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 study of 3451 cholesterol determinations in different diseases was carried out. The mean cholesterol levels for male and female adults and children with different diseases were compared with values for their healthy counterparts. Sickle cell anemia, leukemia, liver cirrhosis, hepatosplenomegaly, tuberculosis, and diabetic, nutritional, ataxic, and tropical neuropathies in male and female adults were associated with reduced cholesterol level while in children malnutrition and anemia were the main causes of low cholesterol levels. Obesity and hypertension caused an elevated level but the mean values were within the range for adult Nigerians in the high income group. Only nephrotic syndrome in both adult and children was associated with a markedly increased cholesterol level in Nigerians of low income status.
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PMID:Serum cholesterol and diseases in Nigerians. 50 76

The assessment of morbidity caused by chronic parasitic infections in the populations of endemic areas has remained difficult and controversial. Contributing to this predicament is the frequent occurrence of multiple infections with agents that can cause a wide range of clinical manifestations, from the frequent symptomless carrier state to overt disease with more or less specific clinical manifestations. In the interpretation of the complex morbidity patterns found in rural populations of tropical countries, it is often difficult to make a clear determination of cause and effect. The situations is further complicated by the low degree of pathognomicity of the clinical manifestations of even the advanced stages of certain parasitic diseases. The paper gives examples that illustrate the interaction between endemic malaria and schistosomiasis as important causes of hepatosplenomegaly. Also shown in the paper are the inter-relationships between the nutritional status and the number of multiple infections with parasites found in African villages as well as the association between habitual coca leaf chewing, malnutrition and hookworm disease in a Peruvian community of mixed ethnic origin. The paper describes micro-epidemiological features of poly-parasitism by comparing the prevalence and intensity of infection with Onchocerca volvulus, Schistosoma mansoni and S; haematobium between sub-groups in the village population who have different sources of domestic water supply. In two African villages with endemic schistosomiasis where mass treatment will be administered, only 25% of the residents with parasitologically confirmed S. haematobium infection and 12% of those with S. mansoni had single infection; the remaining majority had at least one additional patent parasitic infection of public health importance.
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PMID:Epidemiology of poly-parasitism. IV. Combined effects on the state of health. 72 41

Parasitic infections and malnutrition coexist in many tropical and subtropical areas. Studies of Leishmania donovani and of experimentally infected Syrian hamsters have provided important insights into the complex interrelationships between malnutrition and this parasitic disease. Malnutrition, which adversely affects cell-mediated immunity, is associated with the development of visceral leishmaniasis (kala-azar) in children living in endemic areas. In turn, L. donovani can cause wasting as well as hepatosplenomegaly, fever, and anemia. Syrian hamsters infected with L. donovani develop a disease that is comparable to that of humans with kala-azar. Weight loss in infected hamsters is associated with splenic macrophage secretion of potentially catabolic cytokines as measured by the D10.G4.1 assay for interleukin-1 and the L929 cytotoxicity assay for tumor necrosis factor/cachectin. Although decreased food intake contributes to wasting in infected hamsters, studies of skeletal muscle function indicate that it is not the sole factor. Leishmania donovani-infected hamsters have also been used to study drugs with the potential to prevent or reverse cachexia.
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PMID:Visceral leishmaniasis: a model for infection-induced cachexia. 163 76

Wolman's disease is a rare inherited disorder of lipid metabolism in which large amounts of triglycerides and cholesteryl esters accumulate in the visceral organs. The main clinical features of the infantile form of the disease are failure to thrive, vomiting and diarrhoea, hepatosplenomegaly and radiological evidence of calcification of the adrenals. We were able to follow the course of this disease in a female turkish infant. It was first admitted because of a transient swelling within the right angle of mandible, subfebrile temperatures and abdominal distension as well as vomiting at the age of three days. After symptomatic treatment she was discharged home without a specific diagnosis. At the age of 4.5 months she was readmitted with severe hepatosplenomegaly, hypochromic anemia and fever of unknown origin. Calcifications of the adrenals and lymphocytic vacuoles led to the diagnosis of Wolman's disease. Deficiency of acid lipase activity in leucocytes could establish this diagnosis.
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PMID:[Wolman's disease in an infant]. 232 17

