily affecting members of affluent Western societies. METHODS: We reviewed CT scans for evidence of vascular calcification as a manifestation of atherosclerosis in ancient Egyptian female mummies and compared the results to clinical features of contemporary Egyptian women, who are suffering from an epidemic of atherosclerotic cardiovascular disease. RESULTS: The common assumption that atherosclerosis is strictly a modern disease which spares women, mainly affecting men, is not true. We report the CT examination of an ancient Egyptian woman who lived more than 3000 years ago, finding calcified atherosclerotic plaque in her systemic arteries and other abnormalities probably due to prior myocardial infarction. We also confirmed recent reports of a virtual epidemic of atherosclerotic cardiovascular disease in contemporary Egyptian women. CONCLUSIONS: Atherosclerosis, both ancient and contemporary, is common in women as well as in men, and is related to both a genetic predisposition and to environmental factors including diet, exercise, obesity and exposure to smoke and other toxins.

Abdelfattah A; Allam AH; Wann S; Thompson RC; Abdel-Maksoud G; Badr I; Amer HA; el-Din Ael-H; Finch CE; Miyamoto MI; Sutherland L; Sutherland JD; Thomas GS

2013-07-01

307

Civil Society in Egypt : Represented by two Egyptian newspapers  

Digital Repository Infrastructure Vision for European Research (DRIVER)

The Egyptian civil society operates under a number of formal restrictions and the government’s repressive policy has held back the emergence of autonomous organisations and made them lose their power and impact. Nevertheless, civil society organisations in Egypt have grown in number, scope of activi...

El Masry, Sophia

308

Early Hepatic Complication in First Year after Bone Marrow Transplantation in Major Beta Thalassemic Patients  

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Full Text Available Introduction: Bone marrow transplantation is a good therapeutic modality for beta thalassemia. Liver complications are one of the major causes of morbidity and mortality following BMT. Determination of the factors of liver injury leads to earlier diagnosis after BMT and improves prognosis. Method: We studied 113 major Beta thalassemic patients who have been transplanted from 1990- 2000 in bone marrow transplantation center of Shariati Hospital. 62 were male and 51 were female. 27 pa¬tients were class one, 56 were class two and 30 were class three. The median age of each class were 6.5, 6.3 and 8.7. Conditioning regimen consisted of busulfan (3.5-4mg/Kg) and cyclophophamide (40-50mg/Kg).For GVHD prophylaxis we gave cyclosporine ± metothoroxate. Grade of liver fibrosis de¬fined by biopsy in all patients before BMT. All patients and their donors tested for HBSAg, HBSAb, HCVAb, CMVAb with RIA method. We assessed causes of liver dysfunction before and after trans¬plantation and effect of high ferritin level on liver function."nResults: Hepatic dysfunction in first year after transplantation was seen in 86 (76%) patients. Causes of liver dysfunction were consisted of 53.1% GVHD, 15.93% cyclosporine hepatotoxicity, 7.07% condi¬tioning regimen hepatotoxicity and VOD. In all three classes hepatic GVHD, cyclosporine toxicity, death and normal liver function post BMT had significant relation with hepatic dysfunction before BMT (P=0.001). In patients with ferritin level more than 1000, there were significant hepatotoxicity with conditioning regimen (P=0.001). 17 (15.04%) of patients have been died. Discussion: According to our study hepatic GVHD (%53.1) is the most common cause of hepatic dys¬function in all three classes.

Iravani M; Arshy M; Toutounchi M; Nedaeifard L; Ghavamzadeh A

2005-01-01

309

Assessment of Hepatic and Pancreatic Iron Overload in Pediatric Beta-Thalassemic Major Patients by T2* Weighted Gradient Echo Magnetic Resonance Imaging  

Science.gov (United States)

Background. MRI has emerged for the noninvasive assessment of iron overload in various tissues. The aim of this paper is to evaluate hepatic and pancreatic iron overload by T2? weighted gradient echo MRI in young beta-thalassemia major patients and to correlate it with glucose disturbance and postsplenectomy status. Subjects and Methods. 50 thalassemic patients, in addition to 15 healthy controls. All patients underwent clinical assessment and laboratory investigations. Out of 50 thalassemic patients, 37 patients were splenectomized. MRI was performed for all subjects. Results. All patients showed significant reduction in the signal intensity of the liver and the pancreas on T2?GRD compared to controls, thalassemic patients who had abnormal glucose tolerance; diabetic and impaired glucose tolerance patients displayed a higher degree of pancreatic and hepatic siderosis and more T2? drop in their signal intensity than those with normal blood sugar level. Splenectomized thalassemic patients had significantly lower signal intensity of the liver and pancreas compared to nonsplenectomized patients. Conclusion. T2? gradient echo MRI is noninvasive highly sensitive method in assessing hepatic and pancreatic iron overload in thalassemic patients, more evident in patients with abnormal glucose tolerance, and is accelerated in thalassemic splenectomized patients.

Youssef, Doaa Mohammed; Fawzy Mohammad, Faten; Ahmed Fathy, Ayman; Aly Abdelbasset, Maha

2013-01-01

310

Striking presence of Egyptian blue identified in a painting by Giovanni Battista Benvenuto from 1524.  

UK PubMed Central (United Kingdom)

Egyptian blue has been identified in a painting from 1524 by the Italian artist Ortolano Ferrarese (Giovanni Battista Benvenuto). Egyptian blue is the oldest known synthetic pigment, invented by the Egyptians in the fourth dynasty (2613-2494?BC) of the Old Kingdom and extensively used throughout Antiquity. From about 1000?A.D., it disappeared from the historical record and was only reinvented in the late nineteenth and early twentieth century. The discovery of Egyptian blue in Ortolano Ferrarese's painting from 1524 shows that Egyptian blue was in fact available in the period from which it is normally considered not to exist. The identification of Egyptian blue is based on optical microscopy supported by energy-dispersive spectroscopy and visual light photon-induced spectroscopy, and finally confirmed by Raman microspectroscopy.

Bredal-Jørgensen J; Sanyova J; Rask V; Sargent ML; Therkildsen RH

2011-09-01

311

Striking presence of Egyptian blue identified in a painting by Giovanni Battista Benvenuto from 1524.  

Science.gov (United States)

Egyptian blue has been identified in a painting from 1524 by the Italian artist Ortolano Ferrarese (Giovanni Battista Benvenuto). Egyptian blue is the oldest known synthetic pigment, invented by the Egyptians in the fourth dynasty (2613-2494?BC) of the Old Kingdom and extensively used throughout Antiquity. From about 1000?A.D., it disappeared from the historical record and was only reinvented in the late nineteenth and early twentieth century. The discovery of Egyptian blue in Ortolano Ferrarese's painting from 1524 shows that Egyptian blue was in fact available in the period from which it is normally considered not to exist. The identification of Egyptian blue is based on optical microscopy supported by energy-dispersive spectroscopy and visual light photon-induced spectroscopy, and finally confirmed by Raman microspectroscopy. PMID:21678119

Bredal-Jørgensen, Jørn; Sanyova, Jana; Rask, Vibeke; Sargent, Maria Louise; Therkildsen, Rikke Hoberg

2011-06-16

312

Diagnostic Value of Fructosamine and Glycosylated Hemoglobin in Estimating Blood Glucose Level in Diabetic Patients with Thalassemia Major  

