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)

Primary lymphoma of the kidney is extremely rare; most lymphomatous renal masses represent extension from adjacent sites of disease or involvement by generalized disease (4,9,12). Three men and one woman, 45 to 71 years of age, presented with solitary renal masses clinically thought to be renal cell carcinoma. Each experienced abdominal pain, one with hematuria and one with "B" symptoms. Physical examination revealed no peripheral lymphadenopathy or hepatosplenomegaly. Lactic dehydrogenase (LDH) was elevated in three cases, and blood urea nitrogen (BUN) and creatinine were slightly increased in two. Two cases were diagnosed correctly from needle biopsy, with ultrastructural confirmation in one case and marker studies, DNA flow cytometry, and cytogenetics in the other. Because of a presumptive diagnosis of renal cell carcinoma, two patients underwent nephrectomy. Three cases were large-cell lymphoma, and one, small noncleaved cell lymphoma.
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PMID:Malignant lymphoma presenting as a renal mass: four cases. 355 31

The author reports the case of a patient with an incomplete form of familial lipoprotein lipase deficiency associated with type I hyperlipoproteinemia manifesting an autosomal recessive pattern of inheritance. The patient presented with hepatosplenomegaly, abdominal pain, and fasting chylomicronemia. A Western diet elicited a steep increase in plasma triglyceride concentration and the appearance of floating chylomicrons over a clear infranatant in fasting plasma. Postheparin lipoprotein lipase activity was moderately reduced to 38% of control values. Adipose tissue lipoprotein lipase activity was 10% of normal, whereas his muscle enzyme activity was within the reference range. Two-dimensional electrophoresis of plasma apolipoproteins revealed the presence of normal activator (apolipoprotein C-II). These results confirm the importance of the adipose tissue enzyme for the clearance of diet-derived plasma triglycerides.
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PMID:An incomplete form of familial lipoprotein lipase deficiency presenting with type I hyperlipoproteinemia. 363 Sep 77

An 8-year-old boy presented with elevated temperature, malaise, hepatosplenomegaly, mesenteric adenitis, and septic shock. Cultures of biopsied abdominal lymph nodes as well as the blood grew Yersinia pestes. The boy's condition improved after two weeks of chloramphenicol and cefotaxime (Claforan). Two days after stopping intravenous antibiotic therapy, the patient again became febrile and complained of abdominal pain. Abdominal imaging with 111In-labeled leukocytes did not show any abnormalities, however, 67Ga-citrate scintigraphy demonstrated an abnormal focus of increased radiopharmaceutical uptake within a confluence of necrosed lymph nodes within the right upper quadrant of the abdomen. In addition, abnormal 67Ga-uptake was seen within the left hip region. Correlative imaging with computed tomography is also presented.
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PMID:Imaging in plague. 366 83

Two patients (brother and sister, 41 and 39 yr of age, respectively) have been shown to have marked elevation of plasma triglycerides and chylomicrons, decreased low density lipoproteins (LDL) and high density lipoproteins (HDL), a type I lipoprotein phenotype, and a deficiency of plasma apolipoprotein C-II (apo C-II). The male patient had a history of recurrent bouts of abdominal pain often accompanied by eruptive xanthomas. The female subject, identified by family screening, was asymptomatic. Hepatosplenomegaly was present in both subjects. Analytical and zonal ultracentrifugation revealed a marked increase in triglyceride-rich lipoproteins including chylomicrons and very low density lipoproteins, a reduction in LDL, and the presence of virtually only the HDL3 subfraction. LDL were heterogeneous with the major subfraction of a higher hydrated density than that observed in plasma lipoproteins of normal subjects. Apo C-II levels, quantitated by radioimmunoassay, were 0.13 mg/dl and 0.12 mg/dl, in the male and female proband, respectively. A variant of apo C-II (apo C-IIPadova) with lower apparent molecular weight and more acidic isoelectric point was identified in both probands by two-dimensional gel electrophoresis. The marked hypertriglyceridemia and elevation of triglyceride-rich lipoproteins were corrected by the infusion of normal plasma or the injection of a biologically active synthesized 44-79 amino acid residue peptide fragment of apo C-II. The reduction in plasma triglycerides after the injection of the synthetic apo C-II peptide persisted for 13-20 d. These results definitively established that the dyslipoproteinemia in this syndrome is due to a deficiency of normal apo C-II. A possible therapeutic role for replacement therapy of apo C-II by synthetic or recombinant apo C-II in those patients with severe hypertriglyceridemia and recurrent pancreatitis may be possible in the future.
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PMID:Apolipoprotein C-II deficiency syndrome. Clinical features, lipoprotein characterization, lipase activity, and correction of hypertriglyceridemia after apolipoprotein C-II administration in two affected patients. 394 67

A 28-year-old woman was admitted six months before her death because of abdominal pain, anemia and hepatosplenomegaly. Clinical diagnosis by biopsy examination was primary hepatic angiosarcoma. The autopsy revealed about 700 ml of bloody ascites. The spleen weighed 510 g, and was completely replaced by dark grayish-red tumors. The enlarged liver was 6,560 g and revealed multiple tumor nodules. Microscopically, the tumor cells formed irregular vascular spaces. Factor VIII-related antigens were stained in the tumor cells. Zonula adherens was observed also by electron microscopic observation.
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PMID:[An autopsy case of primary splenic hemangiosarcoma]. 407 65

