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)

The clinical findings of bone marrow necrosis in 13 patients undergoing bone marrow examination to investigate a peripheral blood cytopenia or leukoerythroblastic blood smear were reviewed and compared to those in the literature. Excluding sickle cell disease, all cases of bone marrow necrosis diagnosed during life were associated with a neoplastic process involving the marrow. A myeloproliferative disorder was found in five patients, metastatic carcinoma in five patients, a lymphoma in two patients, and both a myeloproliferative disorder and metastatic carcinoma in one patient. Marrow necrosis was found to involve the marrow at multiple sites in a piecemeal fashion with areas of necrotic marrow and structurally intact marrow adjacent to each other. Severe bone pain without roentgenographic abnormality was the major symptom in 85% of the patients. Marrow and fat emboli, hypercalcemia and peripheral blood cytopenias were identified as direct complications of marrow necrosis. The prognosis of patients with marrow necrosis secondary to neoplastic disease was found to be extremely poor with a median survival of less than one month. However, one patient responded to antineoplastic chemotherapy and showed healing of the bone marrow.
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PMID:Bone marrow necrosis. 106 33

Discovery of an enlarged spleen in a child requires steps to identify the etiology. One hundred and seventy-eight patients seen over a four-year period (1985-1988) at the Cocody Teaching Hospital were reviewed. The incidence of splenic enlargement among pediatric inpatients was 1.6%. Males (n = 106) were more often affected than females (n = 72). Slightly over half the children (54.49%) were 0 to 5 years of age. The main clinical presenting features were fever (90%), anemia (72%), a decline in general health (36.50%), enlargement of the liver (33.50%), jaundice (26.50%), and enlarged lymph nodes (7%). Type II of Hackett's classification accounted for most cases (61.80%), followed by Type III (14%). Main etiologies included malaria (53%), salmonella infections (15%), sickle cell anemia (14%), schistosomiasis (9%), AIDS (3%), and thalassemia (2%). Malignancies (leukemia, lymphoma) were relatively infrequent. More than one etiology was found in 13 cases. The distribution of etiologies by age group was determined and a strategy for investigating children with splenic enlargement in tropical countries was developed.
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PMID:[Etiology of splenomegaly in children in the tropics. 178 cases reviewed at the university hospital center of Abidjan-Cocody (Ivory Coast)]. 131 90

Low back pain in children and adolescents is often caused by a serious problem. The diagnostic investigation should begin with a complete patient history, complete physical examination, laboratory testing, and plain radiography. These results should be used to direct further imaging studies. Although most of the painful injuries that children sustain in recreational activities are mild, back pain that lasts for extended periods may be due to various disorders, including spondylolysis and spondylolisthesis, disk herniation, Scheuermann disease, or neoplasms. Low back pain can also be caused by diskitis and osteomyelitis, most commonly found in children younger than 10 years old. Primary osseous neoplasms of the lumbar spine are uncommon, with Ewing sarcoma, aneurysmal bone cyst, benign osteoblastoma, and osteoid osteoma being the most common followed by primary lymphoma. These lesions occur more often between the ages of 5 and 20 years. Other causes of low back pain include spinal cord tumors (eg, ependymoma), congenital disorders of the spine (eg, scoliosis), and systemic disease (eg, sickle cell disease).
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PMID:Common causes of low back pain in children. 182 29

Twenty-one cases of amoebiasis seen at autopsy at the University College Hospital, Ibadan, over a 10-year period are reviewed. They constituted 0.59 percent of 3,556 autopsies performed during this period. Delay in seeking medical advice and in diagnosis and commencement of appropriate therapy were some of the factors contributing to the mortality in 16 (76pc) cases. Furthermore, Chronic renal failure, Cirrhosis, Lymphoma, Pregnancy and Sickle cell disease were also contributory factors to mortality in 7 (33pc) cases. With the progressive deterioration of the economics of Nigeria, urban migration and the increasing size of urban slums with crowded unhygienic conditions, the spread of this infection may accelerate and so result in greater mortality in the future.
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PMID:Amoebic cases at autopsy and factors that might have contributed to death at Ibadan. 228 32