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Full Text Available Background and Objective: Diabetes mellitus is one of complications that thalassemia major patients face with. Hence, blood glucose monitoring is of vital importance to these patients. Because of high level of fetal hemoglobin in these patients, the measurement of hemoglobin A1c is not reliable and should be displaced by fructosamine test. Material and Methods: The current descriptive study was carried out on 33 beta-thalassemia major patients afflicted with diabetes mellitus (21 female and 12 male cases). Blood glucose level, fructosamine, hemoglobin A1c, serum ferritin and fetal hemoglobin were measured. Results: Blood glucose levels are 204±103 mg/dL and 221±101 mg/dL (p=0.63); fetal hemoglobin levels are 9%±7% and 13%±9% (p=0.22); serum ferritin levels are 1744±1534 ng/mL and 3253±1773 ng/mL (p=0.96) in female and male patients, respectively. The level of fructosamine (42±124 mmol/L) and glycosylated hemoglobin (8.9%±1.8%) are correlated significantly (r=0.69, p<0.01). Both Hemoglobin A1c (r=0.75, p<0.01) and fructosamine (r=0.54, p<0/01) show a significant correlation with blood glucose level. Conclusion: In diabetic thalassemia major patients with frequent blood transfusion, the level of fructosamine and glycosylated hemoglobin are related significantly, therefore; they can be used alternatively. Keywords: Thalassemia major; Fructosamine; Hemoglobin A1c; Diabetes Mellitus

Kosaryan, M. (MD); Mahdavi, MR. (MD); Aliasgharian, A. (BSc); Mousavi, M. (MD); Roshan, P. (MSc)

2013-01-01

313

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

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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

2009-01-01

314

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

1999-01-01

315

The Egyptian Revolution: First Impressions from the Field  

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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

2011-01-01

316

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

317

The Suitability of Some Egyptian Smectitic Clays for Mud Therapy  

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Full Text Available The present study was carried out to assess the suitability of smectitic clays from Fayum, G. Hamza and G. Um Qamar, Egypt, for application in mud therapy. The textural, mineralogical and chemical composition of the Egyptian claystones showed that they are comparable to those of muds used in pelotherapy in several other countries (for example, Italy, Spain, Turkey and Portugal). The Egyptian claystones have good heat capacities and their pastes can be applied in different treatments. The trace elements present in the claystones, namely, As, Pb, Cu, Zn, Co, Ni and Cr are within the normal ranges of average natural mud and shale and they are of no significant concern for human health in mud applications.

E. El-Hinnawi; S.D. Abayazeed

2012-01-01

318

Sex identification from fingertip features in Egyptian population.  

Science.gov (United States)

Identification of an individual plays a vital part of any medico-legal investigation. Fingerprints are considered to be one of the most reliable methods of identification. The present study was conducted on 752 healthy adult Egyptian subjects (380 males and 372 females) with age ranged from 20 to 30 years. Consents were obtained from all participants and their 10 digits were photographed to determine the sexual dimorphism by some fingertip features (ridge count, square area, finger breadth and finally ridge density) in Egyptians. Statistical analysis was made using a multivariate logistic regression variation analyses. Results showed that females tend to have statistically significant shorter (narrower) finger breadth (right: male > 9.54 ? female, left: male > 9.38 ? female), smaller square area (right: male ? 16.1 > female, left: male > 15.1 ? female), more ridge count (right: female > 21.0 ? male, left: female > 21.2 ? male), and higher ridge density (right: female >1.35 ? male, left: female > 1.5 ? male) when compared with males. The ridge density of the left hand was the most single accurate parameter in correct sex determination. The best classification accuracy of 82% was generated upon combining ridge count, square area and ridge density. It was concluded that fingertip features of Egyptians can be used by medico-legal experts for accurate sex identification. PMID:23217375

Eshak, Ghada Attia; Zaher, Jaklin Fekri; Hasan, Eman Ismail; El-Azeem Ewis, Ashraf Abd

2012-05-20

319

Physical inactivity among Egyptian and Saudi medical students  

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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; Ragaa El-Masry

2011-01-01

320

Evaluation of genetic diversity and conservation priorities for Egyptian chickens  

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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.

Sherif Ramadan; Boniface B. Kayang; Eiji Inoue; Keijiro Nirasawa; Hiroshi Hayakawa; Shin’ichi Ito; Miho Inoue-Murayama

2012-01-01

 
 
 
 
321

Sex identification from fingertip features in Egyptian population.  

UK PubMed Central (United Kingdom)

Identification of an individual plays a vital part of any medico-legal investigation. Fingerprints are considered to be one of the most reliable methods of identification. The present study was conducted on 752 healthy adult Egyptian subjects (380 males and 372 females) with age ranged from 20 to 30 years. Consents were obtained from all participants and their 10 digits were photographed to determine the sexual dimorphism by some fingertip features (ridge count, square area, finger breadth and finally ridge density) in Egyptians. Statistical analysis was made using a multivariate logistic regression variation analyses. Results showed that females tend to have statistically significant shorter (narrower) finger breadth (right: male > 9.54 ? female, left: male > 9.38 ? female), smaller square area (right: male ? 16.1 > female, left: male > 15.1 ? female), more ridge count (right: female > 21.0 ? male, left: female > 21.2 ? male), and higher ridge density (right: female >1.35 ? male, left: female > 1.5 ? male) when compared with males. The ridge density of the left hand was the most single accurate parameter in correct sex determination. The best classification accuracy of 82% was generated upon combining ridge count, square area and ridge density. It was concluded that fingertip features of Egyptians can be used by medico-legal experts for accurate sex identification.

Eshak GA; Zaher JF; Hasan EI; El-Azeem Ewis AA

2013-01-01

322

Egyptian Red Sea petroleum geology and regional geophysical evaluation  

Energy Technology Data Exchange (ETDEWEB)

The World Bank-executed Red Sea/Gulf of Aden Regional Hydrocarbon Study Project was organized to synthesize data on the Red Sea and Gulf of Aden basins. The primary objectives were to encourage increased hydrocarbon exploration techniques basin wide, and to train national geoscientists in exploration techniques. The study was carried out be task forces for each participating country, working in Cairo under the supervision of World Bank technical personnel. In addition, biostratigraphic, paleoenvironmental, and lithostratigraphic analyses by Robertson Group and geochemical studies and BEICIP were carried out on well cuttings and core samples. The study of the Egyptian Red Sea was based on public-domain exploration data, published information, and data released by operating companies. This included reports, sections, and wireline logs from 13 well, samples from ten wells for biostratigraphic analysis, and samples from eight wells for geochemical analysis. Interpretation was carried out on 4,350 line-km of seismic data selected from a grid of 19,000 line-km of data. Four horizons were identified on a regional basis, including the sea floor, top, and near base of middle to upper Miocene evaporites, and approximate acoustic basement. The results show that the Egyptian Red Sea is similar to the better known, productive Gulf of Suez in many respects, including overall tectonic evolution and structural style, present geothermal gradients, and Miocene to Holocene stratigraphic sequence. Based in part on this similarity, the Egyptian Red Sea appears to contain the necessary elements for an attractive petroleum potential.

Ahmed, Y.H.; Shalaan, A.A.; Zaki, H.A. (Egyptian General Petroleum Corp., Cairo (Egypt))

1991-08-01

323

Paleoradiology: advanced CT in the evaluation of nine Egyptian mummies.  

UK PubMed Central (United Kingdom)

Axial thin-collimation state-of-the-art spiral computed tomography (CT) was combined with sagittal and coronal reformatting, three-dimensional (3D) reconstruction, and virtual "fly-through" techniques to nondestructively study nine Egyptian mummies. These techniques provided important paleopathologic and historical information about mummification techniques, depicted anatomy in the most informative imaging plane, illustrated the soft-tissue preservation and physical appearance of mummies in superb detail, and generated an intriguing virtual tour through hollow mummified remains without harming the specimens themselves. Images generated with these methods can help archaeologists and Egyptologists understand these fascinating members of mankind and can serve as adjunct visual aids for laypersons who are interested in mummies. CT has emerged as the imaging modality of choice for the examination of Egyptian mummies due to its noninvasive cross-sectional nature and inherently superior contrast and spatial resolution. As multi-detector row CT and postprocessing tools evolve, the capabilities and applications of CT will continue to proliferate, attesting to the expanded versatility and utility of CT as a noninvasive research tool in the multidisciplinary study of Egyptian mummies.

