Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound

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Query: UMLS:C0019214 (hepatosplenomegaly)
4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 16-year-old girl developed a pain and paresis in the right hip joint in April 1994. Abdominal CT scan revealed hepatosplenomegaly and large tumor mass (6 x 7 x 13 cm) invading the right psoas muscle in the pelvic cavity. Laboratory data disclosed marked granulocytosis, the presence of Ph1 translocation and bcr-abl rearrangement, thus a diagnosis of CML was made. The tumor was shown to be consisted of granulocytes at all stages of development by a fine needle aspiration cytology. According to the criteria of IBMTR, the disease was classified as accelerated phase solely because the sum of myeloblasts and promyelocytes exceeded over 20%. The patient was treated with hydroxycarbamide, 6MP and dexamethasone, and marked reduction of the tumor mass was observed. Then an allogeneic BMT was performed from her HLA- identical brother on August 1994. She did not develop clinically significant symptoms except for grade I skin GVHD. The tumor was completely disappeared after the BMT as assessed by the abdominal CT scan. No cytological and chromosomal relapse has been observed for 20 months after the BMT.
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PMID:[An allogeneic bone marrow transplantation for chronic myelocytic leukemia with a large extramedullary tumor in the pelvic cavity]. 891 72

Sialidase (neuraminidase, EC 3.2.1.18) catalyses the hydrolysis of terminal sialic acid residues of glyconjugates. Sialidase has been well studied in viruses and bacteria where it destroys the sialic acid-containing receptors at the surface of host cells, and mobilizes bacterial nutrients. In mammals, three types of sialidases, lysosomal, plasma membrane and cytosolic, have been described. For lysosomal sialidase in humans, the primary genetic deficiency results in an autosomal recessive disease, sialidosis, associated with tissue accumulation and urinary excretion of sialylated oligosaccharides and glycolipids. Sialidosis includes two main clinical variants: late-onset, sialidosis type I, characterized by bilateral macular cherry-red spots and myoclonus, and infantile-onset, sialidosis type II, characterized by skeletal dysplasia, mental retardation and hepatosplenomegaly. We report the identification of human lysosomal sialidase cDNA, its cloning, sequencing and expression. Examination of six sialidosis patients revealed three mutations, one frameshift insertion and two missense. We mapped the lysosomal sialidase gene to human chromosome 6 (6p21.3), which is consistent with the previous chromosomal assignment of this gene in proximity to the HLA locus.
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PMID:Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis. 905 50

Six hundred million people are at risk of infection by Schistosoma mansoni. MHC haplotypes have been reported to segregate with susceptibility to schistosomiasis in murine models. In humans, a major gene related to susceptibility/resistance to infection by S. mansoni (SM1) and displaying the mean fecal egg count as phenotype was detected by segregation analysis. This gene displayed a codominant mode of inheritance with an estimated frequency of 0.20-0.25 for the deleterious allele and accounted for more than 50% of the variance of infection levels. To determine if the SM1 gene segregates with the human MHC chromosomal region, we performed a linkage study by the lod score method. We typed for HLA-A, B, C, DR and DQ antigens in 11 informative families from an endemic area for schistosomiasis in Bahia, Brazil, by the microlymphocytotoxicity technique. HLA-DR typing by the polymerase chain reaction with sequence-specific primers (PCR-SSP) and HLA-DQ were confirmed by PCR-sequence-specific oligonucleotide probes (PCR-SSOP). The lod scores for the different theta values obtained clearly indicate that there is no physical linkage between HLA and SM1 genes. Thus, susceptibility or resistance to schistosomiasis, as defined by mean fecal egg count, is not primarily dependent on the host's HLA profile. However, if the HLA molecule plays an important role in specific immune responses to S. mansoni, this may involve the development of the different clinical aspects of the disease such as granuloma formation and development of hepatosplenomegaly.
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PMID:Absence of linkage between MHC and a gene involved in susceptibility to human schistosomiasis. 969 72

We report on an 83-year-old male with chronic neutrophilic leukemia (CNL) associated initially with IgM monoclonal gammopathy and later with B cell chronic lymphocytic leukemia (CLL), in which the clone differed from that of the preceding monoclonal gammopathy. At initial presentation, the patient had hepatosplenomegaly, leukocytosis (29100 x 10(6)/l) with an increase of mature neutrophils (83%), 20q- chromosomal abnormality, an increased leukocyte alkaline phosphatase score, elevated serum levels of vitamin B12 and uric acid, a low serum level of granulocyte colony-stimulating factor, and high serum IgM (1015 mg/dl: lambda type M protein). Thereafter, lymphocytosis developed gradually. Three years after the initial presentation, the patient had no serum M protein, but showed evidence of leukocytosis (36600 x 10(6)/l) with 20q- chromosomal abnormality and an increase of mature neutrophils (51%) and small lymphocytes (43.5%), CD5+/19+/20+/HLA-DR+ and surface membrane IgM+/D+/kappa+. Gene rearrangements of the immunoglobulin heavy and kappa light chains were also present. To our knowledge, this is the first reported case of CNL associated with CLL.
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PMID:Chronic neutrophilic leukemia associated with chronic lymphocytic leukemia. 971 72

