Gene/Protein Disease Symptom Drug Enzyme Compound
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 28,634 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Over the last few decades, the use of regular blood transfusions and adequate iron chelation beginning in the first years of life has modified the clinical picture and the natural course of thalassemia major. With the rise in the average age of these patients new problems have emerged, in particular bone disease: osteopenia, osteoporosis and the increased risk of fractures have become important causes of morbidity in a population whose longevity is continuously increasing. The Authors describe the case of a 41 year old patient affected by clinical thalassemia intermedia who presented with vertebral collapse after mild trauma. The physiopathology of osteoporosis and vertebral fractures in thalassemic patients and related management is presented.
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PMID:Vertebral collapse in thalassemia intermedia: case report. 1933 67

T2* maps obtained by the processing of multiecho MR sequences can be useful in several clinical applications. T2* map generation procedures should join a processing time compatible with on-line image analysis with a good precision in the entire T2* range of clinical interest. Fast generation of T2* maps can be achieved by the estimation of the T2* values by the weighted linear fitting of the logarithm of the signal (WLSL) method. This approach fails if the signal decay diverges from a pure exponential decay, as happens at low T2* values where the rapid decay in the signal intensity leads to a plateau in the later echo times (TE). The proposed method implements the automatic truncation of the signal decay curves to be fitted in order to compensate for the signal collapse at low T2* values, allowing the extension of the WLSL method through the entire clinical range of T2* values. Validation was performed on synthetic images and on 60 thalassemia major patients with different levels of myocardial iron overload. Phantom experiments showed that a 5% fitting error threshold represented the best compromise between T2* value measurement precision and processing time. A good agreement was found between T2* map pixel-wise measurements and ROI-based measurements performed by expert readers (CoV=1.84% in global heart T2*, CoV=5.8% in segmental analysis). In conclusion, the developed procedure was effective in generating correct T2* maps for the entire T2* clinical range.
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PMID:Fast generation of T2* maps in the entire range of clinical interest: application to thalassemia major patients. 2548 14

Avascular necrosis (AVN) of bone is defined as the cellular death of bone components due to the interruption of the blood supply; the bone structures then collapse, resulting in pain and loss of joint function. Magnetic resonance imaging (MRI) is the gold standard to diagnose AVN. We present an unusual case of AVN of talus in a patient of thalassemia major that was diagnosed on the Tc-99m MDP bone scan with equivocal findings on MRI. Key Message: The diagnosis of AVN is primarily done using radiological investigations. However, the bone scan plays a role in the diagnosis in atypical presentations and should be considered when MRI is equivocal.
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PMID:Avascular Necrosis of Talus Diagnosed on Tc-99m MDP Bone Scan. 2868 Feb 6