Hoffman H; Torres WE; Ernst RD

2002-03-01

324

Hepatitis C virus genotype distribution in Egyptian diabetic patients: a preliminary study.  

UK PubMed Central (United Kingdom)

BACKGROUND AND STUDY AIMS: There is controversy regarding whether a specific hepatitis C virus (HCV) genotype is associated with diabetes mellitus. This study aimed to investigate HCV genotype distribution in diabetics and its relation to some clinical and laboratory variables in HCV-positive diabetic versus non-diabetic Egyptians in East Delta. PATIENTS AND METHODS: The study included 100 HCV-positive patients of which 66 were diabetic in addition to 35 healthy adults as a control group. Clinical assessment, laboratory measurements of plasma glucose, insulin, C-peptide, C-reactive protein (CRP), tumour necrosis factor-? (TNF-?) and liver functions (alanine aminotransferase (ALT), aspartate aminotransferase (AST) and gamma-glutamyltransferase (GGT)) as well as HCV genotype determination were done, and AST/platelet ratio index (APRI) and Homoeostasis Model of Assessment-Insulin Resistance (HOMA-IR) were calculated. RESULTS: The main results were the presence of HCV genotype 3, in 31.8% of the diabetic group and in 26.5% of the non-diabetic group, while the remainder of cases had genotype 4, the predominant genotype in Egypt. This is the first report of the presence of HCV genotype 3 in about 30% of an Egyptian cohort. However, there was no significant difference in genotype distribution between both groups. Further, there were significantly higher values of HOMA-IR, insulin and C-peptide in HCV-positive groups in comparison to the control group, while TNF-? was significantly higher in the HCV-positive diabetic group. However, there were no significant differences between both genotypes regarding these parameters. CONCLUSION: Although this study reveals for the first time the presence of HCV genotype 3 in a significant percentage of a group of Egyptian patients, where the majority were diabetic, the association between diabetes and certain HCV genotypes could not be confirmed on the basis of our findings. Hence, taking into consideration the impact of such a finding on the treatment decisions of those patients, further studies are warranted to explore these findings to a greater extent.

Saleh O; Baiomy AA; El-desouky A; Zaghloul H; El-Arman M; Dahab GM; Abdel-Rahman MS

2013-03-01

325

Antibody levels against hepatitis B virus after hepatitis B vaccination in Egyptian diabetic children and adolescents.  

UK PubMed Central (United Kingdom)

Background The remarkable effectiveness of universal infantile hepatitis B (HB) vaccination is well documented in many countries. Nevertheless, the influence of insulin-dependent diabetes mellitus (IDDM) on the sero-protective level of antibody to hepatitis B surface antigen (anti-HBs) after HB vaccination has not been investigated in Egyptian children. The aim of this study was to investigate long-term anti-HBs sero-protective levels after infantile HB vaccination in Egyptian IDDM children. Results The mean age of the healthy children was 10.86 ± 1.21 y (range, 5.5-15 y); 49 (45.8%) were boys and 58 (54.2%) were girls. The mean age of the IDDM children was 10.29 ± 3.04 y (range, 4-17 y); 32 (50.8%) were boys and 31 (49.2%) were girls. There were no significant differences between the healthy and IDDM children with respect to age and sex (p > 0.05). Among the 107 healthy children, 43 (40%) did not have a protective anti-HBs level (anti-HBs < 10 IU/L) and 64 (60%) had a protective level (anti-HBs ? 10 IU/L). In contrast, among the IDDM children, 44 (69.8%) and 19 (30.2%) did not and did have protective anti-HBs levels, respectively. This difference in anti-HBs concentration between healthy and diabetic children was highly significant (p < 0.001). None of the vaccinated healthy or IDDM children was reactive to HBsAg or total anti-HBc. Patients and Methods A total of 170 children (81 boys, 89 girls) who had been routinely vaccinated against HB were included. Their mean age was 10 ± 2.1 y. The enrolled children were divided into healthy (n = 107) and IDDM (n = 63) cohorts. Body Mass Index and levels of hepatitis B surface antigen (HBsAg), total antibody to hepatitis B core antigen (anti-HBc), and anti-HBs were evaluated in all children. In addition, the duration of diabetes mellitus (DM) and levels of glycated hemoglobin (HbA1c) were measured in IDDM children. Conclusion Our results are alarming. It appears that the majority of Egyptian diabetic children vaccinated against HB may not have sufficient anti-HBs levels to protect them from HB. Moreover, this study emphasizes the need for a population-based strategy for the management of patients without an anti-HBs protective level after HB vaccination and justifies the need to elucidate the heritability of those children.

Elrashidy H; Elbahrawy A; El-Didamony G; Mostafa M; George NM; Elwassif A; Saeid Mohamed AG; Elmestikawy A; Morsy MH; Hashim A; Abdelbasseer MA

2013-06-01

326

A cross-cultural study of personality: egyptian and english children.  

UK PubMed Central (United Kingdom)

679 Egyptian boys and 696 girls completed the Junior Eysenck Personality Questionnaire, translated into Arabic. Factor comparisons were moderately high for extraversion and social desirability but weak for neuroticism and psychoticism. Suitable item substitution produced a scoring key resulting in adequate reliabilities with the exception of a somewhat low reliability for the boys on extraversion and low reliabilities on psychoticism for both sexes. Sex differences on means of the dimensions were as usual, boys scoring higher than girls on extraversion and psychoticism, but lower on neuroticism and social desirability. Moreover, on comparing Egyptian with English means, using scales of items in common only, the English boys and girls scored higher than their Egyptian counterparts on extraversion but significantly lower on social desirability. British boys scored higher on psychoticism than did Egyptian boys but British girls scored lower than Egyptian girls.

Eysenck SB; Abdel-Khalek AM

1989-01-01

327

A cross-cultural study of personality: egyptian and english children.  

Science.gov (United States)

679 Egyptian boys and 696 girls completed the Junior Eysenck Personality Questionnaire, translated into Arabic. Factor comparisons were moderately high for extraversion and social desirability but weak for neuroticism and psychoticism. Suitable item substitution produced a scoring key resulting in adequate reliabilities with the exception of a somewhat low reliability for the boys on extraversion and low reliabilities on psychoticism for both sexes. Sex differences on means of the dimensions were as usual, boys scoring higher than girls on extraversion and psychoticism, but lower on neuroticism and social desirability. Moreover, on comparing Egyptian with English means, using scales of items in common only, the English boys and girls scored higher than their Egyptian counterparts on extraversion but significantly lower on social desirability. British boys scored higher on psychoticism than did Egyptian boys but British girls scored lower than Egyptian girls. PMID:23336758

Eysenck, S B; Abdel-Khalek, A M

1989-01-01

328

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

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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

2011-01-01

329

The impact of vascular risk factors multiplicity on severity of carotid atherosclerosis—A retrospective analysis of 1969 Egyptian subjects  

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Full Text Available Background and Purpose: Carotid atherosclerosis has been recognized as a major cause of stroke. The cur-rent study aimed to describe the effect of multiplicity rather than the type of vascular risk factors on severity of carotid atherosclerosis among a large sample of Egyptian population. Methods: We analyzed the data of 1969 Egyptian subjects, who proved to have extra cranial carotid atherosclerotic disease by duplex scanning at the vascular laboratories of Cairo Uni-versity Hospitals. Demographic, clinical data and causes of referral were recorded and correlated with ultrasound findings. Atherosclerotic indices, namely IMT, plaque number and percentage of stenosis were used for evaluation of severity of carotid atherosclerosis. Furthermore, subjects were classified according to multiplicity of major atherosclerotic risk factors and multivariate regression analysis was performed to detect independent predictors of significant carotid disease. Results: Out of 1969 subjects with proved signs of extracranial carotid atherosclerosis by duplex ultrasonographic scan, 225 (11.4%) showed hemody-namic significant stenosis (?50%). Multiplicity of risk factors beyond the age of 50 years was the strongest predictor of significant stenosis. Conclusion: Age more than 50 years and multiplicity rather than the type of risk factors were the strongest predictors of significant carotid atherosclerotic disease (CAD).

