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Sample records for hepatomegaly

  1. Hepatomegaly

    MedlinePlus

    ... biliary cirrhosis Reye syndrome Sarcoidosis Sclerosing cholangitis Steatosis (fat in the liver from metabolic problems such as diabetes, obesity, and high triglycerides, also called nonalcoholic steatohepatitis, or ...

  2. Dexamethasone-induced hepatomegaly and steatosis in larval zebrafish.

    PubMed

    Yin, Guojun; Cao, Liping; Du, Jinliang; Jia, Rui; Kitazawa, Takio; Kubota, Akira; Teraoka, Hiroki

    2017-01-01

    Fish hepatobiliary syndrome, characterized by hepatomegaly and fatty liver, has been frequently reported in many cultured fish species and has caused a dramatic economic loss in China. Glucocorticoids are thought to be important non-nutritional factors for hepatomegaly and fatty liver development. In the present study, a dexamethasone-induced zebrafish model of fatty liver and hepatomegaly was established, and the role of glucocorticoid receptor (GR) in the development of hepatomegaly and fatty liver was investigated using developing zebrafish. Exposure of larval zebrafish at 5 days post fertilization (dpf) to dexamethasone for 24 hr caused significant increases of liver size and number of fish with hepatic steatosis at 6 dpf. The increase of liver size caused by dexamethasone was significantly reversed by treatment with RU486, a GR antagonist, and by gene knock-down with a morpholino against the GR. The dexamethasone-induced hepatic steatosis was also inhibited by treatment with RU486. Overall, the results highlight larval zebrafish as a useful model for stress-induced liver failure.

  3. Severe ARDS may cause right heart failure with extreme hepatomegaly but without hepatic failure.

    PubMed

    Søreide, E; Harboe, S; Søndenaa, K

    2002-08-01

    A young trauma patient developed severe adult respiratory distress syndrome (ARDS), right heart failure, hepatic congestion and an extreme hepatomegaly but no hepatic failure. The patient needed 100% oxygen during ventilatory support for 80 days and was weaned from the ventilator after more than 100 days. The hepatomegaly gradually disappeared. Four months after the injury, the anatomical shape of the lungs, heart and liver were normalized. This case illustrates that severe ARDS may cause right heart failure and extreme hepatomegaly due to venous congestion in the liver and spleen, but without hepatic failure.

  4. Congestive Hepatomegaly

    MedlinePlus

    ... or out of the liver? Gallstones Gluten intolerance Heart failure High blood pressure Am I Correct? More Videos News HealthDay Better Efforts Could Help Rid the U.S. of Hepatitis B, C: Report TUESDAY, March 28, 2017 (HealthDay News) -- Improved prevention, screening and treatment could ...

  5. [Hepatomegaly due to glycogen storage disease and type 1 diabetes mellitus].

    PubMed

    Flotats Bastardas, M; Miserachs Barba, M; Ricart Cumeras, A; Clemente León, M; Gussinyer Canadell, M; Yeste Fernández, D; Albisu Aparicio, María A; Carrascosa Lezcano, A

    2007-08-01

    Patients with type 1 diabetes and poor metabolic control can develop hepatomegaly due to intrahepatic glycogen deposition. If these patients also have elevated liver enzymes, dyslipidemia, cushingoid features and delayed growth or sexual maturation, Mauriac syndrome can be diagnosed. This disorder is common and reversible with optimization of insulin therapy. We report three adolescents with type 1 diabetes and a long-standing history of poor glycemic control, who developed hepatomegaly, elevated liver enzymes and dyslipidemia with preserved liver function. One of these patients also had delayed growth and another had hypogonadotropic hypogonadism. Liver ultrasound showed changes suggestive of glycogenosis. In all three patients, optimization of insulin therapy achieved good glycemic control and reversed the manifestations within 2 weeks. The etiology of Mauriac syndrome is controversial since both prolonged hyperglycemia and hyperinsulinization produce glycogen accumulation in the liver. Hypercortisolism (due to ketosis or hypoglycemia) contributes to glycogen storage and also causes growth and sexual maturation delay.

  6. New approaches to the quantitation of hypertrophy and hyperplasia in hepatomegaly.

    PubMed

    Carthew, P; Edwards, R E; Nolan, B M

    1998-12-28

    A histological method utilizing the optical dissector principle has been developed for determining the contribution of hypertrophy and hyperplasia to the hepatomegaly induced by the peroxisome proliferator gemfibrozil. The optical dissector is a technique derived from the 'new stereology' and has been used to estimate the number of hepatocyte nuclear profiles, that are present in a reference volume of tissue. The overall changes due to hypertrophy and hyperplasia in the rat liver after gemfibrozil treatment, did not reach significance, although the zonal hypertrophy change did. This indicated that although there was a 20% increase in liver weight with treatment, the hepatomegaly was caused by a combination of hypertrophy and hyperplasia, neither of which, on its own, was significantly different from the control values. The distinction of hyperplasia from hypertrophy, using a purely histological method, will be useful in assessing whether treatment related sustained hyperplasia is occurring in the liver.

  7. Pharmacological ceramide reduction alleviates alcohol-induced steatosis and hepatomegaly in adiponectin knockout mice

    PubMed Central

    Correnti, Jason M.; Juskeviciute, Egle; Swarup, Aditi

    2014-01-01

    Hepatosteatosis, the ectopic accumulation of lipid in the liver, is one of the earliest clinical signs of alcoholic liver disease (ALD). Alcohol-dependent deregulation of liver ceramide levels as well as inhibition of AMP-activated protein kinase (AMPK) and peroxisome proliferator-activated receptor α (PPAR-α) activity are thought to contribute to hepatosteatosis development. Adiponectin can regulate lipid handling in the liver and has been shown to reduce ceramide levels and activate AMPK and PPAR-α. However, the mechanisms by which adiponectin prevents alcoholic hepatosteatosis remain incompletely characterized. To address this question, we assessed ALD progression in wild-type (WT) and adiponectin knockout (KO) mice fed an ethanol-containing liquid diet or isocaloric control diet. Adiponectin KO mice relative to WT had increased alcohol-induced hepatosteatosis and hepatomegaly, similar modest increases in serum alanine aminotransferase, and reduced liver TNF. Restoring circulating adiponectin levels using recombinant adiponectin ameliorated alcohol-induced hepatosteatosis and hepatomegaly in adiponectin KO mice. Alcohol-fed WT and adiponectin KO animals had equivalent reductions in AMPK protein and PPAR-α DNA binding activity compared with control-fed animals. No difference in P-AMPK/AMPK ratio was detected, suggesting that alcohol-dependent deregulation of AMPK and PPAR-α in the absence of adiponectin are not primary causes of the observed increase in hepatosteatosis in these animals. By contrast, alcohol treatment increased liver ceramide levels in adiponectin KO but not WT mice. Importantly, pharmacological inhibition of de novo ceramide synthesis in adiponectin KO mice abrogated alcohol-mediated increases in liver ceramides, steatosis, and hepatomegaly. These data suggest that adiponectin reduces alcohol-induced steatosis and hepatomegaly through regulation of liver ceramides, but its absence does not exacerbate alcohol-induced liver damage. PMID

  8. Assessment Hepatomegaly and liver Enzymes in 100 Patients with beta Thalassemia Major in Mashhad, Iran

    PubMed Central

    Hashemizadeh, H; Noori, R; kolagari, SH

    2012-01-01

    Background Frequent blood transfusion in patients with beta thalassemia major can lead to iron overload especially in liver. Chronic iron overload could cause cirrhosis of the liver. Transfusion- transmitted hepatitis B and C also could develop cirrhosis in individuals. Materials and Methods The present cross- sectional descriptive study is to assess hepatomegaly and liver enzymes in 100 patients with beta thalassemia major, ages between 2-18 years old. The study was carried out retrospectively. One hundred medical records have chosen from 400 samples of thalassemia major patients, who are under a regular care of the department of sarvar clinic. Results Out of these patients, 55% were male and 45% female. The mean age of thalassemia patients was 10.8± 4.4 years. The mean and S. D of hemoglobin, ferritin, deferoxamine dosage was 8.5 ± 1.5g/dl , 2183 ± 1528 ng , 30 ± 11.16 mg/kg, respectively. Forty six percent of them had hepatomegaly. The mean and S. D of AST and ALT were 95± 70 IU/L and 70 ±35U/L respectively. Splenectomy was performed on 44% of patient. Conclusion Hepatomegaly is one of the most common findings in the thalassemic patient that induced with hemosiderosis and hepatitis. PMID:24575259

  9. Ibuprofen hepatic encephalopathy, hepatomegaly, gastric lesion and gastric pentadecapeptide BPC 157 in rats.

    PubMed

    Ilic, Spomenko; Drmic, Domagoj; Zarkovic, Kamelija; Kolenc, Danijela; Brcic, Luka; Radic, Bozo; Djuzel, Viktor; Blagaic, Alenka Boban; Romic, Zeljko; Dzidic, Senka; Kalogjera, Livije; Seiwerth, Sven; Sikiric, Predrag

    2011-09-30

    Chronic ibuprofen (0.4 g/kg intraperitoneally, once daily for 4 weeks) evidenced a series of pathologies, not previously reported in ibuprofen-dosed rats, namely hepatic encephalopathy, gastric lesions, hepatomegaly, increased AST and ALT serum values with prolonged sedation/unconsciousness, and weight loss. In particular, ibuprofen toxicity was brain edema, particularly in the cerebellum, with the white matter being more affected than in gray matter. In addition, damaged and red neurons, in the absence of anti-inflammatory reaction was observed, particularly in the cerebral cortex and cerebellar nuclei, but was also present although to a lesser extent in the hippocampus, dentate nucleus and Purkinje cells. An anti-ulcer peptide shown to have no toxicity, the stable gastric pentadecapeptide BPC 157 (GEPPPGKPADDAGLV, MW 1419, 10 μg, 10 ng/kg) inhibited the pathology seen with ibuprofen (i) when given intraperitoneally, immediately after ibuprofen daily or (ii) when given in drinking water (0.16 μg, 0.16 ng/ml). Counteracted were all adverse effects, such as hepatic encephalopathy, the gastric lesions, hepatomegaly, increased liver serum values. In addition, BPC 157 treated rats showed no behavioral disturbances and maintained normal weight gain. Thus, apart from efficacy in inflammatory bowel disease and various wound treatments, BPC 157 was also effective when given after ibuprofen.

  10. The quantitative distinction of hyperplasia from hypertrophy in hepatomegaly induced in the rat liver by phenobarbital.

    PubMed

    Carthew, P; Edwards, R E; Nolan, B M

    1998-07-01

    A histological method utilizing the optical dissector principle has been developed for determining the absolute numbers of rat hepatocytes in the liver after treatment with phenobarbital (PB). The optical dissector is a technique derived from the "new stereology" used to measure the number of features, in this case hepatocyte nuclear profiles, that are present in a reference volume of tissue. The method has been applied to distinguish between the hepatomegaly that commonly occurs in rodents after treatment with chemicals, due to an increase in the number of cells caused by cell division (hyperplasia), rather than the size of cells (hypertrophy). In the case of PB treatment, the hepatomegaly was found to be partly due to hypertrophy and partly to hyperplasia after 2 weeks of treatment. While the increase in the absolute number of hepatocytes was not significant after 2 weeks, after 12 weeks of treatment with PB the number of hepatocytes was significantly increased, compared to the controls at that time point. PCNA labeling index measurements of liver hepatocytes confirmed that there was a significant increase in the growth fraction of hepatocytes during PB treatment. The induction of hyperplasia can be associated with an increased risk of eventual liver tumor formation, and the distinction of hyperplasia from hypertrophy, using a purely histological method, for the determination of increases in absolute hepatocyte cell numbers, will be useful in assessing whether treatment-related sustained hyperplasia is occurring in the liver, although this methodology could be applied to any organ.

  11. Peliosis hepatis presenting with massive hepatomegaly in a patient with idiopathic thrombocytopenic purpura.

    PubMed

    Kim, Sun Bean; Kim, Do Kyung; Byun, Sun Jeong; Park, Ji Hye; Choi, Jin Young; Park, Young Nyun; Kim, Do Young

    2015-12-01

    Peliosis hepatis is a rare condition that can cause hepatic hemorrhage, rupture, and ultimately liver failure. Several authors have reported that peliosis hepatis develops in association with chronic wasting disease or prolonged use of anabolic steroids or oral contraceptives. In this report we describe a case in which discontinuation of steroid therapy improved the condition of a patient with peliosis hepatis. Our patient was a 64-year-old woman with a history of long-term steroid treatment for idiopathic thrombocytopenic purpura . Her symptoms included abdominal pain and weight loss; the only finding of a physical examination was hepatomegaly. We performed computed tomography (CT) and magnetic resonance imaging (MRI) of the liver and a liver biopsy. Based on these findings plus clinical observations, she was diagnosed with peliosis hepatis and her steroid treatment was terminated. The patient recovered completely 3 months after steroid discontinuation, and remained stable over the following 6 months.

  12. [Hereditary fructose intolerance (HFI) as cause of isolated gamma GT rise in a 5-year old boy with hepatomegaly].

    PubMed

    Wössmann, W; Wiemann, J; Körber, F; Gortner, L

    2000-01-01

    The diagnosis of HFI is easily missed during childhood. It should be suspected in children presenting with hepatomegaly and an isolated increase in GGT. A carefully taken nutritional history forms the basis of the diagnosis of HFI which can be confirmed by molecular analysis with a sensitivity of > 95%. I.v. fructose tolerance tests and liver biopsies often can be omitted.

  13. The Use of Beta-Adrenergic Blockade in Preventing Trauma-Induced Hepatomegaly

    PubMed Central

    Barrow, Robert E.; Wolfe, Robert R.; Dasu, Mohan R.; Barrow, Laura N.; Herndon, David N.

    2006-01-01

    Objective: The objective of this study was to test the hypothesis that hepatomegaly in burned children can be attenuated or reversed by blocking lipolysis and reducing free fatty acids delivered to the liver. Summary Background Data: Accelerated lipolysis in severely burned children has been shown to play an important role in the accumulation of hepatic TGs. Severely burned children who survive 10 days or more after injury commonly have enlarged livers often twice or more normal size for their sex, age, and weight. Methods: Ninety-eight children, 2 to 18 years of age, with burns covering more than 40% of their body surface and who received either propranolol (β-adrenergic blockade) or placebo were studied. Liver weights were measured by ultrasonic scanning. Body composition changes were identified by dual-image x-ray absorptiometry and validated by whole-body potassium-40 scintillation counting. Discarded abdominal cutaneous adipose tissue was collected before and after propranolol or placebo for microarray analysis. Results: In 80% of severely burned children studied not receiving propranolol, liver sizes increased by 100% or more while 86% of burned children receiving propranolol showed a decrease or no change in liver size over the same period of time after injury. Gene expression patterns of adipose tissue after propranolol treatment showed that all of the identified genes related to lipid metabolism were down-regulated. Conclusions: Data reported here support the hypothesis that β-adrenergic blockade can reduce delivery of fatty acids to the liver and hepatic congestion commonly found in severely burned children by inhibiting lipolysis and reducing hepatic blood flow. PMID:16371745

  14. Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene.

    PubMed

    Vals, Mari-Anne; Õiglane-Shlik, Eve; Nõukas, Margit; Shor, Riina; Peet, Aleksandr; Kals, Mart; Kivistik, Paula Ann; Metspalu, Andres; Õunap, Katrin

    2014-11-01

    Coffin-Siris Syndrome (CSS, MIM 135900) is a rare genetic disorder, and mutations in ARID1B were recently shown to cause CSS. In this study, we report a novel ARID1B mutation identified by whole-exome sequencing in a patient with clinical features of CSS. We identified a novel heterozygous frameshift mutation c.1584delG in exon 2 of ARID1B (NM_020732.3) predicting a premature stop codon p.(Leu528Phefs*65). Sanger sequencing confirmed the c.1584delG mutation as a de novo in the proband and that it was not present either in her parents, half-sister or half-brother. Clinically, the patient presented with extreme obesity, macrocephaly, hepatomegaly, hyperinsulinism and polycystic ovarian syndrome (PCOS), which have previously not been described in CSS patients. We suggest that obesity, macrocephaly, hepatomegaly and/or PCOS may be added to the list of clinical features of ARID1B mutations, but further clinical reports are required to make a definite conclusion.

  15. Development of an updated PBPK model for trichloroethylene and metabolites in mice, and its application to discern the role of oxidative metabolism in TCE-induced hepatomegaly

    SciTech Connect

    Evans, M.V. Chiu, W.A.; Okino, M.S.; Caldwell, J.C.

    2009-05-01

    Trichloroethylene (TCE) is a lipophilic solvent rapidly absorbed and metabolized via oxidation and conjugation to a variety of metabolites that cause toxicity to several internal targets. Increases in liver weight (hepatomegaly) have been reported to occur quickly in rodents after TCE exposure, with liver tumor induction reported in mice after long-term exposure. An integrated dataset for gavage and inhalation TCE exposure and oral data for exposure to two of its oxidative metabolites (TCA and DCA) was used, in combination with an updated and more accurate physiologically-based pharmacokinetic (PBPK) model, to examine the question as to whether the presence of TCA in the liver is responsible for TCE-induced hepatomegaly in mice. The updated PBPK model was used to help discern the quantitative contribution of metabolites to this effect. The update of the model was based on a detailed evaluation of predictions from previously published models and additional preliminary analyses based on gas uptake inhalation data in mice. The parameters of the updated model were calibrated using Bayesian methods with an expanded pharmacokinetic database consisting of oral, inhalation, and iv studies of TCE administration as well as studies of TCE metabolites in mice. The dose-response relationships for hepatomegaly derived from the multi-study database showed that the proportionality of dose to response for TCE- and DCA-induced hepatomegaly is not observed for administered doses of TCA in the studied range. The updated PBPK model was used to make a quantitative comparison of internal dose of metabolized and administered TCA. While the internal dose of TCA predicted by modeling of TCE exposure (i.e., mg TCA/kg-d) showed a linear relationship with hepatomegaly, the slope of the relationship was much greater than that for directly administered TCA. Thus, the degree of hepatomegaly induced per unit of TCA produced through TCE oxidation is greater than that expected per unit of TCA

  16. Biochemical mechanism underlying hypertriglyceridemia and hepatic steatosis/hepatomegaly induced by acute schisandrin B treatment in mice.

    PubMed

    Zhang, Yi; Zhao, Jing; Zhou, Shu-Feng; Yu, Zhi-Ling; Wang, Xiao-Yan; Zhu, Pei-Li; Chu, Zhu-Sheng; Pan, Si-Yuan; Xie, Ming; Ko, Kam-Ming

    2017-01-13

    It has been demonstrated that acute oral administration of schisandrin B (Sch B), an active dibenzocyclooctadiene isolated from Schisandrae Fructus (a commonly used traditional Chinese herb), increased serum and hepatic triglyceride (TG) levels and hepatic mass in mice. The present study aimed to investigate the biochemical mechanism underlying the Sch B-induced hypertriglyceridemia, hepatic steatosis and hepatomegaly. Male ICR mice were given a single oral dose of Sch B (0.25-2 g/kg). Sch B-induced changes in serum levels of biomarkers, such as TG, total cholesterol (TC), apolipoprotein B48 (ApoB 48), very-low-density lipoprotein (VLDL), non-esterified fatty acid (NEFA) and hepatic growth factor (HGF), as well as hepatic lipids and mass, epididymal adipose tissue (EAT) and adipocyte size, and histological changes of the liver and EAT were examined over a period of 12-120 h after Sch B treatment. Serum and hepatic TG levels were increased by 1.0-4.3 fold and 40-158% at 12-72 h and 12-96 h, respectively, after Sch B administration. Sch B treatment elevated serum ApoB 48 level (up to 12%), a marker of exogenous TG, but not VLDL, as compared with the vehicle treatment. Treatment with Sch B caused a time-/dose-dependent reduction in EAT index (up to 39%) and adipocyte size (up to 67%) and elevation in serum NEFA level (up to 55%). Sch B treatment induced hepatic steatosis in a time-/dose-dependent manner, as indicated by increases in total vacuole area (up to 3.2 fold vs. the vehicle control) and lipid positive staining area (up to 17.5 × 10(3) μm(2)) in liver tissue. Hepatic index and serum HGF levels were increased by 18-60% and 42-71% at 12-120 h and 24-72 h post-Sch B dosing, respectively. In addition, ultrastructural changes, such as increase in size and disruption of cristae, in hepatic mitochondria were observed in Sch B-treated mice. Our findings suggest that exogenous sources of TG and the breakdown of fat storage in the body contribute to Sch B

  17. Four cases of type 1 diabetes mellitus showing sharp serum transaminase increases and hepatomegaly due to glycogenic hepatopathy.

    PubMed

    Ikarashi, Yuichi; Kogiso, Tomomi; Hashimoto, Etsuko; Yamamoto, Kuniko; Kodama, Kazuhisa; Taniai, Makiko; Torii, Nobuyuki; Takaike, Hiroko; Uchigata, Yasuko; Tokushige, Katsutoshi

    2017-03-01

    Poorly controlled diabetes mellitus (DM) patients sometimes show serum transaminase elevations due to steatohepatitis. However, we experienced four cases with type 1 DM with sharp elevations in serum transaminases that could not be explained by steatohepatitis alone and showed bright liver. They were diagnosed with glycogenic hepatopathy (GH) clinicopathologically. The four patients had a median age of 22.5 years (range, 19-29 years) and 12.5 (4-15)-year histories of type 1 DM and showed marked increases in serum transaminases (aspartate aminotransferase, 698 U/L [469-2763 U/L]; alanine transaminase, 255 U/L [216-956 U/L]). Diabetes mellitus control was poor and hemoglobin A1c was 12.7% (11-16.5%). Three cases had a past history of diabetic ketoacidosis. Hepatomegaly and hyperdense liver were seen on computed tomography scans. Magnetic resonance imaging showed low intensity in T2-weighted images. The pathological findings revealed pale and swollen hepatocytes and glycogenated nuclei. The architecture of the liver was preserved, and steatosis and fibrosis were mild. The cytoplasm of hepatocytes stained densely positive with periodic acid-Schiff, and the positive staining disappeared after diastase digestion, suggesting glycogen deposition. No other cause of hepatitis was evident, and the diagnosis was GH. Elevated transaminases improved within 1 month with good glycemic control. Transaminase elevations were observed several times in three cases with poor glycemic control. Glycogenic hepatopathy is rare, but extremely high serum elevations of transaminases are important to identify clinically. Despite showing a good clinical course in general, GH sometimes recurs and requires strict glycemic control. Clinicians should be aware of and recognize GH when dealing with uncontrolled DM patients.

  18. Repeated inhalation exposure to octamethylcyclotetrasiloxane produces hepatomegaly, transient hepatic hyperplasia, and sustained hypertrophy in female Fischer 344 rats in a manner similar to phenobarbital.

    PubMed

    McKim, J M; Kolesar, G B; Jean, P A; Meeker, L S; Wilga, P C; Schoonhoven, R; Swenberg, J A; Goodman, J I; Gallavan, R H; Meeks, R G

    2001-04-15

    Octamethylcyclotetrasiloxane (D4) has been described as a phenobarbital-like inducer of hepatic enzymes. Phenobarbital (PB) and phenobarbital-like chemicals induce transient hepatic and thyroid hyperplasia and sustained hypertrophy in rats and mice. The extent to which these processes are involved with D4-induced hepatomegaly is not known. The present study has evaluated the effects of repeated inhalation exposure to D4 vapors on hepatic and thyroid cell proliferation and hypertrophy with respect to time and exposure concentration. Female Fischer 344 rats were exposed via whole body inhalation to 0 ppm D4, 700 ppm D4 vapors (6 h/day; 5 days/week), or 0.05% PB in drinking water over a 4-week period. Incorporation of 5'-bromo-2-deoxyuridine (BrdU) and the abundance of proliferating cell nuclear antigen were used as indicators of cell proliferation. Designated animals from each treatment group were euthanized on study days 6, 13, and 27. The effect of D4 exposure concentration on hepatic cell proliferation was evaluated at 0, 7, 30, 70, 150, 300, or 700 ppm. Liver-to-body weight ratios in animals exposed to 700 ppm D4 were increased 18, 20, and 22% over controls while PB-treated animals showed increases of 33, 27, and 27% over controls on days 6, 13, and 27 respectively. Hepatic incorporation of BrdU following exposure to D4 was highest on day 6 (labeling index = 15-22%) and was at or below control values by day 27. This pattern of transient hyperplasia was observed in all hepatic lobes examined and was similar to the pattern observed following treatment with PB.

  19. Over-dose insulin and stable gastric pentadecapeptide BPC 157. Attenuated gastric ulcers, seizures, brain lesions, hepatomegaly, fatty liver, breakdown of liver glycogen, profound hypoglycemia and calcification in rats.

    PubMed

    Ilic, S; Brcic, I; Mester, M; Filipovic, M; Sever, M; Klicek, R; Barisic, I; Radic, B; Zoricic, Z; Bilic, V; Berkopic, L; Brcic, L; Kolenc, D; Romic, Z; Pazanin, L; Seiwerth, S; Sikiric, P

    2009-12-01

    We focused on over-dose insulin (250 IU/kg i.p.) induced gastric ulcers and then on other disturbances that were concomitantly induced in rats, seizures (eventually fatal), severely damaged neurons in cerebral cortex and hippocampus, hepatomegaly, fatty liver, increased AST, ALT and amylase serum values, breakdown of liver glycogen with profound hypoglycemia and calcification development. Calcium deposits were present in the blood vessel walls, hepatocytes surrounding blood vessels and sometimes even in parenchyma of the liver mainly as linear and only occasionally as granular accumulation. As an antidote after insulin, we applied the stable gastric pentadecapeptide BPC 157 (10 microg/kg) given (i) intraperitoneally or (ii) intragastrically immediately after insulin. Controls received simultaneously an equivolume of saline (5 ml/kg). Those rats that survived till the 180 minutes after over-dose application were further assessed. Interestingly, pentadecapeptide BPC 157, as an antiulcer peptide, may besides stomach ulcer consistently counteract all insulin disturbances and fatal outcome. BPC 157 rats showed no fatal outcome, they were mostly without hypoglycemic seizures with apparently higher blood glucose levels (glycogen was still present in hepatocytes), less liver pathology (i.e., normal liver weight, less fatty liver), decreased ALT, AST and amylase serum values, markedly less damaged neurons in brain and they only occasionally had small gastric lesions. BPC 157 rats exhibited mostly only dot-like calcium presentation. In conclusion, the success of BPC 157 therapy may indicate a likely role of BPC 157 in insulin controlling and BPC 157 may influence one or more causative process(es) after excessive insulin application.

  20. Management of Duodenal Atresia in the setting of Congenital Leukemia with Massive Hepatomegaly

    PubMed Central

    2013-01-01

    Down's syndrome (DS) is associated with duodenal atresia (DA) in about 8-10% of cases. Transient Myeloproliferative Disorder (TMD)/Acute Myeloid Leukemia (AML) is also associated with the trisomy 21 mutation. The occurrence of the two conditions together complicates the diagnosis and surgical management of the DA. We discuss the technical aspects of management of the DA in this clinical setting. PMID:26023452

  1. Two-dimensional electrophoresis of liver proteins: characterization of a drug-induced hepatomegaly in rats.

    PubMed

    Newsholme, S J; Maleeff, B F; Steiner, S; Anderson, N L; Schwartz, L W

    2000-06-01

    Two-dimensional electrophoresis (2-DE) of liver proteins was applied to further characterize an unusual drug-induced increase in hepatocellular rough endoplasmic reticulum (RER) in Sprague-Dawley rats given a substituted pyrimidine derivative. Absolute liver weights of drug-treated rats (9.9 +/- 0.4 g) increased above vehicle-treated controls (7.2 +/- 0.2 g) by 37%. Light microscopy revealed diffuse granular basophilia of the hepatocellular cytoplasm, uncharacteristic of hepatocytes and suggested cells rich in ribosomes, which was confirmed by electron microscopy. Immunostaining for cell proliferation, viz., 5-bromo-2'-deoxyuridine (BrdU) and proliferating cell nuclear antigen (PCNA), indicated marked hepatocellular proliferative activity. 2-DE of solubilized liver using an ISO-DALT gel system indicated significant (p<0.001) quantitative changes in at least 17 liver proteins (12 increased, 5 decreased) compared to controls. The protein with the largest increase was homologous to acute-phase reactant, contrapsin-like protein inhibitor-6. Other markedly upregulated proteins were methionine adenosyltransferase, a catalyst in methionine/ATP metabolism and mitochondrial HMG-CoA synthase, involved in cholesterol synthesis. The complementary strategies of 2-DE coupled either with database spot mapping or protein isolation and amino acid sequencing successfully identified a subset of proteins from xenobiotic-damaged rodent livers, the expression of which differed from controls. However, the current bioinformatics platform for rodent hepatic proteins and limited knowledge of specific protein functionality restricted application of this proteomics profile to further define a mechanistic basis for this unusual hepatotoxicity.

  2. Hypophosphatemic Rickets: Presenting Features of Fanconi—Bickel Syndrome

    PubMed Central

    Roy, Mahua; Bose, K.; Paul, D. K.; Anand, Puja

    2011-01-01

    Fanconi-Bickel Syndrome (FBS) is a rare variety of glycogen storage disease (GSD). Characterized by massive hepatomegaly due to glycogen accumulation, severe hypophosphatemic rickets, and marked growth retardation due to proximal renal tubular dysfunction. We report a young boy presented as hypophosphatemic rickets with hepatomegaly and subsequently diagnosed as FBS. PMID:22937383

  3. COMPARISON OF BIOMARKERS IN WORKERS EXPOSED TO 2,4,6-TRINITROTOLUENE

    EPA Science Inventory

    2,4,6-Trinitrotoluene (TNT) is an important occupational and environmental pollutant. In TNT-exposed humans, the notable toxic manifestations have included aplastic anemia, toxic hepatitis, cataracts, hepatomegaly, and liver cancer. Therefore, we developed methods to biomonitor w...

  4. COMPARISON OF BIOMARKERS IN WORKERS EXPOSED TO 2,4,6-TRINITROTOLUENE

    EPA Science Inventory

    2,4,6-Trinitrotoluene (TNT) is an important occupational and environmental pollutant. In TNT-exposed humans, the notable toxic manifestations have included aplastic anemia, toxic hepatitis, cataracts, hepatomegaly, and liver cancer. Therefore, we developed methods to biomonitor w...

  5. Wilson disease

    MedlinePlus

    ... Abnormal posture of arms and legs Confusion or delirium Dementia Difficulty moving arms and legs, stiffness Difficulty ... thinking and IQ, loss of memory, and confusion (delirium or dementia) Liver or spleen disorders (including hepatomegaly ...

  6. 20 CFR Appendix to Subpart D of... - Unknown Title

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... right-sided congestive failure as evidenced by peripheral edema and liver enlargement, with: (A) Right... hepatomegaly or peripheral or pulmonary edema, with: (A) Cardio-thoracic ratio of 55 percent or greater,...

  7. Genetics Home Reference: D-bifunctional protein deficiency

    MedlinePlus

    ... unusually large space between the bones of the skull (fontanel). An enlarged liver (hepatomegaly) occurs in about ... Accessibility FOIA Viewers & Players U.S. Department of Health & Human Services National Institutes of Health National Library of ...

  8. Genetics Home Reference: glycogen storage disease type III

    MedlinePlus

    ... people with GSDIIIa have a weakened heart muscle (cardiomyopathy), but affected individuals usually do not experience heart ... Hepatomegaly Health Topic: Carbohydrate Metabolism Disorders Health Topic: Cardiomyopathy Health Topic: Cirrhosis Health Topic: Liver Diseases Health ...

  9. Prolonged hepatitis and jaundice: a rare complication of paediatric Epstein-Barr virus infection.

    PubMed

    Tan, Zhen Han; Phua, Kong Boo; Ong, Christina; Kader, Ajmal

    2015-07-01

    We herein report the case of a 14-year-old girl with Epstein-Barr virus (EBV) infectious mononucleosis who developed prolonged hepatitis and jaundice. At presentation, she had tender hepatomegaly with a markedly deranged liver function test. Abdominal ultrasonography showed hepatomegaly and a thickened gallbladder wall. During the subsequent 11 weeks, her transaminases showed two further peaks, which corresponded with clinical deterioration. Her highest alanine transaminase level was 1,795 µ/L and total bilirubin level was 154 µmol/L. She recovered fully with conservative management. EBV-related liver involvement is typically mild and self-limiting. We believe that tender hepatomegaly and gallbladder thickening may be important predictors of significant liver involvement. Although multiple transaminase peaks may occur, we do not consider this an indication for antiviral or immunosuppressive therapy. In the absence of strong evidence supporting the use of any specific therapy, we recommend a conservative approach for an immunocompetent patient.

  10. Primary Liver Sinusoidal Non-Hodgkin's Lymphoma Presenting as Acute Liver Failure

    PubMed Central

    Nagral, Aabha; Jhaveri, Ajay; Kalthoonical, Vilesh; Bhat, Ganapathi; Mahajan, Pravin; Borges, Anita

    2015-01-01

    We describe a case of a middle-aged woman, who presented to us with fever, anorexia, abdominal distension from a massive hepatomegaly, low hemoglobin, and acute liver failure. A liver biopsy revealed B cell non-Hodgkin's lymphoma predominantly in the sinusoids with CD10, CD20, and Bcl-2 positive on immunohistochemistry. She initially responded well to chemotherapy but succumbed 6 months later to the recurrence of disease. Sinusoidal non-Hodgkin's lymphoma of the liver should be considered in the differential diagnosis of a patient with large hepatomegaly presenting with acute liver failure. PMID:26900276

  11. Glycogenic hepatopathy, an underdiagnosed cause of relapsing hepatitis in uncontrolled type 1 diabetes mellitus

    PubMed Central

    Sarkhy, Ahmed A. Al; Zaidi, Zafar A.; Babiker, Amir M.

    2017-01-01

    Glycogenic hepatopathy is a rare condition that causes significant hepatomegaly and elevated liver enzyme levels in uncontrolled type 1 diabetic patients. It develops due to excessive accumulation of glycogen in the hepatocytes. It is typically reversible with good glycemic control and rarely progresses to mild fibrosis, but not cirrhosis. PMID:28042636

  12. Feline porphyria associated with anemia, severe hepatic disease, and renal calculi.

    PubMed

    Schnier, Jonathan J; Hanna, Paul

    2010-10-01

    A 13-year-old, neutered male domestic cat presented with signs of weight loss, anemia, and hepatomegaly. Pathognomonic signs of porphyria were identified. Charcoal-like renal calculi and severe liver changes were observed, neither of which has been previously reported in association with feline porphyria.

  13. Unusual presentation of tuberculosis in an elderly male: a case report

    PubMed Central

    Kandel, Ramesh; Bhattarai, Bhawana; Maharjan, Santosh

    2015-01-01

    Key Clinical Message Tuberculous liver abscess is an extremely rare condition, even in tuberculosis endemic countries. A 68-year-old male presented with 2 months of fever, significant weight loss, and hepatomegaly. Ultrasonography revealed a right hepatic lobe abscess. Guided aspiration of the fluid showed tubercular bacilli. He had no evidence of active Tuberculosis elsewhere. PMID:25678973

  14. CYP1A2 IS NOT REQUIRED FOR 2, 3, 7, 8-TETRACHLORODIBENZO-P-DIOXIN-INDUCED IMMUNOSUPPRESSION

    EPA Science Inventory

    ABSTRACT
    One of the most sensitive and reproducible immunotoxic endpoints of 2,3,7,8-tetrachloro-dibenzo-p-dioxin (TCDD) exposure is suppression of the antibody response to sheep red blood cells (SRBCs) in mice. Immunosuppression occurs in concert with hepatomegaly and associ...

  15. A rare cause of right upper quadrant pain in a 17-year-old female.

    PubMed

    Nwankwo, Nwabundo; Barbaryan, Aram; Ali, Alaa M; Mirrakhimov, Aibek E

    2013-01-01

    A 17-year-old Hispanic female presented to our hospital with complaints of right upper quadrant abdominal pain, vomiting, and fever. Physical exam was positive for hepatomegaly. Abdominal computed tomography showed multiple hypoechoic liver masses. Liver biopsy was done, which was diagnostic for hepatic epithelioid hemangioendothelioma.

  16. Solitary liver abscess in a healthy child presenting with fever of unknown origin.

    PubMed

    Sakran, W; Kawar, B; Chervinsky, L; Siplovich, L

    2005-06-01

    Pyogenic liver abscess is rarely encountered in normal children. We report a case of solitary pyogenic liver abscess in a healthy child aged 8 months. He presented with fever of unknown origin and mild hepatomegaly. Full recovery was achieved by surgical intervention and prolonged antibiotic treatment. Management and recommended treatment in children with liver abscess are presented.

  17. Genetics Home Reference: Pompe disease

    MedlinePlus

    ... muscle tone (hypotonia), an enlarged liver (hepatomegaly), and heart defects. Affected infants may also fail to gain weight and grow at the expected rate (failure to thrive) and have breathing problems. If untreated, this form ... leads to death from heart failure in the first year of life. The ...

  18. CYP1A2 IS NOT REQUIRED FOR 2, 3, 7, 8-TETRACHLORODIBENZO-P-DIOXIN-INDUCED IMMUNOSUPPRESSION

    EPA Science Inventory

    ABSTRACT
    One of the most sensitive and reproducible immunotoxic endpoints of 2,3,7,8-tetrachloro-dibenzo-p-dioxin (TCDD) exposure is suppression of the antibody response to sheep red blood cells (SRBCs) in mice. Immunosuppression occurs in concert with hepatomegaly and associ...

  19. The Effects of Scavenging on Waste Methoxyflurane Concentrations in Veterinary Operating Room Air

    DTIC Science & Technology

    1981-01-01

    an increased percentage of fetal anomalies 1 have occurred following exposure of chick eggs to methoxyflurane (28). High subanesthetic concentrations...of methoxyflurane have also caused fetal growth retardation in rats (25). Hepatomegaly and histologic changes of the liver have been demonstrated in

  20. GADD45ß, an anti-tumor gene, inhibits avian leukosis virus subgroup J replication in chickens

    USDA-ARS?s Scientific Manuscript database

    Avian leukosis virus subgroup J (ALV-J) is a retrovirus that induces neoplasia, hepatomegaly, immunosuppression and poor performance in chickens. The tumorigenic and pathogenic mechanisms of ALV-J remain a hot topic. To explore anti-tumor genes that confer genetic resistance to ALV-J infection in ch...

  1. Stent Angioplasty of Closed Mesocaval Shunt in a Patient with Budd-Chiari Syndrome

    SciTech Connect

    Sancak, Tanzer; Karagulle, Ayse Tuba; Bilgic, Sadik; Sanlidilek, Umman; Yerdel, Mehmet Ali

    2002-08-15

    Budd-Chiari syndrome (BCS) is an uncommon disorder caused by hepatic venous outflow obstruction. It is characterized by ascites, hepatomegaly and abdominal pain. Percutaneous intervention shave recently been used for the treatment of BCS. We present a case of BCS with a closed mesocaval shunt which was reopened with a self-expandable metallic stent.

  2. Unusual presentation of tuberculosis in an elderly male: a case report.

    PubMed

    Kandel, Ramesh; Bhattarai, Bhawana; Maharjan, Santosh

    2015-01-01

    Tuberculous liver abscess is an extremely rare condition, even in tuberculosis endemic countries. A 68-year-old male presented with 2 months of fever, significant weight loss, and hepatomegaly. Ultrasonography revealed a right hepatic lobe abscess. Guided aspiration of the fluid showed tubercular bacilli. He had no evidence of active Tuberculosis elsewhere.

  3. Feline porphyria associated with anemia, severe hepatic disease, and renal calculi

    PubMed Central

    Schnier, Jonathan J.; Hanna, Paul

    2010-01-01

    A 13-year-old, neutered male domestic cat presented with signs of weight loss, anemia, and hepatomegaly. Pathognomonic signs of porphyria were identified. Charcoal-like renal calculi and severe liver changes were observed, neither of which has been previously reported in association with feline porphyria. PMID:21197209

  4. Fanconi-Bickel syndrome--two cases report.

    PubMed

    Sotelo, Norberto; García, Ramiro; Tostado, René; Dhanakotti, Nagasharmila

    2008-01-01

    A one year eight month old male child and his nine month old female sibling were presented with Growth retardation, abdominal distension, doll-like faces, hepatomegaly, phosphaturia, proximal renal tubular dysfunction. The elder sibling also presented with glucosuria, hyperglycemia, hypoinsulinemia. The younger one later presented with galactosemia. Biopsy of liver on these two patients revealed the accumulation of glycogen in hepatocytes.

  5. Technetium-99m-labeled red blood cells in the evaluation of hemangiomas of the liver in infants and children

    SciTech Connect

    Miller, J.H.

    1987-09-01

    The vascular origin lesions of the liver (capillary hemangioma/infantile hemangioendothelioma) that present in infancy or early childhood often have a typical clinical picture of hepatomegaly and congestive heart failure. These lesions rarely present as asymptomatic hepatomegaly, simulating a primary hepatic malignancy. These lesions may also simulate a primary or secondary hepatic malignancy on cross-sectional imaging or angiography. Scintigraphic evaluations with technetium-99m-labeled red blood cells offers an accurate method of identification of these lesions, and allows differentiation from other common primary or secondary hepatic masses in infancy or childhood. This scintigraphic method may also be used to follow these patients after medical, radiation, or embolization therapy. Experience with seven patients with these tumors is reported and compared with eight children with other primary or secondary liver tumors also evaluated by this method.

  6. Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An update.

    PubMed

    Bay, Luisa; Canero Velasco, Cristina; Ciocca, Mirta; Cotti, Andrea; Cuarterolo, Miriam; Fainboim, Alejandro; Fassio, Eduardo; Galoppo, Marcela; Pinero, Federico; Rozenfeld, Paula

    2017-06-01

    Lysosomal acid lipase deficiency (LAL-D) is still a little recognized genetic disease with significant morbidity and mortality in children and adults. This document provides guidance on when to suspect LAL-D and how to diagnose it. It is recommended to add lysosomal acid lipase deficiency to the List of differential diagnoses of sepsis, oncological diseases, storage diseases, persistent diarrhea, chronic malnutrition, and hemophagocytic lymphohistiocytosis. It should also be considered in young patients with dyslipidemia and atherosclerosis as well as diseases associated with fatty liver and/or hepatomegaly. LAL-D should be suspected in patients with hepatomegaly, hyperlipidemia and /or elevated transaminases found during routine checks or testing for other conditions, and in patients with cryptogenic cirrhosis. At present, there is the option of a specific enzyme replacement treatment. Sociedad Argentina de Pediatría.

  7. Aggressive therapy improves cirrhosis in glycogen storage disease type IX.

    PubMed

    Tsilianidis, Laurie A; Fiske, Laurie M; Siegel, Sara; Lumpkin, Chris; Hoyt, Kate; Wasserstein, Melissa; Weinstein, David A

    2013-06-01

    Glycogen storage disease type IX (GSD IX) is described as a benign condition that often does not require treatment. Most patients with the disease are thought to outgrow the childhood manifestations, which include hepatomegaly, poor growth, and ketosis with or without hypoglycemia. Long term complications including fibrosis and cirrhosis have seldom been reported in the most common subtype, GSD IXα. We present two cases of children with GSD IXα who had fibrosis at the time of diagnosis in addition to the commonly reported disease manifestations. Structured therapy with frequent doses of uncooked cornstarch and protein supplementation was initiated, and both children responded with improved growth velocity, increased energy, decreased hepatomegaly and improved well-being. Additionally, radiographic features of fibrosis improved. We propose that GSD IXα is not a benign condition. Even in patients with a less severe presentation, consideration of a structured treatment regimen to improve quality of life appears warranted.

  8. The use of infliximab in a patient with idiopathic granulomatous hepatitis

    PubMed Central

    Kapoor, Sabrina Reenu; Snowden, Neil

    2009-01-01

    We report a therapeutic response to infliximab in a patient with idiopathic granulomatous hepatitis resistant to treatment with methotrexate and corticosteroids. A 41-year-old woman presented with a 12-month history of fever, night sweat, gross hepatomegaly and 13 kg weight loss. Infection and malignancy were carefully excluded and a liver biopsy showed changes consistent with idiopathic granulomatous hepatitis. The patient was treated with high dose steroids and methotrexate, but her clinical symptoms and biochemical and radiological signs did not settle. Introduction of infliximab led to rapid and sustained resolution of symptoms, hepatomegaly and liver function tests (LFTs) after 1 year of follow-up. To our knowledge this is the first successful use of infliximab in idiopathic granulomatous hepatitis. PMID:21686858

  9. Liver transplantation with preservation of the inferior vena cava in case of symptomatic adult polycystic disease.

    PubMed

    Lerut, Jan; Ciccarelli, Olga; Rutgers, Matthieu; Orlando, Giuseppe; Mathijs, Jules; Danse, Etienne; Goffin, Eric; Gigot, Jean-François; Goffette, Pierre

    2005-05-01

    Adult polycystic liver disease (APLD) is a rare disorder of the liver parenchyma, the treatment of which is still controversial. Conservative surgery may have a significant morbidity and is often ineffective in the long run. Liver replacement may be indicated in case of incapacitating hepatomegaly. Patients (one male, five females) undergoing liver transplantation for symptomatic APLD is presented in this study. The particular nature of this series is the fact that successful transplantation was performed in all cases with preservation of the recipient's inferior vena cava and without use of veno-venous bypass despite massive hepatomegaly and previous extensive liver surgery (in three cases). There was minimal morbidity and no mortality. All patients have excellent quality of life with a median follow-up of 41 months (range: 12-58) as testified by a median Karnofsky score of 90% (range: 80-100%).

  10. Isolated fatty liver from prolonged propofol use in a pediatric patient with refractory status epilepticus.

    PubMed

    Rison, Richard A; Ko, David Y

    2009-07-01

    Propofol is a widely used rapidly acting sedating or hypnotic agent in the intensive care setting. It is generally considered safe in both pediatric and adult patients and has been used frequently in cases of refractory status epilepticus. The formulation of propofol is highly lipophilic to facilitate central nervous system penetration and has a high fat content, and prolonged infusions have been known to cause both extrahepatic complications and hepatomegaly secondary to fatty liver. Whereas extrahepatic manifestations of prolonged propofol infusions have been well reported in non-neurologic intensive care patients, cases of pathologically confirmed fatty liver in patients with status epilepticus are relatively few. Furthermore, these cases of hepatomegaly and fatty liver have been also in the context of concomitant extrahepatic side effects. We report on a pediatric patient with refractory status epilepticus treated with a prolonged propofol infusion who developed isolated pathologically confirmed fatty liver without the usually reported extrahepatic manifestations.

  11. Recurrent infantile hypoglycemia due to combined fructose-1,6-diphosphatase deficiency and growth hormone deficiency.

    PubMed

    Takagi, Dania; Ben-Ari, Josef; Nemet, Dan; Zeharia, Avraham; Eliakim, Alon

    2013-01-01

    A 14-month-old female infant presented with recurrent episodes of acute gastroenteritis accompanied by severe metabolic acidosis and hypoglycemia. Physical examination showed hepatomegaly. Laboratory evaluation revealed elevated hepatic enzymes, prolonged prothrombin time, hyperuricemia, and extremely elevated lactate and alanine levels. Glucagon injection during hypoglycemia resulted in a further decrease of blood glucose. She was treated with glucose-containing intravenous fluids, with rapid improvement and normalization of her blood pH and glucose levels. Hormonal assessment during two episodes of hypoglycemia indicated growth hormone (GH) deficiency. However, as isolated GH deficiency could not explain all other concomitant features, such as severe lactic acidosis, hepatomegaly, impaired liver function, and hyperuricemia, the possibility of a combined defect was suggested. Further lymphocytic enzymatic investigation revealed fructose-1,6-diphosphatase deficiency and molecular genetic analysis demonstrated frame shift mutation in the FBP1 gene. This enzyme deficiency causes a rare metabolic disorder not previously described in combination with GH deficiency.

  12. A case of leptospirosis simulating colon cancer with liver metastases

    PubMed Central

    Granito, Alessandro; Ballardini, Giorgio; Fusconi, Marco; Volta, Umberto; Muratori, Paolo; Sambri, Vittorio; Battista, Giuseppe; Bianchi, Francesco B.

    2004-01-01

    We report a case of a 61-year-old man who presented with fatigue, abdominal pain and hepatomegaly. Computed tomography (CT) of the abdomen showed hepatomegaly and multiple hepatic lesions highly suggestive of metastatic diseases. Due to the endoscopic finding of colon ulcer, colon cancer with liver metastases was suspected. Biochemically a slight increase of transaminases, alkaline phosphatase and gammaglutamyl transpeptidase were present; α - fetoprotein, carcinoembryogenic antigen and carbohydrate 19-9 antigen serum levels were normal. Laboratory and instrumental investigations, including colon and liver biopsies revealed no signs of malignancy. In the light of spontaneous improvement of symptoms and CT findings, his personal history was revaluated revealing direct contact with pigs and their tissues. Diagnosis of leptospirosis was considered and confirmed by detection of an elevated titer of antibodies to leptospira. After two mo, biochemical data, CT and colonoscopy were totally normal. PMID:15285043

  13. Acute disseminated toxoplasmosis in a juvenile cheetah (Acinonyx jubatus).

    PubMed

    Lloyd, Christopher; Stidworthy, Mark F

    2007-09-01

    A juvenile cheetah (Acinonyx jubatus) died with rapidly progressive pyrexia, tachypnea, abdominal effusion, and hepatomegaly. Postmortem examination revealed lesions consistent with acute disseminated infection with Toxoplasma gondii. The presence of this organism was confirmed in multiple organs by immunohistochemistry and polymerase chain reaction. To the best of our knowledge, we propose this to be the first reported case of primary acute disseminated toxoplasmosis in a cheetah.

  14. Keratosis follicularis spinulosa decalvans. An infant with failure to thrive, deafness, and recurrent infections.

    PubMed

    Britton, H; Lustig, J; Thompson, B J; Meyer, S; Esterly, N B

    1978-05-01

    A 10-month-old male infant had keratosis follicularis spinulosa decalvans, an X-linked dominant disorder. His cutaneous abnormalities consisted of generalized hyperkeratosis, spiny follicular papular lesions, universal alopecia, and hypoplastic nails. Ocular changes characteristic of the disease were also present. Unusual findings included deafness, failure to thrive, predisposition to bacterial infections without demonstrable immune defect, and transient hepatomegaly with abnormal liver function studies.

  15. Stage 4S Bilateral Adrenal Neuroblastoma in a Newborn

    PubMed Central

    Mala, Tariq Ahmed; Mathur, Praveen; Paul, Rozy; Mala, Shahid Amin

    2014-01-01

    Stage 4S bilateral adrenal neuroblastoma presenting in the neonatal period is extremely rare. A 1-day-old male with 4Sbilateral adrenal neuroblastoma complicated by marked hepatomegaly managed by chemotherapy is being reported. The provisional diagnosis of neuroblastoma was made in the fetal life during the last trimester of pregnancy. Cardiomyopathy due to doxorubicin cytotoxicity developed over ensuing years, which is being treated. PMID:24834390

  16. [POEMS syndrome: role and value of interleukin-6].

    PubMed

    Andrès, E; Courouau, F; Kaltenbach, G; Maloisel, F; Imler, M

    1996-01-01

    POEMS syndrome is a systemic disorder with peripheral neuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes. The association of POEMS syndrome with lympho-proliferative disorder is very commun. The pathogenesis remains poorly understood but implication of cytokines (interleukins 1 and 6) is suspected. We report a case of a classic POEMS syndrome (with polyneuropathy, hepatomegaly, diabetes melitus, hyperpigmentation, monoclonal IgG lambda, anasarca and solitary plasmocytoma), associated with high serum levels of interleukin 6.

  17. The left-sided pancreas

    SciTech Connect

    Dunn, G.D.; Gibson, R.N.

    1986-06-01

    Ultrasonography (US) performed in nine patients (two with pancreatic carcinoma, one with hepatomegaly), six with no relevant abdominal disease) showed the pancreas to lie wholly to the left of the aorta. This not uncommon location may give rise to difficulty in demonstrating the pancreas on real-time US scans. The superior mesenteric vessels and splenic vein remain useful land-marks for locating the head of the pancreas in this position.

  18. Effect of chronic intake of arsenic-contaminated water on liver

    SciTech Connect

    Guha Mazumder, D.N. . E-mail: dngm@apexmail.com

    2005-08-07

    The hepatotoxic effect of arsenic when used in therapeutic dose has long been recognized. We described the nature and degree of liver involvement and its pathogenesis due to prolonged drinking of arsenic-contaminated water in West Bengal, India. From hospital-based studies on 248 cases of arsenicosis, hepatomegaly was found in 190 patients (76.6%). Non cirrhotic portal fibrosis was the predominant lesions in 63 out of 69 cases who underwent liver biopsy. The portal fibrosis was characterized by expansion of portal zones with streaky fibrosis, a few of which contained leash of vessels. However, portal hypertension was found in smaller number of cases. A cross-sectional epidemiological study was carried out on 7683 people residing in arsenic-affected districts of West Bengal. Out of these, 3467 and 4216 people consumed water-containing arsenic below and above 0.05 mg/l, respectively. Prevalence of hepatomegaly was significantly higher in arsenic-exposed people (10.2%) compared to controls (2.99%, P < 0.001). The incidence of hepatomegaly was found to have a linear relationship proportionate to increasing exposure of arsenic in drinking water in both sexes (P < 0.001). In an experimental study, BALB/C mice were given water contaminated with arsenic (3.2 mg/l) ad libitum for 15 months, the animals being sacrificed at 3-month intervals. We observed progressive reduction of hepatic glutathione and enzymes of anti-oxidative defense system associated with lipid peroxidation. Liver histology showed fatty infiltration at 12 months and hepatic fibrosis at 15 months. Our studies show that prolong drinking of arsenic-contaminated water is associated with hepatomegaly. Predominant lesion of hepatic fibrosis appears to be caused by arsenic induced oxystress.

  19. Hepatobiliary Ultrasonographic Abnormalities in Adult Patients with Sickle Cell Anaemia in Steady State in Ile-Ife, Nigeria

    PubMed Central

    Oguntoye, Oluwatosin O.; Ndububa, Dennis A.; Yusuf, Musah; Bolarinwa, Rahman A.; Ayoola, Oluwagbemiga O.

    2017-01-01

    Summary Background Sickle cell anaemia (SCA) is associated with structural manifestations in the hepatobiliary axis. This study aimed to investigate the hepatobiliary ultrasonographic abnormalities in adult patients with sickle cell anaemia in steady state attending the Haematology clinic of a federal tertiary health institution in Ile-Ife, Nigeria. Material/Methods Basic demographic data as well as right upper abdominal quadrant ultrasonography of 50 consecutive sickle cell anaemia patients were compared with those of 50 age- and sex-matched subjects with HbAA as controls. Results Each of the study groups (patients and controls) comprised of 21 (42%) males and 29 (58%) females. The age range of the patients was 18–45 years with a mean (±SD) of 27.6±7.607 years, while that of the controls was 21–43 years with a mean (±SD) of 28.0±5.079 years (p=0.746). Amongst the patients, 32 (64%) had hepatomegaly, 15 (30%) cholelithiasis and 3 (6%) biliary sludge. Fourteen (28%) of the patients had normal hepatobiliary ultrasound findings. In the control group, one (2%) person had cholelithiasis, one (2%) biliary sludge, one (2%) fatty liver and none hepatomegaly. Forty-seven (94%) of the controls had normal hepatobiliary ultrasound findings. There was a statistically significant difference in the prevalence of hepatomegaly and cholelithiasis between the patients and controls (p value <0.001 for both comparisons). Conclusions In this study, hepatomegaly, cholelithiasis and biliary sludge were the most common hepatobiliary ultrasound findings in patients with sickle cell anaemia. Ultrasonography is a useful tool for assessing hepatobiliary abnormalities in patients with sickle cell anaemia. PMID:28105246

  20. IGF-II induced by hepatitis B virus X protein regulates EMT via SUMO mediated loss of E-cadherin in mice

    PubMed Central

    Ha, Hye-Lin; Kwon, Taeho; Bak, In Seon; Erikson, Raymond L.; Kim, Bo Yeon; Yu, Dae-Yeul

    2016-01-01

    Hepatocellular carcinoma (HCC) is one of the most common cancers and a leading cause of cancer mortality. Prognosis of this disease largely depends on its stage. An Enlarged liver, due to dysplasia, may be a critical point in the multi-step progression to HCC. The mechanism underlying hepatomegaly in human and mouse models are poorly understood. We previously reported we observed enlarged liver in hepatitis B virus X protein (HBx) expressing mice (HBx mice). Here we identify the critical role of HBx induced IGF-II in hepatomegaly in mice and abnormal cell growth in human hepatoma cells. We found that HBx induced IGF-II is essential to induce epithelial-mesenchymal transition (EMT) through loss of E-cadherin. In mouse liver, loss of E-cadherin was mediated by post-translational regulation, at least in part, by protease and SUMOylation not by transcriptional regulation. In contrast, in hepatoma cell line (HepG2 cells) Akt signal pathway controls the mRNA expression level of EMT-related transcription factors, especially Twist, in addition to post- translational modification through SUMOylation. Thus, IGF-II-mediated loss of E-cadherin is central in developing hepatomegaly in mice and abnormal cell growth in the hepatoma cell line. HBx induced IGF-II represents a potential biomarker, which is also a therapeutic target in HCC. PMID:27486970

  1. GLYCOGENIC HEPATOPATHY: A COMPLICATION OF UNCONTROLLED DIABETES

    PubMed Central

    Satyarengga, Medha; Zubatov, Yelena; Frances, Sylvaine; Narayanswami, Gopal; Galindo, Rodolfo J.

    2017-01-01

    Objective To describe a case of hepatomegaly and elevated transaminases in a patient with glycogenic hepatopathy (GH) as a complication of uncontrolled diabetes. Methods Clinical, laboratory, and pathological information are described. Results An 18-year-old male with uncontrolled type 1 diabetes and recurrent diabetic ketoacidosis (DKA) presented with abdominal distention and severe hyperglycemia. Physical examination revealed massive hepatomegaly. Laboratory evaluation showed anion-gap metabolic acidosis, ketonuria, and markedly elevated aspartate and alanine amino transaminases (AST = 1,162 IU/L and ALT = 598 IU/L, respectively). Despite resolution of DKA with insulin infusion, transaminases continued to increase (peak AST = 3,725 U/L, ALT = 1,049 U/L) with no signs of liver failure (normal coagulation profile and albumin level). Abdominal ultrasonography revealed an enlarged liver with moderate echogenicity, consistent with steatosis. Extensive evaluation for causes of hepatitis including toxic, autoimmune, genetic, and infectious diseases was unrevealing. Liver biopsy showed no signs of nonalcoholic fatty liver disease (NAFLD), such as fibrosis, steatosis, or portal inflammation. However, swollen hepatocytes with glycogen accumulation consistent with GH were seen. Conclusion GH can present as hepatomegaly and elevated liver transaminases in patients with uncontrolled diabetes. Clinicians should consider GH in patients with uncontrolled diabetes after ruling out other common causes. Liver ultrasound cannot differentiate this condition from the more commonly seen NAFLD. Although liver biopsy remains a gold standard, evaluation with magnetic resonance imaging may be considered as a less invasive alternative in the appropriate clinical setting. PMID:28868358

  2. GLYCOGENIC HEPATOPATHY: A COMPLICATION OF UNCONTROLLED DIABETES.

    PubMed

    Satyarengga, Medha; Zubatov, Yelena; Frances, Sylvaine; Narayanswami, Gopal; Galindo, Rodolfo J

    2017-01-01

    To describe a case of hepatomegaly and elevated transaminases in a patient with glycogenic hepatopathy (GH) as a complication of uncontrolled diabetes. Clinical, laboratory, and pathological information are described. An 18-year-old male with uncontrolled type 1 diabetes and recurrent diabetic ketoacidosis (DKA) presented with abdominal distention and severe hyperglycemia. Physical examination revealed massive hepatomegaly. Laboratory evaluation showed anion-gap metabolic acidosis, ketonuria, and markedly elevated aspartate and alanine amino transaminases (AST = 1,162 IU/L and ALT = 598 IU/L, respectively). Despite resolution of DKA with insulin infusion, transaminases continued to increase (peak AST = 3,725 U/L, ALT = 1,049 U/L) with no signs of liver failure (normal coagulation profile and albumin level). Abdominal ultrasonography revealed an enlarged liver with moderate echogenicity, consistent with steatosis. Extensive evaluation for causes of hepatitis including toxic, autoimmune, genetic, and infectious diseases was unrevealing. Liver biopsy showed no signs of nonalcoholic fatty liver disease (NAFLD), such as fibrosis, steatosis, or portal inflammation. However, swollen hepatocytes with glycogen accumulation consistent with GH were seen. GH can present as hepatomegaly and elevated liver transaminases in patients with uncontrolled diabetes. Clinicians should consider GH in patients with uncontrolled diabetes after ruling out other common causes. Liver ultrasound cannot differentiate this condition from the more commonly seen NAFLD. Although liver biopsy remains a gold standard, evaluation with magnetic resonance imaging may be considered as a less invasive alternative in the appropriate clinical setting.

  3. Comparison of the efficacy of cardamom (Elettaria cardamomum) with pioglitazone on dexamethasone-induced hepatic steatosis, dyslipidemia, and hyperglycemia in albino rats

    PubMed Central

    Nitasha Bhat, G. M.; Nayak, Nagendra; Vinodraj, K.; Chandralekha, N.; Mathai, Paul; Cherian, J.

    2015-01-01

    To evaluate the efficacy of cardamom with pioglitazone on dexamethasone-induced hepatic steatosis, dyslipidemia, and hyperglycemia in albino rats. There were four groups of 6 rats each. First group received dexamethasone alone in a dose of 8 mg/kg intraperitoneally for 6 days to induce metabolic changes and considered as dexamethasone control. Second group received cardamom suspension 1 g/kg/10 mL of 2% gum acacia orally 6 days before dexamethasone and 6 days during dexamethasone administration. Third group received pioglitazone 45 mg/kg orally 6 days before dexamethasone and 6 days during dexamethasone administration. Fourth group did not receive any medication and was considered as normal control. Fasting blood sugar, lipid profile, blood sugar 2 h after glucose load, liver weight, liver volume were recorded, and histopathological analysis was done. The effects of cardamom were compared with that of pioglitazone. Dexamethasone caused hepatomegaly, dyslipidemia and hyperglycemia. Both pioglitazone and cardamom significantly reduced hepatomegaly, dyslipidemia, and hyperglycemia (P < 0.01). Reduction of blood sugar levels after glucose load was significant with pioglitazone in comparison to cardamom (P < 0.01). Cardamom has comparable efficacy to pioglitazone in preventing dexamethasone-induced hepatomegaly, dyslipidemia, and fasting hyperglycemia. PMID:26317079

  4. Comparison of the efficacy of cardamom (Elettaria cardamomum) with pioglitazone on dexamethasone-induced hepatic steatosis, dyslipidemia, and hyperglycemia in albino rats.

    PubMed

    Nitasha Bhat, G M; Nayak, Nagendra; Vinodraj, K; Chandralekha, N; Mathai, Paul; Cherian, J

    2015-01-01

    To evaluate the efficacy of cardamom with pioglitazone on dexamethasone-induced hepatic steatosis, dyslipidemia, and hyperglycemia in albino rats. There were four groups of 6 rats each. First group received dexamethasone alone in a dose of 8 mg/kg intraperitoneally for 6 days to induce metabolic changes and considered as dexamethasone control. Second group received cardamom suspension 1 g/kg/10 mL of 2% gum acacia orally 6 days before dexamethasone and 6 days during dexamethasone administration. Third group received pioglitazone 45 mg/kg orally 6 days before dexamethasone and 6 days during dexamethasone administration. Fourth group did not receive any medication and was considered as normal control. Fasting blood sugar, lipid profile, blood sugar 2 h after glucose load, liver weight, liver volume were recorded, and histopathological analysis was done. The effects of cardamom were compared with that of pioglitazone. Dexamethasone caused hepatomegaly, dyslipidemia and hyperglycemia. Both pioglitazone and cardamom significantly reduced hepatomegaly, dyslipidemia, and hyperglycemia (P < 0.01). Reduction of blood sugar levels after glucose load was significant with pioglitazone in comparison to cardamom (P < 0.01). Cardamom has comparable efficacy to pioglitazone in preventing dexamethasone-induced hepatomegaly, dyslipidemia, and fasting hyperglycemia.

  5. A genetic screen in zebrafish identifies the mutants vps18, nf2 and foie gras as models of liver disease.

    PubMed

    Sadler, Kirsten C; Amsterdam, Adam; Soroka, Carol; Boyer, James; Hopkins, Nancy

    2005-08-01

    Hepatomegaly is a sign of many liver disorders. To identify zebrafish mutants to serve as models for hepatic pathologies, we screened for hepatomegaly at day 5 of embryogenesis in 297 zebrafish lines bearing mutations in genes that are essential for embryonic development. Seven mutants were identified, and three have phenotypes resembling different liver diseases. Mutation of the class C vacuolar protein sorting gene vps18 results in hepatomegaly associated with large, vesicle-filled hepatocytes, which we attribute to the failure of endosomal-lysosomal trafficking. Additionally, these mutants develop defects in the bile canaliculi and have marked biliary paucity, suggesting that vps18 also functions to traffic vesicles to the hepatocyte apical membrane and may play a role in the development of the intrahepatic biliary tree. Similar findings have been reported for individuals with arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome, which is due to mutation of another class C vps gene. A second mutant, resulting from disruption of the tumor suppressor gene nf2, develops extrahepatic choledochal cysts in the common bile duct, suggesting that this gene regulates division of biliary cells during development and that nf2 may play a role in the hyperplastic tendencies observed in biliary cells in individuals with choledochal cysts. The third mutant is in the novel gene foie gras, which develops large, lipid-filled hepatocytes, resembling those in individuals with fatty liver disease. These mutants illustrate the utility of zebrafish as a model for studying liver development and disease, and provide valuable tools for investigating the molecular pathogenesis of congenital biliary disorders and fatty liver disease.

