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 severe visceral form of Niemann-Pick disease from the first days of life was manifested in the progressive retardation of psychomotor development and hepatosplenomegaly. The disease was complicated by anemia and cachexia which led to a fatal outcome in a girl of 7 months.
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PMID:[Niemann-Pick disease (Crocker type B)]. 90 8

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

An auspsied case of malignant fibrous histiocytoma (MFH) is reported. The patient, a 53-year-old male had developed splenomegaly 1 year before admission. On admission, hepatosplenomegaly and ascites were seen, with prominent leucocytosis in the peripheral blood, and the patient died of cachexia. On autopsy, the primary neoplasma was found in the spleen, with metastasis to the liver, vertebrae, lymph nodes and peritoneum. Histologically, to tumor showed a storiform arrangement of tumor cells, with foamy or hemosiderin-faden cytoplasm in places, corresponding to MFH. As far as we know, there have been no reports of primary MFH of the spleen in Japan.
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PMID:[An autopsied case of malignant fibrous histiocytoma of the spleen]. 359 82

Cancer is the second leading cause of death in children and, among cancers, lymphoma is the third most frequently diagnosed type. The majority of these are non-Hodgkin's lymphomas (NHL). Although NHL have been grouped in a variety of confusing ways, recent research in cytogenetics and immunology, coupled with a better understanding of the normal pathways of lymphoid differentiation, has greatly lessened this confusion. Burkitt's lymphoma (BL) is a type of B-cell NHL which is sub-classified as either endemic (African) or non-endemic (American). Kinetic studies have demonstrated a doubling time of only 24 h. As a result of this extremely rapid growth, symptomatic complaints occur early in the disease course. Structures contiguous to the primary become compressed and metabolic derangements occur. Signs of chronic debilitation such as cachexia, diarrhea, generalized lymphadenopathy, and weight loss usually are not found. Thirteen cases of American BL have been treated since 1980 at the Texas Children's Hospital and form the basis of this review. Ten patients had obstructive abdominal symptoms including constipation and pain, and 3 had masses in the neck, maxilla, or tonsil. Systemic manifestations included ascites, jaundice, fever, and hepatosplenomegaly. Two patients ultimately developed central facial nerve paralysis.
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PMID:Burkitt's lymphoma. 381 93

Multiple sulphatase deficiency was studied in 3 siblings--one pair of monozygotic twins and their sister. The children's psychomotor development was arrested at the age of 18 to 24 months, and the hypotonic syndrome combined with signs of spasticity appeared. There was marked hepatosplenomegaly, conspicuously dry scaly skin with the decortication syndrome developing and persisting in the presence of pronounced cachexia. Also present were numerous X-ray abnormalities, metachromatically staining granules in the urine, and Alder- Reilly 's bodies in the blood leukocytes and in specimens of bone marrow. Liver, skin and muscle biopsies performed simultaneously revealed accumulations of water-soluble mucopolysaccharides and deposits of sulphatides in the two twins. Enzyme assays demonstrated arylsulphatase A and B deficiency. The diagnosis was subsequently confirmed at all the three siblings' postmortem examinations.
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PMID:Multiple sulphatase deficiency in homozygotic twins. 642 40

Eight of 13 children pre- or perinatally infected with the HIV virus subsequently developed neurological symptoms. Three children also had other nonspecific symptoms (fever, lymphadenopathy, diarrhoea, hepatosplenomegaly, failure to thrive and mucocutaneous thrush). Five children developed illnesses associated with AIDS (opportunistic infections, cachexia and lymphocytic interstitial pneumonia). The neurological abnormalities predominantly affected motor functions, only later also involving sensory ones. Motor, cognitive and language development was impaired in all eight children. A loss of developmental milestones occurred in three children with HIV encephalopathy: they have since died. In all the children the HIV infection caused symptoms within the first year, progressing more quickly in the three with encephalopathy. There were no discernible risk factors to account for the difference in the course of the disease.
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PMID:[Cerebral symptoms in pre- or perinatally HIV-infected children]. 768 71

