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 case of polymyositis associated with chronic active hepatitis was reported. A 53-year-old man, who had no previous history of blood transfusion nor hepatitis, noticed proximal dominant muscle weakness on January 29, 1985. He was admitted to Kyoto National Hospital on February 7, and laboratory studies disclosed the elevation of serum enzyme levels; creatine kinase (CK) 9845 IU/L (normal 54-263), glutamate oxaloacetate transaminase (GOT) 834 IU/L (9-31), glutamate pyruvate transaminase (GPT) 491 IU/L (4-34), lactate dehydrogenase (LDH) 2135 IU/L (248-464). Also serum gamma globulin was high (1.8 g/dl) and LE-like cell was found. The diagnosis of polymyositis was made and prednisolone therapy (60 mg/day) was started on February 23. The elevated serum enzymes decreased gradually, but severe muscle weakness persisted for about one month. On April 3, he was admitted to our hospital. Physical examination revealed moderate proximal dominant muscle weakness without skin eruption, jaundice or hepatosplenomegaly. The serum enzymes were still high; CK 1826, GOT 173, GPT 232 (GOT less than GPT), LDH 1548. However, alkaline phosphatase (ALP) and bilirubin were normal. Hepatitis B surface antigen (HBsAg) was not detected. Antinuclear antibody was positive. The electromyogram study showed myopathic change, and the muscle biopsy demonstrated myopathic change and cell infiltration, compatible with polymyositis. These results suggested liver dysfunction associated with polymyositis. Prednisolone therapy was continued and muscle weakness decreased. From December, 1985, serum enzymes (CK, GOT, GPT, LDH) elevated again and muscle weakness also slightly increased. Anti-smooth muscle antibody was positive. It was suggested that both polymyositis and liver dysfunction deteriorated.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of polymyositis associated with chronic active hepatitis]. 218 64

The serum activities of monoamine oxidase (MAO), gamma-glutamyl transferase (GGT) and glutamic dehydrogenase (GDH) enzymes were measured in 25 patients with Schistosoma mansoni infection (Group I), 26 patients with schistosomal hepatosplenomegaly and ascites (Group II) and 21 normal controls. The activities of these enzymes were compared with those of serum aspartate aminotransferase (AST), alanine aminotransferase (ALT) and alkaline phosphatase (ALP). The mean levels of MAO, GGT and GDH of Group I were not significantly different from controls. The mean levels of MAO and GGT in Group II, however, were significantly different from corresponding mean levels of Group I and the controls at P less than .001. Changes in the mean level of GDH and ALT were not significant. By contrast, the levels of AST and ALP in both groups showed significant elevation over control levels at P less than .001. These results indicate that estimation of the two enzymes MAO and GGT may aid in the biochemical differentiation of the stages of schistosomiasis and their associated hepatic complications.
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PMID:Serum enzyme tests in hepatosplenic schistosomiasis. 612 67

We postulated that three tests could be used to advantage in the prognosis of patients with alcoholic liver disease. Ninety-eight patients who entered the hospital in hepatic failure, and who survived that illness, were observed for an average of 3.5 years after discharge. At the time of entry, most had jaundice, ascites, edema, and hepatosplenomegaly. Biopsy of the liver disclosed both cirrhosis and hepatitis in 75-80%. Neither clinical features nor laboratory tests could differentiate these patients at the time of entry. However, as early as 3 months after hospitalization, the clinical course and laboratory tests served to distinguish two groups: group 1 comprised 46 patients in whom the serum bilirubin was less than 2 mg/dl; the aspartate aminotransferase less than 55 mU/ml; and the alkaline phosphatase less than 125 mU/ml. In 40 (87%) of these 46 patients, clinical findings improved concomitantly with laboratory tests. Group 2 comprised 52 patients in whom one or more of these three tests showed persistent abnormality; only 12 (23%) of the 52 patients in this group improved clinically and three subsequently died. Although the majority of patients (76%) in group 1 reported abstinence on follow-up, 44% of group 2 patients also claimed abstinence. Complications of liver disease, shunt surgery, and continuing alcoholism contributed to liver failure. Early identification of such patients should aid in the management of alcoholic liver disease.
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PMID:Predicting clinical recovery from alcoholic liver disease. 688 50

