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Fibrodysplasia ossificans progressiva, also known as myositis ossificans progressiva, is characterized by congenital skeletal malformations and progressive ectopic bone formation in connective tissues. The disorder presents as rapidly growing masses usually in the neck or paraspinal region with stiffness in the adjoining joints. The preosseous lesions(More)
BACKGROUND The clinical and hematological response to hydroxyurea was evaluated in beta thalassemia patients in western India with variable clinical severity and correlated with genetic factors. MATERIALS AND METHODS Seventy-nine patients-[38-beta thalassemia intermedia-(group I), 41-beta thalassemia major-(group II)] on hydroxyurea therapy were(More)
Our objectives were to determine the accuracy of antenatal sonography for the detection of congenital renal malformations and to characterize the type of malformations, seen in a 3-year prospective study at a university-affiliated maternity hospital. Participants were 31,217 pregnant women, during the study period, and subjects were 65 fetuses in whom renal(More)
BACKGROUND X-linked hyper-IgM (XHIM) is a primary immunodeficiency disorder characterized by recurrent infections, low serum IgG and IgA and normal or elevated IgM. It results from mutations in the CD40 ligand (CD40L) gene. Confirmation of diagnosis with identification of underlying molecular defect is important for the initiation of appropriate therapeutic(More)
OBJECTIVE To determine the prevalence of growth abnormality and endocrine dysfunction in a group of multi transfused thalassemic children and to correlate these with their body iron stores. METHODS This cross sectional study included 35 Thalassemia Major patients, aged 13 to 24 years. Growth and puberty were assessed clinically and the laboratory values(More)
BACKGROUND Haemoglobin E (HbE)-beta-thalassaemia has a very variable clinical presentation. The management of severe cases that are often transfusion dependent is similar to that of cases of beta-thalassaemia major; however, this is often not possible in India because of its high cost and the lack of availability of safe blood at many places. Thus there was(More)
OBJECTIVE To quantify myocardial iron stores by Cardiac Magnetic Resonance (CMR). DESIGN Prospective cohort study. SETTING Thalassemia center in a teaching hospital. PARTICIPANTS 60 transfusion dependant thalassemia major patients and 10 controls during 2008-2009. METHODS MRI T2* for cardiac iron load and cardiac functions was performed on a 1.5(More)