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 newborn infant presented with hepatosplenomegaly, rash, anemia, and leukocytosis at one day of age and manifested characteristic myeloid metaplasia by one mouth of life. Vitamin B12 and leukocyte alkaline phosphatase were elevated and platelet aggregation was impaired. Myelofibrosis was not present and neutrophil function was preserved. An unidentified high isoelectric point hemoglobin with unusual chromatographic and electrophoretic behaviors was found to comprise 12% of the total hemoglobin. The myeloid metaplasia and mutant hemoglobin disappeared over the subsequent months without biochemical or clinical residual. The available evidence was consistent with the mutant hemoglobin representing either a gamma chain or clonal embryonic chain variant. The inability to clarify prognostic factors in these unusual myeloproliferative syndromes suggests caution in the initiation of cytotoxic therapy.
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PMID:Transient myeloid metaplasia associated with an unusual hemoglobin in a newborn infant. 9 73

Myeloproliferative disease of childhood is frequently associated with chromosomal anomalies, usually of the C group. Clinical features are similar to those of the juvenile type of chronic myeloid leukemia. A child with this disease is described. Marked myeloid proliferation, anemia, thrombocytopenia and hepatosplenomegaly were present; leukocyte alkaline phosphatase and fetal hemoglobin were moderately elevated. Chromosome analysis of bone marrow cells revealed a mosaicism 47,XX,+21/46,XX. Down's syndrome was ruled out by the child's normal phenotype and dermatoglyphic analysis. The cytogenetic finding is probably evidence for the clonal origin of the trisomy 21 cell line.
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PMID:Myeloproliferative disease of childhood associated with a trisomy 21 clone. 11 7

The effect of polytransfusion regimen is studied in two patients with thalassaemia major over a period of 74 and 56 months respectively. In both cases we have observed an improvement of the general condition in the growth as well as a reduction of hepatosplenomegaly and cardiomegaly. Furthermore a decrease of reticulocytes, erythroblasts and fetal hemoglobin values was obtained. The consequences of these frequent transfusions on iron storage metabolism are discussed. The advantage of giving HLA compatible blood is demonstrated by only a weal alloimmunization in one patient having received 77 HLA compatible transfusions and the lack of immunization in the second patient after 52 transfusions. In 6 other patients affected with thalassaemia major and 3 more with bone marrow aplasia, transfusion with incompatible HLA blood was followed by immunization of variable importance.
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PMID:Multiple transfusions of HLA compatible blood in thalassaemia major. 63 9

The data of 140 patients with polycythemia vera during the period 1955--1975 were analyzed with regard to clinical signs and prognosis. The average age was 53,4 years. The sex ratio was 1.9:1 in favor of men. The most frequent symptoms were headache and vertigo. In more than half of the cases hepatosplenomegaly and hypertension were found. Besides typical changes in the blood count with elevated erythrocytes, hemoglobin, hematocrit, leukocytes and thrombocytes, increased levels of alkaline leukocyte phosphatase and uric acid were found. As to therapy, after 32P-medication the survival was two years longer than after phlebotomy. In 9 patients osteomyelofibrosis developed, and in 7 cases chronic myeloic leukemia. The mean age of death was 61 years.
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PMID:[Polycythemia vera, clinical aspects and disease course]. 64 97

Mucopolysaccharidoses (MPS) are inherited disorders of lysosomal enzymes. We have examined the sites of accumulation of intravenously injected 99mTc-sulfur colloid in order to assess the regional distribution of phagocytic function in ten patients with MPS: three with Type VI (Maroteaux-Lamy). Increased lung uptake was observed in 22 of 40 studies (55%) on the five patients with MPZ Type II but in none of the 38 studies on patients with other MPS types. All MPS patients had diffuse recticuloendothelial (RE) marrow hypoplasia, despite normal or nearly normal hematocrits and hemoglobin levels, suggestion dissociation of the phagocytic and erythropoietic elements of the marrow. The eight patients with MPZ Types I and II all had hepatomegaly and increased splenic uptake. Seven of these patients with MPS Types III and VI did not have hepatosplenomegaly. These studies indicate that the lysosoma enzymic defect of MPS results in widespread abnormalities of the distribution of phagocytic function in the liver, spleen, bone marrow, and probably the lung as well.
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PMID:Widespread abnormalities of radiocolloid distribution in patients with mycopolysaccharidoses. 81 May 47