Essam Baligh; Foad Abd-Allah; Reham Mohammed Shamloul; Ehab Shaker; Hani Shebly; Mohamed Abdel-Ghany

2013-01-01

330

Factors affecting warfarin dose requirements and quality of anticoagulation in adult Egyptian patients: role of gene polymorphism.  

UK PubMed Central (United Kingdom)

BACKGROUND: Warfarin is the mainstay of anticoagulation therapy worldwide. CYP2C9 and VKORC1 are two major genetic factors associated with inter-individual and inter-ethnic variability in the warfarin dose. AIM: This study aims to assess the impact of VKORC1-1639G>A polymorphism and the most common CYP2C9 variant alleles (*2 and *3) on warfarin response in Egyptian patients. METHODS: Genetic analysis of VKORC1-1639G>A and CYP2C9*2, CYP2C9*3 was performed using real-time PCR system. Patients maintained on a constant dose targeting an international normalized ratio range of 2-3.5 for at least three consecutive times were considered as good candidates. A stepwise linear regression analysis was used to determine the independent effects of genetic and non-genetic factors on daily warfarin dose requirements. RESULTS: Patients carrying VKORC1 and CYP2C9 variant genotypes needed a 44.8 % lower mean daily warfarin dose as compared to wild types. Patients with G allele for VKORC1-1639G>A had a significantly higher number of thromboembolic complications per month during therapy. On the first 30 days of therapy, presence of a variant allele either in VKORC1 or in CYP2C9 was associated with increased time required to achieve stable dosing. Multiple regression analysis showed that, VKORC1-1639G>A, age, CYP2C9*3, and smoking status explained 43.4 % of the overall variability in the warfarin dose. CONCLUSION: VKORC1-1639G>A and CYP2C9 polymorphisms contribute to the difference in warfarin dose requirements and quality of anticoagulation amongst Egyptian patients. Study results support using personalized warfarin treatment in Egyptian patients.

Bazan NS; Sabry NA; Rizk A; Mokhtar S; Badary OA

2013-06-01

331

Atherosclerosis in ancient Egyptian mummies: the Horus study.  

UK PubMed Central (United Kingdom)

OBJECTIVES: The purpose of this study was to determine whether ancient Egyptians had atherosclerosis. BACKGROUND: The worldwide burden of atherosclerotic disease continues to rise and parallels the spread of diet, lifestyles, and environmental risk factors associated with the developed world. It is tempting to conclude that atherosclerotic cardiovascular disease is exclusively a disease of modern society and did not affect our ancient ancestors. METHODS: We performed whole body, multislice computed tomography scanning on 52 ancient Egyptian mummies from the Middle Kingdom to the Greco-Roman period to identify cardiovascular structures and arterial calcifications. We interpreted images by consensus reading of 7 imaging physicians, and collected demographic data from historical and museum records. We estimated age at the time of death from the computed tomography skeletal evaluation. RESULTS: Forty-four of 52 mummies had identifiable cardiovascular (CV) structures, and 20 of these had either definite atherosclerosis (defined as calcification within the wall of an identifiable artery, n = 12) or probable atherosclerosis (defined as calcifications along the expected course of an artery, n = 8). Calcifications were found in the aorta as well as the coronary, carotid, iliac, femoral, and peripheral leg arteries. The 20 mummies with definite or probable atherosclerosis were older at time of death (mean age 45.1 ± 9.2 years) than the mummies with CV tissue but no atherosclerosis (mean age 34.5 ± 11.8 years, p < 0.002). Two mummies had evidence of severe arterial atherosclerosis with calcifications in virtually every arterial bed. Definite coronary atherosclerosis was present in 2 mummies, including a princess who lived between 1550 and 1580 BCE. This finding represents the earliest documentation of coronary atherosclerosis in a human. Definite or probable atherosclerosis was present in mummies who lived during virtually every era of ancient Egypt represented in this study, a time span of >2,000 years. CONCLUSIONS: Atherosclerosis is commonplace in mummified ancient Egyptians.

Allam AH; Thompson RC; Wann LS; Miyamoto MI; Nur El-Din Ael-H; El-Maksoud GA; Al-Tohamy Soliman M; Badr I; El-Rahman Amer HA; Sutherland ML; Sutherland JD; Thomas GS

2011-04-01

332

Characteristics of hepatitis viruses among Egyptian children with acute hepatitis.  

UK PubMed Central (United Kingdom)

Hepatitis viral infection is hyperendemic in Egypt, western Asia and Africa. However, little is known about the status of hepatitis viruses among rural Egyptian children. Therefore, this study sought to examine the prevalence and characteristics of hepatitis viruses among symptomatic Egyptian children. Serological and molecular analyses of hepatitis viral infection were conducted in 33 children hospitalised at Mansoura University with symptomatic hepatic dysfunction (mean ± standard deviation age, 9.7±3.4 years; alanine aminotransferase level, 130±68 IU/ml). Eleven children (33%) were positive for anti-haemagglutination-IgM and were diagnosed with acute hepatitis A. Hepatitis B surface antigen (HBsAg) and anti?hepatitis C virus (HCV) were detected in 9 (27%) and 7 (21%) children, respectively, indicating acute-on-chronic infection with hepatitis viruses. None of the children was positive for anti?hepatitis B core antigen-IgM. Phylogenetic analysis confirmed that all HBVs belonged to genotype D (subgenotype D1) and that HCV belonged to genotypes 4a and 1g. HBV-DNA was detected in 9 children (27%) in the pre-S/S region and in 16 children (48%) in the core promoter/precore region. The Y134F amino acid mutation in the '?' determinant region was detected in all of the patients. The A1762T/G1764A double mutation, and the T1846A and G1896A single mutations were common in children with occult HBV infection. In conclusion, hepatitis viral infection, including acute-on-chronic infection with HCV and HBV, is common in Egyptian children hospitalised with acute hepatitis.

Youssef A; Yano Y; El-Sayed Zaki M; Utsumi T; Hayashi Y

2013-04-01

333

An EPR study on ancient and newly synthesised Egyptian blue.  

UK PubMed Central (United Kingdom)

Two sets of ancient Roman Egyptian blue (EB) samples and one set of EB samples synthesised in our lab, were analysed by EPR spectroscopy, a technique not commonly used in this field. The spectroscopic parameters obtained were used to attempt the discrimination of the provenance and of the manufacturing techniques of the investigated samples. The results obtained show that EPR technique could be very useful for this purpose. Furthermore, the similarity of the obtained parameters between the ancient and new samples testify the successful attempt to reproduce the EB according to the chemical knowledge.

Orsega EF; Agnoli F; Mazzocchin GA

2006-01-01

334

An EPR study on ancient and newly synthesised Egyptian blue.  