Nitrobenzene (NBZ) is primarily employed as an oxidizing agent in the synthesis of analine and benzene compounds. It produces myelotoxic effects and effects on erythrocytes in both animal models and man. Reported hepatosplenomegaly and effects on the bone marrow are indicators that NBZ may be immunotoxic. In these studies, female B6C3F1 mice were exposed to 30, 100 and 300 mg/kg of NBZ in corn oil by gavage for 14 consecutive days. To assess the immunotoxic potential of NBZ, body and organ weights were determined and selected immunologic and host resistance responses were studied. In these studies, the liver and spleen appeared to be the primary target organs. Both liver and spleen weights were dose dependently increased. Gross histopathologic examinations revealed significant changes in the spleen, consisting of severe congestion of the red pulp areas with erythrocytes and reticulocytes. Serum chemistry profiles showed increases in alanine aminotransferase and aspartate aminotransferase activities, indicating liver toxicity. Hematologic studies showed a decrease in erythrocyte number and a concomitant increase in mean corpuscular hemoglobin and mean corpuscular volume. A dose-dependent increase in peripheral reticulocytes was also seen. DNA synthesis was enhanced, as was the number of formed elements and the number of monocyte/granulocyte stem cells in the bone marrow of treated mice. IgM responses were decreased and the phagocytic activity of macrophages in the liver was dose dependently increased with a concomitant decrease in the activities in the spleen and lung. Other immunological parameters examined were unchanged. Host resistance to microbial or viral infection was not markedly altered by NBZ; however, there were trends towards increased susceptibility where T-cell function contributes to host defense. These data indicate that NBZ-induced hemolysis and liver injury are linked to the observed alterations in bone marrow activity.
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PMID:Immunotoxicity of nitrobenzene in female B6C3F1 mice. 798 85

A 62-year-old man was admitted to our hospital because of severe jaundice and fever. Physical examination demonstrated hepatosplenomegaly. The laboratory data revealed elevated serum bilirubin, alkaline phosphatase, lactate dehydrogenase, aspartate aminotransferase and alanine aminotransferase, and the reduced hepaplastin test (Normotest). Computed tomography showed hepatosplenomegaly and swelling of the paraaortic lymph nodes. Although he was treated with antibiotics and steroids, he died of hepatic failure 22 days after admission. At autopsy, his liver weighed 1910 grams, and a histological examination of the liver revealed marked infiltration of CD30 (Ki-1) positive lymphoma cells. He was diagnosed as having non-Hodgkin lymphoma, large cell anaplastic type, Ki-1 lymphoma. We herein report our findings of this very rare case of Ki-1 lymphoma associated with hepatic failure.
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PMID:An autopsy case of Ki-1 lymphoma associated with hepatic failure. 944 89

A 68-year-old woman, who had not traveled outside of western Wisconsin, was hospitalized after 4 weeks of chills, fevers, myalgias, neuralgias in her right arm, and pain in the right upper quadrant of her abdomen. Physical examination revealed hepatosplenomegaly, and laboratory studies showed anemia, thrombocytopenia, increased aspartate transaminase level, and microscopic hematuria. Wright's stain of a blood smear revealed intraerythrocytic organisms consistent with Babesia species. A polymerase chain reaction of whole blood specimens along with an increased serologic titer confirmed the diagnosis of Babesia microti. Indirect immunofluorescent antibody serology and Western blot analysis revealed a simultaneous infection with Borrelia burgdorferi. Coinfection with B. microti and B. burgdorferi may occur in endemic areas where both organisms are carried by the same tick vector, Ixodes scapularis. The intensity and duration of illness seem to be greatest in patients with concurrent infection.
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PMID:Coinfection with Babesia microti and Borrelia burgdorferi in a western Wisconsin resident. 955 37