Induction of an optimal immune response will likely be a prerequisite for successful immunotherapy of human leukemias and other malignancies. Dendritic cells are highly effective at inducing an immune response to antigens to which the host is unresponsive, while transgenic expression of the costimulator molecule CD40 ligand (gp39/CD154) and the T cell growth factor interleukin 2 (IL2) are also able to augment immune responsiveness. We therefore investigated whether a combination of these two distinctive approaches to immunostimulation could safely increase the anti-tumor immune response compared to each stimulus alone. We injected BALB/CBYJ mice with syngeneic dendritic cells (DC) exposed to A20 lymphoblastic leukemia cell-derived peptides and proteins which had been acid-eluted from the cell surface. In additional mice, the pulsed DC were mixed with genetically modified syngeneic fibroblasts that were expressing CD40 ligand or secreting interleukin 2 (IL2). Three days after their third, weekly, vaccination, they were challenged with parental A20 cells. Tumor growth was suppressed by responses to pulsed DC alone (P < 0.02). This suppression was further enhanced when pulsed DC were coinjected with fibroblasts expressing CD40 ligand and IL2 (P < 0.0005 compared to DC alone) even though CD40 ligand and IL2-expressing fibroblasts alone offered no significant protection in this model. Mice receiving the full complement of immunostimulants either failed to develop visible tumors or developed small tumors which quickly necrosed and regressed, allowing the mice to become long term tumor-free survivors. Antibody mediated depletion of either CD4+ or CD8+ T-cell subset significantly reduced the level of protection afforded by the vaccination. However, it became evident that this intensive stimulation of the immune system lead not only to tumor eradication but also to destruction of cells bearing normal self antigens. Hence, 60 days after challenge with A20 cells all mice in the DC/IL2/CD40 ligand group developed a severe, systemic autoimmune disorder that resembled graft versus host disease and manifest itself by significant peripheral blood cytotoxicity against autologous fibroblasts, blood dyscrasias, gross hepatosplenomegaly, cachexia and fur loss. This phenomenon depended on CD8+ cytotoxic T lymphocytes. Our results therefore suggest that the most effective strategies of immunotherapy against leukemia may also exceed the threshold of anergic cells, leading to a loss of self tolerance to normal self-antigens and the induction of an CD8+ anti-self effector response.
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PMID:Autoimmune disease induced by dendritic cell immunization against leukemia. 1037 48

In 1992 a foci of Schistosomiasis mekongi was rediscovered in the province of Kracheh in Northeast Cambodia. Severe clinical signs due to portal hypertension, which were frequently observed in this population, allowed the discovery of this 'forgotten' focus. Elements of the perception of the population and clinical observations of 20 severe cases due to S. mekongi infections are presented. Interviews with patients and villagers of the area of Kracheh showed severe psychosocial impact including fear from death, infirmity and invalidity. The symptoms of schistosomiasis were well known by the population and were reported to have increased in frequency in the last two decades. They have received traditional names and specific traditional treatment. The description of the clinical cases illustrates the severe pathology, which was observed in the hospital of Sambour, in the north of the province of Kracheh. It shows the pathogenic potential of S. mekongi in all age groups (from 7 to 58 years old): cachexia, hepatosplenomegaly, stunting and retardation of puberty, decompensation of portal hypertension with ascites and rupture of oesophagual varicies. The efficacy of the treatment in the severe stages varies. A follow-up after 30 months showed that 5 patients died, 5 initially improved but then relapsed, 3 remained unchanged and only 5 patients clearly improved. Two patients could not be followed-up. The clinical observations and interviews show severe pathology with impact at both individual and community level. The infection with S. mekongi is the main factor but additional concomitant factors are responsible for this fact. At a certain stage of the disease the prognosis for successful treatment is very low. These observations show the importance of the foci in the Province of Kracheh, Cambodia and underline the need for a long-term global intervention.
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PMID:[A foci of Schistosomiasis mekongi rediscovered in Northeast Cambodia: cultural perception of the illness; description and clinical observation of 20 severe cases]. 1058

The clinical presentation of visceral leishmaniasis, or kala-azar, is variable but usually includes fever, severe cachexia, lymphadenopathy and hepatosplenomegaly. In immunocompromised patients the clinical course of the disease is even less specific and the diagnosis is often made by means of incidental detection of the parasites at atypical sites such as the gastrointestinal tract, peripheral blood, lungs and cerebrospinal fluid. We describe a case of pericardial leishmaniasis in an HIV-infected patient.
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PMID:Visceral leishmaniasis with pericarditis in an HIV-infected patient. 1192 56

The most common symptoms of Gaucher disease include hepatosplenomegaly and anemia and thrombocytopenia due to hypersplenism. We describe the case of a patient with Gaucher disease who had cachexia, massive hepatomegaly, and multiple focal hepatic lesions. The clinical and radiologic findings suggested malignancy. A biopsy specimen was taken from a hepatic lesion and revealed infiltration by Gaucher cells. We discuss our findings in light of the putative increased incidence of hematologic malignancies in patients with Gaucher disease.
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PMID:Multiple hypoechoic hepatic lesions in a patient with Gaucher disease. 1221 54


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