Extramedullary hematopoiesis (EMH) is observed in people suffering from severe anemia of prolonged duration and appears to be a compensatory mechanism for disturbed medullary hematopoiesis. The hemoglobinopathies (such as thalassemia, spherocytosis, and sickle cell disease), neoplastic diseases such as leukemia and lymphoma, and others, including myelofibrosis and osteitis fibrosa cystica, are associated with EMH. These diseases and their resultant anemia have in common the ability to stimulate erythropoietin production, which in turn may stimulate hematopoiesis in organs of mesenchymal origin. The liver and spleen are the most common sites of EMH; however, other sites, including the falx cerebri, thoracic cavity, retroperitoneal area and pelvis have been reported. When present, intrathoracic EMH is most frequently associated with thalassemia. Spinal cord compression and hemothorax have also been reported as complications of intrathoracic EMH.
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PMID:Asymptomatic intrathoracic extramedullary hematopoiesis: a report of three cases. 262 Nov 1

Patients with sickle cell anemia (SCA) had an abnormal susceptibility to infections. In Martinique (French West Indies), a human T-cell leukemia/lymphoma virus type I (HTLV-I) endemic area, we found that 17 (10%) of 173 SCA patients had antibodies to HTLV-I. The possible relationship between HTLV-I seropositivity and altered immunity was studied in 13 SCA patients with HTLV-I antibodies compared with 13 matched SCA patients without HTLV-I antibodies. The immunological results, as evaluated by the T-cell subsets analysis, the lymphocyte proliferation responses analyzed after activation with concanavalin A, phytohemagglutinin, or pokeweed mitogen, and the natural killer activity were not statistically different in these two groups of patients (SCA HTLV-I positive vs SCA HTLV-I negative). These data suggest that HTLV-I infection did not result in a major alteration of cellular immunity in this population.
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PMID:HTLV-I antibody and cell-mediated immunity status in sickle cell anemia. 288 38

Infection with the human immunodeficiency virus (HIV) leads to selective depletion of the helper/inducer lymphocyte subset and a subsequent state of acquired cellular immunodeficiency. Simultaneously, evidence of B-cell hyper-activity may exist. A subset of patients infected with HIV demonstrates a syndrome of persistent generalized lymphadenopathy (PGL). Lymph node biopsies reveal benign reactive changes with a pattern of florid follicular hyperplasia. A polyclonal hypergammaglobulinemia reflects humoral immune dysfunction. Patients with PGL are similar to those with full-blown AIDS with regards to demographics, immune and virologic studies. Our prospective natural history study of PGL patients initiated in November 1981 reveals a 15% rate of evolution to AIDS in the 200 patient cohort. Factors associated with increased risk of transformation to AIDS include severity of constitutional symptoms, shrinking adenopathy, oral candidiasis or viral hairy leukoplakia, peripheral cytopenias, elevated erythrocyte sedimentation rate or an antecedent episode of herpes zoster. Therapeutic interventions to prevent evolution to AIDS in high risk subsets of lymphadenopathy patients have been investigated. In addition to benign B-cell proliferation associated with HIV infection, malignant lymphomas have also been diagnosed in 29 patients in AIDS risk groups in our clinic population. All patients were male; 26 homosexuals, 2 IV drug abusers and 1 multiply transfused sickle cell anemia patient. Seven patients had antecedent PGL. Non-Hodgkin's lymphoma was diagnosed in 19 patients. Histologies were predominantly diffuse undifferentiated or large cell. Eleven patients were Stage IV at diagnosis. Of 10 patients with mixed cellularity Hodgkin's disease, 7 were Stage IV-B at presentation. Extranodal disease was frequent in patients with lymphomas. Fourteen patients lacked peripheral lymphadenopathy. Response to chemotherapy was good, but complicated by prolonged marrow suppression and development of AIDS-related opportunistic infections. Median survival was 7 months. Laboratory studies investigating the possible role of lymphotropic retroviruses in the development of AIDS-related lymphomas revealed that serum from all patients with high grade non-Hodgkin's lymphoma contained antibodies to HIV and that the majority also expressed antibodies to HTLV-I. This degree of seroreactivity to HTLV-I and HIV was characteristic only of lymphoma patients as sera from only 10 - 15% of AIDS and ARC patients in San Francisco had similar findings.
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PMID:AIDS-related benign lymphadenopathy and malignant lymphoma: clinical aspects and virologic interactions. 382 9

