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 influence of genetic factors on the modulation of hepatosplenomegaly, portal venous pressure and granuloma size in chronic murine schistosomiasis mansoni was studied. Experiments with congenic mice confirmed previous observations that after 8 weeks of infection these disease manifestations are influenced by non-H-2 genes. During chronic infection (20 weeks compared to 8 weeks of infection), hepatosplenomegaly was minimally altered. Portal venous pressure was found to increase in 129/J and BALB/cJ mice, did not change in C57BL/6J and DBA/2J and decreased in CBA/CaJ mice. Simultaneous measurements of granuloma size delineated two groups: decrease of greater than 40%--C57BL/6J, DBA/2J and CBA/CaJ strains and decrease of less than or equal to 20%--129/J, BALB/cJ and C3H/HeJ mice. There was no consistent correlation between the magnitude or direction of alterations in portal pressure and granuloma size among the various strains studied. Furthermore, these alterations were independent of changes in parasite burden (adult worms or hepatic eggs). This amelioration of disease (modulation) was found to be influenced by a small number of non-H-2 genes.
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PMID:Further studies on genetic variation of hepatosplenic disease and modulation in murine schistosomiasis mansoni. 401 Dec 97

Glycogen storage disease type IV (GSD-IV) is a rare autosomal recessive disease caused by a deficiency of glycogen branching enzyme (GBE) activity. This results in the accumulation of abnormal glycogen in the liver and other organs. We report the case of a 14-month-old female patient with typical hepatic pathologic findings of GSD-IV. The patient suffered from decreased muscle tone and progressive hepatosplenomegaly since birth. A wedge biopsy of the liver showed enlarged hepatocytes with colorless to faintly eosinophilic ground glass intracytoplasmic inclusions. Portal fibrosis and lobular, fibrous septa were present. Ultrastructure of the inclusions revealed non-membrane-bound fibrillar material 5 nm in maximal diameter. Enzyme study revealed a total deficiency of GBE activity.
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PMID:Glycogen storage disease type IV: a case report. 1053 7

The study was conducted to assess infection intensity and morbidity due to Schistosoma mansoni in schoolchildren on Ukerewe Island in Lake Victoria, Tanzania, East Africa. Three hundred and sixty pupils who have never been treated previously were enrolled (180 males/180 females, age 6-17 years [median 10 years]) in three different schools of the island. Double stool samples were collected from each pupil and egg excretion was classified according to WHO recommendations. Ultrasound investigations were performed in accordance with the WHO Niamey-Belo-Horizonte protocol. Male (112/180, 62.2%) and female (104/180; 57.7%) pupils were infected (difference, not significant [n.s.]). In the positive 216 cases, egg excretion varied from 1 to 2,440 eggs per gramme stool (epg) [median 165 epg]. There were 69/216 (31.9%) who had a low grade, 105/216 (53.2%) had a moderate and 42/216 (14.8%) had a heavy infection. There was no significant difference between male and female sex nor with regard to age groups. There were 354/360 children who underwent sonography: 321 (90.7%) had splenomegaly, 316 (89.3%) showed a left lobe and 109 (30.9%) had a right lobe hepatomegaly. Overt signs of portal fibrosis (PF) were present in 19 children (5.4%) out of whom 11 presented with echogenic thickening of peripheral portal and 8 with thickening of central portal branches. Non-specific portal wall changes were seen in 6 children (1.7%). Association of PF to quantitative egg excretion was not seen (median in PF, 172 epg vs. median in non PF, 168 epg; difference, n.s.). Portal vein dilatation was seen in 101/354 (28.5%) cases. In Ukerewe, the prevalence of S. mansoni infection and infection intensity in children is high, yet overt hepatic morbidity is low as compared to other endemic foci. Non-specific ultrasonographic abnormalities including hepatosplenomegaly and portal vein dilatation were seen frequently but the fraction attributable to schistosomiasis is difficult to assess.
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PMID:Hepatosplenic morbidity due to Schistosoma mansoni in schoolchildren on Ukerewe Island, Tanzania. 2221 93

Arterial aneurysms are more common than visceral venous aneurysms. Portal vein aneurysms being the most common type of visceral venous aneurysms. Here, we present an 18-year-old young woman with thalassaemia major, who presented with headache, palpitation, shortness of breath and a recent increase in blood transfusion rate. On clinical examination, she had hepatosplenomegaly. Ultrasonography revealed hepatosplenomegaly with fusiform dilatation of extrahepatic portal vein, which was confirmed to be portal vein aneurysm on contrast enhanced CT. Though portal vein aneurysms were previously thought to be rare, recently they are increasingly diagnosed with the use of cross-sectional imaging. Recognition of this finding can help to avoid potential confusion with other periportal cystic masses of different aetiologies, especially on sonography.
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PMID:Portal vein aneurysm in thalassaemia. 2880 22