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)

Although anemia has not been widely appreciated as a complication of primary hyperparathyroidism, 5.1% of the individuals with this disorder seen at the Massachusetts General Hospital since 1962 had a normochromic, normocytic anemia that could not be related to blood loss,a deficiency state, or uremia. The anemic group had more advanced bone disease and higher levels of serum calcium, alkaline phosphatase, and parathyroid hormone than the nonanemic group. Results of bone marrow biopsies performed in five patients showed variable degrees of myelofibrosis. However, none of the patients had hepatosplenomegaly, a myelophthisic peripheral blood smear, leukopenia, or thrombocytopenia. Removal of the abnormal parathyroid glands led to improvement or correction of the anemia.
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PMID:Anemia in primary hyperparathyroidism. 85 57

Significant portion of the urologic and nephrologic patients in Yemen are treated because of the early and late complications of schistosomiasis (bilharsiasis). During two years 79 patients with renal insufficiency and complications have been examined and treated by the authors. In combination with moderate restricted renal functions hepatosplenomegaly and signs of portal hypertension were observed in female patients. Granulomatous infiltration, calcification and malignous tumour of the urinary bladder was found in men. Stricture of the ureter, uni- or bilateral consecutive hydronephrosis was detected frequently. In addition to inflammatory components bladder, ureteral and renal stones were verified. In the course of treatment 45 percutaneous nephrostomies were performed and an anterograde pyelography was carried out in 60 patients. Ureteral recanalisation was accomplished by means of an ureter stent in 8 cases. Because of serious uremia maintenance haemodialysis was performed in 52 patients. The aim of this work is to contribute to recognise the disease in early stage and emphasize the importance of establishing diagnosis as early as possible and stress the role of the appropriate causal and symptomatic treatment.
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PMID:[Late urinary tract complications of schistosomiasis]. 181 Dec 3

A case of partial sphingomylinase deficiency with supranuclear vertical ophthalmoplegia, perceptive hearing loss and renal failure is reported. Extensive studies revealed sea-blue histiocytosis in bone marrow, delayed peripheral nerve conduction velocity, selective IgG and IgM deficiency, mild hepatosplenomegaly and testicular hypotrophy and retention. Although renal failure, perceptive deafness, immunoglobulin deficiency and testicular malformation are rare conditions in sphingomyelinase deficiency, this case mimicked to lipidosis reported by Neville. The association of congenital malformation and uremia might accentuate the symptoms.
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PMID:Partial sphingomyelinase deficiency with sea-blue histiocytosis and neurovisceral dysfunction. 254 78

A 37-year-old male was admitted to hospital because of a right hypochondrial pain and icterus. His physical examination showed hepatosplenomegaly, and the laboratory findings demonstrated abnormal hepatic and pancreatic functions. A CT examination revealed a large mass of a low density in the pancreas head and tail. Further, an immunological study revealed that the patients serum Ca 19-9 level was elevated, but that the CEA and AFP levels were normal. Both the pathological and cytological examinations, however, did not indicate a malignancy of the pancreas. The patient subsequently developed uremia, a hemorrhagic tendency, and then died. An autopsy confirmed a pancreatic tumor which occupied the head of pancreas. Histologically, the tumor contained round cells with scanty cytoplasms and showed a sarcomatous pattern. An immunohistochemical study showed that the LCA, MB-1, and the LN-1 for B cell markers were positive, while the MT-1 for T cells was negative. The case illustrates a malignant lymphoma of the pancreas which demonstrated a serum Ca 19-9 elevation.
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PMID:[An autopsied case of malignant lymphoma of the pancreas with an elevation of the serum Ca 19-9 level]. 269 18

A boy, who started remittent fever reaching 40 degrees C at the age of 4 years and 9 months and gradually developed hepatosplenomegaly, lymphadenopathy, pancytopenia, and hypergammaglobulinemia, is reported. Aspirated bone marrows contained sea-blue histiocytes, and nitroblue tetrazolium test was abnormal. X-ray examination revealed a tumor mass in the right lung, uremia occurred terminally, and he died at the age of 10 years and 3 months. Surgical specimens, obtained by splenectomy, and necropsy revealed the presence of characteristic sea-blue cells in the bone marrow, spleen, lymph nodes, liver, and kidneys, and pseudotuberculous granulomas with or without aspergillus in the lungs, epicardium, liver, and lymph nodes. Histochemically, sea-blue granules accumulating in the cytoplasm of the histiocytes were proved to be a lipogenic ceroid-like pigment. Electron microscopically, these granules were comprised of round or ovoid, membrane-bound or free lipid droplets of various sizes and electron densities, occasionally containing poorly oriented, lamellar structures. The nature and possible pathogenesis of the sea-blue histiocytosis in this case are discussed briefly.
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PMID:Chronic granulomatous disease of childhood and sea-blue histiocytosis. A pathologic study of an autopsy case. 652 83

Type V hyperlipoproteinemia is an unusual entity in children. Only 6 cases have been described so far to our knowledge. Authors present a 9 year old male that came for diagnosis of a hepatosplenomegaly. There was no evidence of abdominal pain, xanthomas or pancreatitis. Secondary disorders such as uncontrolled insulinopenic diabetes mellitus, glycogen storage disease, administration of estrogen compounds, nephrotic syndrome or uremia, and dysglobulinemias were excluded. His father presented the same lipoprotein pattern suggesting a dominant mode of inheritance. The administration of heparin showed a good response of serum proteinlipase.
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PMID:[Primary hyperlipoproteinemia in childhood (author's transl)]. 728 88