The characteristics of Epstein-Barr virus (EBV)-associated infectious mononucleosis (IM) in Chinese children are rarely reported. To evaluate the clinical presentations and risk factors for complications of EBV-associated IM in previously healthy children in Taiwan, hospitalized children with the diagnosis of IM due to EBV infection from January 1998 to December 2002 were enrolled. Patients had to fulfill the serologic criteria for the diagnosis of primary EBV infection [viral capsid antigen immunoglobulin M (IgM)-(+), viral capsid antigen IgG-(+), and anti-Epstein-Barr nuclear antigen (EBNA) antibody-(-) with exclusion of other concurrent infections or underlying diseases]. Ninety eight children were eligible, with 79% younger than 5 years old (mean, 4.0 +/- 2.3 years). The male-to-female ratio was 2:1. Nearly all patients suffered from fever (mean duration 10.3 +/- 6.0 days). Cough/rhinorrhea, tonsillopharyngitis, cervical lymphadenopathy and hepatosplenomegaly were found over half of the patients. Atypical lymphocytosis (mean, 12 +/- 13%) and elevated serum aspartate aminotransferase (AST; mean, 167 +/- 183 IU/L) and alanine aminotransferase (mean, 221 +/- 222 IU/L) were the most striking laboratory findings. Various complications, including hematologic, hepatobiliary, central nervous system, and obstructive airway problems occurred in about 20% of patients with significantly prolonged course of hospitalization. All patients recovered uneventfully under supportive and immunomodulating management. Female gender, no signs of tonsillopharyngitis, white blood cell count < or =10,000/mm3 and AST > or =150 IU/L were significant risk factors for the occurrence of complications. Clinicians should monitor such patients closely and give proper treatment to decrease possible morbidity or even mortality should complications occur.
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PMID:Epstein-Barr virus-associated infectious mononucleosis and risk factor analysis for complications in hospitalized children. 1611 72

Encoded by the peptidase D (PEPD) gene located at 19q12-q13.11, prolidase is a ubiquitous cytosolic enzyme that catalyzes hydrolysis of oligopeptides with a C-terminal proline or hydroxyproline. We describe here four Amish children with a severe phenotype of prolidase deficiency in the Geauga settlements of Ohio as the first report of prolidase deficiency in the Amish population as well as in the United States. The patients presented with infection, hepatosplenomegaly, or thrombocytopenia, in contrast to most cases previously reported in the literature, presenting with skin ulcers. All four patients had typical facial features, classic skin ulcers, and multisystem involvement. Recurrent infections, asthma-like chronic reactive airway disease, hyperimmunoglobulins, hepatosplenomegaly with mildly elevated aspartate transaminase (AST), anemia, and thrombocytopenia were common and massive imidodipeptiduria was universal. Prolidase activity in our patients is nearly undetectable. Direct sequencing of PCR-amplified genomic DNA for all of the exons from the four patients revealed the same homozygous single nucleotide mutation c.793 T > C in exon 11, resulting in a premature stop-codon at amino acid residue 265 (p.R265X). It is speculated that the severe phenotype in these patients might be associated with the type of the PEPD gene mutation.
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PMID:A nonsense mutation of PEPD in four Amish children with prolidase deficiency. 1647 Jul 1