Science.gov (United States)

Two sets of ancient Roman Egyptian blue (EB) samples and one set of EB samples synthesised in our lab, were analysed by EPR spectroscopy, a technique not commonly used in this field. The spectroscopic parameters obtained were used to attempt the discrimination of the provenance and of the manufacturing techniques of the investigated samples. The results obtained show that EPR technique could be very useful for this purpose. Furthermore, the similarity of the obtained parameters between the ancient and new samples testify the successful attempt to reproduce the EB according to the chemical knowledge. PMID:18970397

Orsega, Emilio F; Agnoli, F; Mazzocchin, G A

2005-08-01

335

Passive and active measurements of Egyptian monazite samples.  

UK PubMed Central (United Kingdom)

Five samples of Egyptian monazite from beach black sand at Abou Khashba near Rosetta, North Egypt were separated in the laboratories of the nuclear materials authority of Egypt. Neutron activation analysis has been used to determine the elemental content of monazite samples. Twelve elements Sc, Cr, Fe, Co, Zn, Cs, La, Eu, Sm, Hf, Pa and Np are observed and the concentrations of these elements have been calculated. Using passive measurements natural radioactivity has also been determined in Bq/kg for the investigated monazite samples. Th and U concentrations from both passive and active measurements are in agreement. Some of the observed elements have a high economic value.

Sroor A

2003-02-01

336

Mitochondrial Mutation In Egyptian Patients With Type 2 Diabetes Mellitus  

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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

2006-01-01

337

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

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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

2011-01-01

338

Comparison of arch forms between Egyptian and North American white populations.  

UK PubMed Central (United Kingdom)

INTRODUCTION: The aim of this study was to evaluate the morphologic differences in the mandibular arches of Egyptian and North American white subjects. METHODS: The sample included 94 Egyptian subjects (35 Class I, 32 Class II, and 27 Class III) and 92 white subjects (37 Class I, 29 Class II, and 26 Class III). The subjects were grouped according to arch form types (tapered, ovoid, and square) to compare their frequency distribution between ethnic groups in each Angle classification. The most facial portions of 13 proximal contact areas were digitized on scanned images of mandibular casts to estimate the corresponding clinical bracket point for each tooth. Four linear and 2 proportional measurements were taken. RESULTS: In comparing arch dimensions, intermolar width was narrower in Egyptians than in the whites (P = 0.001). There was an even frequency distribution of the 3 arch forms in the Egyptian group. On the other hand, the most frequent arch form was ovoid followed by tapered and square in the white group; the square arch form was significantly less frequent than the tapered and ovoid arch forms (P = 0.029). CONCLUSIONS: The arch forms of Egyptians are narrower than those of whites. The distribution of the arch form types in Egyptians showed similar frequency, but the square arch form was less frequent in whites. It is recommended to select narrower archwires from the available variations to suit many Egyptian patients.

Bayome M; Sameshima GT; Kim Y; Nojima K; Baek SH; Kook YA

2011-03-01

339

Population genetic study of diabetes and diabetic retinopathy among Egyptians.  

UK PubMed Central (United Kingdom)

OBJECTIVES: To clarify the population genetic background of diabetes mellitus among Egyptians and its effect on developing diabetic retinopathy (DR). BACKGROUND: Genes play an important role in the development of diabetes mellitus. METHODS: A statistical study was carried on 214 patients with diabetes mellitus after clinical genetic evaluation including medical and family history, family pedigree analysis, and determination of blood sugar, cholesterol and triglycerides levels. Ophthalmic examination was done to detect diabetic retinopathy. RESULTS: Family history of diabetes was higher in type I while parental consanguinity was higher in type II. Type I diabetics had positive familial aggregation with sharp falling in frequency of affection from the first to the second to the third degree relatives. Type II diabetes is generally a disease of multifactorial inheritance and AD inheritance in part of pedigrees; however AR inheritance could not be excluded. Family history of DR was higher among diabetic patients with DR than in patients without retinopathy (p < 0.05). Female gender, type I diabetes, duration of diabetes, triglycerides and positive family history of diabetic retinopathy were predictive risk factors for DR. CONCLUSION: Genetic factors play an important role in various forms of DM, however the inheritance is complex. Although most cases of DM are multifactorial disorders, monogenic forms have been also identified. Family history is an important risk factor for the development of DR. Molecular studies are recommended to detect which of the implicated genes are responsible for the development of DR among diabetic Egyptians (Tab. 4, Fig. 1, Ref. 18).

El Ela MH; Azeem AA; Elbastawisy HI; Osman ZM

2012-01-01

340

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)

1999-01-01

 
 
 
 
341

Antidiabetic effects of a standardized Egyptian rice bran extract.  

UK PubMed Central (United Kingdom)

An extract was prepared from Egyptian stabilized rice bran and standardized to contain 2% ?-oryzanol in addition to its content of other bioactives, notably tocotrienol and policosanol. The standardized extract was found to have a concentration-dependent effect on insulin release in vitro, which, however, is not mediated by ?-tocotrienol in rice bran (detected by HPLC) as could have been expected. Policosanol and ?-oryzanol have insulinotropic effects. The in vitro data of rice bran directly translate into in vivo data of rats by using a glucose tolerance test (increase in plasma insulin). Tocotrienols are well known for their apoptotic effect on tumor cells; nevertheless, an attempt was made to study glucose uptake in HEP-G2 cells, which needs to induce an insulin-resistant state by TNF-?. The Egyptian rice bran extract has an antidiabetic effect. ?-Oryzanol, which is a possible precursor of the insulinotropic compound ferulic acid, is a candidate for this effect. Therefore, it is reasonable to assume that the prevalence of diabetes or at least a prediabetic (type 2) situation can be ameliorated by the investigated rice bran extract. The potential usefulness of the extract as a nutraceutical is currently undergoing more thorough investigations.

Kaup RM; Khayyal MT; Verspohl EJ

2013-02-01

342

Association between PM?? exposure and sleep of Egyptian school children.  

UK PubMed Central (United Kingdom)

PURPOSE: This study aims to investigate the potential association between exposure to particulate matter with an aerodynamic diameter <10 ?m (PM10) and sleep disturbances among Egyptian school children. METHODS: In this cross-sectional study, parents of school children from four elementary schools in areas with different PM10 exposures filled out the Sleep Disturbance Scale for Children questionnaire in Arabic. Air pollution data were obtained from the Egyptian Environmental Affairs Agency. RESULTS: The sample consisted of 276 children, 121 (44 %) of them were boys with a mean age of 9.26?±?1.96 years. Disorders of initiating and maintaining sleep (DIMS), disorders of excessive somnolence, and the total score were reported in the clinical range (T score?>?70) in 19.9, 24.3, and 24.3 % of the sample, respectively. A generalized additive model with adjustment for potential confounding factors was used to examine the association between PM10 exposure and sleep disturbances. There were statistically significant associations between PM10 exposure and DIMS and sleep hyperhidrosis (P?

Abou-Khadra MK

2013-05-01

343

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.