  6. Hypertransaminasemia and fatal lung disease: a case report

    PubMed Central

    2013-01-01

    Glycogenosis type II (Pompe disease) is a rare autosomal recessive genetic disorder caused by mutations in the gene encoding the lysosomal enzyme acid α-glucosidase. The classic form is characterized by severe cardiac involvement, generalized hypotonia and exitus early in life. Presenting symptoms and signs of the disease may be neglected or underestimated, thus delaying the diagnosis. Respiratory manifestations mainly occur because of respiratory muscle weakness. However, additional mechanisms can favor the development of pulmonary complications that result in fatal respiratory failure. We herein describe a case of an infant with glycogenosis type II presenting with hepatomegaly and hypertransaminasemia, who rapidly developed fatal lung disease. PMID:23391190

  7. A Rare Case of Persistent Lactic Acidosis in the ICU: Glycogenic Hepatopathy and Mauriac Syndrome

    PubMed Central

    Alvarez, George F.

    2016-01-01

    Mauriac syndrome is a rare disorder that can present with the single feature of glycogenic hepatopathy in children and adults with poorly controlled diabetes mellitus. An often underrecognized finding of glycogenic hepatopathy is lactic acidosis and hyperlactatemia. Primary treatment of glycogenic hepatopathy is improved long-term blood glucose control. Resolution of symptoms and hepatomegaly will occur with improvement in hemoglobin A1C. We present here a case of a young adult female presenting to the intensive care unit with Mauriac syndrome. This case demonstrates exacerbation of lactic acidosis in a patient with glycogenic hepatopathy treated for diabetic ketoacidosis with high dose insulin and dextrose. PMID:27699071

  8. [Ulcerative colitis and amyloidosis. Presentation of a case and review of the literature].

    PubMed

    Triviño, A; Sánchez Lombraña, J L; Linares, A; Pérez, R; Herrero Zapatero, A; Rodrigo, L

    1992-08-01

    A case of ulcerative colitis associated with secondary amyloidosis in a 62-year-old man who died from septic shock and pneumonia complicating head injury is reported. Amyloid deposition was incidentally found at autopsy. Proteinuria and hepatomegaly discovered a few days before his death were the only signs of amyloidosis. The postmortem examination showed chronic ulcerative colitis (remitting form) with pseudo-polyps and amyloid deposition in the liver, spleen, pancreas, rectum, adrenals and kidneys. Although secondary amyloidosis complicating with Crohn's disease has been frequently reported, amyloidosis associated with ulcerative colitis has been exceptionally described and only 10 cases have been collected from the literature.

  9. [Chronic Budd-Chiari syndrome can cause liver cirrhosis].

    PubMed

    Karlsen, Stine; Nielsen, Dennis Tønner; Grønbæk, Henning

    2012-06-11

    Budd-Chiari syndrome (BCS) is a rare disease defined by congestive hepatopathy with obstruction of the hepatic venous outflow tract. Classical symptoms and signs include ascites, hepatomegaly, abdominal pain and various degrees of liver dysfunction. BCS is predominantly caused by thrombosis, malformations and venous compression. We present a case, in which BCS was the cause of liver cirrhosis complicated with refractory ascites and which can be misinterpreted as hepatocellular carcinoma nodules. The diagnosis was confirmed during the transjugular intrahepatic portosystemic shunt procedure with successful vascular stenting resolving the ascites formation.

  10. Wiskott-Aldrich syndrome is an important differential diagnosis in male infants with juvenile myelomonocytic leukemialike features.

    PubMed

    Watanabe, Nobuhiro; Yoshimi, Ayami; Kamachi, Yoshiro; Kawabe, Takashi; Muramatsu, Hideki; Matsumoto, Kimikazu; Manabe, Atsushi; Kojima, Seiji; Kato, Koji

    2007-12-01

    A newborn presented with thrombocytopenia at birth and subsequently developed leukocytosis, monocytosis, and mild hepatomegaly. The bone marrow was normocellular with dysplasia and spontaneous granulocyte-monocyte colony formation was demonstrated. These findings fulfilled the diagnostic criteria of juvenile myelomonocytic leukemia. Then he developed atopic dermatitislike eczema, which led to the consideration of Wiskott-Aldrich syndrome (WAS). Lack of intracellular WASP expression and WASP gene mutation confirmed the diagnosis of WAS. After stem cell transplantation, he is alive in good condition with normal WASP expression. WAS should be considered as a differential diagnosis in male infants with juvenile myelomonocytic leukemialike features.

  11. Progeria with post-streptococcal glomerulonephritis: a rare case report with differential diagnosis.

    PubMed

    Sebastian, Alphy A; Ahsan, Auswaf K

    2013-02-01

    Hutchinson-Gilford progeria syndrome is a rare autosomal dominant disorder associated with skin fragility. It is characterized by craniofacial disproportion, delayed dentition, micrognathia, and plucked bird appearance. The genetic defect is mainly de nova mutation in the lamin A gene. This report describes a 16-year-old patient with classical features of progeria along with post-streptococcal glomerulonephritis. The symptoms of hepatomegaly were also present in the patient. The differential diagnoses of this lesion are also discussed in detail in this literature.

  12. [Hemophagocytic syndrome associated to hepatitis].

    PubMed

    Sandoval-Ramírez, Eunice; Camacho-Meza, Ignacio; Eduardo-Solís, Nery; Plascencia-Tabares, Oswaldo; Navarro-Olivos, Efraín; Ortiz-Aldana, Francisco Ignacio

    2016-01-01

    Hemophagocytic syndrome is characterized by increased proliferation and activation of antigen presenting cells (histiocytes) in bone marrow and other organs of the reticuloendothelial system as well as CD8+ T cells that threatens life of patients. The predominant clinical manifestations such as fever, cytopenia, hepatitis, coagulopathy, neurological symptoms and multiple organ failure are related to systemic inflammation. We report the case of an infant who started with jaundice, abdominal pain, vomiting and malaise, at admission, hepatomegaly, splenomegaly and biochemically with features suggestive of hepatocellular inflammation and progressive cholestasis with poor outcome, it was added persistent fever, seizures, anemia, thrombocytopenia, leukopenia, elevated ferritin and hypertriglyceridemia integrating hemophagocytic syndrome with fatal outcome despite immunosuppressive therapy.

  13. Laparoscopic grasper for intramedullary biopsy: a technique to improve tissue sampling.

    PubMed

    Xia, Zhan; Takano, Angela Maria; Sittampalam, Kesavan; Howe, Tet Sen

    2014-08-01

    Fluorodeoxyglucose (FDG) hepatic superscan refers to the diffuse intense uptake of 18F-FDG in the liver on positron emission tomography (PET), with reduced physiological activity in the brain and heart. The common causes include lymphoma and metastasis. In this case report, we describe the imaging features of tuberculosis as a rare cause of FDG hepatic superscan. PET imaging may be the only clue to a diagnosis of hepatic tuberculosis, as other imaging modalities may demonstrate only nonspecific hepatomegaly. It is important to consider this entity in the differential diagnosis of patients presenting with FDG hepatic superscan and proceed with liver biopsy for a definitive diagnosis.

  14. A case of Budd-Chiari syndrome associated with alveolar echinococcosis.

    PubMed

    Karadas, Sevdegul; Cumhur, Dulger Ahmet; Bilge, Gultepe; Mehmet, Beyazal; Mustafa, Kosem

    2014-04-01

    Alveolar echinococcosis of the liver is caused by the tapeworm Echinococcus multilocularis. Budd-Chiari Syndrome (BCS) is a hepatic venous outflow tract obstruction and involves abdominal pain, hepatomegaly and high-gradient ascites. A low-gradient ascites in connection with the syndrome rarely occurs in case of alveolar echinococcosis of the liver. Here we report a 20-year-old man with the syndrome and low-gradient ascites due to a huge liver mass. Further diagnostic examination revealed alveolar echinococcosis of the liver. Diuretic agents and albendazole were used as palliative therapy in the case.

  15. Spotted black snake (Pseudechis guttatus) envenomation in a maned wolf (Chrysocyon brachyurus).

    PubMed

    Portas, Timothy J; Montali, Richard J

    2007-09-01

    Envenomation by a spotted black snake (Pseudechis guttatus), following multiple bites on the buccal mucosa of a captive maned wolf (Chrysocyon brachyurus), caused the animal's collapse, hemolysis, rhabdomyolysis, local tissue necrosis, hepatic and renal failure, and subsequent death. The wolf died despite intensive supportive care including antivenom administration, fluid support, and a blood transfusion. Gross necropsy findings included myocardial and intestinal hemorrhage, pulmonary congestion, hepatomegaly, and splenomegaly. Microscopic examination of formalin-fixed tissues demonstrated pulmonary and abdominal visceral hemorrhage, acute nephrosis with casts, multifocal hepatic necrosis, and splenic congestion.

  16. Massive intracranial immature teratoma with extracranial extension into oral cavity, nose, and neck.

    PubMed

    Alagappan, A; Shattuck, K E; Rowe, T; Hawkins, H

    1998-01-01

    We present a case of congenital massive intracranial teratoma with extracranial extension into oral cavity, nose, and neck diagnosed by antenatal ultrasonography at 25 weeks of gestation. The fetus was delivered by cesarean section because of massive fetal head size and severe maternal pregnancy-induced hypertension. At necropsy the tumor was found to be an immature teratoma, with no recognizable normal brain tissue. An additional finding was hepatomegaly secondary to extensive extramedullary hematopoiesis. Karyotyping of both the fetus and the teratoma revealed a normal female chromosomal composition: 46,XX.

  17. Leiomyosarcoma metastatic to the liver: CT appearance.

    PubMed

    Noon, M A; Young, S W; Castellino, R A

    1980-08-01

    Leiomyosarcoma is an uncommon malignancy that metastasizes to the liver and lungs. Each of the three cases of leiomyosarcoma metastatic to the liver examined by computed tomography demonstrated similar morphologic and dynamic characteristics. Common features included hepatomegaly and large, circumscribed "cannonball" lesions that distorted normal hempatic architecture. These larger metastases were sharply defined with central necrosis and were accentuated by contrast enhancement of normal surrounding liver. Smaller perfused metastases often became isodense following contrast medium administration. This combination of features and effects should alert one to the possible diagnosis of metastatic leiomyosarcoma and cautions against underestimating the extent of disease by having precontrast control scans for comparison.

  18. Liver involvement in Langerhans cell histiocytosis.

    PubMed

    Wong, Adelaine; Ortiz-Neira, Clara L; Reslan, Walid Abou; Sharon, Raphael; Pinto-Rojas, Alfredo; Kaura, Deepak; Anderson, Ronald

    2006-10-01

    Liver involvement in Langerhans cell histiocytosis (LCH) typically presents with hepatomegaly and other signs of liver dysfunction. We present an 11-month-old child having only minimally elevated liver enzymes as an indication of liver involvement. Using sonography as the initial diagnostic tool followed by MRI, LCH of the liver was revealed. A review of sonographic, CT, MRI and MR cholangiopancreatography findings in liver LCH is presented. We recommend that physicians consider sonography and MRI screening for liver involvement in patients with newly diagnosed LCH, as periportal involvement may be present with little or no liver function abnormality present, as in this patient.

  19. Primary lymphoma of the liver. Report of a case with diagnosis by fine needle aspiration.

    PubMed

    Netto, D; Spielberger, R; Awasthi, S; Balaban, E P; Nowak, J A; Demian, S D

    1993-01-01

    In a 69-year-old man with hepatomegaly, a diagnosis of primary non-Hodgkin's lymphoma (NHL) of the liver was made by fine needle aspiration (FNA). At the time of presentation there was no evidence of involvement of the lymph nodes, bone marrow or any other organ. Although hepatic involvement is common in advanced stages of Hodgkin's disease and NHL, primary lymphoma of the liver is rare. The purpose of this paper is to report a rare occurrence of primary lymphoma of the liver and to demonstrate the possibility of making this diagnosis by FNA.

  20. Vitamin B deficiencies in a critically ill autistic child with a restricted diet.

    PubMed

    Baird, J Scott; Ravindranath, Thyyar M

    2015-02-01

    An 11-year-old male with autism became less responsive and was hospitalized with hepatomegaly and liver dysfunction, as well as severe lactic acidosis. His diet for several years was self-limited exclusively to a single "fast food"-a particular type of fried chicken-and was deficient in multiple micronutrients, including the B vitamins thiamine and pyridoxine. Lactic acidosis improved rapidly with thiamine; 2 weeks later, status epilepticus-with low serum pyridoxine-resolved rapidly with pyridoxine. Dietary B vitamin deficiencies complicated the care of this critically ill autistic child and should be considered in this setting. © 2014 American Society for Parenteral and Enteral Nutrition.

  1. Pulmonary Echinococcus multilocularis metastasis in a dog

    PubMed Central

    Gendron, Karine; Goepfert, Christine; Linon, Elisa; Posthaus, Horst; Frey, Caroline F.

    2015-01-01

    A young adult Labrador retriever dog was presented for surgical debulking of hepatic alveolar echinococcosis. Computed tomography detected hepatomegaly with multiple large cavitary masses with extension of tissue from a lesion wall into the caudal vena cava and numerous nodules in all lung lobes. Following euthanasia, histology confirmed parasitic vesicles with granulomatous reaction in all lesions, and polymerase chain reaction (PCR) established the causative agent to be Echinococcus multilocularis. This report is the first to present imaging features of pulmonary E. multilocularis granulomata in a dog. PMID:25750447

  2. Hyperimmunoglobulinemia D and periodic fever syndrome; treatment with etanercept and follow-up.

    PubMed

    Topaloğlu, Rezan; Ayaz, Nuray Aktay; Waterham, Hans R; Yüce, Aysel; Gumruk, Fatma; Sanal, Ozden

    2008-10-01

    The hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) is an autoinflammatory syndrome. It is caused by the mutations of the mevalonate kinase gene. There is no consensus for specific therapy of HIDS, but there are some case reports and studies in regards to its treatment with drugs like colchicine, steroids, nonsteroid anti-inflammatory drugs, simvastatin, anakinra, thalidomide, and etanercept. We are reporting a case evaluated for the complaints of abdominal pain and febrile episodes with massive hepatomegaly, not common finding on physical examination, its treatment with etanercept, and long-term follow-up.

  3. Lambda light chain myeloma presenting as nodular hepatic lesion: a clinical rarity.

    PubMed

    Pal, Santanu; Chattopadhyay, Bitoti; Chatterjee, Atri; Bhattacharya, Biswamit

    2014-01-01

    We report a case of a 63-year-old lady presenting with pain in the right hypochondrium, jaundice, anorexia, and firm tender hepatomegaly with remarkably high serum alkaline phosphatase. Abdominal ultrasonography revealed a hypoechoic solid space-occupying lesion in right lobe of liver which was cytologically diagnosed as hepatic plasmacytoma. Serum and urine immunofixation electrophoresis, serum free light chain ratio, and bone marrow examination further confirmed the presence of lambda light chain multiple myeloma in the background. The patient achieved complete remission after four cycles of induction therapy with thalidomide and dexamethasone protocol and consolidated with further four cycles of the same regimen.

  4. Brainstem micro-abscesses caused by Burkholderia pseudomallei in a 10-month-old infant: a case report.

    PubMed

    Prasanna Kumar, M; Krishnamurthy, Sriram; Venkateswaran, V S; Mahadevan, Subramanian; Lalitha, M; Sistla, Sujatha; Nagarajan, K

    2017-08-01

    Melioidosis is an uncommon tropical infectious disease caused by Burkholderia pseudomallei. Neurological complications of melioidosis are extremely uncommon in infants. A 10-month-old girl is described who presented with disseminated melioidosis with subcutaneous nodules, arthritis, hepatomegaly and a lung cavity, and developed a left medial rectus palsy. Cranial MRI demonstrated mid-brain, pontine and basal ganglia micro-abscesses. Therapy with meropenem and cotrimoxazole led to resolution of the medial nerve palsy. At 5-month follow-up, the child had no residual neurological deficits.

  5. [Melioidosis: report of the first case in a northern state of México].

    PubMed

    Boroel-Cervantes, Carlos; Ibarra-Valdez, Mónica; Miranda-Pacheco, Sandra; Sánchez-Camarena, Elías; Wolburgth-Franco, Tamara; Ortìz-González, Andrés; Domínguez-Ríos, José Luis

    2017-01-01

    The melioidosis, is an infection caused by Burkhordelia pseudomallei that comprises heterogeneous clinical syndromes with acute or chronic evolution. The objective of this article is to report a case with unusual presentation and outside the known epidemiological context. We present the case of a 48-year-old man who came to our hospital with fever and a history of an abscess in the right subscapular region, physical examination showed hepatomegaly, splenomegaly, fever, without pulmonary symptoms. Within study it reveal multiple abscesses in liver and spleen, requiring surgical exploration and antibiotics (meropenem/vancomycin). Blood cultures reveal Burkhordelia pseudomallei adding trimethoprim/sulfamethoxazole with resolution of symptoms.

  6. Autoimmune Lymphoproliferative Syndrome (ALPS) in a Boy with Massive Lymphadenopathy.

    PubMed

    Kianifar, Hamid Reza; Khalesi, Maryam; Farid, Reza; Badiee, Zahra; Rastin, Maryam; Ahanchian, Hamid

    2010-09-01

    Autoimmune lymphoproliferative syndrome (ALPS) is an uncommon nonmalignant lymphoproliferative disease which is characterized by chronic, persistent or recurrent lymphadenopathy, splenomegaly, hepatomegaly, immune cytopenia , hypergammaglobinemia and increased risk of lymphoma. We report a 2-year old boy with hepatosplenomegaly as first presentation. Petechial and purpuric rashes with massive cervical lymphadenopathies developed 10 months later.In laboratory tests anemia, thrombocytopenia and hypergammaglobinemia were observed. According to flocytometry increased double negative T cells and by apoptosis assay decrease apoptosis of lymphocytes accompanied clinical manifestations, thus diagnosis of ALPS was established. In conclusion; in all patients with massive lymphadenopathy and hepatosplenomegay; especially with cytopenia; ALPS should be considered.

  7. Primary Hepatic Amyloidosis Presenting as Acute-on-Chronic Liver Failure

    PubMed Central

    Rangegowda, Devaraja; Vyas, Tanmay; Kulkarni, Anand; Grover, Shrruti; Mahiwall, Rakhi; Sarin, Shiv Kumar

    2017-01-01

    Systemic amyloidosis of amyloid light chain associated protein (AL), also called primary amyloidosis, frequently involves the liver, but rarely causes clinically apparent liver disease. The more common presentation is with acute renal failure. Hepatomegaly and mild elevation of alkaline phosphatase are the most common clinical and biochemical findings, respectively. We report a case of systemic amyloidosis of AL that clinically presented as acute-on-chronic liver failure and resulted in a fatal clinical course in a 56-year-old man. PMID:28286788

  8. [Liver involvement in hemophagocytic syndrome].

    PubMed

    Larroche, Claire; Ziol, Marianne; Zidi, Sémia; Dhote, Robin; Roulot, Dominique

    2007-11-01

    Hemophagocytic syndrome (HPS), whether familial or acquired, is a clinico-pathological entity, characterized by uncontrolled hyper-inflammation, leading sometimes to a lifethreatening condition. Liver dysfunction is central in HPS: hepatomegaly is discovered in half cases, liver enzyme elevation and/or cholestasis are very frequent, cholestasis is a prognostic factor, and liver biopsy is often necessary to confirm HPS and to diagnose the underlying disorders in secondary HPS. The spectrum is large from acquired SAM than can be cured with the treatment of his trigger, to genetic cases only cured by stem cell transplantation.

  9. Fasciolopsiasis in a five year old girl.

    PubMed

    Naher, B S; Shahid, A T; Khan, K A; Nargis, S; Hoque, M M

    2013-04-01

    A 5 year old girl hailing from Keraniganj, presented with the complaints of fever, periumbilical pain and vomiting. In vomitus, Fasciolopsis buski worm in adult form was identified by naked eye examination. In stool, ova of Fasciolopsis buski were also observed under microscope. Clinically she was pale and had hepatomegaly. Microcytic hypochromic anaemia with normal liver function test was found on lab investigation. She was diagnosed as a case of Fasciolopsiasis and treated with Praziquantel and on follow up visit she was found to be free of symptom.

  10. Leber's congenital amaurosis associated with hyperthreoninemia.

    PubMed

    Hayasaka, S; Hara, S; Mizuno, K; Narisawa, K; Tada, K

    1986-04-15

    Two siblings had Leber's congenital amaurosis. The girl (Patient 1) showed blindness shortly after birth, absent pupillary light reflex, and multiple round, white spots in both fundi. Her serum threonine level was increased (2.0 to 5.3 mg/dl; normal, 0.78 to 1.82 mg/dl). She died of massive pericardial effusion four months after birth. Her brother (Patient 2) was nearly blind shortly after birth. He had a poor pupillary light reflex and a nearly extinguished electroretinographic response. He also had hyperthreoninemia, hyperthreoninuria, hepatomegaly, and mental and physical retardation. We suspect a close relationship between hyperthreoninemia and Leber's congenital amaurosis in these siblings.

  11. The first case of leptospirosis in the Zadar area.

    PubMed

    Dzelalija, B; Ruzić, E; Kasun, D

    2000-01-01

    In September 1999, a 56-year-old butcher was admitted to the General Hospital in Zadar because of fever, headache, severe pain in the calf muscles and thighs, conjunctivitis, rash, hepatomegaly and jaundice. The initial diagnosis was septic shock, and the patient was admitted to the internal medicine ward. Microscopic agglutination test showed a fourfold rise of antibodies to Leptospira sejroe in the three serum samples. These serologic findings and laboratory findings of leukocytosis, thrombocytopenia, increased serum aminotransferases, blood urea nitrogen and creatinine, proteinuria and leukocyturia indicated that Leptospira sejroe was the etiologic agent of the disease in the patient presented.

  12. Wandering biliary ascariasis with hepatic abscess in a postmenopausal woman.

    PubMed

    Nahar, N; Khan, N; Islam, S M; Chakraborty, R K; Rima, S Z; Alam, M N; Roy, A S

    2014-10-01

    Hepatobiliary ascariasis is common in developing countries where there is a low standard of public health and hygiene. We are reporting a rare case of ascariasis which induced multiple liver abscesses in a post menopausal woman who presented with fever, anorexia, nausea, vomiting and mild hepatomegaly. Ultrasonography revealed biliary ascariasis with multiple hepatic abscesses. Laparoscopic drainage of hepatic abscesses was done and microscopic examination of drainage materials showed decorticated eggs of Ascaris Lumbricoides. The post operative recovery of the patient was uneventful. Ultrasonography is a reliable modality to diagnose and follow up of such cases.

  13. PERCUTANEOUS LAPAROSCOPIC TROCAR DRAINAGE OF HEPATIC ABSCESS IN A SICKLE CELL DISEASE PATIENT - A CASE REPORT.

    PubMed

    Afuwape, O O; Chibuzo, I N C; Ayandipo, O O; Nwafulume, N A

    2015-12-01

    Hepatic abscess as a manifestation of sickle cell disease is rare. A 25 year old Nigerian male with sickle cell disease presented with right sided upper abdominal pain, fever, massive hepatomegaly, neutrophilic leucocytosis and mildly deranged liver enzymes. Sonographic findings were a large thin walled right hepatic lobe abscess; with an estimated volume of 2000ml. He had percutaneous laparoscopic trocar drainage of 2250mls of pus with insertion of a drain. The drain was removed after ten days and the patient was discharged home.

  14. [Neonatal dengue in Peru: a case report].

    PubMed

    Silva Delgado, Hermann; Ruiz Ríos, Juan Carlo; Vela Barbarán, Erick Leray; Rengifo Del Aguila, Deicy; García M, María; Rodríguez Benavides, Luis; Mendoza-Ticona, Alberto

    2011-03-01

    We present the case of a full-term female newborn, whose mother died seven days postpartum from multi-organ failure due to severe dengue confirmed by NS1 antigen detection and positive IgM. The newborn did not have any complication, but at the fourth day of life she developed fever, jaundice, signs of plasma leakage, thrombocytopenia, hepatomegaly, ascitis, and others signs of systemic inflammation response syndrome. She fully recovered with supportive treatment. The RT-PCR test of a peripheral blood sample revealed a positive result for the dengue virus serotype 2, confirming the first case of neonatal dengue reported in Peru.

  15. [Multiple myeloma (IgG-kappa) infiltrating central nervous system, lymph nodes, liver, and kidneys, and with elevation of IgE].

    PubMed

    Toyota, Shigeo; Nakamura, Norihiko; Dan, Kazuo

    2004-05-01

    A 63-year-old man was admitted because of general malaise, fever, headache, generalized lymphadenopathy and hepatomegaly in July 2002. He was diagnosed as having multiple myeloma (MM) (IgG-kappa type) with atypical plasma cells in the bone marrow, lymph nodes and cerebrospinal fluid. Systemic and intrathecal chemotherapy were effective. Because of an increase of polyclonal IgE, electrophoretic patterns revealed an M-peak which was not as sharp as that in IgG myeloma. IgE production is not impaired by the pathologic process in MM patients.

  16. Capillary bedside blood glucose measurement in neonates: missing a diagnosis of galactosemia.

    PubMed

    Özbek, Mehmet Nuri; Öcal, Murat; Tanrıverdi, Sibel; Baysal, Birsen; Deniz, Ahmet; Öncel, Kahraman; Demirbilek, Hüseyin

    2015-03-01

    A number of factors may lead to inaccuracy in measurement of capillary blood glucose with a glucometer. Measurement of other carbohydrate molecules such as galactose and fructose along with glucose can potentially be a cause of error. We report a newborn patient who was referred to our hospital with conjugated bilirubinemia, hepatomegaly and high capillary blood glucose levels measured with a glucometer. Simultaneous biochemical measurements revealed normal blood glucose levels. Further investigation led to a diagnosis of classical galactosemia. Capillary blood glucose level measured with glucometer also dropped to normal values following cessation of breastfeeding and initiation of feeding with a lactose-free formula.

  17. Galactosemia presenting as recurrent sepsis.

    PubMed

    Rathi, Narendra; Rathi, Akanksha

    2011-12-01

    Galactosemia is a treatable metabolic disorder caused by the deficiency of enzyme galactose-1-phosphate uridyl transferase (GALT) and inherited as an autosomal recessive trait. A case of neonate manifesting with recurrent Escherichia coli sepsis is presented here which turned out to be a classic galactosemia. No other common presenting features were observed in this infant except cataract on slit lamp examination. To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, vomiting, diarrhea, failure to thrive, hypoglycemia, coagulopathy, hemolysis or renal tubular acidosis.

  18. Integrated imaging of hepatic tumors in childhood. Part II. Benign lesions (congenital, reparative, and inflammatory)

    SciTech Connect

    Miller, J.H.; Greenspan, B.S.

    1985-01-01

    The authors have encountered benign liver masses as frequently as malignant lesions in children with hepatomegaly. Lesions studied included abscesses, cavernous hemangioma/hemangioendothelioma, adenoma of glycogen storage disease, choledochal cysts, focal nodular hyperplasia, cystic hepatoblastoma, and hamartoma. An intergrated imaging protocol involving ultrasound, computed tomography, and scintigraphy proved to be more helpful than any one modality in establishing the benign or malignant nature of a hepatic neoplasm and the type of tumor, which is of particular importance when surgical exploration and/or biopsy is contraindicated.

  19. Mauriac syndrome: growth failure and type 1 diabetes mellitus.

    PubMed

    Kim, Mimi S; Quintos, J B

    2008-08-01

    Growth failure in Type 1 Diabetes Mellitus (T1DM) can occur for several reasons. Mauriac syndrome is a rare cause of severe growth failure in T1DM. There may be different forms and etiologies involved in Mauriac syndrome. However, there are common features noted in these patients. We have compiled a review of cases reported in English in the last 30 years. With adequate insulin treatment there is reversal of growth failure and hepatomegaly if present. However, overly aggressive insulin delivery could result in rapid deterioration of diabetic retinopathy and nephropathy. Close monitoring of growth and pubertal maturation in children with T1DM is essential.

  20. Ruptured chordae tendineae of the posterior leaflet of the tricuspid valve as a cause of tricuspid regurgitation following blunt chest trauma.

    PubMed

    dos Santos, J; de Marchi, C H; Bestetti, R B; Corbucci, H A; Pavarino, P R

    2001-01-01

    A 12-year-old boy suffered a blunt chest trauma. Some hours later, a pulsatile bilateral jugular venous distension, a holosystolic murmur heard at the low parasternal border and hepatomegaly were observed. On echocardiography, ruptured chordae tendineae of the posterior leaflet of the tricuspid valve, as well as tricuspid regurgitation were detected. He remained asymptomatic during hospital stay and was discharged home in good condition. Thus, isolated ruptured chordae tendineae of the posterior leaflet of the tricuspid valve is another cause of tricuspid regurgitation following blunt chest trauma.

  1. Computed tomography of the spleen and liver in sickle cell disease

    SciTech Connect

    Magid, D.; Fishman, E.K.; Siegelman, S.S.

    1984-08-01

    The spleen was assessed in 10 patients with sickle cell disease studied with computed tomography (CT) for abdominal pain and/or unexplained fever. Patients with homozygous sickle cell anemia were found to have small, densely calcified spleens with occasional low-density infarcts. Five of six had hepatomegaly, and there was one case each of hepatic abscess, infarcts, and hemochromatosis. All patients with heterozygous sickle cell disease were found to have splenomegaly, with a variety of findings including acute hemorrhage, acute and chronic infarcts, rupture, and possible sequestration. It was concluded that CT is useful for evaluating the status of the spleen and liver in symptomatic patients with sickle cell disease.

  2. Disseminated Coccidioidomycosis with Clinically Evident Splenomegaly in an Immunocompetent Host, First Case Reported in the literature

    PubMed Central

    Bird, Garrett R.; Libke, Robert D.; Billelo, John F.; Parks, Nancy A.; Pollard, John S.

    2009-01-01

    Coccidioidomycosis is a dimorphic fungus endemic to the southwestern United States, Central and South America. We report a case of a previously healthy person who presented with respiratory failure and disseminated Coccidioidomycosis who eventually had a fatal outcome. Coccidioidomycosis, or “Valley Fever” has been called the “great imitator” (1) as it can have a wide variety of clinical presentations. This case is unique as it represents the first described case of an immunocompetent host with rapidly progressing, disseminated coccidioidomycosis with clinically apparent splenomegaly and hepatomegaly. PMID:21264046

  3. The epidemiology of schistosomiasis in Egypt: Ismailia governorate.

    PubMed

    Nooman, Z M; Hasan, A H; Waheeb, Y; Mishriky, A M; Ragheb, M; Abu-Saif, A N; Abaza, S M; Serwah, A A; El-Gohary, A; Saad, A; El-Sayed, M; Fouad, M

    2000-02-01

    A multi-stage stratified sample of 12,515 individuals from 1,941 households in 42 villages in the Ismailia governorate of Egypt were surveyed for schistosomal infection. A subset of 2,390 subjects were surveyed for morbidity by physical and ultrasonographic examination. The prevalence of Schistosoma mansoni infection in rural Ismailia was 42.9% and the geometric mean egg count (GMEC) was 93.3 eggs/gram of stool, with considerable variability between communities. Prevalence and intensity peaked in the 20-30-year-old age group and was higher in males than in females. Prevalence and intensity of S. haematobium was very low: 1.8% and 3.5 ova/10 ml of urine GMEC, respectively. Canal water exposure risk factors for S. mansoni infection were males bathing (odds ratio [OR] = 2.2), females washing clothes (OR = 1.9), and children playing or swimming (OR = 2.3). Presence of in-house piped water supply and latrine lowered infection rates (P < 0.001 and P = 0.002, respectively). Histories of S. mansoni infection (OR = 1.6) or treatment (OR = 1.5) and blood in feces (OR = 3.5) were associated with infection. Hepatomegaly (16.0%) was more frequently detected than splenomegaly (3.6%) by physical examination, with both being more frequent in older age groups. Splenomegaly, but not hepatomegaly, was associated with presence of S. mansoni ova in stools (OR = 1.4) and the community burden of infection (P = 0.02). Ultrasonographically detected hepatomegaly, splenomegaly, and periportal fibrosis (PPF) were detected in 43.0%, 17.4%, and 39.7% of the subjects, respectively. The higher grades of PPF were rare. Ultrasonographically detected splenomegaly, not hepatomegaly, was associated with S. mansoni infection, community burden of infection, and PPF. Risk factors for PPF were the same as for S. mansoni infection. There was a marginal association of PPF with infection and none (P = 0.33) with the intensity of infection in individuals or in the community. We conclude that in rural Ismailia

  4. Farber's disease type IV presenting with cholestasis and neonatal liver failure: report of two cases.

    PubMed

    Willis, Asha; Vanhuse, Cherie; Newton, Kimberly P; Wasserstein, Melissa; Morotti, Raffaella A

    2008-01-01

    We report 2 siblings diagnosed with Farber's disease type IV. Type IV is a subtype of Farber's disease that presents in the neonatal period and usually initially lacks the triad of symptoms, including painful and deformed joints, subcutaneous nodules, and hoarse cry, classically seen in the other subtypes. While it is well known that all neonates with type IV present with hepatomegaly, a previously unrecognized presentation is that of cholestatic jaundice and rapidly evolving liver failure. We describe 2 siblings who presented with jaundice in the neonatal period and discuss the clinical data and variation in pathologic findings that should be considered for the diagnosis.

  5. [Congenital tumor-like histiocytosis of the liver with cholestasis in a newborn infant].

    PubMed

    Cermáková, M; Stejskal, J

    1983-05-01

    A female newborn weighing 2650 g had hepatomegaly and deepening obstructive jaundice. She died of hepatic failure three weeks later. There were grayish white periportal histiocytic nodules of 1-2 mm in diameter. Histiocytes contained a small amount of neutral lipids and PAS-positive material. Single elements had multiple nuclei arranged in circles like in Touton cells. Bile duct and ductules were among them. The picture resembled the C variant of Niemann-Pick's disease but basic histochemical tests on fixed tissue excluded this possibility. The pathogenesis of unique disease remained obscure.

  6. A Post-Developmental Genetic Screen for Zebrafish Models of Inherited Liver Disease

    PubMed Central

    Kim, Seok-Hyung; Wu, Shu-Yu; Baek, Jeong-In; Choi, Soo Young; Su, Yanhui; Flynn, Charles R.; Gamse, Joshua T.; Ess, Kevin C.; Hardiman, Gary; Lipschutz, Joshua H.; Abumrad, Naji N.; Rockey, Don C.

    2015-01-01

    Nonalcoholic fatty liver disease (NAFLD) is one of the most common causes of chronic liver disease such as simple steatosis, nonalcoholic steatohepatitis (NASH), cirrhosis and fibrosis. However, the molecular pathogenesis and genetic variations causing NAFLD are poorly understood. The high prevalence and incidence of NAFLD suggests that genetic variations on a large number of genes might be involved in NAFLD. To identify genetic variants causing inherited liver disease, we used zebrafish as a model system for a large-scale mutant screen, and adopted a whole genome sequencing approach for rapid identification of mutated genes found in our screen. Here, we report on a forward genetic screen of ENU mutagenized zebrafish. From 250 F2 lines of ENU mutagenized zebrafish during post-developmental stages (5 to 8 days post fertilization), we identified 19 unique mutant zebrafish lines displaying visual evidence of hepatomegaly and/or steatosis with no developmental defects. Histological analysis of mutants revealed several specific phenotypes, including common steatosis, micro/macrovesicular steatosis, hepatomegaly, ballooning, and acute hepatocellular necrosis. This work has identified multiple post-developmental mutants and establishes zebrafish as a novel animal model for post-developmental inherited liver disease. PMID:25950913

  7. PPARα-dependent increase of mouse urine output by gemfibrozil and fenofibrate.

    PubMed

    Song, Danjun; Luo, Min; Dai, Manyun; Bu, Shizhong; Wang, Weihua; Zhang, Burong; Gonzalez, Frank J; Liu, Aiming

    2017-02-01

    While gemfibrozil and fenofibrate are prescribed for anti-dyslipidemia treatment, a rational basis for the use of these drugs for treatment of dyslipidemia with concurrent metabolic syndrome has not been established. In this study, wild-type and Pparα-null mice were fed gemfibrozil- or fenofibrate-containing diets for 14 days. Urine output (24 h) was monitored, and urine, serum, and liver and kidney tissues were subjected to toxicity assessment. A 2-month challenge followed by a 2-week wash-out was performed for gemfibrozil to determine urine output and the potential toxicity. A therapeutically equivalent dose of gemfibrozil was more effective than fenofibrate in increasing urine output. This regulatory effect was not observed in Pparα-null mice. In contrast, hepatomegaly induced by fenofibrate was more pronounced than that of gemfibrozil. No significant toxicity was observed in liver or kidney in the 2-month treatment with gemfibrozil. These data demonstrated PPARα mediates the increased urine output by fibrates. Considering the relative action on hepatomegaly and the regulatory effect on urine output, gemfibrozil may be the preferable drug to increase urine output. These results revealed a new pharmacodynamic effect of clinically prescribed PPARα agonists and suggested the potential value of gemfibrozil in modification of blood pressure.

  8. Venous outflow obstruction and portopulmonary hypertension after orthotopic liver transplantation

    PubMed Central

    Aguirre-Avalos, Guadalupe; Covarrubias-Velasco, Marco Antonio; Rojas-Sánchez, Antonio Gerardo

    2013-01-01

    Patient: Female, 54 Final Diagnosis: Suprahepatic inferior vena cava anastomosis stricture Symptoms: Ascites • fatigue • lower limb edema • hepatomegaly Medication: — Clinical Procedure: — Specialty: Transplantology • Critical Care Medicine Objective: Unusual clinical course Background: Suprahepatic inferior vena cava anastomosis stricture is an unusual vascular complication after orthotopic liver transplantation with the “piggyback” technique. Clinical manifestations are dependent upon the severity of the stenosis. Portopulmonary hypertension after orthotopic liver transplantation is a complication that carries high mortality due to cardiopulmonary dysfunction. The pathogenesis of pulmonary vascular disorders after orthotopic liver transplantation remains uncertain. Case Report: We report a case of acute right heart pressure overload after surgical correction of the suprahepatic inferior vena cava anastomotic stricture in a 54-year-old woman who had preexisting pulmonary arterial hypertension associated with portal hypertension after orthotopic liver transplantation. Twenty months posttransplantation, she developed fatigue and progressive ascites. On admission, the patient had hepatomegaly, ascites, and lower limb edema. Symptoms in the patient developed gradually over time. Conclusions: Recurrent portal hypertension by vascular complications is a cause of pulmonary arterial hypertension after orthotopic liver transplantation. Clinical manifestations of suprahepatic inferior vena cava anastomotic stenosis are dependent upon their severity. Sildenafil is an effective drug for treatment of pulmonary arterial hyper-tension after portal hypertension by vascular complications. PMID:24046802

  9. Treatment-naïve Gaucher disease patients achieve therapeutic goals and normalization with velaglucerase alfa by 4years in phase 3 trials.

    PubMed

    Zimran, Ari; Elstein, Deborah; Gonzalez, Derlis E; Lukina, Elena A; Qin, Yulin; Dinh, Quinn; Turkia, Hadhami Ben

    2016-10-21

    Gaucher disease is an inherited metabolic disease characterized by β-glucocerebrosidase deficiency and commonly treated with enzyme replacement therapy (ERT). The efficacy of ERT with velaglucerase alfa was assessed based on the achievement of published therapeutic goals and the normalization of disease parameters in 39 treatment-naïve patients with type 1 Gaucher disease, 6 to 62years of age, enrolled in phase 3 clinical trials. After 4years of ERT, therapeutic goals for thrombocytopenia and splenomegaly had been achieved in 100% of patients; goals for anemia and hepatomegaly had been achieved in 95% and 94% of patients, respectively. Consistent with the goal for bone mineral density, lumbar spine bone density improved in 87% of patients ≥18years of age. At year 4, compared with clinical ranges for healthy individuals, 86% of patients with a low baseline hemoglobin concentration had normalized, 60% with a low baseline platelet count had normalized, 67% with baseline splenomegaly had normalized, 58% with hepatomegaly had normalized, and lumbar spine bone density had normalized in 53% of adults. The decade-old therapeutic goals do not reflect the potential for normalization of clinical parameters in ERT-treated patients. Goals consistent with normalization or near-normalization should be considered. ClinicalTrials.gov identifiers: NCT00430625, NCT00553631, NCT00635427.

  10. Alpha thalassemia among sickle cell anaemia patients in Kampala, Uganda.

    PubMed

    Lubega, Irene; Ndugwa, Christopher M; Mworozi, Edison A; Tumwine, James K

    2015-06-01

    Sickle cell anaemia is prevalent in sub Saharan Africa. While α+-thalassaemia is known to modulate sickle cell anaemia, its magnitude and significance in Uganda have hitherto not been described. To determine the prevalence of α+thalassaemia among sickle cell anaemia patients in Mulago Hospital and to describe the clinical and laboratory findings in these patients. A cross sectional study was carried out on patients with sickle cell anaemia in Kampala. Dried blood spots were used to analyze for the deletional α+ thalassaemia using multiplex polymerase chain reaction. Of the 142 patients with sickle cell anaemia, 110 (77.5%) had the αα+thalassaemia deletion. The gene frequency of (-α) was 0.425. Ninety one percent (100/110) of those with α+thalassaemia were heterozygous (αα/α-). Amongst the patients older than 60 months, 15 (83.3%) of those without αα+thalassaemia had significant hepatomegaly of greater than 4 cm compared to 36 (45.6%) of those with α+thalassaemia (p=0.003). The gene frequency of (-α) of 0.425 noted in this study is higher than that reported from many places in Africa. Concurrent alpha thalassemia might be a protective trait against significant hepatomegaly in sickle cell anaemia patients more than 60 months of age at Mulago hospital.

  11. Obesity-induced hepatic steatosis is mediated by endoplasmic reticulum stress in the subfornical organ of the brain

    PubMed Central

    Horwath, Julie A.; Hurr, Chansol; Butler, Scott D.; Guruju, Mallikarjun; Cassell, Martin D.; Mark, Allyn L.; Davisson, Robin L.; Young, Colin N.

    2017-01-01

    Nonalcoholic fatty liver disease (NAFLD), characterized by an excess accumulation of hepatic triglycerides, is a growing health epidemic. While ER stress in the liver has been implicated in the development of NAFLD, the role of brain ER stress — which is emerging as a key contributor to a number of chronic diseases including obesity — in NAFLD remains unclear. These studies reveal that chemical induction of ER stress in the brain caused hepatomegaly and hepatic steatosis in mice. Conversely, pharmacological reductions in brain ER stress in diet-induced obese mice rescued NAFLD independent of body weight, food intake, and adiposity. Evaluation of brain regions involved revealed robust activation of ER stress biomarkers and ER ultrastructural abnormalities in the circumventricular subfornical organ (SFO), a nucleus situated outside of the blood-brain-barrier, in response to high-fat diet. Targeted reductions in SFO-ER stress in obese mice via SFO-specific supplementation of the ER chaperone 78-kDa glucose–regulated protein ameliorated hepatomegaly and hepatic steatosis without altering body weight, food intake, adiposity, or obesity-induced hypertension. Overall, these findings indicate a novel role for brain ER stress, notably within the SFO, in the pathogenesis of NAFLD. PMID:28422749

  12. Discovery of a Genetic Metabolic Cause for Mauriac Syndrome in Type 1 Diabetes.

    PubMed

    MacDonald, Michael J; Hasan, Noaman M; Ansari, Israr-Ul H; Longacre, Melissa J; Kendrick, Mindy A; Stoker, Scott W

    2016-07-01

    A mechanistic cause for Mauriac syndrome, a syndrome of growth failure and delayed puberty associated with massive liver enlargement from glycogen deposition in children with poorly controlled type 1 diabetes, is unknown. We discovered a mutation in the catalytic subunit of liver glycogen phosphorylase kinase in a patient with Mauriac syndrome whose liver extended into his pelvis. Glycogen phosphorylase kinase activates glycogen phosphorylase, the enzyme that catalyzes the first step in glycogen breakdown. We show that the mutant subunit acts in a dominant manner to completely inhibit glycogen phosphorylase kinase enzyme activity and that this interferes with glycogenolysis causing increased levels of glycogen in human liver cells. It is known that even normal blood glucose levels physiologically inhibit glycogen phosphorylase to diminish glucose release from the liver when glycogenolysis is not needed. The patient's mother possessed the same mutant glycogen phosphorylase kinase subunit, but did not have diabetes or hepatomegaly. His father had childhood type 1 diabetes in poor glycemic control, but lacked the mutation and had neither hepatomegaly nor growth failure. This case proves that the effect of a mutant enzyme of glycogen metabolism can combine with hyperglycemia to directly hyperinhibit glycogen phosphorylase, in turn blocking glycogenolysis causing the massive liver in Mauriac disease. © 2016 by the American Diabetes Association. Readers may use this article as long as the work is properly cited, the use is educational and not for profit, and the work is not altered.

  13. The association of metabolic syndrome, insulin resistance and non-alcoholic fatty liver disease in overweight/obese children.

    PubMed

    El-Koofy, Nehal M; Anwar, Ghada M; El-Raziky, Mona S; El-Hennawy, Ahmad M; El-Mougy, Fatma M; El-Karaksy, Hanaa M; Hassanin, Fetouh M; Helmy, Heba M

    2012-01-01

    To study the prevalence of metabolic syndrome (MS), insulin resistance (IR) and non-alcoholic fatty liver disease (NAFLD) in overweight/obese children with clinical hepatomegaly and/or raised alanine aminotransferase (ALT). Thirty-three overweight and obese children, aged 2-13 years, presenting with hepatomegaly and/or raised ALT, were studied for the prevalence of MS, IR and NAFLD. Laboratory analysis included fasting blood glucose, serum insulin, serum triglycerides (TG), total cholesterol, high-density lipoprotein cholesterol (HDL-c), low-density lipoprotein cholesterol (LDL-c) and liver biochemical profile, in addition to liver ultrasound and liver biopsy. Twenty patients (60.6%) were labeled with MS. IR was present in 16 (48.4%). Fifteen (44%) patients had biopsy-proven NAFLD. Patients with MS were more likely to have NAFLD by biopsy (P=0.001). Children with NAFLD had significantly higher body mass index, waist circumference, ALT, total cholesterol, LDL-c, TG, fasting insulin, and lower HDL-c compared to patients with normal liver histology (P< 0.05) and fitted more with the criteria of MS (80% vs. 44%). IR was significantly more common among NAFLD patients (73% vs. 28%). There is a close association between obesity, MS, IR and NAFLD. Obese children with clinical or biochemical hepatic abnormalities are prone to suffer from MS, IR and NAFLD.

  14. Interventional therapeutic techniques in Budd-Chiari syndrome

    SciTech Connect

    Bilbao, Jose Ignacio; Pueyo, Jesus Ciro; Longo, Jesus Maria; Arias, Mercedes; Herrero, Jose Ignacio; Benito, Alberto; Barettino, Maria Dolores; Perotti, Juan Pablo; Pardo, Fernando

    1997-03-15

    Purpose. To analyze the results obtained with percutaneous therapeutic procedures in patients with Budd-Chiari syndrome (BCHS). Methods. Between August 1991 and April 1993, seven patients with BCHS were treated in our hospital. Three presented with a congenital web; in another three cases the hepatic veins and/or the inferior vena cava (IVC) were compromised after major hepatic surgery; one patient presented with a severe stenosis of the intrahepatic IVC due to hepatomegaly. Results. One of the patients with congenital web has required several new dilatations due to restenosis; one patient required a transjugular intrahepatic portosystemic shunt procedure while awaiting a liver transplantation. The two postsurgical patients with stenosed hepatic veins did not require any new procedure after the placement of metallic endoprostheses. However, the patient with liver transplantation presented IVC restenosis after balloon angioplasty that required the deployment of metallic endoprostheses. In the patient with hepatomegaly a self-expandable prosthesis was placed in the intrahepatic portion of the IVC before (4 months) a liver transplantation. Conclusion. Interventional therapeutic techniques offer a wide variety of possibilities for the treatment of patients with BCHS. For IVC stenoses, the results obtained with balloon angioplasty are at least as good as those obtained with surgery.

  15. Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency

    PubMed Central

    Santillán-Hernández, Yuritzi; Almanza-Miranda, Enory; Xin, Winnie W; Goss, Kendrick; Vera-Loaiza, Aurea; Gorráez-de la Mora, María T; Piña-Aguilar, Raul E

    2015-01-01

    Lysosomal acid lipase (LAL) deficiency is an under-recognized lysosomal disease caused by deficient enzymatic activity of LAL. In this report we describe two affected female Mexican siblings with early hepatic complications. At two months of age, the first sibling presented with alternating episodes of diarrhea and constipation, and later with hepatomegaly, elevated transaminases, high levels of total and low-density lipoprotein cholesterol, and low levels of high-density lipoprotein. Portal hypertension and grade 2 esophageal varices were detected at four years of age. The second sibling presented with hepatomegaly, elevated transaminases and mildly elevated low-density lipoprotein and low high-density lipoprotein at six months of age. LAL activity was deficient in both patients. Sequencing of LIPA revealed two previously unreported heterozygous mutations in exon 4: c.253C>A and c.294C>G. These cases highlight the clinical continuum between the so-called Wolman disease and cholesteryl ester storage disease, and underscore that LAL deficiency represents a single disease with a degree of clinical heterogeneity. PMID:25624737

  16. Stage IV-S neuroblastoma. Results with definitive therapy

    SciTech Connect

    Stokes, S.H.; Thomas, P.R.; Perez, C.A.; Vietti, T.J.

    1984-05-15

    The results of management of 14 patients with Stage IV-S neuroblastoma are reported. The treatment policy, although not consistent over this time span, in general used a combination of radiotherapy and chemotherapy or infrequently one modality alone. Twelve of 14 (86%) survived more than 6 years. One patient, with a solitary mediastinal primary tumor, died of rapidly progressive disease at three months. The other death occurred in a 4.5-year-old presenting with hepatomegaly at diagnosis followed by skeletal dissemination 2.5 years later. Thirteen of the patients were younger than 1 year of age. Of the 11 patients that received radiotherapy, 4 experienced mild asymptomatic scoliosis or kyphoscoliosis at 3 to 12 years after initial therapy. A review of the literature indicates that spontaneous regression in this tumor is very frequent; therefore, it is recommended that for the common presentation of massive hepatomegaly in an infant, close observation is warranted, unless life threatening complications occur. However, initial therapeutic intervention may be indicated in those patients with life threatening presentations. This data did not substantiate the necessity for complete surgical excision of the primary tumor, as has been suggested by others.

  17. Long-term bezafibrate treatment improves skin and spleen phenotypes of the mtDNA mutator mouse.

    PubMed

    Dillon, Lloye M; Hida, Aline; Garcia, Sofia; Prolla, Tomas A; Moraes, Carlos T

    2012-01-01

    Pharmacological agents, such as bezafibrate, that activate peroxisome proliferator-activated receptors (PPARs) and PPAR γ coactivator-1α (PGC-1α) pathways have been shown to improve mitochondrial function and energy metabolism. The mitochondrial DNA (mtDNA) mutator mouse is a mouse model of aging that harbors a proofreading-deficient mtDNA polymerase γ. These mice develop many features of premature aging including hair loss, anemia, osteoporosis, sarcopenia and decreased lifespan. They also have increased mtDNA mutations and marked mitochondrial dysfunction. We found that mutator mice treated with bezafibrate for 8-months had delayed hair loss and improved skin and spleen aging-like phenotypes. Although we observed an increase in markers of fatty acid oxidation in these tissues, we did not detect a generalized increase in mitochondrial markers. On the other hand, there were no improvements in muscle function or lifespan of the mutator mouse, which we attributed to the rodent-specific hepatomegaly associated with fibrate treatment. These results showed that despite its secondary effects in rodent's liver, bezafibrate was able to improve some of the aging phenotypes in the mutator mouse. Because the associated hepatomegaly is not observed in primates, long-term bezafibrate treatment in humans could have beneficial effects on tissues undergoing chronic bioenergetic-related degeneration.

  18. Successful Treatment of Suspected Pulmonary Arterial Hypertension in a Mealy Amazon Parrot (Amazona farinose).

    PubMed

    Brady, Sean M; Burgdorf-Moisuk, Anne; Silverman, Sarah; Wack, Raymund F

    2016-12-01

    A 25-year-old, male mealy Amazon parrot (Amazona farinose) with a history of polycythemia, hepatomegaly, and epistaxis was evaluated for progressive lethargy and anorexia. Clinical laboratory testing revealed severe polycythemia (71%), hypophosphatemia (1.6 mg/dL), and mild hypokalemia (2.8 mEq/L). Radiographs showed marked hepatomegaly and loss of air sac space. Despite supportive treatments, the bird's condition deteriorated, and it developed ataxia, was unable to fly, and became oxygen dependent. An echocardiogram, including an air bubble study, revealed a right-to-left atrial shunt and presumed pulmonary arterial hypertension. The bird was started on periodic phlebotomy (5-10 mL/kg q6wk) to reduce packed cell volume and sildenafil citrate (2.5 mg/kg PO q8h) for treatment of suspected pulmonary arterial hypertension. One week later, the patient was weaned off oxygen, and 24 days after initial presentation, the parrot was returned to its outdoor exhibit. Intermittent periods of increased respiratory rate and effort have been reported but have resolved without additional treatments. Epistaxis, once common in this bird, has not been noted since initiating treatment with sildenafil citrate 15 months ago.

  19. RNA-sequencing analysis reveals the hepatotoxic mechanism of perfluoroalkyl alternatives, HFPO2 and HFPO4, following exposure in mice.

    PubMed

    Wang, Jianshe; Wang, Xiaoyang; Sheng, Nan; Zhou, Xiujuan; Cui, Ruina; Zhang, Hongxia; Dai, Jiayin

    2017-04-01

    The toxicological impact of traditional perfluoroalkyl chemicals has led to the elimination and restriction of these substances. However, many novel perfluoroalkyl alternatives remain unregulated and little is known about their potential effects on environmental and human health. Daily administration of two alternative perfluoroalkyl substances, HFPO2 and HFPO4 (1 mg kg(-1) body weight), for 28 days resulted in hepatomegaly and hepatic histopathological injury in mice, particularly in the HFPO4 group. We generated and compared high-throughput RNA-sequencing data from hepatic tissues in control and treatment group mice to clarify the mechanism of HFPO2 and HFPO4 hepatotoxicity. We identified 146 (101 upregulated, 45 downregulated) and 1295 (716 upregulated, 579 downregulated) hepatic transcripts that exhibited statistically significant changes (fold change ≥2 or ≤0.5, false discovery rate < 0.05) after HFPO2 and HFPO4 treatment, respectively. Among them, 111 (82 upregulated, 29 downregulated) transcripts were changed in both groups, and lipid metabolism associated genes were dominant. Thus, similar to their popular predecessors, HFPO2 and HFPO4 exposure exerted hepatic effects, including hepatomegaly and injury, and altered lipid metabolism gene levels in the liver, though HFPO4 exerted greater hepatotoxicity than HFPO2. The unregulated use of these emerging perfluoroalkyl alternatives may affect environmental and human health, and their biological effects need further exploration. Copyright © 2016 John Wiley & Sons, Ltd. Copyright © 2016 John Wiley & Sons, Ltd.

  20. A comparative study of hepatitis caused by scrub typhus and viral hepatitis A in South Korea.

    PubMed

    Lee, Jun; Kim, Dong-Min; Yun, Na Ra; Byeon, Yu Mi; Kim, Young Dae; Park, Chan Guk; Kim, Man Woo; Han, Mi Ah

    2011-11-01

    We compared clinical features and laboratory findings of 104 patients with hepatitis A and 197 patients with scrub typhus. Nausea, vomiting, abdominal pain, hepatomegaly, and jaundice were common in patient with hepatitis A, and fever and headache were significantly more common in patients with scrub typhus. At presentation, an alanine aminotransferase (ALT) level ≥ 500 U/L was observed in 1% of scrub typhus patients and in 87.5% of hepatitis A patients (P < 0.001). A bilirubin level ≥ 1.3 mg/dL was observed in 16.8% of scrub typhus patients and 90.4% of hepatitis A patients. The ALT:lactate dehydrogenase ratio was ≤ 5 in 97.4% of the patients with scrub typhus and > 5 in 95.2% of those with hepatitis A (P < 0.001). Fever, headache, rash, and eschar are findings that indicate scrub typhus. An ALT level ≥ 500 U/L (adjusted odds ratio = 0.011) a bilirubin level ≥ 1.3 (adjusted odds ratio = 0.024), an ALT:lactate dehydrogenase ratio > 5, and hepatomegaly are indications of viral hepatitis A.

  1. The Association of Metabolic Syndrome, Insulin Resistance and Non-alcoholic Fatty Liver Disease in Overweight/Obese Children

    PubMed Central

    El-Koofy, Nehal M.; Anwar, Ghada M.; El-Raziky, Mona S.; El-Hennawy, Ahmad M.; El-Mougy, Fatma M.; El-Karaksy, Hanaa M.; Hassanin, Fetouh M.; Helmy, Heba M.

    2012-01-01

    Background/Aim: To study the prevalence of metabolic syndrome (MS), insulin resistance (IR) and non-alcoholic fatty liver disease (NAFLD) in overweight/obese children with clinical hepatomegaly and/or raised alanine aminotransferase (ALT). Patients and Methods: Thirty-three overweight and obese children, aged 2-13 years, presenting with hepatomegaly and/or raised ALT, were studied for the prevalence of MS, IR and NAFLD. Laboratory analysis included fasting blood glucose, serum insulin, serum triglycerides (TG), total cholesterol, high-density lipoprotein cholesterol (HDL-c), low-density lipoprotein cholesterol (LDL-c) and liver biochemical profile, in addition to liver ultrasound and liver biopsy. Results: Twenty patients (60.6%) were labeled with MS. IR was present in 16 (48.4%). Fifteen (44%) patients had biopsy-proven NAFLD. Patients with MS were more likely to have NAFLD by biopsy (P=0.001). Children with NAFLD had significantly higher body mass index, waist circumference, ALT, total cholesterol, LDL-c, TG, fasting insulin, and lower HDL-c compared to patients with normal liver histology (P< 0.05) and fitted more with the criteria of MS (80% vs. 44%). IR was significantly more common among NAFLD patients (73% vs. 28%). Conclusion: There is a close association between obesity, MS, IR and NAFLD. Obese children with clinical or biochemical hepatic abnormalities are prone to suffer from MS, IR and NAFLD. PMID:22249092

  2. Hepatic Involvement in Dengue Fever in Children

    PubMed Central

    Jagadishkumar, Kalenahalli; Jain, Puja; Manjunath, Vaddambal G.; Umesh, Lingappa

    2012-01-01

    Objective Hepatic dysfunction is common in dengue infection and the degree of liver dysfunction in children varies from mild injury with elevation of transaminases to severe injury with jaundice. This study was undertaken to assess the spectrum of hepatic involvement in dengue infection. Methods 110 children with serologically positive dengue fever aged between 2 months - 14 years were studied for their hepatic functions both clinically and biochemically after excluding malaria, enteric fever, Hepatitis A and Hepatitis B with relevant investigations. Findings All cases were grouped into DF (Dengue fever), DHF (Dengue hemorrhagic fever) and DSS (Dengue shock syndrome) according to WHO criteria. The spectrum of hepatic manifestations included hepatomegaly (79%), hepatic tenderness (56%), jaundice (4.5%), raised levels of aspartate transaminase (AST)(93%), alanine transaminase (ALT)(78%), alkaline phosphatase (AP) (57%), prolonged prothrombin time (PT) (20%), reduced levels of serum albumin (66%) and abnormal abdomen ultrasound (65%). Conclusion Hepatic dysfunction was observed more in DHF and DSS group compared to DF group. About 17.27% of children had >10 fold increase in the liver enzymes. There was no correlation between the degree of hepatic enlargement or hepatic tenderness with the abnormalities of liver functions. Any child with fever, jaundice and tender hepatomegaly in geographical areas where dengue is endemic, the diagnosis of dengue infection should be strongly considered. PMID:23056891

  3. Hepatic involvement in dengue Fever in children.

    PubMed

    Jagadishkumar, Kalenahalli; Jain, Puja; Manjunath, Vaddambal G; Umesh, Lingappa

    2012-06-01

    Hepatic dysfunction is common in dengue infection and the degree of liver dysfunction in children varies from mild injury with elevation of transaminases to severe injury with jaundice. This study was undertaken to assess the spectrum of hepatic involvement in dengue infection. 110 children with serologically positive dengue fever aged between 2 months - 14 years were studied for their hepatic functions both clinically and biochemically after excluding malaria, enteric fever, Hepatitis A and Hepatitis B with relevant investigations. All cases were grouped into DF (Dengue fever), DHF (Dengue hemorrhagic fever) and DSS (Dengue shock syndrome) according to WHO criteria. The spectrum of hepatic manifestations included hepatomegaly (79%), hepatic tenderness (56%), jaundice (4.5%), raised levels of aspartate transaminase (AST)(93%), alanine transaminase (ALT)(78%), alkaline phosphatase (AP) (57%), prolonged prothrombin time (PT) (20%), reduced levels of serum albumin (66%) and abnormal abdomen ultrasound (65%). Hepatic dysfunction was observed more in DHF and DSS group compared to DF group. About 17.27% of children had >10 fold increase in the liver enzymes. There was no correlation between the degree of hepatic enlargement or hepatic tenderness with the abnormalities of liver functions. Any child with fever, jaundice and tender hepatomegaly in geographical areas where dengue is endemic, the diagnosis of dengue infection should be strongly considered.

  4. Epstein-Barr virus-associated cholestatic hepatitis.

    PubMed

    Salva, Inês; Silva, Inês Vaz; Cunha, Florbela

    2013-12-16

    Epstein-Barr virus infection is common in children, usually presenting as infectious mononucleosis, including fever, tonsillitis and lymphadenopathy associated with self-resolving increase in transaminases. Cholestasis is rare in children with only a few cases reported but it was described in up to 55% of the adult population affected. We present a case of a 6-year-old boy with fever, vomiting and choluria. The physical examination showed hepatomegaly and jaundice and was otherwise unremarkable. The laboratory studies revealed increased transaminases (aspartate aminotransferase 97 U/L, alanine aminotransferase 166 U/L), hyperbilirubinaemia (total bilirubin 3.2 mg/dL, direct bilirubin 2.89 mg/dL) and increased γ-glutamyl transpeptidase (114 mg/dL). Urine urobilinogen was increased. The abdominal ultrasound showed hepatomegaly. Epstein-Barr viral capsid antibody IgM was positive and IgG was negative. Serological studies for other viruses were negative. We underline the need to consider Epstein-Barr virus in the cholestatic hepatitis differential diagnosis, in order to avoid unnecessary investigations.

  5. Differentiating biliary atresia from other causes of cholestatic jaundice.

    PubMed

    Robie, Daniel K; Overfelt, Sarah R; Xie, Li

    2014-09-01

    Diagnosis of biliary atresia (BA) in infants presenting with cholestatic jaundice (CJ) requires exploratory surgery with cholangiography. However, the lack of a standardized approach to preoperative evaluation of infants with CJ can lead to a high number of negative surgical explorations. We reviewed our experience with CJ and BA to determine preoperative variables that might reliably identify BA. Infants explored for possible BA over a 5-year period were retrospectively reviewed. Preoperative clinical indices and liver biopsy results were reviewed. Statistical analysis was conducted by Student's t test and Fisher's exact test (P < 0.05). Twenty patients were identified, 10 with BA and 10 without (50% negative exploration rate). Nuclear cholescintigraphy (HIDA) excretion into the gastrointestinal tract was absent in all BA and in 8 of 10 without BA. Hepatomegaly was more common in the BA group (OR = 9.3, P = 0.07). BA had higher mean (± standard error) serum gamma-glutamyl transpeptidase levels (542 ± 130 vs 139 ± 25.8 U/L in non-BA, P = 0.03). There were insignificant differences in sex, type of feeding, TPN exposure and sepsis between the two groups. Although our small sample size limits conclusions, we suggest screening infants with CJ by measuring GGT levels, absence of hepatomegaly, presence of cholic stools and/or excretion on HIDA scan to undergo pecutaneous liver biopsy given the lower likelihood of BA necessary.

  6. Role of laparoscopy in ureteropelvic junction obstruction with concomitant pathology: a case series study

    PubMed Central

    El-Fayoumi, Abdel-Rahman; Gakis, Georgios; Amend, Bastian; Khairul-Asri, Mohd Ghani; Stenzl, Arnulf; Schwentner, Christian

    2015-01-01

    Introduction Laparoscopic pyeloplasty is considered a standard treatment for ureteropelvic junction obstruction (UPJO). However, the presence of another pathology makes it a more challenging operation and guides the surgeon towards open conversion. In this study, we present our experience in difficult pyeloplasty cases managed by laparoscopy. Material and methods Six patients (4 females and 2 males) with an average age of 44 and a range of 27 to 60 years old, were diagnosed for UPJO. Three were on the left side and 3 on the right side. In addition to UPJO, 2 patients had renal stones, one patient had both renal ptosis and an umbilical hernia, 3 patients had a para-pelvic cyst, hepatomegaly and malrotated kidney, respectively. All patients had a preoperative ultrasound, CT or IVU, and a renal isotope scan. Laparoscopic pyeloplasty was performed according to the dismembered Anderson-Hynes technique with auxiliary maneuver, according to the pathology. Results All patients were treated successfully for UPJO and the concomitant pathologies, except hepatomegaly and malrotation. Mean operative time was 125 minutes and estimated blood loss was <50 ml. Conclusions Laparoscopic pyeloplasty can be performed in difficult situations provided that the surgeon has enough experience with laparoscopy. PMID:26855804

  7. [Severe hepatic veno-occlusive disease (VOD) which was successfully treated with supportive therapy, but subsequently developed late-recurrence].

    PubMed

    Matsuoka, S; Okamoto, S; Ishida, A; Wakui, M; Watanabe, R; Moriki, T; Ikeda, Y; Hirabayashi, N

    1998-02-01

    A 40-year-old man with chronic myelogenous leukemia in chronic phase received an allogeneic marrow graft from his HLA identical brother. He was conditioned with busulfan (16 mg/kg) and cyclophosphamide (120 mg/kg). Graft-versus-host disease (GVHD) prophylaxis was attempted with cyclosporine A (CYA) and methotrexate. On day 30, weight gain, ascites and hepatomegaly developed in addition to an elevation of total bilirubin (TB). He was diagnosed as having veno-occlusive disease (VOD) and treated conservatively. The TB level increased up to 20.1 mg/dl on day 66, then reduced to 2.1 mg/dl on day 129. By that time ascites and hepatomegaly also had completely resolved. However, on day 134. The TB level started to increase again, when the lesions of chronic GVHD were observed in the eye, the mouth, and the skin. CYA was started on day 142, and FK506 was substituted for CYA on day 161. Despite the improvement of oral and skin lesions, TB level continued to rise, and he died of respiratory failure due to ARDS on day 186. Autopsy revealed both acute and old hepatic VOD lesions, suggesting the occurrence of late-onset VOD which probably contributed to the liver dysfunction observed after clinical resolution of the first episode of VOD.

