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)

Since considerable expansion of hematopoietic marrow occurs in patients with sickle cell anemia (SCA), magnetic resonance images of 20 hips in 10 patients with known homozygous SCA were reviewed to determine a) if low signal hematopoietic marrow extended into the femoral capital epiphysis and b) if the MR characteristics of avascular necrosis (AVN) differed depending on the type of epiphyseal marrow. Our results revealed variable epiphyseal marrow type; mixed (fatty and hematopoietic) marrow (42%), fatty marrow (32%), hematopoietic marrow (16%) and hemosiderotic marrow (10%). AVN occurred irrespective of the underlying marrow. Segmental areas of low signal intensity in variable shapes (ring, band, crescent or large homogeneous area) was the most consistent MR manifestation of AVN in SCA. A low signal intensity peripheral rim surrounding a central zone, isointense with epiphyseal marrow on T1 and T2 weighted images, was most frequently observed similar to that described in patients without hemoglobinopathy. The notable difference, however, was of segmental areas within the same femoral head that demonstrated variable central zone signal on T2 weighted images. Further, while an increase in hip joint fluid is commonly seen with both early and advanced AVN in patients without hemoglobinopathy; it was increased in only one hip in patients with SCA. The observed differences in MR characteristics may be due to different pathophysiology of AVN in patients with SCA.
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PMID:Femoral head avascular necrosis in sickle cell anemia: MR characteristics. 321 Sep 9

Aseptic necrosis of the femoral head is a well-defined entity. The underlying diseases originate from very different types of pathological conditions. Alcoholism, cortisone therapy, gout or hyperuricemia, sickle cell anaemia and others all lead, through various pathways, to the impairment of the medullary blood flow. In many instances, a compartment syndrome can be demonstrated in the femoral head. Death of the osteocytes follows bone marrow necrosis. Revascularisation originates in the periphery of the necrotic segment. Vascular buds and fibroblasts invade the medullary space. New bone is laid over the necrotic trabeculae. Mechanical failure results from changes in the bony framework at three different levels. The subchondral boneplate may be weakened by the process of revascularisation, the necrotic trabeculae may fail because of diminished stiffness and strength, and overloading has been demonstrated at the junction between dead and living bone. Elevation of the intramedullary pressure is the first objective sign of impending or established bone necrosis. Scintigraphy with Technetium 99 m - Sulphur colloid can now show the early stages of marrow necrosis. Roentgenographic changes only appear in a later phase of the disease. Aseptic necrosis must be considered as involving both hips, unless proven otherwise. Attention given to the "silent hip" may allow salvage and prevent the occurrence of osteo-arthritic changes leaving merely unilateral disease. As long as the geometrical shape of the femoral head is maintained operation may well prove useful. The aim at this stage is to prevent collapse. It is impossible to know in the early stages whether mechanical failure will occur, but there is general agreement that the femoral head will eventually undergo deformation. A spherical epiphysis is therefore considered a success. All the conservative methods aim to decompress the medullary cavity. Core biopsy, curettage, bone grafting and intertrochanteric osteotomy all have their advocates. After fracture of the subchondral bone plate has occurred, there is evidence that grafts are unable to restore the strength of the necrotic area. Intertrochanteric osteotomy brings under the main load-bearing zone a vital part of the femoral head. Varus osteotomy can be successful if necrosis has spared sufficient of the lateral portion of the head. Rotation osteotomies, as proposed by Sugioka, are more radical and difficult operations. The published results are promising. Revascularisation of the weight-bearing area by pedicle grafts has been attempted, alone or in addition to osteotomy.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:[Aseptic necrosis of the femoral head in young adults]. 638 8

To evaluate if the immune system is active in slipped capital femoral epiphysis (SCFE) or chondrolysis, 16 patients with SCFE were studied by evaluation of their serum immunoglobulins, histology of their synovium, and immunofluorescent staining of their synovium. Patients with Perthes' disease, chondromalacia patellae, septic arthritis, sickle cell disease, and torn meniscus were controls. Serum immunoglobulins were normal in all patients. The histology demonstrated synovitis in all patients except in one normal knee. Plasma cells were a prominent feature of the synovitis in the patients with SCFE. Three patients had positive synovial immunofluorescence for IgG and C3. Two of these patients subsequently developed chondrolysis and one did not. One additional patient who had negative synovial immunofluorescence developed chondrolysis. It is postulated that the immune system is active in some patients with SCFE, but what, if any, role it plays in the disease or its complications remains to be shown.
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PMID:Synovial immunofluorescence in patients with slipped capital femoral epiphysis. 704 51

Slipped capital femoral epiphysis in a child with sickle cell disease has not been reported previously. The diagnostic challenges, role of imaging techniques, and the medical treatment of this patient are discussed. The presentation of acute hip or leg pain in a child with sickle cell disease should alert the treating physician to the possibility of a vaso-occlusive crisis as the likely source of the child's pain. The goal of the current case report is to emphasize the need to maintain a high index of suspicion for other potential causes of hip, thigh, or knee pain such as slipped capital femoral epiphysis in an adolescent. Preoperative and postoperative care for a child with sickle cell disease needs to be modified to minimize the risks of vaso-occlusive complications.
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PMID:Slipped capital femoral epiphysis in a child with sickle cell disease. 1502 Nov 54

Salmonella osteomyelitis occurs infrequently in children without sickle cell disease. Similarly, acute osteomyelitis of the epiphysis has been rarely reported. We present a case of primary epiphyseal osteomyelitis caused by Salmonella in the distal femur of an otherwise healthy 17-month-old child. Before isolating an organism, parenteral nafcillin provided ineffective clinical, radiographic, and laboratory responses. Repeated fluoroscopic-guided percutaneous surgical drainages allowed for identification of the Salmonella, but did not resolve the epiphyseal infection, as the infection focus was missed. In the effort to eradicate the infection yet minimize further trauma to the epiphysis, computed tomography-guided drainage was performed and the infection subsequently resolved. Owing to its greater localization accuracy and minimal invasiveness, the computed tomography-guided intervention allowed for precise drainage without compromising the contiguous growth plate. At latest follow-up, the patient was ambulating well, had a normal knee examination, and had no evidence of leg length discrepancy or growth disturbance.
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PMID:Treatment of acute salmonella epiphyseal osteomyelitis using computed tomography-guided drainage in a child without sickle cell disease. 1790 39

The treatment of bone a vascular necrosis is a big challenge considering the youthfulness of the patients involved by necrosis in sickle cell disease and the importance of the generated disability. A vascular osteonecrosis is an epiphysis pathology which could be treated by joint replacement with success, however, multiple surgical procedures are mostly necessary during the patient's life with a hazardous long term functional results. The treatment by autologous bone marrow grafting is an effective alternative which preserve the native joint. Using this mini-invasive high technology surgical treatment in early stages, a joint replacement could be avoided in many patients.
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PMID:Percutaneous implantation of autologous bone marrow osteoprogenitor cells as treatment of bone avascular necrosis related to sickle cell disease. 1947 32