Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Liver examination performed in seven patients who had renal failure related to light chain deposits demonstrated in all cases the presence of liver light chain deposits. In all of our patients clinical renal involvement antedated the liver disease. The portal areas and the Disse spaces contained a granular material which strongly reacted with antilight chain antiserum (kappa or gamma). In one patient in whom lesions were severe, the sinusoid edge was ruptured and a pelliosis -like lesion was observed. In the five patients who were hemodialyzed for more than several months at the time of discovery of liver deposits, increased amounts of collagen were present in the Disse spaces, and one patient had extensive liver fibrosis by light microscopy. Clinical liver involvement was defined by moderate hepatomegaly in five patients, with ascites in two. A slight increase in phosphatase alkaline activity was frequently observed and bromsulphalein retention was present in two. In one patient liver tests remained entirely normal despite the presence of diffuse kappa light chain deposits.
 ...
PMID:Liver involvement in nonamyloid light chain deposits disease. 642 20

Early trials of allogeneic bone marrow transplantation (BMT) for homozygous beta-thalassemia and the analyses of results of transplantation in patients less than 16 years old have allowed us to identify three classes of risk based on the following criteria: (a) hepatomegaly, (b) presence of liver fibrosis at histological examination, and (c) quality of chelation treatment given before transplant. Patients with none of these adverse criteria were assigned to Class 1; patients with either one or two adverse criteria comprised Class 2; and patients for whom all three criteria were adverse constituted Class 3. Most patients older than 16 years have disease characteristics that place them in Class 3, with very few falling into Class 2. All patients with a histocompatibility leukocyte antigen (HLA)-identical donor are actually assigned to one of two conditioning regimens on the basis of the class they belong to at the time of BMT and independently of age. For Class 1, Class 2, and Class 3 patients, the probabilities of survival and event-free survival are 95 and 90%, 86 and 82%, and 87 and 63%, respectively. For those patients older than 16 years at the time of transplant, the probabilities of survival and of event-free survival are 78 and 74%, respectively. Allogeneic BMT is currently the only rational therapeutic modality for the eradication of beta-thalassemia.
 ...
PMID:Bone marrow transplantation in thalassemia. 759 68

Hepatic fibrosis due to schistosomiasis japonica was examined by ultrasonography in a cross-sectional community study of 825 individuals on Jishan Island, Jiangxi Province, China. The prevalence of active infection was 39.4% with peak infection in the 10-19.9 years age group followed by a significant decline. A similar pattern was observed for intensity of infection. The prevalence of hepatomegaly in the midsternal line > or = 6 cm peaked at 60% in the fourth decade and remained elevated. A progressive increase in the severity of hepatic periportal fibrosis was observed with age, with advanced fibrosis peaking in the fifth decade. The proportion of individuals with advanced fibrosis was significantly greater in males than in females despite equivalent prevalence and intensity of schistosome infection. In addition, a positive association (P < 0.01) was found between periportal fibrosis and both hepatomegaly > or = 6 cm and splenomegaly. This study suggests that the natural history of schistosomiasis japonica in this hyperendemic community in China is marked by persistence of hepatomegaly and schistosome-induced periportal fibrosis in adults despite a decrease in the prevalence of infection.
 ...
PMID:Schistosomiasis japonica on Jishan Island, Jiangxi Province, People's Republic of China: persistence of hepatic fibrosis after reduction of the prevalence of infection with age. 823 95

Previous attempts to assess the health impact of schistosomiasis control programs on community morbidity have been limited by a lack of a theoretical framework that describes the dynamic relationships between infection and morbidity. In this paper, a model of schistosomal morbidity is developed and parameterized. Morbidity is divided into that due to current heavy infection, and early and late stages of chronic disease. The model was parameterized using data showing resolution of disease after treatment, correlations between prevalence of disease and intensity of infection and using age-morbidity profiles. The fitted parameters suggest that early manifestations of disease such as hepatomegaly in Schistosoma mansoni and S. japonicum infections would resolve relatively quickly following treatment whereas later forms of disease such as liver fibrosis resolve very slowly or not at all. Similar general conclusions were obtained with data on early and late forms of urinary tract morbidity in S. haematobium.
 ...
PMID:Dynamic models of schistosomiasis morbidity. 870 23

The survival probability is 79% for patients with neuroblastoma stage 4S treated according to the German Society for Pediatric Oncology and Hematology (GPOH) treatment studies. Most of these patients (80%) have liver metastases. Patients are grouped according to their condition at diagnosis and tumour resectability to different risk groups (A, B, C). Chemotherapy is provided for patients who are initially diagnosed as critically ill, caused for example by excessive hepatomegaly due to liver metastases. The aim of this study is to clarify whether liver infiltration is associated with liver dysfunction and whether chemotherapy plays a role in this process. Hepatopathy was diagnosed when clinical signs were present and/or liver function tests revealed pathologic results. The charts of 48 patients (22 boys, 26 girls) diagnosed between 1990 and 1994 from the ongoing NB-90 treatment study were evaluated retrospectively. Median age at diagnosis was 52 days (range: 1-328). 41 patients (85%) had liver infiltration, 26 patients (54%) had bone marrow involvement and in nine patients (19%) skin metastases were found. 12 patients were in poor general condition at diagnosis (risk group C). 36 of 48 patients (75%) received chemotherapy, three children were treated with radiotherapy additionally, due to massive liver enlargement. 15 patients (31%) had signs of hepatic dysfunction at diagnosis or during their illness, 14 of these had liver metastases. All these 15 patients were treated with chemotherapy. 12 of 15 patients with hepatopathy were younger than two months at diagnosis. Five patients with liver dysfunction were not critically ill at diagnosis. Hepatomegaly > or = 6 cm was present in 10 of 15 patients with liver dysfunction. Hepatopathy was transient in eight patients, four patients died soon of multiorgan failure during progression of disease. Three children developed liver fibrosis with conversion to cirrhosis. Hepatopathy was correlated with distribution to risk groups (A and B (5/36) vs. C (10/12), p < 0.001). The appearance of hepatic dysfunction in patients with neuroblastoma stage 4S remains a serious problem especially for young children with excessive hepatic infiltration. Liver dysfunction was of short duration and reversible in most patients, however, even with age-adapted dosages of chemotherapy long-standing cases of hepatopathy were observed. A general recommendation for treatment strategy in this heterogeneous patient group is difficult. Attention should be given to for this complication.
 ...
PMID:[Hepatopathy in patients with stage 4S neuroblastoma]. 892 87