Physiological tests of work performance and measurement of field productivity were made in 194 Sudanese cane cutters in order to study the effect of Schistosoma mansoni infection. The cane cutters were selected from two age ranges (16-24 and 25-45 years) and subdivided into three clinical groups: not infected, infected with, and infected without clinical signs of hepatosplenomegaly. Men infected with Schistosoma haemotobium, malaria (blood film), or with hemoglobin levels less than 10 g/100 ml were excluded. There was a statistically significant (P less than 0.002) higher mean hemoglobin concentration in those not infected but the mean difference was less than 1 g/100 ml. Submaximal responses to exercise on a stationary bicycle ergometer, oxygen intake, ventilation, tidal volume, cardiac frequency and estimated maximal aerobic power output calculated both in absolute terms and relative to lean body mass and leg volume were similar in the six groups of cane cutters. No significant differences were found in physique, body composition or in thermoregulatory function tests. The cane cutters were found to have little natural acclimatization to heat in terms of sweating capacity when compared with a group of fully acclimatized Sudanese soldiers. The mean productivity (mean daily weight of cane cut per man) was significantly correlated with the individual's estimated maximum aerobic capacity determined in the laboratory, but not with the degree of S. mansoni infection. The noninfected group was less "efficient" (mean productivity:oxygen intake) during cutting than the infected groups but a larger proportion of the noninfected were in their first season of cutting. There was a positive correlation between the number of seasons' cutting experience and the individual's age, degree of infection and mean productivity. Cane cutters studied in this investigation were a relatively fit, active population from whom the more seriously ill were excluded. These results do not, therefore necessarily reflect the effects of S. mansoni on physiological work capacity and productivity of more static populations in areas of high endemicity.
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PMID:Physiological performance and work capacity of Sudanese cane cutters with Schistosoma mansoni infection. 93 32

One hundred and ten children with hemoglobin H (Hb H) disease who attended the hematology unit of the Department of Pediatrics at Songklanagarind Hospital from 1982 to 1988 were studied. Hb Constant spring (Hb CS) was found in 55 patients. Four patients, two with Hb CS, were diagnosed during the newborn period. Anemia and jaundice were the main symptoms in three neonates, while the fourth one was found to have anemia with hepatosplenomegaly. Nine infants were diagnosed in the first year of life with the chief symptoms of anemia with or without fever. Two of them needed blood transfusions. Hb H was found in only three infants, while Hb Bart's was the constant finding in every infant. The Hb H children with Hb CS had a more severe clinical course than the group without Hb CS. The levels of Hb at steady state were found to be lower and the reticulocyte counts, red cells with inclusion bodies and Hb H were higher in patients with Hb CS. The clinical picture of acute hemolysis in Hb H children can be found in the neonatal period and the difference in clinical severity between the two genotypes of Hb H disease seems to develop from the first year of life.
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PMID:Hemoglobin H disease in children. 130 83