To date, the acquired immunodeficiency syndrome (AIDS) has been identified in over 50 children in the US, including those with associated hemophilia, high-risk environmental factors (Haitian background, parental intravenous drug abuse, or prostitution), and blood transfusions. The evaluation of an infant or young child in whom AIDS is suspected requires exclusion of congenital disorders of immune function. A specific test is not currently available, but inclusion criteria for childhood AIDS have been developed. The diseases accepted as indicative of underlying cellular immunodeficiency children are the same as those used in defining AIDS in adults, with the exclusion of congenital infections such as toxoplasmosis or herpes simplex virus infection in the 1st month of life or cytomegalovirus infection in the 1st 6 months of life. Specific conditions that must be excluded in children are primary immunodeficiency diseases (e.g., DiGeorge syndrome, Wiskott-Aldrich syndrome, ataxia-telangiectasia, neutrophil function abnormality) and secondary immuno-deficiency associated with immunosuppressive therapy, lymphoreticular malignancy, or starvation. Almost all young children with AIDS have hepatosplenomegaly, interstitial pneumonitis, and poor growth. The average age of 36 US child AIDS victims studied in detail was 5 months at presentation with findings suggestive of severe immunodeficiency. Mucocutaneous candidiasis was present in 75% of these 36 children, and Pneumocystis carinii and cytomegalovirus were each isolated from 30% of cases. Normal T4:T8 ratios occur in about 15% of pediatric AIDS cases. Laboratory evidence of polyclonal hypergammaglobulinemia generally supports the AIDS diagnosis. Recurrent infection and malnutrition are major problems in the clinical management of child AIDS patients.
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PMID:Acquired immune deficiency syndrome in childhood. 298 8

S. mansoni and S. japonicum complex schistosomes cause hepatosplenic and hepatointestinal schistosomiasis. The prevalence and incidence of this disease is increasing in all the endemic areas. Hepatosplenic schistosomiasis is seen in a small subset of clinically infected patients and represents a good model of intrahepatic portal hypertension characterised by a presinusoidal portal block and a well preserved liver parenchyma. Symmers' fibrosis is seen in a significant proportion of patients with high worm load. While the pathogenesis of Symmers' pipe stem fibrosis has not been well established, experimental and clinical data point to egg induced granulomata. The main consequences are presinusoidal portal hypertension, oesophageal varices and hepatosplenomegaly. The most striking symptoms are haematemesis or melena secondary to variceal and gastrointestinal bleeding. Cofactors associated with the pathogenesis include aflatoxins, malnutrition, alcoholism, hepatitis B and C virus. While stool examination is the best technique for diagnosis, a number of immunological tests though sensitive are not specific. Ultrasonography is sensitive for detection of Symmer's fibrosis. Praziquantel and oxaminiquine are drugs found to be effective in the treatment of hepatosplenic schistosomiasis. Recently beta-blockers have been found to be effective in the treatment of gastrointestinal rebleeding. Endoscopic sclerotherapy has been found to be effective for treatment of bleeding oesophageal varices. The treatment of choice for portal hypertension is oesophagogastric devascularization with splenectomy (EGDS).
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PMID:Tropical gastrointestinal disease: hepatosplenic schistosomiasis--pathological, clinical and treatment review. 776 89

Human alpha-mannosidosis is a lysosomal storage disorder characterized by mental retardation, dysostosis multiplex, and hepatosplenomegaly. Deficiency of the enzyme leads to accumulation of mannose-rich glycoconjugates in tissues. Zinc sulphate has been shown to stimulate alpha-mannosidase activity in vitro. Oral zinc therapy was attempted on a 4-year-old boy with alpha-mannosidosis for 3 years. After almost 10 years of follow-up on and off zinc therapy, we must conclude that oral zinc does not substantially affect the clinical course of alpha-mannosidosis.
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PMID:Oral zinc therapy in the treatment of alpha-mannosidosis. 835 13

