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)

Wolman disease and cholesteryl ester storage disease (CESD) are caused by a deficiency of lysosomal acid lipase activity, resulting in massive accumulation of cholesteryl ester and triglycerides. Wolman disease occurs in infancy, with hepatosplenomegaly, steatorrhea and adrenal calcification. It is fatal before the age of 1 year. In CESD, hepatomegaly may be the only clinical abnormality, although lipid deposition is widespread. Lysosomal acid lipase hydrolyzes both triaclyglycerols and cholesteryl esters, and the enzyme plays an important role in the cellular processing of plasma lipoproteins, and contributes to homeostatic control of lipoprotein levels in blood and prevention of cellular lipid overloading. The gene encoding lysosomal acid lipase was cloned and characterized in 1994, and two mutations of acid lipase gene were found in a patient with Wolman disease, as a compound heterozygote. It is suggested that structural gene defects are also present in CESD cells. However, the reason (s) for the clinical difference between Wolman disease and CESD remain (s) to be studied.
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PMID:[Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease]. 857 49

210 fishermen and 210 farmers from two Egyptian villages (Gharbia Governorate) were selected. Their main clinical manifestations were terminal haematuria in 17.1% and 10%, dysuria in 16.7% and 6.7%, renal colic in 13.3% and 2.4%, dysentery in 10.5% and 3.8%, bloody stool in 8.1% and 2.9%, pallor in 28.8% and 15.2%, hepatomegaly in 10.5% and 4.3% and splenomegaly in 8.6% and 3.8% in fishermen and farmers respectively with significant values among fishermen when compared with farmers. Abdominal ultrasonography of fishermen showed higher morbidity rates than farmers as regards hepatosplenomegaly, grades of periportal fibrosis, portal vein diameter, stones in Kidneys and urinary bladder as well as calcification of urinary bladder. S. mansoni prevalence was 72.4% in fishermen and 4.57% in farmers with highly significant value in fishermen when compared with farmers (P < 0.01). Geometric egg count (gm/stool) was 430 +/- 259 and 236 +/- 161 in fishermen and farmers respectively with highly significant difference (P < 0.001). All urine samples were negative for S. haematobium. The socioeconomic status of all individuals showed no significant difference between the two groups. It was concluded that fishermen had a higher S. mansoni prevalence, infection intensity and morbidity than farmers. This may be due to more water contact activities. A snail population survey of the river and main canals was recommended.
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PMID:Prevalence and morbidity of schistosomiasis among rural fishermen at two Egyptian villages (Gharbia Governorate). 858 60

The objective of this study was to evaluate the treatment outcome of children with acute leukemias at a university hospital in Singapore. Between January 1988 and January 1994, 66 children were treated, comprising 13 cases of acute myeloid leukemia (AML) and 53 acute lymphoblastic leukemia (ALL). The 2-year disease-free survival (DFS) was computed according to the Kaplan-Meier method. The results showed that the survival of AML was poor, with a 2-year DFS of only 30%. The major cause of death for AML was leukemia and leukemia-related complications, such as hemorrhage and severe infections. In contrast, a 62% 2-year DFS was achieved for ALL. It was found that marked hepatosplenomegaly (enlarged liver and/or spleen > or = 10 cm below the costal margin) at presentation correlated with a significance shortened survival in our patients with ALL. The major cause for treatment failure in ALL was recurrence of disease. We conclude that the DFS for our patients with ALL at 2 years was fair. The treatment results for AML were poor, but the numbers are too small to make any definite conclusions.
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PMID:Survival of childhood leukemia in Singapore. 861 64