  8. Study of enzyme replacement therapy for Gaucher Disease: comparative analysis of clinical and laboratory parameters at diagnosis and after two, five and ten years of treatment

    PubMed Central

    Souza, Ana Maria Almeida; Muniz, Thiago Pimentel; Brito, Rafael Maciel

    2014-01-01

    Objective To evaluate the impact of enzyme replacement therapy for Gaucher Disease on clinical and laboratory parameters after two, five and ten years of treatment. Methods Data were collected from patient records and analyzed using BioEstat software (version 5.0). Student's t-test, Analysis of Variance (ANOVA), Wilcoxon test and Kruskal–Wallis test were used for statistical analysis. Hepatomegaly and splenomegaly were analyzed using the Kappa test. Results There was a significant increase in hemoglobin levels (p-value <0.01) and platelet counts (p-value = 0.01) within two years of therapy. At the same time, the frequencies of splenomegaly (p-value <0.01) and hepatomegaly (p-value <0.05) reduced. These results were similar at five and ten years of enzyme replacement therapy. Conclusions There are substantial and quick (within two years) laboratory and clinical responses to enzyme replacement therapy. These improvements continue as long as enzyme replacement therapy is administered every two weeks, as recommended by the literature. PMID:25305167

  9. Hepatic tuberculosis in absence of disseminated abdominal tuberculosis.

    PubMed

    Desai, Chirag S; Josh, Anand G; Abraham, Philip; Desai, Devendra C; Deshpande, Ramesh B; Bhaduri, Anita; Shah, Sudeep R

    2006-01-01

    Liver involvement in tuberculosis in absence of miliary tuberculosis is rare. This study was performed to analyse the spectrum and response to treatment of hepatic tuberculosis in the absence of miliary abdominal tuberculosis. Retrospective analysis of seven cases of hepatic tuberculosis without miliary abdominal tuberculosis who presented at the single tertiary referral center were analyzed. All patients presented with fever and hepatomegaly. Five of them had pain in upper abdomen and vomiting. HIV serology was positive in one patient. All patients had normocytic normochromic anaemia, raised erythrocyte sedimentation rate (Mean 65). Mild elevation of liver enzymes and low albumin (Mean 2.4 gm%) with reversal of albumin globulin ratio (Mean 0.6) were seen in all. Two had jaundice. Prothrombin time was normal in all and lactate dehydrogenase values were elevated in all (Mean 794 IU/L). On ultrasonography, 2 had multiple hypodense lesion, 1 had coarse echotexture of liver, 1 had hyperechoic pattern and 3 had just hepatomegaly. Complete resolution of liver lesions on treatment with 4-drug anti-tuberculosis drug chemotherapy was seen. In conclusion, liver tuberculosis has protean manifestations with nonspecific alteration of liver function tests and is best diagnosed on liver biopsy. Overall response to therapy is satisfactory.

  10. Autoimmune lymphoproliferative syndrome with neonatal onset.

    PubMed

    Naveed, Muhammad; Khamis Butt, Umar Bin; Mannan, Jovaria

    2014-05-01

    We describe 2 cases of autoimmune lymphoproliferative syndrome (ALPS), which is a rare disorder of auto-immunity, chronic persistent or recurrent lymphadenopathy, splenomegaly, hepatomegaly and hyper gamma globulinemia (1gG, 1gA). Both cases presented in neonatal period which is a rare age of presentation in this disease. A 20 days old female neonate presented with respiratory symptoms which rapidly progressed needing ventilatory support. There was hepatomegaly and no auscultatory findings in the chest. Serial CBCs (complete blood counts) showed persistent leucocytosis with predominant lymphocytosis. Her chest X-ray showed left sided consolidation which responded poorly to antibiotics. Her prompt clinical response to steroids raised the suspicion of autoimmunity and the diagnosis was established after a negative bone marrow examination for leukemia and a positive result for ALPS on flow cytometry. The second case presented with anemia, thrombocytopenia starting in neonatal period followed by persistent lymphadenopathy, hepatosplenomegaly and recurrent infections which responded poorly to antibiotics. Diagnosis was delayed due to low index of suspicion, and finally achieved with multiple radiological studies, histopathology and flow cytometry.

  11. Anti-fasciola IgG isotypes among patients with fascioliasis before and after treatment.

    PubMed

    Hassan, M M; Mostafa, N E; Ramadan, M; Nassar, A; Hassounah, O; Omar, O

    2000-08-01

    Stool examination using modified Kato thick smear method was performed to detect Fasciola eggs and other parasites. Abdominal pain was the major presenting symptom (83.3%) followed by pallor (71.6%) and fever (16.7%). Anaemia and hepatomegaly were recorded in 70% of patients compared to 25% with splenomegaly. Abdominal ultrasonography revealed hepatomegaly and common bile duct dilatation in 70% of patients. Moreover, 6 cases showed Olympic game rings which is diagnostic. All of patients had positive IgG4 levels, 58 cases were found positive for specific total IgG and IgG1, whereas, only 36 cases had positive IgG2 levels (60%). All negative control group showed no cross reactions. On the other hand, ELISA detecting IgG4 showed the highest specificity (95%), followed by IgG2 (85%) and the least specific test was obtained with detection of IgG (70%) and IgG1 (65%). One week after treatment, 90% of patients were completely cured. One and 3 months after treatment, the cure rate was 83.3%. In completely cured patients, none of anti-Fasciola isotypes was significantly changed.

  12. [Marked hemosiderosis in myelodysplastic syndrome].

    PubMed

    Klinz, C

    1999-01-29

    A 68-year-old man was admitted because of symptoms of lumbar pain. He was known to have chronic anemia with ring sideroblasts and diabetes melitus and to be in heart failure. Three months before he had been given 7 units of red cell concentrate. On admission the outstanding features were brown discoloration of the skin, absent body hair, tachycardia, hepatomegaly and small testicles. He had a normocytic anemia, hyperglycemia and raised transaminases, hypogonadism and vitamin D3 deficiency. The serum levels of iron, transferrin saturation and feritin were markedly elevated. Liver iron content/g dried liver was 4.2 g (by biomagnetometer). Radiology of the lumbar vertebrae showed osteoporosis and sonography confirmed hepatomegaly. The known myelodysplastic syndrome (MDS) had fed to secondary hemosiderosis with heart failure, liver involvement, diabetes mellitus, hypogonadism and osteoporosis. Symptomatic treatment was unsuccessfully complemented by desferoxamine (up to 4 g/12 h) to release iron. But very good iron excretion was then achieved with deferiprone (3 x 1 g/d). The patient later died of the sequelae of hemosiderosis. Even when they have not required transfusions, patients with long-standing MDS should be examined regularly for the possible development of secondary hemosiderosis so that iron-chelating agents can be administered as needed.

  13. [Two siblings of Leber's congenital amaurosis with an increase in very long chain fatty acid in blood: relationship between peroxisomal disorders and Leber's congenital amaurosis].

    PubMed

    Haginoya, K; Aikawa, J; Noro, T; Watanabe, M; Iinuma, K; Narisawa, K; Tada, K

    1989-07-01

    We reported two siblings of Leber's congenital amaurosis associated with increased level of very long chain fatty acid (VLCFA) in blood. Case 1, a 3 1/2-year-old boy had congenital blindness, severe psychomotor retardation, hepatomegaly, profound hypotonia, loss of deep tendon reflexes, muscular atrophy and weakness, and non-convulsive status epilepticus characterized by a sudden respiratory failure, and also showed a flat electroretinogram, non-pigmentary retinal degeneration, severe atrophy of the brain stem and cerebellum, hepatic fibrosis, decreased motor and sensory conduction velocities and atlanto-axial instability. Sural nerve biopsy revealed severely decreased number of total myelinated fibers without remarkable demyelination or remyelination. Case 2, an elder sister of case 1, with pigmentary retinal degeneration, hepatomegaly and pericarditis had died at 3 months. Autopsy revealed hypomyelination and heterotopy of the cerebral white matter, hepatic fibrosis, renal microcysts and normal adrenal cytoarchitecture. In case 1, the level of VLCFA was increased twofold and sevenfold of controls in serum and in red cell membrane, respectively. Phytanic or trihydroxycholestanoic acid was not detected in the serum and bile. Normal shaped peroxisomes were definitely recognized in biopsied liver by means of electronmicroscopic histochemistry. From the above findings, these patients was thought to be a new variant of peroxisomal disorders relating to degradation of VLCFA, other than Zellweger syndrome, infantile Refsum disease and infantile adrenoleukodystrophy. It was concluded that peroxisomal functions should be studied in cases of Leber's congenital amaurosis.

  14. A Comparative Study of Hepatitis Caused by Scrub Typhus and Viral Hepatitis A in South Korea

    PubMed Central

    Lee, Jun; Kim, Dong-Min; Yun, Na Ra; Byeon, Yu Mi; Kim, Young Dae; Park, Chan Guk; Kim, Man Woo; Han, Mi Ah

    2011-01-01

    We compared clinical features and laboratory findings of 104 patients with hepatitis A and 197 patients with scrub typhus. Nausea, vomiting, abdominal pain, hepatomegaly, and jaundice were common in patient with hepatitis A, and fever and headache were significantly more common in patients with scrub typhus. At presentation, an alanine aminotransferase (ALT) level ≥ 500 U/L was observed in 1% of scrub typhus patients and in 87.5% of hepatitis A patients (P < 0.001). A bilirubin level ≥ 1.3 mg/dL was observed in 16.8% of scrub typhus patients and 90.4% of hepatitis A patients. The ALT:lactate dehydrogenase ratio was ≤ 5 in 97.4% of the patients with scrub typhus and > 5 in 95.2% of those with hepatitis A (P < 0.001). Fever, headache, rash, and eschar are findings that indicate scrub typhus. An ALT level ≥ 500 U/L (adjusted odds ratio = 0.011) a bilirubin level ≥ 1.3 (adjusted odds ratio = 0.024), an ALT:lactate dehydrogenase ratio > 5, and hepatomegaly are indications of viral hepatitis A. PMID:22049041

  15. Isolated tubercular hepatic abscess with diffuse pattern mimicking hepatocellular carcinoma in HIV positive patient: a case report.

    PubMed

    Setime, Mpho; Rwegerera, Godfrey M; Chowdhury, Wahhab

    2014-10-01

    Isolated hepatic tuberculosis presenting as a mass either with or without fever can be confused with hepatocellular carcinoma. Clinical examination and laboratory investigations are not specific. Radiological investigations such as ultrasound and computed tomography cannot confirm the diagnosis; hence it is vital to always make an effort to demonstrate presence of acid fast bacilli in aspirated pus or necrotic material from a liver mass. We present a case of 50 years old male patient with HIV/AIDS who presented with non-specific symptoms without fever, clinically with hepatomegaly mimicking hepatocellular carcinoma with metastasis. Abdominal ultrasound revealed a mass in the left liver lobe, with diffuse involvement in the right liver lobe. Liver mass histology showed granulomatous pattern with epitheloid cell aggregation. Aspirated blood from fine-needle guided biopsy stained on Ziehl Neelsen for acid fast bacilli turned out positive. Clinical examination did not reveal lymphadenopathy, abdominal ultrasound also ruled out para-aortic lymphadenopathy, and chest x-ray was essentially normal. Evaluation of the patient six months after completing quadruple treatment for tuberculosis showed marked clinical improvement. The objective of this case report is to highlight the importance of considering hepatic tuberculosis as a differential diagnosis in cases of hepatomegaly and initiate appropriate investigations to rule out a possibility of Tuberculosis which is potentially treatable with early diagnosis.

  16. Glycogen storage diseases: New perspectives

    PubMed Central

    Özen, Hasan

    2007-01-01

    Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism. Different hormones, including insulin, glucagon, and cortisol regulate the relationship of glycolysis, gluconeogenesis and glycogen synthesis. The overall GSD incidence is estimated 1 case per 20000-43000 live births. There are over 12 types and they are classified based on the enzyme deficiency and the affected tissue. Disorders of glycogen degradation may affect primarily the liver, the muscle, or both. Type Ia involves the liver, kidney and intestine (and Ib also leukocytes), and the clinical manifestations are hepatomegaly, failure to thrive, hypoglycemia, hyperlactatemia, hyperuricemia and hyperlipidemia. Type IIIa involves both the liver and muscle, and IIIb solely the liver. The liver symptoms generally improve with age. Type IV usually presents in the first year of life, with hepatomegaly and growth retardation. The disease in general is progressive to cirrhosis. Type VI and IX are a heterogeneous group of diseases caused by a deficiency of the liver phosphorylase and phosphorylase kinase system. There is no hyperuricemia or hyperlactatemia. Type XI is characterized by hepatic glycogenosis and renal Fanconi syndrome. Type II is a prototype of inborn lysosomal storage diseases and involves many organs but primarily the muscle. Types V and VII involve only the muscle. PMID:17552001

  17. Protective effect of Trillium tschonoskii saponin on CCl4-induced acute liver injury of rats through apoptosis inhibition.

    PubMed

    Wu, Hao; Qiu, Yong; Shu, Ziyang; Zhang, Xu; Li, Renpeng; Liu, Su; Chen, Longquan; Liu, Hong; Chen, Ning

    2016-12-01

    To explore hepatoprotective role and underlying mechanisms of Trillium tschonoskii Maxim (TTM), 36 rats were randomly divided into control, CCl4-induced liver injury model, and biphenyl dimethyl dicarboxylate (DDB) and low-, moderate-, and high-dose TTM treatment groups. After CCl4-induced model establishment, the rats from DDB and TTM groups were administrated with DDB at 0.2 g/kg per day and TTM at 0.1, 0.5, and 1.0 g/kg per day, while the rats from control and model groups were administrated with saline. After 5 days of treatments, all rats were sacrificed for determining serum ALT and AST levels and liver index, examining histopathological changes in liver through HE and TUNEL staining, and evaluating TNF-α and IL-6 mRNA expression by real-time PCR, and caspase-3, Bcl-2, and Bax expression by Western blot. Results indicated that CCl4 could induce acute liver injury and abnormal liver function in rats with obvious hepatomegaly, increased liver index, high ALT and AST levels, up-regulated TNF-α and IL-6, and overexpressed Bax and caspase-3. However, DDB and TTM could execute protective role in CCl4-induced liver injury in rats through reducing ALT and AST levels, rescuing hepatomegaly, down-regulating inflammatory factors and inhibiting hepatocyte apoptosis in a dose-dependent manner. Therefore, TTM has obvious protective role in CCl4-induced liver injury of rats through inhibiting hepatocyte apoptosis.

  18. Diagnosis of hepatic glycogenosis in poorly controlled type 1 diabetes mellitus.

    PubMed

    Giordano, Stefania; Martocchia, Antonio; Toussan, Lavinia; Stefanelli, Manuela; Pastore, Francesca; Devito, Antonio; Risicato, Marcello G; Ruco, Luigi; Falaschi, Paolo

    2014-12-15

    Hepatic glycogenosis (HG) in type 1 diabetes is a underrecognized complication. Mauriac firstly described the syndrome characterized by hepatomegaly with altered liver enzymes, growth impairment, delay puberty and Cushingoid features, during childhood. HG in adulthood is characterized by the liver disorder (with circulating aminotransferase increase) in the presence of poor glycemic control (elevation of glycated hemoglobin, HbA1c levels). The advances in the comprehension of the metabolic pathways driving to the hepatic glycogen deposition point out the role of glucose transporters and insulin mediated activations of glucokinase and glycogen synthase, with inhibition of glucose-6-phosphatase. The differential diagnosis of HG consists in the exclusion of causes of liver damage (infectious, metabolic, obstructive and autoimmune disease). The imaging study (ultrasonography and/or radiological examinations) gives information about the liver alterations (hepatomegaly), but the diagnosis needs to be confirmed by the liver biopsy. The main treatment of HG is the amelioration of glycemic control that is usually accompanied by the reversal of the liver disorder. In selected cases, more aggressive treatment options (transplantation) have been successfully reported.

  19. A post-developmental genetic screen for zebrafish models of inherited liver disease.

    PubMed

    Kim, Seok-Hyung; Wu, Shu-Yu; Baek, Jeong-In; Choi, Soo Young; Su, Yanhui; Flynn, Charles R; Gamse, Joshua T; Ess, Kevin C; Hardiman, Gary; Lipschutz, Joshua H; Abumrad, Naji N; Rockey, Don C

    2015-01-01

    Nonalcoholic fatty liver disease (NAFLD) is one of the most common causes of chronic liver disease such as simple steatosis, nonalcoholic steatohepatitis (NASH), cirrhosis and fibrosis. However, the molecular pathogenesis and genetic variations causing NAFLD are poorly understood. The high prevalence and incidence of NAFLD suggests that genetic variations on a large number of genes might be involved in NAFLD. To identify genetic variants causing inherited liver disease, we used zebrafish as a model system for a large-scale mutant screen, and adopted a whole genome sequencing approach for rapid identification of mutated genes found in our screen. Here, we report on a forward genetic screen of ENU mutagenized zebrafish. From 250 F2 lines of ENU mutagenized zebrafish during post-developmental stages (5 to 8 days post fertilization), we identified 19 unique mutant zebrafish lines displaying visual evidence of hepatomegaly and/or steatosis with no developmental defects. Histological analysis of mutants revealed several specific phenotypes, including common steatosis, micro/macrovesicular steatosis, hepatomegaly, ballooning, and acute hepatocellular necrosis. This work has identified multiple post-developmental mutants and establishes zebrafish as a novel animal model for post-developmental inherited liver disease.

  20. Primitive neuroectodermal tumor of the liver: a case report.

    PubMed

    Mani, Siddhartha; Dutta, Deep; De, Binay K

    2010-03-01

    Ewing sarcoma/primitive neuroectodermal tumor is a rare tumor of soft tissues of thoraco-pulmonary regions, pelvis and lower extremities. Involvement of visceral organs by primitive neuroectodermal tumor is even rarer, with the kidney being the most commonly involved organ. Involvement of the liver has been reported in the form of metastasis from other primary sources presenting as liver abscess. We report a 20-year-old lady presenting with massive hepatomegaly, with computed tomography scan evidence of diffuse hepatomegaly and a normal porta and intrahepatic biliary radicles. She subsequently underwent ultrasonography-guided true-cut needle biopsy of the liver. Histopathology of the liver revealed nests of small round blue tumor cells in the background of hepatocytes infiltrating the liver, which expressed Mic-2 and Fli-1, and were negative for cytokeratin, desmin, hepatocyte-specific antigen (OCHIE5), synaptophysin, chromogranin A and CD-20. Immunohistochemistry revealed CD-99-positive. Extensive search regarding any possible different site of involvement by the tumor was negative. The patient responded to a combination therapy of vincristine, adriamycin and cyclophosphamide alternating with ifosfamide and etoposide 3 weekly over 43 weeks and has been doing well even after 1 year of diagnosis. The clinical presentation, the macroscopic aspect, together with the histological pattern, the cytological characteristic and the cellular immunophenotype lead to the diagnosis of primary primitive neuroectodermal tumor of the liver which responded well to combination chemotherapy.

  1. A novel homozygous no-stop mutation in G6PC gene from a Chinese patient with glycogen storage disease type Ia.

    PubMed

    Gu, Lei-Lei; Li, Xin-Hua; Han, Yue; Zhang, Dong-Hua; Gong, Qi-Ming; Zhang, Xin-Xin

    2014-02-25

    Glycogen storage disease type Ia (GSD-Ia) is an autosomal recessive genetic disorder resulting in hypoglycemia, hepatomegaly and growth retardation. It is caused by mutations in the G6PC gene encoding Glucose-6-phosphatase. To date, over 80 mutations have been identified in the G6PC gene. Here we reported a novel mutation found in a Chinese patient with abnormal transaminases, hypoglycemia, hepatomegaly and short stature. Direct sequencing of the coding region and splicing-sites in the G6PC gene revealed a novel no-stop mutation, p.*358Yext*43, leading to a 43 amino-acid extension of G6Pase. The expression level of mutant G6Pase transcripts was only 7.8% relative to wild-type transcripts. This mutation was not found in 120 chromosomes from 60 unrelated healthy control subjects using direct sequencing, and was further confirmed by digestion with Rsa I restriction endonuclease. In conclusion, we revealed a novel no-stop mutation in this study which expands the spectrum of mutations in the G6PC gene. The molecular genetic analysis was indispensable to the diagnosis of GSD-Ia for the patient.

  2. Anti-diabetic effect of amorphastilbol through PPARα/γ dual activation in db/db mice

    SciTech Connect

    Lee, Woojung; Ham, Jungyeob; Kwon, Hak Cheol; Kim, Yong Kee; Kim, Su-Nam

    2013-03-01

    Highlights: ► Amorphastilbol stimulates the transcriptional activities of both PPARα and PPARγ. ► Amorphastilbol improves glucose and lipid impairment in db/db mice. ► There are no side effects, such as hepatomegaly, in amorphastilbol-treated mice. ► Amorphastilbol can be used as a potential therapeutic agent against T2DM. - Abstract: Peroxisome proliferator-activated receptors (PPARs) have been considered as desirable targets for metabolic syndrome treatments, even though their specific agonists have several side effects, including body weight gain, edema, and tissue failure. The effects of amorphastilbol (APH) on glucose- and lipid metabolism were investigated with in vitro 3T3-L1 adipocyte systems and in vivo db/db mice model. APH selectively stimulates the transcriptional activities of both PPARα and PPARγ, which are able to enhance fatty acid oxidation and glucose utilization. Furthermore, APH improves glucose and lipid impairment in db/db mice. More importantly, there are no significant side effects, such as weight gain or hepatomegaly, in APH-treated animals, implying that APH do not adversely affect liver or lipid metabolism. All our data suggest that APH can be used as potential therapeutic agents against type 2 diabetes and related metabolic disorders, including obesity, by enhancing glucose and lipid metabolism.

  3. Immunotoxicity of 2,3,7,8-tetrachlorodibenzo-p-dioxin in a complex environmental mixture from the Love Canal.

    PubMed

    Silkworth, J B; Cutler, D S; Sack, G

    1989-02-01

    The organic phase of the leachate (OPL) from the Love Canal chemical dump site contains more than 100 organic compounds including 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD). The immunotoxic potential of OPL was determined in two mouse strains which differ in their sensitivity to aromatic hydrocarbon (Ah) receptor-mediated toxicity. OPL was administered in corn oil in a single oral gavage to male BALB/cByJ (Ahb/Ahb) mice (0.5, 0.8, or 1.1 g/kg) and DBA/2J (Ahd/Ahd) mice (0.6, 0.9, or 1.3 g/kg). TCDD was similarly administered at 0.25, 1.0, 4.0, or 16.0 micrograms/kg. Two days later all mice were immunized with sheep erythrocytes (SRBC). The antibody response (PFC) and organ weights were evaluated 4 days later. OPL produced thymic atrophy and hepatomegaly in both strains at all dose levels. The PFC/spleen in BALB/cByJ mice was significantly reduced at the three doses to 34, 13, and 15%, respectively, of the control response. Serum anti-SRBC antibody levels and relative spleen weights were also reduced. The only immune effect in the DBA/2J mice was a decrease of the PFC/spleen to 58% of the control at the highest dose. TCDD decreased the relative thymus and spleen weights only in BALB/cByJ mice. However, TCDD produced hepatomegaly, a decrease in serum antibody, and a decrease in PFC/spleen in both BALB/cByJ and DBA/2J mice to 3 and 15%, respectively, at 16 micrograms/kg. Thus, the TCDD dose required to cause a 50% suppression (ED50) of PFC/spleen for the BALB/cByJ and DBA/2J strains was 1.84 and 3.89 micrograms/kg, respectively. The ED50 for OPL was 0.24 g/kg in BALB/cByJ mice. The TCDD concentration in the OPL was estimated to be 7.6 ppm, which agrees closely with the chemical analysis (3 ppm). The results suggest that the immunosuppression caused by OPL in BALB/cByJ mice was primarily due to TCDD, that the non-TCDD components of OPL diminished the TCDD immunotoxicity in the DBA/2J strain, and that the thymic atrophy and hepatomegaly were caused primarily by the non

  4. Veno-occlusive disease (VOD) of the liver in Korean patients following allogeneic bone marrow transplantation (BMT): efficacy of recombinant human tissue plasminogen activator (rt-PA) treatment.

    PubMed

    Lee, J H; Lee, K H; Choi, J S; Zang, D Y; Kim, S B; Kim, S W; Suh, C; Lee, J S; Kim, W K; Lee, Y S; Kim, S H

    1996-04-01

    Veno-occlusive disease (VOD) of the liver is a clinical syndrome characterized by hyperbilirubinemia, painful hepatomegaly, and fluid retention. In the bone marrow transplantation (BMT) setting, VOD is caused by dose-intensive chemotherapy and/or radiotherapy used to prepare patients for transplant. VOD occurs in up to 50% of the patients who undergo BMT and is usually associated with a high mortality rate. Until recently, there was no proven effective medical therapy for this condition once it was clinically apparent. We report here on the frequency and treatment result of VOD with rt-PA in our allogeneic BMT patients. Eight patients (median age 28.5 years) underwent allogeneic BMT from December, 1993 to June, 1995 in Asan Medical Center. Six leukemia patients were prepared for BMT with busulfan and cyclophosphmide, while two aplastic anemia patients received cyclophosphamide and antithymocyte globulin. VOD was defined as having two of the following features before day 20 posttransplant: jaundice (bilirubin > or = 2 mg/dL), tender hepatomegaly and/or right upper quadrant pain, ascites and/or unexplained weight gain (> 2% from baseline). All patients who were diagnosed with VOD received rt-PA (10-20 mg/day) and heparin (10,000 U/day). Three (37.5%) of the eight patients developed VOD that occurred between 6 and 10 days posttransplant. All three patients developed jaundice, weight gain, and tender hepatomegaly. Ascites and renal insufficiency occurred in two patients and pleural effusion in one patient. rt-PA and heparin were begun 6 to 26 days posttransplant and rt-PA was administered for 7 to 14 days. All three patients responded to the therapy; bilirubin levels began to decrease at 4 to 13 days from the start of therapy. They are all alive at day 111, 316, and 548 days posttransplant. None of the patients had significant hemorrhagic complications after rt-PA treatment. Prolonged administration of rt-PA was feasible without bleeding episode and it seems that rt

  5. Senile cardiac amyloidosis: an underappreciated cause of heart failure

    PubMed Central

    Shah, Shreena; Dungu, Jason; Dubrey, Simon William

    2013-01-01

    This case presents a patient with biopsy-proven, wild-type transthyretin (TTR) senile amyloidosis. The case was that of a man in his early 70s who presented with gradually progressive symptoms and signs of heart failure. The recent history included an episode of severe pancreatitis secondary to cholelithiasis and subsequently (and incidentally) noted hepatomegaly and marked ascites. Further evaluation of the aetiology of the heart failure, through echocardiography, coronary angiography and endomyocardial biopsy, led to an exact diagnosis of SSA. The patient is being treated with conventional heart failure medications while consideration is given to the use of diflusinal as an antiamyloidogenic small molecular stabiliser of TTR. Monitoring and further management advice are being coordinated by the National Amyloidosis Centre. PMID:23391947

  6. High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia.

    PubMed

    Cherif, Wafa; Ben Rhouma, Faten; Messai, Habib; Mili, Amira; Gribaa, Moez; Kefi, Rym; Ayadi, Abdelkarim; Boughamoura, Lamia; Chemli, Jelel; Saad, Ali; Kaabachi, Naziha; Sfar, Mohamed Tahar; Ben Dridi, Marie-Françoise; Tebib, Neji; Abdelhak, Sonia

    2012-01-01

    Glycogen storage disease type III (GSD III) is an autosomal recessive disorder caused by the deficiency of glycogen debranching enzyme (AGL). It is characterized by hepatomegaly, progressive myopathy, cardiomyopathy and fasting hypoglycemia. Several mutations in AGL gene have been described in different populations. The W1327X mutation was reported in one Tunisian patient resident in Italy. We looked in this report to determine the frequency of W1327X mutation among Tunisian patients. The W1327X mutation was screening in 26 GSD III patients originated from various geographic locations in Tunisia. The sequence analysis revealed that among nine patients carried the W1327X mutation. Eight of them were from six unrelated families and they were originated from Mahdia (centre of Tunisia) suggesting the existence of a founder effect in this region. Taking into account historical migratory waves, screening for this mutation should be performed in priority for molecular diagnosis confirmation of GSD III in North African populations.

  7. [Cilioretinal artery occlusion in hemochromatosis].

    PubMed

    Peral, M J; Reche, A; Crespo, M J; Carpio, R; Gutierrez, O; Espino, A; Toledano, N

    2015-05-01

    We report a case of a 31 year-old woman with a sudden visual loss due to a cilioretinal artery occlusion. The physical examinination showed hepatomegaly. Serum iron and ferritin and transferrin saturation were unusually high. The doppler scan of carotid arteries showed no relevant signs of atheromatous disease. Dilated cardiomiopaty was revealed in the B-scan with subendocardial calcium deposits. Genetic tests were positive for hemochromatosis. Subendocardial calcification due to hemochromatosis could be the embolic source in our patient. This embolic ocular disease is the first presentation of hemochromatosis in this patient. Copyright © 2012 Sociedad Española de Oftalmología. Published by Elsevier España, S.L.U. All rights reserved.

  8. Genetic and pharmacological disruption of the TEAD–YAP complex suppresses the oncogenic activity of YAP

    PubMed Central

    Liu-Chittenden, Yi; Huang, Bo; Shim, Joong Sup; Chen, Qian; Lee, Se-Jin; Anders, Robert A.; Liu, Jun O.; Pan, Duojia

    2012-01-01

    The Drosophila TEAD ortholog Scalloped is required for Yki-mediated overgrowth but is largely dispensable for normal tissue growth, suggesting that its mammalian counterpart may be exploited for selective inhibition of oncogenic growth driven by YAP hyperactivation. Here we test this hypothesis genetically and pharmacologically. We show that a dominant-negative TEAD molecule does not perturb normal liver growth but potently suppresses hepatomegaly/tumorigenesis resulting from YAP overexpression or Neurofibromin 2 (NF2)/Merlin inactivation. We further identify verteporfin as a small molecule that inhibits TEAD–YAP association and YAP-induced liver overgrowth. These findings provide proof of principle that inhibiting TEAD–YAP interactions is a pharmacologically viable strategy against the YAP oncoprotein. PMID:22677547

  9. Genetic and pharmacological disruption of the TEAD-YAP complex suppresses the oncogenic activity of YAP.

    PubMed

    Liu-Chittenden, Yi; Huang, Bo; Shim, Joong Sup; Chen, Qian; Lee, Se-Jin; Anders, Robert A; Liu, Jun O; Pan, Duojia

    2012-06-15

    The Drosophila TEAD ortholog Scalloped is required for Yki-mediated overgrowth but is largely dispensable for normal tissue growth, suggesting that its mammalian counterpart may be exploited for selective inhibition of oncogenic growth driven by YAP hyperactivation. Here we test this hypothesis genetically and pharmacologically. We show that a dominant-negative TEAD molecule does not perturb normal liver growth but potently suppresses hepatomegaly/tumorigenesis resulting from YAP overexpression or Neurofibromin 2 (NF2)/Merlin inactivation. We further identify verteporfin as a small molecule that inhibits TEAD-YAP association and YAP-induced liver overgrowth. These findings provide proof of principle that inhibiting TEAD-YAP interactions is a pharmacologically viable strategy against the YAP oncoprotein.

  10. Mechanisms underlying the hepatotoxic effects of ecstasy.

    PubMed

    Carvalho, Márcia; Pontes, Helena; Remião, Fernando; Bastos, Maria L; Carvalho, Félix

    2010-08-01

    3,4-Methylenedioxymethamphetamine (MDMA or ecstasy) is a worldwide illegally used amphetamine-derived designer drug known to be hepatotoxic to humans. Jaundice, hepatomegaly, centrilobular necrosis, hepatitis and fibrosis represent some of the adverse effects caused by MDMA in the liver. Although there is irrefutable evidence of MDMA-induced hepatocellular damage, the mechanisms responsible for that toxicity remain to be thoroughly clarified. One well thought-of mechanism imply MDMA metabolism in the liver into reactive metabolites as responsible for the MDMA-elicited hepatotoxicity. However, other factors, including MDMA-induced hyperthermia, the increase in neurotransmitters efflux, the oxidation of biogenic amines, polydrug abuse pattern, and environmental features accompanying illicit MDMA use, may increase the risk for liver complications. Liver damage patterns of MDMA in animals and humans and current research on the mechanisms underlying the hepatotoxic effects of MDMA will be highlighted in this review.

  11. [Clinical features and symptomatic treatment of liver metastasis in the terminally ill patient].

    PubMed

    De Conno, F; Polastri, D

    1996-01-01

    The incidence of liver metastasis is quite frequent in patients with advanced cancer. Some patients are asintomatic, but more often a correlation can be present between the clinical observation and the anatomic and functional alteration of the liver provoked by metastasis. Hepatomegaly may cause pain, dyspnea, hiccup. Biliary obstruction generates jaundice and itching. Portal hypertension may cause ascitis, encephalopathy, varices of the esophagus. Hepatic failure may produce symptoms like sopor, dysrasic oedema, coagulation problems, jaundice. The treatment of the symptoms listed above is crucial for the quality of life of these patients, and must be the mainstay of the therapeutic approach. This paper describes the palliative treatment of the clinical complications related to liver metastasis.

  12. Valproic acid-associated vanishing bile duct syndrome.

    PubMed

    Gökçe, Selim; Durmaz, Ozlem; Celtik, Coskun; Aydogan, Aysen; Güllüoglu, Mine; Sökücü, Semra

    2010-07-01

    Hepatotoxicity as a result of valproic acid therapy is well documented. Elevation in aminotransferase activities is rarely associated with symptoms. It sometimes manifests as acute liver failure. Here, we report a 8-year-old girl who was referred for unresolving jaundice and itching for 3 months. Past history revealed afebrile convulsion 5 months previously and beginning of valproic acid treatment. Valproic acid was discontinued after the development of jaundice. Physical examination revealed ichterus, xanthomas on extensor surfaces of extremities, and hepatomegaly without any sign of chronic liver disease. Total and direct bilirubin levels were 20.2 and 12.9 mg/dL, respectively. Enzyme activities indicating cholestasis were increased together with blood cholesterol. Tests for infectious and autoimmune, metabolic, and genetic disorders were not informative. Liver biopsy revealed portal inflammation, severe bile duct loss, and cholestasis. The patient was considered to have valproic acid-associated vanishing bile duct syndrome, which has not been reported previously.

  13. Radiographic features of plasma cell leukemia in the maxilla: A case report

    PubMed Central

    Wong, Phillip; Kashtwari, Deeba

    2016-01-01

    Plasma cell leukemia (PCL) is an aggressive form of multiple myeloma where there is hematogenous spread of abnormal plasma cells into the periphery. This is opposed to multiple myeloma, where the abnormal plasma cells stay in the bone marrow. PCL is more common in males than females, and is also more common in African-Americans than Caucasians. Signs and symptoms of PCL include, but are not limited to, renal insufficiency, hypercalcemia, anemia, lytic bone lesions, thrombocytopenia, hepatomegaly, and splenomegaly. Here, we discussed a case of a 71-year-old Caucasian female recently diagnosed with primary PCL with radiographic features of this disease throughout the body, with an emphasis on the maxillofacial skeleton and relevance from a dental standpoint. PMID:28035306

  14. Focal Hepatic Glycogenosis in a Patient With Uncontrolled Diabetes Mellitus Type 1.

    PubMed

    Glushko, Tetiana; Kushchayev, Sergiy V; Trifanov, Dmitry; Salei, Aliaksei; Morales, Diego; Berry, Gerard; Mackey, Justin; Teytelboym, Oleg M

    2017-09-20

    Hepatomegaly and elevated liver enzymes in patients with diabetes are commonly associated with fatty liver disease. However, physicians often forget about another intrinsic substance that can cause a similar clinical picture-glycogen. Liver stores approximately one third of the total body glycogen and is responsible for blood glucose homeostasis. Excessive hepatocellular glycogen accumulation occurs not only in congenital glycogen storage diseases, but also in acquired conditions associated with hyperglycemic-hyperinsulinemic states such as uncontrolled diabetes mellitus, high-dose corticosteroid use, and dumping syndrome. All reported cases of acquired abnormal glycogen deposition described a diffuse form of hepatic glycogenosis with the entire liver involved in the accumulating process. To our knowledge, this is the first reported case of abnormal focal glycogen deposition in a patient with diabetes mellitus type 1 with imaging and pathologic correlation. Awareness of the imaging appearance of focal glycogen deposition can help to distinguish it from other pathologic conditions.

  15. Hepatic toxocariasis: a rare cause of right upper abdominal pain in the emergency department.

    PubMed

    Coşkun, Figen; Akıncı, Emine

    2013-01-01

    Toxocara canis and Toxocara cati are common helminths that reside in the intestinal tract of cats and dogs. Toxocariasis and, commonly, T. canis, is a disease commonly seen in children, which is characterised by hypereosinophilia, hepatomegaly, fever, transient pulmonary infiltration, and hypergammaglobulinaemia. Humans, who are not the actual host for these parasitic worms, are infected following oral intake of the infective eggs. Radiological differentiation of hepatic toxocariasis can be difficult, as liver lesions, which present as multiple hypoechoic lesions with regular borders, can look like a tumour, an infarction or an infection. We report on a case that presented to our emergency department (ED) with abdominal pain. During the initial review, the pathology in the liver was thought to be an infarction or an infection; however, the patient was diagnosed with hepatic toxocariasis following further evaluation.

  16. Factors affecting Brucella spp. blood cultures positivity in children.

    PubMed

    Apa, Hurşit; Devrim, Ilker; Memur, Seyma; Günay, Ilker; Gülfidan, Gamze; Celegen, Mehmet; Bayram, Nuri; Karaarslan, Utku; Bağ, Ozlem; Işgüder, Rana; Oztürk, Aysel; Inan, Seyhan; Unal, Nurrettin

    2013-03-01

    Brucella infections have a wide spectrum of symptoms especially in children, making the diagnosis a complicated process. The gold standard for the final diagnosis for brucellosis is to identify the Brucella spp. isolated from blood or bone marrow cultures. The main purpose of this work was to evaluate the factors affecting the isolation of Brucella spp. from blood cultures. In our study, the ratio of fever, presence of hepatomegaly, and splenomegaly were found to be higher in the bacteremic group. In addition, C-reactive protein levels and liver function enzymes were found to be higher in the bacteremic group. In our opinion, while evaluating the febrile child with suspected Brucella infection, we highly recommend sampling blood cultures regardless of the history of previous antimicrobial therapy and duration of the symptoms.

  17. A preterm infant with secondary carnitine deficiency due to MCT formula--effective treatment of L-carnitine.

    PubMed

    Ishida, A; Goto, A; Takahashi, Y; Nakajima, W; Arai, H; Tazawa, Y; Takada, G

    1994-01-01

    We report a preterm infant who was prescribed an MCT formula and subsequently developed carnitine deficiency with liver dysfunction and an elevation of serum CK level. A male infant who had been born at 24 weeks' gestation with birth weight 799 g, was fed with an MCT formula containing 76.8% of all kinds of lipids, because of his steatorrhea after the 30th day. On the 100th day, he was noted hepatomegaly and elevation of serum levels of AST, ALT and CK. The needle biopsy of the liver indicated the existence of the liver damage. He showed low serum carnitine with high urinary loss of acylcarnitine and dicarboxylic aciduria. Administration of L-carnitine was an effective treatment. The carnitine deficiency might be exaggerated by an increased urinary loss of acylcarnitine. We should be cautious of the risk of carnitine deficiency in preterm infants during prolonged use of MCT formula.

  18. [Abdominal tomometry. Application to study of the liver. Experimental study, initial clinical results and perspectives in the exploration of tumour pathology (author's transl)].

    PubMed

    Lamarque, J L; Bruel, J M; Dondelinger, R; Sénac, J P; Rabischong, P; Bonnel, F; Laval-Jeantet, M; Laval-Jeantet, A M

    1977-04-01

    Over a period of two months, 120 patients were studied using an Acta-Scanner tomometer for various hepatic disorders. In parallel, comparative tomometric and pathological studies were carried out in cadavers and isolated livers. These made possible the recognition of normal structures in tomometry and the identification of certain hepatic images which might be potential sources of error. Serial axial transverse sections were used to reconstruct the volume of the liver in space, thus making in possible to eliminate certain forms of pseudo-tumoural hepatomegaly. Systematic densitometric analysis was made by radiological anatomical study and in hepatic pathology. This new type of analysis led to a quantified diagnosis of certain diffuse hepatic diseases and a histological approach to tumour lesions. Hepatography using liposoluble agents in very low dosage was used in hepatic tomometry after animal experimentation. The method, free of untoward effects, makes possible the diagnosis of hepato-splenic tumor lesions less than one centimetre in diameter.

  19. Acute onset and rapid progression of multiple organ failure in a young adult with undiagnosed disseminated colonic adenocarcinoma.

    PubMed

    Frestad, Daria; Perner, Anders; Pedersen, Ulf Gøttrup

    2014-09-24

    Colourectal cancer (CRC) is the fourth most common cause of death from cancer worldwide. While rates for CRC in adults age 50 and older have been declining, incidence rates in young adults, a population routinely not screened, has been increasing. We report a rare case of high-grade CRC in a previously healthy 27-year-old man, presented to us with symptoms of increasing abdominal pain and distension. Extensive diagnostic investigation revealed hepatomegaly with multiple processes, signs of vasculitis, extensive liver necrosis, enlarged retroperitoneal and mesenteric lymph nodes, splenomegaly, ascites and multiple vein thrombosis. The patient passed away shortly after admission due to treatment-resistant tumour lysis syndrome and multiple organ failure. Biopsy results revealed disseminated adenocarcinoma of the colon, with metastases to lymph nodes, liver, lungs and pleura. CRC in younger patients tend to present at a later stage and appears to be more aggressive, with a poorer pathological differentiation. 2014 BMJ Publishing Group Ltd.

  20. Haemoglobin Lepore in a Malay family: a case report.

    PubMed

    Pasangna, Josephine; George, Elizabeth; Nagaratnam, Menaka

    2005-06-01

    A 2-year-old Malay boy was brought to the University Malaya Medical Centre for thalassaemia screening. Physical examination revealed thalassaemia facies, pallor, mild jaundice, hepatomegaly and splenomegaly. Laboratory investigations on the patient including studies on the parents lead to a presumptive diagnosis of homozygous Haemoglobin Lepore (Hb Lepore). The aim of this paper is to increase awareness of this rare disorder, this being the first case documented in Malaysia in a Malay. The case also demonstrates the need for this disorder to be included in the differential diagnosis of patients presenting clinically like thalassemia intermedia or thalassemia major. Accurate diagnosis would provide information necessary for prenatal diagnosis, proper clinical management and genetic counseling. The clinical, haematological and laboratory features of this disorder are discussed in this paper.

  1. Sphingomyelin lipidosis (Niemann-Pick disease) in a juvenile raccoon (Procyon lotor).

    PubMed

    Vapniarsky, N; Wenger, D A; Scheenstra, D; Mete, A

    2013-01-01

    A wild caught juvenile male raccoon with neurological disease was humanely destroyed due to poor prognosis. Necropsy examination revealed hepatomegaly, splenomegaly and multicentric lymphadenomegaly with diffuse hepatic pallor and pulmonary consolidation with pinpoint pale subpleural foci. Microscopically, there was marked pale cytoplasmic swelling of the central and peripheral neurons as well as the glial cells in the brain, accompanied by multiorgan infiltration by abundant foamy macrophages. Ultrastructural investigation revealed accumulation of concentrically arranged lamellar material within lysosomes of the affected neurons, macrophages and endothelial cells. Biochemical enzymatic analysis detected sphingomyelinase deficiency and lysosomal storage disease consistent with sphingomyelin lipidosis (Niemann-Pick disease [NPD]) was diagnosed. This is the first report of NPD in a raccoon.

  2. Anesthesia for gingivectomy and dental extractions in a child with I-cell disease--a case report.

    PubMed

    Mahfouz, Abdul Kader M; George, G

    2011-02-01

    I-cell disease (mucolipidosis II) is a rare metabolic disorder resulting from the deficiency of a specific lysosomal enzyme, N-acetylglucosamine-1-phosphotransferease. Developmental delay and growth failure are common presentations of I-cell disease. Psychomotor deterioration is rapid and progressive. Some physical signs, such as hip dislocations, inguinal hernia, hepatomegaly, joint limitation, and skin changes may be present at birth. Coarse facial features and skeletal abnormalities become more conspicuous with time. The life expectancy of children with this condition is poor, with death usually occurring around the fifth year. A case report of the anesthetic management of gingivectomy with multiple dental extractions in a 5 years old Omani female, with I-cell disease, is presented. The problems faced and their management during anesthesia are described.

  3. The pathology and pathogenicity of a novel Haemoproteus spp. infection in wild Little Penguins (Eudyptula minor).

    PubMed

    Cannell, B L; Krasnec, K V; Campbell, K; Jones, H I; Miller, R D; Stephens, N

    2013-10-18

    One hundred and thirty four Little Penguin (Eudyptula minor) carcases found since 2004 in south west Australia were necropsied. The livers and spleens from ten of the penguins exhibited varying degrees of multifocal, randomly scattered areas of necrosis and varying numbers of parasites were associated with these areas. Hepatomegaly and splenomegaly were noted in many of these ten cases. Necrosis and parasites were also observed in the cardiac muscle of four of the cases and in the lung tissue in one of the penguins. Using PCR, the parasites were positively identified in four of the cases as Haemoproteus spp. and morphologically identical tissue stage parasites associated with histopathological changes were observed in all ten dead penguins. This is the first study to demonstrate both the in situ presence of the Haemoproteus parasite in any member of the Sphensicidae family and mortality due to its presence. We postulate the involvement of anomalous environmental conditions in a potential increase in local vectors.

  4. Clinical manifestations of Eosinophilic meningitis due to infection with Angiostrongylus cantonensis in children.

    PubMed

    Sawanyawisuth, Kittisak; Chindaprasirt, Jarin; Senthong, Vichai; Limpawattana, Panita; Auvichayapat, Narong; Tassniyom, Sompon; Chotmongkol, Verajit; Maleewong, Wanchai; Intapan, Pewpan M

    2013-12-01

    Eosinophilic meningitis, caused by the nematode Angiostrongylus cantonensis, is prevalent in northeastern Thailand, most commonly in adults. Data regarding clinical manifestations of this condition in children is limited and may be different those in adults. A chart review was done on 19 eosinophilic meningitis patients aged less than 15 years in Srinagarind Hospital, Faculty of Medicine, Khon Kaen University, Thailand. Clinical manifestations and outcomes were reported using descriptive statistics. All patients had presented with severe headache. Most patients were males, had fever, nausea or vomiting, stiffness of the neck, and a history of snail ingestion. Six patients had papilledema or cranial nerve palsies. It was shown that the clinical manifestations of eosinophilic meningitis due to A. cantonensis in children are different from those in adult patients. Fever, nausea, vomiting, hepatomegaly, neck stiffness, and cranial nerve palsies were all more common in children than in adults.

  5. Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevation in serum.

    PubMed

    Ferreira, Carlos R; Devaney, Joseph M; Hofherr, Sean E; Pollard, Laura M; Cusmano-Ozog, Kristina

    2017-02-01

    We describe a patient with failure to thrive, hepatomegaly, liver dysfunction, and elevation of multiple plasma lysosomal enzyme activities mimicking mucolipidosis II or III, in whom a diagnosis of hereditary fructose intolerance (HFI) was ultimately obtained. She presented before introduction of solid foods, given her consumption of a fructose-containing infant formula. We present the most extensive panel of lysosomal enzyme activities reported to date in a patient with HFI, and propose that multiple enzyme elevations in plasma, especially when in conjunction with a normal plasma α-mannosidase activity, should elicit a differential diagnosis of HFI. We also performed a review of the literature on the different etiologies of elevated lysosomal enzyme activities in serum or plasma. © 2016 Wiley Periodicals, Inc.

  6. Probable epizootic chlamydiosis in wild California (Larus californicus) and ring-billed (Larus delawarensis) gulls in North Dakota

    USGS Publications Warehouse

    Franson, J.C.; Pearson, J.E.

    1995-01-01

    During the summer of 1986, more than 400 California gulls (Larus californicus) and ring-billed gulls (Larvus delawarensis), primarily fledglings, died on an island in Lake Sakakawea near New Town, North Dakota (USA). Mortality was attributed largely to chlamydiosis. Necropsy findings in nine carcasses included splenomegaly (n = 9), hepatomegaly (n = 4), and pericarditis (n = 1). Livers from three California gulls and two ring-billed gulls, and spleens from the same five birds plus a third ring-billed gull were positive for Chlamydia psittaci by the direct immunofluorescence test. Chlamydia psittaci was isolated from separate pools of liver and spleen from one California gull and one ring-billed gull. This is believed to be the first record of epizootic chlamydiosis in gulls and the second report of epizootic chlamydial mortality in wild birds in North America.

  7. [Malaria in Turkey and 14 years of clinical experience].

    PubMed

    Celikbaş, Aysel Kocagül; Ergönül, Onder; Baykam, Nurcan; Eren, Sebnem; Güven, Tümer; Dokuzoğuz, Başak

    2006-07-01

    In this retrospective study, the epidemiologic and clinical characteristics of 105 adult malaria patients, who had been hospitalized between the period of 1992 and 2006 were evaluated. Nineteen percent of the patients were female, and the mean age was 28 +/- 10 years. Fifty percent of the patients acquired the infection in Southeastern Anatolia, while they were on military duty. The most common complaints were rigor (93%), fever (90%), sweating (90%), headache (76%), nausea (45%), and fatigue (38%). The most common physical examination findings were splenomegaly (86%) and hepatomegaly (62%). Anemia was detected in 23%, leukopenia in 47%, thrombocytopenia in 73%, two fold increase in ALT or AST enzyme levels in 32% of the patients. Plasmodium vivax was detected in 101 (96%) patients, whereas P. falciparum was detected in 4 patients (4%). Although the number of malaria cases in Turkey is declining in recent years, the febrile patients with a history of travel to the endemic regions should raise the suspicion of malaria.

  8. Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity.

    PubMed

    Melis, Daniela; Della Casa, Roberto; Balivo, Francesca; Minopoli, Giorgia; Rossi, Alessandro; Salerno, Mariacarolina; Andria, Generoso; Parenti, Giancarlo

    2014-03-19

    Glycogen storage disease type 1b (GSD1b) is an inherited metabolic defect of glycogenolysis and gluconeogenesis due to mutations of the SLC37A4 gene and to defective transport of glucose-6-phosphate. The clinical presentation of GSD1b is characterized by hepatomegaly, failure to thrive, fasting hypoglycemia, and dyslipidemia. Patients affected by GSD1b also show neutropenia and/or neutrophil dysfunction that cause increased susceptibility to recurrent bacterial infections. GSD1b patients are also at risk for inflammatory bowel disease. Occasional reports suggesting an increased risk of autoimmune disorders in GSD1b patients, have been published. These complications affect the clinical outcome of the patients. Here we describe the occurrence of autoimmune endocrine disorders including thyroiditis and growth hormone deficiency, in a patient affected by GSD1b. This case further supports the association between GSD1b and autoimmune diseases.

  9. Imaging Features of Pediatric Pentastomiasis Infection: a Case Report

    PubMed Central

    Wang, Xi Qun; Lin, Long; Gao, De Chun; Zhang, Hong Xi; Zhang, Yi Ying; Zhou, Yin Bao

    2010-01-01

    We report here a case of pentastomiasis infection in a 3-year-old girl who had high fever, abdominal pain, abdominal tension and anemia. Ultrasound scanning of the abdomen revealed disseminated hyperechoic nodules in the liver and a small amount of ascites. Abdominal MRI showed marked hepatomegaly with disseminated miliary nodules of high signal intensity throughout the hepatic parenchyma on T2-weighted images; retroperitoneal lymphadenopathy and disseminated miliary nodules on the peritoneum were also noted. Chest CT showed scattered small hyperdense nodules on both sides of the lungs. The laparoscopy demonstrated diffuse white nodules on the liver surface and the peritoneum. After the small intestinal wall and peritoneal biopsy, histological examination revealed parenchymal tubercles containing several larvae of pentastomids and a large amount of inflammatory cell infiltration around them. The pathological diagnosis was parasitic granuloma from pentastomiasis infection. PMID:20592934

  10. Polyneuropathy, organomegaly, endocrinopathy, M-protein and skin changes (POEMS syndrome): a paraneoplastic syndrome

    PubMed Central

    Kumar, Sunil; Sharma, Shruti

    2015-01-01

    POEMS syndrome (Crow–Fukase syndrome) is a rare paraneoplastic disorder. It is characterized by peripheral neuropathy, elevated vascular endothelial growth factors (VEGFs), monoclonal gammopathy, sclerotic bone lesions and Castleman disease. Other important clinical features are organomegaly, edema, ascites, papilledema, endocrinopathy, skin changes and thrombocytosis. A high index of suspicion, a detailed clinical history and examination followed by appropriate laboratory investigations like VEGF level, radiological skeletal survey and bone marrow biopsy are required to diagnose POEMS syndrome. We report a case of POEMS syndrome who presented with insidious onset, progressive sensorimotor polyneuropathy, pedal edema, ascites, hepatomegaly, skin changes and hypothyroidism. X-ray of the pelvis showed osteosclerotic lesions. Immunoelectrophoresis using the immunofixation method revealed lambda chain monoclonal gammopathy. The patient was given radiotherapy, followed by a combination therapy of melphalan and dexamethasone. We emphasize the importance of recognizing a challenging diagnosis of a rare disease, which is shown to be treatment responsive. PMID:26634133

  11. High-output heart failure in a newborn.

    PubMed

    Mascarenhas, Maria Inês; Moniz, Marta; Ferreira, Sofia; Goulão, Augusto; Barroso, Rosalina

    2012-07-10

    High-output cardiac failure is rare in newborns. Emergent diagnosis and management of this pathology is crucial. We report the case of a child, currently 12-months old; obstetric background is non-contributory. Clinic observation on D1 was normal except for the presence of a systolic cardiac murmur; cardiological evaluation revealed mild ventricular dysfunction of the right ventricle. On the third day of life, she developed cardiac failure with gallop rhythm, hepatomegaly and a murmur in the anterior fontanel; an echocardiogram confirmed clinic aggravation with biventricular dysfunction and right cavities and superior vena cava dilatation. The cranial MRI confirmed the presence of a pial arteriovenous malformation (AVM) involving the anterior and middle cerebral arteries with an associated fronto-parietal ischaemic lesion. The infant underwent embolisations of AVM with successful flow reduction and cardiac failure improvement. The multidisciplinary follow-up showed no cardiac dysfunction or permanent lesions but confirmed a severe psycho-motor delay and left hemiparesia.

  12. A study of the toxicity of imidocarb dipropionate in cattle.

    PubMed

    Adams, L G; Corrier, D E; Williams, J D

    1980-03-01

    The toxic effects of imidocarb dipropionate (3,3'-bis[2-imidazolin-2-yl] carbanilide dipropionate) were studied in calves injected twice intramuscularly with 0, 5, 10 or 20 mg/kg dosages. Transient, dosage dependent signs of toxicosis consisted of excessive salivation, serous nasal discharge, diarrhoea and dyspnoea. Elevations in blood urea nitrogen concentrations and serum glutamic oxalacetic transaminase activities were related to dosage and markedly increased at the high dosage. Renal hyperaemia, hepatomegaly, pulmonary congestion and oedema, hydrothorax, hydroperitoneum, hydropericardium and mortality occurred at the 20 mg/kg dosage. Microscopic lesions observed at the high dosage included acute severe renal tubular necrosis and focal hepatocellular necrosis. Injection site reactions varied from microscopic areas of necrotising myositis at the 5 mg/kg dosage to focal grossly visible areas of necrosis, encapsulated by granulation tissue and surrounded by fascial oedema at the 20 mg/kg dosage.

  13. Neonatal Abdominal Hemangiomatosis: Propranolol beyond Infantile Hemangioma.

    PubMed

    Nip, Siu Ying Angel; Hon, Kam Lun; Leung, Wing Kwan Alex; Leung, Alexander K C; Choi, Paul C L

    2016-01-01

    Hemangioma is the most common vascular tumor of infancy; presentation is often as cutaneous infantile hemangioma (IH). Cutaneous hemangioma is a clinical diagnosis. Most IHs follow a benign course, with complete involution without treatment in the majority of cases. Visceral hemangioma often involves the liver and manifests as a life-threatening disorder. Hepatic hemangiomas may be associated with high output cardiac failure, coagulopathy, and hepatomegaly which generally develop between 1 and 16 weeks of age. Mortality has been reportedly high without treatment. We report a rare case of a male infant with neonatal hemangiomatosis with diffuse peritoneal involvement, which mimicked a malignant-looking tumor on imaging, and discuss therapeutic options and efficacy. Propranolol is efficacious for IH but generally not useful for other forms of vascular hemangiomas, tumors, and malformations. In our case of neonatal peritoneal hemangiomatosis, propranolol appears to have halted the growth and possibly expedite the involution of the hemangiomatosis without other treatments.

  14. Hepatic Primary and Secondary Cholesterol Deposition and Damage in Niemann-Pick Disease.

    PubMed

    Bosch, Marta; Fajardo, Alba; Alcalá-Vida, Rafael; Fernández-Vidal, Andrea; Tebar, Francesc; Enrich, Carlos; Cardellach, Francesc; Pérez-Navarro, Esther; Pol, Albert

    2016-03-01

    Niemann-Pick C disease is a neurovisceral disorder caused by mutations in the NPC gene that result in systemic accumulation of intracellular cholesterol. Although neurodegeneration defines the disease's severity, in most patients it is preceded by hepatic complications such as cholestatic jaundice or hepatomegaly. To analyze the contribution of the hepatic disease in Niemann-Pick C disease progression and to evaluate the degree of primary and secondary hepatic damage, we generated a transgenic mouse with liver-selective expression of NPC1 from embryonic stages. Hepatic NPC1 re-expression did not ameliorate the onset and progression of neurodegeneration of the NPC1-null animal. However, the mice showed reduced hepatomegalia and dramatic, although not complete, reduction of hepatic cholesterol and serum bile salts, bilirubin, and transaminase levels. Therefore, hepatic primary and secondary cholesterol deposition and damage occur simultaneously during Niemann-Pick C disease progression.

  15. Polysplenia syndrome with congenital agenesis of dorsal pancreas presenting as acute pancreatitis and the role of endoscopic ultrasonography in its diagnosis.

    PubMed

    Jeong, Jae Hoon; Kim, Gwang Ha; Song, Geun Am; Lee, Dong Gun; Moon, Ji Yoon; Cheong, Jae Hoon; Kim, Suk

    2012-07-01

    A 49-year-old female was admitted to our hospital for acute pancreatitis. The abdomen CT scan incidentally showed midline liver with hepatomegaly, centrally located gallbladder, pancreas truncation, right sided small bowel, left sided large bowel, interruption of the inferior vena cava with azygos continuation, preduodenal portal vein, and multiple spleens in the left upper quadrant. In MRCP, the head of pancreas was enlarged and short main pancreatic duct without accessory duct was showed. EUS revealed enlarged ventral pancreas with a main pancreatic duct of normal caliber, absence of the accessory pancreatic duct and the dorsal pancreas. She was diagnosed as polysplenia syndrome with agenesis of dorsal pancreas. It is a rare congenital anomaly frequently associated with various visceral anomalies including multiple spleens, impaired visceral lateralization, congenital heart diseases, gastrointestinal abnormalities and azygos continuation of the inferior vena cava. We report a case of polysplenia syndrome with agenesis of dorsal pancreas presenting acute pancreatitis.

  16. Upper gastrointestinal bleeding in a young patient with Budd Chiari syndrome due to a mutation of factor V Leiden: a case report.

    PubMed

    Dina, Ion; Iacobescu, Claudia; Goldis, Adrian

    2013-06-01

    Budd Chiari syndrome or hepatic venous outflow obstruction is a complex entity with multiple etiologies and various clinical manifestations. It is often difficult to establish the diagnosis. The most common cause is a hypercoagulable state due to either genetic disorders of blood coagulation or several acquired conditions such as hematological diseases, tumors, infections, chronic inflammatory diseases, pregnancy. The most common clinical presentation is hepatomegaly, abdominal pain and ascites, but the onset can also be dramatical and life threatening with upper digestive bleeding due to portal hypertension through postsinusoidal blockage. We report the case of a young patient with a coagulation disorder secondary to a mutation of factor V Leiden, who presented with upper digestive bleeding as the first manifestation of Budd Chiari syndrome and who also was associated with myocardial infarction in his past medical history.

  17. Columbid herpesvirus-1 in two Cooper's hawks (Accipiter cooperii) with fatal inclusion body disease.

    PubMed

    Pinkerton, Marie E; Wellehan, James F X; Johnson, April J; Childress, April L; Fitzgerald, Scott D; Kinsel, Michael J

    2008-07-01

    We report two separate naturally occurring cases of fatal herpesviral disease in Cooper's Hawks (Accipiter cooperii). Gross lesions included splenomegaly and hepatomegaly, with diffuse pale mottling or scattered small white foci. Histologic lesions included splenic and hepatic necrosis associated with eosinophilic intranuclear inclusion bodies characteristic of herpesvirus. In one case, necrosis and inclusions were also noted in bone marrow, thymus, bursa of Fabricius, thyroid gland, parathyroid gland, ceca, and the enteric system. Transmission electron microscopy demonstrated viral particles typical of herpesvirus within hepatocyte nuclei and budding from the nuclear membrane. Herpesviral DNA was amplified via polymerase chain reaction (PCR) of paraffin-embedded liver and spleen, and sequence data were consistent with columbid herpesvirus-1, an alphaherpesvirus of Rock Pigeons (Columba livia). PCR results provide evidence that this disease is transmitted to raptors via Rock Pigeons, most likely through ingestion of Rock Pigeons as prey.

  18. Typhoid fever: case report and literature review.

    PubMed

    Sanhueza Palma, Natalia Carolina; Farías Molina, Solange; Calzadilla Riveras, Jeannette; Hermoso, Amalia

    2016-06-21

    Typhoid fever remains a major health problem worldwide, in contrast to Chile, where this disease is an isolated finding. Clinical presentation is varied, mainly presenting with fever, malaise, abdominal discomfort, and nonspecific symptoms often confused with other causes of febrile syndrome. We report a six-year-old, male patient presenting with fever of two weeks associated with gastrointestinal symptoms, malaise, hepatomegaly and elevated liver enzymes. Differential diagnoses were considered and a Widal reaction and two blood cultures were requested; both came back positive, confirming the diagnosis of typhoid fever caused by Salmonella typhi. Prior to diagnosis confirmation, empirical treatment was initiated with ceftriaxone and metronidazole, with partial response; then drug therapy was adjusted according to ciprofloxacin susceptibility testing with a favorable clinical response. We discuss diagnostic methods and treatment of enteric fever with special emphasis on typhoid fever.

  19. New focus of active transmission of Chagas disease in indigenous populations in the Peruvian Amazon basin.

    PubMed

    Cabrera, Rufino; Vega, Silvia; Valderrama, Yadira; Cabanillas, Karina; Fernández, Connie; Rodríguez, Omar; Del Aguila, César; Hernández, Jesús; Mendoza, Leonardo; Ramón Meza, Juan

    2013-01-01

    Several cases of acute Chagas disease (ACD) have been reported in the Peruvian Amazon basin. The objective was to describe and investigate 6 ACD cases in children from indigenous Amazon communities in the province of Datem del Marañón in Loreto department (2006-2010). The mean age was 3.6 years. All patients had fever, 4/6 hepatomegaly, 2/6 splenomegaly, and 5/6 had trypomastigotes of Trypanosoma cruzi on thick smears. The fatality rate was 33.3%. Rhodnius pictipes and Rhodnius robustus adults were found inside the homes and in the peri-domiciles. All cases reported were isolated cases. We report a new focus of ACD in indigenous populations.

  20. Acid maltase deficiency (type II glycogenosis). Morphological and biochemical study of a childhood phenotype.

    PubMed

    Martin, J J; De Barsy, T; De Schrijver; Leroy, J G; Palladini, G

    1976-11-01

    Pathological and biochemical data are reported on a 4(4)/12-year-old male patient with a severe myopathic disorder, hepatomegaly, recurrent pulmonary infections ending fatally. Combined morphological and enzymatic studies on muscle biopsy led to the diagnosis of acid maltase deficiency (Type II glycogenosis). On post mortem examination, lysosomal glycogen storage is found in skeletal muscles and liver, while heart and central nervous sytem are spared. Both hydrolytic and transferase activities of acid maltase are absent in cultured fibroblasts, heart, liver and postmortem skeletal muscles. That in the biopsied skeletal muscle only, the transferase activity alone is deficient while the hydrolytic function is maintained at low normal levels correlates well with the abnormal structure of the glycogen stored in that muscle. However, these findings on biopsied muscle cannot be reconciled with the absence of both functions and the presence of normal glycogen in other biopsied tissues or in postmortem specimens from the same patient.

  1. A case of advanced second-degree atrioventricular block in a ferret secondary to lymphoma

    PubMed Central

    Menicagli, F.; Lanza, A.; Sbrocca, F.; Baldi, A.; Spugnini, E.P.

    2016-01-01

    A female ferret was referred as an emergency for severe respiratory distress symptoms. At presentation, the patient was listlessness, dyspnoeic, and hyper-responsive. The clinical examination evidenced dyspnea with cyanosis, altered cardiac rhythm, and hepatomegaly. Electrocardiography showed an advanced second-degree atrioventricular (AV) block. The liver aspirate was diagnostic for lymphoma. The patient did not respond to supportive therapy and rapidly died. Post-mortem exams confirmed the presence of lymphoma with hepatic involvement. Moreover, a pericardial lymphocytic infiltration and a widespread myocardial nodular localization of lymphoma were evidenced as well. This condition was probably the cause of the cardiac arrhythmia. To the best of our knowledge, ours is the first report of cardiac lymphoma causing heart block in ferrets. PMID:27200273

  2. Case Report: Congenital Erythroleukemia in a Premature Infant with Dysmorphic Features.

    PubMed

    Helin, Heidi; van der Walt, Jon; Holder, Muriel; George, Simi

    2016-01-01

    We present a case of pure erythroleukemia, diagnosed at autopsy, in a dysmorphic premature infant who died of multiorgan failure within 24 hours of birth. Dysmorphic features included facial and limb abnormalities with long philtrum, microagnathia, downturned mouth, short neck as well as abnormal and missing nails, missing distal phalanx from the second toe, and overlapping toes. Internal findings included gross hepatomegaly and patchy hemorrhages in the liver, splenomegaly, and cardiomegaly; and subdural, intracerebral, and intraventricular hemorrhages. Histology revealed infiltration of bone marrow, kidney, heart, liver, adrenal, lung, spleen, pancreas, thyroid, testis, thymus, and placenta by pure erythroleukemia. Only 6 cases of congenital erythroleukemia have been previously reported with autopsy findings similar to those of this case. The dysmorphic features, although not fitting any specific syndrome, make this case unique. Congenital erythroleukemia and possible syndromes suggested by the dysmorphic features are discussed.