There is limited information on HIV infection in children in West Africa. This prospective case series study was done to determine the size of the problem and the feasibility of selective screening for infection based on clinical presentation. It involved infants and other children admitted to the Children's Emergency Ward and Paediatric Medical Ward of the University of Maiduguri Teaching Hospital, Nigeria, from the beginning of September 1992 to the end of September 1994. Clinical evaluation followed by serologic tests (ELISA and Western blot techniques) was undertaken. Descriptive study; frequencies were compared using chi 2 test for Fisher's exact test as appropriate. One hundred and ninety nine (10.9%) of 1,822 admissions were screened. One hundred and fifty eight (79.4%) were ELISA negative and 17 (8.6%) ELISA and WB positive; a further 10 (5%) were ELISA positive but WB indeterminate and 14 (7%) were ELISA positive but WB negative in 12 or untested in two. All the infections were HIV-1. Sixteen (39%) patients (nine WB positive, three WB indeterminate and four ELISA positive only) are dead, 14 from HIV-related illnesses, two (4.9]) are alive and 23 (56.1%) lost to follow up; 11 of the HIV-related deaths involved infants. Presence of persistent diarrhoea, prolonged fever, oral thrush, hepatosplenomegaly, diagnosis of tuberculosis and severe malnutrition with gastroentereritis, and multiple (> 3) diagnosis on admission were significantly (p < 0.05) associated with WB confirmed HIV-1 seropositivity and could serve as indicators for selective screening. HIV-1 infection in hospitalised infants and children has become an important problem in Nigeria, presentation in infancy is associated with a high case fatality rate, and the practice of selective screening based on clinical presentation would appear to be feasible.
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PMID:Presentation and outcome of HIV-1 infection in hospitalised infants and other children in north-eastern Nigeria. 914 72

Tuberculosis continues to be a serious problem in public health even thought eh causative bacillus was discovered over 100 years ago. The authors present a clinical case that illustrates the current concern regarding the disease. The case concerns a child of emigrant parents, who are drug addicts and whose illness has not been fully ascertained. The child was hospitalised at three and an half months with fever, malnutrition, opisthotonos and hepatosplenomegaly. After the diagnosis of disseminated tuberculosis affecting the central nervous system, treatment was started with five antituberculosis drugs and with corticosteroids. Respiration improved favourably, but after 19 days the patient suffered a partial tonic-clonic seizure. Subsequently, hydrocephalus was observed and a shunt was applied. Bacteriological examination of the gastric aspirate showed a strain of Mycobacterium tuberculosis resistant to isoniazid and streptomycin. In the eight month of therapeutics, three antituberculosis drugs were still being administered, the shunt was still present and the patient showed a severe psychomotor retardation. The child belonged to a risk group and presented a serious form of tuberculosis with multidrug-resistance, illustrating that this group of children is particularly vulnerable and reflect transmission of this illness among adults.
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PMID:[Tuberculosis: a forgotten challenge]. 934 Oct 47

In the gamma-glutamyl cycle, hereditary defects have been described in four of the six enzymes namely: gamma-GC synthetase; GSH synthetase; gamma-glutamyl transpeptidase and 5-oxoprolinase. Mutants are still to be found in gamma-glutamyl cyclotransferase and in the dipeptidase. Deficiency of GSH synthatase or gamma-GC synthetases results in low levels of GSH. In gamma-GC synthetase deficiency hemolytic anemia is the most prominent symptom, with or without hepatosplenomegaly. In generalized GSH synthetase deficiency 5-oxoproline is overproduced due to lack of feedback inhibition of gamma-GC synthetase. These patients have metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and about 50% of them also have progressive neurological symptoms. Treatment includes acidosis correction, high doses of vitamin E and C and avoidance of drugs precipitating hemolytic crises in G6PD deficiency. Therapeutic trials with GSH analogues, N-acetylcysteine and GSH esters have been carried out. Glutathione synthetase deficiency restricted to erythrocytes results in hemolytic anemia but no 5-oxoprolinuria. gamma-Glutamyl transpeptidase deficiency is associated with GSH-emia and GSH-uria whereas 5-oxoprolinase deficiency is associated with 5-oxoprolinuria. In diagnostic work it must be emphasized that erythrocytes contain an incomplete gamma-glutamyl cycle; they lack both gamma-glutamyl transpeptidase and 5-oxoprolinase and these enzyme activities must therefore be analyzed in other types of cells such as leukocytes and fibroblasts. It is also important to investigate other patients with inherited defects in the gamma-glutamyl cycle to learn more about the biological role of GSH in man.
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PMID:Patients with genetic defects in the gamma-glutamyl cycle. 967 48


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