Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002895 (sickle cell disease)
 11,747 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Splenic visualization with a bone-seeking agent 99mTc-methylene diphosphonate (99mTc-MDP) with absence of splenic uptake using sulfur colloid was seen in a 15-year-old boy in sickle cell crisis. Uptake of 99mTc-MDP is probably due to splenic infarction and calcification. This represents a potentially sensitive method for following the functional auto-splenectomy process in sickle cell disease and may also detect the presence of splenic tissue when it is not visualized in a sulfur colloid liver/spleen scan. Splenic visualization by bone-seeking agents should not be confused with skeletal lesions or indicate the presence of an abnormal left upper quadrant mass lesion.
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PMID:Splenic visualization using 99mTc-methylene diphosphonate in a patient with sickle cell disease. 69 47

A patient with sickle cell disease developed bi-parietal calvarial infarctions, and subsequently developed bi-frontal calvarial infarctions. The findings on [99mTc]MDP bone imaging showed decreased activity in the parietal and frontal regions during the phase of acute infarction and increased activity in the parietal region during the later healing phase. Thus the findings on radionuclide bone imaging in cortical infarcts will depend upon the stage of the condition.
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PMID:Radionuclide bone imaging findings in recurrent calvarial infarction in sickle cell disease. 334 47

Unusual sites of bone infarction, in the skull and sternum, were observed in a patient suffering from sickle cell anemia. A 99mTc-MDP scan was performed and demonstrated foci of decreased activity in the symptomatic regions. The differentiation of bone infarction from osteomyelitis in sickle cell anemia patients is illustrated.
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PMID:Uncommon sites of bone infarction in a sickle cell anemia patient. 661 4

A 22-year-old African male with known sickle cell anaemia was referred by a Congolese medical centre with a request to improve his poor physical condition. He was unable to walk, stand or sit because his large joints and his spine were either ankylosed or very rigid. Radiographs showed joint fusion from the third to the fifth cervical vertebrae, of both hips, of the left knee, and a bilateral osteonecrosis of the humeral head. There was no scintigraphic evidence for an active osteomyelitis (99mTc-MDP (methyldiphosphonate) bone scan, Tc monoclonal antigranulocyte scan and 99mTc sulphur colloid scan). To improve his mobility the right femoral head was resected in June 1997; 14 days later the left femoral head was resected. Four months after the resection of the right hip, a right uncemented total hip prosthesis was implanted on this side. One month later the same type of hip arthroplasty was performed on the left side. During the postoperative rehabilitation period the patient regained autonomy. We have found no previous reports of such severe and multiple joint complications in a single patient suffering from sickle cell anaemia.
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PMID:A 'made in one piece' skeleton in a 22-year-old man suffering from sickle cell anaemia. 1094 10

Sickle cell disease (SCD) is the best known haemoglobinopathy, caused by a mutation substituting valina for glutamic acid at position 6 of the beta-globin chain of adult hemoglobin A, resulting in hemoglobin S (HbS). The homozygous HbS disease (HbSS), an autosomal recessive disorder, is the most common form and the Mediterranean area, along with sub-Saharian African and India, have the highest prevalence (1%-15%). In particular, Sicily with a prevalence of 2%-5%, is among the most interested regions. However, migratory flows have led to a wider diffusion of the disease no longer confined to endemic areas. In Europe, the yearly estimate of affected births are 1,300 but more than 90% of children with SCD survive into adulthood thanks to screening programs and early available care; however, their lifespan remains shortened by two or three decades compared to general population. In Greece, the number of affected births surpassing 100,000 yearly and the total number of newborns carrying two deleterious genes, if no prevention measures are taken, is estimated to be about 120-130/year. Diagnosis of SCD is based on analysis of haemoglobin through protein electrophoresis or chromatography, that are cheap and widely available techniques, even if haemoglobin mass spectrometry and DNA analysis are techniques with high-throughput testing. Prenatal diagnosis is used in many European countries, so the number of affected newborns has significantly decreased during the last 3 years. Over the course of SCD, sickling process may cause acute and chronic abdominal pain due to vaso-occlusive crisis, bone pain often in long bones due to bone marrow infarction, chronic hemolytic anemia, splenic sequestration with rapid enlargement of the spleen, delayed sexual maturation and cholelithiasis, with important inter-indivuidual variability. Sickle hepatopathy reflects liver sickling process within hepatic sinusoids and includes gallstone disease, hepatic sequestration, hepatic sideroris, acute sickle cell hepatic crises (ASHC) and sickle cell intrahepatic cholestasis (SCIC). Clinically, it appears with fever, right upper quadrant pain, jaundice and increased serum liver function tests. These patients are repeatedly esposed to trasfused red cells that contributes to iron overload and may contribute to hepatic haemosiderosis. Increased bone turnover and resorption by osteoclasts and by marrow expansion due to activation of hematopoiesis. The hematopoietic system may expand physiologically. Computed tomography (CT) is an easily reproducible imaging method that allows the morphologic whole-body evaluation although with a high dose of radiation exposure and possible side effects from intravenous contrast media. Magnetic resonance cholangiopancreatography (MRCP) is a noninvasive technique without radiation chosen to image cholangiopathy and may be followed by the execution of endoscopic retrograde cholangiopancreatography (ERCP) in case of gallstone disease. Otherwise it can be helpful in identifying extramedullary hematopoiesis sites. Dual-energy X-rays absorptiometry (DEXA) is performed to evaluate deficit of bone mineral density (BMD), in which reduction of osteoblastic activity, high risk for necrosis may induce to fragility fractures. We recently had the experience of a typical case of a 56 years old Albanian woman with SCD, with jaundice after a long history of recurrent vaso-occlusive crisis. She was submitted to splenectomy and cholecystectomy 5 years before and since then she was treated with hydroxyurea. Hemocromatosis was excluded by genetic analysis. Hepatic biopsy (Pearl's stain) showed sinusoidal dilatation and diffuse iron accumulation in hepatocytes and Kupffer cells. Endo-hepatic jaundice was observed in MRCP images. It was interesting that DEXA examination was within normal range in both right proximal femur. This may probably be due to the presence of sclerotic lesions in the vertebrae, as was seen in the CT images. Technetium-99m-methylen bisphosphonate (99mTc-MDP) skeletal scintigraphy is a higly sensitive whole-body diagnostic nuclear medicine technique able to evaluate early bone metabolic changes. Multimodality SPET/CT allows to correlate scintigraphic findings with anatomical images with higher sensitivity and specificity. The higher uptake of 99mTc-MDP in SCD patients is due to the activation of hematopoetic system and relies on the osteoblastic response to bone resorption as in our patient. The 99mTc-MDP scan may be better than fluorine-18-fluorodeoxyglucose positron emission tomography/computed tomography (18F-FDG PET/CT) to show sclerotic lesions. Technetium-99m nanocolloids bone marrow scintigraphy (BMS) provides information about the assessment of the reticulum-endothelial system (RES), the whole-body distribution of functional red bone marrow and the presence and the extent of extramedullary hematopoiesis, especially in liver, spleen and bone marrow. Fluorine-18-FDG PET/CT completes the whole-body assessment with an integrated multimodal approach with high spatial resolution that evaluates the metabolic activity and the standardized uptake value (SUV) in SCD patients. Modern genetic diagnosis and gene treatment give promise for having fewer cases of SCD in the future.
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PMID:Sickle cell diseases: What can nuclear medicine offer? 3084 1