The case of a 7-year-old boy with virus-associated hemophagocytic syndrome (VAHS) and serologically proven parvovirus B-19 infection is described. The patient with VAHS presented with fever, hepatosplenomegaly, pancytopenia, and hyperlipidemia type IV. After induction therapy with VP-16 and prednisone, partial remission was achieved. Despite maintenance therapy, reinductions, and the addition of cyclosporine A for 3 months, several relapses occurred. The therapy was stopped because of life-threatening complications (Klebsiella sepsis, neutropenic enterocolitis, and stercoral peritonitis). The complications were treated successfully. The patient status was stabilized after splenectomy. However, hepatomegaly progressed slowly and the hyperlipidemia endured. Ten months after the diagnosis leukocytosis with absolute T lymphocytosis appeared. Reactivation of VAHS was suspected and intravenous immunoglobin and then antilymphocyte immunoglobulin ALG therapy were started. The resultant decrease in leukocytosis was prompt, but lymphopenia did not occur. Virostatic treatment with foscarnet was introduced based on human herpesvirus-6 seroconversion. Twenty-six months after the diagnosis, the patient is well, without any sign of VAHS or lymphoproliferation.
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PMID:Infection-associated hemophagocytic syndrome complicated by infectious lymphoproliferation: a case report. 872 Oct 28

We reported a case of Crow-Fukase syndrome and examined the mechanism of hepatomegaly in Crow-Fukase syndrome. A 67-year-old woman was presented with polyneruopathy, hepatosplenomegaly, pericardial effusion and M proteinemia. On examination, all laboratory data and clinical symptoms were compatible with Crow-Fukase syndrome. The patient was treated with prednisolone and immunoadsorption plasmaphresis therapy. All the clinical manifestations including hepatomegaly gradually improved. In order to examine whether some factors that promote the prolifelation of hepatocyte may exist in the patient's serum, we cultured mouse hepatocyte in the presence of patient's or control serum together. Though the number of hepatocytes decreased after 2 days culture, the number of hepatocytes cultured with patient's serum in active disease stage remained significantly greater than of hepatocytes cultured with either control serum or patient's serum in healing stage. There were no abnormal pathological findings in biopsied liver. Liver suggesting that hepatomegaly was the results of normal hepatocytes proliferation. Taken together, these findings suggest there were some factors that may promote the proliferation of hepatocytes or may have protective effect of hepatocyte in patient's serum. Though the level of human hepatocyte growth factor (h-HGF) in patient's serum in active disease stage was slightly increased, hepatomegaly cannot be attributable solely to h-HGF. Organomegaly is one of the important symptoms of the Crow-Fukase syndrome, however, in so far as we are aware its mechanism is not examined. In this report it is suggested that several unknown factors other than h-HGF may contribute the hepatomegaly of the Crow-Fukase syndrome.
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PMID:[The detection of factors that may promote the hepatocyte proliferation in the serum of a patient with crow-fukase syndrome]. 885 11

We studied 14 adult patients presenting with fever and cytopenia of the peripheral blood and histiocytic hyperplasia with hemophagocytosis (HHH) in the bone marrow regarding an association of cytomegalovirus (CMV) and Epstein-Barr virus (EBV) by using in situ hybridization (ISH) and also evaluated the clinical and laboratory findings according to the encountered organisms. ISH using a CMV RNA probe demonstrated infected cells in 6 out of 14 cases (43%), and ISH using an EBV EBER RNA probe demonstrated infected nuclei in 5 out of the same 14 cases (36%) of HHH. No cases showed a positive reaction with both probes. Three cases showed a negative reaction with both probes. The mean age of all patients was 29 years; and that of the CMV-positive patients was 27 years and that of the EBV-positive patients was 36 years. Organomegaly was found in 3 out of 6 CMV-positive patients (1 hepatomegaly, 1 splenomegaly, 1 hepatosplenomegaly), and 4 out of 5 EBV-positive patients (lymphadenopathy in all 4 cases, hepatosplenomegaly in 2 cases). One of the CMV-positive case had acute myeloblastic leukemia, and 2 EBV-positive cases had underlying malignancy (1 Hodgkin's disease, 1 non-Hodgkin's lymphoma). Seven out of the 14 HHH cases (50%) died within several months after diagnosis. Nucleic acid hybridization methods can be used for the routine examination of the association of CMV or EBV.
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PMID:In situ hybridization studies of cytomegalovirus and Epstein-Barr virus in reactive histiocytic hyperplasia with hemophagocytosis. 887 10