  3. Study on impression smears of hepatic coccidiosis in rabbits.

    PubMed

    Sivajothi, S; Reddy, B Sudhakara; Rayulu, V C

    2016-09-01

    Hepatic coccidiosis is a contagious and lethal disease condition in rabbits. The disease was recorded in six rabbits suffering with watery diarrhoea. Clinically, affected rabbits showed decreased growth rate, anorexia, debilitation, diarrhea and rough hair coat. Examination of the faecal samples revealed the presence of unsporulated oocysts of Eimeria spp. After sporulation Eimeria stiedae oocysts were identified. Postmortem examination revealed hepatomegaly with presence of discrete yellowish-white nodules on the surface of the liver. Impression smears from the liver revealed the presence of numerous developmental stages of E. stiedae corresponding with the stage of the liver lesion and also represent the histological changes of the liver. Rabbits were treated with a combination of sulphaquinoxaline and diaveridine for five days.

  4. Invasive amebiasis: an update on diagnosis and management.

    PubMed

    Salles, José Maria; Salles, Mauro José; Moraes, Luiz Alberto; Silva, Mônica Cristina

    2007-10-01

    In its invasive form, the trophozoite is responsible for clinical syndromes, ranging from classical dysentery to extraintestinal disease with emphasis on hepatic amebiasis. Abdominal pain, tenderness and diarrhea of watery stool, sometimes with blood, are the predominant symptoms of amebic colitis. Besides the microscopic identification of Entamoeba histolytica, diagnosis should be based on the detection of specific antigens in the stool or PCR associated with the occult blood in the stool. Amebic dysentery is treated with metronidazole, followed by a luminal amebicide. The trophozoite reaches the liver causing hepatic amebiasis. Right upper quadrant pain, fever and hepatomegaly are the predominant symptoms. The diagnosis is made by the finding of E. histolytica in the hepatic fluid, or in the necrotic material at the edge of the lesion in a minority of patients, and by detection of antigens or DNA. Ultrasonography is the initial imaging procedure indicated. The local perforation of hepatic lesion leads to important and serious complications.

  5. [NASH: REPORT OF THE FIRST CASES AT THE GUILLERMO ALMENARA HOSPITAL

    PubMed

    Padilla Machaca, P. Martín; Torreblanca Nava, Juan; Ferrándiz Quiroz, Jorge; Asato Higa, Carmen

    2000-01-01

    The biochemical, clinical and histological findings are described in nine patients of the Gastroenterology Service of the Guillermo Almenara Irigoyen National Hospital - EsSALUD, with diagnosis of nonalcoholic steatohepatitis (NASH) between January 1996 and April 1998.They did not have significant differences in relation to sex prevalence (5 males and 4 women). Five patients were obese, 2 patients had diabetes mellitus, 5 hyperlipidemic values and a patient was taking prednisone for more than 2 years. Only 2 patients were asymptomatic at the moment of the study; while 4 patients presented with abdominal discomfort, 2 patient had pain in the right upper quadrant (RUQ), 5 patients referred fatigue and hepatomegaly was found on clinical examination. All the patients presented high levels of aminotransferases at the study. All the patients had steatohepatitis in the histology with different combinations of injury to the hepatocyte. Fibrosis and cirrhosis were found in 3 patients. Our results were compared with that described by other authors.

  6. Primary amyloidosis and severe intrahepatic cholestatic jaundice.

    PubMed Central

    Peters, R A; Koukoulis, G; Gimson, A; Portmann, B; Westaby, D; Williams, R

    1994-01-01

    Liver involvement in systemic amyloidosis is frequent but is rarely of clinical importance. Five patients with severe cholestatic jaundice are described and an additional 20 from published reports are reviewed. The most frequent presenting symptoms were lethargy and abdominal pain, which were present for a median of 11 months before the onset of jaundice. Hepatomegaly, usually marked, was present in 92%, with ascites in 56% of the cases. The serum bilirubin concentration was noticeably high and the serum globulin low. Histology of the liver showed considerable perisinusoidal deposition with a slight predilection for the periportal area. Two patients presented with predominant centrilobular deposition. Congo red staining was not uniformly positive. A variety of treatment regimens was tried but median survival was only three months from the onset of jaundice. PMID:7959246

  7. Protective altruistic phlebotomy: hereditary haemochromatosis presenting as hepatocellular carcinoma in a non-cirrhotic 83-year-old man.

    PubMed

    Ooka, Kohtaro; Onyiuke, Ifeyinwa; Zhang, Xuchen; Taddei, Tamar Hamosh

    2016-09-02

    Hereditary haemochromatosis is a multisystem disorder of iron metabolism. Hepatic manifestations include hepatomegaly, cirrhosis and hepatocellular carcinoma. Hepatocellular carcinoma is almost always preceded by cirrhosis. We present a case of an 83-year-old man without history of liver disease or iron overload who presented with abdominal pain. Workup revealed mildly elevated transaminases, ferritin of 3996 and a solitary liver tumour. Biopsy was consistent with hepatocellular carcinoma in a background of haemosiderosis without cirrhosis. He was diagnosed with hereditary haemochromatosis and hepatocellular carcinoma. He underwent a partial hepatectomy and was started on routine phlebotomy and surveillance imaging. He has improved and has not had signs of recurrence or new complications of haemochromatosis. We suggest a possible reason for his unique and late presentation.

  8. Subacute to chronic fowl cholera in a flock of Pharaoh breeder quail.

    PubMed

    Miguel, B; Wang, C; Maslin, W R; Keirs, R W; Glisson, J R

    1998-01-01

    A total of 1300 birds in flock of breeder Pharaoh quail (Coturinix coturnix) experienced a moderate rate of mortality (13%) during a 7-day period. Clinical signs included depression, ruffled feathers, prostration, lameness, inapetence, diarrhea, and periorbital sinus swelling with mucoid discharge and lameness. Gross lesions observed in dead quail were emaciation, carcass congestion, mild hepatomegaly with green discoloration, congested intestinal mucosa, caseous purulent arthritis-osteomyelitis, and thickened crop mucosal epithelium. Histopathologic examination revealed mild hepatic amyloidosis, proliferative parabronchitis, splenic reticular cell hyperplasia, thymic cortical atrophy, subacute bacterial osteomyelitis, periarthritis, and crop mycosis. Pasteurella multocida was isolated from the joints of these birds and the isolates were serotype 3 x 4. These findings suggest that Pharaoh quail are susceptible to P. multocida and are likely to develop subacute to chronic fowl cholera.

  9. Neonatal Jaundice with Splenomegaly: Not a Common Pick.

    PubMed

    Gotti, Giacomo; Marseglia, Antonio; De Giacomo, Costantino; Iascone, Maria; Sonzogni, Aurelio; D'Antiga, Lorenzo

    2016-01-01

    The most common conditions causing cholestatic jaundice in infants are biliary atresia, neonatal hepatitis, and Alagille syndrome. In these disorders, the clinical presentation includes jaundice, pale stools, dark urine and hepatomegaly. Splenomegaly is not an early feature since it is due to portal hypertension, a later event. The finding of cholestatic jaundice and a large spleen usually raises the suspicion of Niemann-Pick type C disease (NP-C), a lysosomal storage disorder. We present and discuss here a case of an infant with liver disease and splenomegaly that were not ascribed to NP-C, but to Gaucher disease type 2. Liver biopsy, enzymatic studies and whole exome sequencing allowed to make the diagnosis. Although rare, Gaucher disease can cause neonatal hepatitis. A prompt recognition is advocated.

  10. Strong diabetes

    PubMed Central

    Young, James; Anwar, Aresh

    2007-01-01

    The case of a 36‐year‐old male professional bodybuilder is reported. He presented to the accident and emergency department with right upper quadrant pain. This was on the background of a 15‐year history of anabolic steroid and growth hormone misuse. Examination revealed mild hepatomegaly and a random blood sugar of 30.2 mmol/l. There was no evidence of ketonuria or acidosis. Biochemical evidence of hepatitis was found, and the patient was in acute renal failure. He was given a sliding scale of insulin and an intravenous infusion of crystalloid. The hepatitis and hyperglycaemia settled with conservative treatment. It is believed that this is the first reported case of frank diabetes precipitated by supraphysiological recreational growth hormone misuse. PMID:17324962

  11. Strong diabetes

    PubMed Central

    Young, James; Anwar, Aresh

    2009-01-01

    The case of a 36-year-old male professional bodybuilder is reported. He presented to the accident and emergency department with right upper quadrant pain. This was on the background of a 15-year history of anabolic steroid and growth hormone misuse. Examination revealed mild hepatomegaly and a random blood sugar of 30.2 mmol/l. There was no evidence of ketonuria or acidosis. Biochemical evidence of hepatitis was found, and the patient was in acute renal failure. He was given a sliding scale of insulin and an intravenous infusion of crystalloid. The hepatitis and hyperglycaemia settled with conservative treatment. It is believed that this is the first reported case of frank diabetes precipitated by supraphysiological recreational growth hormone misuse. PMID:21686671

  12. Fatal toxoplasmosis in a vinaceous Amazon parrot (Amazona vinacea).

    PubMed

    Ferreira, Francisco Carlos; Donatti, Rogerio Venâncio; Marques, Marcus Vinícius Romero; Ecco, Roselene; Preis, Ingred Sales; Shivaprasad, H L; Vilela, Daniel Ambrózio da Rocha; Martins, Nelson Rodrigo da Silva

    2012-12-01

    Toxoplasmosis was diagnosed in a vinaceous Amazon parrot based on histopathology and immunohistochemistry. The bird was prostrate on the bottom of the cage and died. Necropsy revealed edema and congestion of the lungs, cloudy air sacs, and mild hepatomegaly. Histopathology revealed severe pulmonary congestion and edema and interstitial mononuclear cell inflammation associated with many cysts containing bradyzoites of Toxoplasma gondii scattered throughout. The heart had mild multifocal lymphocytic myocarditis and free tachyzoites in the muscle fibers, and the kidneys had mild interstitial nephritis and a few cysts containing bradyzoites of T. gondii. Immunohistochemistry was negative for Sarcocystis falcatula and Neospora caninum and confirmed the protozoa as T. gondii. This is the first description of T. gondii in an endangered species ofa Brazilian psittacine.

  13. Safe intubation in Morquio-Brailsford syndrome: A challenge for the anesthesiologist.

    PubMed

    Chaudhuri, Souvik; Duggappa, Arun Kumar Handigodu; Mathew, Shaji; Venkatesh, Sandeep

    2013-04-01

    Morquio-Brailsford syndrome is a type of mucopolysaccharidoses. It is a rare disease with features of short stature, atlantoaxial instability with risk of cord damage, odontoid hypoplasia, pectus carinatum, spine deformities, hepatomegaly, and restrictive lung disease. Neck movements during intubation are associated with the risk of quadriparesis due to cervical instability. This, along with the distortion of the airway anatomy due to deposition of mucopolysaccharides makes airway management arduous. We present our experience in management of difficult airway in a 3-year-old girl with Morquio-Brailsford syndrome posted for magnetic resonance imaging and computerized tomography scan of a suspected unstable cervical spine. As utmost sagacity during intubation is required, the child was intubated inside operation theatre in the presence of experienced anesthesiologists and then shifted to the peripheral location. Intubation was done with an endotracheal tube railroaded over a pediatric fibreoptic bronchoscope passed through the lumen of a classic laryngeal mask airway, keeping head in neutral position.

  14. Edema, anemia, hypoproteinemia, and acrodermatitis enteropathica: an uncommon initial presentation of cystic fibrosis.

    PubMed

    Muñiz, Antonio E; Bartle, Sam; Foster, Robin

    2004-02-01

    Cystic fibrosis is a genetic disorder characterized by chronic obstructive pulmonary disease, pancreatic exocrine deficiency, and abnormally high sweat electrolyte concentrations. Less frequently, the presenting features in infants may include edema, anemia, hypoproteinemia, and acrodermatitis enteropathica. Liver involvement may produce hepatomegaly and mild elevation of transaminases. This clinical symptom usually presents within the first 6 months of life and is associated with a high morbidity and mortality. Early recognition and institution of appropriate nutritional supplementation and pancreatic enzymes is essential to improve outcome. Since the sweat test may be falsely negative, emergency physicians must maintain a high index of suspicion to make the diagnosis of cystic fibrosis in an infant who presents with edema, anemia, hypoproteinemia, and acrodermatitis enteropathica.

  15. Defibrotide for the treatment of hepatic veno-occlusive disease in children after hematopoietic stem cell transplantation.

    PubMed

    Corbacioglu, Selim; Kernan, Nancy; Lehmann, Leslie; Brochstein, Joel; Revta, Carolyn; Grupp, Stephan; Martin, Paul; Richardson, Paul G

    2012-06-01

    Hepatic veno-occlusive disease (VOD) is a serious complication of stem cell transplantation in children. VOD is characterized by rapid weight gain, hepatomegaly, hyperbilirubinemia and ascites. The pathogenesis of VOD is thought to involve chemotherapy and radiation-induced damage to the sinusoidal endothelium, resulting in endothelial injury, microthrombosis, subendothelial damage and cytokine activation. These processes lead to concomitant progressive hepatocellular dysfunction and subsequent fluid retention and renal impairment. Severe VOD is typically associated with multiorgan failure and high mortality. A number of possible strategies for the prevention and/or treatment of VOD in children have been investigated. The most promising agent to date is defibrotide, a novel polydeoxyribonucleotide with fibrinolytic properties but no major bleeding risk. Numerous studies, including Phase II/III trials, have shown clinical benefit in pediatric patients with the use of defibrotide treatment and prophylaxis. This review discusses VOD in children and focuses on therapeutic options, including defibrotide, in this patient population.

  16. Late-onset hepatic veno-occlusive disease post autologous peripheral stem cell transplantation successfully treated with oral defibrotide.

    PubMed

    Shah, Mithun S; Jeevangi, Nandish Kumar S; Joshi, Amit; Khattry, Navin

    2009-01-01

    Hepatic veno-occlusive disease (VOD) remains one of the commonest and most serious complications after myeloablative hematopoietic stem cell transplantation (HSCT). Clinical diagnosis of hepatic VOD is based on the finding of the triad of painful hepatomegaly, hyperbilirubinemia, and unexplained fluid retention occurring within 21 days of the transplant. However, the uncommon clinical entity of late-onset VOD can occur even beyond 20 days and should be considered in the differential diagnosis of any liver disease of more than 3 weeks' duration. While mild cases usually resolve spontaneously, severe VOD is associated with a grim prognosis. Defibrotide, a polydisperse mixture of single-stranded oligonucleotide with antithrombotic and fibrinolytic effects on microvascular endothelium, has emerged as an effective and safe therapy for patients with severe VOD. We describe a patient who presented 55 days post transplant with clinical features suggestive of VOD. Upon treatment with oral defibrotide, he showed complete resolution of the VOD.

  17. Veno-occlusive disease in hematopoietic stem cell transplantation recipients.

    PubMed

    Sosa, Elisabeth C

    2012-10-01

    Veno-occlusive disease (VOD) is a potentially fatal complication of hematopoietic stem cell transplantation that affects the liver, as well as other organs. Although mild cases resolve on their own, severe cases of VOD carry a high mortality rate. The diagnosis usually is clinically based, with nonspecific signs such as weight gain, ascites, hepatomegaly, right upper quadrant abdominal pain, and elevated serum bilirubin. Although studies are ongoing, no U.S. Food and Drug Administration-approved treatments for VOD exist to date. Therefore, supportive care is a critical part of the treatment plan. Oncology nurses should be familiar with the risk factors and clinical signs of VOD so that patients can be monitored closely for its occurrence. Accurate and timely recognition of VOD is crucial for appropriate treatment.

  18. Sister Mary Joseph nodule as the presenting sign of disseminated prostate carcinoma.

    PubMed

    Deb, Prabal; Rai, Radhey Shyam; Rai, Rahul; Gupta, Ekawali; Chander, Yogesh

    2009-01-01

    Sister Mary Joseph's nodule is referred to as metastasis of visceral malignancy to the umbilicus. Most common primaries are in the gastrointestinal or genital tract, while other locations are rare. We recently encountered a 76-year-old male who was referred to the surgery clinic with an erythematous nodule in the umbilicus measuring 6 cm in diameter with complaints of painless profuse hematuria. History revealed severe obstructive voiding symptoms of 2-year duration, along with significant loss of weight and difficulty in walking. A detailed examination showed hard nodular hepatomegaly, along with grade IV prostatomegaly. Serum prostate-specific antigen was 3069 ng/ml. A pelvic radiograph displayed multiple osteolytic lesions, while ultrasonography showed multiple iso- and hypoechoic lesions in both lobes of the liver, suggestive of metastasis. Histopathology of a Tru-cut biopsy of the prostate confirmed an adenocarcinoma (Gleason score 9) with umbilical metastasis. The patient was on regular follow-up and died 3 months later.

  19. Ischemic stroke as the first manifestation of hepatic epithelioid hemangioendothelioma.

    PubMed

    Zis, Panagiotis; Assi, Avraam; Kravaritis, Dimitrios; Sevastianos, Vassilios A

    2014-03-01

    A 38-year-old obese woman, with a past medical history of cholecystectomy and dyslipidaemia, presented with acute occipital headache, vomiting and rotational vertigo which lasted 8 hours. On admission neurological examination was unremarkable, however general physical examination revealed hepatomegaly. Routine blood tests showed abnormal liver function tests. MRI scan indicated an acute ischemic infarct in the right cerebellum. Extensive investigation was negative. However, liver MRI revealed multiple lesions in both liver lobes. Ultrasound guided liver biopsy and histopathological analysis confirmed the diagnosis of hepatic hemangioendothelioma. In conclusion, hypercoaguable state related to hepatic epithelioid hemangioendothelioma can lead to an ischemic stroke, as a rare first manifestation of the disease. Copyright © 2014 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  20. Acute myelogenous leukemia and glycogen storage disease 1b.

    PubMed

    Pinsk, Maury; Burzynski, Jeffrey; Yhap, Margaret; Fraser, Robert B; Cummings, Brian; Ste-Marie, Micheline

    2002-12-01

    Glycogen storage disease 1b (GSD 1b) is caused by a deficiency of glucose-6-phosphate translocase and the intracellular accumulation of glycogen. The disease presents with failure to thrive, hepatomegaly, hypoglycemia, lactic acidosis, as well as neutropenia causing increased susceptibility to pyogenic infections. We present a case of a young woman with GSD 1b who developed acute myelogenous leukemia while on long-term granulocyte colony-stimulating factor therapy. The presence of two rare diseases in a single patient raises suspicion that GSD 1b and acute myelogenous leukemia are linked. Surveillance for acute myelogenous leukemia should become part of the long-term follow-up for GSD 1b.

  1. Extra-articular features in early rheumatoid disease.

    PubMed Central

    Fleming, A; Dodman, S; Crown, J M; Corbett, M

    1976-01-01

    One hundred and two patients who presented with rheumatoid disease within the first year of onset were studied prospectively every four months for a mean 4.5 years to assess the incidence of extra-articular features. The features that seemed to be common in the early stages included hand-muscle wasting, carpal tunnel syndrome, lymphadenopathy, non-specific ankle swelling, and rheumatoid nodules, and to a lesser extent hepatomegaly, being underweight, conjunctivitis, skin transparency, and a palpable thyroid gland. Those features which seldom occurred early included scleromalacia, temporal artery inolvement, salivary gland enlargement, distal-motor neuropathy, splenomegaly, digital vasculitis, and pulmonary and cardiac complications. Being underweight indicated a significantly more severe outcome. PMID:1083759

  2. Lessons from Hepatocyte-Specific Cyp51 Knockout Mice: Impaired Cholesterol Synthesis Leads to Oval Cell-Driven Liver Injury

    NASA Astrophysics Data System (ADS)

    Lorbek, Gregor; Perše, Martina; Jeruc, Jera; Juvan, Peter; Gutierrez-Mariscal, Francisco M.; Lewinska, Monika; Gebhardt, Rolf; Keber, Rok; Horvat, Simon; Björkhem, Ingemar; Rozman, Damjana

    2015-03-01

    We demonstrate unequivocally that defective cholesterol synthesis is an independent determinant of liver inflammation and fibrosis. We prepared a mouse hepatocyte-specific knockout (LKO) of lanosterol 14α-demethylase (CYP51) from the part of cholesterol synthesis that is already committed to cholesterol. LKO mice developed hepatomegaly with oval cell proliferation, fibrosis and inflammation, but without steatosis. The key trigger was reduced cholesterol esters that provoked cell cycle arrest, senescence-associated secretory phenotype and ultimately the oval cell response, while elevated CYP51 substrates promoted the integrated stress response. In spite of the oval cell-driven fibrosis being histologically similar in both sexes, data indicates a female-biased down-regulation of primary metabolism pathways and a stronger immune response in males. Liver injury was ameliorated by dietary fats predominantly in females, whereas dietary cholesterol rectified fibrosis in both sexes. Our data place defective cholesterol synthesis as a focus of sex-dependent liver pathologies.

  3. Hereditary fructose intolerance presenting as Reye's-like syndrome: report of one case.

    PubMed

    Yang, T Y; Chen, H L; Ni, Y H; Hwu, W L; Chang, M H

    2000-01-01

    Hereditary fructose intolerance (HFI) is an autosomal recessive disease caused by catalytic deficiency of aldolase B (fructose-1, 6-bisphosphate aldolase). Herein we report on a case of hereditary fructose intolerance with initial presentation of episodic unconsciousness, seizure, hypoglycemia, hepatomegaly, and abnormal liver function since the patient was 11 months old. She was diagnosed as Reye's-like syndrome according to a liver biopsy done at 20 months of age. As she grew up, cold sweating, abdominal pain or gastrointestinal discomfort shortly after the intake of fruits was noted and she developed an aversion to fruits, vegetables and sweet-tasting foods. At 9 years of age, a fructose tolerance test signified a positive result that induced hypoglycemia, transient hypophosphatemia, hyperuricaemia, elevation of serum magnesium, and accumulation of lactic acid. Appropriate dietary management and precautions were recommended. The patient has been symptom-free and exhibited normal growth and development when followed up to 12 years of age.

  4. High liver glycogen in hereditary fructose intolerance.

    PubMed

    Cain, A R; Ryman, B E

    1971-11-01

    A case of hereditary fructose intolerance is reported in a girl aged 2 years at the time of her death. She had apparently progressed normally until the age of 14 months. At 19 months she was admitted to hospital with failure to thrive, hepatomegaly, and superficial infections. Investigations revealed hypoglycaemia, persistent acidosis, aminoaciduria, and a high liver glycogen level which suggested that she had glycogen storage disease. There was also some evidence of malabsorption. At necropsy the liver enzyme estimations showed that fructose 1-phosphate aldolase activity was absent and that fructose 1,6-diphosphate aldolase activity was reduced. Hereditary fructose intolerance and glycogen storage disease have been confused in the past on clinical grounds, but a high liver glycogen level has not previously been reported in hereditary fructose intolerance.

  5. A Novel Frameshift Mutation of the ALDOB Gene in a Korean Girl Presenting with Recurrent Hepatitis Diagnosed as Hereditary Fructose Intolerance.

    PubMed

    Choi, Hae-Won; Lee, Yeoun Joo; Oh, Seak Hee; Kim, Kyung Mo; Ryu, Jeong-Min; Lee, Beom Hee; Kim, Gu-Hwan; Yoo, Han-Wook

    2012-01-01

    Hereditary fructose intolerance is an autosomal recessive disorder that is caused by a deficiency in fructose-1-phosphate aldolase (Aldolase B). Children can present with hypoglycemia, jaundice, elevated liver enzymes and hepatomegaly after intake of dietary fructose. Long-term intake of fructose in undiagnosed patients can result in hepatic failure or renal failure. We experienced a case of hereditary fructose intolerance presenting as recurrent hepatitis-like episodes. Detailed evaluation of her dietary habits revealed her avoidance of sweetened foods and fruits. Genetic analysis of ALDOB revealed that she is a homozygote for a novel frameshifting mutation c[758_759insT]+[758_759insT] (p.[val25 3fsX24]+[val253fsX24]). This report is the first of a Korean patient diagnosed with hereditary fructose intolerance using only molecular testing without undergoing intravenous fructose tolerance test or enzyme assay.

  6. A rare metabolic complication of acute lymphoblastic leukemia in childhood: lactic acidosis.

    PubMed

    Gökçe, Müge; Unal, Sule; Gülşen, Hayriye; Başaran, Ozge; Cetin, Mualla; Gümrük, Fatma; Beşbaş, Nesrin; Gürgey, Aytemiz

    2012-01-01

    A 13-year-old boy presented with nausea, fatigue, weight loss, and bone pain for two months. Complete blood count and serum renal and liver function tests were all normal. Blood gas analysis revealed severe metabolic acidosis with high anion gap. Lactate level was 61.2 mmol/L. Abdominal ultrasonography yielded bilateral nephromegaly and hepatomegaly with increased echogenicity. Peripheral blood smear revealed 2% blasts. Bone marrow aspiration showed 'Common ALL Antigen'-negative acute lymphoblastic leukemia by flow cytometric analysis. Metabolic acidosis dissolved as soon as chemotherapy was begun. Lactic acidosis at the presentation of acute lymphoblastic leukemia--especially with low tumor burden--is a very rare and almost always fatal complication. Our patient is still alive and in remission, which is a point of interest in this child.

  7. Severe Hunter syndrome (mucopolysaccharidosis II) phenotype secondary to large deletion in the X chromosome encompassing IDS, FMR1, and AFF2 (FMR2).

    PubMed

    Burruss, Day M; Wood, Tim C; Espinoza, Lesby; Dwivedi, Alka; Holden, Kenton R

    2012-06-01

    A 2-year-old boy with an initial diagnosis of Hunter syndrome (mucopolysaccharidosis II) had a more severe phenotype than expected, which warranted further evaluation. The patient had severe infantile global neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with snoring, wide-spaced teeth, short thick neck, hepatomegaly, an inguinal hernia repaired, early clawhand deformities, and severe generalized hypotonia. X chromosome microarray revealed a large deletion encompassing the genes IDS, FMR1, and AFF2 (FMR2) confirming the diagnoses of both Hunter and fragile X syndromes. This case is also a reminder to clinicians that for optimum patient care, further diagnostic testing is warranted if there is concern that a patient's phenotype is more severe or complex than would be expected for the initial neurogenetic diagnosis.

  8. Primarily isolated hepatic involvement of amyloidosis

    PubMed Central

    Ye, Lei; Shi, Hui; Wu, Hui-Min; Wang, Fang-Yu

    2016-01-01

    Abstract Background: Amyloidosis is particularly difficult to diagnose because the signs and symptoms are subtle. Additionally, there are no specific imaging or laboratory tests, except histopathology. Although it is considered to be a systemic disorder, a small portion of cases may be localized. Introduction of the case: A 54-year-old man presented with nonspecific symptoms (jaundice and back pruritus). Biochemical tests showed a high level of bilirubin and elevated serum tumor markers (CA19–9 and CA125). Routine imaging showed hepatomegaly without heterogeneous enhancement. Liver biopsy confirmed the diagnosis of hepatic amyloidosis. No cardiac or renal involvement was found. The patient accepted treatment involving oral chemotherapy. Conclusion: A rare and unique presentation of hepatic amyloidosis was highlighted in this case. PMID:28033255

  9. Suppression of E-protein activity interferes with the development of BCR-ABL-mediated myeloproliferative disease.

    PubMed

    Ko, Jinkyung; Patel, Nihal; Ikawa, Tomokatsu; Kawamoto, Hiroshi; Frank, Oliver; Rivera, Richard R; Van Etten, Richard A; Murre, Cornelis

    2008-09-02

    E-proteins are a class of helix-loop-helix (HLH) proteins, which play multiple roles throughout lymphoid development. The DNA binding activities of the E-proteins are regulated by a distinct class of antagonistic HLH proteins, named Id1-4. Here we demonstrate that Id2 deficient mice in a C57BL/6 genetic background exhibit increased cellularity in the granulocyte/myeloid progenitor compartment and show significantly higher numbers of maturing neutrophils. Within 6 months of age, Id2 deficient mice succumbed from overwhelming granulocytosis. The disease closely mimicked the distinctive features of human chronic myeloid leukemia: leukocytosis with maturing neutrophils, splenomegaly, hepatomegaly, and myeloid infiltration into peripheral tissues, including spleen, liver, and lungs. Strikingly, forced Id2 expression in murine bone marrow cells substantially delayed the onset of myeloproliferative disease (MPD). Collectively, these studies show that suppression of E-protein activity interferes with the development of BCR-ABL-mediated MPD.

  10. Mycobacteriosis due to Mycobacterium genavense in six pet birds.

    PubMed Central

    Hoop, R K; Böttger, E C; Ossent, P; Salfinger, M

    1993-01-01

    Six cases of mycobacteriosis due to Mycobacterium genavense in three budgerigars (Melopsittacus undulatus), one orange-winged amazon (Amazona amazonica), one flycatcher (Cyanoptila cyanomelana), and one zebra finch (Taeniopygia guttata) are discussed. Gross lesions associated with the infection included a high degree of muscular wasting (five cases), hepatomegaly (four cases), and thickening of the wall of the small intestine (four cases). Granulomas were found in the lung (one case) and the subcutis (one case). Acid-fast bacilli were detected in the liver of all six birds. Only the use of acidic BACTEC mediums consistently led to growth, whereas the egg-based medium failed. These findings point to a possible role of the environment as a reservoir for M. genavense. Images PMID:8463407

  11. [Idiopathic hemochromatosis, analysis of 19 cases].

    PubMed

    Rodríguez Cuartero, A; Pérez Blanco, F; González Martínez, F

    1997-01-01

    We studied 19 patients with idiopathic haemochromatosis between 12,000 patients by the Department of Internal Medicine. By 17 the diagnosis was made very late with severe state of chronic liver disease, only two went to consult because transaminases were increased without exploration in routinary examination. Hepatomegalie was constant exploratory feature (100%) followed by impaired hydrocarbonated metabolism (52%). The biochemical usual pattern was: hipersideremie, decreased transferrin and increased transaminases activities in all the patients. Increased iron urinary excretion (more than 8 g/24 h) with desferroxiamine administration is a useful biochemical feature if because severe liver disease the biopsy punction was not indicated due to impaired hemostasia. Because the serious illness with late diagnosis and the normal survival if the diagnosis is early the iron metabolism would be useful screening as in another countries.

  12. Carnitine deficiency: clinical, morphological, and biochemical observations in a fatal case.

    PubMed Central

    Engel, A G; Banker, B Q; Eiben, R M

    1977-01-01

    A fatal case of carnitine deficiency is described. The patient had intermittent metabolic acidosis, fluctuating hepatomegaly, and progressive muscle weakness since 22 months of age. One of two liver biopsies revealed lipid accumulation in the hepatocytes, and a muscle biopsy at age 5 years showed a lipid storage myopathy. Type 1 fibres were the most severely affected. Satellite and vascular endothelial cells also contained abnormal lipid deposits. Quantitative electron microscopy demonstrated an approximately 50-fold increase in lipid material, and a twofold increase in mitochondria in myofibres. The muscle carnitine level was less than one-seventh of the lowest value encountered in 74 biopsies from non-weak or neuromuscular disease controls. The basic abnormality in this patient is assumed to be a defect in carnitine biosynthesis. Images PMID:874508

  13. Generalised lipodystrophy.

    PubMed

    Choo, K E; Sharifah, A; Ariffin, W A; Mafauzy, M

    1990-06-01

    We report a Malay girl suffering from generalised lipodystrophy, with clinical features of absence of body adipose tissue, hepatomegaly, hyperpigmentation and muscular hypertrophy. She also had hyperlipaemia, hypercholesterolemia and non-ketotic insulin-resistant diabetes mellitus. The possibility of malnutrition-related diabetes mellitus was excluded because of (a) no personal or family history of malnutrition (b) no pancreatic calcification (c) total loss of subcutaneous fat and (d) her requirement for insulin was more than 21.2 units/kg body weight which would be too high even for malnutrition-related diabetes mellitus. Attempts were made to control her diabetes initially with subcutaneous boluses insulin, then continuous intravenous insulin infusion (CIVII) and finally orally with fenfluramine and chlorpropamide.

  14. Childhood acute leukemia in West Bengal, India with an emphasis on uncommon clinical features.

    PubMed

    Biswas, Saumitra; Chakrabarti, Sudipta; Chakraborty, Jayati; Paul, Prabir Chandra; Konar, Abantika; Das, Shikha

    2009-01-01

    Leukemias are the commonest childhood malignancy in West Bengal. This study was undertaken on 75 children at NRS Medical College, West Bengal to determine the distribution of signs and symptoms of leukemia and to identify unusual clinical features. After obtaining clinical history, physical examination, hematological and radiological investigations were performed. Acute lymphoblastic leukaemia (ALL, 72%) was the commonest followed by acute myeloid leukaemia (AML, 18.7%). Common symptoms and signs were fever (85.3%), pallor (64%), hepatomegaly (72%), splenomegaly (60%) and lymphadenopathy (50.7%). The uncommon signs and symptoms were abdominal pain (9.3%), joint pain (9.3%), hematemesis and malena (8%), diarrhea (5.3%), proptosis (2 cases), dysphagia, mediastinal mass and parotid swelling (1 case each). Uncommon clinical presentations lead to delay in diagnosis in some cases. Awareness of uncommon signs and symptoms of childhood leukemia together with laboratory tests may help in earlier diagnosis and proper management of the patients.

  15. Dengue in children: a systematic review of clinical and laboratory factors associated with severity.

    PubMed

    Wakimoto, Mayumi Duarte; Camacho, Luiz Antonio Bastos; Guaraldo, Lusiele; Damasceno, Luana Santana; Brasil, Patrícia

    2015-01-01

    Dengue is a potentially life-threatening illness, and children are at higher risk of severity. This review aimed to systematize the identified clinical and laboratory parameters associated with severe dengue in children, as monitoring these signs and fluid-replacement therapy are actually the cornerstones of dengue treatment. Of the 527 studies initially reviewed, 21 were selected as follows: three cohort studies, three case-control studies, 14 cross-sectional studies and one not defined. Eighteen studies were carried out in Asia and three in the Americas. Hepatomegaly, lethargy, abdominal pain, bleeding, hemoconcentration and thrombocytopenia, all referenced as warning signs in the WHO 2009 Guidelines, were the clinical and laboratory parameters independently associated with severity in more than one study. The recognition of these known warning signs associated to severe dengue disease underlines the usefulness of the WHO 2009 classification.

  16. Transient abnormal myelopoiesis in a phenotypically normal newborn with polyclonal trisomy 21.

    PubMed

    Corazza, Francesco; Astolfi, Annalisa; Libri, Virginia; Franzoni, Monica; Serravalle, Salvatore; Alessandroni, Rosina; Melchionda, Fraia; Pession, Andrea

    2014-06-01

    We report a rare case of transient abnormal myelopoiesis (TAM) in a phenotypically normal neonate. The presence of a palpable hepatomegaly prompted in-depth laboratory tests, which revealed the presence of severe hyperleukocytosis, with blast cells present in a peripheral blood smear. Although no signs of Down syndrome were present, we suspected TAM. Further analysis identified a mutation in GATA1 along with the unique finding of two different trisomic cell lines, detected upon karyotyping; one with trisomy 21 only, and one with trisomies 21 and 22, which was present in a subpopulation of peripheral blood cells. These genetic abnormalities disappeared by the age of 6 months. The presence of two different trisomic clones may be an evidence of the polyclonal nature of TAM in this patient.

  17. Adult onset Still's disease and collapsing glomerulopathy: successful treatment with intravenous immunoglobulins and mycophenolate mofetil.

    PubMed

    Bennett, A N; Peterson, P; Sangle, S; Hangartner, R; Abbs, I C; Hughes, G R V; D'Cruz, D P

    2004-06-01

    In this Grand Round we present a 32-yr-old African man who became severely ill after a 5-month history of weight loss, pyrexia, arthralgia, sweats and rash. He went on to develop pericarditis, pericardial effusion with tamponade, hepatomegaly with abnormal liver function tests, lymphadenopathy, massive proteinuria and required ventilatory, circulatory and renal support. The differential diagnosis was adult onset Still's disease, systemic lupus erythematosus (SLE), infection and lymphoma. Primary infection and lymphoma were excluded and he was treated, with dramatic success, with intravenous immunoglobulins (i.v.IG). Subsequent renal biopsy excluded SLE but confirmed collapsing glomerulopathy. The proteinuria improved dramatically following treatment with mycophenolate mofetil. We discuss some of the difficult diagnostic and management issues raised by this patient and the different uses and mechanisms of action of i.v.IG.

  18. Hb Lansing (HBA2: c.264C > G) and a new β promoter transversion [-52 (G > T)]: an attempt to define the phenotype of two mutations found in the Omani population.

    PubMed

    Hassan, Suha M; Harteveld, Cornelis L; Bakker, Engbert; Giordano, Piero C

    2015-01-01

    We report two examples showing how problematic it can be to define the phenotype of new or rare globin genes mutations. We describe two mutations observed for the first time in the Omani population: the first was found in the consanguineous parents of a deceased newborn with hepatomegaly, cardiomegaly and severe hemolytic anemia, putatively homozygous for the rare Hb Lansing (HBA2: c.264C > G) variant. The second is a novel β-globin gene promoter mutation [-52 (G > T)] observed in four independent patients. Two with borderline/elevated Hb A2, α-thalassemia (α-thal) and hypochromic red cell indices, and two heterozygotes for Hb S (HBB: c.20A > T), α-thal and with Hb A/Hb S ratios possibly indicating a very mild β(+)-thalassemia (β(+)-thal) mutation.

  19. DRESS and Ischemic Stroke.

    PubMed

    Cahyanur, Rahmat; Oktavia, Dina; Koesno, Sukamto

    2012-07-01

    DRESS (drug rash eosinophilia and systemic symptoms) is a life threatening condition characterized by skin rash, fever, leucocytosis with eosinophilia or atypical lymphocytosis, lymphadenopathy, and internal organ involvement. This case report would like to describe an interesting case of DRESS coincidence with ischemic stroke. A 38 year old woman had been admitted with skin rash and fever since four days before. Four weeks before admission she received antibiotic and multivitamin for one week. The patient looked ill, with body temperature 38.0°C. Marked physical findings were cervical lymphadenopathy and hepatomegaly. Dermatological examination finding was generalized exanthema. Laboratory evaluation showed leucocytosis, eosinophilia, and increased level of ALT and AST. During hospitalization the patient also suffered from ischemic stroke. Treatments administered in this patient were oxygen, adequate intravenous fluid, parenteral nutrition, methyl prednisolone, cethirizin bid, ranitidin bid, and antibiotic. The antibiotic treatment in this case was performed with graded challenge or test dosing.

  20. Hepatitis in children with acquired immune deficiency syndrome. Histopathologic and immunocytologic features.

    PubMed

    Duffy, L F; Daum, F; Kahn, E; Teichberg, S; Pahwa, R; Fagin, J; Kenigsberg, K; Kaplan, M; Fisher, S E; Pahwa, S

    1986-01-01

    Hepatic morphology and immunocytology were evaluated in 4 children with clinical and immunologic characteristics of the acquired immune deficiency syndrome or acquired immune deficiency syndrome related complex. All 4 children had hepatomegaly and increased serum alanine and aspartate aminotransferase activity. Both lobular and portal changes were noted. Lymphocytic infiltration, piecemeal necrosis, hepatocellular and bile duct damage, sinusoidal cell hyperplasia, and endothelialitis were prominent. Vesicular rosettes in sinusoidal lymphocytes and tubuloreticular structures in sinusoidal endothelial cells were demonstrated by electron microscopy. The lymphocytic infiltrate in both the lobular and portal spaces was characterized by a relative increase of cytotoxic/suppressor (T8) cells. Hepatitis may be a common feature of pediatric acquired immune deficiency syndrome and acquired immune deficiency syndrome-related complex. Although the histopathologic changes are consistent with chronic active hepatitis, the specific pathogenesis remains to be determined.

  1. Active viral B hepatitis in parenteral drug abusers with acquired immune deficiency syndrome (AIDS).

    PubMed

    Leevy, C B; Nurse, H; Kapila, R

    1989-01-01

    Eighty-percent of 47 parenteral drug abusers with hepatomegaly and acquired immunodeficiency syndrome had HBV DNA in serum, although only 27% were HBsAg or "e" antigen-positive by polyclonal radioimmunoassay. Liver biopsies from each of 37 HBV DNA seropositive patients showed HBV DNA and were HBcAg-positive. The absence of positive HBsAg and "e" antigen in HBV DNA-positive patients was attributable to the presence of immune complexes; after in vitro dissociation of these complexes there was an increase in HBsAg from 24% to 86%, and of "e" antigen from 19% to 62%. These data indicate that actively replicating hepatitis B virus is common in patients with AIDS, and that precautions should be taken to prevent its dissemination. Therapy in these patients should address both human immunodeficiency and hepatitis B virus infections.

  2. Diffuse neonatal hemangiomatosis in a very low-birthweight infant treated with erythropoietin.

    PubMed

    Okuno, Takashi; Tokuriki, Shuko; Yoshino, Tomomi; Tanaka, Nanae; Ohshima, Yusei

    2015-04-01

    Diffuse neonatal hemangiomatosis (DNH) is a rare condition characterized by the concomitant development of multiple cutaneous infantile hemangiomas (IH) and visceral hemangiomas. Recently, an association between erythropoietin treatment and an increased incidence of infantile hemangioma was noted. A Japanese male infant was born via cesarean section at 27 weeks of gestation. Following the commencement of erythropoietin treatment for anemia of prematurity, he developed multiple cutaneous hemangiomas, high cardiac output heart failure and hepatomegaly. Abdominal imaging indicated comorbidity of diffuse infantile hepatic hemannigomas, resulting in the final diagnosis of DNH. The discontinuation of erythropoietin treatment and long-term therapy with propranolol improved the hepatic lesions and cutaneous hemangiomas. The possibility of multiple organ involvement and the exacerbating effects of erythropoietin treatment should be considered in cases in which multiple cutaneous hemangiomas develop in preterm infants receiving erythropoietin treatment. © 2015 Japan Pediatric Society.

  3. Case Report Diffuse large B-cell lymphoma in the primary bone marrow.

    PubMed

    Hu, Y; Chen, S L; Huang, Z X; Gao, W; An, N

    2015-06-11

    This study aimed to improve understanding of the diagnosis, treatment, and prognosis of primary bone marrow (PBM) diffuse large B-cell lymphoma (DLBCL), a rare illness. We report a 56-year-old man with pancytopenia and hyperbilirubinemia but without lymphadenopathy, hepatomegaly, or splenomegaly. Bone marrow aspiration, flow cytometry, biopsy, and immunohistochemistry confirmed DLBCL. Two cycles of rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone were administered. Blood cell numbers and hyperbilirubinemia improved. Although the patient did not completely recover, he survived for at least 3 years after chemotherapy and receiving blood transfusions. PBM DLBCL is a distinct, aggressive lymphoma characterized by lymphoma cells only in the bone marrow and effectively treated via chemotherapy. Prognoses for PBM DLBCL vary.

  4. Autoimmune hepatitis in a teenage boy: 'overlap' or 'outlier' syndrome--dilemma for internists.

    PubMed

    Talukdar, Arunansu; Khanra, Dibbendhu; Mukherjee, Kabita; Saha, Manjari

    2013-02-08

    An 18-year-old boy presented with upper gastrointestinal bleeding and jaundice. Investigations revealed coarse hepatomegaly, splenomegaly and advanced oesophageal varices. Blood reports showed marked rise of alkaline phosphatase and more than twofold rise of transaminases and IgG. Liver histology was suggestive of piecemeal necrosis, interphase hepatitis and bile duct proliferation. Antinuclear antibody was positive in high titre along with positive antismooth muscle antibody and antimitochondrial antibody. The patient was positive for human leukocyte antigen DR3 type. Although an 'overlap' syndrome exists between autoimmune hepatitis (AIH) and primary biliary cirrhosis (PBC), a cholestatic variant of AIH, a rare 'outlier' syndrome could not be excluded in our case. Moreover, 'the chicken or the egg', AIH or PBC, the dilemma for the internists continued. The patient was put on steroid and ursodeoxycholic acid with unsatisfactory response. The existing international criteria for diagnosis of AIH are not generous enough to accommodate its variant forms.

  5. Mosaic "tetrasomy" 8p: case report and review of the literature.

    PubMed

    Winters, J; Markello, T; Nance, W; Jackson-Cook, C

    1995-10-01

    A male infant presenting with multiple anomalies including a midline cleft palate, anasarca, hepatomegaly, pulmonary edema, agenesis of the corpus collosum, and complex congential cardiac anomalies was found to have mosaicism for an additional chromosome that appeared (following GTG-banding and FISH) to be a monocentric isochromosome of the short arm of chromosome 8 (46,XY/47,XY, +i(8p)). Nine other cases of mosaicism for an additional i(8p) were reviewed. Considerable phenotypic variation was noted. Consistent features were identified including agenesis of the corpus callosum, cardiac malformations, and minor facial dysmorphology. The phenotype of these patients partially overlaps those of trisomy 8 and trisomy 8p. By studying additional individuals with this condition, mosaic tetrasomy 8p may emerge as a recognizable clinical phenotype.

  6. ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing.

    PubMed

    Gadomski, Therese E; Bolton, Melody; Alfadhel, Majid; Dvorak, Chris; Ogunsakin, Olalekan A; Nelson, Stephen L; Morava, Eva

    2017-10-01

    ALG13-CDG has been recently discovered as a disorder of severe developmental, intellectual and speech disability, microcephaly, visual abnormalities, seizures, hepatomegaly, coagulation abnormalities, and abnormal serumtransferrin isoelectric focusing in serum. A male with seizures, delayed motor, and speech development, but normal cognition carried a hemizygous, predicted pathogenic ALG13 variant (p.E463G). N-glycosylation studies in plasma were normal. ICAM-1 expression was decreased in patient fibroblasts, supporting the variant's pathogenicity. Adding D-galactose to the patient's fibroblast culture increased ICAM-1 expression in vitro, offering a potential treatment option in ALG13-CDG. The present report is a new example for an N-glycosylation disorder, that may present with normal transferrin isoform analysis, and also demonstrates, that CDG type I patients can have normal cognitive development. © 2017 Wiley Periodicals, Inc.

  7. Early manifestations of multiple sulfatase deficiency.

    PubMed

    Burk, R D; Valle, D; Thomas, G H; Miller, C; Moser, A; Moser, H; Rosenbaum, K N

    1984-04-01

    We describe two boys, presenting by 1 year of age, with developmental delay from birth, mildly coarse facial features, and hepatomegaly. These clinical features were most suggestive of a mucopolysaccharidosis, particularly MPS II. Biochemical studies, including sulfate incorporation in fibroblasts and lysosomal enzyme analyses in fibroblasts, leukocytes, and serum, showed abnormalities in both sulfatide and mucopolysaccharide metabolism and led to the diagnosis of multiple sulfatase deficiency. With time, both patients developed an ichthyotic rash and profound intellectual deterioration. We conclude that findings in the first year of life in some patients with MSD may closely resemble those in patients with a MPS disorder rather than the late infantile form of metachromatic leukodystrophy, as is classically described. Thus, MSD should be considered in the young patient suspected of having a MPS disorder.

  8. Hepatic capillariasis in a Cape ground squirrel (Xerus inaurus).

    PubMed

    Erlwanger, K H; De Witt, B A; Fick, L G; Hetem, R S; Meyer, L C R; Mitchell, D; Wilson, W A; Mitchell, B

    2009-12-01

    We report, for the first time, an incidental finding of Calodium hepaticum infestation in a sub-adult female Cape ground squirrel (Xerus inaurus). Post mortem examination of the squirrel revealed severe haemoperitoneum, splenomegaly and hepatomegaly with miliary white spots distributed diffusely throughout the hepatic parenchyma. Histologically the portal tracts in the liver showed granulomatous inflammation with fibrosis and numerous giant cells. Occasional adult worms were identified and there were multiple C. hepaticum eggs distributed diffusely throughout the portal tracts and the parenchyma. The spleen also contained C. hepaticum eggs. The genus Rattus is the primary host and reservoir of C. hepaticum, but C. hepaticum infections have been reported previously in other Sciuridae. Based on our findings, people should be cautious of the zoonotic potential of C. hepaticum, when they come into contact with the Cape ground squirrel.

  9. Metabolic and structural consequences of ethanol and chloroquin administration during gestation on the developing fetus

    SciTech Connect

    Sharma, A.; Rawat, A.K.

    1987-05-01

    In the present study the effects of ethanol and chloroquin administration during gestation have been investigated on the developing rat fetus. Ethanol was given in liquid Sustacal diet as 30% of calories and controls were fed isocaloric sucrose-diet. Chloroquin was given intragastrically corresponding controls received saline. Chloroquin resulted in prenatal growth retardation leading to maximum decrease of 46% in body weight of the fetus. It also resulted in 30% higher incidence of hepatomegaly; 15% higher incidence of liquification of visceral organs; 34% decrease in the ossification of sternum; 9% higher defects of cleft palate, wrist drop, clubbed foot and brain liquification compared to the corresponding controls. Ethanol resulted in pre and post-natal growth retardation, cleft palate, still births and lowered brain weights. Fetuses from the ethanol-fed group also showed inhibited protein synthesis, RNA and DNA synthesis in the brain compared to the controls.

  10. [Fibrosing alveolitis with hepatitis C-related cryoglobulinemia].

    PubMed

    Witte, L; Rupp, J; Heyer, P; Dalhoff, K; Schaaf, B

    2008-04-01

    A 56-year-old man presented with fever, myalgia and weakness of the limbs for four weeks. The physical examination showed a skin rash, hepatomegaly and reduced mobility of the limbs due to pain. Laboratory tests revealed an elevated rheumatoid factor, cryoglobulins and were positive for hepatitis C-antibodies. The lung function tests indicated mild obstruction and a moderate decrease of diffusion capacity. Bronchoalveolar lavage showed lymphocytic alveolitis. Computed tomography of the thorax revealed mediastinal lymphadenopathy, diffuse ground-glass infiltrates and bilateral signs of fibrosis in the lower lung fields. Because of the fibrosing alveolitis associated with hepatitis C-related cryoglobulinemia, immunosuppression was started with high-dosage prednisone and azathioprine. The symptoms improved on this treatment. Hepatitis C-related cryoglobulinemia is a rare condition that usually presents with nonspecific symptoms. Severe pulmonary involvement is very uncommon. There are no general guidelines about treatment.

  11. Tophaceous gout in a female premenopausal patient with an unexpected diagnosis of glycogen storage disease type Ia: a case report and literature review.

    PubMed

    Zhang, Bingqing; Zeng, Xuejun

    2016-11-01

    A young female with recurrent tophaceous gout and infertility presented to our clinic. On clinical evaluation, hypoglycaemia, hypertriglyceridaemia, lactic acidosis, and hepatomegaly were noted. Targeted gene sequencing revealed a novel composite heterozygous c.190G>T/c.508C>T mutation in the G6PC gene of the patient, leading to a diagnosis of glycogen storage disease type Ia. Her father possessed a heterozygous c.190G>T mutation, and her mother possessed a heterozygous c.508C>T mutation. A search of the previous literature revealed 16 reported cases of glycogen storage disease type Ia with gout. Here, we describe a female patient with gout, review previous cases, and discuss the mechanisms of gout and hyperuricaemia in glycogen storage disease type Ia.

  12. Opisthorchis viverrini: The carcinogenic human liver fluke

    PubMed Central

    Kaewpitoon, Natthawut; Kaewpitoon, Soraya J; Pengsaa, Prasit; Sripa, Banchob

    2008-01-01

    Opisthorchiasis caused by Opisthorchis viverrini remains a major public health problem in many parts of Southeast Asia, including Thailand, Lao PDR, Vietnam and Cambodia. The infection is associated with a number of hepatobiliary diseases, including cholangitis, obstructive jaundice, hepatomegaly, cholecystitis and cholelithiasis. Multi-factorial etiology of cholangiocarcinoma, mechanical damage, parasite secretions, and immunopathology may enhance cholangiocarcinogenesis. Moreover, both experimental and epidemiological evidences strongly implicate liver fluke infection as the major risk factor in cholangiocarcinoma, cancer of the bile ducts. The liver fluke infection is induced by eating raw or uncooked fish products that is the tradition and popular in the northeastern and northern region, particularly in rural areas, of Thailand. The health education programs to prevent and control opisthorchiasis are still required in the high-risk areas. PMID:18205254

  13. [Use of ultrasound, ultrasound-directed fine needle puncture and aspiration in amebic abscess of the liver. Case report and short overview].

    PubMed

    Hess, B; Binswanger, R O; Otto, R

    1982-11-13

    Case report on a 48-year-old Swiss male living in Burundi who suddenly fell ill with vomiting and anorexia, followed by pappy stools, weakness and impotence. He presented with hepatomegaly, while sedimentation rate and alkaline phosphatase were both elevated. Stool examination revealed cysts and vegetative forms of Entamoeba histolytica, while amebic serology was negative. Treatment with ornidazole and later with diloxanide furoate was given. Sonography showed two cystoid areas in the right lobe of the liver. In the third sonographically guided fine-needle puncture both lesions were fully aspirated. Amebic serological tests were now positive for the first time. Six weeks later the sonogram showed a normal liver feature. The symptomatology and diagnosis of hepatic amebic abscess are discussed, with special reference to the important role of sonographically guided fine-needle puncture and drainage. Sonographic technique and differential diagnosis are briefly demonstrated.

  14. Lymphosarcoma with leukemic blood profile in a Savannah monitor lizard (Varanus exanthematicus).

    PubMed

    Schultze, A E; Mason, G L; Clyde, V L

    1999-03-01

    A 6-mo-old male Savannah monitor lizard (Varanus exanthematicus) was presented for lethargy and anorexia of 7 days duration. Physical examination revealed a slightly raised subcutaneous mass (1 cm diameter) in the left scapular area. Fine-needle aspiration cytology of the mass revealed a population of immature, pleomorphic lymphoid cells consistent with lymphosarcoma. A hemogram indicated marked leukocytosis (465,000 cells/microl) characterized by extreme lymphocytosis and many circulating lymphoid blast cells. The lizard was euthanized at the owner's request. Necropsy revealed severe hepatomegaly and multiple raised, ulcerated mural masses in the gastrointestinal tract. There were many raised, poorly demarcated tan foci in all the parenchymal organs. Histopathologic examination confirmed infiltration of all parenchymal organs by neoplastic lymphoid cells. Transmission electron microscopic examination failed to identify viruses within the neoplastic cells. A literature review revealed few reports of squamate leukemia and lymphosarcoma and none in Savannah monitor lizards.

  15. Coexistence of liver hydatid cyst and brucellosis in an adolescent.

    PubMed

    Timur, Ozge Metin; Tanır, Gönül; Afşarlar, Cağatay Evrim; Bayhan, Gülsüm Iclal; Ozgüner, Ismet Faruk

    2013-01-01

    A 15-year-old girl, who was evaluated for arthralgia of knees, was diagnosed as having brucellosis by serum agglutination and enzyme linked immunosorbent assay tests. Physical examination of the patient revealed massive hepatomegaly. Abdominal ultrasonography and computerised tomography showed a single large cystic lesion of the liver. The echinococcus indirect haemagglutination was positive at a titre of 1/1280. A giant hydatid cyst was removed with surgical intervention; in addition, she was treated with albendazole and antibrucellosis drug combination with success. Here, an immunocompetent adolescent case with brucellosis and concomitant hydatid cyst disease was reported to emphasise that the coexistence of both entities are infrequent but may occur due to increased prevalence of the diseases.

  16. Natural history, clinicoradiologic correlates, and response to triclabendazole in acute massive fascioliasis.

    PubMed

    Marcos, Luis A; Tagle, Martin; Terashima, Angelica; Bussalleu, Alejandro; Ramirez, Cesar; Carrasco, Carlos; Valdez, Luis; Huerta-Mercado, Jorge; Freedman, David O; Vinetz, Joseph M; Gotuzzo, Eduardo

    2008-02-01

    Fascioliasis is highly endemic in the Andean region of South America. Newer serological assays have improved our ability to diagnose acute fascioliasis. The diagnosis was established by Fasciola hepatica serology (Fas2-ELISA or Western blot) in 10 patients. Identifiable exposure included ingestion of watercress (N = 8), alfalfa juice (N = 5), and lettuce (N = 1). Computed tomography of the abdomen showed hepatomegaly (N = 9), track-like hypodense lesions with subcapsular location (N = 8), and subcapsular hematoma (N = 2). Radiologic sequelae included cyst calcifications detectable at least 3 years after treatment. Stool examinations were negative for F. hepatica eggs; serology was positive (Arc II [N = 2], Fas2-ELISA [N = 6], Western blot [N = 2]). The syndrome of eosinophilia, fever, and right upper quadrant pain, elevated transaminases without jaundice, hypodense liver lesions on CT, and an appropriate exposure history suggests acute fascioliasis. Fascioliasis is specifically treatable with a single dose of triclabendazole.

  17. Radionuclide imaging of the liver in human fascioliasis

    SciTech Connect

    Rivera, J.V.; Bermudez, R.H.

    1984-08-01

    The clinical, laboratory, and scintigraphic findings in four cases of human fascioliasis are described. Acute onset of fever, abdominal pain, and weight loss in a person who has ingested watercress constitutes the clinical syndrome often seen. Eosinophilia and alteration in liver function tests, particularly alkaline phosphatase are frequent. Tc-99m sulfur colloid images showed hepatomegaly in four patients, focal defects in two, splenomegaly in three, and increased splenic uptake in two. Gallium citrate (Ga 67) images show increased uptake in the focal lesions in two of two. Sonographic imaging showed focal lucent abnormality in one of three. Liver biopsy findings were nonspecific. The differential diagnosis from other invasive parasitic diseases is discussed. A possible role of hepatic imaging in the evaluation of fascioliasis is suggested.

  18. Mig-6 Plays a Critical Role in the Regulation of Cholesterol Homeostasis and Bile Acid Synthesis

    PubMed Central

    Ku, Bon Jeong; Kim, Tae Hoon; Lee, Jae Hee; Buras, Eric D.; White, Lisa D.; Stevens, Robert D.; Ilkayeva, Olga R.; Bain, James R.; Newgard, Christopher B.

    2012-01-01

    The disruption of cholesterol homeostasis leads to an increase in cholesterol levels which results in the development of cardiovascular disease. Mitogen Inducible Gene 6 (Mig-6) is an immediate early response gene that can be induced by various mitogens, stresses, and hormones. To identify the metabolic role of Mig-6 in the liver, we conditionally ablated Mig-6 in the liver using the Albumin-Cre mouse model (Albcre/+Mig-6f/f; Mig-6d/d). Mig-6d/d mice exhibit hepatomegaly and fatty liver. Serum levels of total, LDL, and HDL cholesterol and hepatic lipid were significantly increased in the Mig-6d/d mice. The daily excretion of fecal bile acids was significantly decreased in the Mig-6d/d mice. DNA microarray analysis of mRNA isolated from the livers of these mice showed alterations in genes that regulate lipid metabolism, bile acid, and cholesterol synthesis, while the expression of genes that regulate biliary excretion of bile acid and triglyceride synthesis showed no difference in the Mig-6d/d mice compared to Mig-6f/f controls. These results indicate that Mig-6 plays an important role in cholesterol homeostasis and bile acid synthesis. Mice with liver specific conditional ablation of Mig-6 develop hepatomegaly and increased intrahepatic lipid and provide a novel model system to investigate the genetic and molecular events involved in the regulation of cholesterol homeostasis and bile acid synthesis. Defining the molecular mechanisms by which Mig-6 regulates cholesterol homeostasis will provide new insights into the development of more effective ways for the treatment and prevention of cardiovascular disease. PMID:22912762

  19. Mig-6 plays a critical role in the regulation of cholesterol homeostasis and bile acid synthesis.

    PubMed

    Ku, Bon Jeong; Kim, Tae Hoon; Lee, Jae Hee; Buras, Eric D; White, Lisa D; Stevens, Robert D; Ilkayeva, Olga R; Bain, James R; Newgard, Christopher B; DeMayo, Francesco J; Jeong, Jae-Wook

    2012-01-01

    The disruption of cholesterol homeostasis leads to an increase in cholesterol levels which results in the development of cardiovascular disease. Mitogen Inducible Gene 6 (Mig-6) is an immediate early response gene that can be induced by various mitogens, stresses, and hormones. To identify the metabolic role of Mig-6 in the liver, we conditionally ablated Mig-6 in the liver using the Albumin-Cre mouse model (Alb(cre/+)Mig-6(f/f); Mig-6(d/d)). Mig-6(d/d) mice exhibit hepatomegaly and fatty liver. Serum levels of total, LDL, and HDL cholesterol and hepatic lipid were significantly increased in the Mig-6(d/d) mice. The daily excretion of fecal bile acids was significantly decreased in the Mig-6(d/d) mice. DNA microarray analysis of mRNA isolated from the livers of these mice showed alterations in genes that regulate lipid metabolism, bile acid, and cholesterol synthesis, while the expression of genes that regulate biliary excretion of bile acid and triglyceride synthesis showed no difference in the Mig-6(d/d) mice compared to Mig-6(f/f) controls. These results indicate that Mig-6 plays an important role in cholesterol homeostasis and bile acid synthesis. Mice with liver specific conditional ablation of Mig-6 develop hepatomegaly and increased intrahepatic lipid and provide a novel model system to investigate the genetic and molecular events involved in the regulation of cholesterol homeostasis and bile acid synthesis. Defining the molecular mechanisms by which Mig-6 regulates cholesterol homeostasis will provide new insights into the development of more effective ways for the treatment and prevention of cardiovascular disease.

  20. Glycogen storage disease type III in the Irish population.

    PubMed

    Crushell, Ellen; Treacy, Eileen P; Dawe, J; Durkie, M; Beauchamp, Nicholas J

    2010-12-01

    Glycogen storage disease type III (GSD III) results from mutations of the AGL gene encoding the glycogen debrancher enzyme. The disease has clinical and biochemical heterogeneity reflecting the severity of the AGL mutations. We sought to characterise the molecular defects in our cohort of Irish patients with GSD III. Fifteen patients from eight unrelated Irish families were identified: six males and nine females. The age ranged from 2-39 years old, and all presented in the first 3 years of life. Four patients (of three families) had mild disease with hepatomegaly, mild hypoglycaemia and normal creatine kinase (CK) levels. Five families had more severe disease, with liver and skeletal muscle involvement and elevated CK. Eleven different mutations were identified amongst the eight families. Of the 11, six were novel: p.T512fs, p.S736fs, p.A1400fs, p.K1407fs, p.Y519X and p.D627Y. The family homozygous for p.A1400fs had the most severe phenotype (early-onset hypoglycaemia, massive hepatomegaly, myopathy and hypertrophic cardiomyopathy before age 2 years), which was not halted by aggressive carbohydrate and protein supplementation. Conversely, the only missense mutation identified in the cohort, p.D627Y, was associated with a mild phenotype. The phenotypic diversity in our GSD III cohort is mirrored by the allelic heterogeneity. We describe two novel null mutations in exon 32 in two families with severe GSD III resistant to current treatment modalities. Knowledge of the specific mutations segregating in this cohort may allow for the development of new therapeutic interventions.

  1. Decline in infection-related morbidities following drug-mediated reductions in the intensity of Schistosoma infection: A systematic review and meta-analysis.