We report on two sibs with syndromal congenital iron storage disease. Prenatal symptoms were IUGR, hydramnios, and placental hyperplasia. Clinical anomalies included hypertelorism and sparse, thin, curly hair (trichomalacia). Clinical course was marked by intractable diarrhoea, with normal histological and enzymological studies, cholestatic jaundice, hepatomegaly appearing after 30 days, and progressive liver failure, leading to death after a few months. The only metabolic anomaly was progressive hypermethioninemia. Pathologic examination of both children showed a similar pattern of multivisceral iron deposit compatible with a diagnosis of neonatal hemochromatosis: extensive liver fibrosis or cirrhosis with nodular regeneration, cholestasis, ductular proliferation, and hepatic, pituitary, thyroidal, adrenal, and pancreatic iron deposition. The unusual course for neonatal hemochromatosis in both sibs combined with concordant extrahepatic anomalies suggest that they could have a specific iron storage syndrome with possible autosomal recessive inheritance, probably similar to the sibship reported by Stanckler et al. [Arch Dis Child, 57:212-216, 1982].
 ...
PMID:Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies. 902 Oct 8

Early trials with the analysis of results in patients less than 16 years old have allowed us to identify three classes of risk using the criteria of degree of hepatomegaly, the degree of liver fibrosis, and the quality of chelation treatment given before transplant. The posttransplant disease-free survival for patients in risk classes I, II, and III and adults is today 93%, 85%, 64%, and 82%, respectively. Bone marrow transplantations, from mismatched donors and unrelated phenotypically identical donors are still experimental procedures. Bone marrow transplantation represents a desirable option of cure for severe forms of the disease when an HLA-identical donor is available. The posttransplant clinical follow-up of these patients is of particular interest in managing growth, endocrinal problems, iron overload, and normal quality and expectancy of life posttransplant. This purpose seems attainable particularly for those patients who have received transplants earlier, when histological damage of the liver and endocrine organs is not yet present.
 ...
PMID:Bone marrow transplantation in the treatment of thalassemia. 937 Dec 77

The paper describes the endemic situation of schistosomiasis japonica in Fanhu village, Poyang Lake region, China and the effect of the strategy of combining annual mass chemotherapy with health education on schistosomiasis control in the community. The results showed that the prevalence of infection with schistosome reduced form 26.0% in 1992 to 10.7% in 1994, the intensity of infection in residents decreased from 1.92 in 1992 to 0.55 in 1994 and the condition of hepatomegaly, splenomegaly and liver fibrosis also improved after chemotherapy in the individuals in the case prospective study. Moreover, the future strategies of schistosomiasis control in this area have been suggested according to the transmission of schistosomiasis in the lake region and the effect of anti-schistosomiasis control indifferent populations.
 ...
PMID:Impact mass chemotherapy with praziquantel on schistosomiasis control in Fanhu village, People's Republic of China. 944 5

We report the case of a two-year-old girl presenting with recurrent episodes of fever and hepatomegaly. High resolution ultrasound (US) and computed tomography (CT) of the liver show dilated intrahepatic bile ducts with bridge formation and intraluminal protrusions. The extrahepatic bile duct is normal. The diagnosis of irregular dilated bile ducts with signs of cholangitis and cholangiolitis is proved by liver biopsy. The histologically associated congenital liver fibrosis in our patient enter into the Caroli's syndrome. We illustrate the high resolution US and the CT findings in this case.
 ...
PMID:Caroli's syndrome. 956 64

Genetic hemochromatosis is an autosomal recessive disease, characterized by an increased iron absorption, leading to progressive iron overload. The fully expressed phenotype comprises fatigue, skin pigmentation, liver disease with hepatomegaly, cirrhosis and hepatocellular carcinoma, and diabetes. Arthralgias are frequent, cardiopathy or impotence may occur. This presentation is now unfrequent with earlier diagnosis, and patients are often asymptomatic--with only biochemical expression--or pauci-symptomatic (mild fatigue, arthralgias or increased transaminases). Transferrin saturation is always increased. Serum ferritin is proportional to iron burden. Diagnosis is now easy, since most patients are homozygote for the C282Y mutation of the HFE gene. Liver biopsy can be useful to quantify iron overload and assess liver fibrosis. The disease can be lethal due to liver disease, carcinoma or heart disease, but life expectancy goes to normal if patients are treated before the occurrence of cirrhosis. Treatment relies on regular venesections. Familial screening is essential.
 ...
PMID:[Diagnosis and treatment of genetic hemochromatosis]. 1086 97


<< Previous 1 2 3 4 5 6 7 Next >>