We prospectively studied 50 Vietnamese patients with blackwater fever (BWF). All patients had fever and hemoglobinuria, 40 (80%) were jaundiced, 25 (50%) had hepatomegaly, 15 (34%) had splenomegaly, and 9 (18%) had hepatosplenomegaly. Twenty-one patients (42%) had impaired renal function, with creatinine clearances of < 50 mL/min/m2; however, only four (8%) developed oliguric renal failure, three (6%) of whom required dialysis. Forty-four patients (88%) developed anemia, which was severe (hematocrit, < 20% in 32 (64%). One patient died, representing a death rate for this once-feared disease that is considerably lower than that reported by earlier investigators. BWF was associated with quinine ingestion in 28 patients (56%), glucose-6-phosphate dehydrogenase (G6PD) deficiency in 27 (54%), and concurrent malaria infection in 16 (32%). There was no statistically significant difference in the severity of BWF associated with each of these three factors, as assessed by creatinine clearance and the hematocrit value on admission and by the number of units of blood transfused. There was considerable overlap in the occurrence of G6PD deficiency, quinine ingestion, and malaria, suggesting that these factors may interact and that it may not be justifiable to regard hemoglobinuria caused by G6PD deficiency as a separate syndrome.
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PMID:Blackwater fever in southern Vietnam: a prospective descriptive study of 50 cases. 940 15

A case of Armillifer agkistrodontis disease was reported. Armillifer agkistrodontis is a species of the Armillifer genus of the Linguatulida order and parasitizing agkistrodon acutus. According to literature reviewed, there has been no report of this disease caused by infection of Armillifer agkistrodontis in human being prior to this case all over the world. The clinical features of this disease are long-term high fever, abdominal pain, diarrhea, mild anemia, hepatosplenomegaly, eosinophilia in bone marrow and blood and multiple polyps in the whole colon. The pathologic features of the liver biopsy was degeneration and necrosis of hepatocytes and obvious infiltration of eosinophils. This disease should be differentiated from several other diseases which can also cause hepatomegaly, long-term high fever, abdominal pain and diarrhea. Mebendazole is an effective medication for this disease, but the long term effect of praziquantel is not certain. It is necessary to make further studies on the epidemiology, etiology, pathology, natural history, clinical features, diagnosis, differential diagnosis and therapy of this disease.
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PMID:[Armillifer agkistrodontis disease: report of case]. 959 42

A study of health status of Orang Asli population (based on physical examination findings) was conducted in 4 villages in Pos Piah, Sungai Siput Perak, Malaysia. In all 356 individuals between 4 months-72 years old (178 males and 178 females) participated in this study. Poor general health status, physical and mental handicaps were seen in 7.8%, 0.3% and 0.3% of the population, respectively. About one-fifth of the population had dental caries. Splenomegaly, hepatomegaly and hepatosplenomegaly were among the commonest abnormalities with the occurrence rates of 19.8%, 13.7% and 6.7%, respectively, being detected in the population. About one-fifth of the population showed signs suggestive of protein-energy deficiency; whilst less than 5% showed signs indicative of riboflavin, iodine and iron deficiencies. Vitamin A deficiency was the commonest nutritional deficiency identified in this community with almost 38.4% of them showing signs of the deficiency. The commonest skin infection was scabies.
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PMID:Health status of Orang Asli (aborigine) community in Pos Piah, Sungai Siput, Perak, Malaysia. 974 Feb 69

A previously healthy 18-year-old boy presented with daily spiking fever, polyarthritis, and evanescent skin rashes, as well as hepatomegaly and Raynaud's phenomena for 2 months. He was initially diagnosed with adult-onset Still's disease (AOSD). During the period of follow-up, intermittent fever and migratory polyarthritis persisted and an insidiously growing mass over the right axillary region was noted 1 year after the diagnosis of AOSD. Excisional biopsy of the mass revealed a group of lymph nodes with histological features of the hyaline vascular type of Castleman's disease. The patient's symptoms disappeared soon after excision of the lymph nodes. evanescent rash, lymphadenopathy, hepatosplenomegaly and serositis [5]. A clinical picture compatible with the diagnosis of AOSD has not been described in the localised hyaline vascular type of Castleman's disease. We report such a case in an 18-year-old male patient who presented prolonged fever and polyarthritis with an initial diagnosis of AOSD. The diagnosis of hyaline vascular type of Castleman's disease was made 1 year later, when the patient developed an insidiously growing mass over the right axilla.
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PMID:Localised hyaline vascular type of Castleman's disease mimicking adult-onset Still's disease. 1063 75


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