    PubMed

    Andrade, Gisele; Bertsch, David J; Gazzinelli, Andrea; King, Charles H

    2017-02-01

    Since 1984, WHO has endorsed drug treatment to reduce Schistosoma infection and its consequent morbidity. Cross-sectional studies suggest pre-treatment correlation between infection intensity and risk for Schistosoma-related pathology. However, evidence also suggests that post-treatment reduction in intensity may not reverse morbidity because some morbidities occur at all levels of infection, and some reflect permanent tissue damage. The aim of this project was to systematically review evidence on drug-based control of schistosomiasis and to develop a quantitative estimate of the impact of post-treatment reductions in infection intensity on prevalence of infection-associated morbidity. This review was registered at inception with PROSPERO (CRD42015026080). Studies that evaluated morbidity before and after treatment were identified by online searches and searches of private archives. Post-treatment odds ratios or standardized mean differences were calculated for each outcome, and these were correlated to treatment-related egg count reduction ratios (ERRs) by meta-regression. A greater ERR correlated with greater reduction in odds of most morbidities. Random effects meta-analysis was used to derive summary estimates: after treatment of S. mansoni and S. japonicum, left-sided hepatomegaly was reduced by 54%, right-sided hepatomegaly by 47%, splenomegaly by 37%, periportal fibrosis by 52%, diarrhea by 53%, and blood in stools by 75%. For S. haematobium, hematuria was reduced by 92%, proteinuria by 90%, bladder lesions by 86%, and upper urinary tract lesions by 72%. There were no consistent changes in portal dilation or hemoglobin levels. In sub-group analysis, age, infection status, region, parasite species, and interval to follow-up were associated with meaningful differences in outcome. While there are challenges to implementing therapy for schistosomiasis, and praziquantel therapy is not fully curative, reductions in egg output are significantly correlated with

  2. Clinical features of severe malnutrition at the pediatric ward of Dr. Pirngadi Hospital Medan.

    PubMed

    Barus, S T; Rani, R; Lubis, N U; Hamid, E D; Tarigan, S

    1990-01-01

    A retrospective study on severe malnutrition concerning children hospitalized at the Pediatric ward of Dr. Pirngadi Hospital, Medan from January 1 to December 31, 1988 was conducted. Patients less than five years old were included in this study. The purpose of this study was to know the incidence of severe malnutrition, its symptoms and signs, the immunization status, feeding pattern and socio-economic factors. Out of the 3370 hospitalized patients, 2453 (72.78%) were children under five years old. Of these, 312 (12%) suffered from severe malnutrition. It consisted of marasmus 131 (41.9%), marasmic kwashiorkor 94 (30.1%) and kwashiorkor 87 (27.8%). The highest incidence was found in the age group of 0-2 years (58%). Clinical manifestation of marasmus were old man face (131 or 100%), muscular hypotrophy (118 or 71.9%) and decreased subcutaneous fat (116 or 71.1%) in marasmic kwashiorkor children 46 or 50% had their hair easily picked out, 45 or 46.3% showed hyperpigmentation and 48 or 52% had pretibial edema in the kwashiorkor group 29 or 63% had moon face, 52 or 60.4% showed crazy pavement dermatosis, 77 or 51.3% had hepatomegaly and 87 or 48% pretebial edema. Moon face was seen in 29 (63%), crazy Pavement Dermatosis in 52 (60.4%), hepatomegaly in 77 (51.3%), and pretebial edema in 87 (48%) of kwashiorkor cases. The accompanying diseases were mostly diarrhea (95%) and bronchopneumonia (22%). Immunization status showed that BCG comprised 50.6%, while DPT III and OPV III in 13.7% and 10.5% respectively and measles only 0.64%. More than half (59.6%) of them were breast-fed up to 6 months.(ABSTRACT TRUNCATED AT 250 WORDS)

  3. Sonography in the diagnosis and assessment of dengue Fever.

    PubMed

    Santhosh, V R; Patil, Prashanth G; Srinath, M G; Kumar, Ashok; Jain, Aditi; Archana, M

    2014-01-01

    The objective of the following study is to determine the use of ultrasound as an important adjunct to clinical and laboratory profile in diagnosing dengue fever and in predicting the severity of the disease by correlating imaging features with platelet count. The variation in sonographic features seen in patients from different age groups was also studied. This is a retrospective study. 96 patients who were serologically diagnosed as having dengue fever between April and August 2012 were referred for ultrasound scanning of the abdomen and thorax and the imaging findings were analyzed. Out of 96 sero-positive dengue cases, 64 (66.7%) patients showed edematous gallbladder (GB) wall thickening, 62 (64.5%) patients showed ascites, 48 (50%) patients had pleural effusion, 17 (17.7%) patients had hepatomegaly, 16 (16.7%) patients had splenomegaly and in 17 (17.7%) patients ultrasound findings were normal. Edematous GB wall thickening, ascites and pleural effusion were the most common combination of findings in all age groups. Edematous GB wall thickening was seen in 97.8% of patients with platelet count of less than 40,000 along with ascites (86.9%) and pleural effusion (58.6%). In patients with platelet count between 40,000 and 80,000 ascites was more common than edematous GB wall thickening. Significantly no abnormal sonographic finding was detected in patient with platelet count more than 150,000. Sonographic features of thickened GB wall, pleural effusion (bilateral or right side), ascites, hepatomegaly and splenomegaly should strongly favor the diagnosis of dengue fever in patients presenting with fever and associated symptoms, particularly during an epidemic. The degree of thrombocytopenia showed a significant direct relationship to abnormal ultrasound features.

  4. Risk factors for shock in children with dengue fever

    PubMed Central

    Pothapregada, Sriram; Kamalakannan, Banupriya; Thulasingham, Mahalakshmy

    2015-01-01

    Objectives: To evaluate and analyze the clinical and laboratory parameters that were predictive of the development of shock in children with dengue fever. Subjects and Methods: Retrospective study carried out from August 2012 to July 2014 at a tertiary care hospital in Puducherry. Results: Two hundred and fifty-four children were admitted with dengue fever and among them dengue fever without shock was present in 159 children (62.5%) and dengue fever with shock was present in 95 cases (37.4%). Various clinical and laboratory parameters were analyzed using univariate and multivariate logistic regression between the two groups and a P value of <0.05 was taken as significant. The most common risk factors for shock on univariate analysis were headache, retro-orbital pain, palmar erythema, joint pain, facial flush, splenomegaly, lymphadenopathy, bleeding, giddiness, persistent vomiting, pleural effusion, ascites, hematocrit >20% with concomitant platelet count <50,000/mm3 on admission, deranged liver function tests, and gallbladder wall edema. On multivariate analysis, it was seen that in age >6 years, hepatomegaly, pain in the abdomen, and oliguria were the most common risk factors associated with shock in children with dengue fever. There were six deaths (2.4%) and out of them four presented with impaired consciousness (66.6%) at the time of admission. Conclusion: Age >6 years, hepatomegaly, abdomen pain, and oliguria were the most common risk factors for shock in children with dengue fever. Impaired consciousness at admission was the most ominous sign for mortality in dengue fever. Hence, these features should be identified early, monitored closely, and managed timely. PMID:26730117

  5. Sonography in the Diagnosis and Assessment of Dengue Fever

    PubMed Central

    Santhosh, V. R.; Patil, Prashanth G.; Srinath, M. G.; Kumar, Ashok; Jain, Aditi; Archana, M.

    2014-01-01

    Objective: The objective of the following study is to determine the use of ultrasound as an important adjunct to clinical and laboratory profile in diagnosing dengue fever and in predicting the severity of the disease by correlating imaging features with platelet count. The variation in sonographic features seen in patients from different age groups was also studied. Materials and Methods: This is a retrospective study. 96 patients who were serologically diagnosed as having dengue fever between April and August 2012 were referred for ultrasound scanning of the abdomen and thorax and the imaging findings were analyzed. Results: Out of 96 sero-positive dengue cases, 64 (66.7%) patients showed edematous gallbladder (GB) wall thickening, 62 (64.5%) patients showed ascites, 48 (50%) patients had pleural effusion, 17 (17.7%) patients had hepatomegaly, 16 (16.7%) patients had splenomegaly and in 17 (17.7%) patients ultrasound findings were normal. Edematous GB wall thickening, ascites and pleural effusion were the most common combination of findings in all age groups. Edematous GB wall thickening was seen in 97.8% of patients with platelet count of less than 40,000 along with ascites (86.9%) and pleural effusion (58.6%). In patients with platelet count between 40,000 and 80,000 ascites was more common than edematous GB wall thickening. Significantly no abnormal sonographic finding was detected in patient with platelet count more than 150,000. Conclusion: Sonographic features of thickened GB wall, pleural effusion (bilateral or right side), ascites, hepatomegaly and splenomegaly should strongly favor the diagnosis of dengue fever in patients presenting with fever and associated symptoms, particularly during an epidemic. The degree of thrombocytopenia showed a significant direct relationship to abnormal ultrasound features. PMID:24744971

  6. Risk factors for shock in children with dengue fever.

    PubMed

    Pothapregada, Sriram; Kamalakannan, Banupriya; Thulasingham, Mahalakshmy

    2015-11-01

    To evaluate and analyze the clinical and laboratory parameters that were predictive of the development of shock in children with dengue fever. Retrospective study carried out from August 2012 to July 2014 at a tertiary care hospital in Puducherry. Two hundred and fifty-four children were admitted with dengue fever and among them dengue fever without shock was present in 159 children (62.5%) and dengue fever with shock was present in 95 cases (37.4%). Various clinical and laboratory parameters were analyzed using univariate and multivariate logistic regression between the two groups and a P value of <0.05 was taken as significant. The most common risk factors for shock on univariate analysis were headache, retro-orbital pain, palmar erythema, joint pain, facial flush, splenomegaly, lymphadenopathy, bleeding, giddiness, persistent vomiting, pleural effusion, ascites, hematocrit >20% with concomitant platelet count <50,000/mm(3) on admission, deranged liver function tests, and gallbladder wall edema. On multivariate analysis, it was seen that in age >6 years, hepatomegaly, pain in the abdomen, and oliguria were the most common risk factors associated with shock in children with dengue fever. There were six deaths (2.4%) and out of them four presented with impaired consciousness (66.6%) at the time of admission. Age >6 years, hepatomegaly, abdomen pain, and oliguria were the most common risk factors for shock in children with dengue fever. Impaired consciousness at admission was the most ominous sign for mortality in dengue fever. Hence, these features should be identified early, monitored closely, and managed timely.

  7. Conjugated Linoleic Triacylglycerols Exhibit Superior Lymphatic Absorption Than Free Conjugate Linoleic Acids and Have Antiobesity Properties.

    PubMed

    Woo, Hyunjoon; Chung, Min-Yu; Kim, Juyeon; Kong, Daecheol; Min, Jinyoung; Choi, Hee-Don; Choi, In-Wook; Kim, In-Hwan; Noh, Sang K; Kim, Byung Hee

    2016-05-01

    This study aimed to compare lymphatic absorption of conjugated linoleic acids (CLAs) in the triacylglycerol (TAG) or free fatty acid (FFA) form and to examine the antiobesity effects of different doses of CLAs in the TAG form in animals. Conjugated linoleic TAGs (containing 70.3 wt% CLAs; CLA-TAG) were prepared through lipase-catalyzed esterification of glycerol with commercial CLA mixtures (CLA-FFA). Lymphatic absorption of CLA-TAG and CLA-FFA was compared in a rat model of lymphatic cannulation. Greater amounts of cis-9,trans-11 and trans-10,cis-12 CLAs were detected in the collected lymph from a lipid emulsion containing CLA-TAG. This result suggests that CLA-TAG has greater capacity for lymphatic absorption than does CLA-FFA. The antiobesity efficacy of CLA-TAG at different doses was examined in mice with diet-induced obesity. A high-fat diet (HFD) for 12 weeks caused a significant increase in body weight and epididymal and retroperitoneal fat weights, which were significantly decreased by 2% dietary supplementation (w/w) with CLA-TAG. CLA-TAG at 2% significantly attenuated the HFD-induced upregulation of serum TAG, but led to hepatomegaly and exacerbated HFD-induced hypercholesterolemia. CLA-TAG at 1% significantly attenuated upregulation of retroperitoneal fat weight and significantly increased liver weight, which was decreased by the HFD. Nonetheless, the liver weight in group "HFD +1% CLA-TAG" was not significantly different from that of normal diet controls. CLA-TAG at 1% significantly reduced serum TAG levels and did not exacerbate HFD-induced hypercholesterolemia. Thus, 1% dietary supplementation with CLA-TAG reduces retroperitoneal fat weight without apparent hepatomegaly, a known side-effect of CLAs in mouse models of obesity.

  8. Hepatobiliary diseases in patients with human immunodeficiency virus (HIV) treated with non highly active anti-retroviral therapy: frequency and clinical manifestations.

    PubMed

    Lizardi-Cervera, Javier; Soto Ramírez, Luis E; Poo, Jorge Luis; Uribe, Misael

    2005-01-01

    To evaluate the frequency of hepatobiliary diseases and the clinical manifestations in patients with HIV treated with non highly active anti-retroviral therapy. Seven hundred clinical records of patients with HIV infection who entered the Instituto Nacional de Ciencias Médicas y de la Nutrición Salvador Zubirán from January 1987 to December 1996 were reviewed. All patients with alterations associated to hepatobiliary disease and/or liver function tests derangement throughout the clinical development of their disease were included. Demographic variables, date of diagnosis and clinical stage of the disease, as well as the presentation forms, diagnostic approach and image studies were analyzed. One hundred and sixty-one patients (22.8%) with hepatobiliary manifestations were found. The average time between the HIV diagnosis and the presentation of hepatic manifestations was 2-12 years. The majority of patients 124/161 (77%) did not show clinical signs of liver damage. The diagnostic suspicion was established by the presence of alkaline phosphatase above normal in 29% and alkaline phosphatase plus aminotransferases above normal in 45%. Hepatomegaly and jaundice were present in 18% and 4% of the patients, respectively. The most frequent ultrasonographic diagnosis were hepatomegaly (40%) and steatosis (30%). Liver biopsies were performed in 85 (51%) of the patients. The main histologic diagnoses were granulomatous hepatitis (29%), steatosis plus granulomatous hepatitis (19.5%), and steatosis alone (14.6%). Microorganisms were isolated in 27.9% being the most frequent Mycobacterium tuberculosis (26.6%), Histoplasma capsulatum (20%), Cytomegalovirus (13.3%), and Mycobacterium avium intracellulare (11%). The HBsAg was positive in 21 of the 69 patients (30.4%). The clinical presentation was asymptomatic in most of cases and the main etiology could be explained by the presence of associated infections, granulomatoses and liver steatosis.

  9. Anti-diabetic and hypolipidemic effects of Sargassum yezoense in db/db mice

    SciTech Connect

    Kim, Su-Nam; Lee, Woojung; Bae, Gyu-Un; Kim, Yong Kee

    2012-08-10

    Highlights: Black-Right-Pointing-Pointer Sargassum yezoense (SY) treatment improved glucose and lipid impairment in vivo. Black-Right-Pointing-Pointer This pharmacological action is associated with PPAR{alpha}/{gamma} dual activation. Black-Right-Pointing-Pointer It decreases the expression of G6Pase for gluconeogenesis in liver. Black-Right-Pointing-Pointer It increases the expression of UCP3 for lipid metabolism in adipose tissue. Black-Right-Pointing-Pointer There are no significant side effects such as body weight gain and hepatomegaly. -- Abstract: Peroxisome proliferator-activated receptors (PPARs) have been considered to be desirable targets for metabolic syndrome, even though their specific agonists have several side effects including body weight gain, edema and tissue failure. Previously, we have reported in vitro effects of Sargassum yezoense (SY) and its ingredients, sargaquinoic acid (SQA) and sargahydroquinoic acid (SHQA), on PPAR{alpha}/{gamma} dual transcriptional activation. In this study, we describe in vivo pharmacological property of SY on metabolic disorders. SY treatment significantly improved glucose and lipid impairment in db/db mice model. More importantly, there are no significant side effects such as body weight gain and hepatomegaly in SY-treated animals, indicating little side effects of SY in liver and lipid metabolism. In addition, SY led to a decrease in the expression of G6Pase for gluconeogenesis in liver responsible for lowering blood glucose level and an increase in the expression of UCP3 in adipose tissue for the reduction of total and LDL-cholesterol level. Altogether, our data suggest that SY would be a potential therapeutic agent against type 2 diabetes and related metabolic disorders by ameliorating the glucose and lipid metabolism.

  10. Weight change therapy as a potential treatment for end-stage ovarian carcinoma

    PubMed Central

    Oshakbayev, Kuat Pernekulovich; Alibek, Kenneth; Ponomarev, Igor Olegovich; Uderbayev, Nurlybek Nurlanovich; Dukenbayeva, Bibazhar Abayevna

    2014-01-01

    Patient: Female, 41 Final Diagnosis: Ovarian carcinoma Symptoms: Ascites • hepatomegaly • weight loss Medication: — Clinical Procedure: — Specialty: Oncology Objective: Unusual or unexpected effect of treatment Background: The aim of this case report is to present the results of treatment of end-stage ovarian carcinoma in a 41-year-old women using weight loss therapy. Case Report: We describe the case of a female aged 41 years with epithelial invasive ovarian cancer of III–IV stage, T3N2M1. Concurrent diseases were: abdominal carcinomatosis; hepatomegaly; ascites; condition after laparocentesis and skin-abdominal fistula; condition after 6 courses of neo-adjuvant polychemotherapy; hypertension II stage, risk factor of 3–4; dyslipidemia; and metabolic syndrome. A weight loss method based on a very-low-calorie diet and physical activity was used. Body weight was reduced from 74 kg to 53 due to loss of adipose tissue after 6 months of therapy. At the same time, the percentages of water and muscle tissue were increased significantly. While overweight was reducing, clinical, laboratory, and instrumental results were improving. As a result of the weight loss therapy, about ≈100 mm-sized ovarian cancer was transformed into smaller-sized ovarian cysts. Conclusions: An analgesic effect was also achieved without use of narcotic or non-narcotic analgesics. These cyto-reversible processes were documented by laboratory and instrumental data. The mechanisms behind these differences remain to be elucidated. Future research with a larger study cohort and longer follow-up is needed to further investigate the role of caloric restriction diet in cancer cell changes in ovarian cancer. PMID:24847411

  11. Osteoarticular involvement in childhood brucellosis: experience with 133 cases in an endemic region.

    PubMed

    Bosilkovski, Mile; Kirova-Urosevic, Valerija; Cekovska, Zaklina; Labacevski, Nikola; Cvetanovska, Marija; Rangelov, Goran; Cana, Fadilj; Bogoeva-Tasevska, Suncica

    2013-08-01

    To describe the main clinical and laboratory characteristics, frequency and distribution of osteoarticular involvement, therapeutic options and outcome in children with osteoarticular brucellosis. This descriptive study includes 133 pediatric patients with osteoarticular brucellosis who were treated at the University Clinic for Infectious Diseases and Febrile Conditions in Skopje, Republic of Macedonia, during the period between 1989 and 2011. Brucellosis was presumptively diagnosed on the basis of clinical signs and confirmed by the detection of specific antibodies at significant titers. The median age of patients was 9 years (range, 2-14 years) and 63.9% were males. Family history of brucellosis was present in 54.1%. The dominant clinical symptoms were arthralgia and fever in 77.4% and 73.7%, respectively, and the dominant sign was hepatomegaly in 73.7% of patients. The main laboratory abnormalities were elevated C-reactive protein (81.0%) and circulating immunocomplexes (80.7%). In 71.4% of patients, the osteoarticular involvement was monoarticular. Hip arthritis was present in 49.6%, followed by the knee in 30.1%. Various therapeutic regimens with a duration of 6 weeks were used. In 87 patients during a follow-up of at least 6 months, relapse occurred in 13.8%. Osteoarticular involvement is frequent in children with brucellosis. It is most often manifested with monoarthritis of the large weight-bearing joints. Brucellosis should be included in the differential diagnosis of childhood arthritis in endemic countries, especially in the presence of family history, contact with infected animals or ingestion of unpasteurized food products, fever and hepatomegaly.

  12. Clinico-epidemiological study of Schistosomiasis mansoni in Waja-Timuga, District of Alamata, northern Ethiopia.

    PubMed

    Abebe, Nigus; Erko, Berhanu; Medhin, Girmay; Berhe, Nega

    2014-04-01

    Intestinal schistosomiasis, caused by digenetic trematodes of the genus Schistosoma, is the most prevalent water related disease that causes considerable morbidity and mortality. Although prevalence of Schistosoma mansoni infection has been reported for the present study area, earlier studies have not estimated intensity of infections in relation to periportal fibrosis, which would have been crucial for epidemiological and clinical evaluations. Hence, a community based cross sectional study was conducted from December 2011 to March 2012 to assess prevalence of infection and schistosomal periportal fibrosis in Waja-Timuga, northern Ethiopia. In a cross sectional study involving 371 randomly selected individuals, fresh stool samples were collected and processed by the Kato-Katz method and examined microscopically. Ultrasonography was used to determine status of schistosomal periportal fibrosis and to detect hepatomegaly and/or splenomegaly. Serum was collected for assay of hepatic activity. Statistical analysis was performed using STATA 11 statistical soft ware. P-value <0.05 was reported as statistically significant. The prevalence of S.mansoni infection was 73.9%, while the prevalence of schistosomal periportal fibrosis was 12.3% and mean intensity of infection was 234 eggs per gram of stool. Peak prevalence and intensity of S.mansoni infection was documented in the age range of 10-20 years. Among the study individuals, hepatomegaly was recorded in 3.7% and splenomegaly was recorded in 7.4% of the study individuals. Similarly, among the study individuals who had definite periportal fibrosis, 5.9% had elevated liver enzyme levels. The high prevalence of Schistosoma mansoni infection and schistosomal periportal fibrosis observed in the study area calls for a periodic deworming program to reduce disease, morbidity and transmission. Preventive chemotherapy complemented with other control measures is highly required for sustainable control of schistosomiasis in the

  13. [Autoimmune lymphoproliferative syndrome: a case report and literature review].

    PubMed

    Sun, Jia-peng; Lu, Xin-tian; Zhao, Wei-hong; Hua, Ying

    2015-12-18

    We described 1 case of autoimmune lymphoproliferative syndrome (ALPS), first diagnosed in our hospital, and reviewed the recent literature. The 11-month old male patient presented with a history of splenomegaly and hepatomegaly since 1 month after birth. He suffered recurrent infectious diseases including cytomegalovirus infection, parvovirus B19 infection and chronic diarrhea disease. Besides, his symptoms included hemolytic anemia and thrombocytopenia. The laboratory abnormality indicated an expanded population of alpha/beta double-negative T cells (DNTs) (27.18% of lymphocytes, 35.16% of CD3+ T lymphocytes) in peripheral blood, and autoantibodies including antinuclear antibody, double-stranded DNA and rheumatic factor were positive. Hyper gamma globulinemia and positive direct Coombs tests were seen in the patient. His parents were both healthy and denied autoimmune diseases. We identified a heterozygous point mutation in exon 3 of the FAS gene carrying c.309 A>C, resulting in a single base pair substitution in exon 3 of FAS gene which changed the codon of Arg103 to Ser103. Unfortunately, we were unable to obtain the gene results of the child's parents. The patient was treated with glucocorticoids in our hospital and with mycophenolatemofetil in other hospital. And we were informed that his anemia condition relieved through the telephone follow-up, but he still suffered recurrent infections, hepatomegaly and splenomegaly still existed. As we all know ALPS is characterized by defective lymphocyte apoptosis, and thus cause lymphoproliferative disease and autoimmune disease, and increase the risk of lymphoma. It is more likely to be misdiagnosed as other diseases. ALPS should be suspected in the case of chronic lymphadenopathy, splenomegaly and autoimmune features. Flow cytometry approach is helpful for the diagnosis. Immunosuppressive drugs are the necessary treatment.

  14. Seroprevalence of avian hepatitis E virus and avian leucosis virus subgroup J in chicken flocks with hepatitis syndrome, China.

    PubMed

    Sun, Yani; Du, Taofeng; Liu, Baoyuan; Syed, Shahid Faraz; Chen, Yiyang; Li, Huixia; Wang, Xinjie; Zhang, Gaiping; Zhou, En-Min; Zhao, Qin

    2016-11-22

    From 2014 to 2015 in China, many broiler breeder and layer hen flocks exhibited a decrease in egg production and some chickens developed hepatitis syndrome including hepatomegaly, hepatic necrosis and hemorrhage. Avian hepatitis E virus (HEV) and avian leucosis virus subgroup J (ALV-J) both cause decreasing in egg production, hepatomegaly and hepatic hemorrhage in broiler breeder and layer hens. In the study, the seroprevalence of avian HEV and ALV-J in these flocks emerging the disease from Shandong and Shaanxi provinces were investigated. A total of 1995 serum samples were collected from 14 flocks with hepatitis syndrome in Shandong and Shaanxi provinces, China. Antibodies against avian HEV and ALV-J in these serum samples were detected using iELISAs. The seroprevalence of anti-avian HEV antibodies (35.09%) was significantly higher than that of anti-ALV-J antibodies (2.16%) (p = 0.00). Moreover, the 43 serum samples positive for anti-ALV-J antibodies were all also positive for anti-avian HEV antibodies. In a comparison of both provinces, Shandong chickens exhibited a significantly higher seroprevalence of anti-avian HEV antibodies (42.16%) than Shaanxi chickens (26%) (p = 0.00). In addition, the detection of avian HEV RNA and ALV-J cDNA in the liver samples from the flocks of two provinces also showed the same results of the seroprevalence. In the present study, the results showed that avian HEV infection is widely prevalent and ALV-J infection is endemic in the flocks with hepatitis syndrome from Shandong and Shaanxi provinces of China. These results suggested that avian HEV infection may be the major cause of increased egg drop and hepatitis syndrome observed during the last 2 years in China. These results should be useful to guide development of prevention and control measures to control the diseases within chicken flocks in China.

  15. Negative screening tests in classical galactosaemia caused by S135L homozygosity.

    PubMed

    Crushell, E; Chukwu, J; Mayne, P; Blatny, J; Treacy, E P

    2009-06-01

    Classical galactosaemia is relatively common in Ireland due to a high carrier rate of the Q188R GALT mutation. It is screened for using a bacterial inhibition assay (BIA) for free galactose. A Beutler assay on day one of life is performed only in high risk cases (infants of the Traveller community and relatives of known cases). A 16-month-old Irish-born boy of Nigerian origin was referred for investigation of developmental delay, and failure to thrive. He had oral aversion to solids and his diet consisted of cow's milk and milk-based cereal mixes. He was found to have microcephaly, weight <2nd percentile, hepatomegaly and bilateral cataracts. Coagulation screen was normal and transaminases were slightly elevated. His original newborn screen was reviewed and confirmed to have been negative; urinary reducing substances on three separate occasions were negative. Beutler assay demonstrated "absent" red cell galactose-1-phosphate uridyltransferase (GALT) activity. GALT enzyme activity was <0.5 gsubs/h per gHb confirming classical galactosaemia. Gal-1-P was elevated at 1.88 micromol/gHb. Mutation analysis of the GALT gene revealed S135L homozygosity. S135L/S135L galactosaemia is associated with absent red cell GALT activity but with approximately 10% activity in other tissues such as the liver and intestines, probably explaining the negative screening tests and the somewhat milder phenotype associated with this genotype. The patient was commenced on galactose-restricted diet; on follow-up at 2 years of age, growth had normalized but there was global developmental delay. In conclusion, galactosaemia must be considered in children who present with poor growth, hepatomegaly, developmental delay and cataracts and GALT enzyme analysis should be a first line test in such cases. Non-enzymatic screening methods such as urinary reducing substances and BIA for free galactose are not reliable in S135L homozygous galactosaemia.

  16. Dengue Infection in Children in Ratchaburi, Thailand: A Cohort Study. II. Clinical Manifestations

    PubMed Central

    Sirivichayakul, Chukiat; Limkittikul, Kriengsak; Chanthavanich, Pornthep; Jiwariyavej, Vithaya; Chokejindachai, Watcharee; Pengsaa, Krisana; Suvannadabba, Saravudh; Dulyachai, Wut; Letson, G. William; Sabchareon, Arunee

    2012-01-01

    Background Dengue infection is one of the most important mosquito-borne diseases. More data regarding the disease burden and the prevalence of each clinical spectrum among symptomatic infections and the clinical manifestations are needed. This study aims to describe the incidence and clinical manifestations of symptomatic dengue infection in Thai children during 2006 through 2008. Study Design This study is a school-based prospective open cohort study with a 9,448 person-year follow-up in children aged 3–14 years. Active surveillance for febrile illnesses was done in the studied subjects. Subjects who had febrile illness were asked to visit the study hospital for clinical and laboratory evaluation, treatment, and serological tests for dengue infection. The clinical data from medical records, diary cards, and data collection forms were collected and analyzed. Results Dengue infections were the causes of 12.1% of febrile illnesses attending the hospital, including undifferentiated fever (UF) (49.8%), dengue fever (DF) (39.3%) and dengue hemorrhagic fever (DHF) (10.9%). Headache, anorexia, nausea/vomiting and myalgia were common symptoms occurring in more than half of the patients. The more severe dengue spectrum (i.e., DHF) had higher temperature, higher prevalence of nausea/vomiting, abdominal pain, rash, diarrhea, petechiae, hepatomegaly and lower platelet count. DHF cases also had significantly higher prevalence of anorexia, nausea/vomiting and abdominal pain during day 3–6 and diarrhea during day 4–6 of illness. The absence of nausea/vomiting, abdominal pain, diarrhea, petechiae, hepatomegaly and positive tourniquet test may predict non-DHF. Conclusion Among symptomatic dengue infection, UF is most common followed by DF and DHF. Some clinical manifestations may be useful to predict the more severe disease (i.e., DHF). This study presents additional information in the clinical spectra of symptomatic dengue infection. PMID:22389735

  17. Clinical manifestations of adolescents with HIV/AIDS in Jamaica.

    PubMed

    Harrison, A; Pierre, R B; Palmer, P; Moore, J; Davis, D; Dunkley-Thompson, J; Figueroa, J P; Christie, C D C

    2008-06-01

    To characterize the clinicopathological manifestations and outcomes of a cohort of HIV-infected Jamaican adolescents. This is a retrospective cohort study to determine demographic, clinical, immunological characteristics, antiretroviral uptake and mortality in 94 adolescents aged 10-19 years followed in the Kingston Paediatric and Perinatal HIV/AIDS Programme (KPAIDS) between September 2002 and May 2007. Parametric and non-parametric tests are used to compare variables. The median age at initial presentation was 10.0 years (interquartile range (IQR) 7.0-12.0 years), 54.3% (51) were female (p = 0.024), transmission was primarily mother-to-child (70, 73.4%), with 87% (61) of the latter presenting as slow progressors. Sexual transmission accounted for 19.1% and there was significant female predominance (n=15; p = 0.024). At most recent visit, perinatally infected adolescents were more likely (p < 0.0001) to reside with a non-parent (n=42) than a biological parent (n=19) and most had Centers for Disease Control and Prevention (CDC) category C (35/50%) disease, whereas the majority of non-perinatally infected children were classified CDC category A. Mean z scores for height-for-age was -1.47 +/- 1.21 (n=77), weight-for-age -1.06 +/- 1.44 (n=80) and BMI-for-age -0.34 +/- 1.21 (n=76) respectively; females (n=41) were taller than males (n=36) at their current height (p = 0.031). Lymphadenopathy (82%), dermatitis (72.0%), hepatomegaly (48%) and parotitis (48%) were the most common clinical manifestations, with significant predilection for lymphadenopathy (p < or = 0.0001), dermatitis (p = 0.010), splenomegaly (p = 0.008), hepatomegaly (p = 0.001) and parotitis (p = 0.007) among perinatally infected children. Median baseline CD4+ cell count was 256.0/microL (IQR 71.0 - 478.0 cells/microL); median most recent CD4+ cell count was 521/microL (IQR 271.0 - 911.0 cells/microL). Seventy-six per cent (n=71) were initiated with highly active antiretroviral therapy (HAART) and 62 (87

  18. Multiparasitism and intensity of helminth infections in relation to symptoms and nutritional status among children: a cross-sectional study in southern Lao People's Democratic Republic.

    PubMed

    Sayasone, Somphou; Utzinger, Jürg; Akkhavong, Kongsap; Odermatt, Peter

    2015-01-01

    The occurrence and spatial distribution of intestinal helminth infection in children is fairly well understood. However, knowledge on how helminth infections govern intestinal morbidity is scarce. We conducted a cross-sectional study to assess and quantify the relationship between single and multiple species helminth infection with clinical and self-reported morbidity indicators and nutritional status in Champasack province, southern Lao People's Democratic Republic (Lao PDR). A random sample of 1313 children, aged 6 months to 12 years, from villages in nine rural districts were enrolled and examined for helminth infection using duplicate Kato-Katz thick smears. Morbidity was assessed by self-reported symptoms, coupled with clinical examination and appraisal of nutritional status and anaemia. Bivariate and multivariate logistic regression was employed to study associations between helminth infection and morbidity indicators and anaemia. We found considerable morbidity among the surveyed children, including hepatomegaly (13.7%), pale conjunctiva (13.2%) and abdominal pain (10.4%). Anaemia was recorded in 60.4% of the children, whilst signs of stunting and low body mass index (BMI) were observed in 49.8% and 33.3% of the surveyed children, respectively. Hookworm and Opisthorchis viverrini were the predominant helminth species with prevalences of 51.0% and 43.3%, respectively. The prevalence of Schistosoma mekongi in the surveyed children was 5.6%. Multiple species helminth infections were recorded in 40.4% of the study cohort. Morbidity was associated with specific helminth species infection (e.g. S. mekongi with hepatomegaly; adjusted odds ratio (aOR): 9.49, 95% confidence interval (CI): 2.07-43.51) and multiparasitism (e.g. two or more helminth species with abdominal pain; aOR: 2.40, 95% CI: 1.46-3.93). Anaemia was associated with hookworm infection (aOR: 1.64, 95% CI: 1.16-2.34) and multiparasitism (aOR: 1.64, 95% CI: 1.18-2.29). Low BMI was associated with O

  19. Mucopolysaccharidosis type I.

    PubMed

    Wraith, J E; Jones, Simon

    2014-09-01

    Mucopolysaccharidosis type I (MPS I) is caused by a deficiency of the lysosomal hydrolase a-L-Iduronidase leading to accumulation of the GAGs, dermatan sulfate, and heparan sulphate, The disease spectrum includes a disorder with severe involvement and CNS disease Hurler disease (HPS I H) a chronic disease without CNS disease Scheie disease (HPS I S5) and the intermediate Hurler/Scheie disease(HPS I HIS).The urine GAGs pattern. confirmed by Iduronidase enzyme assay is diagnostic. Over 200 mutations exist. Genotype / phenotype correlation is poor but two nonsense mutations results in Hurler disease.The skeletal disease dysostosis multiplex (DM) is seen in severe variants of MPS I. The hypoplastic odontoid putting these patients at high risk of cervical cord damage. MPS IH (Hurler Disease) affected infants develop a spinal 'gibbus' deformity, persistent nasal discharge, middle ear effusions and frequent upper respiratory infection. They have "coarse", facial features, and an enlarged tongue. . Progressive upper airway disease leads to obstructive sleep apnoea. Corneal clouding and cognitive impairment appears, growth ceases. Joint stiffness and contractures limit mobility. Cardiac disease is universal. Death occurs before 10 years. SCHEIE patients are diagnosed as teenagers with hepatomegaly, joint contractures, cardiac valve abnormalities and corneal clouding . Prolonged survival with considerable disability without cognitive impairment is usual. MPS IH/S Hurler/Scheie. is diagnosed by 6.5 years, with variable skeletal and visceral manifestations without cognitive involvement. Joint stiffness, corneal clouding, , umbilical hernia, abnormal facies, hepatomegaly, joint contractures, and cervical myelopathy occur. Patients die in their 20s .Haematopoietic stem cell transplantation (HSCT) the standard treatment of MPS IH for 30 years is unpredictable .When performed before 2 years it can stabilize cognitive impairment. Hepatosplenomegaly, urine GAGs excretion, upper

  20. Immunotoxicity of 2,3,7,8-tetrachlorodibenzo-p-dioxin in a complex environmental mixture from the Love Canal

    SciTech Connect

    Silkworth, J.B.; Cutler, D.S.; Sack, G.

    1989-02-01

    The organic phase of the leachate (OPL) from the Love Canal chemical dump site contains more than 100 organic compounds including 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD). The immunotoxic potential of OPL was determined in two mouse strains which differ in their sensitivity to aromatic hydrocarbon (Ah) receptor-mediated toxicity. OPL was administered in corn oil in a single oral gavage to male BALB/cByJ (Ahb/Ahb) mice (0.5, 0.8, or 1.1 g/kg) and DBA/2J (Ahd/Ahd) mice (0.6, 0.9, or 1.3 g/kg). TCDD was similarly administered at 0.25, 1.0, 4.0, or 16.0 micrograms/kg. Two days later all mice were immunized with sheep erythrocytes (SRBC). The antibody response (PFC) and organ weights were evaluated 4 days later. OPL produced thymic atrophy and hepatomegaly in both strains at all dose levels. The PFC/spleen in BALB/cByJ mice was significantly reduced at the three doses to 34, 13, and 15%, respectively, of the control response. Serum anti-SRBC antibody levels and relative spleen weights were also reduced. The only immune effect in the DBA/2J mice was a decrease of the PFC/spleen to 58% of the control at the highest dose. TCDD decreased the relative thymus and spleen weights only in BALB/cByJ mice. However, TCDD produced hepatomegaly, a decrease in serum antibody, and a decrease in PFC/spleen in both BALB/cByJ and DBA/2J mice to 3 and 15%, respectively, at 16 micrograms/kg. Thus, the TCDD dose required to cause a 50% suppression (ED50) of PFC/spleen for the BALB/cByJ and DBA/2J strains was 1.84 and 3.89 micrograms/kg, respectively. The ED50 for OPL was 0.24 g/kg in BALB/cByJ mice. The TCDD concentration in the OPL was estimated to be 7.6 ppm, which agrees closely with the chemical analysis (3 ppm).

  1. Decline in infection-related morbidities following drug-mediated reductions in the intensity of Schistosoma infection: A systematic review and meta-analysis

    PubMed Central

    Andrade, Gisele; Bertsch, David J.; Gazzinelli, Andrea

    2017-01-01

    Background Since 1984, WHO has endorsed drug treatment to reduce Schistosoma infection and its consequent morbidity. Cross-sectional studies suggest pre-treatment correlation between infection intensity and risk for Schistosoma-related pathology. However, evidence also suggests that post-treatment reduction in intensity may not reverse morbidity because some morbidities occur at all levels of infection, and some reflect permanent tissue damage. The aim of this project was to systematically review evidence on drug-based control of schistosomiasis and to develop a quantitative estimate of the impact of post-treatment reductions in infection intensity on prevalence of infection-associated morbidity. Methodology/Principal findings This review was registered at inception with PROSPERO (CRD42015026080). Studies that evaluated morbidity before and after treatment were identified by online searches and searches of private archives. Post-treatment odds ratios or standardized mean differences were calculated for each outcome, and these were correlated to treatment-related egg count reduction ratios (ERRs) by meta-regression. A greater ERR correlated with greater reduction in odds of most morbidities. Random effects meta-analysis was used to derive summary estimates: after treatment of S. mansoni and S. japonicum, left-sided hepatomegaly was reduced by 54%, right-sided hepatomegaly by 47%, splenomegaly by 37%, periportal fibrosis by 52%, diarrhea by 53%, and blood in stools by 75%. For S. haematobium, hematuria was reduced by 92%, proteinuria by 90%, bladder lesions by 86%, and upper urinary tract lesions by 72%. There were no consistent changes in portal dilation or hemoglobin levels. In sub-group analysis, age, infection status, region, parasite species, and interval to follow-up were associated with meaningful differences in outcome. Conclusion/Significance While there are challenges to implementing therapy for schistosomiasis, and praziquantel therapy is not fully

  2. [GASTROINTESTINAL INVOLVEMENT IN HUMAN BARTONELLOSIS

    PubMed

    Maguiña, Ciro; Gotuzzo, Eduardo; Carcelén, Amador; Salinas, César; Cok, Jaime; Recavarren, Sixto; Bussalleu, Alejandro

    1997-01-01

    We present a prospective study of 68 patients with the acute phase of human bartonellosis, admitted to Cayetano Heredia National Hospital.Gastrointestinal symptoms were reported as follows: abdominal pain 46,3%, coluria 44,4%, vomiting 40,3%, jaundice 38,5%, diarrhea 29,9%, constipation 8,9%. The more common signs were pallor 97%, hepatomegaly 82%, fever 79,1%, malnutrition 75,2%, systolic heart murmur 77,9%, jaundice 71,6%, lymph node enlargement 70,1%.Signs observed during the hospital course were 29,4% lower extremities edema, 22,6% myalgia, 16,4% pericardial effusion, 16,4% generalized edema. The more common gastrointestinal signs were hepatomegaly 82%(52/68), jaundice 71,6% (48/68) and splenomegaly 29,4%(20/68).The -lower liver border was found between 1 to 4 below the lower rib border in 71,6%(48/67) and below 5 cm b. l. r. b. in 11,9%(8/67).60% had abnormal liver function tests, 54,6% had mainly direct bilirrubin elevationand 45,4% mainly indirect.SGOT was elevated in 28,5% and SGPT in 25%, 28,3% had elevated alkaline phosphatase. The bilirrubin media was 3,5 mg/dI (range 0,6-21), the indirect bilirrubin media was 1,6 mg/dI (range 0,5-11,5), the direct bilirrubin media was 1,9 mg/dI (range 0,3-18), The SGOT media 73,9 U/L (range 9-1250), SGPT media 65,5U/L (range 6-1596). Alkaline phosphatase 5,9 mui/ml (range 3-497). Albumin media 3,09 (range 2-4,2).Patients with bacterial coinfection (salmonella, staphilococcus, enterobacter, shigella) had a higher increase in bilirrubin and transaminases.Three patients had liver biopsies, two revealed Küpffer cells hyperplasia (moderate to severe), one revealed intracellular hyperplasia, one patient coinfected with diseminated hystoplasmosis had granulomas in the liver.Mortality(8,8%) was associated to hepatocellular involvement (SGOT media 330U/L, SGPT media 207 U/L, alkaline phosphatase media 183 mui/ml), hypoalbuminemia media = 2,4 gr/1) and generalized edema.

  3. Everolimus halts hepatic cystogenesis in a rodent model of polycystic-liver-disease.

    PubMed

    Temmerman, Frederik; Chen, Feng; Libbrecht, Louis; Vander Elst, Ingrid; Windmolders, Petra; Feng, Yuanbo; Ni, Yicheng; De Smedt, Humbert; Nevens, Frederik; van Pelt, Jos

    2017-08-14

    To develop a MRI-based method for accurate determination of liver volume (LV) and to explore the effect of long-term everolimus (EVR) treatment on LV in PCK rats with hepatomegaly. Thirty-one female PCK rats (model for polycystic-liver-disease: PCLD) were randomized into 3 groups and treatment was started at 16 wk, at the moment of extensive hepatomegaly (comparable to what is done in the human disease). Animals received: controls (n = 14), lanreotide (LAN: 3 mg/kg per 2 wk) (n = 10) or everolimus (EVR: 1 mg/kg per day) (n = 7). LV was measured at week 16, 24, 28. At week 28, all rats were sacrificed and liver tissue was harvested. Fibrosis was evaluated using quantitative image analysis. In addition, gene (quantitative RT-PCR) and protein expression (by Western blot) of the PI3K/AkT/mTOR signaling pathway was investigated. LV determination by MRI correlated excellent with the ex vivo measurements (r = 0.99, P < 0.001). The relative changes in LV at the end of treatment were: (controls) +31.8%; (LAN) +5.1% and (EVR) +8.8%, indicating a significantly halt of LV progression compared with controls (respectively, P = 0.01 and P = 0.04). Furthermore, EVR significantly reduced the amount of liver fibrosis (P = 0.004) thus might also prevent the development of portal hypertension. There was no difference in phosphorylation of Akt (Threonine 308) between LAN-treated PCK rats control PCK rats, whereas S6 was significantly more phosphorylated in the LAN group. Phosphorylation of Akt was not different between controls and EVR treated rats, however, for S6 there was significantly less phosphorylation in the EVR treated rats. Thus, both drugs interact with the PI3K/AkT/mTOR signaling cascade but acting at different molecular levels. Everolimus halts cyst growth comparable to lanreotide and reduces the development of fibrosis. mTOR-inhibition should be further explored in PCLD patients especially those that need immunosuppression.

  4. Ultrasonographic and clinicopathologic features of segmental dilatations of the common bile duct in four cats

    PubMed Central

    Spain, Heather N; Penninck, Dominique G; Webster, Cynthia RL; Daure, Evence; Jennings, Samuel H

    2017-01-01

    Case series summary This case series documents ultrasonographic and clinicopathologic features of four cats with marked segmental dilatations of the common bile duct (CBD). All cats had additional ultrasonographic changes to the hepatobiliary system, including hepatomegaly, tubular to saccular intra/extrahepatic biliary duct dilatation and biliary debris accumulation. Based on all available data the presence of extrahepatic biliary duct obstruction (EHBDO) was ruled out in 3/4 cases and was equivocal in one case. One cat underwent re-routing surgery to address the CBD dilatation after multiple recurrent infections, one cat was euthanized and had a post-mortem examination and two cats were medically managed with antibiotics, liver protectants, gastroprotectants and cholerectics. Relevance and novel information The ultrasonographic features of the CBD in this population of cats were supportive of choledochal cysts (CCs). The maximal diameter of the CBD dilatations exceeded 5 mm in all cases, a sign that has been previously reported to be consistent with EHBDO. In our study, dilatations were segmental rather than diffuse. Given the high morbidity and mortality associated with hepatobiliary surgery in cats, segmental dilatation of the CBD should not prompt emergency surgery. Some cats may respond to medical management. Careful planning for cyst resection was beneficial in one cat. Evaluation of CC morphology (eg, size, location, concurrent intrahepatic anomalies) may assist in selecting cats that could benefit from surgical intervention. PMID:28680700

  5. Clinical and Virologic Manifestations of Primary Epstein-Barr Virus (EBV) Infection in Kenyan Infants Born to HIV-Infected Women

    PubMed Central

    Slyker, Jennifer A.; Casper, Corey; Tapia, Kenneth; Richardson, Barbra; Bunts, Lisa; Huang, Meei-Li; Maleche-Obimbo, Elizabeth; Nduati, Ruth; John-Stewart, Grace

    2013-01-01

    Background. Human immunodeficiency virus (HIV) infection is a risk factor for Epstein-Barr virus (EBV)–associated lymphomas. Characterizing primary infection may elucidate risk factors for malignancy. Methods. To describe clinical and virologic manifestations of primary EBV infection among infants born to HIV-infected women, specimens were utilized from a cohort study conducted in Nairobi, Kenya. HIV and EBV viral loads were measured serially in plasma. EBV serology was performed on EBV DNA–negative infants. Monthly clinical examinations were performed by pediatricians. Results. The probability of EBV infection by 1 year of age was .78 (95% CI, .67–.88) in HIV-infected and .49 (95% CI, .35–.65) in HIV-uninfected infants (P < .0001). At 2 years, probability of EBV infection was .96 (95% CI, .89–.99) in HIV-infected infants. Peak EBV loads were higher in HIV-infected versus HIV-uninfected infants (median 2.6 vs 2.1 log10 copies/mL; P < .0001). The majority of HIV-infected infants had detectable EBV DNA for >3 months (79%). Primary EBV infection was associated with cough, fever, otitis media, pneumonia, hepatomegaly, splenomegaly, and hospitalization in HIV-infected infants; conjunctivitis and rhinorrhea in HIV-uninfected infants. Conclusions. EBV infection occurs early in infants born to HIV-infected women. HIV infection was associated with more frequent and higher quantity EBV DNA detection. PMID:23493724

  6. Clinical and virologic manifestations of primary Epstein-Barr virus (EBV) infection in Kenyan infants born to HIV-infected women.

    PubMed

    Slyker, Jennifer A; Casper, Corey; Tapia, Kenneth; Richardson, Barbra; Bunts, Lisa; Huang, Meei-Li; Maleche-Obimbo, Elizabeth; Nduati, Ruth; John-Stewart, Grace

    2013-06-15

    Human immunodeficiency virus (HIV) infection is a risk factor for Epstein-Barr virus (EBV)-associated lymphomas. Characterizing primary infection may elucidate risk factors for malignancy. To describe clinical and virologic manifestations of primary EBV infection among infants born to HIV-infected women, specimens were utilized from a cohort study conducted in Nairobi, Kenya. HIV and EBV viral loads were measured serially in plasma. EBV serology was performed on EBV DNA-negative infants. Monthly clinical examinations were performed by pediatricians. The probability of EBV infection by 1 year of age was .78 (95% CI, .67-.88) in HIV-infected and .49 (95% CI, .35-.65) in HIV-uninfected infants (P < .0001). At 2 years, probability of EBV infection was .96 (95% CI, .89-.99) in HIV-infected infants. Peak EBV loads were higher in HIV-infected versus HIV-uninfected infants (median 2.6 vs 2.1 log10 copies/mL; P < .0001). The majority of HIV-infected infants had detectable EBV DNA for >3 months (79%). Primary EBV infection was associated with cough, fever, otitis media, pneumonia, hepatomegaly, splenomegaly, and hospitalization in HIV-infected infants; conjunctivitis and rhinorrhea in HIV-uninfected infants. EBV infection occurs early in infants born to HIV-infected women. HIV infection was associated with more frequent and higher quantity EBV DNA detection.

  7. Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations.

    PubMed

    Lu, Chaoxia; Qiu, Zhengqing; Sun, Miao; Wang, Wei; Wei, Min; Zhang, Xue

    2016-07-01

    Glycogen storage disease type III (GSD III), a rare autosomal recessive disease characterized by hepatomegaly, fasting hypoglycemia, growth retardation, progressive myopathy and cardiomyopathy, is caused by deficiency of the glycogen debranching enzyme (AGL). Direct sequencing of human AGL cDNA and genomic DNA has enabled analysis of the underlying genetic defects responsible for GSD III. To date, the frequent mutations in different areas and populations have been described in Italy, Japan, Faroe Islands and Mediterranean area, whereas little has been performed in Chinese population. Here we report a sequencing-based mutation analysis in 43 Chinese patients with GSD III from 41 families. We identified 51 different mutations, including 15 splice-site (29.4%), 11 small deletions (21.6%), 12 nonsense (23.5%), 7 missense (13.7%), 5 duplication (9.8%) and 1 complex deletion/insertion (2.0%), 31 of which are novel mutations. The most common mutation is c.1735+1G>T (11.5%). The association of AGL missense and small in-frame deletion mutations with normal creatine kinase level was observed. Our study extends the spectrum of AGL mutations and suggests a genotype-phenotype correlation in GSD III.

  8. Glycogen storage disease type IX and growth hormone deficiency presenting as severe ketotic hypoglycemia.

    PubMed

    Hodax, Juanita K; Uysal, Serife; Quintos, Jose Bernardo; Phornphutkul, Chanika

    2017-02-01

    Glycogen storage disease (GSD) type IX and growth hormone (GH) deficiency cause ketotic hypoglycemia via different mechanisms and are not known to be associated. We describe a patient presenting with severe ketotic hypoglycemia found to have both GSD IX and isolated GH deficiency. A 3-year-and-11-month-old boy with a history of prematurity, autism, developmental delay, seizures, and feeding difficulty was admitted for poor weight gain and symptomatic hypoglycemia. He was nondysmorphic, with a height of 93.8 cm (2%, -1.97 SDS), and has no hepatomegaly. He developed symptomatic hypoglycemia, with a serum glucose level of 37 mg/dL after 14 h of fasting challenge. Critical sample showed a GH of 0.24 ng/mL. GH provocative stimulation testing was done with a peak GH of 2.8 ng/mL. Brain magnetic resonance imaging showed a hypoplastic pituitary gland. Given the clinical symptoms, suspicion for mitochondrial disease was high. Dual Genome Panel by Massively Parallel Sequencing revealed a hemizygous variant c.721A>G (p1241V) in the X-linked PHKA2 gene, a causative gene for GSD IX. Red blood cell PhK enzyme activity testing was low, supporting the diagnosis. Given the patient's developmental delays that were not explained by GH deficiency alone, further investigation showed two unrelated conditions resulting in deranged metabolic adaptation to fasting leading to severe hypoglycemia.

  9. [Identification of a novel mutation of AGL gene in two siblings affected with glycogen storage disease type IIIa].

    PubMed

    Guo, Li; Lin, Weixia; Mao, Man; Song, Yuanzong

    2017-08-10

    To detect potential mutation of the AGL gene in two siblings affected with glycogen storage disease type IIIa. Clinical data of the two siblings was collected and analyzed. Genomic DNA was extracted from peripheral venous blood samples from the patients and their parents. All exons and their flanking sequences of the AGL gene were subjected to PCR amplification and Sanger sequencing. Suspected mutation was verified in 75 healthy controls. The main clinical features of the two siblings included hypoglycemia and hepatomegaly, along with markedly elevated liver and myocardial enzymes. Genetic analysis revealed that both siblings harbored compound heterozygous mutations c.1735+1G>T and c.959-1G>C of the AGL gene. Among these, the splicing mutation c.959-1G>C was a novel one with an allele frequency of <1%. Based on their clinical features and genetic analysis, the siblings were diagnosed with glycogen storage disease type IIIa. The c.959-1G>C has enriched the spectrum of AGL gene mutations.

  10. Three novel mutations of the G6PC gene identified in Chinese patients with glycogen storage disease type Ia.

    PubMed

    Zheng, Bi-Xia; Lin, Qian; Li, Mei; Jin, Yu

    2015-01-01

    Glycogen storage disease type Ia (GSDIa) is an autosomal recessively inherited disease characterized by poor tolerance to fasting, growth retardation, and hepatomegaly resulting from accumulation of glycogen and fat in the liver. Germline mutations of glucose-6-phosphatase (G6PC) gene have been identified as a cause of GSDIa. In this study, we performed mutation analysis in five Chinese GSDIa patients belonging to five unrelated families by direct DNA sequencing. All patients were clinically classified as GSDIa. Mutation analysis of the G6PC gene revealed that all patients carried biallelic G6PC mutations (p.Ile341Asn, p.Ala274Val, p.Phe80Ile, p.Gly118Asp, p.Arg83His, c.262delG, and c.648G>T). Of the seven different mutations identified, three were found to be novel. All of the novel mutations were missense (p.Ala274Val, p.Phe80Ile, and p.Gly118Asp). The c.262delG mutation which leads to a frame-shift and truncated forms of glucose-6-phosphatase was present in three unrelated patients (one homozygote and two heterozygotes). By direct DNA sequencing, three novel G6PC variations were identified which expanded the G6PC mutation spectrum, and provided conclusive genetic evidences for the definitive diagnosis of the Chinese patients.

  11. Natural Progression of Canine Glycogen Storage Disease Type IIIa

    PubMed Central

    Brooks, Elizabeth D; Yi, Haiqing; Austin, Stephanie L; Thurberg, Beth L; Young, Sarah P; Fyfe, John C; Kishnani, Priya S; Sun, Baodong

    2016-01-01

    Glycogen storage disease type IIIa (GSD IIIa) is caused by a deficiency of glycogen debranching enzyme activity. Hepatomegaly, muscle degeneration, and hypoglycemia occur in human patients at an early age. Long-term complications include liver cirrhosis, hepatic adenomas, and generalized myopathy. A naturally occurring canine model of GSD IIIa that mimics the human disease has been described, with progressive liver disease and skeletal muscle damage likely due to excess glycogen deposition. In the current study, long-term follow-up of previously described GSD IIIa dogs until 32 mo of age (n = 4) and of family-owned GSD IIIa dogs until 11 to 12 y of age (n = 2) revealed that elevated concentrations of liver and muscle enzyme (AST, ALT, ALP, and creatine phosphokinase) decreased over time, consistent with hepatic cirrhosis and muscle fibrosis. Glycogen deposition in many skeletal muscles; the tongue, diaphragm, and heart; and the phrenic and sciatic nerves occurred also. Furthermore, the urinary biomarker Glc4, which has been described in many types of GSD, was first elevated and then decreased later in life. This urinary biomarker demonstrated a similar trend as AST and ALT in GSD IIIa dogs, indicating that Glc4 might be a less invasive biomarker of hepatocellular disease. Finally, the current study further demonstrates that the canine GSD IIIa model adheres to the clinical course in human patients with this disorder and is an appropriate model for developing novel therapies. PMID:26884409

  12. Inherent lipid metabolic dysfunction in glycogen storage disease IIIa.

    PubMed

    Li, Xin-Hua; Gong, Qi-Ming; Ling, Yun; Huang, Chong; Yu, De-Min; Gu, Lei-Lei; Liao, Xiang-Wei; Zhang, Dong-Hua; Hu, Xi-Qi; Han, Yue; Kong, Xiao-Fei; Zhang, Xin-Xin

    2014-12-05

    We studied two patients from a nonconsanguineous family with life-long abnormal liver function, hepatomegaly and abnormal fatty acid profiles. Abnormal liver function, hypoglycemia and muscle weakness are observed in various genetic diseases, including medium-chain acyl-CoA dehydrogenase (MCAD) deficiency and glycogen storage diseases. The proband showed increased free fatty acids, mainly C8 and C10, resembling fatty acid oxidation disorder. However, no mutation was found in ACADM and ACADL gene. Sequencing of theamylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL) gene showed that both patients were compound heterozygotes for c.118C > T (p.Gln40X) and c.753_756 del CAGA (p.Asp251Glufsx29), whereas their parents were each heterozygous for one of these mutations. The AGL protein was undetectable in EBV-B cells from the two patients. Transcriptome analysis demonstrated a significant different pattern of gene expression in both of patients’ cells, including genes involving in the PPAR signaling pathway, fatty acid biosynthesis, lipid synthesis and visceral fat deposition and metabolic syndrome. This unique gene expression pattern is probably due to the absence of AGL, which potentially accounts for the observed clinical phenotypes of hyperlipidemia and hepatocyte steatosis in glycogen storage disease type IIIa.

  13. Fetal neuroblastoma: ultrasonography and magnetic resonance imaging findings in the prenatal and postnatal IV-S stage

    PubMed Central

    Werner, Heron; Daltro, Pedro; Davaus, Taisa

    2016-01-01

    We report a case of a fetus with an ultrasonography diagnosis of a neuroblastoma during a routine third trimester fetal scan, which presented as a hyperechogenic nodule located above the right kidney. No other abnormalities were found in the ultrasonography scan; however, the follow-up ultrasonography during the 36th week of gestation revealed that the lesion had doubled in size. At the same time, magnetic resonance imaging demonstrated a round mass in the topography of the right adrenal gland with a low signal on T1-weighted images and slightly high signal on T2-weighted images, causing a slight inferior displacement of the kidney. The liver had enlarged and had heterogeneous signal intensity, predominantly hypointense on T2-weighted sequences. Based on these findings, a diagnosis of congenital adrenal neuroblastoma with liver metastases was suggested. A newborn male was delivered by cesarean section 2 weeks later. The physical examination of the neonate revealed abdominal distention and hepatomegaly. The infant had a clinical follow-up in which no surgical or medical intervention was required. At 5 months of age, the infant was asymptomatic with a normal physical examination. PMID:27668206

  14. Cardiomyopathy in captive African hedgehogs (Atelerix albiventris).

    PubMed

    Raymond, J T; Garner, M M

    2000-09-01

    From 1994 to 1999, 16 captive African hedgehogs (Atelerix albiventris), from among 42 necropsy cases, were diagnosed with cardiomyopathy. The incidence of cardiomyopathy in this study population was 38%. Fourteen of 16 hedgehogs with cardiomyopathy were males and all hedgehogs were adult (>1 year old). Nine hedgehogs exhibited 1 or more of the following clinical signs before death: heart murmur, lethargy, icterus, moist rales, anorexia, dyspnea, dehydration, and weight loss. The remaining 7 hedgehogs died without premonitory clinical signs. Gross findings were cardiomegaly (6 cases), hepatomegaly (5 cases), pulmonary edema (5 cases), pulmonary congestion (4 cases), hydrothorax (3 cases), pulmonary infarct (1 case), renal infarcts (1 case), ascites (1 case), and 5 cases showed no changes. Histologic lesions were found mainly within the left ventricular myocardium and consisted primarily of myodegeneration, myonecrosis, atrophy, hypertrophy, and disarray of myofibers. All hedgehogs with cardiomyopathy had myocardial fibrosis, myocardial edema, or both. Other common histopathologic findings were acute and chronic passive congestion of the lungs, acute passive congestion of the liver, renal tubular necrosis, vascular thrombosis, splenic extramedullary hematopoiesis, and hepatic lipidosis. This is the first report of cardiomyopathy in African hedgehogs.

  15. Morphological characterisation of malignant histiocytosis in a cat.

    PubMed

    Cortese, L; Paciello, O; Papparella, S

    2008-11-01

    Malignant histiocytosis (MH) is a progressive systemic neoplastic proliferation of morphologically atypical histiocytes, well characterised in humans and dogs but only recently identified in the cat. In all species, liver, lung, lymph nodes, spleen and bone marrow are infiltrated by atypical histiocytes, and the disease is rapidly fatal. The purpose of this study was to describe the clinical, histological, immunohistochemical and ultrastructural findings of MH in a cat, together with the diagnostic work-up and a list of differential diagnoses. Clinical evaluation included a complete blood-cell count, serum biochemistry, urinalysis, serology and ultrasound examination. The cat had clinical signs of depression, thinness, dehydration, pale mucous membranes and tachycardia. Abdominal ultrasonography revealed generalised splenomegaly and hepatomegaly. Necroscopy showed whitish nodules, randomly scattered throughout the parenchyma in the spleen and liver. The periportal lymph nodes were greatly enlarged and the cut surface was uniformly greyish-white and translucent. Histological examination revealed pleomorphic proliferation of large round tumour cells, with numerous phagocytic vacuoles containing erytrocytes, leukocytes and haemosiderin. By immunohistochemistry, positivity for lysozyme and alpha1-antitrypsin and a scattered positivity for Mac 387 were observed. Ultrastructural features of tumour cells included cytoplasmic lipid droplets, lysosomes and phagolysosomes. MH in the cat needs to be differentiated from diffuse granulomatous disease, non-Hodgkin's lymphoma and Hodgkin's-like disease. The morphological features of the tumour cells, combined with immunohistochemical and ultrastructural observation, are consistent with a diagnosis of MH in the cat.

  16. Apigenin Ameliorates Dyslipidemia, Hepatic Steatosis and Insulin Resistance by Modulating Metabolic and Transcriptional Profiles in the Liver of High-Fat Diet-Induced Obese Mice.

    PubMed

    Jung, Un Ju; Cho, Yun-Young; Choi, Myung-Sook

    2016-05-19

    Several in vitro and in vivo studies have reported the anti-inflammatory, anti-diabetic and anti-obesity effects of the flavonoid apigenin. However, the long-term supplementary effects of low-dose apigenin on obesity are unclear. Therefore, we investigated the protective effects of apigenin against obesity and related metabolic disturbances by exploring the metabolic and transcriptional responses in high-fat diet (HFD)-induced obese mice. C57BL/6J mice were fed an HFD or apigenin (0.005%, w/w)-supplemented HFD for 16 weeks. In HFD-fed mice, apigenin lowered plasma levels of free fatty acid, total cholesterol, apolipoprotein B and hepatic dysfunction markers and ameliorated hepatic steatosis and hepatomegaly, without altering food intake and adiposity. These effects were partly attributed to upregulated expression of genes regulating fatty acid oxidation, tricarboxylic acid cycle, oxidative phosphorylation, electron transport chain and cholesterol homeostasis, downregulated expression of lipolytic and lipogenic genes and decreased activities of enzymes responsible for triglyceride and cholesterol ester synthesis in the liver. Moreover, apigenin lowered plasma levels of pro-inflammatory mediators and fasting blood glucose. The anti-hyperglycemic effect of apigenin appeared to be related to decreased insulin resistance, hyperinsulinemia and hepatic gluconeogenic enzymes activities. Thus, apigenin can ameliorate HFD-induced comorbidities via metabolic and transcriptional modulations in the liver.

  17. Characteristics of AA amyloidosis patients in San Francisco.

    PubMed

    Lejmi, Hiba; Jen, Kuang-Yu; Olson, Jean L; James, Sam H; Sam, Ramin

    2016-04-01

    AA amyloidosis due to subcutaneous injection of drugs of abuse has been described in the USA, but all the existing literature is from more than 20 years ago. There is more recent literature from Europe. We have observed a high incidence of AA amyloidosis in the county hospital in San Francisco. Here, we describe 24 patients who had kidney biopsy-proven AA amyloidosis from our hospital from 1998 to 2013. All the patients were thought to have AA amyloidosis from skin popping of illicit drugs after having exhausted the intravenous route. These patients with biopsy-proven AA amyloidosis were analysed further. All patients were found to have hepatitis C infection, hypertension was not common, most had advanced kidney failure, and acidosis was common as was tubulointerstitial involvement on the kidney biopsy. Other organ involvement included hepatomegaly and splenomegaly in a number of patients; direct myocardial involvement was not seen, but pulmonary hypertension, history of deep vein thrombosis and pulmonary embolism were common. The prognosis of these patients was poor. The mortality rate approached 50% 1 year after biopsy, and most of the patient needed dialysis shortly after diagnosis. Cessation of drug use seemed beneficial but rarely achievable. AA amyloidosis from skin popping is common in San Francisco. Most patients with renal involvement end up on dialysis, and mortality rates are exceedingly high. © 2015 Asian Pacific Society of Nephrology.

  18. [Hepatic fasciolasis diagnosed in state phase].

    PubMed

    Cruz López, Othón; Adán Pimentel, Alfredo; Tamariz Cruz, Orlando José; Muñoz López, Arturo; Cruz López, María Cristina; Cruz López, María Elena; Muñoz López, Sandra

    2006-01-01

    Hepatic fasciolosis is a zoonosis that accidentally can invade the human. 62 years old male, farmer, lives in a rural community in Tehuacan, Puebla, Mexico. His living space is not provided with running water nor drainage. He has contact with sheep and bovines. Started presenting symptoms two years before. Suffered from myalgia, joint pain, fever of 38 degrees C and epigastric pain that radiated the hypocondrium and the right shoulder. He had diarrhea five times in 24 hours as well as lack of appetite that lead to a weight loss of 20 kilograms in two years. He was hospitalized and the physical examination revealed diminished muscular mass, right hypocondrium pain and hepatomegaly of 3 cm below costal margin. He said he ate watercress (Nasturium officinalis) two or three times a week. Blood test revealed erythrocytes of 3.6 x 105 mm3; hemoglobin of 11.9 g/dL; hematocrit of 30%; leukocytes 8950 mm3; neutrophils 65%; lymphocytes of 30%; eosinophils of 3%; monocytes of 1% and basophiles of 1%. Globular sedimentation was 83 mm and hemoglobin concentration was 33. Liver test results were normal and mycobacterium in fecal samples was negative, but stool detection tests revealed eggs of Fasciola hepatica. The diagnosis was hepatic fasciolosis in its biliar stage. Dehidrohemetine (1.5 mg/kg) was administered during 10 days. Symptoms disappeared within 48 hours. The lack of knowledge about fasciolosis makes it hard to diagnose it. The publication of case reports must help to facilitate its diagnosis.

  19. EWS/FLI-1 induces rapid onset of myeloid/erythroid leukemia in mice.

    PubMed

    Torchia, Enrique C; Boyd, Kelli; Rehg, Jerold E; Qu, Chunxu; Baker, Suzanne J

    2007-11-01

    EWS/FLI-1 is a chimeric oncogene generated by chromosomal translocation in Ewing tumors, a family of poorly differentiated pediatric tumors arising predominantly in bone but also in soft tissue. The fusion gene combines sequences encoding a strong transactivating domain from the EWS protein with the DNA binding domain of FLI-1, an ETS transcription factor. A related fusion, TLS/ERG, has been found in myeloid leukemia. To determine EWS/FLI-1 function in vivo, we engineered mice with Cre-inducible expression of EWS/FLI-1 from the ubiquitous Rosa26 locus. When crossed with Mx1-cre mice, Cre-mediated activation of EWS/FLI-1 resulted in the rapid development of myeloid/erythroid leukemia characterized by expansion of primitive mononuclear cells causing hepatomegaly, splenomegaly, severe anemia, and death. The disease could be transplanted serially into naïve recipients. Gene expression profiles of primary and transplanted animals were highly similar, suggesting that activation of EWS/FLI-1 was the primary event leading to disease in this model. The Cre-inducible EWS/FLI-1 mouse provides a novel model system to study the contribution of this oncogene to malignant disease in vivo.

  20. [Amebic liver abscess in Tarapoto-Peru].

