Frequency of neurological manifestations in β-thalassaemic patients in Zagazig University Hospitals

Background: Beta thalassemia syndrome is a hereditary disorder characterized by reduced or absent synthesis of thebeta chains of hemoglobin that disturbs the normal shape of red blood cells. Chronic hypoxia of the nerves resulting from severe anemia may contribute to the pathogenesis of the peripheral neuropathy in patients with β-thalassemia. The aim of this study was to find out the frequency of neurological manifestations in β- thalassemia patients and to determine the contributing factors that lead to these manifestations.Patients and Methods: This study was prospective cross sectional study conducted during the period from June 2019 to December 2020. This study was carried out on 120 thalassemia patients (67 males and 53 females), with ages ranged from 11 to 22 years old with a mean age of 16.45+3.31 years.Results: About 31.7% of the studied cases had neurological manifestations. Tingling and numbness were the main neurological symptoms among cases (24.1% and 23.3% respectively) followed by headache (21.7%), joint and muscle pain (20.8%) and tremors in hands (3.3%). Hypotonia was found in 25 cases (20.8%). Grade 4 muscle power was reported in 13 cases (10.8%) and normal (grade 5) muscle power was reported in 107 cases (89.1%). Deep tendon reflexes were normal in (89.2%) cases, while (10.8%) cases had brisk deep tendon reflexes.Conclusion: Frequency of neurological manifestations in beta thalassemia patients was 31.7%. About 26.3% of them had abnormal nerve conduction study (NCS). Age >16 years old, short stature, prolonged duration of the disease, transfusion frequency >10 times/year, delayed puberty and jaundice were risk factors for neurological manifestations in our studied cases

β-Thalassemia: Genotypes and Phenotypes

β-Thalassemias are extremely heterogeneous at the molecular level. More than 200 disease-causing mutations have been identified. The majority of mutations are single nucleotide substitutions. Rarely, β-thalassemia results from gross gene deletion. The degree of globin chain imbalance is determined by the nature of the mutation of the β-gene. β0 refers to the complete absence of production of β-globin on the affected allele. β+ refers to alleles with some residual production of β-globin (around 10%). In β++, the reduction in β-globin production is very mild. The broad spectrum of β-thalassemia alleles can produce a wide spectrum of different β-thalassemia phenotypes. In this chapter, we review the molecular basis of the marked heterogeneity of the thalassemia syndromes or in other words the genotype-phenotype relationship in β-thalassemia

Target Therapy in Neuroblastoma

Neuroblastoma is an embryonal malignancy that originates in the sympathetic nervous system. It is the most common solid tumor in infants and the most frequent extracranial solid tumor in children. Neuroblastoma accounts for 10% of childhood malignancies with 75% occurring in children <4 years. Stage, age, clinical and tumor genomic features are the principal criteria for determining treatment policy. Treatment modalities traditionally employed in the management of neuroblastoma are surgery, chemotherapy, and radiotherapy. Intensive multimodal treatment in patients with neuroblastoma has resulted in improved survival rates. However, there is a considerable percentage of patients with refractory and relapsed disease. Targeted therapy for neuroblastoma involves treatment aimed at molecular targets that have a unique expression in this childhood cancer. A large number of molecular targets have been identified for the treatment of high-risk and relapsed neuroblastoma. Treatment in this way aims at providing a more selective way to treat the disease and decreasing toxicities associated with the conventional treatment regimen

Cardiac events and cardiac T2* in Egyptian children and young adults with β-thalassemia major taking deferoxamine

BACKGROUND AND OBJECTIVES: Cardiac events and death are not uncommon in adults with β-thalassemia (β-TM) taking deferoxamine (DFO) monotherapy because of poor compliance and possibly the less effectiveness of DFO in controlling cardiac iron overload. We sought to assess compliance with DFO, the percentage of shift to other iron chelators, and the occurrence of cardiac siderosis, and cardiac events and death in β-TM patients on DFO monotherapy. DESIGN AND SETTING: Prospective, observational, 10-year follow-up of patients attending Ain Shams Thalassemia Unit, Cairo, Egypt. METHODS: For all β-TM patients aged 2-18 years attending the unit during January 1998 and taking DFo, we recorded all cardiac events (whether fatal or not) during January 2008. Ah patients still on DFo monotherapy and with a normal EKG and not showing symptoms or signs suggestive of heart failure (HF) were evaluated for cardiac siderosis by T2*. RESULTS: Of 412 patients, only 126 (31%) were still taking DFO monotherapy (only 43% of those were compliant), 1 36 were taking combined DFO and deferiprone (DFP), 72 were taking DFP and 32 were taking deferasirox (DFX). Twenty-one were lost follow-up and 25 died (10 cardiac). eight of ten cardiac deaths and 12 of 15 non-cardiac deaths were in the DFO monotherapy group. Those taking DFo monotherapy with no HF and left ventricular ejection fraction (LVEF) by T2* >56% had a median age of 19 years and 56% were males; cardiac T2* was <20 ms in 30 (22%); 10-20 ms in 20 (14.7%) and <10 ms in 10 (7.3%). LVEF ranged from 58%-76 % (median 64%). Forty percent of T2* patients <10 ms were compliant with DFO. CONCLUSION: Fifty-eight percent of patients on DFO monotherapy were noncompliant, but even compliance did not prevent severe cardiac siderosis and most cardiac events (whether fatal or not) that occurred in the DFO monotherapy group