Twenty five cases of Burkitt's lymphoma in Thai children were diagnosed at the Department of Pediatrics, Siriraj Hospital during the period of 13 years (January 1969 to April 1982). Males were more affected than females with the ratio of 1.7:1. The age ranged from 2 to 11 years with the median age of 4-5 years. The most common clinical manifestations were abdominal mass associated with nausea vomiting, abdominal pain, anorexia, weight loss and generalized lymphadenopathy which occurred in 50-60% of cases. Additional symptoms and signs included anemia, hepatosplenomegaly, edema and pleural effusion. Jaw tumor was found in only 37.5% of the patients. Definite diagnosis depended on the characteristic starry sky appearance of the lymph node biopsy or section of abdominal mass. In advance cases, the tumor cells could be discovered in bone marrow aspiration, ascitic fluid pleural fluid and cerebrospinal fluid. The typical blast cells were detected in the peripheral blood in 4 cases. Antibody to Epstein-Barr virus could be detected in almost all cases with high titers in some cases. Most patients responded very well to local irradiation and chemotherapy with prednisolone plus cyclophosphamide and vincristine or methotrexate. However, relapse occurred rapidly and 80% of the patients died within 3 months after diagnosis with the median survival of only 1 month. Five cases expired early before any specific treatment. The main causes of death were disease, sepsis, excessive bleeding and hyperkalemia.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Burkitt's lymphoma in Thai children: an analysis of 25 cases. 631 66

A new case of C-II anapolipoproteinemia (complete apolipoprotein C-II deficiency) as the cause of severe hypertriglyceridemia with chylomicronemia (type I lipoprotein phenotype) is described. The patient was a five-year-old boy living in Connecticut. He had splenomegaly, episodic abdominal pain, and bloody stools. Absence of apolipoprotein C-II (and its isoforms C-II1 and C-II2) was documented by a sensitive and specific radioimmunoassay, analytical isoelectric focusing, and in vitro lipolytic assay. Decreased levels of high- and low-density lipoprotein cholesterol and apolipoproteins A-I and A-II and increased levels of plasma triglycerides and apolipoprotein E were found. Post-heparin extra-hepatic lipoprotein lipase activity was within normal range. Incorporation of exogenous purified human apolipoprotein C-II to an incubation mixture of purified lipoprotein lipase and the patient's triglyceride-rich lipoproteins resulted in a dramatic increase in the catabolic rate of the defective triglyceride-rich lipoproteins. The absence of the isoforms of apolipoprotein C-II in this patient indicates that a common gene exists for the C-II isoproteins, which appear to be necessary for normal triglyceride transport in humans. A literature review of 23 reported cases indicates that xanthomas and hepatosplenomegaly are less common in C-II anapolipoproteinemia than in lipoprotein lipase deficiency, the other major etiologic cause of genetic chylomicronemia.
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PMID:C-II anapolipoproteinemia and severe hypertriglyceridemia. Report of a rare case with absence of C-II apolipoprotein isoforms and review of the literature. 647 85

A 29 year old pregnant woman presented at 28 weeks with severe upper abdominal pain. Features of pre-eclamptic toxaemia became apparent and intrauterine death occurred abruptly. The development of shock, a reduction in haemoglobin from 124 to 88 g/l without evidence of external blood loss and tender hepatosplenomegaly suggested major intrahepatic and intrasplenic haemorrhage. This suggestion was supported by ultrasound and CT scans. The patient made a complete recovery over a period of weeks. She was shown to have a circulating LE-inhibitor and had major thrombotic episodes involving her leg veins.
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PMID:Hepatic and splenic haemorrhage as a complication of toxaemia of pregnancy in a patient with circulating lupus anticoagulant. 681 95

A 4-year-old girl presenting with vomiting, abdominal pain, and renal failure was found to have gross hepatosplenomegaly, a renal mass, and bilateral pleural effusions. A diagnosis of acute lymphoblastic leukaemia (ALL) was suggested by a peripheral white cell count (WCC) of 119,000 x 10(6)mm3, 57% blasts, 22% lymphocytes, and confirmed by bone marrow examination. Lymphocyte surface marker studies at diagnosis enabled classification as a T-ALL, with a significant proportion of the T cells also bearing receptors for the third component of complement (C3). Seventy-two percent of the peripheral blood mononuclear cells reacted with anti-Ia monoclonal antibody (FMC44), and a smaller proportion (25%) carried receptors for the Fc portion of IgG. The T-classification of this ALL was verified at central nervous system (CNS) relapse and at a subsequent nodal relapse. Double-marker studies on cells from the infiltrated lymph node prepared in suspension confirmed the presence of Ia-positive T cells. The Ia marker is usually a useful discriminant between T and non-T cells in normal and ALL cell populations. The case described here highlights the need for a panel of markers to be used in classification of childhood ALL and supports the suggestion that there is a distinct subtype of Ia-positive T-ALL.
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PMID:Childhood T-cell acute lymphoblastic leukaemia expressing "Ia-like" antigen:" a case report. 698 Oct 53

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


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