    PubMed

    Samaniego, L; Calderón, J; Rodríguez, J; Zegarra, W; Alegre, P; Ramírez, H

    1992-01-01

    In order to know the incidence and epidemiologic features of the Amebic Hepatic Abscess we realized this study in the medicine service. 86.67% were males, the average age was 41.38 +/- 18.60 years old being more frequent between 30 and 69 years old (74.48%). The more affected were farmers (60%), students (10%) and Housekeepers (6.67%). The average time of the disease was 12.12 +/- 6.35 dias. The most frequent symptoms were abdominal pain in the upper right quadrant (96.66%), Hepatomegaly (83.33%), Fever (82.22%), Diarrhea (37.77%), Nausea (36.66%), Jaundice (33.33%). The initial diagnosis was AHA (45.55%), acute cholecystitis (14.44%), generalized infectious syndrome (7.77%), acute hepatitis (6.66%). The most frequent studies was: echography (98.85%). AHA alone was in the right lobe (84.05%), left lobe (14.49%). The bigger abscess was of 12 cm in diameter. The treatment was metronidazole + antibioticos (37.78%), metronidazole + antibiotico+percutaneous drainage (24.45%), Metronidazole + surgical drainage (3.33%). The complications were right pleural effusion (8.89%), peritonitis (5.56%) and pioneumothorax (1.11%). The hospitalization time was 14 +/- 8.02 days. There was one death (1.11%). The AHA was ones of each 76 deliveries in our medicine service.

  1. Relationship between plasma lipids and palmitoyl-CoA hydrolase and synthetase activities with peroxisomal proliferation in rats treated with fibrates.

    PubMed Central

    Alegret, M.; Ferrando, R.; Vázquez, M.; Adzet, T.; Merlos, M.; Laguna, J. C.

    1994-01-01

    1. The time-course of the effect of clofibrate (CFB), bezafibrate (BFB) and gemfibrozil (GFB) on lipid plasma levels and palmitoyl-CoA hydrolase and synthetase activities, as well as the correlations with the peroxisomal proliferation phenomenon have been studied in male Sprague-Dawley rats. 2. The administration of the three drugs caused a significant reduction in body weight gain, accompanied with a paradoxical increase in food intake in groups treated with BFB and GFB. 3. Drug treatment produced gross hepatomegaly and increase in peroxisomal beta-oxidation, and these parameters were strongly correlated. The order of potency was BFB > CFB > or = GFB. 4. Both plasma cholesterol (BFB approximately CFB > GFB) and triglyceride (BFB approximately GFB > CFB) levels were reduced in treated animals. There was an inverse correlation between these parameters and peroxisomal beta-oxidation, although the peroxisomal proliferation seemed to explain only a small part of the hypolipidemic effect observed. 5. Cytosolic and microsomal (but not mitochondrial) palmitoyl-CoA hydrolase activities were increased by the three drugs (BFB > CFB > GFB), probably by inducing the hydrolase I isoform, which is insensitive to inhibition by fibrates in vitro. The increased hydrolase activities were directly and strongly correlated with peroxisomal beta-oxidation. 6. Palmitoyl-CoA synthetase activity was also increased by the treatment with fibrates (BFB > CFB > GFB), probably as a consequence of the enhancement of hydrolase activities.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:7915611

  2. Diagnosis of Primary Cancer of the Liver

    PubMed Central

    Kew, M. C.; Dos Santos, H. A.; Sherlock, Sheila

    1971-01-01

    The diagnosis of primary cancer of the liver was reviewed in 75 patients. A definitive diagnosis was made during life in 63% and in a further 20% this condition was suspected though histological confirmation was obtained only at necropsy. The most common presenting complaints were abdominal pain and weight loss and the most frequent findings hepatomegaly and ascites. Less than one-half of the patients were jaundiced and when present it was usually mild. An arterial bruit was heard over the liver in 25% of the patients. A sudden and unexplained deterioration in a patient known to have cirrhosis or haemochromatosis should raise the possibility of a primary hepatic tumour; this occurred in 24% of our patients. Alpha-fetoprotein was found in the serum of 11 out of 18 cases. The presence of a mass in the liver was frequently confirmed by liver scan, portal venography, or hepatic arteriography, but these showed no features diagnostic of a primary tumour. Liver scan also proved useful in localizing the lesion for biopsy purposes. Definitive diagnosis is dependent on the histological demonstration of the features of the tumour. This can frequently be achieved by percutaneous needle biopsy, which was positive in 38 out of 57 patients. Wedge biopsies were positive in a further nine patients. PMID:5124443

  3. [An elderly case of idiopathic dilatation of the right atrium in which right-sided heart failure was exacerbated by drug-induced bradyarrhythmia].

    PubMed

    Kodama-Takahashi, K; Ohshima, K; Yamamoto, K; Iwata, T

    2001-07-01

    We describe an elderly case of idiopathic dilatation of the right atrium in which right-sided heart failure was exacerbated by drug-induced bradyarrhythmia. An 84-year-old man, who had a 10-year history of episodic edema, was treated with proscillaridin and verapamil hydrochloride at another hospital. He had experienced a poor appetite and general malaise 2 months previously, and exertional dyspnea 10 days previously. On admission, he had jugular venous dilatation, systemic edema, and hepatomegaly. On auscultation, a third heart sound originating from the right ventricle and systolic murmur of tricuspid regurgitation were heard. An admission electrocardiogram showed an atrial standstill and junctional escape rhythm with a QRS rate of 31 beats/minute. Chest roentgenogram revealed a bilateral pleural effusion and cardiomegaly with a cardiothoracic ratio of 76%, but no pulmonary congestion. Echocardiogram disclosed idiopathic dilatation of the right atrium and secondary tricuspid regurgitation. He was given a diagnosis of right-sided heart failure due to idiopathic dilatation of the right atrium exacerbated by bradyarrhythmia, which was suspected to derive from the side effects of proscillaridin and verapamil hydrochloride. Thus, these agents were withheld. In addition, the patient reduced sodium intake and was treated with diuretics and beta-adrenergic agonist. Thereafter, right-sided heart failure markedly improved. At the time of the last follow-up 16 months after discharge, he felt well.

  4. Novel Synergistic Protective Efficacy of Atovaquone and Diclazuril on Fetal-Maternal Toxoplasmosis

    PubMed Central

    Oz, Helieh S.

    2014-01-01

    Over 1 billion people globally are estimated to be infected with Toxoplasma gondii with severe or unknown consequences and no safe and effective therapies are available against congenital or persistent chronic infection. We propose that atovaquone and diclazuril synergistically protect against fetal-maternal toxoplasmosis. Methods Programmed pregnant mice were treated with atovaquone and diclazuril monotherapy, or combined (atovaquone + diclazuril) therapy and infected with tachyzoites (0, 300, 600) and the course of infection was studied. Results Infected dams with low dose (300) developed moderate toxoplasmosis complications and treatments were similarly effective with minor differences between monotherapies. In contrast, major differences were observed amongst varied treatments during high-dose (600) infection and severe related- toxoplasmosis complications as follows. Dams developed hydrothorax, ascities and excess weight gain. Combined therapy (P < 0.01) and to a lesser extent diclazuril monotherapy (P < 0.05) protected dams from excess weight, hydrothorax, and ascities. Infected dams exhibited splenomegaly, hepatomegaly and severe hepatitis. Combined therapy synergistically normalized pathology (P < 0.001) and to a lesser degree monotherapy (diclazuril P < 0.01, and atovaquone P < 0.05) protected dams from hepatitis and splemomegaly. Additionally, behavioral response to pain stimuli and fetal weight and fetal numbers were significantly preserved in treated dams Conclusions This is the first report describing combined atovaquone and diclazuril therapy (a) to be safe in pregnancy, (b) to exert novel synergistic effects, and (c) to protect dams and their nested fetuses against adverse effects of severe toxoplasmosis. PMID:25210646

  5. Does Lysosomial Acid Lipase Reduction Play a Role in Adult Non-Alcoholic Fatty Liver Disease?

    PubMed

    Baratta, Francesco; Pastori, Daniele; Polimeni, Licia; Tozzi, Giulia; Violi, Francesco; Angelico, Francesco; Del Ben, Maria

    2015-11-25

    Lysosomal Acid Lipase (LAL) is a key enzyme involved in lipid metabolism, responsible for hydrolysing the cholesteryl esters and triglycerides. Wolman Disease represents the early onset phenotype of LAL deficiency rapidly leading to death. Cholesterol Ester Storage Disease is a late onset phenotype that occurs with fatty liver, elevated aminotransferase levels, hepatomegaly and dyslipidaemia, the latter characterized by elevated LDL-C and low HDL-C. The natural history and the clinical manifestations of the LAL deficiency in adults are not well defined, and the diagnosis is often incidental. LAL deficiency has been suggested as an under-recognized cause of dyslipidaemia and fatty liver. Therefore, LAL activity may be reduced also in non-obese patients presenting non-alcoholic fatty liver disease (NAFLD), unexplained persistently elevated liver transaminases or with elevation in LDL cholesterol. In these patients, it could be indicated to test LAL activity. So far, very few studies have been performed to assess LAL activity in representative samples of normal subjects or patients with NAFLD. Moreover, no large study has been carried out in adult subjects with NAFLD or cryptogenic cirrhosis.

  6. [T-zone lymphoma--clinical symptoms, therapy, and prognosis (author's transl)].

    PubMed

    Helbron, D; Brittinger, G; Lennert, K

    1979-08-01

    The clinical symptoms, response to therapy, and prognosis of T-zone lymphoma were analyzed in 32 cases. This recently defined lymphoma entity developed relatively quickly with generalized lymphadenopathy and general malaise. Hepatomegaly and/or splenomegaly and skin efflorescence were frequent presenting symptoms. A few patients showed hyperimmune reactions and occasionally severe autoimmune hemolytic anemia. The erythrocyte sedimentation rate was usually markedly elevated. There was sometimes a polyclonal increase in serum immunoglobulin, sometimes a reduction. Blood and bone marrow smears from a few patients showed occasional atypical lymphocytes. A remarkable finding was the frequent involvement of lung or pleura (40.5% of the patients). The prognosis is unfavorable. Most of the patients were in stages III or IV at the time of diagnosis. Massive infiltration of organs, resistance to routine therapy, and decreasing resistance to infection resulted in death soon after diagnosis. The probability of survival was 0.48 in the first year after diagnosis. The prognosis for patients in stages I and II was clearly better than that for patients in stages III and IV.

  7. Adenovirus-Mediated Somatic Genome Editing of Pten by CRISPR/Cas9 in Mouse Liver in Spite of Cas9-Specific Immune Responses.

    PubMed

    Wang, Dan; Mou, Haiwei; Li, Shaoyong; Li, Yingxiang; Hough, Soren; Tran, Karen; Li, Jia; Yin, Hao; Anderson, Daniel G; Sontheimer, Erik J; Weng, Zhiping; Gao, Guangping; Xue, Wen

    2015-07-01

    CRISPR/Cas9 derived from the bacterial adaptive immunity pathway is a powerful tool for genome editing, but the safety profiles of in vivo delivered Cas9 (including host immune responses to the bacterial Cas9 protein) have not been comprehensively investigated in model organisms. Nonalcoholic steatohepatitis (NASH) is a prevalent human liver disease characterized by excessive fat accumulation in the liver. In this study, we used adenovirus (Ad) vector to deliver a Streptococcus pyogenes-derived Cas9 system (SpCas9) targeting Pten, a gene involved in NASH and a negative regulator of the PI3K-AKT pathway, in mouse liver. We found that the Ad vector mediated efficient Pten gene editing even in the presence of typical Ad vector-associated immunotoxicity in the liver. Four months after vector infusion, mice receiving the Pten gene-editing Ad vector showed massive hepatomegaly and features of NASH, consistent with the phenotypes following Cre-loxP-induced Pten deficiency in mouse liver. We also detected induction of humoral immunity against SpCas9 and the potential presence of an SpCas9-specific cellular immune response. Our findings provide a strategy to model human liver diseases in mice and highlight the importance considering Cas9-specific immune responses in future translational studies involving in vivo delivery of CRISPR/Cas9.

  8. Aerococcus christensenii native aortic valve subacute bacterial endocarditis (SBE) presenting as culture negative endocarditis (CNE) mimicking marantic endocarditis.

    PubMed

    Jose, Anita; Cunha, Burke A; Klein, Natalie C; Schoch, Paul E

    2014-01-01

    This is a case report of an adult who presented with apparent culture negative endocarditis (CNE) thought to be marantic endocarditis due to a B-cell lymphoproliferative disorder. This was a most perplexing case and was eventually diagnosed as subacute bacterial endocarditis (SBE) due to a rare slow growing organism. Against the diagnosis of SBE was the lack of fever, hepatomegaly, peripheral manifestations and microscopic hematuria. Also, against a diagnosis of SBE was another explanation for the patient's abnormal findings, e.g., elevated ferritin levels, elevated α1/α2 globulins on SPEP, an elevated alkaline phosphatase, flow cytometry showing B-lymphocytes expressing CD5, and a bone lesion in the right iliac. Findings compatible with both SBE and marantic endocarditis due to a B-cell lymphoproliferative disorder included an elevated ESR, and splenomegaly. Blood cultures eventually became positive during hospitalization. We report a case of native aortic valve (AV) subacute bacterial endocarditis (SBE) due to Aerococcus christensenii mimicking marantic endocarditis due to a B-cell lymphoproliferative disorder. To the best of our knowledge, this is the first reported case of native AV SBE due to A. christensenii presenting as marantic endocarditis.

  9. Discovery and epidemiology of PCB poisoning in Taiwan: a four-year followup

    SciTech Connect

    Hsu, S.T.; Ma, C.I.; Hsu, S.K.H.; Wu, S.S.; Hsu, N.H.M.; Yeh, C.C.; Wu, S.B.

    1985-02-01

    An outbreak of polychlorinated biphenyl (PCB) poisoning from the consumption of contaminated rice oil, covering four counties in central Taiwan, was investigated. There were 1843 cases by the end of 1980. The highest frequency of incidence occurred during the period from March to July 1979. The severity of clinical manifestations varied. Most patients showed symptoms of mild or moderate severity. The major age group affected was between 11 and 20 years old. Most of the victims were students and factor workers. The amount of PCB intake in each victim was estimated to be 0.7 to 1.84 g and the latent period from the time of intake to the onset of clinical manifestations was approximately 3 to 4 months. The patients blood PCB concentrations ranged from 3 ppb to 1156 ppb; 44.27% of 613 patients had levels of 51 to 100 ppb and 27.6% PCB blood levels over 100 ppb. In the course of 3.5 years, 2061 persons were determined to be PCB poisoning victims. Now, except for a few severe cases, their skin symptoms are very much improved. Thirty-nine babies showing hyperpigmentation were born from PCB-poisoned mothers. The fatality rate was high: eight of them died. Another 24 deaths were reported among the PCB-poisoned group, almost half of them (12) from hepatoma, liver cirrhosis or liver diseases with hepatomegaly.

  10. Clinical and laboratory findings in primary generalized and multiple-myeloma-related amyloidosis.

    PubMed Central

    Pruzanski, W.; Katz, A.

    1976-01-01

    Thirty-four patients with primary generalized amyloidosis (PGA) and 14 with multiple-myeloma-related amyloidosis (MRA) were studied. The commonest clinical manifestations in PGA were nephrotic syndrome, hepatomegaly and congestive heart failure, and in MRA, low back pain, plasmacytoma and rheumatoid-arthritis-like syndrome. Eight patients with PGA had limited clinical expression of the disease, such as involvement of only kidneys, joints, parotid glands or gastrointestinal tract; in one patient amyloidosis was limited to lymph nodes. Low serum concentrations of total protein and albumin were common. M components were detected in the serum of 91% of patients with PGA and 92% of patients with MRA: 70% of the M components in PGA and 25% of those in MRA had lambda light chains. Bence Jones proteinemia was detected in 56% of the patients with PGA and in 77% of those with MRA. The serum concentration of immunoglobulins was decreased substantially in more than two thirds of the patients with PGA. Proteinuria (greater than 250 mg/24 h) was observed in 78% of patients with PGA and in 93% of patients with MRA. Bence Jones proteinuria was noted in 75 and 77% of patients, respectively. Plasmacytic infiltration of the bone marrow was found in 90% of the patients with PGA. The mean survival time of the patients with PGA was 28 months and of those with MRA, 29 months from the time of diagnosis. PMID:1268776

  11. GADD45β, an anti-tumor gene, inhibits avian leukosis virus subgroup J replication in chickens

    PubMed Central

    Zhang, Xinheng; Yan, Zhuanqiang; Li, Xinjian; Lin, Wencheng; Dai, Zhenkai; Yan, Yiming; Lu, Piaopiao; Chen, Weiguo; Zhang, Huanmin; Chen, Feng; Ma, Jingyun; Xie, Qingmei

    2016-01-01

    Avian leukosis virus subgroup J (ALV-J) is a retroviruses that induces neoplasia, hepatomegaly, immunosuppression and poor performance in chickens. The tumorigenic and pathogenic mechanisms of ALV-J remain a hot topic. To explore anti-tumor genes that promote resistance to ALV-J infection in chickens, we bred ALV-J resistant and susceptible chickens (F3 generation). RNA-sequencing (RNA-Seq) of liver tissue from the ALV-J resistant and susceptible chickens identified 216 differentially expressed genes; 88 of those genes were up-regulated in the ALV-J resistant chickens (compared to the susceptible ones). We screened for significantly up-regulated genes (P < 0.01) of interest in the ALV-J resistant chickens, based on their involvement in biological signaling pathways. Functional analyses showed that overexpression of GADD45β inhibited ALV-J replication. GADD45β could enhance defense against ALV-J infection and may be used as a molecular marker to identify ALV-J infections. PMID:27655697

  12. [Toxocariasis under the present conditions].

    PubMed

    Uspenskiĭ, A V; Peshkov, R A; Gorokhov, V V; Gorokhova, E V

    2011-01-01

    Toxocariasis is today the most widespread zoonotic, helminthic infection in Russia and other countries of the world. A large population of Toxocara has recently inhabited the urban populations of dogs and cats. Therefore toxocariasis canis and toxocariasis cati have shifted from rural areas to cities and megalopolises where Toxocara canis infestation amounts to as much as 100%, without excluding that in the rural populations of dogs. Due to the fact that the number of dogs and cats has considerably increased (20% of adult dogs and 80% of puppies are infected with Toxocara) in our megalopolises, cities, and urban communities as in foreign countries, this substantially increases the risk of toxacariasis. From the above reasoning, environmental contamination with Toxacara eggs creates an important reservoir of infestation for humans and animals (the contamination rates in different regions of Russia ranges from 1-3 to 50-60%, with the infestation rates of 1 - 10 eggs per 100 g of soil). Human toxocariasis is polymorphic, from its subclinical course to significant organ pathology, and detectable as a manifestation of eosinophilia, fever, hepatomegaly, hyperglobulinemia, lung and central nervous system lesions, myocarditis, and skin rash. The diagnosis of toxocariasis is established by its clinical presentation and serological findings. It is important in the history that children have spent much time with dogs or cats.

  13. Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL.

    PubMed

    Frank, Christian G; Grubenmann, Claudia E; Eyaid, Wafaa; Berger, Eric G; Aebi, Markus; Hennet, Thierry

    2004-07-01

    Defects of lipid-linked oligosaccharide assembly lead to alterations of N-linked glycosylation known as "type I congenital disorders of glycosylation" (CDG). Dysfunctions along this stepwise assembly pathway are characterized by intracellular accumulation of intermediate lipid-linked oligosaccharides, the detection of which contributes to the identification of underlying enzymatic defects. Using this approach, we have found, in a patient with CDG, a deficiency of the ALG9 alpha 1,2 mannosyltransferase enzyme, which causes an accumulation of lipid-linked-GlcNAc(2)Man(6) and -GlcNAc(2)Man(8) structures, which was paralleled by the transfer of incomplete oligosaccharides precursors to protein. A homozygous point-mutation 1567G-->A (amino acid substitution E523K) was detected in the ALG9 gene. The functional homology between the human ALG9 and Saccharomyces cerevisiae ALG9, as well as the deleterious effect of the E523K mutation detected in the patient with CDG, were confirmed by a yeast complementation assay lacking the ALG9 gene. The ALG9 defect found in the patient with CDG--who presented with developmental delay, hypotonia, seizures, and hepatomegaly--shows that efficient lipid-linked oligosaccharide synthesis is required for proper human development and physiology. The ALG9 defect presented here defines a novel form of CDG named "CDG-IL."

  14. Multidrug-resistant typhoid fever: a review.

    PubMed

    Zaki, Syed Ahmed; Karande, Sunil

    2011-05-28

    Multidrug-resistant typhoid fever (MDRTF) is defined as typhoid fever caused by Salmonella enterica serovar Typhi strains (S. Typhi), which are resistant to the first-line recommended drugs for treatment such as chloramphenicol, ampicillin and trimethoprim-sulfamethoxazole. Since the mid-1980s, MDRTF has caused outbreaks in several countries in the developing world, resulting in increased morbidity and mortality, especially in affected children below five years of age and those who are malnourished. Two methods were used to gather the information presented in this article. First PubMed was searched for English language references to published relevant articles. Secondly, chapters on typhoid fever in standard textbooks of paediatric infectious diseases and preventive and social medicine were reviewed. Although there are no pathognomonic clinical features of MDRTF at the onset of the illness, high fever ( > 104°F), toxaemia, abdominal distension, abdominal tenderness, hepatomegaly and splenomegaly are often reported. The gold standard for the diagnosis of MDRTF is bacterial isolation of the organism in blood cultures. Ciprofloxacin and ceftriaxone are the drugs most commonly used for treatment of MDRTF and produce good clinical results. MDRTF remains a major public health problem, particularly in developing countries. Mass immunization in endemic areas with either the oral live attenuated Typhi 21a or the injectable unconjugated Vi typhoid vaccine, rational use of antibiotics, improvement in public sanitation facilities, availability of clean drinking water, promotion of safe food handling practices and public health education are vital in the prevention of MDRTF.

  15. Common presentation of amebic liver abscess - a study in a tertiary care hospital in Bangladesh.

    PubMed

    Hoque, M I; Uddin, M S; Sarker, A R; Uddin, M K

    2014-10-01

    Amebic liver abscess is a tropical disease. It is not uncommon in Bangladesh. Given the often nonspecific nature of complains related to amebic liver abscess, this study was carried out to identify the most common presentation. This hospital based cross sectional study was carried out in 30 cases of amebic liver abscess in the Department of Medicine, Gastroenterology and Hepatology, Comilla Medical College Hospital, Bangladesh. Clinical and laboratory informations were recorded including symptoms, signs, location and number of abscess. Among 30 patients, 27 were male (90%) and 3 female (10%), mean age of male and female were 42±11 and 52±8 respectively. Common clinical symptoms were fever (93%) and abdominal pain (93%). Common signs were right upper quadrant tenderness (60%), hepatomegaly (67%). Most of the patient had single abscess (80%) and location of abscess was predominantly in the right lobe (77%). Radiological abnormality on x-ray chest was present in 30% cases. Common clinical presentation of amebic liver abscess patients were fever and right upper abdominal pain. Duration of symptoms was more than two weeks in most cases.

  16. Definite hereditary hemorrhagic telangiectasia in a 60-year-old black Kenyan woman: a case report.

    PubMed

    Kiyeng, Joan Chepkorir; Siika, Abraham; Koech, Cornelius; Bloomfield, Gerald S

    2016-05-25

    Hereditary hemorrhagic telangiectasia is a rare autosomal dominant inherited disease characterized by vascular dysplasia. To the best of our knowledge, we report the first case in the literature of definite hereditary hemorrhagic telangiectasia diagnosed in western Kenya, a resource-limited setting with limited treatment options. A 60-year-old black Kenyan woman was admitted 1 year ago to a hospital in western Kenya with an 11-year history of recurrent spontaneous epistaxis. Her physical examination revealed that she had telangiectasias on the tongue and hard palate, severe pallor, and hepatomegaly. A chest radiograph revealed right middle lobe opacity. After a positive saline contrast echocardiography, she underwent contrast-enhanced chest computed tomography, which revealed a large pulmonary arteriovenous malformation and multiple hepatic arteriovenous malformations. Therefore, she fulfilled criteria for definite hereditary hemorrhagic telangiectasia. She was managed with nasal packing, tranexamic acid, oral ferrous sulfate, and blood transfusions, as other treatment options were unavailable in this setting. This rare case of hereditary hemorrhagic telangiectasia demonstrates that it occurs in an African population and that diagnostic challenges in resource-limited settings can be surmounted. Treatment options remain limited in these settings.

  17. [Use of hepatocytes in primary cultures to predict potential hepatocarcinogenicity of compounds

    PubMed

    Bieri, F.; Muakkassah-Kelly, S.; Bentley, P.

    1990-01-01

    Short-term tests for genotoxic activity will detect a variety of potential carcinogens. However, experience over the last few years has shown that many chemical carcinogens are not detected in these tests. A large proportion of these non-mutagenic (non-genotoxic) carcinogens induce tumors in the rodent liver after life-long feeding. One class of such carcinogens are the hypolipidemic drugs many of which induce a characteristic hepatomegaly upon subchronic treatment. Typically this liver enlargement is accompanied by increased mitotic activity and a proliferation of the hepatic peroxisome compartment. Results also suggest a correlation between the degree and the nature of the hepatomegalic response to a compound, and its hepatocarcinogenic potency, but it remains unclear whether the growth stimulation and/or the peroxisome proliferation is correlated with the carcinogenicity. Both, the induction of peroxisomal enzyme and of replicative DMA synthesis may be measured in primary cultures of adult rat hepatocytes following in vitro exposition. Moreover, the ability of the compounds tested to induce in vitro replicative DNA synthesis in primary cultures of adult rat hepatocytes correlated well with the potency of the hepatomegalic response induced in vivo in treated rodents. Consequently, studies using such cultures might be useful to characterize and possibly predict in vitro the hepatocarcinogenic potency of some new compounds. The early recognition of the possible carcinogenic property of a new substance might accordingly contribute to the reduction of a number of life-long studies.

  18. [Paediatric visceral leishmaniasis: experience of a paediatric referral center 1990-2009].

    PubMed

    Dionísio, Maria Teresa; Dias, Andrea; Rodrigues, Fernanda; Félix, Miguel; Estêvão, Maria Helena

    2011-01-01

    Visceral Leishmaniasis (VL) is a systemic infection, endemic in many parts of the world, including Portugal. The aim is to review all cases of VL admitted to our hospital. Retrospective analysis of all cases of VL admitted to a Level III Paediatric Hospital, between January 1990 and December 2009 (20 years). Demographic, epidemiological, clinical, laboratorial, therapeutic and follow-up data were analysed. During the study period, 54 children were admitted with VL, three of which were excluded from the study due to incomplete clinical records. The mean age was 27 months (seven months - twelve years) and 53% were female. Two thirds of the cases were diagnosed during Spring and Summer. The mean time for diagnosis was 31 days (2-188 days). The most common clinical findings were splenomegaly (100%), fever (96%), pallor (90%) and hepatomegaly (82%). Bone marrow aspiration was performed in all children, with amastigotes identified in 73% of the cases. Indirect immunofluorescence was performed in 30 cases, being positive in 29 (97%). All were treated with meglumine antimoniate. Three children relapsed during the first year after the initial episode. A 17 months-old child died due to cardiac failure. The early diagnosis of VL is essential to carry out prompt management and prevent potential fatal complications. In our analysis, the management with meglumine antimoniate resulted in an overall favourable outcome.

  19. Teratogenic effect of cisplatin in rats and the protective role of sodium selenate.

    PubMed

    Hassan, Mohammed S; Morgan, Ashraf M; Mekawy, Mohey M; Zaki, Amr R; Ghazi, Zeinab M

    2016-05-01

    Eighty pregnant Sprague-Dawley rats were used in this study. They were allotted to four equal groups. The first group served as a control without any treatment while the other groups were given cisplatin, sodium selenate, and cisplatin+sodium selenate, respectively. Cisplatin was injected intraperitoneally in a dose of 5mg/kgb wt. on the 12th day of gestation while sodium selenate was administered orally in a dose of 0.5mg/kgb wt throughout gestation. Animals were sacrificed on the 20th day of gestation for fetal examination. Cisplatin produced significant elevation in the percentages of late resorption sites and dead foetuses compared with the control group. The mean foetal and placental weights were significantly reduced. Dwarf foetuses and subcutaneous (s/c) haemorrhage were also recorded in cisplatin-treated group. Visceral abnormalities were revealed in the form of dilated nares, anophthalmia and/or microphthalmia, dilated brain ventricles, hypertrophy of the heart, hypoplasia of the lung, hepatomegaly and dilated renal pelvis. Skeletal examination showed wide open fontanel, incomplete ossification of parietal and interparietal bones, incomplete ossification of sternum, reduction in the number or even complete absence of phalanges, sacral and/or caudal vertebrae. Histopathological examination of placentas in cisplatin-treated group revealed severe pathological alterations. Administration of sodium selenate significantly alleviated the afore-mentioned adverse effects of cisplatin on the fetuses and their placentas so we conclude that sodium selenate as an antioxidant has an effective protective role in cisplatin teratogenic effects.

  20. Plasma cholesterol-lowering and transient liver dysfunction in mice lacking squalene synthase in the liver.

    PubMed

    Nagashima, Shuichi; Yagyu, Hiroaki; Tozawa, Ryuichi; Tazoe, Fumiko; Takahashi, Manabu; Kitamine, Tetsuya; Yamamuro, Daisuke; Sakai, Kent; Sekiya, Motohiro; Okazaki, Hiroaki; Osuga, Jun-ichi; Honda, Akira; Ishibashi, Shun

    2015-05-01

    Squalene synthase (SS) catalyzes the biosynthesis of squalene, the first specific intermediate in the cholesterol biosynthetic pathway. To test the feasibility of lowering plasma cholesterol by inhibiting hepatic SS, we generated mice in which SS is specifically knocked out in the liver (L-SSKO) using Cre-loxP technology. Hepatic SS activity of L-SSKO mice was reduced by >90%. In addition, cholesterol biosynthesis in the liver slices was almost eliminated. Although the hepatic squalene contents were markedly reduced in L-SSKO mice, the hepatic contents of cholesterol and its precursors distal to squalene were indistinguishable from those of control mice, indicating the presence of sufficient centripetal flow of cholesterol and/or its precursors from the extrahepatic tissues. L-SSKO mice showed a transient liver dysfunction with moderate hepatomegaly presumably secondary to increased farnesol production. In a fed state, the plasma total cholesterol and triglyceride were significantly reduced in L-SSKO mice, primarily owing to reduced hepatic VLDL secretion. In a fasted state, the hypolipidemic effect was lost. mRNA expression of liver X receptor α target genes was reduced, while that of sterol-regulatory element binding protein 2 target genes was increased. In conclusion, liver-specific ablation of SS inhibits hepatic cholesterol biosynthesis and induces hypolipidemia without increasing significant mortality.

  1. GADD45β, an anti-tumor gene, inhibits avian leukosis virus subgroup J replication in chickens.

    PubMed

    Zhang, Xinheng; Yan, Zhuanqiang; Li, Xinjian; Lin, Wencheng; Dai, Zhenkai; Yan, Yiming; Lu, Piaopiao; Chen, Weiguo; Zhang, Huanmin; Chen, Feng; Ma, Jingyun; Xie, Qingmei

    2016-10-18

    Avian leukosis virus subgroup J (ALV-J) is a retroviruses that induces neoplasia, hepatomegaly, immunosuppression and poor performance in chickens. The tumorigenic and pathogenic mechanisms of ALV-J remain a hot topic. To explore anti-tumor genes that promote resistance to ALV-J infection in chickens, we bred ALV-J resistant and susceptible chickens (F3 generation). RNA-sequencing (RNA-Seq) of liver tissue from the ALV-J resistant and susceptible chickens identified 216 differentially expressed genes; 88 of those genes were up-regulated in the ALV-J resistant chickens (compared to the susceptible ones). We screened for significantly up-regulated genes (P < 0.01) of interest in the ALV-J resistant chickens, based on their involvement in biological signaling pathways. Functional analyses showed that overexpression of GADD45β inhibited ALV-J replication. GADD45β could enhance defense against ALV-J infection and may be used as a molecular marker to identify ALV-J infections.

  2. Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenase Deficiency Associated with Hepatoencephalomyopathy and White Matter Signal Abnormalities on Brain MRI.

    PubMed

    Vieira, Päivi; Myllynen, Päivi; Perhomaa, Marja; Tuominen, Hannu; Keski-Filppula, Riikka; Rytky, Seppo; Risteli, Leila; Uusimaa, Johanna

    2017-06-01

    Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare inborn error of metabolism affecting both fatty acid and amino acid oxidation. It can manifest at any age, but riboflavin-responsiveness has mainly been described in less severely affected patients. We describe an infant with severe MADD presenting with profound hypotonia and hepatomegaly. Treatment with riboflavin improved his muscle strength, liver size, and biochemical markers. A homozygous mutation of electron transfer flavoprotein dehydrogenase (ETFDH) was found. His motor skills continued to progress until a fatal infection-triggered deterioration at the age of 34 months. We show changes in brain magnetic resonance imaging over the course of the disease, with profound white matter abnormalities during the deterioration phase. Aggregates of mitochondria with abnormal cristae in muscle electron microscopy were noticed already in infancy. An unusual lactate dehydrogenase (LDH) isoenzyme pattern with LDH-1 predominance was additionally observed. This case demonstrates riboflavin-responsiveness in a severely affected infant with both muscular and extramuscular involvement and further underlines the variable nature of this disease. Georg Thieme Verlag KG Stuttgart · New York.

  3. Riboflavin-responsive glutaric aciduria type II with recurrent pancreatitis.

    PubMed

    Liang, Wen-Chen; Tsai, Kun-Bon; Lai, Chiou-Lian; Chen, Liang-Hui; Jong, Yuh-Jyh

    2004-09-01

    A 22-year-old woman had suffered from several episodes of acute pancreatitis since the age of 11. Other than exercise intolerance since early childhood, her psychomotor development was normal. At age 21, she experienced two episodes of generalized muscle weakness including acute respiratory failure and hepatomegaly. Liver biopsy indicated fatty metamorphosis, and muscle biopsy revealed vacuolar myopathy with lipid accumulation. Biochemical investigations demonstrated elevated serum creatine kinase and elevated 2-hydroxylglutaric, pyruvic, ethylmalonic, hippuric, adipic, and seburic acids in urinary organic acid analysis. These findings confirmed the diagnosis of glutaric aciduria type II. Although acute pancreatitis in glutaric aciduria type II has been reported previously, this is the first reported case of recurrent pancreatitis occurring in glutaric aciduria type II. We treated the patient with l-carnitine and riboflavin. As of the latest follow-up 2.5 years later, the patient has had no further episodes of muscle weakness or pancreatitis. We suggested analyzing urine organic acid when lipid storage myopathy is suspected.

  4. Host and microbial risk factors and pathophysiology of fatal Rickettsia conorii infection in Portuguese patients

    PubMed Central

    de SOUSA, Rita; FRANÇA, Ana; NÒBREGA, Sónia DÓRIA; BELO, Adelaide; AMARO, Mario; ABREU, Tiago; POÇAS, José; PROENÇA, Paula; VAZ, José; TORGAL, Jorge; BACELLAR, Fátima; ISMAIL, Nahed; WALKER, David H.

    2008-01-01

    Background The pathophysiologic mechanisms of severity of Mediterranean spotted fever (MSF) and the host and microbial risk factors for a fatal outcome are incompletely determined. Methods In a prospective study of 140 patients with documented identification of the causative rickettsial strain admitted to 13 Portuguese hospitals during 1994−2006, univariate and multivariate analyses determined the risk factors for a fatal outcome. Findings Seventy one (51%) patients were infected with Rickettsia conorii Malish strain and 69 (49%) with Israeli spotted fever (ISF) strain. Patients were admitted to ICU (29%), hospitalized as routine inpatients (67%), or managed as outpatients (4%). Deaths occurred in 29 (21%) adults. Fatal outcome was significantly more likely for patients with ISF strain infection, and alcoholism was a risk factor. The pathophysiology of a fatal outcome involved significantly greater incidence of petechial rash, gastrointestinal symptoms, confusion/obtundation, dehydration, tachypnea, hepatomegaly, leukocytosis, coagulopathy, azotemia, hyperbilirubinemia, and elevated hepatic enzymes and creatine kinase. Some but not all these were observed more often in ISF strain-infected patients. Conclusions Although fatalities and similar clinical manifestations occurred with both strains, ISF strain was more virulent than Malish strain. Multivariate analysis revealed that acute renal failure and hyperbilirubinemia were most strongly associated with a fatal outcome. PMID:18582199

  5. The role of hepatocyte nuclear factor 4-alpha in perfluorooctanoic acid- and perfluorooctanesulfonic acid-induced hepatocellular dysfunction.

    PubMed

    Beggs, Kevin M; McGreal, Steven R; McCarthy, Alex; Gunewardena, Sumedha; Lampe, Jed N; Lau, Christoper; Apte, Udayan

    2016-08-01

    Perfluorooctanoic acid (PFOA) and perfluorooctanesulfonic acid (PFOS), chemicals present in a multitude of consumer products, are persistent organic pollutants. Both compounds induce hepatotoxic effects in rodents, including steatosis, hepatomegaly and liver cancer. The mechanisms of PFOA- and PFOS-induced hepatic dysfunction are not completely understood. We present evidence that PFOA and PFOS induce their hepatic effects via targeting hepatocyte nuclear factor 4-alpha (HNF4α). Human hepatocytes treated with PFOA and PFOS at a concentration relevant to occupational exposure caused a decrease in HNF4α protein without affecting HNF4α mRNA or causing cell death. RNA sequencing analysis combined with Ingenuity Pathway Analysis of global gene expression changes in human hepatocytes treated with PFOA or PFOS indicated alterations in the expression of genes involved in lipid metabolism and tumorigenesis, several of which are regulated by HNF4α. Further investigation of specific HNF4α target gene expression revealed that PFOA and PFOS could promote cellular dedifferentiation and increase cell proliferation by down regulating positive targets (differentiation genes such as CYP7A1) and inducing negative targets of HNF4α (pro-mitogenic genes such as CCND1). Furthermore, in silico docking simulations indicated that PFOA and PFOS could directly interact with HNF4α in a similar manner to endogenous fatty acids. Collectively, these results highlight HNF4α degradation as novel mechanism of PFOA and PFOS-mediated steatosis and tumorigenesis in human livers. Copyright © 2016 Elsevier Inc. All rights reserved.

  6. The Role of Hepatocyte Nuclear Factor 4-Alpha in Perfluorooctanoic Acid- and Perfluorooctanesulfonic Acid-Induced Hepatocellular Dysfunction

    PubMed Central

    Beggs, Kevin M.; McGreal, Steven R.; McCarthy, Alex; Gunewardena, Sumedha; Lampe, Jed N.; Lau, Christoper; Apte, Udayan

    2017-01-01

    Perfluorooctanoic acid (PFOA) and perfluorooctanesulfonic acid (PFOS), chemicals present in a multitude of consumer products, are persistent organic pollutants. Both compounds induce hepatotoxic effects in rodents, including steatosis, hepatomegaly and liver cancer. The mechanisms of PFOA- and PFOS-induced hepatic dysfunction are not completely understood. We present evidence that PFOA and PFOS induce their hepatic effects via targeting hepatocyte nuclear factor 4-alpha (HNF4α). Human hepatocytes treated with PFOA and PFOS at a concentration relevant to occupational exposure caused a decrease in HNF4α protein without affecting HNF4α mRNA or causing cell death. RNA sequencing analysis combined with Ingenuity Pathway Analysis of global gene expression changes in human hepatocytes treated with PFOA or PFOS indicated alterations in the expression of genes involved in lipid metabolism and tumorigenesis, several of which are regulated by HNF4α. Further investigation of specific HNF4α target gene expression revealed that PFOA and PFOS could promote cellular dedifferentiation and increase cell proliferation by down regulating positive targets (differentiation genes such as CYP7A1) and inducing negative targets of HNF4α (pro-mitogenic genes such as CCND1). Furthermore, in silico docking simulations indicated that PFOA and PFOS could directly interact with HNF4α in a similar manner to endogenous fatty acids. Collectively, these results highlight HNF4α degradation as novel mechanism of PFOA and PFOS-mediated steatosis and tumorigenesis in human livers. PMID:27153767

  7. Effects of Oral Administration of Silymarin in a Juvenile Murine Model of Non-alcoholic Steatohepatitis.

    PubMed

    Marin, Veronica; Gazzin, Silvia; Gambaro, Sabrina E; Dal Ben, Matteo; Calligaris, Sonia; Anese, Monica; Raseni, Alan; Avellini, Claudio; Giraudi, Pablo J; Tiribelli, Claudio; Rosso, Natalia

    2017-09-12

    The increasing prevalence of non-alcoholic fatty liver disease (NAFLD) in adolescents is challenging the global care system. No therapeutic strategies have been defined so far, and changes in the lifestyle remain the only alternative. In this study, we assessed the protective effects of silymarin in a juvenile non-alcoholic steatohepatitis (NASH) model and the in vitro effects on fat-laden human hepatocytes. C57Bl/6 mice were exposed to HFHC diet immediately after weaning. After eight weeks, animals showed histological signs of NASH. Silymarin was added to the HFHC diet, the treatment continued for additional 12 weeks and the effects on BMI, hepatomegaly, visceral fat, lipid profile, transaminases, HOMA-IR, steatosis, inflammation, fibrosis, oxidative stress, and apoptosis were determined. The switch from HFHC to control diet was used to mimic life style changes. In vitro experiments were performed in parallel in human hepatocytes. HFHC diet supplemented with silymarin showed a significant improvement in glycemia, visceral fat, lipid profile, and liver fibrosis. Moreover, it reduced (both in vitro and in vivo) ALT, hepatic inflammation, oxidative stress, and apoptosis. Lifestyle changes restored the control group parameters. The data presented show the beneficial effects of the oral administration of silymarin in the absence of changes in the dietary habits in a juvenile model of NASH.

  8. Proteinuric nephropathy in acquired and congenital generalized lipodystrophy: baseline characteristics and course during recombinant leptin therapy.

    PubMed

    Javor, Edward D; Moran, Stephanie Ann; Young, Janice Ryan; Cochran, Elaine K; DePaoli, Alex M; Oral, Elif Arioglu; Turman, Martin A; Blackett, Piers R; Savage, David B; O'Rahilly, Stephen; Balow, James E; Gorden, Phillip

    2004-07-01

    Generalized lipodystrophy is characterized by adipose tissue absence, hypoleptinemia, hypertriglyceridemia, insulin resistance, diabetes, hepatomegaly, and nonalcoholic steatohepatitis. In the course of recruiting patients for treatment with recombinant leptin, we were struck by the frequency and severity of proteinuria. We evaluated 25 patients with generalized lipodystrophy. Eighteen were treated with recombinant leptin, and we have followed 15 on leptin for 4-36 months. We followed renal parameters at baseline and during follow-up visits. Renal biopsies were performed as clinically indicated. At baseline, 22 of 25 patients (88%) had elevated urine albumin excretion (>30 mg/24 h), 15 (60%) had macroalbuminuria (>300 mg/24 h), and five (20%) had nephrotic-range proteinuria (>3500 mg/24 h). Twenty-three (92%) had elevated creatinine clearance (>125 ml/min.1.73 m(2)). Eleven of 15 patients (73%) treated with recombinant leptin exhibited reduction in proteinuria, associated with reduction of hyperfiltration. Four patients who did not improve are discussed individually. Renal biopsy findings were remarkable for focal segmental glomerulosclerosis in four patients, membranoproliferative glomerulonephritis in two patients, and diabetic nephropathy in one patient. In conclusion, generalized lipodystrophy is associated with proteinuria and unique renal pathologies, including focal segmental glomerulosclerosis and membranoproliferative glomerulonephritis. The majority treated with recombinant leptin demonstrated reduction in proteinuria and hyperfiltration.

  9. Analysis of the Clinical Profile in Patients with Plasmodium falciparum Malaria and Its Association with Parasite Density.

    PubMed

    Mangal, Praveen; Mittal, Shilpa; Kachhawa, Kamal; Agrawal, Divya; Rath, Bhabagrahi; Kumar, Sanjay

    2017-01-01

    Malaria remains a major health hazard in the modern world, particularly in developing countries. In Plasmodium falciparum malaria, there is a direct correlation between asexual erythrocytic stage parasite density and disease severity. Accordingly, the correlations between parasite density and various clinical presentations, severity, and outcome were examined in falciparum malaria in India. The study was conducted in a tertiary health-care center in North India. Of 100 cases of falciparum malaria, 65 patients were male and 35 were female. A total of 54 patients were in the uncomplicated group and 46 patients were in the complicated malaria group. Fever, anemia, icterus, splenomegaly, hepatomegaly, and hepatosplenomegaly were common clinical findings. All clinical findings were significantly more common in the complicated malaria group and patients with a high parasite density than in the uncomplicated group and those with a low parasite density. All patients in the uncomplicated malaria group had a parasite density of <5% while most patients in the complicated malaria group had a parasite density of >5%, and the difference between groups was statistically significant. The incidence of cerebral malaria was significantly higher in cases with a high parasite density; 58.33% mortality was observed in these cases. Cerebral malaria and hyperbilirubinemia was the most frequently encountered combination of complications. In P. falciparum malaria, parasite density was associated with complications and poor clinical outcomes. These results may inform treatment decisions and suggest that a threshold parasite density of 5% is informative.

  10. A retrospective analysis for aetiology and clinical findings of 287 secondary amyloidosis cases in Turkey.

    PubMed

    Tuglular, Serhan; Yalcinkaya, Fatos; Paydas, Saime; Oner, Ayse; Utas, Cengiz; Bozfakioglu, Semra; Ataman, Rezzan; Akpolat, Tekin; Ok, Ercan; Sen, Saniye; Düsünsel, Ruhan; Evrenkaya, Rifki; Akoglu, Emel

    2002-11-01

    Secondary amyloidosis is the most frequent of the various types of systemic amyloidosis, the epidemiology of which is not yet fully known. The aim of our study was to evaluate retrospectively the collective data for the aetiological distribution, clinical findings and approaches to the management of secondary amyloidosis in Turkey. Data from a simple questionnaire addressing aetiology, and demographic and clinical characteristics of patients with biopsy-proven secondary amyloidosis was retrospectively analysed. Eleven nephrology clinics contributed data for this study. The 11 contributing centres provided a total of 287 cases (102 female, 185 male). The aetiological distribution was as follows: familial Mediterranean fever (FMF) 64%, tuberculosis 10%, bronchiectasis and chronic obstructive lung disease 6%, rheumatoid arthritis 4%, spondylarthropathy 3%, chronic osteomyelitis 2%, miscellaneous 4%, unknown 7%. Oedema accompanied by proteinuria was present in 88% of the cases, hepatomegaly in 17%, and splenomegaly in 11%. The mean systolic and diastolic blood pressures were 115+/-26 and 73+/-15 mmHg respectively. The family history was positive in 16%; 73% of the cases were on colchicine treatment when the questionnaire was administered. Thirty-eight per cent of the cases had progressed to ESRD and were on renal replacement therapy. FMF is the leading cause of secondary amyloidosis in Turkey, followed by tuberculosis. Oedema accompanied by proteinuria is the most prominent presenting finding, and hypotension seems to be common among these patients.

  11. Ocular and multicentric lymphoma in a young racehorse.

    PubMed

    Germann, Stephanie E; Richter, Marianne; Schwarzwald, Colin C; Wimmershoff, Julia; Spiess, Bernhard M

    2008-09-01

    A 6-year-old thoroughbred gelding was presented with a history of blepharospasm and opacity in the OS of 1 weeks' duration. Ophthalmic examination findings were consistent with acute uveitis in the OS, and traditional treatment was initiated with systemic antibiotics and anti-inflammatory drugs, topical mydriatics, and corticosteroids. During the total treatment period of 4 weeks response to treatment was weak and the horse developed further problems such as cellulitis of the right hind limb with fever and eventually weight loss and dependent edema. Blood work was indicative of liver disease. Abdominal sonography revealed severe splenomegaly and slight hepatomegaly, and a liver biopsy confirmed malignant T-cell lymphoma. The horse was euthanized due to deteriorating general condition and subsequently underwent postmortem examination. Necropsy and histologic examination revealed a multicentric lymphoma with involvement of spleen, mesenteric lymph nodes, and OU. The findings in this case demonstrate that the differential diagnosis of intraocular and systemic lymphoma should be considered in any horse presenting with anterior uveitis, especially when uveitis is unresponsive to treatment and when additional systemic signs of illness such as lethargy, fever, weight loss, or dependent edema arise. Cytological examination of aqueous humor may provide a rapid diagnosis of intraocular lymphoma in eyes with clinical uveitis.

  12. Liver dysfunction in residents exposed to leachate from a toxic waste dump.

    PubMed

    Meyer, C R

    1983-02-01

    It has been estimated that there are some 30,000 chemical waste dumps in the United States. Many of these landfill operations were undertaken in the early 1950s and 1960s, when knowledge regarding the safe and prolonged containment of the waste buried was nonexistent or minimal at best. As a result, many of these dump sites were located in areas that were geologically unsuitable for toxic chemical wastes. The Love Canal area in Niagara Falls, NY, is probably the best known of these dump sites. While a few of these sites have attracted wide media coverage, the availability of objective scientific information regarding the health effects of such sites has been deficient. The present study of a large toxic waste dump located in Hardeman County, TN, its contamination of surface and underground aquifers and the health effects on the area residents exposed via ingestion of contaminated water, offers the first objective evidence of organ dysfunction in such a human population. During this study comprehensive evaluation of that population revealed multiple symptoms, evidence of hepatomegaly and elevated liver function tests apparently caused by ingestion of water contaminated by numerous organic chemicals, many of which are known to be hepatotoxins.

  13. Development of Dengue Infection Severity Score

    PubMed Central

    Pongpan, Surangrat; Tawichasri, Chamaiporn; Namwongprom, Sirianong

    2013-01-01

    Objectives. To develop a simple scoring system to predict dengue infection severity based on patient characteristics and routine clinical profiles. Methods. Retrospective data of children with dengue infection from 3 general hospitals in Thailand were reviewed. Dengue infection was categorized into 3 severity levels: dengue infection (DF), dengue hemorrhagic fever (DHF), and dengue shock syndrome (DSS). Coefficients of significant predictors of disease severity under ordinal regression analysis were transformed into item scores. Total scores were used to classify patients into 3 severity levels. Results. Significant clinical predictors of dengue infection severity were age >6 years, hepatomegaly, hematocrit ≥40%, systolic pressure <90 mmHg, white cell count >5000 /μL, and platelet ≤50000 /μL. The derived total scores, which ranged from 0 to 18, classified patients into 3 severity levels: DF (scores <2.5, n = 451, 58.1%), DHF (scores 2.5–11.5, n = 276, 35.5%), and DSS (scores >11.5, n = 50, 6.4%). The derived score correctly classified patients into their original severity levels in 60.7%. An under-estimation of 25.7% and an over-estimation of 13.5% were clinically acceptable. Conclusions. The derived dengue infection severity score classified patients into DF, DHF, or DSS, correctly into their original severity levels. Validation of the score should be reconfirmed before application of routine practice. PMID:24324896

  14. An outbreak of Chlamydophila psittaci in an outdoor colony of Magellanic penguins (Spheniscus magellanicus).

    PubMed

    Jencek, Jacqueline E; Beaufrère, Hugues; Tully, Thomas N; Garner, Michael M; Dunker, Freeland H; Baszler, Timothy V

    2012-12-01

    An outbreak of Chlamydophila psittaci occurred in an outdoor colony of 63 Magellanic penguins (Spheniscus magellanicus) at the San Francisco Zoo. Affected penguins presented with inappetence, lethargy, and light green urates. Hematologic and serum biochemical findings were consistent with chronic inflammation. Penguins did not respond to initial supportive and antimicrobial therapy, and 3 died. Necropsy results of the 3 birds revealed hepatomegaly and splenomegaly, and histologic lesions included necrotizing hepatitis, splenitis, and vasculitis. Chlamydophila psittaci infection was confirmed by results of Gimenez staining, immunohistochemistry, and tissue polymerase chain reaction assay. As additional birds continued to present with similar clinical signs, the entire colony of penguins was prophylactically treated with a 30-day minimum course of doxycycline, administered orally or intramuscularly or as a combination of both. Despite treatment, 9 additional penguins died during a 3-month period. Pathologic results from these birds revealed renal and visceral gout (n = 4), cardiac insufficiency (n = 2), sepsis from a suspected esophageal perforation (n = 2), and no gross lesions (n = 1). During the outbreak, 4 birds presented with seizures, 5 developed dermatitis, and nearly 90% of birds in the colony showed severe keratoconjunctivitis, believed to be related to drug therapy with doxycycline. We report the clinical and pathologic features of Chlamydophila psittaci infection in an outdoor colony of penguins and the associated challenges of treatment.

  15. Activating CAR and β-catenin induces uncontrolled liver growth and tumorigenesis.

    PubMed

    Dong, Bingning; Lee, Ju-Seog; Park, Yun-Yong; Yang, Feng; Xu, Ganyu; Huang, Wendong; Finegold, Milton J; Moore, David D

    2015-02-09

    Aberrant β-catenin activation contributes to a third or more of human hepatocellular carcinoma (HCC), but β-catenin activation alone is not sufficient to induce liver cancer in mice. Differentiated hepatocytes proliferate upon acute activation of either β-catenin or the nuclear xenobiotic receptor CAR. These responses are strictly limited and are tightly linked, since β-catenin is activated in nearly all of the CAR-dependent tumours generated by the tumour promoter phenobarbital. Here, we show that full activation of β-catenin in the liver induces senescence and growth arrest, which is overcome by combined CAR activation, resulting in uncontrolled hepatocyte proliferation, hepatomegaly and rapid lethality despite maintenance of normal liver function. Combining CAR activation with limited β-catenin activation induces tumorigenesis, and the tumours share a conserved gene expression signature with β-catenin-positive human HCC. These results reveal an unexpected route for hepatocyte proliferation and define a murine model of hepatocarcinogenesis with direct relevance to human HCC.

  16. Mixed Hepatoblastoma in a Young Male Adult: A Case Report and Literature Review

    PubMed Central

    Fiaschetti, Valeria; Fiori, Roberto; Gaspari, Eleonora; Crusco, Sonia; Simonetti, Giovanni

    2010-01-01

    Hepatoblastoma (HB) is a rare malignant tumour of the liver and usually occurs in the first three years of life. Most of these tumours arise in the embryo; hence it seems to be unusual that hepatoblastoma occurs in adults and is an exceptional cause of primary malignant liver tumour in adult patients. The diagnosis is often overlooked, and patients might be diagnosed at late stages of the disease at risk of increased mortality. In this paper we report a case of a 30-year-old man with mixed hepatoblastoma and abdominal pain, hepatomegaly and fever. The patient under went noninvasive diagnostic methods: duplex scanning, Computed Tomography (CT), and Magnetic Resonance imaging (MRI). In our experience, despite the important role of histological sample provided by biopsy in defining the diagnosis, very important was the role of MRI, more than ultrasonography and enhanced CT. The MRI detects tumor features as size, margins, and ratio with neighboring organs in order to get the best surgical approach. PMID:21113306

  17. Mortality of captive whooping cranes caused by eastern equine encephalitis virus

    USGS Publications Warehouse

    Dein, F.J.; Carpenter, J.W.; Clark, G.G.; Montali, R.J.; Crabbs, C.L.; Tsai, T.F.; Docherty, D.E.

    1986-01-01

    Of 39 captive whooping cranes (Grus americana), 7 died during a 7-week period (Sept 17 through Nov 4, 1984) at the Patuxent Wildlife Research Center, Laurel, Md. Before their deaths, 4 cranes did not develop clinical signs, whereas the other 3 cranes were lethargic and ataxic, with high aspartate transaminase, gamma-glutamyl transferase, and lactic acid dehydrogenase activities, and high uric acid concentrations. Necropsies indicated that the birds had ascites, intestinal mucosal discoloration, fat depletion, hepatomegaly, splenomegaly, and visceral gout. Microscopically, extensive necrosis and inflammation were seen in many visceral organs; the CNS was not affected. Eastern equine encephalitis (EEE) virus was isolated from specimens of the livers, kidneys, lungs, brains, and intestines of 4 of the 7 birds that died, and EEE virus-neutralizing antibody was detected in 14 (44%) of the 32 surviving birds. Other infectious or toxic agents were not found. Morbidity or mortality was not detected in 240 sandhill cranes (Grus canadensis) interspersed among the whooping cranes; however, 13 of the 32 sandhill cranes evaluated had EEE virus-neutralizing antibody. Of the 41 wild birds evaluated in the area, 3 (4%) had EEE virus-neutralizing antibody. Immature Culiseta melanura (the most probable mosquito vector) were found in scattered foci 5 km from the research center.

  18. Production of interleukins 4 and 10 in children with hepatic involvement in the course of Toxocara spp. infection.

    PubMed

    Mazur-Melewska, K; Figlerowicz, M; Cwalińska, A; Mikoś, H; Jończyk-Potoczna, K; Lewandowska-Stachowiak, M; Służewski, W

    2016-02-01

    Toxocara spp. infestations present with a wide spectrum of symptoms, from general inflammation of internal organs with eosinophilic granuloma formulation through ocular or brain involvement. There is also an asymptomatic form. The known factors that influence the clinical form of the disease are the intensity of the infestation, the localization of the larvae, the age of the patient, the efficiency of the immune system and the history of reinfection. The aim of our study was to evaluate the production of interleukins 4 (IL-4) and 10 (IL-10) in children in the course of Toxocara spp. infections with hepatic involvement. The analysis of peripheral leucocytes, eosinophils, immunoglobulin E, and IL-4 and IL-10 concentrations presented significantly higher values in children with radiologically confirmed liver granuloma than in uncomplicated hepatomegaly. Based on statistical analysis, we confirmed the IL-4/IL-10 ratio variation in the analysed groups: patients with liver lesions showed a ratio of <1, while children without granulomas had a ratio of >2. The relevant analysis confirmed a positive statistical correlation in both seropositive groups for IgE and IL-4, and only in the granuloma group for IgE and IL-10.

  19. Community-Acquired Methicillin-Resistant Pyogenic Liver Abscess

    PubMed Central

    Cherian, Joel; Singh, Rahul; Varma, Muralidhar; Vidyasagar, Sudha; Mukhopadhyay, Chiranjay

    2016-01-01

    Pyogenic liver abscesses are rare with an incidence of 0.5% to 0.8% and are mostly due to hepatobiliary causes (40% to 60%). Most are polymicrobial with less than 10% being caused by Staphylococcus aureus. Of these, few are caused by methicillin-resistant Staphylococcus aureus (MRSA) and fewer still by a community-acquired strain. Here we present a case study of a patient with a community-acquired MRSA liver abscess. The patient presented with fever since 1 month and tender hepatomegaly. Blood tests revealed elevated levels of alkaline phosphatase, C-reactive protein, erythrocyte sedimentation rate, and neutrophilic leukocytosis. Blood cultures were sterile. Ultrasound of the abdomen showed multiple abscesses, from which pus was drained and MRSA isolated. Computed tomography of the abdomen did not show any source of infection, and an amebic serology was negative. The patient was started on vancomycin for 2 weeks, following which he became afebrile and was discharged on oral linezolid for 4 more weeks. Normally a liver abscess is treated empirically with ceftriaxone for pyogenic liver abscess and metronidazole for amebic liver abscess. However, if the patient has risk factors for a Staphylococcal infection, it is imperative that antibiotics covering gram-positive organisms be added while waiting for culture reports. PMID:27540556

  20. An obscure case of hepatic subcapsular hematoma.

    PubMed

    Ndzengue, Albert; Hammoudeh, Fadi; Brutus, Pierre; Ajah, Ofem; Purcell, Roland; Leadon, Joseph; Rafal, Richard B; Balmir, Simon; Enriquez, Danilo A; Posner, Gerald L; Jaffe, Eric A; Chandra, Pradeep

    2011-04-13

    Spontaneous liver bleeding is often reported in preeclampsia. It is otherwise rare and has been linked to gross anatomical lesions and coagulopathy. We report a case of subcapsular hematoma of the liver without any apparent lesion and in the absence of coagulopathy. A 41-year-old male, paraplegic for 16 years, presented to the emergency department 3 days after sudden onset of right upper quadrant and shoulder pain. He had been on vitamins and 5,000 units subcutaneous heparin 12-hourly at the nursing home for the last month. He was in no distress, afebrile, with stable vitals. Physical examination showed a diverting colostomy, tender hepatomegaly and sacral decubiti. A fecal occult blood test was negative. There was spastic paraplegia below the level of T12. Two days after admission, the patient was afebrile and hemodynamically stable. PTT, PT, liver profile, BUN and creatinine were all normal, however his hemoglobin had dropped from 11.3 to 7.6 g/dl. An abdominal CT scan revealed an isolated 9.0 × 1.8 cm subcapsular hematoma. The patient received blood transfusion in the intensive care unit and was discharged 7 days later. In conclusion, spontaneous liver hemorrhage occurs in the nonobstetrical population in the setting of gross anatomical lesions or coagulopathy. This is the first report of an isolated subcapsular liver hematoma.

  1. Drug Reaction with Eosinophilia and Systemic Symptoms Syndrome Induced by Levetiracetam in a Pediatric Patient.

    PubMed

    Bayram, Ayşe Kaçar; Canpolat, Mehmet; Çınar, Salih Levent; Tahan, Fulya; Gumus, Hakan; Kumandaş, Sefer; Per, Hüseyin

    2016-02-01

    Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a rare, life-threatening hypersensitivity drug reaction. Patients present with cutaneous rash, fever, lymphadenopathy, hematologic abnormalities with eosinophilia and atypical lymphocytes, and visceral organ involvement. The prognosis of DRESS syndrome is related to the degree of end-organ damage, and the mortality rate is approximately 10%. We report a 9-year-old girl treated with only levetiracetam because of intracranial space occupying mass-related seizures. The patient developed pharyngitis accompanied by exudative membrane, bilateral cervical lymphadenopathy, tender hepatomegaly, skin rash, and fever after 19 days of levetiracetam therapy. Laboratory findings revealed leukocytosis, lymphocytosis with an atypical lymphocytosis, eosinophilia, thrombocytopenia, and elevated serum transaminases. Serologic studies of viruses were negative. The patient was diagnosed with DRESS syndrome and antiepileptic therapy was ceased immediately. The systemic signs and symptoms of the patient were improved after systemic steroid and antihistamine therapy. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: It is important that emergency physicians be aware of the possibility of DRESS syndrome when attending children that present with clinical viral infections. We would like to emphasize that obtaining a careful and detailed medication history is an essential part of clinical assessment for the diagnosis of DRESS syndrome. Copyright © 2016 Elsevier Inc. All rights reserved.

  2. Liver disease in rheumatoid arthritis and Sjøgren's syndrome. Prospective study using biochemical and serological markers of hepatic dysfunction.

    PubMed Central

    Webb, J; Whaley, K; MacSween, R N; Nuki, G; Dick, W C; Buchanan, W W

    1975-01-01

    Inter-relationships of biochemical and immunological tests of liver function have been studied in a prospective study of 216 patients with rheumatoid arthritis (RA), 32 patients with Sjogren's syndrome, and 27 patients with the sicca syndrome, and these results have been compared with those obtained 289 patients with osteoarthrosis or with a form of seronegative polyarthropathy. In general the prevalence of abnormalities in serum alkaline phosphatase, bromsulphthalein excretion, smooth muscle antibody, and mitochondrial antibody in the former three groups was higher than in patients with osteoarthrosis. Patients with Sjogren's syndrome with RA had a higher prevalence of abnormalities of bromsulphthalein excretion, salivary duct antibody than patients with the sicca syndrome. Patients with RA had a higher pervalence of rheumatoid factor than those with the sicca syndrome. Patients with a positive smooth muscle or mitochondrial antibody were found to have a higher prevalence of hepatomegaly and splenomegaly, of abnormal liver function tests, of other autoantibodies, and of histological abnromalitis of liver than those in whom these tests were negative. PMID:1092275

  3. Does Lysosomial Acid Lipase Reduction Play a Role in Adult Non-Alcoholic Fatty Liver Disease?

    PubMed Central

    Baratta, Francesco; Pastori, Daniele; Polimeni, Licia; Tozzi, Giulia; Violi, Francesco; Angelico, Francesco; Del Ben, Maria

    2015-01-01

    Lysosomal Acid Lipase (LAL) is a key enzyme involved in lipid metabolism, responsible for hydrolysing the cholesteryl esters and triglycerides. Wolman Disease represents the early onset phenotype of LAL deficiency rapidly leading to death. Cholesterol Ester Storage Disease is a late onset phenotype that occurs with fatty liver, elevated aminotransferase levels, hepatomegaly and dyslipidaemia, the latter characterized by elevated LDL-C and low HDL-C. The natural history and the clinical manifestations of the LAL deficiency in adults are not well defined, and the diagnosis is often incidental. LAL deficiency has been suggested as an under-recognized cause of dyslipidaemia and fatty liver. Therefore, LAL activity may be reduced also in non-obese patients presenting non-alcoholic fatty liver disease (NAFLD), unexplained persistently elevated liver transaminases or with elevation in LDL cholesterol. In these patients, it could be indicated to test LAL activity. So far, very few studies have been performed to assess LAL activity in representative samples of normal subjects or patients with NAFLD. Moreover, no large study has been carried out in adult subjects with NAFLD or cryptogenic cirrhosis. PMID:26602919

  4. A 3-Year-Old Girl with Recurrent Infections and Autoimmunity due to a STAT1 Gain-of-Function Mutation: The Expanding Clinical Presentation of Primary Immunodeficiencies

    PubMed Central

    Aldave Becerra, Juan Carlos; Cachay Rojas, Enrique

    2017-01-01

    We report a 3-year-old Peruvian girl, born to non-consanguineous parents. At the age of 8 months, she had a severe pneumonia complicated with empyema that required thoracic drainage and mechanical ventilation. Although no microorganisms were isolated, the patient recovered with broad-spectrum antibiotics. Since that date, she has presented multiple episodes of pneumonia and recurrent episodes of bronchospasm. At 1 year 5 months of age, the patient began with recurrent episodes of oropharyngeal, vaginal, and skin candidiasis, which improved transiently after using oral azole drugs. At 2.5 years of age, she was admitted with lupus-like syndrome, including serositis, hemolytic anemia, thrombocytopenia, and positive antinuclear (1:80) and dsDNA (1:10) autoantibodies. Available immunologic testing was not contributory. Imaging studies revealed bilateral ethmoidal sinusitis and mild hepatomegaly. Bone marrow analysis did not showed evidence of leukemia or myelodysplasia, while renal biopsy concluded mild mesangial proliferation. Genetic studies revealed a pathogenic heterozygous signal transducer and activator of transcription 1 gain-of-function mutation (WT/P293L). The clinical status and lung function of the patient has worsened progressively. She has not achieved an optimal response to therapy, including high-dose intravenous immunoglobulin, GM-CSF, prophylactic antibiotics and antifungal drugs, so we plan to perform hematopoietic stem cell transplantation. PMID:28367431

  5. Predictors of non-alcoholic fatty liver disease in obese and overweight Egyptian children: single center study.

    PubMed

    el-Karaksy, Hanaa M; el-Koofy, Nehal M; Anwar, Ghada M; el-Mougy, Fatma M; el-Hennawy, Ahmed; Fahmy, Mona E

    2011-01-01

    Pediatric non-alcoholic fatty liver disease (NAFLD) is a global problem which has been increasingly recognized with the dramatic rise in pediatric obesity. The aim of the present study was to identify the clinical, sonographic, and biochemical predictors for NAFLD in obese children. Seventy-six children (2-15 years) were included after an informed consent. All were subjected to full anthropometric assessment (including height, weight, body mass index, subscapular skin fold thickness, waist and hip circumference and calculation of waist: hip ratio), biochemical assessment of liver function tests, lipid profile and insulin resistance and sonographic assessment of hepatic echogenicity. Liver biopsy when indicated, was done in 33 patients. Sixteen patients (21%) had elevated ALT and 6 (7.9%) had elevated AST. Significant dyslipidemia (low HDL-c, high total cholesterol, high LDL-c and triglycerides) and higher insulin resistance were found in obese patients (P<0.01). The main sonographic findings were hepatomegaly in 20 patients (26.3%) and echogenic liver in 41 patients (53.9%). Liver biopsy showed simple steatosis in eight cases (24.2%) and non-alcoholic steatohepatitis (NASH) in seven cases (21.2%). Anthropometric measurements, increased hepatic echogenicty by ultrasound, insulin resistance and lipid profile were good predictors of NAFLD in obese children if assessed together. However, LDL-c was the only sensitive predictor (independent variable) for NAFLD in both uni- and multivariate logistic regression analyses. Dyslipidemia per se is a strong predictor of NAFLD among obese Egyptian children.

