Impact of Genotype of Beta Globin Gene on Hepatic and Myocardial Iron Content in Egyptian Patients with Beta Thalassemia.

Iron overload causes most of the mortality and morbidity associated with thalassemia. Excess iron deposits primarily in the liver, but once a threshold level is reached, iron loading may occur in other tissues such as the heart. Magnetic resonance imaging is a well established technique to noninvasively quantify myocardial and liver iron content. More than 300 disease-causing mutations have been identified. We aimed to determine the impact of genotype on liver iron content in patients with beta thalassemia. Cross sectional study was carried on 73 patients with beta thalassemia. MRI liver and heart was performed to determine hepatic and myocardial iron overload. Genotyping was determined by DNA sequencing technique. The mean liver iron content was 17.4 mg/g dw and mean cardiac T2* was 25.5 ms in our patients. Patients with ß0ß0 were associated with significantly higher liver and myocardial iron content compared to those with ß0ß+ and ß+ß+ genotypes. There was a clear association between genotype and both hepatic and myocardial iron overload. Patients with ß0ß0 had significantly higher liver and heart iron content compared to those with ß0ß+ and ß+ß+ genotypes. Liver iron content was strongly correlated to serum ferritin levels and myocardial iron overload.

Association between genotype and disease complications in Egyptian patients with beta thalassemia: A Cross-sectional study.

In beta thalassemia, the degree of globin chain imbalance is determined by the nature of the mutation of the ß-gene. ß° refers to the complete absence of production of ß-globin on the affected allele. ß+ refers to alleles with some residual production of ß-globin. The homozygous state results in severe anemia that necessitates regular blood transfusion. On the other hand, frequent blood transfusion can lead to iron overload resulting in progressive dysfunction of the heart, Liver as well as multiple endocrinopathies. We studied the impact of genotype on the development of disease complications in patients with ß thalassemia. A Cross sectional study was carried on 73 patients with beta thalassemia. Genotyping was determined by DNA sequencing technique. Routine investigations as well as MRI liver and heart were performed to assess iron overload. We found that ß+ß+ was the most common genotype in our patients followed by ß°ß° and ß°ß+. Mean Liver iron content (LIC) was significantly higher in ß°ß° compared to ß°ß+ and ß+ß+ genotypes and mean cardiac T2* was significantly lower in ß°ß° compared to ß°ß+ and ß+ß+ genotypes. Hepatic complications, hepatitis C, cardiac complications and some endocrinopathies were significantly higher in patients with ß°ß° genotype compared to other genotypes which explain the role of the underlying genetic defect in thalassemia patients in development of disease complications.

Differentiating Benign from Malignant Sinonasal Lesions: Feasibility of Diffusion Weighted MRI.

Introduction Appearance of nasal masses on routine CT and MRI are not pathognomonic. We utilized the apparent diffusion coefficient (ADC) value obtained from diffusion weighted image (DWI) to detect the differences in the microstructures of tumor and non-tumor tissues. Objective The objective of our study was to evaluate the diagnostic role of DWI and ADC values in differentiating between malignant and benign sinonasal lesions and its correlation with histopathological results as the reference standard. Methods Patients with nasal and / or paranasal mass underwent CT, MRI, and DWI before any surgical intervention. We used diagnostic sinonasal endoscopy and biopsy to confirm the diagnosis after MRI. Results When we used ADC value of (1.2 × 10-3 mm2/s) as a cut-off value for differentiating benign from malignant sinonasal lesions, we achieved 90% accuracy, 100% sensitivity, 88.4% specificity, 77.8% positive predictive value, and 100% negative predictive value. At this cut-off, benign lesions show statistically significant higher ADC value than malignant tumors. Conclusion DW MRI and ADC value calculation are promising quantitative methods helping to differentiate between malignant and benign sinonasal lesions. Thus, they are effective methods compared with other conventional methods with short imaging time thus it is recommended to be incorporated into routine evaluations.

Differentiating Benign from Malignant Sinonasal Lesions: Feasibility of Diffusion Weighted MRI

Abstract Introduction Appearance of nasal masses on routine CT and MRI are not pathognomonic. We utilized the apparent diffusion coefficient (ADC) value obtained from diffusion weighted image (DWI) to detect the differences in the microstructures of tumor and non-tumor tissues. Objective The objective of our study was to evaluate the diagnostic role of DWI and ADC values in differentiating between malignant and benign sinonasal lesions and its correlation with histopathological results as the reference standard. Methods Patients with nasal and / or paranasal mass underwent CT, MRI, and DWI before any surgical intervention.We used diagnostic sinonasal endoscopy and biopsy to confirm the diagnosis after MRI. Results When we used ADC value of (1.2 x 10 3 mm2/s) as a cut-off value for differentiating benign from malignant sinonasal lesions, we achieved 90% accuracy, 100% sensitivity, 88.4% specificity, 77.8% positive predictive value, and 100% negative predictive value. At this cut-off, benign lesions show statistically significant higher ADC value than malignant tumors. Conclusion DW MRI and ADC value calculation are promising quantitative methods helping to differentiate betweenmalignant and benign sinonasal lesions. Thus, they are effective methods compared with other conventionalmethods with short imaging time thus it is recommended to be incorporated into routine evaluations.

Magnetic resonance imaging of the brain in survivors of childhood acute lymphoblastic leukemia.

The issue of delayed neurological damage as a result of treatment is becoming increasingly important now that an increased number of children survive treatment for acute lymphoblastic leukemia (ALL). Following modification of the treatment protocols, severe symptomatic late effects are rare, and most adverse effects are detected by sensitive imaging methods such as magnetic resonance imaging (MRI) or by neuropsychological testing. In this study we aimed to determine the prevalence and characteristics of late central nervous system (CNS) damage by MRI and clinical examination in children treated for ALL. A cross-sectional study was carried out at the pediatric oncology unit of Zagazig University, Egypt, and included 25 patients who were consecutively enrolled and treated according to the modified Children's Cancer Group (CCG) 1991 protocol for standard risk ALL and the modified CCG 1961 protocol for high-risk ALL and who had survived more than 5 years from the diagnosis. All relevant data were collected from patients' medical records; particularly the data concerning the initial clinical presentation and initial brain imaging. All patients were subjected to thorough history and full physical examination with special emphasis on the neurological system. MRI of the brain was performed for all patients. The mean age of patients was 6.9±3.04 years at diagnosis and was 12.9±3.2 years at the time of study. The patients comprised 14 boys and 11 girls. Abnormal MRI findings were detected in six patients (24%). They were in the form of leukoencephalopathy in two patients (8%), brain atrophy in two patients (8%), old infarct in one patient (4%) and old hemorrhage in one patient (4%). The number of abnormal MRI findings was significantly higher in high-risk patients, patients who had CNS manifestations at diagnosis and patients who had received cranial irradiation. We concluded that cranial irradiation is associated with higher incidence of MRI changes in children treated for ALL. Limitation of cranial irradiation to selected patients contributed to a lower incidence of neurological complications in our study. MRI is a sensitive radiological tool to detect structural changes in children treated for ALL, even in asymptomatic cases.