منابع مشابه
thiamine– responsive megaloblastic anemia syndrome
thiamine responsive megaloblastic anemia in didmoa (wolfram) syndrome has an autosomal- recessive mode of inheritance . megaloblastic anemia and sideroblastic anemia is accompanied by diabetes insipidus (di), diabetes mellitus (dm) ,optic atrophy (oa) and deafness (d). neutropenia and thrombocytopenia are also present. we report a 7 month old girl with congenital macrocytic anemia a rare clinic...
متن کاملThiamine responsive megaloblastic anemia.
This report describes a female child with thiamine responsive megaloblastic anemia syndrome (Rogers syndrome), presenting with anemia and diabetes mellitus responding to thiamine. She also had retinitis pigmentosa. The anemia improved and blood sugar was controlled with daily oral thiamine. Previously unreported olfactory abnormalities, as described in Wolfram syndrome, were also present in our...
متن کاملThalassemia Associated Pulmonary Hypertension
Cardiac disease is the main cause of death in both forms of thalassemia; thalassemia major (TM) and thalassemia intermedia (TI). Pulmonary hypertension (PH) is one of the cardiopulmonary morbidities with high mortality that, if not treated, may trigger right-sided heart failure and premature death. PH is defined as a mean pulmonary artery pressure of ≥25 mmHg at rest or ≥30 mmHg during exercise...
متن کاملEvaluation of Pulmonary Hypertension In First Degree Relatives Of Patients With Primary Pulmonary Hypertension
Background: Pulmonary hypertension (PH) was defined for the first time in 1951 as primary pulmonary hypertension (PPH). Some studies emphasized on the role of genetics in the development of pulmonary hypertension in family members of affected patients. So, in this study we evaluated the prevalence of pulmonary hypertension in first degree family of patients with documented PPH. Methods: In thi...
متن کاملA Peripheral Blood Signature of Vasodilator - Responsive Pulmonary Arterial Hypertension
M Medicine, De e ep partme me ment o of f P P Pediat atri ric cs, , Vand nd nderbi i ilt t Un niv iv ver er ers sit t ty M M Me e edica a al C Ce Cen nt nte e er, , Na a ash h hvi ill le e, T TN N Abstract Background—Heterogeneity in response to treatment of pulmonary arterial hypertension (PAH)
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ژورنال
عنوان ژورنال: Case Reports
سال: 2013
ISSN: 1757-790X
DOI: 10.1136/bcr-2012-007938