Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fourteen children, 4 males and 10 females, with malignant histiocytosis (MH) were treated between July 1980 and June 1986. None of them had an affected sibling with a similar disorder. Septic-type fever was the most prominent symptom in all cases. Hepatosplenomegaly was present in 13 cases, lymphadenopathy, skin rash and jaundice in 8, pulmonary infiltration or pleural effusion on chest X-ray in 8, convulsion in 6, and renal involvement in 5 out of the 14 cases. Disseminated intravascular coagulation (DIC) was seen in 13 cases and this occurred within two weeks from onset in 6 cases. Pancytopenia, abnormal results of liver function tests, hypofibrinogenemia and hypocholesterolemia were common. The diagnosis was made for all 14 cases by characteristic clinical symptoms, signs, and bone marrow findings. In 8 cases, biopsy or autopsy specimens confirmed the diagnosis. Two patients died prior to chemotherapy. Twelve patients were treated with adriamycin, cyclophosphamide, vincristine and prednisone (ACOP). Complete response (CR) was achieved in five patients, and another two patients attained CR after subsequent treatment with other combinations including VP 16-213. These 7 complete responders are now alive and free of disease 11+ to 70+ months (median, 50+ months) from the onset of disease. All partial and non-responders died within 6 months with a median survival of 20 days. Among several clinical features as prognostic indicators, renal involvement, convulsion, and DIC occurring within 2 weeks were significantly related to poor outcome. Although MH is an aggressive disease with a poor prognosis, prompt diagnosis and early treatment with intensive systemic combination chemotherapy should further improve the outcome.
 ...
PMID:[Clinical features and therapeutic results in 14 cases of malignant histiocytosis in childhood]. 380 Apr 4

Chediak-Higashi (C.H.S.) syndrome is a rare immunodeficiency, due to defective granulocyte activity. The syndrome is characterized by large inclusion bodies in the leukocytes, albinism, photophobia, nystagmus, and recurrent infections. Some patients develop hepatosplenomegaly, lymphadenopathy, pancytopenia and widespread organ infiltrates with mononucleated cells. This phase is called "accelerated (or lymphoma-like syndrome) phase". A 5 years old girl with C.H.S. in accelerated phase received initially medical treatment without improvement. A splenectomy was performed to remove the hypersplenism and the mechanical compression of the spleen on the gut. Few days after the splenectomy the fever and the pancytopenia disappeared. The pathological examination of the spleen showed multiple intraparenchymal abscesses. Unfortunately, six months after the operation, she died after an acute episode of pneumonia, with normal hematological pattern. The splenectomy may play a role in the "accelerated phase" of C.H.S., but new treatments (bone marrow transplantation) are necessary to remove the basic disease.
 ...
PMID:[Role of splenectomy in Chediak-Higashi syndrome in its accelerated phase]. 383 24

Familial erythrophagocytic lymphohistiocytosis, a rare disorder affecting infants, is characterized by a visceral infiltration of histiocytes and lymphocytes resulting in rapid death. It has recently been reported that use of epipodophyllotoxin, VP 16-213, could induce a complete remission of the disease. Such treatment does not, however, prevent fatal CNS relapse. Four patients with the characteristic features of the disease--fever, hepatosplenomegaly, pancytopenia, low plasmatic fibrinogen level, hyperlipidemia, and histiocytic meningitis--are described. These patients were treated with a combination therapy including systemic administration of VP 16-213, steroids, and intrathecal methotrexate followed by cranial irradiation after the age of 12 months. The four patients achieved complete remission of the disease after clearing of the CNS localization. Two patients had secondary relapses, but all four patients have had a disease-free survival exceeding 12 months. All patients have been in remission of the disease for 27, 20, 16, and 13 months, respectively, after disease onset without major setbacks from the treatment. This combination therapy appears to be a promising approach toward long-term remission of the disease.
 ...
PMID:Treatment of four patients with erythrophagocytic lymphohistiocytosis by a combination of epipodophyllotoxin, steroids, intrathecal methotrexate, and cranial irradiation. 383 78

A 36-year-old woman, presenting with fever, pancytopenia, hepatosplenomegaly, and striking effacement of the bone marrow by true malignant histiocytes, was found to have no benefit from the systemic administration of cyclophosphamide, vincristine sulfate, doxorubicin, prednisone, and high-dose methotrexate with calcium leucovorin rescue. Striking histologic and clinical improvement was noted after the administration of two cycles of etoposide and amsacrine, each cycle consisting of 100 mg/sq m/day of each agent for five days. We believe that this therapy should be considered for future patients demonstrating aggressive presentations of malignant histiocytosis.
 ...
PMID:Malignant histiocytosis resistant to anthracycline. Response to intensive treatment with etoposide and amsacrine. 387 45

Spleen cell suspensions of 2 dialysis patients with hepatosplenomegaly and pancytopenia were studied in vitro. Spleen cells of a cadaver kidney donor were studied as control. In spleen macrophages of the patients, silicone particles could be demonstrated with TEM and electron microprobe analysis. Under basal conditions and after stimulation with zymosan and concanavalin A, release of PGE2, TXB2 and 6-keto-PGF1 alpha from patient cells was higher than control cells. This anecdotal observation parallels previous animal studies and suggests that loading of human macrophages with foreign material particles activates arachidonic acid metabolism.
 ...
PMID:Evidence for macrophage activation in dialysis patients exposed to silicone filing. 398 82