A 60-year-old man was admitted with general fatigue and jaundice of one year's duration in February, 1981. The hemoglobin (Hb) was 11.4 g/dl and reticulocytes were 1.7%. A diagnosis of chronic cold agglutinin disease (CCAD) was made from the presence of cold agglutinin (CA) 1:2,048, increased serum IgM 267 mg/dl and indirect bilirubin 1.4 mg/dl. His Hb was approximately 11 g/dl in summer and 9 g/dl in winter for the subsequent ten years without therapy. In July, 1990, he was readmitted because of exacerbation of anemia and hepatosplenomegaly. The Hb was 4.6 g/dl, indirect bilirubin 3. 1 mg/dl, CA titer 1:232,144 and reticulocytes were 20%. Serum IgM was 1,065 mg/dl, and immunoelectrophoresis showed IgM-kappa M-protein. Peripheral blood lymphoid cells expressed surface membrane immunoglobulin (SmIg) M and kappa. The bone marrow showed an increased number of lymphoid cells which also expressed SmIg M and kappa. These findings were compatible with those of the features of primary macroglobulinemia (PMG). The M-2 protocol resulted in decrease in serum IgM and CA, but he died of heart failure in February, 1991. The relationship between CCAD and PMG in relation to the pathogenesis was discussed.
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PMID:[Chronic cold agglutinin disease terminating in primary macroglobulinemia after a 10 year history]. 146 90

Localized plasma cell type Castleman's disease (CD) is an unusual pathologic entity. It is frequently associated with clinical and laboratory characteristics and rarely occurs in children. Total surgical excision results in cure in all aspects. To make early diagnosis of mesenteric CD is not easy, especially for children. An 11-year-old Taiwanese boy was recently evaluated for anemia and delayed growth. His clinical findings included a syndrome of severe hypochromic microcytic anemia, neutropenia, thrombocytosis, hypoferremia, hypergammaglobulinemia, and growth failure. Radiological examinations (abdominal ultrasound, small intestinal series, and computerized tomography) identified hepatosplenomegaly, nephromegaly, and huge masses in the middle abdomen with precaval, celiac, and paraaortic lymph nodal enlargement. However, detailed physical examination failed to detect a mass. At laparotomy a double-fist-sized confluent mass was found arising from the mesenteric root. Most masses were discrete and were excised individually. The pathologic diagnosis was plasma-cell type angiofollicular lymph node hyperplasia (Castleman's disease). Seven weeks after surgery, he had an episode of acute hepatitis B. Postoperatively, he exhibited a dramatic growth spurt; the hemoglobin, red blood cell indices, serum iron, and immunoglobulins returned to normal in 2 months. Neutropenia, which has not been previously related to mesenteric CD, was an unexpected finding in our case; however, it resolved spontaneously 3 months after the surgery, suggesting its causal relationship with the tumor.
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PMID:New observations in a child with angiofollicular lymph node hyperplasia (Castleman's disease) originated from the mesenteric root. 151 Jan 96

The t(9;11)(p21;q23) has been associated with characteristic clinical features and a superior treatment outcome in previously untreated pediatric acute myeloblastic leukemia (AML), but has not been well studied in children with secondary AML. This translocation was detected in 6.7% of de novo and 46% of secondary AML patients treated at St Jude Children's Research Hospital over an 11-year period. Clinical, immunophenotypic, and morphologic characteristics were examined for the cases of t(9;11) secondary AML (n = 12) and compared with findings for children with t(9;11) de novo AML (n = 12). Patients with t(9;11) secondary AML were older at diagnosis, had higher hemoglobin levels, and central nervous system leukemia or hepatosplenomegaly was less frequent. These differences probably reflect survival of the first malignancy and close clinical scrutiny during post-treatment follow-up. Whereas the t(9;11)(p21;q23) occurred exclusively in the French-American-British (FAB) M5 subtype in de novo AML, the FAB M0 and M4 subtypes were also represented in secondary cases. The complete remission rate was somewhat higher for the de novo AML group (91 vs 58%; p = 0.16); their event-free survival was clearly superior to that for children with t(9;11) secondary AML (p = 0.003). Host differences related to the previous malignancy or its treatment could explain the poorer clinical outcome for patients with t(9;11) secondary AML. Alternatively, there could be critical differences at the translocation site or additional, hidden molecular events, that explain the different outcomes.
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PMID:Translocation t(9;11)(p21;q23) in pediatric de novo and secondary acute myeloblastic leukemia. 160 90


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