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)

In the present study, we aimed to carry out an epidemiological and entomological survey on a visceral leishmaniasis (VL) focus located on the northern central part of Anatolia, Turkey. Five villages of Corum province, where five confirmed cases of human visceral leishmaniasis (HVL) (one patient/village) were reported between June 1998 and August 2001 were included in the study. A total of 625 children and 131 dogs were sampled and the physical examination was carried out by authorized physicians and veterinarians. An indirect fluorescent antibody test (IFAT) was performed by standard procedures for human and dog sera, while the direct agglutination test (DAT) was only performed for dog sera. Sand fly collection was performed in three villages by CDC miniature light traps. Hepatosplenomegaly and hepatomegaly were detected in two and eight children, respectively. The seropositivity rate among children was found to be 0.16% (1/625) in the region. The seroprevalence of canine infection in these five villages ranged between 0.0% and 28.26%. In two villages, named Ahlatcik and Asagifindikli, no seropositive dogs were found. A total of 1218 sand flies were collected throughout the study. Six species of Phlebotomus were identified: P. transcaucasicus, P. neglectus, P. halepensis, P. tobbi, P. papatasi, and P. jacusieli. P. transcaucasicus was found to be the predominant species in Cevizli (47.44%; 343/723) and Ucoluk (79.95%; 351/439) villages, while P. tobbi was abundant in Kucukerikli (42.85%; 24/56).
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PMID:Serological and entomological survey in a zoonotic visceral leishmaniasis focus of North Central Anatolia, Turkey: Corum province. 1571 53

The major pathology in sickle cell anaemia (SCA) is sickling of red cells due to the precipitation of reduced haemoglobin. We report our experience with extract of Cajanus cajan as a possible antisickling agent by determining changes, if any, in clinical and laboratory features of the disease in patients given the extract in a single-blind placebo-controlled study. One hundred patients with steady-state SCA were randomized into treatment and placebo arms. The extract/placebo were administered twice daily to the subjects. Weight, hepatosplenomegaly, blood levels of biliurubin, urea, creatinine, and packed cell volume (PCV) were monitored over a 6-month period. Recall episodes of pain 6 months before enrolment were compared with episodes of pains recorded during the treatment period. Twenty-six cases (55.3 per cent) had hepatomegaly on enrolment. This significantly reduced to 33.3 per cent at 6 months (p = 0.03); but increased in the placebo arm (p > 0.05). The total number of recall painful episodes in cases was 207 (mean 4.4 +/- 10.3 (SD), range 0-60) and fell to 191 (mean 4.2 +/- 4.4 (SD), range 0-16); p = 0.03. Episodes of pain increased from 109 in controls (mean 2.6 +/- 5.0 (SD), range 0-26) to 164 (mean 3.9 +/- 4.3 (SD), range 0-22); p = 0.01. Mean PCV in the cases showed no appreciable changes (p = 0.1) but there was a significant increase in the controls (p = 0.02). In conclusion, the extract may cause a reduction of painful crises and may ameliorate the adverse effects of sickle cell anaemia on the liver. The mechanism of action remains to be determined.
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PMID:Clinical evaluation of extract of Cajanus cajan (Ciklavit) in sickle cell anaemia. 1591 66

Chronic lymphocytic leukemia (CLL), which is the most common leukemia in adult population in the Western world, is surprisingly rare in Thailand. The objective of our study was to retrospectively analyze the clinical presentations and outcome of a large cohort of Thai CLL patients diagnosed at a single institution in Bangkok, Thailand, from 1963-1998. One hundred and eighty-four patients were included in the study. The most frequent age group was 60-80 years old with the male to female ratio of 2:1. Only 12% of patients were younger than the age of 50. Most patients were from the central agricultural region of Thailand. Clinical findings at presentation included splenomegaly (64%), lymphadenopathy (60%), anemia (54%), hepatomegaly (49%), fatigue (39%), weight loss (33%), fever (21%), thrombocytopenia (18%), and anorexia (8%). Only 8% of Thai CLL patients were asymptomatic at presentation. The majority of patients were categorized as stages III and IV with the median survival of 20 months and 8 months, respectively. Infection was the most common cause of death, particularly in the elderly patients who had comorbid illnesses. Twenty-two percent of the patients had associated autoimmune disorders. The unfavorable prognostic factors observed were older age (> 70 years), weight loss and hepatosplenomegaly. We concluded that the age and gender of Thai CLL patients were similar to those of the Western countries but our patients came to medical attention at a later and more advanced stage. Prospective studies at a multi-center level in Thailand should be pursued to investigate further the genetic and epidemiologic nature of Thai CLL patients.
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PMID:Clinical presentation and outcome of Thai patients with chronic lymphocytic leukemia: retrospective analysis of 184 cases. 1657 39