A diagnosis of familial hemophagocytic lymphohistiocytosis (FHL) was established in an 18-month-old boy who presented with prolonged fever of unknown origin, severe pancytopenia, hepatosplenomegaly and hypofibrinogenemia. Serum levels of ferritin and soluble interleukin-2 receptor (SIL2R) were highly elevated, and the number of natural killer (NK) cells was markedly decreased. An allogeneic stem cell donor was neither found in the family nor in unrelated donor registries; however, an umbilical cord blood (UCB) donor request revealed a 5/6 HLA-matched UCB. After conditioning with busulphan 16 mg/kg body weight (BW), cyclophosphamide 120 mg/kg BW and etoposide (VP-16) 900 mg/m2 the patient received 19.6 x 10(7)UCB nucleated cells/kg BW. White blood count (WBC) reached 1.0 x 10(9)/l on day +45. Chimerism studies showed full and permanent hematopoietic and lymphopoietic engraftment on day +16. However despite full engraftment the patient still experienced two severe relapses of his disease after stem cell transplantation with the highest ferritin level in the range of 10 3967 microg/l (n = 7-142). NK cell function appeared only 6 months after UCB transplantation followed by a decrease of FHL markers and resolution of disease activity. This clinical outcome indicates that unless competent immunologic engraftment after transplantation is established, FHL is capable of relapsing even if complete three-lineage engraftment is achieved.
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PMID:Unrelated 5/6-locus matched umbilical cord blood transplantation in a 23-month-old child with hemophagocytic lymphohistiocytosis. 972 76

Allogeneic bone marrow transplantation (BMT) from an HLA-matched sibling appears to improve survival and diminish some of the physiologic derangements seen in children with mucopolysaccharidosis (MPS)-I (Hurler Syndrome), an inherited metabolic storage disease resulting from the lack of alpha-L-iduronidase enzyme activity. Death is usually expected in the first decade of life. Unfortunately, most patients lack an HLA-matched sibling donor and alternative donors have been identified for transplant. This study reports on a five-year median follow-up (range: 985-2,355 days) in 11 Hurler Syndrome patients who underwent allogeneic BMT from partially mismatched related donors (PMRDs). The median age was 20 months (range: 11-44 months). The overall survival rate was 64% (95% CI 34-94%). The overall graft failure rate (36%) was higher than reported with matched sibling BMT. All patients with sustained engraftment experienced improvement in physical manifestations, such as corneal opacity, gum and tongue hypertrophy, hepatosplenomegaly and joint mobility. Skeletal abnormalities, such as dysostosis-multiplex, were stabilized but not reversed. Some patients have continued to show decline in neuropsychometric testing, while others appear to stabilize and one has demonstrated improvement. Until better methods for replacing enzyme activity are developed, BMT from a matched sibling of alternative donors can be considered a viable intervention for Hurler Syndrome patients to achieve partial improvement or stabilization from the deterioration caused by substrate storage, particularly in minimally affected patients early in life.
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PMID:The use of partially HLA-mismatched donors for allogeneic transplantation in patients with mucopolysaccharidosis-I. 1008 24

To assess the abnormal T-cell expansion in chronic active Epstein-Barr virus infection (CAEBV), T-cell antigen receptor (TCR) repertoire was analyzed in four patients with the disease. All fulfilled the diagnostic criteria of CAEBV, presenting with fever, hepatosplenomegaly, cytopenia, abnormal high titers of anti EBV-antibodies, and positive EBV genome of unknown cause. Southern blotting probed with EBV-terminal repeats and TCR Cbeta gene indicated clonal expansion of the infected cells in 3 and 2 patients, respectively. The number of CD4+ HLA-DR+ cells appreciably increased in patients 1 (59%) and 2 (24%), who had a coronary aneurysm and central nervous system involvement, respectively. TCR gene expression examined by the inverse polymerase chain reaction methods revealed that Vbeta gene usages were preferential in all patients (Vbeta7 and Vbeta12: patient 1, Vbeta4: patient 2, Vbeta13: patients 3 and 4), compared with those in healthy controls. Valpha18 gene expression was remarkably high in patients 1 and 2. Moreover, Jbeta gene expression was skewing in the reigning Vbeta clones in all patients. Vbeta4-Jbeta1.5 and Vbeta13-Jbeta1.5 genes were clonally expressed in patients 2 and 4, respectively. These results suggest that CAEBV is associated with the restricted diversity of T-cells, which may stem from the sustained expansion of oligoclonal T-cells possibly driven by conventional viral antigens, but not, superantigens. Although the study is limited by the small number of patients, the unbalanced T-cell repertoire might contribute to the evolution of T-lymphoproliferative disease, otherwise, imply the innate defective immunity to EBV in CAEBV patients.
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PMID:Restricted diversification of T-cells in chronic active Epstein-Barr virus infection: potential inclination to T-lymphoproliferative disease. 1033 8

