Giant Mediastinal Mass in A 3-year-old Boy, A Rare Presentation of Neurofibromatosis Type I

Neurofibromatosis type 1 (NF1) is an autosomal dominant disease diagnosed with presentation of café-au-lait macules, Skinfold freckling, iris Lisch nodules, neurofibromas, osseous lesion and Optic gliomas. Mediastinal mass as first presentation of NF1 is very rare and its frequency is about 2.7%. here we present a rare case of NF1 in a 3-year-old boy admitted with respiratory distress and superior vena cava syndrome

Two risk factors for hypozincemia in diabetic β-thalassemia patients: Hepatitis C and deferasirox.

Background and aimHypozincemia is a prevalent adverse consequence in diabetes mellitus (DM) and β-Thalassemia patients. We aimed to evaluate the level of serum zinc in β-thalassemia patients with DM and a risk assessment for hypozincemia.MethodsThe study population included transfusion-dependent thalassemia (TDT) and non-transfusion-dependent thalassemia (NTDT) with overt DM (fasting plasma glucose (FPG) ≥126 mg/dL, and/or 2-h plasma glucose≥200 mg/dL). Serum zinc concentration was measured by the colorimetric method, and the values below 70 μg/dL were defined as hypozincemia. Myocardial and liver T2*-weighted magnetic resonance imaging (MRI T2*, millisecond [ms]) were valued by a free contrast MRI. The demographic, clinical, paraclinical, and laboratory data were also recorded. The data belonged to the period from December 2018 until December 2020.ResultsOf 64 diabetic β-thalassemia patients, 41 cases had zinc data in their medical files (aged 38 ± 9 years, 48.8% female). 78.05% of patients (n = 32) were TDT, and 21.95% were NTDT (n = 9). The mean ± standard deviation of zinc level was 110.2 ± 127.6 μg/dL. The prevalence of hypozincemia was 9.76%, 95% confidence interval [CI] 0.27 to 19.24 (four cases). After controlling age, the odds of hypozincemia for using deferasirox (DFX) was 8.77, 95% CI 0.60 to 127.1. In β-thalassemia patients, the age-adjusted risk of hypozincemia was calculated at 15.85, 95% CI 0.47 to 529.3 for hepatitis C. The adjusted risk of hypozincemia based on age for antacid use was 6.34, 95% CI 0.39 to 102.7.ConclusionIn light of this study, as well as hepatitis C, using DFX and antacids is associated with a high risk of hypozincemia amid diabetic β-thalassemia cases. However, upward bias should be taken into consideration

Factors Related to Reduced Bone Density in β-Thalassemia Major Patients: Mazandaran Thalassemia Registry

Introduction: OsteoPenia and osteoPorosis are known to be one of the main comPlications of β-thalassemia major (β-TM). The aim of this study was to determine the factors associated with decreased bone density of these Patients. Methods: Lumbar and femoral neck bone mineral density (BMD) in β-TM Patients characterized via Dual-energy X-ray absorPtiometry (DXA) to PinPoint the association of iron chelators, diabetes mellitus, serum ferritin above 3000 ng/mL, hemoglobin below 8 gr/dl, using hydroxyurea, liver siderosis and moderate to severe hePatic and cardiac siderosis with BMD. The information was collected from the thalassemia registry in 2019 and statistical analysis was Performed by STATA-13 software. Results: Out of 1959 ParticiPants with β-thalassemia major registered in the registry, 139 ones (7.09%) had bone mineral density (53 males and 86 females). The Prevalence of abnormal bone density in the lumbar and femoral neck was (52.48 to 47.66) 57.5 and (40.18 to 57.52) 48.85 Percent, resPectively. After adjusting for the effects of Possible interventions, the odds ratio of abnormal bone density in the Patients consuming hydroxyurea and deferasirox were 0.24 (0.03 to 1.73) and 0.25 (0.03 to 1.69), resPectively. The highest odds were 8.21 (0.18 to 360.22), and 6.72 (0.60 to 74.83) for moderate to severe cardiac and hePatic dePosition, resPectively. Conclusion: The Prevalence of osteoPenia and osteoPorosis is high among thalassemia major Patients. ConsumPtion of hydroxyurea and deferasirox is the most imPortant Protective factor and moderate to severe cardiac and hePatic siderosis are the most imPortant risk factors for abnormal bone density