2005-01-01

344

Environmental education in an Egyptian university: The role of teacher educators  

Science.gov (United States)

Drawing on a holistic critical paradigm of ecological sustainability, this study examined the role of teacher educators in environmental education in the Faculty of Education of one Egyptian university. The study sought to critically and collaboratively explore with a sample of six teacher educators their answers, perceptions and perspectives in relation to their knowledge and understanding of environmental problems in local/global contexts and their meanings of curriculum and pedagogical practices for fostering environmental education in their teacher education programs. The participants generally demonstrated a considerable amount of knowledge of the environmental realities and problems facing Egypt encompassing air, water and solid waste sectors. Their views concurred with national and official studies identifying these issues as the most pressing environmental problems in the country. The exploration of the institutional, social and cultural causes and developmental and/or global causes of environmental problems in Egypt led us to articulate different themes relating environmental crisis in Egypt to different issues. These issues included poverty, education, religion and development. One of the major findings of the study was the participants' view that development was the major contributor to the environmental crisis in Egypt. They all stressed that, in its pursuit of economic growth, the government did not pay due attention to the environmental costs. Sharing perspectives from a critical paradigm of ecological sustainability, the participants felt that the government needed to clearly address the economic and ecological dimensions of development. In addition, a few participants affirmed that development is the thread that ties all the different factors together bringing into the conversations other dimensions of development like the social, values, and political dimensions. Addressing the future dimension of development, all of them expressed the need for a development model that takes into consideration ecological as well as human well-being concerns. The study also presented an overview of the participants' own definitions for environmental education based on their beliefs and emerging from their practices. It also explored the content and pedagogy of environmental education within the Faculty as well as the participants' own practices and reports on the action research phase of the study. The participants agreed that the environment needs to be viewed holistically that includes human beings in relation to each other as well as to other beings and their surroundings. While they all praised the role of educators, they also acknowledged the force of substantive challenges for promoting a critical paradigm of environmental education within the faculty as well as in the whole education system and Egyptian society in general. A major finding of the study was that the situation of environmental education in Egyptian universities need closer and immediate attention, and much work remains to transform education and adopt a framework that would integrate environmental education into the core of the educational programs of the faculty. (Abstract shortened by UMI.)

Goueli, Solafa

345

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)

2005-01-01

346

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

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Full Text Available 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 significant 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

2013-01-01

347

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

UK PubMed Central (United Kingdom)

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.

Al-Mathal EM; Saleh NM; Morsy TA

2010-04-01

348

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

349

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.)

1973-09-03

350

Defining the cost of the Egyptian lymphatic filariasis elimination programme.  

UK PubMed Central (United Kingdom)

BACKGROUND: Lymphatic filariasis (LF) is targeted for global elimination. LF elimination programmes in different countries, including Egypt, are supported financially by national and international agencies. The national programme in Egypt is based on mass drug administration (MDA) of an annual dose of a combination of 2 drugs (DEC and albendazole) to all endemic villages. This study aimed primarily to estimate the Total and Government costs of two rounds of MDA conducted in Egypt in 2000 and 2001, the average cost per person treated, and the cost share of the different programme partners. METHODS: The Total costs reflect the overall annual costs of the MDA programme, and we defined Government costs as those expenditures made by the Egyptian government to develop, implement and sustain the MDA programmes. We used a generic protocol developed in coordination with the Emory Lymphatic Filariasis Support Center. Our study was concerned with all costs to the government, donors and other implementing parties. Cost data were retrospectively gathered from local, regional and national Ministry of Health and Population records. The total estimates for each governorate were based on data from a representative district for the governorate; these were combined with national programme data for a national estimate. RESULTS: The overall Total and Government costs for treating approximately 1,795,553 individuals living in all endemic villages in the year 2000 were USD 3,181,000 and USD 2,412,000, respectively. In 2001, the number of persons treated increased (29%) and the Total costs were USD 3,109,000 while Government costs were USD 2,331,000. In 2000, the average Total and Government costs per treated subject were USD 1.77 and USD 1.34, respectively, however, these costs decreased to USD 1.34 and USD 1.00, respectively in 2001. The coverage rate was 86.0% in 2000 and it increased to 88.0% in 2001. CONCLUSION: The Egyptian government provided 75.8% of all resources, as reflected in the Total cost estimates, and international agencies contributed the rest. Such data highlight both the commitment of the Egyptian government and the significance of the contributions of international bodies toward the LF elimination programme.

Ramzy RM; Goldman AS; Kamal HA

2005-08-01

351

Characterization of Gamma-Irradiated Egyptian Wheat Flour  

International Nuclear Information System (INIS)

[en] 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

2008-01-01

352

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

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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 (CQI)literature, 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; REFAAT HASSAN ABDEL-RAZEK; ADEL AHMED EL-KORDI; SHAFIK SHAWKY KHOURY

2011-01-01

353

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

2011-01-01

354

Studies on natural radioactivity of some egyptian building materials  

International Nuclear Information System (INIS)

Using high-resolution y-rays spectrometry, the natural radioactivity of 14 samples of natural and o manufactured Egyptian building materials have been investigated. The samples were collected from local market and construction sites. From the measured gamma-ray spectra, specific activities were determined. The radium equivalent activity in each sample was estimated. Radiological evaluations of these materials indicate that all materials meet the external gamma-ray dose limitation. Calculation of concentration indices by assuming a Markkanen room model is constructed from these materials, to find the excess gamma-ray dose taken over that received from the outdoors. The Austrian Standard ONORM S 5200 is used in testing the building materials

2005-01-01

355

Recovery of thorium and uranium from Egyptian monazite sands  

International Nuclear Information System (INIS)

[en] 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

1983-01-01

356

Physico-chemical and mineralogical characteristics of some egyptian soils  

International Nuclear Information System (INIS)

Some soil samples (selected out of 30 samples) were collected from different locations of the egyptian deserts to select cheap natural solid matrices for the corporation of the liquid radioactive wastes. Physical, chemical and mineralogical investigations have been performed on these samples in addition to the cation exchange capacity (CEC) determination. The samples varied in their montmorillonite, kaolinite and quartz contents. The calculated structural formula and the infrared supported the x-ray analysis. The CEC values were found to vary between 9.7 to 46.7 m eq/100 g which is in agreement with the chemical and mineralogical composition and the specific surface area of the samples. 2 fig., 2 tab

1992-01-01

357

Does Facebook Matter in Egyptian Graduate Environment? A Marketing Perspective  

Directory of Open Access Journals (Sweden)

Full Text Available The current study is exploratory, and it aims at uncovering the potential role of Facebook in Egyptian university environment. The research based on 127 questionnaires. It was found that; 42% of the respondents use Facebook for educational purpose; around 85% use Facebook to be in touch with their teachers; more than 75% use Facebook to contact the faculty administration; more than 70% of students are convinced that they have added value when using Facebook in the educational context. These results would support the notion of using Facebook as an untraditional, cheap, interactive means to enhance the quality of the educational service that provided by the college (producer) and received by the student (customer). Implications were presented and suggestion for further studies was highlighted.

Ahmad Yahia Ebeid

2012-01-01

358

Pollination behaviour among different breeding populations of Egyptian clover.  

UK PubMed Central (United Kingdom)

Pollination behaviour and the extent of self-compatibility were studied in Trifolium alexandrinum, commonly known as Berseem or Egyptian clover, an important fodder legume cultivated in Egypt, the Mediterranean basin and the Indian subcontinent. Four treatments were imposed on 16 populations comprising three diploid exotic, three diploid advanced breeding, five induced tetraploid and five diploid pentafoliate lines. The different treatments were open pollination, caging, hand tripping and controlled bee visits. Compared with the open pollinated condition, reduction in seed set in different populations ranged from 12.3 to 99.2% under caged condition. Eight of 16 populations registered more than 90% reduction in seed set. Hand tripping and/or controlled bee visits improved seed set considerably in a few populations, whereas, in one population, no significant effect of these four treatments was observed. The results indicated considerable variation for self-compatibility, together with a requirement of tripping for pollination and seed set, even in self-compatible lines.