Bone marrow transplantation (BMT) has been used for a wide variety of lysosomal storage diseases with encouraging results. We report a 3-year 5-month-old girl with Niemann-Pick type C disease (NPC) who received an allogeneic BMT. The patient presented with repeated lower respiratory tract infections, hepatosplenomegaly, failure to thrive, and developmental delay. Chest computed tomography (CT) revealed diffuse interstitial lung infiltration. Bone marrow and liver biopsies revealed abundant lipid-filled foamy macrophages. Skin fibroblast sphingomyelinase assay revealed partial deficiency. The ability of her skin fibroblasts to esterify cholesterol was very low, and the cells stained brightly for free cholesterol. She received BMT from a healthy HLA-identical male sibling donor at the age of 2 year 6 months. Full engraftment was evidenced by repeated bone marrow sex chromosome studies. Regression of the hepatosplenomegaly, markedly reduced foamy macrophage infiltration in bone marrow, and decreased interstitial lung infiltration was noted 6 months after BMT. Her neurological status, however, deteriorated. Follow-up magnetic resonance image (MRI) revealed progressive, diffuse brain atrophy. We conclude that resolution occurred in the liver, spleen, bone marrow and lung following successful engraftment. Such a response is remarkable since the underlying problem involves a membrane receptor for cholesterol. This positive response might be due to replacement of the monocyte-phagocytic system or it may imply the existence of cross-correction in the NPC membrane receptor defect by BMT approach. Since BMT did not halt the neurological deterioration, it is unlikely to be an adequate treatment for NPC.
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PMID:Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation. 1043 44

We report a unique case of brucellosis transmitted by BMT. An 8-year-old boy with the diagnosis of Fanconi's anemia received an allogeneic BMT from his HLA-identical sibling. Routine culture from the infused marrow suspension grew Brucella abortus on day +4 post BMT. Spiking fevers occurred on days +2 and +16. The first febrile episode responded to broad-spectrum antibiotic therapy. However, the second episode did not. B. abortus was isolated from blood cultures taken during the second febrile episode. The Brucella agglutination titer was negative. Antibiotic therapy with oral doxycycline and i.v. gentamycin was successful with no recurrence of infection during 13 months of follow-up. The donor's blood culture was also positive for B. abortus and Brucella antibodies were detectable at 1:320 titer when he presented with fever and hepatosplenomegaly on day +32. We emphasize the need to consider brucellosis in patients undergoing BMT. We suggest that donor and recipient be evaluated for brucellosis especially in countries where the incidence of this infection is relatively high.
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PMID:Brucellosis transmitted by bone marrow transplantation. 1091 36

Severe Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI) is usually fatal by early adulthood. Bone marrow transplantation is the only form of definitive enzyme replacement therapy available. A 5-year-old boy with Maroteaux-Lamy syndrome has successful recovery of bone marrow and enzymatic functions after umbilical cord blood transplant from his unaffected HLA-identical brother. Busulphan (16 mg/kg) and cyclophosphamide (200 mg/kg) were used as preparative chemotherapy with short methotrexate and long cyclosporin as prophylaxis against graft-versus-host disease (GVHD). A total of 6.08 x 10(7)/kg nucleated cells and 2.92 x 10(5)/kg CD34+ cells were transplanted with neutrophil engraftment achieved on day 26. There was no evidence of acute and chronic GVHD. Fifteen months after transplant, a normal level of N-acetylgalactosamine-4-sulphatase activity was achieved despite mixed chimerism. There was clinical improvement of hepatosplenomegaly, facial and skin features, joint mobility and resolution of suppurative middle ear effusion. He returned to school and continued to perform well in academic studies. We report here the first successful umbilical cord blood transplant as treatment of Maroteaux-Lamy syndrome.
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PMID:Umbilical cord blood transplantation for Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). 1098 95


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