Cytochemical studies were performed on peripheral blood from 30 patients with type 1 Gaucher disease. In 29 of the patients, peripheral blood monocytes stained positively for tartrate-resistant acid phosphatase, whereas monocytes from 18 normal individuals and 14 patients with monocytosis did not. In the Gaucher patients, the percentage of monocyte positivity for tartrate-resistant acid phosphatase ranged from 2 to 97. There was no correlation between the percent monocyte staining and the degree of disease severity, as measured by hepatosplenomegaly, pancytopenia, or extent of bone disease, for the group as a whole. In Gaucher patients who had not undergone splenectomy, however, there was a significant correlation between percent monocyte staining and the degree of hepatosplenomegaly, anemia, and thrombocytopenia. The presence of tartrate-resistant acid phosphatase may be secondary to the lysosomal accumulation of glucosyl ceramide within these monocytes, although this remains to be confirmed. If so, these circulating cells may represent precursors of the Gaucher cells in tissues. Tartrate-resistant acid phosphatase staining of peripheral blood monocytes may be useful as a diagnostic marker for Gaucher type 1 disease and for further studies on the pathogenesis of the disease.
 ...
PMID:Tartrate-resistant acid phosphatase staining of monocytes in Gaucher disease. 401 24

An autopsied case of acute megakaryoblastic leukemia is described in a 20 months old, Japanese female infant with Down's syndrome. She presented spontaneous remission of transient abnormal myelopoiesis in her neonatal period, which was followed by acute megakaryoblastic leukemia 1 year later. The clinical picture of acute megakaryoblastic leukemia was initially characterized by peripheral pancytopenia with a few blasts, the absence of hepatosplenomegaly, but ended in overt leukemia characterized by increase of blasts, marked hepatosplenomegaly, and elevated LDH. She died 6 months after the onset at 20 months of age. Autopsy findings revealed widespread leukemic infiltration comprised of megakaryoblasts and megakaryocytes, and extramedullary tumors in the left tibia, the liver, both kidneys, and the endocardium of the heart. Identification of the megakaryocytic cell line was performed in immunohistochemistry and electron microscopy. Chromosomal analyses of peripheral blood disclosed 47, XX, +21, in her neonatal period but disclosed 48, XX, +G, +G, in acute megakaryoblastic leukemia.
 ...
PMID:Transient abnormal myelopoiesis followed by acute megakaryoblastic leukemia with extramedullary tumors. An autopsied case of Down's syndrome. 622 8

Two pediatric patients with life-threatening Epstein-Barr virus infections were studied immunologically and treated with acyclovir [9-(2-hydroxyethoxymethyl) guanine]. The patient with chronic active Epstein-Barr virus infection who experienced massive hepatosplenomegaly, pancytopenia, and failure to thrive demonstrated abnormalities of T and B lymphocytes. A second patient, with the X-linked lymphoproliferative syndrome, experienced a rapidly fatal course of acute Epstein-Barr virus infection which typifies this yet undefined immunodeficiency to Epstein-Barr virus. In each case, objective evidence for clinical improvement or antiviral effect of acyclovir treatment was not apparent. Abnormally productive Epstein-Barr virus infections did not appear to play a major role in the clinical syndromes observed. Current studies are focused on treatment of immunologically normal patients with early complicated Epstein-Barr virus infection.
 ...
PMID:Treatment of life-threatening Epstein-Barr virus infection with acyclovir. 628 18

Familial hemophagocytic lymphohistiocytosis (FHL) is probably a genetically transmitted disease affecting infants and very young children. Cardinal symptoms are fever, hepatosplenomegaly, and pancytopenia. Frequently meningeal involvement is seen, manifested by neurologic symptoms and a lymphohistiocytic pleocytosis with increased protein levels in the cerebrospinal fluid. Characteristic laboratory findings in FHL are hypertriglyceridemia and hypofibrinogenemia, which are reversible with treatment. The disease has been rapidly fatal in most patients, but recently longterm remissions have been achieved with cytotoxic agents. Pathohistologic examination shows a widespread infiltrate of lymphocytes and mature macrophages with prominent hemophagocytosis affecting especially liver, spleen, lymph nodes and the central nervous system. Atrophy of the lymphatic tissue is a common finding. From the histologic picture FHL has to be grouped among the histiocytoses of reactive origin since the cells involved show no signs of malignancy. The etiology and pathogenesis of FHL are not known at present. Immunologic studies present evidence for a disturbed function of T lymphocytes, but a secondary immune defect seems to be more likely than primary immune deficiency. Among the broad clinical spectrum of histiocytic disorders especially histiocytic reactions due to infection, histiocytosis X and malignant histiocytosis have to be considered in the differential diagnosis of FHL.
 ...
PMID:Familial hemophagocytic lymphohistiocytosis. 635 20

Histiocytic medullary reticulosis (HMR) was originally defined as a neoplastic disorder. Some cases reported as HMR have been characterized by a systemic proliferation of mature histiocytes showing hemophagocytosis, bone marrow necrosis, pancytopenia, hepatitis, and coagulopathy. Clinically, these patients have fever and constitutional symptoms and often have hepatosplenomegaly and lymphadenopathy. Although there is a high mortality rate, this process appears to be reactive and has been associated with active viral infection. Similar cases have been briefly described that were associated with other agents or disease processes, but concomitant viral infections were not excluded. Three characteristic examples of this hemophagocytic syndrome that were associated with bacterial sepsis are described. Active infection by those viruses that have previously been associated with the syndrome was excluded. It appears that the hemophagocytic syndrome may be associated with various types of active disseminated infections.
 ...
PMID:Bacteria-associated hemophagocytic syndrome. 649 70


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>