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)

The main clinical features as well as the most important laboratory test in systemic lupus erythematosus (SLE) are reviewed. The peculiar aspects both in clinical presentation and in natural history of this disease in childhood are stressed. Personal experience is reported: 32 cases, 8 males and 24 females, mean age of onset 10.9 + 2.1 yrs, are evaluated. The most frequent clinical symptoms at diagnosis were fever, skin involvement and joint involvement, while anemia, nephropathy and hepatosplenomegaly were frequently present at onset. ANA were detected in all the subjects, anti dsDNA in 84% of cases; in only one patient SS-A/SS-B assayed positive. C4 was decreased in 17/32 cases at onset, in the others during the course of disease. Three patients died, 2 for infections, 1 for a non-Hodgkin lymphoma. Two cases present a chronic renal failure (1 is dialyzed).
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PMID:[Systemic lupus erythematosus in childhood: review of the literature and personal observations on 32 cases]. 209 78

The authors have identified six Southeast Asian patients ranging in age from 14 to 21 years with hemoglobin E-beta(0) thalassemia and a coagulopathy involving von Willebrand factor (vWF). These patients had normal or only slightly decreased plasma clotting factor levels. The activated partial thromboplastin time was prolonged in four of the patients. The abnormal feature common to all patients was a qualitative loss of high molecular weight multimers of vWF by crossed immunoelectrophoresis (vWF:CIE). Plasma vWF antigen concentration (vWF:Ag) and ristocetin cofactor activity (vWF:RCo) also were decreased and bleeding time prolonged in three patients. Epistaxis was present in two. No family history of increased bleeding tendency was present in any patient. Coagulation parameters and vWF:CIE were normal in two first-degree relatives without this hemoglobinopathy. vWF abnormalities and clinical manifestations were greatest in those patients with the most severe anemia and hepatosplenomegaly. These six patients appear to have an acquired abnormality of vWF, although they lack the clinical characteristics of acquired von Willebrand disease. While the etiology of this abnormality is unclear, the authors speculate that proteolysis of vWF secondary to extramedullary hematopoiesis or loss through high cardiac output shear stress in these anemic patients may be involved.
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PMID:Abnormality of von Willebrand factor in patients with hemoglobin E-beta (0) thalassemia. 210 77

A 52-year-old woman with traumatic rupture of the thoracic descending aorta had a history of previous blood transfusion 23 years ago. This time, she received 4,600 ml of blood transfusion during the replacement procedure of thoracic aorta. On the 12th postoperative day, she had acutely progressive severe jaundice, anemia and hepatosplenomegaly. All transfused blood was compatible by bromelin method before operation. Serological studies revealed a secondary response of hemolytic transfusion reaction due to anti E and anti c antibodies. She fell into severe bilirubinemia (66 mg/dl) and anuria, and died on 19th day after operation. A positive Coombs test in a patient who has been transfused recently must be interpreted with great caution. The "coated" cells may be incompatible donor cells in a patient who has antibodies from a prior transfusion. The incompatibility occasionally leads to delayed transfusion reaction that may stimulate "autoimmune" hemolytic anemia.
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PMID:[Fatal delayed hemolytic transfusion reaction in a postoperative case of traumatic aortic rupture]. 211 89

Angioimmunoblastic lymphadenopathy (AILD), first discovered in the 70's, is an infrequent disease which generally proves fatal within a short time. It is characterized by lymphadenopathies, hepatosplenomegaly, fever and rash. The most frequent laboratory findings are: anemia, leukocytosis with lymphopenia and non specific hypergammaglobulinemia. In spite of being considered a non malignant disease, it produces important immunity disorders which predispose the patient to serious infections, frequently fatal. In the course of time patients are likely to develop malignant lymphomas or other types of tumors. We describe a ganglionar proliferation and general symptoms in a patient who had been diagnosed as AILD by ganglionar biopsy. She was treated with corticosteroids during 8 months after which she had a complete recovery. Three months later the patient was readmitted with enterrorhagias and clear deterioration of her general condition. Tests showed the existence of a colon tumor and absence of adenomegaly in the areas previously affected by AILD. A colon surgery was carried out and a specimen examined. The anatomopathologic examination confirmed the existence of an immunoblastic lymphoma infiltrating the regional ganglionar area. Colon lymphomas constitute only 4% of all colon tumors; they are related to chronic gastrointestinal disease such as Crohn disease, ulcerative colitis, malabsorption syndromes, tumors and others. We conclude that in this patient AILD and prednisone administration constituted favoring factors for the development of an extranodal lymphoma.
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PMID:[Angioimmunoblastic lymphadenopathy and colonic lymphoma]. 213 Feb 46