Cholesteryl ester storage disease (CESD) is an autosomal recessive disorder resulting from lysosomal acid lipase deficiency and is usually characterized by hepatomegaly and hyperlipidemia. This paper reports a two-year-old boy who had hepatosplenomegaly, hyperlipidemia and hypertransaminasemia determined incidentally. The liver biopsy sample was orange-yellow in appearance. Microscopically, microvesicular steatosis and birefringent crystals were seen in liver biopsy. The diagnosis of CESD was confirmed by the reduced human acid lipase activity in peripheral leukocytes. Simvastatin therapy was given and tolerated without side effects. Our patient is the youngest reported case in the literature treated with 3-hydroxy 3-methyl glutaryl (HMG) CoA reductase inhibitor.
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PMID:Cholesteryl ester storage disease in a young child presenting as isolated hepatomegaly treated with simvastatin. 1684 16

Laboratory diagnosis of lysosomal storage disorders, especially sphingomyelinase deficiency (Niemann-Pick disease type A/B) and Niemann-Pick disease type C (NPC) can be challenging. We therefore aimed to analyse the feasibility of first-step screening with specific chitotriosidase cut-off values in children </= 10 years of age with visceral organomegaly (hepatomegaly, splenomegaly, or hepatosplenomegaly) in whom a storage disorder was suspected. We conducted a retrospective, cross-sectional, referral, single-centre study to assess diagnostic test properties in 106 individuals. Median chitotriosidase activity was 12 655 nmol/h per ml (interquartile range 4693-20982) in Gaucher disease (GD); 780 (465-1298) in SMD (sphingomyelinase deficiency); 925 (319-1215) in NPC and 50 (29-54) in patients with miscellaneous diseases. To restrict the differential diagnosis to GD, SMD or NPC, chitotriosidase activity above 200 nmol/h per ml had a sensitivity of 96%, specificity of 100%, positive predictive value (PPV) of 100%, and negative predictive value (NPV) of 95%. For GD alone, chitotriosidase activity above 4000 nmol/h per ml had a sensitivity of 77%, specificity of 100%, PPV of 100% and NPV of 92%. Of the 44 patients analysed, 4.5% were homozygous and 36.4% heterozygous for chitotriosidase gene duplication. Adjusting for the chitotriosidase genotype, chitotriosidase activities were higher in GD type III than in GD type I. We conclude that, in the above setting, the degree of elevation of chitotriosidase activity can be applied to increase the likelihood of GD, SMD, or NPC and guide the choice of the appropriate confirmatory assay.
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PMID:Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C. 1697 72

Transaldolase (TALDO) deficiency is a newly recognized metabolic disease, which has been reported so far in 2 patients presenting with liver failure and cirrhosis. We report a new sibship of 4 infants born to the same consanguineous parents; all presented at birth or in the antenatal period with dysmorphic features, cutis laxa and hypertrichosis, hepatomegaly, splenomegaly, liver failure, hemolytic anemia, thrombocytopenia, and genitourinary malformations. The clinical courses were variable: the first child died of liver failure at 4 months of age; the second pregnancy was medically terminated at 28 weeks gestation because of hydrops fetalis with oligohydramnios. The third child is doing well at age 7 with liver fibrosis and mild kidney failure. The fourth child is now 21 months old and has hepatosplenomegaly, mild anemia, and thrombocytopenia. Urine assessment of polyols showed elevations of erythritol, arabitol, and ribitol consistent with TALDO deficiency. TALDO activity was undetectable in the patients' tissues, and mutation in the TALDO1 gene was found in the 4 patients.
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PMID:Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease. 1709 51

The study was carried out on 2136 individuals from Abo El-Gohoor village. Their ages ranged from 1-72 years with a mean of 28.3 +/- 22.4 years. They were 46.7% males and 53.3% females. The village was divided into sectors. The inhabitants of each sector were examined clinically with history taking through home visits. Three successive stool samples for each individual were examined by the concentration technique. Abdominal ultrasound was done for hepatic and splenic assessment. Rectal biopsy was done for 200 subjects with negative stool samples for Schistosoma mansoni (S. mansoni) ova. Sex distribution was equal in this group. Their ages ranged from 18 to 45 years with a mean of 30.1 +/- 9.5 years. S. mansoni prevalence was 19.3% of individuals through stool examination and 12.5% out of 200 individuals with active schistosomiasis after rectal biopsy (the total prevalence was approximately 29.4%). Hepatic schistosomiasis was 18.8%. Hepatomegaly, hepatosplenomegaly, hepatic fibrosis without and with ascites were 6.0%, 8.8%, 2.5% and 1.5% of examined patients, respectively. The prevalence of intestinal parasites was 37.5% and 27.8% for E. histolytica and G. lamblia, respectively, 9.2% for H. nana, 6.2%, 9.6%, 2.4% and 1.5% for A. lumbricoides, E. vermicularis, T. trichura and A. duodenale, respectively and F. gigantica was 0.4%. A total of 84.6% of examined subjects had parasitic infestations, 60.2% had one parasite, 19.6% had 2 parasites, 4.2% had 3 parasites and 0.7% had 4 parasites. The study revealed some success of governmental efforts for control of schistosomiasis. The prevalence of S. mansoni through stool examination showed a prevalence lower than that reported before but which does not represent the actual prevalence of S. mansoni and rectal biopsy in addition gave more accurate results.
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PMID:Prevalence of schistosoma mansoni and intestinal parasites with evaluation of hepatic schistosomiasis in a rural area after governmental efforts (Gharbia governorate). 1721 48