A 17-year-old girl previously in good health presented with a 2-month history of recurrent, high-grade fever; general fatigue; anorexia; a 10-kg weight loss; and multiple, painful, reddish skin lesions on the lower abdomen. Some lesions were ulcerated, with an oily yellowish brown discharge. A systemic review was unremarkable other than bleeding from the nose. Her medical and family histories were unremarkable. On examination, the patient was pale, jaundiced, and febrile (temperature of 39 degrees C). She had enlarged lymph nodes in the axillary and inguinal areas. There was moderate hepatosplenomegaly. Local skin examination revealed multiple erythematous, tender, and firm subcutaneous nodules of variable size (1-2 cm) on the lower abdomen. Some nodules were ulcerated, with oily yellowish brown discharge and overlying ecchymosis (Figures 1 and 2). Mucous membranes were free of lesions. Laboratory investigations showed pancytopenia, an elevated erythrocyte sedimentation rate (>80 mm/h), normal renal function tests, abnormal hepatic function tests (alanine aminotransferase 172 U/L, aspartate aminotransferase 229 U/L, alkaline phosphatase 725 U/L, and total bilirubin 100 mmol/L [normal range 0-18 mmol/L]), conjugated bilirubin 45 mmol/L (normal range 0-5 mmol/L), and high triglycerides 855 mg/dL (normal range 20-200 mg/dL). Prolonged prothrombin time, 26 seconds (normal range 13-16 seconds); prolonged activated partial thromboplastin time, 61 seconds (normal range 26-38 seconds); positive disseminated intravascular coagulation studies evidenced by low fibrinogen, 74 mg/dL (normal range 160-350 mg/dL); and positive fibrinogen degradation products were also noted. Throat, midstream urine, and blood culture results were negative. Serologic tests for syphilis, HIV, and hepatitis B and C viruses were negative. Epstein-Barr virus and cytomegalovirus serologic values revealed evidence of past infection. Tuberculin and Coombs tests were negative. The alpha1-antitrypsin level was normal. Antinuclear and anti-smith antibodies, rheumatoid factor, and cryoglobulins were negative. CT showed enlarged lymph nodes in the axillary and inguinal areas, bilateral small pleural effusion, moderate hepatosplenomegaly, severe fatty infiltration of the liver, and thickening of lower abdominal subcutaneous tissue. A liver biopsy showed steatohepatitis. Bone marrow aspirate and trephine were normal. A deep punch biopsy of a nodule from the right lower abdomen revealed lobular panniculitis with atypical lymphocytes and large macrophages with cytophagocytosis ("beanbag" cells) (Figures 3 and 4). Immunohistochemistry showed that these atypical cells were positive for CD3, CD8, granzyme B, and perforin, and negative for CD56. T-cell gene rearrangement studies on skin lesions revealed a monoclonal T-cell receptor (gamma-chain) gene rearrangement, supporting the diagnosis of subcutaneous panniculitis-like T-cell lymphoma. On presentation, the initial treatment included 6 U of fresh frozen plasma, 2 U of packed red blood cells, and 2 g IV fibrinogen for 3 consecutive days. The patient was started on prednisolone 60 mg orally once daily and cyclosporine A 5 mg/kg/d orally in two divided doses. The fever and other systemic symptoms and skin lesions resolved within 2 weeks after the treatment. The prednisolone dose was tapered gradually, and a maintenance dose of cyclosporine A was continued. The patient's condition remained in remission at 12-month follow-up; there was no evidence of clinical relapse.
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PMID:Subcutaneous panniculitis-like T-cell lymphoma with hemophagocytic syndrome successfully treated with cyclosporin A. 1685 14

It is generally accepted that the risk for fetal infection is greatest with maternal primary cytomegalovirus CMV infection and much less likely with recurrent infection. Here, we report a fatal case of congenital CMV infection following recurrent maternal infection after a 7-year interval. A 3-month-old female baby presented with fever, jaundice, vomiting and stopping breast-feeding. Physical examination revealed mild respiratory distress, hepatosplenomegaly, microcephaly and growth retardation. Laboratory examination included bilirubin concentrations Total: 7.17 mg/dl; conjugated 6.67 mg/dl, aspartate transaminase 141 IU, and alanine transaminase 499 IU. Enzyme-linked immunosorbent assay test results revealed + CMV IgM and + CMV IgG. She died on the 10th day of admission with the diagnosis of CMV hepatitis, pneumonia, and multi-organ failure. Nuclear and cytoplasmic inclusions were demonstrated in the lung, liver and brain on postmortem biopsy. This case highlights that the outcome of babies born to mothers with recurrent maternal CMV infection may be more severe and fatal than previously thought.
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PMID:Fatal congenital cytomegalovirus infection following recurrent maternal infection after a 7-year interval. 1726 7


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