Roy AK; Malaviya DR; Kaushal P

2005-04-01

359

Gonadotropins studies in female egyptian subjects under different physiological conditions  

International Nuclear Information System (INIS)

This study is concerned with the role of the hypothalamic hypophyseal regulatory hormonal mechanisms in the control of gonadal secretions in a selected normal egyptian female subjects with varying ages under different physiological conditions. The study allowed precise definition of the modulator influence of a number of key factors triggering appropriate alteration in circulating serum levels of FSH and LH determined by IRMA technique in pre-pubertal female children (9-11), post-pubertal adolescents females (13-16). Adult married females (27-33) and post-menopausal (58-63). The levels of FSH and LH were increased markedly with age but children less than 11 years old had only nocturnal increase in levels of FSH (p.O.I) and LH(P

2002-01-01

360

LAMQS analysis applied to ancient Egyptian bronze coins  

International Nuclear Information System (INIS)

Some Egyptian bronze coins, dated VI-VII sec A.D. are analyzed through different physical techniques in order to compare their composition and morphology and to identify their origin and the type of manufacture. The investigations have been performed by using micro-invasive analysis, such as Laser Ablation and Mass Quadrupole Spectrometry (LAMQS), X-ray Fluorescence (XRF), Laser Induced Breakdown Spectroscopy (LIBS), Electronic (SEM) and Optical Microscopy, Surface Profile Analysis (SPA) and density measurements. Results indicate that the coins have a similar bulk composition but significant differences have been evidenced due to different constituents of the patina, bulk alloy composition, isotopic ratios, density and surface morphology. The results are in agreement with the archaeological expectations, indicating that the coins have been produced in two different Egypt sites: Alexandria and Antinoupolis. A group of fake coins produced in Alexandria in the same historical period is also identified.

2010-05-15

 
 
 
 
361

Fallout Radioactivity in Some Egyptian Lakes Bottom Sediments  

International Nuclear Information System (INIS)

[en] As a part of the Egyptian environmental radioactivity monitoring program, the fallout radioactivity levels in Qarun, Bardawill and Ed ku lakes bottom sediments have been measured. The specific activities of 137Cs were measured using gamma ray spectrometer based on Hyper pure germanium detector. The specific activities of plutonium isotopes(238Pu, 239+240Pu and 241Pu) were measured using alpha spectrometry based on surface battier detectors and liquid scintillation spectrometry after radiochemical separation. The activity ratios 239+240Pu/137Cs, 239+240Pu/241Pu, and 238Pu/ 239+240Pu were calculated. The results seemed to confirm that fallout radioactivity is mainly due to nuclear weapons testing fallout

1999-01-01

362

Thyroid volumes and iodine status in Egyptian South Sinai schoolchildren.  

UK PubMed Central (United Kingdom)

INTRODUCTION: The determination of goitre prevalence in children by ultrasonography is an important tool for considering iodine deficiency disorders. Our objective was to describe measurements of thyroid volumes by ultrasonography in Egyptian South Sinai schoolchildren and compare these with the WHO/International Council for the Control of Iodine Deficiency Disorders normative thyroid volume criteria (WHO/ICCIDD). MATERIAL AND METHODS: Cross-sectional thyroid ultrasonographic data of 719 schoolchildren (339 boys and 380 girls), aged 6-12 years from five cities in South Sinai (El Tur (T), Abu Redis (R), Ras Sudr (S), Saint Katherine (SK), and Nwebaa (N)). Age/sex and body surface area/sex specific upper limits (97(th) percentile) of normal thyroid volume were derived and urinary iodine (UI) was measured. RESULTS: The median value of urinary iodine was 150 µg/l. Comparing WHO/ICCIDD thyroid volume references to Egyptian South Sinai schoolchildren resulted in goitre prevalence of 10.6% using age/sex specific and 13.48% using body surface area/sex specific cut-off values. The prevalence of goitre was 20.0% in S, 16.3% in R, 10.8% in N, 9.9% in T, and 10.5% in SC. Upper limits of normal (97(th) percentile) thyroid volume from South Sinai schoolchildren calculated using BSA, sex, and age were higher than the corresponding WHO/ICCIDD. CONCLUSIONS: Prevalence of goitre is high in South Sinai schoolchildren. The body surface area reference should be preferred to the reference based on age. South Sinai schoolchildren had larger thyroids than WHO/ICCIDD thyroid volumes, perhaps due to hard polluted water with a high fluorine level.

Abd El Naser Yamamah G; Kamel AF; Abd-El Dayem S; Hussein AS; Salama H

2013-06-01

363

Transfusion Transmitted Virus (TTV) Infection in Polytransfused Egyptian Thalassemic Children  

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Full Text Available Transfusion Transmitted Virus (TTV) is a naked, single stranded DNA virus, which has been discovered in the serum of a patient with post-transfusion hepatitis of unknown etiology. TTV infection is widespread in the general population, however, the mode of its transmission is still unclear. This study was conducted to search for TTV-DNA positivity rates and to evaluate its clinical significance in both Egyptian polytransfused thalassemic children and healthy children. Serum samples from 33 polytransfused thalassemic children and 30 healthy children were studied for the presence of TTV-DNA by nested PCR using primer sets generated from the untranslated region (UTR) of the viral genome. TTV-DNA was found positive in 39.4% of polytransfused children versus 40% of healthy children, the high rate of viremia observed in healthy children indicates that transfusion route is not the only mode of TTV spread. 60.6 % of the polytransfused group were HCV positive. Fifty five percent of HCV positive cases showed TTV-DNA positivity, suggesting common route of infection. No significant difference between ALT and AST values in TTV-DNA positive polytransfused children compared to negative cases. ALT and AST values were statistically significantly higher in HCV positive patients compared to negative cases. On the other hand no significant difference was observed of ALT and AST values in isolated HCV infection versus TTV and HCV co-infection. Thus although TTV infection is quite common among Egyptian, no convincing evidence was found to support its involvement in the pathogenesis of hepatitis in children, more data are still needed for a better understanding of the natural history of TTV infection.

N.M. Abdalla; A. Galal; A.A. Fatouh; K. Eid; E.E.E. Salama; H.E. Gomma

2006-01-01

364

Evidence of Increased Hemolysis after Open Heart Surgery in Patients Heterozygous for Beta-Thalassemia  

Science.gov (United States)

To investigate hemolysis after open heart surgery in patients with and without the ?-thalassemia trait, we prospectively studied 85 patients who underwent open heart surgery for various pathologic conditions. Hemoglobin electrophoresis showed that 20 of these patients had the ?-thalassemia trait, whereas the other 65 were normal. To compare the degree of postoperative hemolysis in both groups, we evaluated the serum bilirubin, lactic dehydrogenase, haptoglobin, and plasma hemoglobin levels preoperatively and on the first and second postoperative days. Patients with the ?-thalassemia trait had a significantly greater degree of hemolysis than did those without this trait. Hemolysis was more pronounced on the first postoperative day and was obviously caused by the passage of blood through the heart-lung machine. The degree of hemolysis was not affected by the patient's age or sex, or by the type and duration of the operation. (Texas Heart Institute Journal 1988;15:35-38)

Cokkinou, Vana; Katsiyanni, Anna; Orkopoulou, Mary; Michalis, Alkis; Tolis, George; Cokkinos, Dennis V.