Marrow transplantation is effective treatment for a number of haematological diseases in patients under the age of 50 who have an HLA-identical sibling donor. It is generally successful when used early in the treatment of aplastic anaemia. It is the only treatment that offers long-term disease-free survival for patients with acute leukaemia who have relapsed at least once, with 10-30 per cent apparent cures. Although still somewhat controversial, it appears also to be the treatment of choice for patients with acute non-lymphoblastic leukaemia in first chemotherapy induced remission and for those with chronic myelogenous leukaemia in the chronic phase since approximately 50-60 per cent of these patients are surviving after marrow transplantation in complete remission, apparently cured. Marrow grafting is the only effective treatment for many patients with inherited immunological-deficiency diseases and certain genetic storage diseases. It is being explored for the therapy of patients with lymphoma, Hodgkin's disease, multiple myeloma, small-cell lung cancer, testicular cancer, ovarian cancer and genetic disorders of haematopoiesis. Cures of congenital Fanconi anaemia, Blackfan-Diamond anaemia, osteopetrosis, and paroxysmal nocturnal haemoglobinuria have been achieved by marrow grafting. Genetic disorders associated with haemolytic anaemia and cyclic neutropenia have been cured by marrow grafting in animals. Target disorders for marrow transplantation in humans are thalassaemia major and sickle cell disease, and, indeed, a first successful transplant for treatment of thalassaemia major has recently been described (Thomas et al, 1982). Marrow transplantation has been limited by the fact that many patients do not have HLA-identical siblings and very few have monozygotic twins. The Seattle team has now explored the use of less well-matched family member donors in more than 80 patients with leukaemia. These donors share one HLA haplotype genetically with the patient and are phenotypically identical at two of the three major HLA loci on the other HLA haplotype (Clift et al, 1979). Overall, the post-transplant survival appears more a reflection of the type and stage of the leukaemia than of the marrow donor. Patients with leukaemia grafted in relapse have a projected survival of 20-30 per cent and those transplanted in remission of 50 per cent. The incidence and severity of GVHD may not be significantly different from that of patients given HLA-identical sibling marrow grafts.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Application of bone marrow transplantation in leukaemia and aplastic anaemia. 635 79

The sialic acid content of erythrocytes from healthy individuals of different blood types and of patients with known hematological disorders has been determined. The sialic acid was completely released enzymatically with sialidase and quantitated by the thiobarbituric acid method. The sialic acid content of erythrocytes was constant irrespective of ABO blood type, or anticoagulant used; viz, 0.85-0.92 mumoles/ml of packed erythrocytes or 46-53 X 10(6) sialyl residues per cell. Deviations from these normal values were obtained with erythrocytes from patients with a variety of hematological disorders. Patients with the following disorders have significantly (P less than 0.01) lower sialic acid values compared to erythrocytes from healthy individuals (given in the order of decreasing sialic acid content): sickle cell anemia, acute lymphocytic leukemia, chronic lymphocytic leukemia, acute myelomonocytic leukemia, non-Hodgkin lymphocytic lymphoma, chronic granulocytic leukemia, acute myelocytic leukemia, leukemia, and Hodgkin disease.
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PMID:Sialic acid content of erythrocytes in normal individuals and patients with certain hematologic disorders. 721 33

Bone marrow necrosis is most frequently diagnosed at postmortem examination. Antemortem diagnosis is still uncommon. In a recent review of world literature, we have found 133 cases of bone marrow necrosis diagnosed during life. It has been observed during the course of a wide variety of diseases, most commonly in association with acute and chronic leukemia, carcinoma, malignant lymphoma, infections, and sickle cell disease. We report two intravitally diagnosed cases of bone marrow necrosis occurring in two patients with high-grade B-cell lymphoproliferative disease. These cases are unusual in that both patients had a triad of bone marrow necrosis, high-grade B-cell lymphoproliferative disease, and hypercalcemia. Despite chemotherapy, both cases ultimately proved fatal, with progressive involvement of the central nervous system.
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PMID:Bone marrow necrosis. 766 31


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