  6. Mortality in patients presenting with fever of unknown origin.

    PubMed

    Vanderschueren, S; Eyckmans, T; De Munter, P; Knockaert, D

    2014-01-01

    Few data exist on the contemporary prognosis of patients presenting with fever of unknown origin (FUO). The data of 436 adult immunocompetent patients presenting with FUO between 2000 and 2010 and followed for at least 6 months were analyzed, with a focus on FUO-related deaths. The following variables were assessed in survivors and non-survivors: age, underlying diagnosis, and, in a nested case-control design, fever periodicity, selected laboratory parameters (including peripheral blood counts, enzymes, and inflammatory markers) and organomegaly. Thirty FUO-related deaths occurred (6·9%). Malignancy accounted for 11% of fevers but for 60% of deaths. Especially non-Hodgkin lymphoma carried a disproportionally high death toll. In the non-malignant categories, fatality rates were below 6%. All patients discharged without diagnosis in spite of ample investigations (n = 164) survived. Besides malignancy, age, continuous (as opposed to episodic) fever, anaemia, leucopenia, LDH levels, and hepatomegaly were associated with mortality. Fatality rates of FUO have continuously declined over the past decades. Malignancy, including lymphoma, remains a cardinal cause of death. Patients with FUO discharged without diagnosis survive.

  7. Hepatocellular adenomas associated with anabolic androgenic steroid abuse in bodybuilders: a report of two cases and a review of the literature.

    PubMed

    Socas, L; Zumbado, M; Pérez-Luzardo, O; Ramos, A; Pérez, C; Hernández, J R; Boada, L D

    2005-05-01

    Anabolic androgenic steroids (AAS) are used illicitly at high doses by bodybuilders. The misuse of these drugs is associated with serious adverse effects to the liver, including cellular adenomas and adenocarcinomas. We report two very different cases of adult male bodybuilders who developed hepatocellular adenomas following AAS abuse. The first patient was asymptomatic but had two large liver lesions which were detected by ultrasound studies after routine medical examination. The second patient was admitted to our hospital with acute renal failure and ultrasound (US) studies showed mild hepatomegaly with several very close hyperecogenic nodules in liver, concordant with adenomas at first diagnosis. In both cases the patients have evolved favourably and the tumours have shown a tendency to regress after the withdrawal of AAS. The cases presented here are rare but may well be suggestive of the natural course of AAS induced hepatocellular adenomas. In conclusion, sportsmen taking AAS should be considered as a group at risk of developing hepatic sex hormone related tumours. Consequently, they should be carefully and periodically monitored with US studies. In any case, despite the size of the tumours detected in these two cases, the possibility of spontaneous tumour regression must also be taken in account.

  8. Primary lipoprotein-lipase-activity deficiency: clinical investigation of a French Canadian population.

    PubMed Central

    Gagné, C; Brun, L D; Julien, P; Moorjani, S; Lupien, P J

    1989-01-01

    We examined 56 French Canadians, aged 1 week to 54 years, from eastern Quebec who were referred to the Laval University Lipid Research Centre and in whom coincidental finding (in 46% of the cases), abdominal pain (in 32%) or family screening (in 22%) led to the diagnosis of primary lipoprotein-lipase-activity deficiency (familial hyperchylomicronemia). Half of the patients had one or more of the following signs: lipemia retinalis, eruptive xanthomas, splenomegaly and hepatomegaly; the plasma triglyceride concentrations were significantly higher (greater than 40 mmol/L) among these patients than among those without clinical signs (mean 21.7 [standard deviation 13.5] mmol/L). The prevalence rate of this disorder was 30 times higher than the previously published rate and was highest in the counties of Charlevoix and Saguenay-Lac-St-Jean (200 and 100 cases per million respectively) because of the distinct demographic history of these areas. Because of a founder effect an autosomal recessive gene involved in lipoprotein-lipase expression or activation has probably been disseminated among this isolated French Canadian population. PMID:2914262

  9. Activating CAR and β-Catenin Induces Uncontrolled Liver Growth and Tumorigenesis

    PubMed Central

    Dong, Bingning; Lee, Ju-Seog; Park, Yun-Yong; Yang, Feng; Xu, Ganyu; Huang, Wendong; Finegold, Milton; Moore, David D.

    2014-01-01

    Aberrant β-catenin activation contributes to a third or more of human hepatocellular carcinoma (HCC), but β-catenin activation alone is not sufficient to induce liver cancer in mice. Differentiated hepatocytes proliferate upon acute activation of either β-catenin or the nuclear xenobiotic receptor CAR. These responses are strictly limited and are tightly linked, since β-catenin is activated in nearly all of the CAR-dependent tumors generated by the tumor promoter phenobarbital. Here we show that full activation of β-catenin in the liver induces senescence and growth arrest, which is overcome by combined CAR activation, resulting in uncontrolled hepatocyte proliferation, hepatomegaly, and rapid lethality despite maintenance of normal liver function. Combining CAR activation with limited β-catenin activation induces tumorigenesis, and the tumors share a conserved gene expression signature with β-catenin positive human HCC. These results reveal an unexpected route for hepatocyte proliferation and define a murine model of hepatocarcinogenesis with direct relevance to human HCC. PMID:25661872

  10. Paragonimiasis in Chinese Children: 58 Cases Analysis

    PubMed Central

    Xu, Hong Zhen; Tang, Lan Fang; Zheng, Xiao Ping; Chen, Zhi Min

    2012-01-01

    Objective To analyze the clinical and radiological features of paragonimiasis in children and raise the awareness of this disease. Methods A total of 58 paragonimiasis patients were reviewed. They were 42 boys and 16 girls aged 2.0 to 15.3 years. Findings Among these patients, 20 were diagnosed in the recent 5 years, 46 with a history of raw water or food ingestion. Except 2 patients without any complaint, the most common features involved the systemic (41, 70.7%) and respiratory systems (43, 74.1%), followed by abdominal, cardiac and nervous systems, with rash and mass. Eosinophilia was noted in 46 (79.3%) patients, granulocytosis in 45 (77.6%), anemia in 14 (24.1%), and thrombocytopenia in 3. Imageology showed pneumonia in 26 (44.8%) patients, pleurisy in 28 (48.3%), hydropericardium in 17 (29.3%), ascites in 16 (27.6%), and celiac lymphadenitis in 13 (22.4%). Besides hepatomegaly and splenomegaly, calcification and multiple lamellar low echogenic areas in the liver were noted, each in one patient. Abnormal brain imaging was noted in 4 of 10 patients. Karyocyte hyperplasia with eosinophilia was noted in all the 19 patients who received bone marrow puncture. Conclusion Paragonimiasis should be considered in the differential diagnosis of patients with multiple organs or system lesions, especially those with eosinophilia, serous cavity effusion, respiratory, cardiac, digestive system, nervous system abnormality, and/or mass. Healthy eating habit is helpful for paragonimiasis prevention. PMID:23430310

  11. Viral infections associated with haemophagocytic syndrome.

    PubMed

    Maakaroun, Nadine Rouphael; Moanna, Abeer; Jacob, Jesse T; Albrecht, Helmut

    2010-03-01

    Haemophagocytic syndrome (HPS) or haemophagocytic lymphohistiocytosis (HLH) is a rare disease caused by a dysfunction of cytotoxic T cells and NK cells. This T cell/NK cell dysregulation causes an aberrant cytokine release, resulting in proliferation/activation of histiocytes with subsequent haemophagocytosis. Histiocytic infiltration of the reticuloendothelial system results in hepatomegaly, splenomegaly, lymphadenopathy and pancytopenia ultimately leading to multiple organ dysfunctions. Common clinical features include high fevers despite broad spectrum antimicrobials, maculopapular rash, neurological symptoms, coagulopathy and abnormal liver function tests. Haemophagocytic syndrome can be either primary, i.e. due to an underlying genetic defect or secondary, associated with malignancies, autoimmune diseases (also called macrophage activation syndrome) or infections. Infectious triggers are most commonly due to viral infections mainly of the herpes group, with EBV being the most common cause. HPS can be fatal if untreated. Early recognition of the clinical presentation and laboratory abnormalities associated with HPS and prompt initiation of treatment can be life saving. HPS triggered by viral infections generally does not respond to specific antiviral therapy but may be treated with immunosuppressive/immunomodulatory agents and, in refractory cases, with bone marrow transplantation.

  12. High-output heart failure in a newborn

    PubMed Central

    Mascarenhas, Maria Inês; Moniz, Marta; Ferreira, Sofia; Goulão, Augusto; Barroso, Rosalina

    2012-01-01

    High-output cardiac failure is rare in newborns. Emergent diagnosis and management of this pathology is crucial. We report the case of a child, currently 12-months old; obstetric background is non-contributory. Clinic observation on D1 was normal except for the presence of a systolic cardiac murmur; cardiological evaluation revealed mild ventricular dysfunction of the right ventricle. On the third day of life, she developed cardiac failure with gallop rhythm, hepatomegaly and a murmur in the anterior fontanel; an echocardiogram confirmed clinic aggravation with biventricular dysfunction and right cavities and superior vena cava dilatation. The cranial MRI confirmed the presence of a pial arteriovenous malformation (AVM) involving the anterior and middle cerebral arteries with an associated fronto-parietal ischaemic lesion. The infant underwent embolisations of AVM with successful flow reduction and cardiac failure improvement. The multidisciplinary follow-up showed no cardiac dysfunction or permanent lesions but confirmed a severe psycho-motor delay and left hemiparesia. PMID:22783011

  13. Acute lymphoblastic leukemia in the Department of Child Health, School of Medicine, University of North Sumatera/Dr. Pirngadi Hospital Medan (1980-1988).

    PubMed

    Arifin, Z; Nasution, F; Sutjipto, A

    1991-01-01

    A retrospective study on acute lymphoblastic leukemia (ALL) was conducted to assess the pattern of childhood ALL at the Subdivision of Pediatric of Hematology, School of Medicine, University of North Sumatera/Dr. Pirngadi Hospital, Medan, in a period of 8 years (1980-1988). There were 120 cases, consisting of 63 (52.5%) males and 57 (47.5%) females. By the FAB classification (Bennett, 1976) (77.5%) were found as FAB L 1, 25 (20.8%) as FAB L 2, and 2 (1.7%) as FAB L 3. The youngest was 4 months old. The majority of signs and symptoms appeared in the forms of pallor 102 (85%), fever 84 (70%), hemorrhage 52 (43.3%), hepatomegaly 64 (53.3%), splenomegaly 54 (45%) and lymphadenopathy 18 (15%). On first admission, 76 (63.33%) cases were with a leukocyte count of less than 20,000/microliters, and 72 (60%) with Hb content of less than 5 g/dl. Twenty one cases died in the first year. The received cytostatic protocol; 11 (52.38%) were treated regularly and first remission were found in 8 (72.73%) cases. The average of admissions per year for the age group of 2-8 years was higher than the age groups of 0-2 years and 8-16 years (p less than 0.05).

  14. The pattern of thalassemia in children at the Department of Child Health, School of Medicine University of North Sumatera/Dr. Pirngadi Hospital, Medan.

    PubMed

    Sinulingga, S; Loebis, I F; Sutjipto, A

    1991-01-01

    A study of the characteristics of childhood thalassemia was conducted at the Sub Department of Pediatric Hematology, Dr. Pirngadi Hospital from June 1979 to May 1989. There were 131 cases, consisting of 75 (57.25%) boys and 56 (42.75%) girls with an average of 12 admission every year. The predominant age group was 0-2 years, and the youngest was 3 months old. Javanese ethnic group appeared predominant in 36 (63.15%) cases. Clinical symptoms of anemia were found in 112 (85.49%), hepatomegaly in 91 (69.46%), hepatosplenomegaly in 84 (64.12%), without enlargement of organ in 17 (12.97%), and icterus in 6 (4.58%). Hb-Electrophoresis was done in 42 cases, revealing 26 (61.90%) with thalassemia major, 15 (35.71%) Hb E thalassemia, and 1 (2.20%) Hb H thalassemia. Hb value at the first admission in 65 (49.62%) was less than 5 g/dl, in 63 (48.09%) it was 5-10 g/dl and in 3 (2.29%) more than 10 g/dl.

  15. Clinical features of severe malnutrition at the pediatric ward of Tembakau Deli Hospital, Medan.

    PubMed

    Panggabean, G; Faisal; Nasution, R; Loebis, M S; Siregar, Z

    1990-01-01

    Six hundred and fifty seven hospitalized patients under five in Child Health Department Hospital Tembakau Deli Medan, from January 1988 until December 1988 had been investigated retrospectively. Severe PCM are found 12 (1.8%), consisting of 7 (58.3%) boys and 5 (41.7%) girls. Most cases were found at the age of 1-2 years (33.3%). Marasmus were found in 5 cases (41.7%), Marasmic kwashiorkor in 4 (54%), while Kwashiorkor in 3 cases (25%). Clinical features of the patients are as follow: hepatomegaly 7 (58.3%), anorexia 6 (50%), old man face 5 (41.7%), subcutaneous fat decrease 5 (41.7%), thinsparse easily pick hairs 5 (41.7%), muscle hypotrophy 5 (41.7%), edema of the lower extremity 4 (33.3%), crazy pavement dermatosis 2 (16.7%). All patients were hospitalized combined with other diseases as chronic diarrhea 6 (50%), bronchopneumonia 5 (41.7%) and ascariasis 4 (33.3%). Mortality in 1 patient.

  16. [Heart failure as early manifestation of neonatal hyperthyroidism. Case report].

    PubMed

    Alvarado S, Jorge Luis; Fernández V, Zhirly Andrea

    2014-04-01

    Neonatal hyperthyroidism is usually a self-limited condition frequently associated with transplacental passage of thyroid stimulating antibodies secondary to maternal autoimmune disorders. To timely detect mothers with this medical antecedents decreases the risk for fetal adverse events. To report a case of neonatal hyperthyroidism associated with intrauterine growth restriction and heart failure. A 36 week-old newborn with birth weight of 1,240 g. Symptoms were tachycardia, distal coldness, exophthalmos, hepatomegaly and tremors. Echocardiogram ruled out structural heart disorders. Due to maternal symptoms suggestive of hyperthyroidism, TSH tests were performed showing 0.01 ulU/ml, free T4 7.7 ng/dl, so the diagnosis of neonatal hyperthyroidism was confirmed. It was treated with methimazole and propanol, alleviating the symptoms and decreasing the levels of free T4. To know the maternal history helps identify and manage neonatal complications of hyperthyroidism. Heart failure and other cardiopulmonary disorders are determinants of mortality during early neonatal period. High-risk newborns should receive follow up assessments.

  17. Cholestasis and protein-losing enteropathy secondary to hyperthyroidism in a 6-year-old girl.

    PubMed

    Gargouri, Lamia; Charfi, Manel; Maalej, Bayen; Majdoub, Imen; Safi, Faiza; Fourati, Hela; Hentati, Yosr; Daoud, Emna; Mnif, Zeineb; Abid, Mohamed; Mahfoudh, Abdelmajid

    2014-09-01

    Hepatic dysfunctions are not infrequent in patients with hyperthyroidism. These disorders may be related to the effects of the excess thyroid hormone secretion, to the uses of antithyroid drugs, or to the presence of concomitant hepatic diseases. Our aim is to describe the clinical and biochemical features of liver dysfunction related to thyrotoxicosis. We report here a case of a 6-year-old girl who was admitted for jaundice and pruritus as a result of the development of hyperthyroidism due to Graves' disease. On physical examination at admission, she was found to have jaundice and hepatomegaly. Laboratory data show cholestasis and protein-losing enteropathy. Investigations exclude other causes of hepatic disorder. One month after the initiation of antithyroid drug, the patient became euthyroid with improvement in jaundice and pruritus and normalization of hepatic tests and alpha antitrypsine clearance. In conclusion, the diagnosis of hyperthyroidism may be delayed in patients in whom the primary manifestations were pruritus and jaundice. The physician should suspect thyrotoxicosis prior to hepatitis or skin manifestations.

  18. Systemic correction of storage disease in MPS I NOD/SCID mice using the sleeping beauty transposon system.

    PubMed

    Aronovich, Elena L; Bell, Jason B; Khan, Shaukat A; Belur, Lalitha R; Gunther, Roland; Koniar, Brenda; Schachern, Patricia A; Parker, Josh B; Carlson, Cathy S; Whitley, Chester B; McIvor, R Scott; Gupta, Pankaj; Hackett, Perry B

    2009-07-01

    The Sleeping Beauty (SB) transposon system is a nonviral vector that directs transgene integration into vertebrate genomes. We hydrodynamically delivered SB transposon plasmids encoding human alpha-L-iduronidase (hIDUA) at two DNA doses, with and without an SB transposase gene, to NOD.129(B6)-Prkdc(scid) IDUA(tm1Clk)/J mice. In transposon-treated, nonobese diabetic/severe combined immunodeficiency (NOD/SCID) mice with mucopolysaccharidosis type I (MPS I), plasma IDUA persisted for 18 weeks at levels up to several hundred-fold wild-type (WT) activity, depending on DNA dose and gender. IDUA activity was present in all examined somatic organs, as well as in the brain, and correlated with both glycosaminoglycan (GAG) reduction in these organs and level of expression in the liver, the target of transposon delivery. IDUA activity was higher in the treated males than in females. In females, omission of transposase source resulted in significantly lower IDUA levels and incomplete GAG reduction in some organs, confirming the positive effect of transposition on long-term IDUA expression and correction of the disease. The SB transposon system proved efficacious in correcting several clinical manifestations of MPS I in mice, including thickening of the zygomatic arch, hepatomegaly, and accumulation of foamy macrophages in bone marrow and synovium, implying potential effectiveness of this approach in treatment of human MPS I.

  19. Systemic Correction of Storage Disease in MPS I NOD/SCID Mice Using the Sleeping Beauty Transposon System

    PubMed Central

    Aronovich, Elena L; Bell, Jason B; Khan, Shaukat A; Belur, Lalitha R; Gunther, Roland; Koniar, Brenda; Schachern, Patricia A; Parker, Josh B; Carlson, Cathy S; Whitley, Chester B; McIvor, R Scott; Gupta, Pankaj; Hackett, Perry B

    2009-01-01

    The Sleeping Beauty (SB) transposon system is a nonviral vector that directs transgene integration into vertebrate genomes. We hydrodynamically delivered SB transposon plasmids encoding human α-L-iduronidase (hIDUA) at two DNA doses, with and without an SB transposase gene, to NOD.129(B6)-Prkdcscid IDUAtm1Clk/J mice. In transposon-treated, nonobese diabetic/severe combined immunodeficiency (NOD/SCID) mice with mucopolysaccharidosis type I (MPS I), plasma IDUA persisted for 18 weeks at levels up to several hundred–fold wild-type (WT) activity, depending on DNA dose and gender. IDUA activity was present in all examined somatic organs, as well as in the brain, and correlated with both glycosaminoglycan (GAG) reduction in these organs and level of expression in the liver, the target of transposon delivery. IDUA activity was higher in the treated males than in females. In females, omission of transposase source resulted in significantly lower IDUA levels and incomplete GAG reduction in some organs, confirming the positive effect of transposition on long-term IDUA expression and correction of the disease. The SB transposon system proved efficacious in correcting several clinical manifestations of MPS I in mice, including thickening of the zygomatic arch, hepatomegaly, and accumulation of foamy macrophages in bone marrow and synovium, implying potential effectiveness of this approach in treatment of human MPS I. PMID:19384290

  20. Blind liver biopsy in children--diagnostic significance and complications in authors' own material.

    PubMed

    Lebensztejn, D M; Kaczmarski, M; Sobaniec-Łotowska, M; Barwijuk-Machała, M

    2000-01-01

    The purpose of the study is the analysis of liver biopsy performed in patients hospitalized at 3rd Department of Pediatric Diseases of Medical University in Białystok in 1993-1998 with particular regard to the assessment of indications and the incidence of complications connected with the procedure. The procedure was conducted on the group of 250 patients aged 1-17 years with the use of Menghini needles. The indications for diagnostic liver puncture included chronic infection with HBV (228 children), chronic infection with HCV (6 children), chronic hypertransaminasemia (13 children), hepatomegaly (2 children) and hyperbilirubinemia (1 child). Complications were observed in 3 patients (1.2%). Blind liver biopsy is an important diagnostic tool in pediatric hepatology but possible occurrence of life-threatening complications suggests that it be used with caution. The paper was presented as a part of hepatological session of XXVI Congress of Polish Pediatricians in Mikołajki on 6-9th June 1999.

  1. Serological evidence of infection with rodent-borne hepatitis E virus HEV-C1 or antigenically related virus in humans

    PubMed Central

    SHIMIZU, Kenta; HAMAGUCHI, Sugihiro; NGO, Cuong Chi; LI, Tian-Cheng; ANDO, Shuji; YOSHIMATSU, Kumiko; YASUDA, Shumpei P.; KOMA, Takaaki; ISOZUMI, Rie; TSUDA, Yoshimi; FUJITA, Hiromi; PHAM, Thuy Thanh; LE, Mai Quynh; DANG, Anh Duc; NGUYEN, Tuan Quang; YOSHIDA, Lay-Myint; ARIYOSHI, Koya; ARIKAWA, Jiro

    2016-01-01

    Zoonotic potential of a rat-derived hepatitis E virus (HEV), designated as HEV-C1, remains unknown. To evaluate the risk for HEV-C1 infection in humans, paired sera of 208 hospitalized febrile patients collected from 2001 to 2003 in Hanoi, Vietnam, were examined for IgG antibodies to HEV-C1 and genotype 1 HEV (HEV-1), which is common in humans. IgG antibodies to virus-like particles (VLPs) of HEV-C1 and/or HEV-1 were detected from 99 of the 208 convalescent sera in enzyme-linked immunosorbent assay (ELISA). IgG antibody titers to HEV-C1 antigen in 3 of the 99 sera were more than 8-fold higher than those to HEV-1 antigen. IgM antibodies to HEV-C1 antigen were detected in acute sera from 2 of the 3 patients in ELISA and Western blotting. However, no HEV genome was detected. Clinical information was available for 1 of the 2 patients. Hepatic enzymes, aspartate aminotransferase and alanine aminotransferase, were mildly elevated (156 IU/l and 68 IU/l, respectively), and hepatomegaly was detected by ultrasonography. The patient recovered from the illness after 17 days. These results indicated that HEV-C1 or its variants infect humans in Vietnam and may cause acute febrile illness with mild liver dysfunction. PMID:27499185

  2. An Animal Model for the Juvenile Non-Alcoholic Fatty Liver Disease and Non-Alcoholic Steatohepatitis.

    PubMed

    Marin, Veronica; Rosso, Natalia; Dal Ben, Matteo; Raseni, Alan; Boschelle, Manuela; Degrassi, Cristina; Nemeckova, Ivana; Nachtigal, Petr; Avellini, Claudio; Tiribelli, Claudio; Gazzin, Silvia

    2016-01-01

    Non Alcoholic Fatty Liver Disease (NAFLD) and Non-Alcoholic Steatohepatitis (NASH) are the hepatic manifestations of the metabolic syndrome; worrisome is the booming increase in pediatric age. To recreate the full spectrum of juvenile liver pathology and investigate the gender impact, male and female C57Bl/6 mice were fed with high fat diet plus fructose in the drinking water (HFHC) immediately after weaning (equal to 3-years old human), and disease progression followed for 16 weeks, until adults (equal to 30-years old human). 100% of subjects of both genders on HFHC diet developed steatosis in 4weeks, and some degree of fibrosis in 8weeks, with the 86% of males and 15% of females presenting a stage 2 fibrosis at 16weeks. Despite a similar final liver damage both groups, a sex difference in the pathology progression was observed. Alterations in glucose homeostasis, dyslipidemia, hepatomegaly and obese phenotype were evident from the very beginning in males with an increased hepatic inflammatory activity. Conversely, such alterations were present in females only at the end of the HFHC diet (with the exception of insulin resistance and the hepatic inflammatory state). Interestingly, only females showed an altered hepatic redox state. This juvenile model appears a good platform to unravel the underlying gender dependent mechanisms in the progression from NAFLD to NASH, and to characterize novel therapeutic approaches.

  3. Serum alpha-fetoprotein-positive gastric carcinoid with liver metastasis.

    PubMed

    Mori, H; Onji, M; Yoshida, A; Fukunishi, R

    1980-01-01

    The patient was a 60-year-old Japanese male. He complained of epigastralgia and right chest pain of 4 month's duration, and general malaise, nausea and vomiting of 2 month's duration. Physical examination revealed on the right third rib a tender mass with a diameter of 2 cm and hepatomegaly with a multi-nodular surface and red palms. There were no signs of carcinoid syndrome, such as cutaneous flushing. Laboratory examinations disclosed certain biochemical alterations; alkaline phosphatase 810 IU/l, gamma-glutamyl transpeptidase (gamma-GTP) 2090 IU/l, carcinoembryonic antigen (CEA) 23.5 ng/ml and alpha-fetoprotein (AFP) 6,800 ng/ml. Both HBs-Ag and HBs-Ab were negative. The patient died in a uremic state, with rapid increases of jaundice and ascites. Autopsy revealed gastric carcinoid with extensive metastases to the liver and the bone marrow. Tumor cells showed argyrophilia but not argentaffinity. Immunofluorescence specific for AFP was positive in the hepatocytes, particularly those adjacent to the metastatic tumor cells but not in the tumor cells, either primary or secondary. 79 cases reported in Japan of serum AFP-positive malignant tumor other than hepatocellular carcinoma and certain other malignancies of germ cell origin are reviewed and discussed.

  4. Ethical issues of unrelated hematopoietic stem cell transplantation in adult thalassemia patients

    PubMed Central

    2011-01-01

    Background Beta thalassemia major is a severe inherited form of hemolytic anemia that results from ineffective erythropoiesis. Allogenic hematopoietic stem cell transplantation (HSCT) remains the only potentially curative therapy. Unfortunately, the subgroup of adult thalassemia patients with hepatomegaly, portal fibrosis and a history of irregular iron chelation have an elevated risk for transplantation-related mortality that is currently estimated to be about 29 percent. Discussion Thalassemia patients may be faced with a difficult choice: they can either continue conventional transfusion and iron chelation therapy or accept the high mortality risk of HSCT in the hope of obtaining complete recovery. Throughout the decision making process, every effort should be made to sustain and enhance autonomous choice. The concept of conscious consent becomes particularly important. The patient must be made fully aware of the favourable and adverse outcomes of HSCT. Although it is the physician's duty to illustrate the possibility of completely restoring health, considerable emphasis should be put on the adverse effects of the procedure. The physician also needs to decide whether the patient is eligible for HSCT according to the "rule of descending order". The patient must be given full details on self-care and fundamental lifestyle changes and be fully aware that he/she will be partly responsible for the outcome. Summary Only if all the aforesaid conditions are satisfied can it be considered reasonable to propose unrelated HSCT as a potential cure for high risk thalassemia patients. PMID:21385429

  5. [Results of the treatment of nonlymphoblastic acute leukemia in a pediatric population].

    PubMed

    Rivera Luna, R; Ajuria Gottwald, E; Silva Sosa, M; González Chirinos, P

    1977-01-01

    On a prospective fashion during approximately two years, 22 pediatric patients with acute non lymphocytic leukemia were evaluated. Of this population the majority had acute mielocytic leukemia, followed by acute myelomonocytic leukemia. Absolutely all patients at the time of diagnosis and subsequently every 4 to 6 weeks had a bone marrow aspiration test. When the patients were first seen, 54% of them presented fever; lymph node enlargement was not a common finding. Only few of this patients presented splenomegaly and/or hepatomegaly. In regards to complete blood counts the most outstanding of its was the presence of leukocyte count above 20000/mm.3 in 8 of this patients. From the 22 patients studied only 21 are evaluable. All 21 patients were treated with a 4 drug combination (modified COAP). Sixteen patients (76%) achieved bone marrow remission, of which only 15 patients (71%) achieved complete remission. The median duration remission was of 9.2 months with a range of 2 to 26 months. At the present time only 7 patients (33%) are alive and on remission. Two more patients are alive but in full relapse. The mortality rate of this study is of 59%. The review of recent chemotherapy reports is presented and the need for further trials is emphasized especially in view of recent papers published in which it appears that better results are being obtained at last in children's acute non lymphocitic leukemia.

  6. Cyst infection in autosomal dominant polycystic kidney disease: causative microorganisms and susceptibility to lipid-soluble antibiotics.

    PubMed

    Suwabe, T; Araoka, H; Ubara, Y; Kikuchi, K; Hazue, R; Mise, K; Hamanoue, S; Ueno, T; Sumida, K; Hayami, N; Hoshino, J; Imafuku, A; Kawada, M; Hiramatsu, R; Hasegawa, E; Sawa, N; Takaichi, K

    2015-07-01

    Cyst infection is a frequent and serious complication of autosomal dominant polycystic kidney disease (ADPKD). Lipid-soluble antibiotics like fluoroquinolones show good penetration into cysts and are recommended for cyst infection, but causative microorganisms are often resistant to these agents. This study investigated the profile of the microorganisms causing cyst infection in ADPKD, their susceptibility to lipid-soluble antibiotics, and clinical outcomes. This retrospective study reviewed all ADPKD patients admitted to Toranomon Hospital with a diagnosis of cyst infection from January 2004 to March 2014. All patients who underwent cyst drainage and had positive cyst fluid cultures were enrolled. Patients with positive blood cultures who satisfied our criteria for cyst infection or probable infection were also enrolled. There were 99 episodes with positive cyst fluid cultures and 93 episodes with positive blood cultures. The majority of patients were on dialysis. The death rate was high when infection was caused by multiple microorganisms or when there were multiple infected cysts. Gram-negative bacteria accounted for 74-79 % of the isolates in all groups, except for patients with positive hepatic cyst fluid cultures. The susceptibility of Escherichia coli to fluoroquinolones was very low in patients with hepatic cyst infection, especially those with frequent episodes and those with hepatomegaly. Fungi were detected in two episodes. Fluoroquinolone-resistant microorganisms showed a high prevalence in cyst infection. It is important to identify causative microorganisms to avoid the overuse of fluoroquinolones and to improve the outcome of cyst infection in ADPKD.

  7. Successful treatment of severe cardiomyopathy in glycogen storage disease type III With D,L-3-hydroxybutyrate, ketogenic and high-protein diet.

    PubMed

    Valayannopoulos, Vassili; Bajolle, Fanny; Arnoux, Jean-Baptiste; Dubois, Sandrine; Sannier, Nathalie; Baussan, Christiane; Petit, François; Labrune, Philippe; Rabier, Daniel; Ottolenghi, Chris; Vassault, Anne; Broissand, Christine; Bonnet, Damien; de Lonlay, Pascale

    2011-12-01

    Glycogen storage disease type III (GSD III) due to debranching enzyme deficiency presenting usually with hepatomegaly and hypoglycemia may be responsible for severe cardiomyopathy which is often fatal. Current treatment of GSD III is based on frequent high-carbohydrate meals that have no effect on the cardiomyopathy. We describe a 2-mo-old infant presenting with a familial form of GSD III complicated with cardiomyopathy. As conventional treatment was unable to improve his sister's cardiomyopathy who was deceased at age 11 mo, we proposed an experimental treatment combining the use of synthetic ketone bodies (D,L-3-OH butyrate) as an alternative energy source, 2:1 ketogenic diet to reduce glucose intake and high-protein diet to enhance gluconeogenesis. Twenty-four months after the onset of this treatment, echocardiography showed an improvement of cardiomyopathy. Growth and liver size remained normal, and no side effects were observed. Blood glucose levels remained within the normal range and insulin levels decreased. These findings show that synthetic ketone bodies as well as low-carbohydrate, high-lipid, and high-protein diet may be a more beneficial therapeutic choice therapeutic choice for GSD III patients with cardiomyopathy. These encouraging data need to be confirmed in more GSD III patients presenting with cardiac or muscular symptoms.

  8. Biliary Atresia: 50 Years after the First Kasai

    PubMed Central

    Wildhaber, Barbara E.

    2012-01-01

    Biliary atresia is a rare neonatal disease of unknown etiology, where obstruction of the biliary tree causes severe cholestasis, leading to biliary cirrhosis and death in the first years of life, if the condition is left untreated. Biliary atresia is the most frequent surgical cause of cholestatic jaundice in neonates and should be evoked whenever this clinical sign is associated with pale stools and hepatomegaly. The treatment of biliary atresia is surgical and currently recommended as a sequence of, eventually, two interventions. During the first months of life a hepatoportoenterostomy (a “Kasai,” modifications of which are discussed in this paper) should be performed, in order to restore the biliary flow to the intestine and lessen further damage to the liver. If this fails and/or the disease progresses towards biliary cirrhosis and life-threatening complications, then liver transplantation is indicated, for which biliary atresia represents the most frequent pediatric indication. Of importance, the earlier the Kasai is performed, the later a liver transplantation is usually needed. This warrants a great degree of awareness of biliary atresia, and the implementation of systematic screening for this life-threatening pathology. PMID:23304557

  9. Primary hepatic amyloidosis: A case report and review of literature

    PubMed Central

    Sonthalia, Nikhil; Jain, Samit; Pawar, Sunil; Zanwar, Vinay; Surude, Ravindra; Rathi, Praveen M

    2016-01-01

    We describe a case of 42-year-old female presenting with abdominal pain associated with loss of weight and fever for 8 mo. On evaluation she had gross hepatomegaly with raised alkaline phosphatase and raised GGT levels with normal transaminases and bilirubin. On imaging she had diffuse enlargement of liver with heterogeneous contrast uptake in liver. Her viral marker and autoimmune markers were negative. Liver biopsy depicted massive deposition of amyloid in peri-sinusoidal spaces which revealed apple green birefringence on polarizing microscopy after Congo red staining. Cardiac and renal evaluation was unremarkable. Abdominal fat pad and rectum biopsy was negative for amyloid deposit. There was no evidence of primary amyloidosis as bone marrow examination was normal. Serum and urine immunofixation electrophoresis were normal. Immunoperoxidase staining for serum amyloid associated protein for secondary amyloidosis was negative from liver biopsy. We present this rare case of primary hepatic amyloidosis and review the literature regarding varied presentations of hepatic involvement in amyloidosis. PMID:26962400

  10. Toxic effects in C57B1/6 and DBA/2 mice following consumption of halogenated aromatic hydrocarbon-contaminated Great Lakes coho salmon (Oncorhynchus kisutch Walbaum).

    PubMed Central

    Cleland, G B; Leatherland, J F; Sonstegard, R A

    1987-01-01

    Diets containing coho salmon (Oncorhynchus kisutch Walbaum) from the Pacific Ocean or from Lakes Erie, Michigan, and Ontario [containing a gradation from low to high of halogenated aromatic hydrocarbons, (HAHs)] were fed to C57B1/6 and DBA/2 mice. Following a 4-month dietary exposure to Lake Ontario salmon, both strains of mice demonstrated hepatomegaly. The ethoxyresorufin-O-deethylase (ERR) enzyme levels were elevated in livers of C57B1/6 mice fed diets of salmon from all of the Great Lakes studied, with exceptionally high levels detected in C57B1/6 mice fed Lake Ontario salmon. Induction of ERR enzyme levels was detected in DBA/2 mice only following dietary exposure to Lake Ontario salmon. Serum levels of L-thyroxine (T4) and triiodo-L-thryonine (T3) were suppressed in C57B1/6 mice following consumption of Lake Ontario coho salmon, but T3 and T4 levels remained unchanged in DBA/2 mice. In general, pathobiological effects correlated with both dietary HAH exposure level and Ah receptor status. PMID:3691436

  11. CRISPR/Cas9-based Pten knock-out and Sleeping Beauty Transposon-mediated Nras knock-in induces hepatocellular carcinoma and hepatic lipid accumulation in mice.

    PubMed

    Gao, Mingming; Liu, Dexi

    2017-07-03

    Both Pten and Nras are downstream mediators of receptor tyrosine kinase activation that plays important roles in controlling cell survival and proliferation. Here, we investigated whether and how Pten loss cross-talks with Nras activation in driving liver cancer development in mice. Somatic disruption of hepatic Pten and overexpression of Nras were achieved in out-bred immunocompetent CD-1 mice through a hydrodynamic delivery of plasmids carrying Sleeping Beauty transposon-based integration of Nras and the CRISPR/Cas9-mediated Pten knockout system. Concurrent Pten knockout and Nras knock-in induced hepatocellular carcinoma, while individual gene manipulation failed. Tumor development was associated with liver fibrosis, hyperlipidemia, hepatic deposition of lipid droplets and glycogen, and hepatomegaly. At the molecular level, lipid droplet formation was primarily contributed by upregulated expression of genes responsible for lipogenesis and fatty acid sequestration, such as Srebpf1, Acc, Pparg and its downstream targets. Our findings demonstrated that Pten disruption was synergized by Nras overexpression in driving hepatocyte malignant transformation, which correlated with extensive formation of lipid droplets.

  12. The role of abdominal ultrasound in the diagnosis of typhoid fever: an observational study.

    PubMed

    Younis, Saeed Nadhim

    2014-01-01

    To study the usefulness of abdominal ultrasound in the diagnosis of typhoid fever and to determine the common ultrasound findings early in the course of the disease. Abdominal ultrasound examination was performed within the first week of initiation of symptoms in 350 cases with clinical diagnosis of typhoid fever. Subsequent ultrasound follow-up examination was done 15 days later (beginning of the third week). All the patients proved to have positive Widal test and Sallmonella culture. The study was performed in Erbil-Iraq from the period January 1993 to October 2010. The following ultrasound findings were reported: hepatomegaly (31.4%), prominent intrahepatic bile ducts (64.85%), splenomegaly (100%), mesenteric lymphadenopathy (42.85%), bowel wall thickening (35.71%), acalculous cholecystitis (16.28%), perforations (1.14%), and ascites in (3.4%). The current study showed that the findings are typical enough to justify initiation of treatment for typhoid fever when serology is equivocal and culture is negative, and is fairly safe to say that normal ultrasound examination early in the course of febrile illness rules out typhoid fever. Copyright © 2013 Elsevier Ltd. All rights reserved.

  13. Properties of a fluorescent bezafibrate derivative (DNS-X). A new tool to study peroxisome proliferation and fatty acid beta-oxidation.

    PubMed

    Berlot, J P; Lutz, T; Cherkaoui Malki, M; Nicolas-Frances, V; Jannin, B; Latruffe, N

    2000-12-01

    The first peroxisome proliferator-activated receptor (PPAR) was cloned in 1990 by Issemann and Green. Many studies have reported the importance of this receptor in the control of gene expression of enzymes involved in lipid metabolic pathways including mitochondrial and peroxisomal fatty acid beta-oxidation, lipoprotein structure [apolipoprotein (apo) A2, apo CIII], and fatty acid synthase. By using radiolabeled molecules, it was shown that peroxisome proliferators bind and activate PPAR. As an alternative method, we developed a fluorescent dansyl (1-dimethylaminonaphthalene-5-sulfonyl) derivative peroxisome proliferator from bezafibrate (DNS-X), a hypolipidemic agent that exhibits an in vitro peroxisome proliferative activity on rat Fao-hepatic derived cultured cells. However, until now, the effect of this new compound on the liver of animals and subcellular localization was unknown. In addition to in vivo rat studies, we present a more efficient large-scale technique of DNS-X purification. Treating rats (DNS-X in the diet at 0.3% w/w) for 6 d leads to a hepatomegaly and a marked increase in liver peroxisomal palmitoyl-CoA oxidase activity. We also developed a method to localize and quantify DNS-X in tissues or cell compartment organelles. The primarily cytosolic distribution of DNS-X was confirmed by direct visualization using fluorescence microscopy of cultured Fao cells. Finally, transfection assay demonstrated that DNS-X enhanced the PPAR alpha activity as well as other peroxisome proliferators do.

  14. Prevention of obesity in mice by antisense oligonucleotide inhibitors of stearoyl-CoA desaturase-1.

    PubMed

    Jiang, Guoqiang; Li, Zhihua; Liu, Franklin; Ellsworth, Kenneth; Dallas-Yang, Qing; Wu, Margaret; Ronan, John; Esau, Christine; Murphy, Cain; Szalkowski, Deborah; Bergeron, Raynald; Doebber, Thomas; Zhang, Bei B

    2005-04-01

    Effective therapies for the treatment of obesity, a key element of metabolic syndrome, are urgently needed but currently lacking. Stearoyl-CoA desaturase-1 (SCD1) is the rate-limiting enzyme catalyzing the conversion of saturated long-chain fatty acids into monounsaturated fatty acids, which are major components of triglycerides. In the current study, we tested the efficacy of pharmacological inhibition of SCD1 in controlling lipogenesis and body weight in mice. SCD1-specific antisense oligonucleotide inhibitors (ASOs) reduced SCD1 expression, reduced fatty acid synthesis and secretion, and increased fatty acid oxidization in primary mouse hepatocytes. Treatment of mice with SCD1 ASOs resulted in prevention of diet-induced obesity with concomitant reductions in SCD1 expression and the ratio of oleate to stearoyl-CoA in tissues and plasma. These changes correlated with reduced body adiposity, hepatomegaly and steatosis, and postprandial plasma insulin and glucose levels. Furthermore, SCD1 ASOs reduced de novo fatty acid synthesis, decreased expression of lipogenic genes, and increased expression of genes promoting energy expenditure in liver and adipose tissues. Thus, SCD1 inhibition represents a new target for the treatment of obesity and related metabolic disorders.

  15. A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments

    PubMed Central

    Stirnemann, Jérôme; Belmatoug, Nadia; Camou, Fabrice; Serratrice, Christine; Froissart, Roseline; Caillaud, Catherine; Levade, Thierry; Astudillo, Leonardo; Serratrice, Jacques; Brassier, Anaïs; Rose, Christian; Billette de Villemeur, Thierry; Berger, Marc G.

    2017-01-01

    Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of its substrate, glucosylceramide, in macrophages. In the general population, its incidence is approximately 1/40,000 to 1/60,000 births, rising to 1/800 in Ashkenazi Jews. The main cause of the cytopenia, splenomegaly, hepatomegaly, and bone lesions associated with the disease is considered to be the infiltration of the bone marrow, spleen, and liver by Gaucher cells. Type-1 Gaucher disease, which affects the majority of patients (90% in Europe and USA, but less in other regions), is characterized by effects on the viscera, whereas types 2 and 3 are also associated with neurological impairment, either severe in type 2 or variable in type 3. A diagnosis of GD can be confirmed by demonstrating the deficiency of acid glucocerebrosidase activity in leukocytes. Mutations in the GBA1 gene should be identified as they may be of prognostic value in some cases. Patients with type-1 GD—but also carriers of GBA1 mutation—have been found to be predisposed to developing Parkinson’s disease, and the risk of neoplasia associated with the disease is still subject to discussion. Disease-specific treatment consists of intravenous enzyme replacement therapy (ERT) using one of the currently available molecules (imiglucerase, velaglucerase, or taliglucerase). Orally administered inhibitors of glucosylceramide biosynthesis can also be used (miglustat or eliglustat). PMID:28218669

  16. Forced expression of fibroblast growth factor 21 reverses the sustained impairment of liver regeneration in hPPARα(PAC) mice due to dysregulated bile acid synthesis.

    PubMed

    Liu, Hui-Xin; Hu, Ying; French, Samuel W; Gonzalez, Frank J; Wan, Yu-Jui Yvonne

    2015-01-01

    Peroxisome proliferator activated receptor α (PPARα) stimulates hepatocellular proliferation is species-specific. Activation of mouse, but not human, PPARα induces hepatocellular proliferation, hepatomegaly, and liver cancer. Here we tested the hypothesis that human and mouse PPARα affects liver regeneration differentially. PPARα-humanized mice (hPPARα(PAC)) were similar to wild type mice in responding to fasting-induced PPARα signaling. However, these mouse livers failed to regenerate in response to partial hepatectomy (PH). The liver-to-body weight ratios did not recover even 3 months after PH in hPPARα(PAC). The mouse PPARα-mediated down-regulation of let-7c was absent in hPPARα(PAC), which might partially be responsible for impaired proliferation. After PH, hPPARα(PAC) displayed steatosis, necrosis, and inflammation mainly in periportal zone 1, which suggested bile-induced toxicity. Quantification of hepatic bile acids (BA) revealed BA overload with increased hydrophobic BA in hPPARα(PAC). Forced FGF21 expression in partial hepatectomized hPPARα(PAC) reduced hepatic steatosis, prevented focal necrosis, and restored liver mass. Compared to mouse PPARα, human PPARα has a reduced capacity to regulate metabolic pathways required for liver regeneration. In addition, FGF21 can compensate for the reduced ability of human PPARα in stimulating liver regeneration, which suggests the potential application of FGF21 in promoting hepatic growth in injured and steatotic livers in humans.

  17. Fatty liver and kidney syndrome in chicks. I. Effect of biotin in diet.

    PubMed

    Pearson, J A; Johnson, A R; Hood, R L; Fogerty, A C

    1976-12-01

    Fatty liver and kidney syndrome, a disorder of young chicks, was studied under laboratory conditions. Affected chicks had enlarged livers (hepatomegaly), an increased content of lipid in the liver, and an increased level of palmitoleic acid in the liver lipids. The disorder was observed mainly in chicks from young parent flocks, and was associated either with commerical diets which were subsequently found to be low in biotin, or with specially formulated low-biotin diets. A third factor, imposition of stress, was required to initiate the disorder. There was evidence of increased lipogenesis causing an increase of triacylglycerols in the liver lipids and an increased production of saturated fatty acids, particularly palmitic acid. Increased levels of palmitoleic acid resulted from an increased desaturation of palmitic acid. Under stress, affected chicks had low blood glucose levels, suggesting that gluconeogenesis was impaired. Since biotin-dependent enzymes are involved in both gluconeogenesis and lipogenesis, it would appear that the relevant enzymes respond differently to a deficiency of biotin.

  18. Constrictive pericarditis versus restrictive cardiomyopathy: challenges in diagnosis and management.

    PubMed

    Chinnaiyan, Kavitha M; Leff, Carrie B; Marsalese, Dominic L

    2004-01-01

    This is the case of a patient who presented with severe right-sided heart failure due to diastolic dysfunction that caused a dilemma of differential diagnosis between restrictive cardiomyopathy and constrictive pericarditis. Restrictive cardiomyopathy was diagnosed based on noninvasive and invasive hemodynamic testing. However, the patient did not respond to therapy and succumbed to worsening heart failure and multiple comorbidities. Clinical features of right heart failure with edema, ascites, jugular venous distention, and tender hepatomegaly are commonly seen in clinical practice. When systolic function is determined to be normal, diastolic causes of heart failure must be ruled out. These include myocardial disorders with a broad range of pathologies leading to restrictive physiology, of which amyloidosis is a prototype. Pericardial disorders leading to diastolic heart failure are usually in the form of constrictive physiology, when pericardial tamponade is ruled out. Differentiation between restrictive and constrictive pathologies is often difficult and requires careful attention to hemodynamic and Doppler echocardiographic features. We report a case of severe right heart failure illustrating some of the complexities in decision-making and the importance of meticulous hemodynamic and ancillary testing in the diagnosis and treatment of this often fatal condition.

  19. Computed tomography findings of hepatic veno-occlusive disease caused by Sedum aizoon with histopathological correlation

    PubMed Central

    Shao, H.; Chen, H. Z.; Zhu, J. S.; Ruan, B.; Zhang, Z. Q.; Lin, X.; Gan, M. F.

    2015-01-01

    This study investigated the value of computed tomography (CT) in the diagnosis and treatment of hepatic veno-occlusive disease (HVOD) caused by Sedum aizoon (SA). The clinical manifestations, treatment results, imaging findings, and histological findings of the liver were analyzed in 39 patients with HVOD caused by SA. Hepatomegaly, liver dysfunction, abdominal effusion, and geographic density changes on liver CT scans were found in all 39 patients. The pathological findings of histological liver examination included swelling and point-like necrosis of liver cells, significant expansion and congestion of the sinuses, endothelial swelling, and wall thickening with incomplete lumen occlusion of small liver vessels. CT geographic density changes were confirmed by histological examination of the liver in 18 patients. Sixteen patients with small amounts of ascites that started within 4 weeks of treatment recovered completely or significantly improved after symptomatic and supportive treatment. However, only 43.75% of the patients with larger amounts of ascites improved following symptomatic and supportive treatment. In conclusion, liver CT examination is a valuable, safe, and noninvasive tool for the diagnosis of HVOD caused by SA. In selected cases, liver CT examination may replace liver biopsy and histological analysis. PMID:26517336

  20. Divergent effects of glucose and fructose on hepatic lipogenesis and insulin signaling.

    PubMed

    Softic, Samir; Gupta, Manoj K; Wang, Guo-Xiao; Fujisaka, Shiho; O'Neill, Brian T; Rao, Tata Nageswara; Willoughby, Jennifer; Harbison, Carole; Fitzgerald, Kevin; Ilkayeva, Olga; Newgard, Christopher B; Cohen, David E; Kahn, C Ronald

    2017-10-03

    Overconsumption of high-fat diet (HFD) and sugar-sweetened beverages are risk factors for developing obesity, insulin resistance, and fatty liver disease. Here we have dissected mechanisms underlying this association using mice fed either chow or HFD with or without fructose- or glucose-supplemented water. In chow-fed mice, there was no major physiological difference between fructose and glucose supplementation. On the other hand, mice on HFD supplemented with fructose developed more pronounced obesity, glucose intolerance, and hepatomegaly as compared to glucose-supplemented HFD mice, despite similar caloric intake. Fructose and glucose supplementation also had distinct effects on expression of the lipogenic transcription factors ChREBP and SREBP1c. While both sugars increased ChREBP-β, fructose supplementation uniquely increased SREBP1c and downstream fatty acid synthesis genes, resulting in reduced liver insulin signaling. In contrast, glucose enhanced total ChREBP expression and triglyceride synthesis but was associated with improved hepatic insulin signaling. Metabolomic and RNA sequence analysis confirmed dichotomous effects of fructose and glucose supplementation on liver metabolism in spite of inducing similar hepatic lipid accumulation. Ketohexokinase, the first enzyme of fructose metabolism, was increased in fructose-fed mice and in obese humans with steatohepatitis. Knockdown of ketohexokinase in liver improved hepatic steatosis and glucose tolerance in fructose-supplemented mice. Thus, fructose is a component of dietary sugar that is distinctively associated with poor metabolic outcomes, whereas increased glucose intake may be protective.

  1. Ecstasy: an important cause of acute liver failure.

    PubMed

    Muddu, Ajay Kiran; Wright, Mark; Sheron, Nick

    2006-01-01

    A twenty year old female was referred to hospital by her GP, after he received the results of blood tests taken earlier in the day. She had presented to him complaining of malaise, nausea and anorexia over a 3 day period. On the day of referral she had also become jaundiced with dark urine, but normal stool colour. There was no abdominal pain. She had no significant past medical history with no history of jaundice, liver disease or autoimmune conditions, and no apparent risk factors for blood-borne hepatitis infection. There was no relevant family history. She was taking no prescribed medication, had not taken any over the counter medication or herbal remedies. She denied excessive alcohol use or use of intravenous drugs in the past, although she was not specifically questioned on the use of other recreational drugs. She was a single mother and admitted to being under considerable stress recently. On examination she appeared well, apart from marked jaundice. There were no signs of hepatic encephalopathy or chronic liver disease. Abdominal examination revealed mild left upper quadrant tenderness, but no significant hepatomegaly. Liver function tests (LFTs) taken by her GP are shown in Table 1, revealing marked elevation of the Alanine Transaminase (ALT) (Table 1), with a relatively preserved albumin. Unfortunately her International Normalised Ratio (INR) had not been measured. An Ultrasound of the abdomen demonstrated a normal size liver with normal contour and texture with no other abnormality.

  2. Molecular epidemiology of Brucella genotypes in patients at a major hospital in central Peru.

    PubMed

    Nöckler, Karsten; Maves, Ryan; Cepeda, David; Draeger, Angelika; Mayer-Scholl, Anne; Chacaltana, Jesus; Castañeda, María; Espinosa, Benjamin; Castillo, Rosa; Hall, Eric; Al Dahouk, Sascha; Gilman, Robert H; Cabeza, Franco; Smits, Henk L

    2009-10-01

    The multiple-locus variable-number repeat analysis of 90 human Brucella melitensis isolates from a large urban area in central Peru revealed variations at 4 (Bruce07, Bruce09, Bruce18, and Bruce42) out of 16 loci investigated, of which 1 (Bruce42) also is used for species identification. Ten genotypes were identified, separated by the number of Bruce42 repeats into two groups that may have distinct phenotypic characteristics. Whereas genotypes with five or six Bruce42 repeats were cultured mainly from adult patients, genotypes with three Bruce42 repeats were isolated from children and young adolescents as well as from adults. In addition, the isolates with three Bruce42 repeats were obtained more often from patients with splenomegaly (P = 0.02) or hepatomegaly (P = 0.006). An annual variation in the diversity of genotypes was observed, possibly reflecting changes in sources of fresh dairy products, supply routes to city shops and markets, and the movement of infected dairy goat herds.

  3. Acetylcysteine for Acetaminophen Poisoning

    PubMed Central

    Heard, Kennon J.

    2009-01-01

    A 25-year-old man presents to the emergency department with a toothache. During the evaluation, the physician determines that the patient has been taking large doses of over-the-counter acetaminophen along with an acetaminophen–hydrocodone product for the past 5 days. His daily dose of acetaminophen has been 12 g per day (maximum recommended dose, 4 g per day). He has no other medical problems and typically consumes two beers a day. The patient has no symptoms beyond his toothache, is not icteric, and has no hepatomegaly or right-upper-quadrant tenderness. His serum acetaminophen concentration 8 hours after the most recent dose is undetectable. His serum alanine aminotransferase concentration is 75 IU per liter, his serum bilirubin concentration is 1.2 mg per deciliter (20.5 μmol per liter), and his international normalized ratio (INR) is 1.1. The emergency department physician contacts the regional poison-control center, which recommends treatment with acetylcysteine. PMID:18635433

  4. Clinicopathological and ultrasonographic findings in 40 water buffaloes (Bubalus bubalis) with traumatic pericarditis.

    PubMed

    Mohamed, T

    2010-11-20

    Forty buffaloes with traumatic pericarditis were examined to characterise the ultrasonographic findings in buffaloes with traumatic pericarditis, determine the extent of the lesions and assess the prognosis. The most noticeable clinical presentations were presternal oedema (73 per cent) and jugular and mammary vein distension (88 per cent). Laboratory findings included neutrophilic leucocytosis, elevated total protein concentration, hypoalbuminaemia, hypergammaglobulinaemia and increased concentration of free fatty acids. Ultrasonographically, fluid in the pericardium appeared as either mild or massive anechoic accumulations containing fibrin threads or were imaged as homogenous, echogenic pericardial effusions. Moderate to severe corrugation of the reticular wall was observed. Deposits of fibrinous tissue interspersed with fluid pockets were seen between the reticulum, dorsal ruminal sac and diaphragm. Perireticular and mediastinal abscesses were imaged and appeared as echogenic lines with anechoic, echogenic, homogenous or heterogeneous contents. Additional ultrasonographic findings included hepatomegaly, dilation of the caudal vena cava, hepatic and portal veins, ascites, echogenic pleural effusions and vegetations of the tricuspid, mitral and pulmonary valves. The ultrasonographic findings were confirmed at postmortem examination.

  5. Occupational exposure to polychlorinated biphenyls in electrical workers. II. Health effects.

    PubMed Central

    Maroni, M; Colombi, A; Arbosti, G; Cantoni, S; Foa, V

    1981-01-01

    Health conditions were evaluated in 80 electrical workers exposed for many years to polychlorinated biphenyl (PCB) mixtures with a 42% mean chlorine content, who had blood PCB concentrations from 41 to 1319 micrograms/kg. The clinical study was based on personal history data, physical examination, and laboratory tests (red cell and leukocyte count; determination of haemoglobin, packed cell volume, bilirubin, serum protein electrophoretic fractions, pseudocholinesterase, AST, ALT, GGT, and OCT). Fifteen workers were found to have skin diseases--chloracne (4), folliculitis (4), oil dermatitis (1), juvenile acne (1), and dermatitis due to irritative or allergic agents (5). Sixteen workers showed more or less pronounced hepatic involvement, consisting most often of hepatomegaly with an increase in serum GGT, AST, ALT, and OCT values. In two workers bleeding cavernous haemangiomas were discovered, in one case associated with chronic myelocytic leukaemia. All the workers with chloracne were employed on electric capacitor impregnation with PCBs, and no definite association was found between chloracne and blood PCB concentrations. Conversely, a significant positive association was found between the abnormal liver findings and blood PCB concentrations, particularly trichlorobiphenyl blood concentrations. The abnormal hepatic findings observed are similar to those reported in experimental animals given PCBs, and in some workers such findings should probably be considered as clinical signs of hepatic microsomal enzyme induction. PMID:6451237

  6. Investigation and management of the hepatic glycogen storage diseases.

    PubMed

    Bhattacharya, Kaustuv

    2015-07-01

    The glycogen storage diseases (GSD) comprise a group of disorders that involve the disruption of metabolism of glycogen. Glycogen is stored in various organs including skeletal muscle, the kidneys and liver. The liver stores glycogen to supply the rest of the body with glucose when required. Therefore, disruption of this process can lead to hypoglycaemia. If glycogen is not broken down effectively, this can lead to hepatomegaly. Glycogen synthase deficiency leads to impaired glycogen synthesis and consequently the liver is small. Glycogen brancher deficiency can lead to abnormal glycogen being stored in the liver leading to a quite different disorder of progressive liver dysfunction. Understanding the physiology of GSD I, III, VI and IX guides dietary treatments and the provision of appropriate amounts and types of carbohydrates. There has been recent re-emergence in the literature of the use of ketones in therapy, either in the form of the salt D,L-3-hydroxybutyrate or medium chain triglyceride (MCT). High protein diets have also been advocated. Alternative waxy maize based starches seem to show promising early data of efficacy. There are many complications of each of these disorders and they need to be prospectively surveyed and managed. Liver and kidney transplantation is still indicated in severe refractory disease.

  7. Glycemic management in living donor liver transplantation for patients with glycogen storage disease type 1b.

    PubMed

    Karaki, Chiaki; Kasahara, Mureo; Sakamoto, Seisuke; Shigeta, Takanobu; Uchida, Hajime; Kanazawa, Hiroyuki; Kakiuchi, Toshihiko; Fukuda, Akinari; Nakazawa, Atsuko; Horikawa, Reiko; Suzuki, Yasuyuki

    2012-08-01

    GSD type 1b is an autosomal recessive inborn error of carbohydrate metabolism caused by defects of the G6Pase translocase (G6PT). Patients with GSD1b have severe hypoglycemia with several clinical manifestations of hepatomegaly, obesity, a doll-like face, and neutropenia. LT has been indicated for severe glucose intolerance. This study retrospectively reviewed glycemic management of eight children with a diagnosis of GSD1b who underwent liver transplantation (LDLT). Between November 2005 and September 2011, 172 children underwent LDLT, of which eight (4.7%) were indicated for GSD1b. Glucose-rich solution was placed in all children when preoperative fasting started to prevent preoperative hypoglycemia. During the reperfusion of graft, the glucose administration could significantly be reduced to maintain the proper blood glucose level, while the dosage of glucose administration prior to reperfusion of graft was significantly higher in the patients with GSD1b in comparison with patients with BA. The current series also showed significantly high incidence of infectious complications in the patients with GSD1b owing to persistent neutropenia after LDLT. All patients are doing well with an excellent quality of life owing to the stabilization of glucose intolerance. This current study clearly documented drastic change in glycemic management in LDLT. Cautious perioperative management to prevent hypoglycemia and infection is crucial for successful LT. © 2012 John Wiley & Sons A/S.

  8. Glycogen storage disease type I: clinical and laboratory profile.

    PubMed

    Santos, Berenice L; Souza, Carolina F M de; Schuler-Faccini, Lavinia; Refosco, Lilia; Epifanio, Matias; Nalin, Tatiele; Vieira, Sandra M G; Schwartz, Ida V D

    2014-01-01

    To characterize the clinical, laboratory, and anthropometric profile of a sample of Brazilian patients with glycogen storage disease type I managed at an outpatient referral clinic for inborn errors of metabolism. This was a cross-sectional outpatient study based on a convenience sampling strategy. Data on diagnosis, management, anthropometric parameters, and follow-up were assessed. Twenty-one patients were included (median age 10 years, range 1-25 years), all using uncooked cornstarch therapy. Median age at diagnosis was 7 months (range, 1-132 months), and 19 patients underwent liver biopsy for diagnostic confirmation. Overweight, short stature, hepatomegaly, and liver nodules were present in 16 of 21, four of 21, nine of 14, and three of 14 patients, respectively. A correlation was found between height-for-age and BMI-for-age Z-scores (r=0.561; p=0.008). Diagnosis of glycogen storage disease type I is delayed in Brazil. Most patients undergo liver biopsy for diagnostic confirmation, even though the combination of a characteristic clinical presentation and molecular methods can provide a definitive diagnosis in a less invasive manner. Obesity is a side effect of cornstarch therapy, and appears to be associated with growth in these patients. Copyright © 2014 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

  9. A ten year (1999-2008) retrospective study of amoebiasis in University Malaya Medical Centre (UMMC), Kuala Lumpur, Malaysia.

    PubMed

    Farhana, F; Jamaiah, I; Rohela, M; Abdul-Aziz, N M; Nissapatorn, V

    2009-12-01

    This is a ten year (1999-2008) retrospective study of amebiasis in patients admitted to UMMC. A total of 34 cases were analyzed. The most common were amebic liver abscess 22(65%) and the rest were amoebic dysentery 12(35%). Majority of the cases occurred among Malaysians 29(85%), with Chinese 14(41%), followed by the Malays 9(26%) and the Indians 6(18%). Foreigners made up of one Indonesian, one Pakistani and three Myanmarese and constituted 5(15%) of the total cases. Males 24(71%) were more commonly affected. Most of the cases occurred between the age group of 40-49 years, 8(23%) and 60 years and above, 8(23%). Age group of 20-50 years constituted 20(60%) of the cases. The most common clinical presentations were fever with chills and rigors 26(76%), diarrhoea 20 (59%), right hypochondrium pain 17(50%), abdominal pain 17(50%), hepatomegaly 16 (47%) and jaundice 7(20%). All were discharged well after treatment except for one case of death in a 69-year-old Chinese male with amebic liver abscess.

  10. Glycogen storage disease type 1b: an early onset severe phenotype associated with a novel mutation (IVS4) in the glucose 6-phosphate translocase (SLC37A4) gene in a Turkish patient.

    PubMed

    Oguz, M M; Aykan, E; Yilmaz, G; Aytekin, C; Karaer, K; Açoğlu, E A

    2014-01-01

    Glycogen storage disease type I (GSD-I) is a group of autosomal recessive disorders that include types Ia and Ib. GSD-Ib is caused by a deficiency in the glucose-6-phosphate transporter (G6PT) caused by a mutation in the SLC37A4 gene coding for G6PT. Glycogen storage disease is characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver and chronic neutropenia. Herein we describe a 4-month-old Turkish patient with early onset and severe typical clinical features of GSD-1b in which a novel mutation in the SLC37A4 gene was detected. After the bone marrow examination parenteral antibiotic therapy and subcutaneous granulocyte colony-stimulating factor (G-CSF) were started. Due to the severe neutropenia the patient had developed nosocomial sepsis and the dose of G-CSF was increased. After 2 months later from the initial treatment of the G-CSF he developed splenomegaly and urinary complications. Despite maximal therapy he had an extremely poor quality of life and life-threatening complications due to impaired bone marrow function. As the patient required continual hospitalization he was schedule for bone marrow transplantation.

  11. Ultrasonography as a tool in predicting the severity of dengue fever in children--a useful aid in a developing country.