1988-01-01

365

Mithramycin encapsulated in polymeric micelles by microfluidic technology as novel therapeutic protocol for beta-thalassemia  

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Full Text Available Lorenzo Capretto1, Stefania Mazzitelli2, Eleonora Brognara2, Ilaria Lampronti2, Dario Carugo1, Martyn Hill1, Xunli Zhang1, Roberto Gambari2, Claudio Nastruzzi31Engineering Sciences, University of Southampton, Southampton, UK; 2Department of Biochemistry and Molecular Biology, 3Department of Pharmaceutical Sciences, University of Ferrara, Ferrara, ItalyAbstract: This report shows that the DNA-binding drug, mithramycin, can be efficiently encapsulated in polymeric micelles (PM-MTH), based on Pluronic® block copolymers, by a new microfluidic approach. The effect of different production parameters has been investigated for their effect on PM-MTH characteristics. The compared analysis of PM-MTH produced by microfluidic and conventional bulk mixing procedures revealed that microfluidics provides a useful platform for the production of PM-MTH with improved controllability, reproducibility, smaller size, and polydispersity. Finally, an investigation of the effects of PM-MTH, produced by microfluidic and conventional bulk mixing procedures, on the erythroid differentiation of both human erythroleukemia and human erythroid precursor cells is reported. It is demonstrated that PM-MTH exhibited a slightly lower toxicity and more pronounced differentiative activity when compared to the free drug. In addition, PM-MTH were able to upregulate preferentially ?-globin messenger ribonucleic acid production and to increase fetal hemoglobin (HbF) accumulation, the percentage of HbF-containing cells, and their HbF content without stimulating ?-globin gene expression, which is responsible for the clinical symptoms of ß-thalassemia. These results represent an important first step toward a potential clinical application, since an increase in HbF could alleviate the symptoms underlying ß-thalassemia and sickle cell anemia. In conclusion, this report suggests that PM-MTH produced by microfluidic approach warrants further evaluation as a potential therapeutic protocol for ß-thalassemia.Keywords: microfluidics, lab-on-a-chip, design of experiments, erythroid differentiation, human erythroid precursor cells

Capretto L; Mazzitelli S; Brognara E; Lampronti I; Carugo D; Hill M; Zhang X; Gambari R; Nastruzzi C

2012-01-01

366

[Incidence of beta-thalassemia heterozygotes among pregnant women in the High Madonie region  

UK PubMed Central (United Kingdom)

From January 1990 to July 1991 17 cases of beta-thalassemic heterozygotes were identified out of a population of 400 pregnant women born and living in the High Madonie area of Sicily (Alimena, Blufi, Bompietro, Castellana, Gangi, Geraci Siculo, Petralia Soprana and Sottana, Polizzi Generosa) with a frequency of 1 case out of 23.5 births (4.2%).

Pepe F; Pepe P; Greco L; Sprini R; Garozzo G

1992-05-01

367

Effective RES blood flow changes in children with homozygous. beta. -thalassemia in relation to blood transfusion  

Energy Technology Data Exchange (ETDEWEB)

Denatured radioiodinated human serum albumin (DHA) clearance studies at a dose of 1 mg/kg body wt., were carried out in 16 thalassemic children, prior to and 7-10 days following blood transfusion, to investigate changes of the effective RES blood flow which might accompany the posttransfusion spleen size diminution. A statistically significant increase (P<0.001) of the DHA plasma clearance rate was observed 7-10 days following blood transfusion denoting an increase of the blood flow to the effective RES while at the same time the spleen diminished in size. It is suggested that changes in the effective RES blood flow in these patients are directly related to changes in the intrasplenic circulatory capacity.

Karpathios, T.; Dimitriou, P.; Giamouris, J.; Nicolaidou, P.; Antipas, S.E.; Matsaniotis, N.

1983-01-01

368

Prevalence of anti-HAV antibodies in multitransfused patients with beta-thalassemia  

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Full Text Available AIM: To detect the prevalence of anti-HAV IgG antibodies in adult multitransfused beta-thalassemic patients.METHODS: We studied 182 adult beta-thalassemic patients and 209 controls matched for age and sex from the same geographic area, at the same time. Anti-HAV IgG antibodies, viral markers of hepatitis B virus (HBV) and hepatitis C virus (HCV) infection were evaluated.RESULTS: Anti-HAV IgG antibodies were detected more frequently in thalassemic patients (133/182; 73.1%) than in healthy controls (38/209; 18.2%, P < 0.0005). When we retrospectively evaluated the prevalence of anti-HAV IgG antibodies in 176/182 (96.7%) thalassemic patients, whose medical history was available for the previous ten years, it was found that 83 (47.2%) of them were continuously anti-HAV IgG positive, 16 (9.1%) acquired anti-HAV IgG antibody during the previous ten years, 49 (27.8%) presented anti-HAV positivity intermittently and 28 (15.9%) were anti-HAV negative continuously.CONCLUSION: Multitransfused adult beta-thalassemic patients present higher frequency of anti-HAV IgG antibodies than normal population of the same geographic area. This difference is difficult to explain, but it can be attributed to the higher vulnerability of thalassemics to HAV infection and to passive transfer of anti-HAV antibodies by blood transfusions.

Dimitrios Siagris, Alexandra Kouraklis-Symeonidis, Irini Konstantinidou, Myrto Christofidou, Ioannis Starakis, Alexandra Lekkou, Christos Papadimitriou, Alexandros Blikas, Nicholas Zoumbos, Chryssoula Labropoulou-Karatza

2008-01-01

369

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

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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; Seal Koelina; Das Suvabrata; Chakravarti Hridish Narayan; Bhattacharya Raja

2013-01-01

370

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; Efficace Fabio; Ciotti Francesca; Roncarolo Maria; Vacca Adriana; Piras Eugenia; Littera Roberto; Markous Raji Suleiman; Collins Gary; Ciceri Fabio; Mandelli Franco; Marktel Sarah; La Nasa Giorgio

2012-01-01

371

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

UK PubMed Central (United Kingdom)

UNLABELLED: 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 G; Efficace F; Ciotti F; Roncarolo MG; Vacca A; Piras E; Littera R; Markous RS; Collins GS; Ciceri F; Mandelli F; Marktel S; La Nasa G

2012-01-01

372

[Combined alpha and beta thalassemia in a Chinese family in The Netherlands  

UK PubMed Central (United Kingdom)

In a Chinese family living in The Netherlands alpha 0- and beta-thalassaemia occur singly and in combined form. All members of the family are moderately anaemic and show the characteristic haematological abnormalities of thalassaemia carriers. The nature of the alpha 0-thalassaemia defect was shown at the molecular level to be a deletion of the South East Asian type, which removes about 20 kb of DNA spanning both alpha genes in cis. The chromosome carrying the beta-thalassaemia mutation was identified using RFLPs (restriction enzyme fragment length polymorphisms). The combined heterozygosity for alpha 0- and beta-thalassaemia results in a phenotype virtually indistinguishable from heterozygous beta-thalassaemia, except for the almost balanced globin chain synthesis.

Losekoot M; Beijer C; Giordano PC; van Gemeren AD; Oei YB; Bernini LF

1989-06-01

373

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.)

1987-01-01

374

Beta Thalassemia Minor as a Risk Factor for Suicide and Violence: A Failure to Replicate  

Directory of Open Access Journals (Sweden)

Full Text Available The aim of present study was to evaluate the association of thalassemia minor with suicide, impulsivity and ag-gression. The study group consisted of 293 suicidal subjects, 300 violent criminals and 300 control subjects. Thalas-semia trait was slightly more common in criminals (7.3%) than in controls (6.67%), this difference was not statistically significant (p = 0.75). Similarly, carrier trait was observed more in suicidal subjects (8.87%) though this difference was not statistically significant (p = 0.3). Despite a plausible biological hypothesis, our study results do not support that thalassemia minor could be a risk factor for suicidal, impulsivity and aggressive behaviors.

Alireza Fotouhi Ghiam; Alireza Hashemi; Mohammad Reza Bordbar; Mehran Karimi

2010-01-01

375