Thirty-five children with symptomatic human immunodeficiency virus infection were enrolled in a 12-week, three-center phase I study of intravenous and oral zidovudine therapy. At enrollment the children ranged in age from 5 months to 13 years, with a median age of 3 1/2 years. Twenty-one children (60%) had acquired immunodeficiency syndrome and 14 (40%) had the related complex; 20 children had less than 0.5 10(9) CD4+ lymphocytes per liter (less than 500 cells/mm3) at entry. Zidovudine was administered in one of three escalating dose regimens. One or two months of intravenous treatment with zidovudine every 6 hours was followed by orally administered drug on the same schedule; zidovudine was infused at 80, 120, or 160 mg/m2/dose, and the oral dose was one and one-half times the intravenous dosage. Adverse events were similar to those observed in adults. Neutropenia (absolute neutrophil count less than 0.75 10(9)/L (750 cells/mm3] occurred in nine patients. The median neutrophil count fell from 2.50 10(9)/L at entry to 1.72 10(9)/L at the end of the study. Anemia requiring transfusion occurred in seven 10(9)/L at the end of the study. Anemia requiring transfusion occurred in seven patients; the median hemoglobin level among nontransfused patients decreased from an entry value of 108 to 105 gm/L (10.8 to 10.5 gm/dl). Dosage adjustments were made in 15 patients, in 12 because of anemia or neutropenia. No patients required permanent discontinuation of zidovudine because of toxic effects. Positive effects included a faster-than-anticipated rate of weight gain, decreased hepatosplenomegaly, and lowering of the total IgG and IgM concentrations toward more normal values. Zidovudine appears to be safe and to have manageable toxic effects in children.
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PMID:Safety and tolerance of intermittent intravenous and oral zidovudine therapy in human immunodeficiency virus-infected pediatric patients. Pediatric Zidovudine Phase I Study Group. 218 Nov 2

A 56-year-old man had dyspnea, weight loss, hemoptysis, and a generalized bleeding diathesis. Physical examination disclosed hepatosplenomegaly, congestive heart failure, and multiple sites of bleeding. Severe anemia, thrombocytopenia, rouleaux formation, and a leukocytosis with circulating immature plasma cells were observed, along with azotemia, hyperuricemia, and marked elevation of total proteins with a monoclonal IgG kappa spike. The finding of increased serum viscosity confirmed the clinical impression of the hyperviscosity syndrome. Emergency plasma exchange produced marked improvement in the clinical manifestations of hyperviscosity syndrome. Systemic chemotherapy resulted in a partial remission of the disease, but the patient ultimately died of complications of treatment. In this review, we discuss the diagnosis and management of the hyperviscosity syndrome.
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PMID:Plasma cell leukemia and hyperviscosity syndrome. 219 91

We describe a case of progressive diaphyseal dysplasia occurring sporadically in a 25-year-old woman. This patient had menorrhagia, and severe anemia and hepatosplenomegaly, unusual clinical features of this disease.
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PMID:Progressive diaphyseal dysplasia: case report and literature review. 220 43

A case of congenital hemolytic anemia caused by pyruvate kinase (PK) deficiency variant designated PK 'Nichinan' is presented. A 29-old patient with a history of anemia and hepatosplenomegaly had an episode of aplastic crisis associated with fever, abdominal symptoms and worsening hepatosplenomegaly. Study of the family members revealed that his mother and two of three siblings showed decreased PK activity whereas his father showed normal PK activity with a normal level of glycolytic intermediates. The patient was assumed to be a double heterozygote with two separate mutant genes from the parents despite the apparent normality of his father's erythrocyte PK.
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PMID:A family case of pyruvate kinase variant, PK 'Nichinan'. 223 65

Nine black children aged between 3 months and 30 months of age, with human immunodeficiency virus type I (HIV-I) infection are described to draw the attention of health professionals in southern Africa to special clinical characteristics useful for recognising this problem, which has many shared features with common diseases of infancy and childhood in the Third World. The main presenting complaints were chronic cough and persistent diarrhoea and vomiting. These children frequently had diarrhoea (8 of 9 patients), mucocutaneous candidiasis (8), pneumonia (7), hepatosplenomegaly (9), significant lymphadenopathy (5) and wasting (5). All were infected by common bacteria, such as Gram-negative organisms, Mycobacterium tuberculosis and Campylobacter jejuni, or by opportunistic infections such as Candida or cytomegalovirus (CMV), or by both bacterial and opportunistic organisms. A raised total serum globulin level, anaemia, lymphopenia and a cerebrospinal fluid (CSF) pleocytosis were frequent findings. Incomplete data on parental HIV status suggest perinatal transmission. Three of the children were HIV-antigen positive. The diagnosis of full-blown acquired immunodeficiency syndrome (AIDS), using the stringent Centers for Disease Control criteria, is difficult in our situation because of limited diagnostic resources; however, using these criteria, and the clinical case definition for AIDS recommended by World Health Organisation, it is thought that probably 4 of these children could be considered as having AIDS.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Some early observations on HIV infection in children at King Edward VIII Hospital, Durban. 223 85

We present 21 cases of visceral Leishmaniasis diagnosed in our hospital during the past 8 years. The diagnostic method used was the visualization of the parasite in bone marrow aspiratory puncture. All cases presented fever at admission, hepatosplenomegaly, anemia elevated sedimentation rate and polyclonal gammapathy. Two of our patients were diagnosed of AIDS during the course of the disease. Cure was observed in all cases after one cycle treatment with pentavalent antimonials except for the two AIDS cases one of whom died due to cerebral toxoplasmosis. We point out visceral Leishmaniasis as an opportunistic infection in patients with AIDS and its resistance to the usual treatment.
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PMID:[Visceral leishmaniasis in Alicante. Analysis of 21 cases]. 224 57


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