Niemann-Pick type C1 (NPC1) disease is an autosomal-recessive cholesterol-storage disorder characterized by liver dysfunction, hepatosplenomegaly, and progressive neurodegeneration. The NPC1 gene is expressed in every tissue of the body, with liver expressing the highest amounts of NPC1 mRNA and protein. A number of studies have now indicated that the NPC1 protein regulates the transport of cholesterol from late endosomes/lysosomes to other cellular compartments involved in maintaining intracellular cholesterol homeostasis. The present study characterizes liver disease and lipid metabolism in NPC1 mice at 35 days of age before the development of weight loss and neurological symptoms. At this age, homozygous affected (NPC1(-/-)) mice were characterized with mild hepatomegaly, an elevation of liver enzymes, and an accumulation of liver cholesterol approximately four times that measured in normal (NPC1(+/+)) mice. In contrast, heterozygous (NPC1(+/-)) mice were without hepatomegaly and an elevation of liver enzymes, but the livers had a significant accumulation of triacylglycerol. With respect to apolipoprotein and lipoprotein metabolism, the results indicated only minor alterations in NPC1(-/-) mouse serum. Finally, compared to NPC1(+/+) mouse livers, the amount and processing of SREBP-1 and -2 proteins were significantly increased in NPC1(-/-) mouse livers, suggesting a relative deficiency of cholesterol at the metabolically active pool of cholesterol located at the endoplasmic reticulum. The results from this study further support the hypothesis that an accumulation of lipoprotein-derived cholesterol within late endosomes/lysosomes, in addition to altered intracellular cholesterol homeostasis, has a key role in the biochemical and cellular pathophysiology associated with NPC1 liver disease.
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PMID:Characterization of liver disease and lipid metabolism in the Niemann-Pick C1 mouse. 1721 1

Much of the inflammatory response of the body to bloodborne Gram-negative bacteria occurs in the liver and spleen, the major organs that remove these bacteria and their lipopolysaccharide (LPS, endotoxin) from the bloodstream. We show here that LPS undergoes deacylation in the liver and spleen by acyloxyacyl hydrolase (AOAH), an endogenous lipase that selectively removes the secondary fatty acyl chains that are required for LPS recognition by its mammalian signaling receptor, MD-2-TLR4. We further show that Kupffer cells produce AOAH and are required for hepatic LPS deacylation in vivo. AOAH-deficient mice did not deacylate LPS and, whereas their inflammatory responses to low doses of LPS were similar to those of wild type mice for approximately 3 days after LPS challenge, they subsequently developed pronounced hepatosplenomegaly. Providing recombinant AOAH restored LPS deacylating ability to Aoah(-/-) mice and prevented LPS-induced hepatomegaly. AOAH-mediated deacylation is a previously unappreciated mechanism that prevents prolonged inflammatory reactions to Gram-negative bacteria and LPS in the liver and spleen.
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PMID:A host lipase detoxifies bacterial lipopolysaccharides in the liver and spleen. 1732 64

Subcutaneous panniculitic T-cell lymphoma (SPTL) is a rare variant of cutaneous T-cell lymphoma where lymphoma cells infiltrate preferentially into subcutaneous tissue. Five cases of SPTL were seen during the period from 2001-2004 at the Department of Dermatology, Hospital Kuala Lumpur. All five presented with multiple subcutaneous nodules on the face, trunk and limbs of one week to six months duration with associated fever and loss of weight. Physical examination showed multiple tender, erythematous indurated plaques and subcutaneous nodules on their face, trunk and limbs. One patient also presented with unhealing ulcerated nodules. Two patients had hepatosplenomegaly and one hepatomegaly. Two patients had pancytopaenia while the other three had leucopaenia. One patient had deranged liver function. Out of the five patients, three had bone marrow examination with haemophaegocytosis in two and one hypocellular marrow. Skin biopsy of all patients showed infiltration with atypical lymphoid cells in the upper dermis and subcutaneous fat. These neoplastic cells showed positivity for CD3 and CD30 in three patients with CD8, TIA-1 and LCA (Leucocyte common antigen) being positive in one patient. One patient treated with prednisolone and subcutaneous Roferon 3Mu three times a week since 2001 was in remission. Two patients who were planned for chemotherapy had deteriorated rapidly and succumbed to septicaemia from pancytopaenia. Subcutaneous panniculitic T-cell lymphoma has been reported to show two distinct clinical presentations. The first is characterized by an indolent course with good prognosis and the second with rapid clinical deterioration, haemophaegocytosis and death. Both presentations were seen in our five patients seem to demonstrate these two subtypes of SPTL.
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PMID:Subcutaneous panniculitic T-cell lymphoma-review of five cases. 1762 60


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