    PubMed

    Bharath Kumar Reddy, K R; Laksmana, Ramesh R; Veerappa, Basavaraja G; Shivananda

    2013-08-01

    Dengue fever accounts for significant mortality in developing countries. Dengue fever serology takes a week at least to be reported positive, thus necessitating the need for other markers of diagnosis and prognosis. The purpose of this study was to investigate the role of ultrasonography as a tool in diagnosing and predicting the severity of dengue fever in children. This was a prospective study conducted in a tertiary pediatric centre from September 2010 to July 2012. Three hundred twenty-four children with confirmed dengue fever were compared with 422 children of suspected dengue fever. Severity of illness was graded as per WHO criteria and sonography findings were correlated to the grade of illness. Gallbladder wall thickening was seen in 75% of the children with confirmed dengue fever. A significant difference was seen between survivors and non-survivors with respect to pericholecystic fluid collection (P = 0.002), hepatic intraparenchymal fluid (P < 0.001), splenomegaly (P = 0.002), splenic subcapsular fluid (P < 0.001), peripancreatic fluid (P < 0.001), perirenal fluid (P < 0.001) and pericardial fluid (P < 0.001). Other findings included ascites, pleural effusion, hepatomegaly and splenomegaly, which were present irrespective of grade of illness. Ultrasonography can be used as a useful tool in developing countries to predict the severity of dengue fever in children.

  12. Glutaric aciduria type 2 presenting with acute respiratory failure in an adult

    PubMed Central

    Ersoy, Ebru Ortac; Rama, Dorina; Ünal, Özlem; Sivri, Serap; Topeli, Arzu

    2015-01-01

    Glutaric aciduria (GTA) type II can be seen as late onset form with myopathic phenotype. We present a case of a 19-year old female with progressive muscle weakness was admitted in intensive care unit (ICU) with respiratory failure and acute renal failure. Patient was unconscious. Pupils were anisocoric and light reflex was absent. She had hepatomegaly. The laboratory results showed a glucose level of 70 mg/dl and the liver enzymes were high. The patient also had hyponatremia (117 mEq/L) and lactate level of 3.9 mmol/L. Tandem MS and organic acid analysis were compatible with GTA type II. Carnitine 1gr, riboflavin 100 mg and co-enzymeQ10 100 mg was arranged. After four months from beginning of treatment tandem MS results are improved. Respiratory failure, acute renal failure due to profound proximal myopathy can be due to glutaric aciduria type II that responded rapidly to appropriate therapy. PMID:26236614

  13. Myasthenia gravis in a patient affected by glycogen storage disease type Ib: a further manifestation of an increased risk for autoimmune disorders?

    PubMed

    Melis, D; Balivo, F; Della Casa, R; Romano, A; Taurisano, R; Capaldo, B; Riccardi, G; Monsurrò, M R; Parenti, G; Andria, G

    2008-12-01

    Glycogen storage disease type Ib (GSD Ib, OMIM 232220) is an inborn disorder of glucose metabolism, caused by mutations in the G6PT gene, encoding a glucose 6-phosphate transporter (G6PT). GSD Ib is mainly associated with fasting hypoglycaemia and hepatomegaly. Most GSD Ib patients also show neutropenia and neutrophil dysfunction and therefore are at risk of developing severe infections and inflammatory bowel disease (IBD). An increased risk for autoimmune disorders, such as thyroid autoimmunity and Crohn-like disease, has also been demonstrated, but no systematic study on the prevalence of autoimmune disorders in GSD Ib patients has ever been performed. We describe a 25-year-old patient affected by GSD Ib who developed 'seronegative' myasthenia gravis (MG), presenting with bilateral eyelid ptosis, diplopia, dysarthria, severe dysphagia, dyspnoea and fatigue. The repetitive stimulation of peripheral nerves test showed signs of exhaustion of neuromuscular transmission, particularly evident in the cranial area. Even in the absence of identifiable anti-acetylcholine receptor antibodies, seronegative MG is considered an autoimmune disorder and may be related to the disturbed immune function observed in GSD Ib patients.

  14. Factors Associated with Growth Retardation in Children Suffering from Sickle Cell Anemia: First Report from Central Africa

    PubMed Central

    Ngiyulu, René Makuala; Gini-Ehungu, Jean Lambert; Mbuyi-Muamba, Jean Marie

    2017-01-01

    Background. The aim of this study was to investigate and determine the risk factors associated with poor growth among SCA children. Methods. A cross-sectional study was conducted in Kinshasa, the capital's country. The nutritional status was assessed using the Z scores of the anthropometric indices. Results. We gathered data on the 256 patients, 138 females (53.9%), who entered the study. The mean age at presentation was 8.4 ± 4.9 years of age. Underweight, stunting, and wasting were found, respectively, in 47.7%, 10.5%, and 50.3% of SCA children. A history of hand-foot syndrome, more than 3 blood transfusions, being less than 12 months of age when receiving the first transfusion, more than two severe sickle crises per year, a medical history of severe infections, and the presence of hepatomegaly were associated with poor growth. When comparing sickle cell patients under 12 years of age (n = 159) to a group of 296 age-matched children with normal Hb-AA, a significantly higher proportion of subjects with stunting and underweight were found among SCA. Conclusion. Nutritional status encountered in Congolese sickle cell children has been described for the first time in this study. A high prevalence of poor growth in SCA children was found in our study. PMID:28250985

  15. A Case of Fitz-Hugh-Curtis Syndrome Complicated by Appendicitis Conservatively Treated with Antibiotics

    PubMed Central

    Kazama, Itsuro; Nakajima, Toshiyuki

    2013-01-01

    A 27-year-old woman developed a low grade fever and increased vaginal discharge that persisted for 2 weeks. Intermittent abdominal pain in the right upper quadrant had been experienced over the previous few days. Due to her clinical manifestations and typical abdominal computed tomography (CT) findings, including hepatic capsular enhancement and hepatomegaly, a diagnosis of Fitz-Hugh-Curtis syndrome was made. The early empirical use of antibiotics, azithromycin and levofloxacin, partially improved her symptoms. However, the low grade fever persisted and additional abdominal pain developed in the right lower quadrant. Based on the radiological evidence of an enlarged appendix with wall thickening, a diagnosis of appendicitis was additionally made, which was thought to occur secondarily to the genital tract infection. Following the administration of antibiotics ceftriaxone and cefditoren pivoxil, her symptoms were completely resolved without the need for any surgical intervention. Here, we report the first case of Fitz-Hugh-Curtis syndrome complicated by appendicitis, which was conservatively managed with antibiotic treatment alone. In this case, the overgrowth of pathogens within the genital tract and their direct penetration into the appendix was thought to be responsible for the development of appendicitis. PMID:23515004

  16. Cx3cr1 deficiency in mice attenuates hepatic granuloma formation during acute schistosomiasis by enhancing the M2-type polarization of macrophages.

    PubMed

    Ran, Lin; Yu, Qilin; Zhang, Shu; Xiong, Fei; Cheng, Jia; Yang, Ping; Xu, Jun-Fa; Nie, Hao; Zhong, Qin; Yang, Xueli; Yang, Fei; Gong, Quan; Kuczma, Michal; Kraj, Piotr; Gu, Weikuan; Ren, Bo-Xu; Wang, Cong-Yi

    2015-07-01

    Acute schistosomiasis is characterized by pro-inflammatory responses against tissue- or organ-trapped parasite eggs along with granuloma formation. Here, we describe studies in Cx3cr1(-/-) mice and demonstrate the role of Cx3cr1 in the pathoetiology of granuloma formation during acute schistosomiasis. Mice deficient in Cx3cr1 were protected from granuloma formation and hepatic injury induced by Schistosoma japonicum eggs, as manifested by reduced body weight loss and attenuated hepatomegaly along with preserved liver function. Notably, S. japonicum infection induced high levels of hepatic Cx3cr1 expression, which was predominantly expressed by infiltrating macrophages. Loss of Cx3cr1 rendered macrophages preferentially towards M2 polarization, which then led to a characteristic switch of the host immune defense from a conventional Th1 to a typical Th2 response during acute schistosomiasis. This immune switch caused by Cx3cr1 deficiency was probably associated with enhanced STAT6/PPAR-γ signaling and increased expression of indoleamine 2,3-dioxygenase (IDO), an enzyme that promotes M2 polarization of macrophages. Taken together, our data provide evidence suggesting that CX3CR1 could be a viable therapeutic target for treatment of acute schistosomiasis.

  17. Imported Malaria in the Material of the Institute of Maritime and Tropical Medicine: A Review of 82 Patients in the Years 2002–2014

    PubMed Central

    Kuna, Anna; Gajewski, Michal; Szostakowska, Beata; Nahorski, Waclaw L.; Myjak, Przemyslaw; Stanczak, Joanna

    2015-01-01

    Malaria is, along with tuberculosis and HIV/AIDS, one of the three most dangerous infectious diseases in the world. In the absence of native cases since 1963, malaria has remained in Poland an exclusively imported disease, mainly occurring in people travelling to tropical and subtropical areas for professional reasons. The aim of this study was the epidemiological and clinical analysis of 82 patients admitted to the University Center for Maritime and Tropical Medicine (UCMTM), Gdynia, Poland, with a diagnosis of malaria between 2002 and 2014. The “typical” patient with malaria was male, middle-aged, returned from Africa within the preceding 4 weeks, had not used appropriate chemoprophylaxis, and had not applied nonpharmacological methods of prophylaxis, except for window insect screens. P. falciparum was the most frequent species. The most common symptoms included fever, shivers and intensive sweating, thrombocytopenia, elevated creatinine, LDH, D-dimers and CRP, hepatomegaly, and splenomegaly. Within the analyzed group, severe malaria according to WHO standards was diagnosed in 20.7% of patients. Our report presents analysis of the largest series of patients treated for imported malaria in Poland. PMID:26451382

  18. Impact of Placental Plasmodium falciparum Malaria on Pregnancy and Perinatal Outcome in Sub-Saharan Africa

    PubMed Central

    Uneke, Chigozie J.

    2008-01-01

    Placental malaria is recognized as a common complication of malaria in pregnancy in areas of stable transmission, and, as a consequence, serious health problems arise for the mother and especially her baby [1]. Although malaria in pregnancy is a major factor associated with adverse perinatal outcome, the link between malaria and perinatal morbidity/mortality is less clear in areas with stable endemic malaria where pregnant women have acquired immunity [2]. Histological examination of the placenta is a predictor of fetal morbidity, as well as being the most sensitive detector of maternal infection [3]. Adverse perinatal outcome has been described as an important indicator of poor quality of obstetric care and social development [4]. A variety of adverse perinatal outcomes associated with placental malaria have been described, including low birth weight, preterm delivery, intrauterine growth retardation, fetal anemia, congenital malaria, and fetal mortality. The most common clinical features in 80 percent of perinatal cases are fever, anemia, and splenomegaly [5]. Other signs and symptoms include hepatomegaly, jaundice, regurgitation, loose stools, poor feeding, and, occasionally, drowsiness, restlessness, and cyanosis also can be seen [5,6]. A review of studies that investigated these poor fetal outcomes associated with placental malaria in sub-Saharan Africa is presented here. PMID:18299721

  19. Radiologic evaluation of the liver and gastrointestinal tract in rats infected with Taenia taeniaeformis.

    PubMed

    Perry, R L; Williams, J F; Carrig, C B; Kaneene, J B; Schillhorn van Veen, T W

    1994-08-01

    In rats infected with the cestode Taenia taeniaeformis, hepatomegaly results from development of parasitic cysts in the liver. Diffuse nodular mucosal hyperplasia in the glandular region (corpus and antrum) of the stomach, and gross thickening of the intestinal mucosa also result. Between postinfection days (PID) 21 and 84, radiologic observations were made after oral administration of a barium sulfate suspension in T taeniaeformis-infected rats and in age/sex-matched controls. There was radiographic evidence of hepatic enlargement at PID 21. Enlargement of the gastric folds was first observed along the greater curvature of the stomach at PID 35. Fimbriation of small intestinal mucosal surfaces resulted from thickening of the intestinal villi and was observed in the duodenum at PID 21. Intestinal motility was assessed, and contractions were counted, using image intensification fluoroscopy, then were recorded on videotape. There were no significant differences between control and infected rats for gastric emptying time, intestinal transit time, and number of intestinal contractions per minute. Barium contrast radiography clearly indicated large gastric folds, thickening of the small intestinal villi, and hepatic enlargement, and was useful for assessing gastrointestinal motility.

  20. Abdominal Castleman disease with mixed histopathology in a patient with iron deficiency anemia, growth retardation and peliosis hepatis.

    PubMed

    Saritas, Ulku; Ustundag, Yucel; Isitan, Gokhan; Bastugrul, Settar; Erekul, Selim

    2006-01-01

    In Castleman disease, also known as giant lymph node hyperplasia, lesions are usually located in the chest. Peliosis hepatis is the presence of multiple blood-filled cysts in the liver. The combination of these two disorders in one patient is rare, with only three cases reported to date. We report the case of a 21-year-old man who presented with growth retardation and iron deficiency anemia. Work-up revealed hepatomegaly and multiple conglomerated giant lymph nodes near the splenic hilum. Once the mass was surgically removed, the patient's anemia rapidly resolved and he showed catch-up growth. The lymphoid tissue exhibited mixed histologic type, so the patient was diagnosed with both hyaline vascular type and plasma cell type Castleman disease. A liver biopsy obtained at surgery showed sinusoidal dilatation and blood-filled cysts, indicating peliosis hepatis. This is the fourth documented case of peliosis hepatis associated with Castleman disease. In addition to describing the case features, we discuss the possible pathogenesis of peliosis hepatis in the setting of Castleman disease.

  1. [SOME CLINICAL AND CYTOKINE FEATURES OF THE CLINICAL COURSE OF RECURRENT RESPIRATORY SYSTEM DISEASES IN CHILDREN WITH THE TOXOCARIASIS INVASION].

    PubMed

    Dralova, A; Usachova, E

    2015-12-01

    The aim of the present study was to analyze clinical and cytokine features of recurrent respiratory system diseases in children with toxocariasis. 50 children aged 1 to 17 years (mean age - 10±5 years) with recurrent current of respiratory system disorders were studied. During the survey such clinical manifestations of the respiratory system disorders as obstructive bronchitis (50%), bronchial asthma (30%), pneumonia (10%) and laryngotracheitis (10%) have been revealed. Statistical analysis of the results was performed using the software package STATISTICA 6.1 (SNANSOFT). We have shown that the disorders of respiratory system in case of toxocariasis invasion often occur with severe intoxication and bronchial obstruction syndromes, temperature reaction, respiratory insufficiency and hepatomegaly. A prolonged course of the disease has been noted. "Inflammatory" indicators of general blood analysis, such as leukocytosis and increased of ESR have been recorded in patients with respiratory system disorders in children with T.canis infection significantly more often, significant "allergic" laboratory changes were in the form of eosinophilia. High average levels of pro-inflammatory IL-6, as well as low levels of IL 5 have been determined in children suffering from the respiratory system disorders and with toxocariasis invasion in the anamnesis. The obtained findings require further study.

  2. Liver is a target of arsenic carcinogenesis.

    PubMed

    Liu, Jie; Waalkes, Michael P

    2008-09-01

    Inorganic arsenic is clearly a human carcinogen causing tumors of the skin, lung, urinary bladder, and possibly liver (IARC, 2004). At the time of construction of this monograph, the evidence for arsenic as a hepatocarcinogen in humans was considered controversial and in rodents considered insufficient. However, recent data has accumulated indicating hepatocarcinogenicity of arsenic. This forum reevaluates epidemiology studies, rodent studies together with in vitro models, and focuses on the liver as a target organ of arsenic toxicity and carcinogenesis. Hepatocellular carcinoma and hepatic angiosarcoma, have been frequently associated with environmental or medicinal exposure to arsenicals. Preneoplastic lesions, including hepatomegaly, hepatoportal sclerosis, fibrosis, and cirrhosis often occur after chronic arsenic exposure. Recent work in mice clearly shows that exposure to inorganic arsenic during gestation induces tumors, including hepatocellular adenoma and carcinoma, in offspring when they reach adulthood. In rats, the methylated arsenicals, dimethylarsinic acid promotes diethylnitrosamine-initiated liver tumors, whereas trimethylarsine oxide induces liver adenomas. Chronic exposure of rat liver epithelial cells to low concentrations of inorganic arsenic induces malignant transformation, producing aggressive, undifferentiated epithelial tumors when inoculated into the Nude mice. There are a variety of potential mechanisms for arsenical-induced hepatocarcinogenesis, such as oxidative DNA damage, impaired DNA damage repair, acquired apoptotic tolerance, hyperproliferation, altered DNA methylation, and aberrant estrogen signaling. Some of these mechanisms may be liver specific/selective. Overall, accumulating evidence clearly indicates that the liver could be an important target of arsenic carcinogenesis.

  3. An observational study of children with sickle cell disease in Kilifi, Kenya

    PubMed Central

    Sadarangani, Manish; Makani, Julie; Komba, Albert N; Ajala-Agbo, Tolu; Newton, Charles R; Marsh, Kevin; Williams, Thomas N

    2009-01-01

    Globally, sickle cell disease (SCD) has its highest prevalence and worst prognosis in sub-Saharan Africa. Nevertheless, relatively few studies describe the clinical characteristics of children with SCD in this region. We conducted a prospective observational study of children with SCD attending a specialist out-patient clinic in Kilifi, Kenya. A total of 124 children (median age 6·3 years) were included in the study. Splenomegaly was present in 41 (33%) subjects and hepatomegaly in 25 (20%), both being common in all age groups. A positive malaria slide was found at 6% of clinic visits. The mean haemoglobin concentration was 73 g/l, compared to 107 g/l in non-SCD controls (P < 0·001). Liver function tests were elevated; plasma bilirubin concentrations were 46 μmol/l and aspartate aminotransferase was 124 iu/l. Forty-eight (39%) children were admitted to hospital and two died. Children with SCD in Kilifi have a similar degree of anaemia and liver function derangement to patients living in developed countries, but splenomegaly persists into later childhood. The prevalence of malaria was lower than expected given the prevalence in the local community. This study provides valuable data regarding the clinical characteristics of children living with SCD in a rural setting in East Africa. PMID:19650883

  4. IgD multiple myeloma: Clinical, biological features and prognostic value of the serum free light chain assay.

    PubMed

    Djidjik, R; Lounici, Y; Chergeulaïne, K; Berkouk, Y; Mouhoub, S; Chaib, S; Belhani, M; Ghaffor, M

    2015-09-01

    IgD multiple myeloma (MM) is a rare subtype of myeloma, it affects less than 2% of patients with MM. To evaluate the clinical and prognostic attributes of serum free light chains (sFLCs) analysis, we examined 17 cases of IgD MM. From 1998 to 2012, we obtained 1250 monoclonal gammapathies including 590 multiple myeloma and 17 patients had IgD MM. With preponderance of men patients with a mean age at diagnosis of: 59±12years. Patients with IgD MM have a short survival (Median survival=9months). The presenting features included: bone pain (75%), lymphadenopathy (16%), hepatomegaly (25%), splenomegaly (8%), associated AL amyloidosis (6%), renal impairment function (82%), infections (47%), hypercalcemia (37%) and anemia (93%). Serum electrophoresis showed a subtle M-spike (Mean=13.22±10g/L) in all patients associated to a hypogammaglobulinemia. There was an over-representation of Lambda light chain (65%); high serum β2-microglobulin in 91% and Bence Jones proteinuria was identified in 71%. The median rate of sFLCs κ was 19.05mg/L and 296.75mg/L for sFLCs λ. sFLCR was abnormal in 93% of patients and it showed concordance between baseline sFLCR and the survival (P=0.034). The contribution of FLC assay is crucial for the prognosis of patients with IgD MM.

  5. Clinical characteristics and follow-up analysis of adult-onset Still's disease complicated by hemophagocytic lymphohistiocytosis.

    PubMed

    Zhang, Yun; Yang, Yingyun; Bai, Yujia; Yang, Dan; Xiong, Yangyang; Zeng, Xuejun

    2016-05-01

    We evaluated clinical characteristics and prognosis for adult-onset Still's disease (AOSD) complicated by hemophagocytic lymphohistiocytosis (HLH). We retrospectively identified cases of AOSD with (n = 10) and without (n = 305) HLH complications. We reviewed their medical records, completed follow-up through outpatient clinic and telephone interviews, and analyzed their clinical symptoms, signs, laboratory test results, treatments, and prognosis. More AOSD patients with HLH developed hepatomegaly, bleeding, serositis, and neurologic symptoms than those without HLH, and they more commonly presented with leukopenia, thrombocytopenia, severe anemia, severe liver function abnormalities, decreased fibrinogen, elevated immunoglobulin, and bone marrow hemophagocytosis. The ten patients with AOSD complicated by HLH were treated with high-dose steroids or pulse steroid therapy, and eight of them also received cytotoxic drugs, while biological agents showed poor response. Follow-up results indicated that AOSD patients overall had good prognosis, while those with HLH showed worse prognosis, including higher relapse and readmission rates and increased mortality. In patients with AOSD, unexplained decreased blood cells, severe liver dysfunction, and/or hemophagocytosis in the bone marrow should be considered as signs of HLH complication. Patients with AOSD complicated by HLH have worse prognosis and higher relapse rates compared to AOSD patients without HLH complications. Thus, these patients should undergo frequent and careful follow-up.

  6. Schistosoma mansoni-Related Hepatosplenic Morbidity in Adult Population on Kome Island, Sengerema District, Tanzania.

    PubMed

    Kaatano, Godfrey M; Min, Duk-Young; Siza, Julius E; Yong, Tai-Soon; Chai, Jong-Yil; Ko, Yunsuk; Chang, Su-Young; Changalucha, John M; Eom, Keeseon S; Rim, Han-Jong

    2015-10-01

    Schistosomiasis is one of the important neglected tropical diseases (NTDs) in Tanzania, particularly in Lake Victoria zone. This baseline survey was a part of the main study of integrated control of schistosomiasis and soil-transmitted helminths (STHs) aimed at describing morbidity patterns due to intestinal schistosomiasis among adults living on Kome Island, Sengerema District, Tanzania. Total 388 adults from Kome Islands (about 50 people from each village) aged between 12 and 85 years, were examined by abdominal ultrasound according to the Niamey protocol. Liver image patterns (LIPs) A and B were considered normal, and C-F as distinct periportal fibrosis (PPF). The overall prevalence of PPF was 42.2%; much higher in males than in females (47.0% in male vs 34.4% in females, P=0.007). Abnormal increase of segmental branch wall thickness (SBWT) and dilated portal vein diameter (PVD) were also more common in males than in females. Hepatosplenomegaly was frequently encountered; 68.1% had left liver lobe hepatomegaly and 55.2% had splenomegaly. Schistosoma mansoni-related morbidity is quite high among adults in this community justifying the implementation of integrated control strategies through mass drug administration, improved water supply (pumped wells), and health education that had already started in the study area.

  7. The first Korean case of mucopolysaccharidosis IIIC (Sanfilippo syndrome type C) confirmed by biochemical and molecular investigation.

    PubMed

    Huh, Hee Jae; Seo, Ja Young; Cho, Sung Yoon; Ki, Chang-Seok; Lee, Soo-Youn; Kim, Jong-Won; Park, Hyung-Doo; Jin, Dong-Kyu

    2013-01-01

    Mucopolysaccharidosis (MPS) III has 4 enzymatically distinct forms (A, B, C, and D), and MPS IIIC, also known as Sanfilippo C syndrome, is an autosomal recessive lysosomal storage disease caused by a deficiency of heparan acetyl-CoA:alpha-glucosaminide N-acetyltransferase (HGSNAT). Here, we report a case of MPS IIIC that was confirmed by molecular genetic analysis. The patient was a 2-yr-old girl presenting with skeletal deformity, hepatomegaly, and delayed motor development. Urinary excretion of glycosaminoglycan (GAG) was markedly elevated (984.4 mg GAG/g creatinine) compared with the age-specific reference range (<175 mg GAG/g creatinine), and a strong band of heparan sulfate was recognized on performing thin layer chromatography. HGSNAT enzyme activity in leukocytes was 0.7 nmol/17 hr/mg protein, which was significantly lower than the reference range (8.6-32 nmol/17 hr/mg protein). PCR and direct sequencing of the HGSNAT gene showed 2 mutations: c.234+1G>A (IVS2+1G>A) and c.1150C>T (p.Arg384*). To the best of our knowledge, this is the first case of MPS IIIC to be confirmed by clinical, biochemical, and molecular genetic findings in Korea.

  8. Protein malnutrition in South India

    PubMed Central

    Rao, K. Someswara; Swaminathan, M. C.; Swarup, S.; Patwardhan, V. N.

    1959-01-01

    A protein malnutrition survey was carried out in ten areas of four States of South India among children under 5 years of age in families with a monthly income of less than Rs 100, estimated to constitute 85% of the population. The agricultural situation and socio-economic conditions are described. The diets investigated consisted largely of cereals, with small quantities of pulses and green vegetables; milk, meat and eggs were little eaten. The survey covered investigation of infant care, feeding and weaning practices, clinical examinations, anthropometric measurements, determinations of haemoglobin and serum protein, and analysis of hospital records. Although infants were usually breast-fed for a long time, the quantity of breast milk was found to be low after 6 months, at which time supplementary foods were introduced, but these were usually inadequate. Extreme growth retardation was seen after weaning. Diarrhoea was complained of in some 20% of children. Such deficiency signs as dyschromotrichia, hepatomegaly, moon face, angular stomatitis and xerophthalmia were frequently seen. Frank cases of kwashiorkor and marasmus were observed in 1% and 1.7% respectively of children at home. These findings and others clearly show protein malnutrition to be a problem of very considerable magnitude in the poorer communities of South India. A comparison is made with the results of surveys conducted in Africa and in Central America. ImagesFIG. 6FIG. 7FIG. 2 PMID:14436226

  9. A high risk critical mitral valve stenosis with emergency management at Apollo Hospitals Dhaka.

    PubMed

    Zahangir, N M; Hoque, K Z; Khan, M H; Haque, M A; Haider, M Z

    2013-10-01

    Heart valve surgery in high-risk patients with severe jaundice, congestive hepatomegaly and renal impairment is associated with considerable morbidity and mortality. Without operation the consequences are invariably grave. A 35 years old gentleman with congestive cardiac failure was initially treated in coronary care unit (CCU). Mitral valve area was 0.5cm², pulmonary arterial systolic pressure (PASP) was 110mmHg, serum bilirubin was 20mg/dl, SGPT & SGOT were 1024iu/l and 1027iu/l respectively. Serum creatinine was 3.35mmol/l. Serum bilirubin gradually diminished to 3.1mg/dl after 12 days treatment in Coronary Care Unit but next day it increased to 3.6mg/dl. Mitral valve was replaced on an emergency basis. Echocardiogram on the 5th post operative day showed well functioning prosthetic mitral valve in situ. Serum bilirubin decreased to 2.2mg/dl, SGPT, SGOT and serum creatinine to 43iu/l, 40iu/l and 1.34mmol/l respectively. After 8 weeks of postoperative follow up his serum bilirubin decreased to 0.8mg/dl.

  10. Drug Reaction With Eosinophilia and Systemic Symptoms Induced by Valproic Acid: A Case Report

    PubMed Central

    Darban, Mahboubeh; Bagheri, Bahador

    2016-01-01

    Introduction Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a rare but life-threatening reaction to drugs such as carbamazepine and allopurinol. The condition is characterized by skin rashes, fever, hematological disturbances, lymphadenopathy, and organ failure, most probably hepatic dysfunction. To date, only a few cases of valproate-induced DRESS syndrome have been reported. Case Presentation We report on the case of a 60-year-old man who had been treated with valproic acid some time before being referred to Kowsar Hospital, Semnan, Iran in December 2015. He was given valproic acid 1000 mg PO, and after 20 days, he had developed widespread rashes, fever, esophagitis, cervical lymphadenopathy, and tender hepatomegaly. Laboratory results at Kowsar showed a drop in hemoglobin, in addition to lymphocytosis, thrombocytopenia, and elevated serum transaminases. DRESS was diagnosed, and corticosteroid therapy was initiated. Administration of the culprit drug to the patient was also stopped. Intravenous immunoglobulin (IVIG) improved the general condition of the patient. Conclusions Only a small number of case reports have described valproic acid-induced DRESS syndrome; therefore, the condition is difficult to prevent. Rechallenge with valproic acid should be avoided in patients with a history of reaction to the drug. PMID:28144463

  11. A case of peripheral T-cell lymphoma, not otherwise specified in a HCV and HTLV-II-positive patient, diagnosed by abdominal fluid cytology

    PubMed Central

    Parekh, Trisha M.; Qian, You-Wen; Elghetany, M. Tarek; Schnadig, Vicki; Nawgiri, Ranjina

    2016-01-01

    Background Peripheral T-cell lymphoma, not otherwise specified (PTCL, NOS) is a rare neoplasm that typically presents as generalized lymphadenopathy. PTCL, NOS presenting as malignant ascites is rare. Methods A 61-year-old African-American man with past medical history of HCV, cryoglobulinemia, and cryptococcal pneumonia was admitted for dyspnea on exertion over a period of 1 month and new onset of abdominal distension. Results Ascites, splenomegaly, hepatomegaly and extensive lymphadenopathy were found by imaging. Paracentesis obtained 1.3 liter of abdominal fluid, the cytologic evaluation showed a monomorphic population of intermediate-sized lymphoid cells with irregular to convoluted nuclear contours. Fluid sent for flow cytometry showed an abnormal T-lymphocyte population expressing CD4, weak surface CD3 and absence of CD7. PCR studies of ascitic fluid detected a clonal T-lymphocyte population with T-cell receptor gamma gene rearrangement. Serologic testing for human T lymphotropic virus (HTLV) was positive for HTLV-II. Subsequent bone marrow biopsy revealed lymphomatous involvement. CD30 and ALK-1 immunostaining were negative. This case was classified as PTCL, NOS. Conclusions PTCL, NOS can have unusual clinical presentation such as ascites and pleural effusion, and may also occur as a complication of immunodeficiency state. Further studies are needed to determine if HCV or HTLV-II viral infection is associated with PTCL. PMID:27034820

  12. Gastrointestinal system manifestations in juvenile systemic lupus erythematosus.

    PubMed

    Sönmez, Hafize Emine; Karhan, Asuman Nur; Batu, Ezgi Deniz; Bilginer, Yelda; Gümüş, Ersin; Demir, Hülya; Yüce, Aysel; Özen, Seza

    2017-02-16

    Systemic lupus erythematosus (SLE) is an autoimmune disease which may involve gastrointestinal system (GIS). The aim of this study was to present GIS manifestations of pediatric SLE patients. The medical files of 69 children with SLE followed between January 2011 and January 2016 were reviewed. All fulfilled the Systemic Lupus International Collaborating Clinics criteria. All patients (≤18 years of age) with GIS manifestations were included. GIS manifestations were observed in 19 (27.5%) out of 69 SLE patients and present at the time of SLE diagnosis in 13 (68.4%). The GIS manifestations due to SLE were autoimmune hepatitis (AIH) (n = 8) and lupus enteritis (n = 1). Manifestations associated with SLE were hepatomegaly and hypertransaminasemia due to macrophage activation syndrome (MAS) (n = 3) and hepatic steatosis (n = 1). GIS manifestations as a result of the adverse events of drugs were as follows: toxic hepatitis (n = 3; associated with methotrexate and nonsteroidal anti-inflammatory drugs in one, methotrexate in another, and azathioprine in another patient), azathioprine-induced cholestatic hepatitis (n = 1), and gastritis associated with corticosteroid (n = 1). In one patient, acute appendicitis occurred as a coincidence. In this study, one of every five pediatric SLE patients had GIS-related manifestations. GIS involvement may occur as an initial manifestation of the disease.

  13. Impact of fetal counseling on outcome of antenatal congenital surgical anomalies.

    PubMed

    Sharma, Shilpa; Bhanot, Ranjana; Deka, Dipika; Bajpai, Minu; Gupta, Devendra K

    2017-02-01

    To analyze the impact of counseling on antenatal congenital surgical anomalies (ACSA). Cases presenting with ACSA for fetal counseling and those presenting in post-natal period following diagnosis of ACSA (PACSA) for surgical opinion were analyzed for spectrum, presentation and outcome. 117 cases including ACSA(68);PACSA(49) were analyzed. Gestational age at diagnosis of ACSA;PACSA was 17-37;17-39 weeks (median 24;32 weeks). Diagnoses in ACSA;PACSA included urological (26;31), neurological (10;5), congenital diaphragmatic hernia (CDH)(5;1), gastrointestinal (5;5), lung and chest anomalies (5;1), intraabdominal cysts (4;1), abdominal wall defects (4;0), tumors (3;3), limb anomaly (1;1), esophageal atresia (1;1), conjoint twins (1;0), hepatomegaly (1;0), and major cardiac anomalies (2;0). Two antenatal interventions were done for ACSA; vesicoamniotic shunt and amnioinfusion for oligohydramnios. 17;24 ACSA;PACSA required early surgical intervention in post-natal period. Nine ACSA underwent medical termination of pregnancy and 4 had intrauterine demise. Nine ACSA babies died including two CDH, one gastroschisis, one duodenal atresia, one conjoint twins, one megacystitis with motility disorder and three posterior urethral valves. All PACSA babies survived. Fetal counseling for CSA portrays true outcome of ACSA with 32.3% (22/68) mortality versus 0% for PACSA due to selection bias. However, fetal counseling ensures optimal perinatal care.

  14. HLA-matched sibling bone marrow transplantation for β-thalassemia major

    PubMed Central

    Sabloff, Mitchell; Chandy, Mammen; Wang, Zhiwei; Logan, Brent R.; Ghavamzadeh, Ardeshir; Li, Chi-Kong; Irfan, Syed Mohammad; Bredeson, Christopher N.; Cowan, Morton J.; Gale, Robert Peter; Hale, Gregory A.; Horan, John; Hongeng, Suradej; Eapen, Mary

    2011-01-01

    We describe outcomes after human leukocyte antigen-matched sibling bone marrow transplantation (BMT) for 179 patients with β-thalassemia major. The median age at transplantation was 7 years and the median follow-up was 6 years. The distribution of Pesaro risk class I, II, and III categories was 2%, 42%, and 36%, respectively. The day 30 cumulative incidence of neutrophil recovery and day 100 platelet recovery were 90% and 86%, respectively. Seventeen patients had graft failure, which was fatal in 11. Six of 9 patients with graft failure are alive after a second transplantation. The day 100 probability of acute graft-versus-host disease and 5-year probability of chronic graft-versus-host disease was 38% and 13%, respectively. The 5-year probabilities of overall- and disease-free survival were 91% and 88%, respectively, for patients with Pesaro risk class II, and 64% and 62%, respectively, for Pesaro risk class III. In multivariate analysis, mortality risks were higher in patients 7 years of age and older and those with hepatomegaly before BMT. The leading causes of death were interstitial pneumonitis (n = 7), hemorrhage (n = 8), and veno-occlusive disease (n = 6). Proceeding to BMT in children younger than 7 years before development of end-organ damage, particularly in the liver, should improve results after BMT for β-thalassemia major. PMID:21119108

  15. Fatal hemoprotozoal infections in multiple avian species in a zoological park.

    PubMed

    Ferrell, Shannon T; Snowden, Karen; Marlar, Annajane B; Garner, Michael; Lung, Nancy P

    2007-06-01

    Over a 3-yr span, two juvenile lesser flamingos (Phoeniconaias minor), two green jays (Cyanocorax yncas glaucescens), and two Montezuma oropendolas (Psarocolius montezuma) died peracutely with no premonitory signs at a zoological park in the southern United States. At necropsy, the birds were in excellent body condition. Except for one green jay, the coelomic cavities were filled with a dark serosanguineous fluid. Splenomegaly and hepatomegaly were present. The livers were tan to purple with numerous, randomly distributed red-to-black foci, ranging in size from 1 to 4 mm. The predominant histopathologic finding, except in one green jay, was large protozoal cysts in the hepatic parenchyma. Histologically, the protozoal cysts were restricted to the liver, and none were identified in the skeletal muscle, spleen, or other tissues. Frozen tissue samples harvested at necropsy had a nested polymerase chain reaction assay performed to amplify the mitochondrial cytochrome B gene of the protozoa. The amplified gene sequences were compared with reference cytochrome B gene sequences for avian Plasmodium spp., Haemoproteus spp., and Leucocytozoon spp. The protozoal parasite within the hepatic parenchyma from the Montezuma oropendolas and the lesser flamingos was identified as Haemoproteus spp. Both green jays had Plasmodium spp. isolated from the submitted tissue samples. The peracute nature of the infections precluded any successful medical intervention, making prevention by exclusion the principal means to control hemoprotozoal transmission. There are no reports in the literature documenting identified fatal hemoprotozoal infections in oropendolas, green jays, or lesser flamingos.

  16. Rescue administration of a helper-dependent adenovirus vector with long-term efficacy in dogs with glycogen storage disease type Ia.

    PubMed

    Crane, B; Luo, X; Demaster, A; Williams, K D; Kozink, D M; Zhang, P; Brown, T T; Pinto, C R; Oka, K; Sun, F; Jackson, M W; Chan, L; Koeberl, D D

    2012-04-01

    Glycogen storage disease type Ia (GSD-Ia) stems from glucose-6-phosphatase (G6Pase) deficiency and causes hypoglycemia, hepatomegaly, hypercholesterolemia and lactic acidemia. Three dogs with GSD-Ia were initially treated with a helper-dependent adenovirus encoding a human G6Pase transgene (HDAd-cG6Pase serotype 5) on postnatal day 3. Unlike untreated dogs with GSD-Ia, all three dogs initially maintained normal blood glucose levels. After 6-22 months, vector-treated dogs developed hypoglycemia, anorexia and lethargy, suggesting that the HDAd-cG6Pase serotype 5 vector had lost efficacy. Liver biopsies collected at this time revealed significantly elevated hepatic G6Pase activity and reduced glycogen content, when compared with affected dogs treated only by frequent feeding. Subsequently, the HDAd-cG6Pase serotype 2 vector was administered to two dogs, and hypoglycemia was reversed; however, renal dysfunction and recurrent hypoglycemia complicated their management. Administration of a serotype 2 HDAd vector prolonged survival in one GSD-Ia dog to 12 months of age and 36 months of age in the other, but the persistence of long-term complications limited HDAd vectors in the canine model for GSD-Ia.

  17. Low level of trans-10, cis-12 conjugated linoleic acid decreases adiposity and increases browning independent of inflammatory signaling in overweight Sv129 mice

    PubMed Central

    Shen, Wan; Baldwin, Jessie; Collins, Brian; Hixson, Lindsay; Lee, Kuan-Ting; Herberg, Timothy; Starnes, Joseph; Cooney, Paula; Chuang, Chia-Chi; Hopkins, Robin; Reid, Tanya; Gupta, Sat; McIntosh, Michael

    2015-01-01

    The objective of this study was to determine the extent to which a low level of trans-10, cis-12 (10,12) conjugated linoleic acid (CLA) decreases adiposity and increases browning in overweight mice, its dependence on inflammatory signaling, and potential synergistic effects of daily exercise. Young, Sv129 male mice were fed a high fat diet for 5 wk to make them fat and glucose intolerant, and then switch them to a low fat diet with or without 0.1% 10,12 CLA, sodium salicylate, or exercise for another 7 wk. 10,12 CLA decreased white adipose tissue (WAT) and brown adipose tissue mass, and increased the mRNA and protein levels, and activities of enzymes associated with thermogenesis or fatty acid oxidation in WAT. Mice fed 10,12 CLA had lower body temperatures compared to controls during cold exposure, which coincided with decreased adiposity. Although sodium salicylate decreased 10,12 CLA-mediated increases in markers of inflammation in WAT, it did not affect other outcomes. Exercise had no further effect on the outcomes measured. Collectively, these data indicate that 10,12 CLA-mediated reduction of adiposity is independent of inflammatory signaling, and possibly due to up-regulation of fatty acid oxidation and heat production in order to regulate body temperature. Although this low level of 10,12 CLA reduced adiposity in overweight mice, hepatomegaly and inflammation are major health concerns. PMID:25801353

  18. T-cell-rich B-cell lymphoma: a clinicopathologic study of 21 cases and comparison with 43 cases of diffuse large B-cell lymphoma.

    PubMed

    Aki, Hilal; Tuzuner, Nukhet; Ongoren, Seniz; Baslar, Zafer; Soysal, Teoman; Ferhanoglu, Burhan; Sahinler, Ismet; Aydin, Yildiz; Ulku, Birsen; Aktuglu, Gulten

    2004-03-01

    Clinicopathologic features of 21 patients with T-cell-rich B-cell lymphoma (TCRBCL) were reviewed and compared to 43 patients with diffuse large B-cell lymphoma (DLBCL) to determine if there were distinguishing clinical characteristics and differences in response or survival to CHOP therapy. For the diagnosis of TCRBCL, the current WHO criteria was used. In all of our cases, the majority of cells are non-neoplastic T cells and <10% large neoplastic B cells are present. The initial pathologic diagnosis was nodular lymphocyte predominant Hodgkin's lymphoma (NLPHL) in two cases. Patients with TCRBCL were significantly younger (median: 46 years) and had a significantly higher incidence of B symptoms (62%), hepatomegaly (33%) and marrow infiltration (33%) at presentation when compared to DLBCL (P<0.03). The CR rate after treatment was 48% for TCRBCL patients versus 79% for the DLBCL (P<0.003). Although the CR rates in between the two groups are significant, the difference in 3 years survival rates in each CR groups was insignificant (80% versus 77%). The overall survival time in the two groups was 17 months. Event-free survival time in TCRBCL was 12 months, compared with 17 months in the DLBCL (P>0.05). The frequency of patients with TCRBCL achieving CR was 52.6% whereas that of patients with DLBCL was 79% (P<0.003). The TCRBCL 3 years event-free survival 48% and overall survival 64% were 63 and 72% for DLBCL, respectively.

  19. Investigation and management of the hepatic glycogen storage diseases

    PubMed Central

    2015-01-01

    The glycogen storage diseases (GSD) comprise a group of disorders that involve the disruption of metabolism of glycogen. Glycogen is stored in various organs including skeletal muscle, the kidneys and liver. The liver stores glycogen to supply the rest of the body with glucose when required. Therefore, disruption of this process can lead to hypoglycaemia. If glycogen is not broken down effectively, this can lead to hepatomegaly. Glycogen synthase deficiency leads to impaired glycogen synthesis and consequently the liver is small. Glycogen brancher deficiency can lead to abnormal glycogen being stored in the liver leading to a quite different disorder of progressive liver dysfunction. Understanding the physiology of GSD I, III, VI and IX guides dietary treatments and the provision of appropriate amounts and types of carbohydrates. There has been recent re-emergence in the literature of the use of ketones in therapy, either in the form of the salt D,L-3-hydroxybutyrate or medium chain triglyceride (MCT). High protein diets have also been advocated. Alternative waxy maize based starches seem to show promising early data of efficacy. There are many complications of each of these disorders and they need to be prospectively surveyed and managed. Liver and kidney transplantation is still indicated in severe refractory disease. PMID:26835382

  20. Fatal hepatic sarcocystosis in a puppy with eosinophilia and eosinophilic peritoneal effusion.

    PubMed

    Allison, Robin; Williams, Philip; Lansdowne, Jennifer; Lappin, Michael; Jensen, Tracey; Lindsay, David

    2006-09-01

    A 3-month-old male Golden Retriever puppy was evaluated for lethargy and fever of 2-days duration. Results of a CBC and biochemical profile revealed marked eosinophilia (6.3 X 10(3)/microL; reference interval 0.1-1.2 X 10(3)/microL), moderate thrombocytopenia, and increased activities of alanine aminotransferase, aspartate aminotransferase, and creatine kinase. Hepatomegaly and peritoneal effusion were found using abdominal ultrasound. Peritoneal fluid analysis revealed eosinophilic inflammation (23,000 nucleated cells/microL with 88% eosinophils). Despite supportive treatment the puppy's condition deteriorated rapidly; euthanasia was requested, and a necropsy performed. Microscopically, there was marked necrosuppurative and eosinophilic hepatitis with vasculitis. Numerous hepatocytes contained protozoal organisms suspected to be Toxoplasma gondii or Neospora caninum. However, serum was negative for both T gondii and N caninum antibodies; polymerase chain reaction assay on hepatic tissue was negative for both organisms; and immunohistochemical evaluation of hepatic tissue using serum raised against T gondii, N caninum, and Sarcocystis neurona also was negative. Schizont morphology suggested that merozoites replicated by endopolygeny, forming rosettes around a central residual body. Transmission electron microscopy revealed that merozoites lacked rhoptries. These findings were consistent with a diagnosis of Sarcocystis canis, an apicomplexan parasite with an unknown life cycle.

  1. Multidrug resistant citrobacter: an unusual cause of liver abscess.

    PubMed

    Kumar, Prabhat; Ghosh, Soumik; Rath, Deepak; Gadpayle, A K

    2013-04-22

    Liver abscesses are infectious, space occupying lesions in the liver, the two most common abscesses being pyogenic and amoebic. A pyogenic liver abscess (PLA) is a rare condition with a reported incidence of 20 per 100 000 hospital admissions in the western population. The right lobe of the liver is the most common site in both types of liver abscess. Clinical presentation is elusive with complaints of fever, right upper quadrant pain in the abdomen and hepatomegaly with or without jaundice. The aetiology of PLA has changed in the past few decades and may be of biliary, portal, arterial or traumatic origin, but many cases are still cryptogenic. The most common organisms causing PLA are Gram-negative aerobes, especially Escherichia coli and Klebsiella pneumoniae. Studies have shown a high degree of antimicrobial susceptibility of isolated organism resulting in an overall lower mortality in PLA. Here, we present a case of PLA caused by multidrug-resistant Citrobacter freundii, which is an unusual organism to be isolated.

  2. Haematological profile of 21 patients with hairy cell leukaemia in a tertiary care centre of north India.

    PubMed

    Gupta, Arvind Kumar; Sachdeva, Man Updesh Singh; Ahluwalia, Jasmina; Das, Reena; Naseem, Shano; Sharma, Prashant; Kumar, Narender; Malhotra, Pankaj; Varma, Neelam; Varma, Subhash

    2015-10-01

    Hairy cell leukaemia (HCL) is a B cell neoplasm which constitutes around 2 per cent of all the lymphoid leukaemias. It has a characteristic morphology and immunophenotypic profile. It is important to distinguish HCL from other B cell lymphoproliferative disorders due to availability of different chemotherapeutic agents. This study presents clinical, haematological and immunophenotypic profile of patients with HCL seen over a period of four years in a tertiary care hospital in north India. Twenty one cases of hairy cell leukaemia were analyzed for their clinical details, haemogram, bone marrow examination and immunophenotypic findings. Age of the patients ranged from 28-76 yr with male predominance. Weakness and fever were commonest presentations. Splenomegaly, hepatomegaly, lymphadenopathy were seen in decreasing order of frequency. Anaemia was noted in all 21 patients, leukopenia in 15 and thrombocytopenia in 19 cases. Fourteen patients were pancytopenic. Bone marrow examination showed typical hairy cells in all cases. Immunophenotyping showed expression of CD19, CD20, CD103, CD25 and CD11c in all cases, while positivity was seen for CD79b in 93.7 per cent, kappa light chain restriction in 60 per cent and lambda in 40 per cent cases. Notably, 20 per cent showed CD10 and 12 per cent showed CD23 expression. This study reveals some unusual findings in otherwise classical disease entity, like absence of palpable spleen, presence of lymphadenopathy, normal or elevated leukocyte counts, expression of CD10, which at times could be diagnostically challenging.

  3. [Fascioliasis in children. A study of 10 cases].

    PubMed

    Alvarez-Chacón, R; García-Rosales, J J; de la Cruz-Otero, M C; Wong-Chío, M; Cabrera-Bravo, M; Gómez-Gómez, J V; Gamez-Aranda, V

    1992-06-01

    These are the observation found in ten children with fascioliasis diagnosis at the Servicio de Parasitología, of the Instituto Nacional de Pediatría, from 1979 to 1990; six children in scholar age; one prescholar and three teenagers; only one was female. Four of them lined at the State of Mexico; three at Morelos; one at Puebla, another one at Oaxaca and the other one at Mexico City. In nine of the watercress eaten was confirmed. The most important clinic manifestations were: fever, weight lose, paleness, hepatomegaly, hiporexia, right hypochondrium pain and diarrhoea. Diagnosis was established by: counterimmunoelectrophoresis, indirect haemagglutination and there were found eggs by simple sedimentation, Ritchie's method and microscopic study of duodenal sample. Leukocytes counts were between 11,000 and 34,000/mm3. Eosinophils were to 77% with 24,430 totals. Only in three of them haemoglobin was found under 9 g/dL. All of them had hypergammaglobulinemia. In nine patients the alkaline phosphatase was found in higher levels; only in three of them, transaminase, oxalacetic and glutamic piruvic were found in higher levels. The most effective drug in the treatment was dehidroemetine.

  4. Autoimmune hepatitis type 2 following anti-papillomavirus vaccination in a 11-year-old girl.

    PubMed

    Della Corte, Claudia; Carlucci, Antonio; Francalanci, Paola; Alisi, Anna; Nobili, Valerio

    2011-06-24

    In the last years numerous reports describing a possible association between administration of vaccines and development of autoimmune phenomena and overt autoimmune disease were published. Possible mechanisms of induction of autoimmune phenomena by vaccines and their excipients are probably similar to those implicated in induction by infectious agents. Here we report the case of an 11-year-old girl who developed autoimmune hepatitis type II after four weeks from vaccination against human papillomavirus. The possible relationships between the use of adjuvated vaccine against papillomavirus and autoimmune hepatitis are discussed. Although we do not provide evidence for a causal link, we suggest that the occurrence of the autoimmune hepatitis may be related to the stimulation of immune system by adjuvated-vaccine, that could have triggered the disease in a genetically predisposed individual. Therefore a monitoring of liver function test following administration of vaccine against papillomavirus may be useful in adolescent girl with signs of hepatopathy, as jaundice, dark urine or hepatomegaly, to early identify and to promptly treat autoimmune liver disorders. Copyright © 2011 Elsevier Ltd. All rights reserved.

  5. Platynosomum fastosum-induced chronic intrahepatic cholangitis and Spirometra spp. infections in feral cats from Grand Cayman.

    PubMed

    Headley, S A; Gillen, M A; Sanches, A W D; Satti, M Z

    2012-06-01

    The occurrence of platynosomiasis and intestinal sparganosis is described in feral cats from Grand Cayman, Cayman Islands. Spirometra spp. was observed within the intestine of 18.18% (10/55) of cats; 1.18% (1/55) of cats demonstrated gross and histological manifestation of parasitism by Platynosomum fastosum, but 14.5% (8/55) of cats had the characteristic pathological manifestations of P. fastosum-induced intrahepatic cholangitis without the concomitant presence of the intraductal trematode. Combined parasitism (Spirometra spp. and P. fastosum) was observed in 9.09% (5/55) of feral cats. Significant pathological findings were only associated with the hepatic fluke, P. fastosum, and were grossly characterized by moderate hepatomegaly with enlarged and dilated bile ducts. Examples of cestodes with morphological features characteristic of Spirometra spp. were observed within the small intestine without any associated pathological lesion. The histopathological evaluation of liver fragments revealed chronic intrahepatic cholangitis with and without the associated intraductal trematode, and was characterized by marked periductal fibrosis, adenomatous proliferation of bile duct epithelium, dilation of intrahepatic bile ducts and portal accumulations of inflammatory cells. The occurrence of the cestode in feral cats coupled with factors that are unique to Grand Cayman makes this island the ideal location for sporadic cases of human sparganosis.

  6. [Drainage of amoebic liver abscess by single incision laparoscopic surgery. Report of a case].

    PubMed

    Telich-Tarriba, José Eduardo; Parrao-Alcántara, Iris Jocelyn; Montes-Hernández, Jesús Manuel; Vega-Pérez, Jesús

    2015-01-01

    Single incision laparoscopic surgery has increased recently due to successful results, achieved in several procedures. The aim of the present work is to present the first case in which single incision laparoscopy is used for the drainage of an amoebic liver abscess. A 44-year-old man presented with intense right upper quadrant pain, generalised jaundice, tachycardia, fever, hepatomegaly and a positive Murphy's sign. Laboratory results revealed an increased plasma bilirubin, elevated alkaline phosphatase and transaminases, leucocytosis, negative viral panel for hepatitis, and positive antibodies against Entamoeba histolytica. On an abdominal computed tomography a 15 × 12.1 cm hypodense lesion was observed in the patient's liver, identified as an amoebic liver abscess. Analgesics and antibiotics were started and subsequently the patient was submitted to laparoscopic drainage of the abscess using a single port approach. Drainage and irrigation of the abscess was performed. Four days later the patient was discharged without complications. Management of amoebic liver abscess is focused on the elimination of the infectious agent and obliteration of the abscess cavity in order to prevent its complications, especially rupture. Laparoscopic surgery has proved to be a safe and effective way to manage this entity. Copyright © 2015 Academia Mexicana de Cirugía A.C. Published by Masson Doyma México S.A. All rights reserved.

  7. [Non-alcoholic fatty liver: 10 years' experience at the Insituto Nacional de la Nutrición Salvador Zubirán].

    PubMed

    de la Mora, G; Olivera, M; de la Cerda, R; Arista, J; Kershenobich, D; Uribe, M

    1994-01-01

    To describe the characteristics of non-alcoholic steatohepatitis (NASH) at the Instituto Nacional de la Nutricion Salvador Zubiran. We reviewed all liver biopsy reports from January 1982 to December 1991. From patient records we obtained the following data: clinical, biochemical, imaging studies and we reviewed the histological material. We correlated clinical, biochemical and histological data. From 2963 biopsies reviewed we obtained 16 cases of NASH. We found a 7:1 female/male ratio. Median age was 30 years and six patients were obese. Eleven patients had concomitant disease (diabetes in seven) and nine were using drugs. All had been studied for biochemical abnormalities and were asymptomatic. Ten patients had hepatomegaly and six splenomegaly. Ultrasound suggested the diagnosis in 50% of the cases. All had steatosis, inflammatory infiltrate, necrosis, fibrosis and Mallory bodies at different stages. One case had cirrhosis on initial biopsy and two developed cirrhosis on follow-up (one and eight years later). We did not find any correlation between clinical, biochemical or imaging characteristics and histological findings. When we compared these findings between obese and non obese patients and primary and secondary NASH we did not find any differences between groups. NASH is infrequent in our institution. The underlying pathogenesis seems to be multifactorial. There is no biochemical-histological correlation. Cirrhosis can develop in some cases.

  8. Prenatal detection of Fraser syndrome without cryptophthalmos: case report and review of the literature.

    PubMed

    Berg, C; Geipel, A; Germer, U; Pertersen-Hansen, A; Koch-Dörfler, M; Gembruch, U

    2001-07-01

    Fraser syndrome (cryptophthalmos-syndactyly syndrome) is an autosomal recessive multiple malformation syndrome whose major manifestations are cryptophthalmos, syndactyly, laryngeal atresia and urogenital defects. Enlarged hyperechogenic lungs contrasted by oligohydramnios, non-visualization of the kidneys and microphthalmia were sonographic markers leading to the prenatal detection of this rare autosomal recessive disorder in earlier reports. We report a case of Fraser syndrome diagnosed at 16 weeks' gestational age in a woman whose previous pregnancy was terminated because of multiple fetal malformations. Abnormal sonographic findings included bilateral agenesis of the kidneys, dilated trachea and main bronchi (suggestive of high airway obstruction), hyperechogenic lungs, syndactyly of the fingers, hepatomegaly, oligohydramnios and hydrops placentae. Face and cerebral structures appeared normal. These findings together with those of the previously affected child led to the diagnosis of Fraser syndrome. The parents elected to terminate the pregnancy. Autopsy results were confirmatory. In conclusion, prenatal diagnosis of Fraser syndrome is possible in the hands of an expert, but due to the great variety of possible malformations the diagnosis will remain doubtful in most cases in which no previous child is affected.

  9. Apigenin Ameliorates Dyslipidemia, Hepatic Steatosis and Insulin Resistance by Modulating Metabolic and Transcriptional Profiles in the Liver of High-Fat Diet-Induced Obese Mice

    PubMed Central

    Jung, Un Ju; Cho, Yun-Young; Choi, Myung-Sook

    2016-01-01

    Several in vitro and in vivo studies have reported the anti-inflammatory, anti-diabetic and anti-obesity effects of the flavonoid apigenin. However, the long-term supplementary effects of low-dose apigenin on obesity are unclear. Therefore, we investigated the protective effects of apigenin against obesity and related metabolic disturbances by exploring the metabolic and transcriptional responses in high-fat diet (HFD)-induced obese mice. C57BL/6J mice were fed an HFD or apigenin (0.005%, w/w)-supplemented HFD for 16 weeks. In HFD-fed mice, apigenin lowered plasma levels of free fatty acid, total cholesterol, apolipoprotein B and hepatic dysfunction markers and ameliorated hepatic steatosis and hepatomegaly, without altering food intake and adiposity. These effects were partly attributed to upregulated expression of genes regulating fatty acid oxidation, tricarboxylic acid cycle, oxidative phosphorylation, electron transport chain and cholesterol homeostasis, downregulated expression of lipolytic and lipogenic genes and decreased activities of enzymes responsible for triglyceride and cholesterol ester synthesis in the liver. Moreover, apigenin lowered plasma levels of pro-inflammatory mediators and fasting blood glucose. The anti-hyperglycemic effect of apigenin appeared to be related to decreased insulin resistance, hyperinsulinemia and hepatic gluconeogenic enzymes activities. Thus, apigenin can ameliorate HFD-induced comorbidities via metabolic and transcriptional modulations in the liver. PMID:27213439

  10. [Veno-occlusive disease of the liver].

    PubMed

    Rybicka, Malwina; Krysiak, Robert; Okopień, Bogusław

    2009-01-01

    Veno-occlusive disease (VOD) is seen most often in the group of bone marrow transplant recipients. The essence of this disease is the obstruction of the hepatic sinusoidal and centrolobular venous outflow, because of the injury to the endothelium of the liver vessels. It results in congestion of the liver and hepatomegaly. The typical clinical symptoms of VOD are: jaundice, portal hypertension with peripheral oedemas and the weight gain. Depending on the extent of the injury of the hepatic vessels, VOD is divided into three grades: mild, moderate and severe. The clinical markers that inform about the severity of the disease are: the rate of the serum bilirubin growth and the rate of the weight gain growth within the first 2 weeks since the beginning of the disease. Severe VOD is the third of the most often cause of death among people who underwent bone marrow transplantation. The mortality rate is diverse and depends on severity of the disease. The effectiveness of the VOD therapy is limited, so it is worth putting greater pressure on the prophylaxis of VOD or on finding more effective modes of treatment.

  11. Hepatic veno-occlusive disease after hematopoietic stem cell transplantation: review and update on the use of defibrotide.

    PubMed

    Ho, Vincent T; Linden, Erica; Revta, Carolyn; Richardson, Paul G

    2007-06-01

    Veno-occlusive disease (VOD) of the liver remains one of the most feared complications associated with high-dose chemotherapy and hematopoietic stem cell transplantation (SCT). As a clinical syndrome characterized by fluid retention, hyperbilirubinemia, and painful hepatomegaly, VOD incidence varies widely, but it is universally recognized that severe cases of VOD have an extremely poor prognosis, with mortality at day 100 after SCT in excess of 80%. Systemic anticoagulant and thrombolytic therapies have been tested extensively in this disease, but are largely ineffective and are associated with significant bleeding complications. In recent years, defibrotide (DF; a polydisperse oligonucleotide derived from porcine intestinal mucosa with antithrombotic and protective properties on the microvasculature but minimal hemorrhagic risk) has emerged as a promising therapy for VOD. In large, multicenter, international phase I/II trials targeting patients with severe VOD, DF has been associated with complete response rates between 36 and 60%, survival past transplant day 100 in the range of 32 to 50%, and few significant attributable side effects. On the basis of these encouraging results, a pivotal, prospective, multinational, phase III trial of DF is underway in patients with severe VOD, and should provide validation of this agent as a therapy for established disease with a high risk of mortality. This article reviews our current understanding of hepatic VOD after SCT and provides a summary of the data to date on the use of DF as both therapy and prophylaxis for this disease.

  12. Typhoid fever in hospitalized children in Kelantan, Malaysia.

    PubMed

    Choo, K E; Razif, A; Ariffin, W A; Sepiah, M; Gururaj, A

    1988-12-01

    A retrospective study of 137 patients with blood culture-positive typhoid fever admitted to the paediatric unit of the Hospital Universiti Sains Malaysia was carried out to study epidemiological, clinical, laboratory and treatment aspects of typhoid fever in Kelantanese children in hospital. The male:female ratio was 1:1.1. School-children were the most affected. Cases were seen throughout the year. The five most frequently presenting features were fever, hepatomegaly, diarrhoea, vomiting and cough. Rose spots were seen in only two patients. Complications included gastritis, bronchitis, ileus, psychosis, encephalopathy, gastro-intestinal bleeding and myocarditis. Relative bradycardia was not seen. Blood and stool cultures were positive in the 1st, 2nd and 3rd weeks of illness. There was no significant difference between percentages of elevated O and H titres, whether done during or after the 1st week of illness. A four-fold rise in (O) titres occurred in 50% of cases tested. We would miss 50% of typhoid fever cases if a titre (O) equal to more than 1/160 were relied upon for diagnosis. Altogether, 46% of patients had leucopenia. Chloramphenicol was the most commonly used antibiotic. There were two deaths.

  13. Comparison of antimalarial activity of Artemisia turanica extract with current drugs in vivo.

    PubMed

    Taherkhani, Mahboubeh; Rustaiyan, Abdolhossein; Nahrevanian, Hossein; Naeimi, Sabah; Taherkhani, Tofigh

    2013-03-01

    The purpose of this study was to compare antimalarial activity of Artemisia turanica Krasch as Iranian flora with current antimalarial drugs against Plasmodium berghei in vivo in mice. Air-dried aerial parts of Iranian flora A. turanica were collected from Khorasan, northeastern Iran, extracted with Et2O/MeOH/Petrol and defatted. Toxicity of herbal extracts was assessed on male NMRI mice, and their antimalarial efficacy was compared with antimalarial drugs [artemether, chloroquine and sulfadoxinepyrimethamine (Fansidar)] on infected P. berghei animals. All the groups were investigated for parasitaemia, body weight, hepatomegaly, splenomegaly and anemia. The significance of differences was determined by Analysis of Variances (ANOVA) and Student's t-test using Graph Pad Prism software. The inhibitory effects of A. turanica extract on early decline of P. berghei parasitaemia highlights its antimalarial activity, however, this effect no longer can be observed in the late infection. This may be due to the metabolic process of A. turanica crude extract by mice and reduction of its concentration in the body. Crude extract of A. turanica represented its antisymptomatic effects by stabilization of body, liver and spleen weights. This study confirmed antimalarial effects of A. turanica extracts against murine malaria in vivo during early infection, however, there are more benefits on pathophysiological symptoms by this medication.

  14. “Caught by the Eye of Sound” – Epigastric Swelling due to Xiphisternal Tuberculosis

    PubMed Central

    Grover, Shabnam Bhandari; Arora, Sumit; Kumar, Amit; Grover, Hemal; Katyan, Amit; Nair, Deepthi Mohan

    2017-01-01

    Summary Background Common causes of an epigastric mass include hepatomegaly, pancreatic pseudocyst and epigastric hernia, less common causes being carcinoma of the stomach or pancreas, whereas diseases of the sternum presenting as an epigastric swelling is extremely uncommon. We report a case of tubercular infection of the sternum located in the xiphoid process resulting in its presentation as an epigastric swelling. Case Report A 30-year-old immunocompetent woman with complaints of an epigastric swelling and undocumented pyrexia for four months was referred for sonographic evaluation with a clinical suspicion of an incompletely treated liver abscess. The patient was examined with ultrasound, sternal radiographs, CT and MRI. Ultrasound revealed a heterogeneous epigastric collection with linear echogenic components suggestive of bone fragments. These appearances suggested chronic infective osteomyelitis of the xiphoid process of the sternum. Lateral chest radiograph demonstrated lytic destruction of the xiphisternum. Tubercular etiology was considered and further evaluation with Multidetector Computed tomography (MDCT) and Magnetic Resonance Imaging (MRI) demonstrated erosive osteomyelitis of the xiphoid process with enhancing inflammation and collection in the adjoining soft tissue. Ultrasound-guided aspiration, PCR and Amplified Mycobacterium tuberculosis DNA test confirmed tubercular infection. Conclusions We report a new case of osteo-articular tuberculosis localized to the xiphisternum, a rare clinical entity with an extremely unusual clinical presentation as an epigastric mass. The role of ultrasound in primary diagnosis and as an interventional diagnostic modality for guided aspiration is highlighted. PMID:28217237

  15. Altered Glucose Homeostasis and Hepatic Function in Obese Mice Deficient for Both Kinin Receptor Genes

    PubMed Central

    Barros, Carlos C.; Haro, Anderson; Russo, Fernanda J. V. P.; Schadock, Ines; Almeida, Sandro S.; Ribeiro, Rosane A.; Vanzela, Emerielle C.; Lanzoni, Valeria P.; Barros, Flavio C.; Moraes, Milton R.; Mori, Marcelo A.; Bacurau, Reury F. P.; Wurtele, Martin; Boschero, Antônio C.; Carneiro, Everardo M.; Bader, Michael; Pesquero, Joao B.; Araujo, Ronaldo C.

    2012-01-01

    The Kallikrein-Kinin System (KKS) has been implicated in several aspects of metabolism, including the regulation of glucose homeostasis and adiposity. Kinins and des-Arg-kinins are the major effectors of this system and promote their effects by binding to two different receptors, the kinin B2 and B1 receptors, respectively. To understand the influence of the KKS on the pathophysiology of obesity and type 2 diabetes (T2DM), we generated an animal model deficient for both kinin receptor genes and leptin (obB1B2KO). Six-month-old obB1B2KO mice showed increased blood glucose levels. Isolated islets of the transgenic animals were more responsive to glucose stimulation releasing greater amounts of insulin, mainly in 3-month-old mice, which was corroborated by elevated serum C-peptide concentrations. Furthermore, they presented hepatomegaly, pronounced steatosis, and increased levels of circulating transaminases. This mouse also demonstrated exacerbated gluconeogenesis during the pyruvate challenge test. The hepatic abnormalities were accompanied by changes in the gene expression of factors linked to glucose and lipid metabolisms in the liver. Thus, we conclude that kinin receptors are important for modulation of insulin secretion and for the preservation of normal glucose levels and hepatic functions in obese mice, suggesting a protective role of the KKS regarding complications associated with obesity and T2DM. PMID:22829877

  16. Clinico-pathological studies of Plasmodium falciparum and Plasmodium vivax - malaria in India and Saudi Arabia.

    PubMed

    Khan, Wajihullah; Zakai, Haytham A; Umm-E-Asma

    2014-06-01

    Malaria is one of the most devastating diseases of tropical countries with clinical manifestations such as anaemia, splenomegaly, thrombocytopenia, hepatomegaly and acute renal failures. In this study, cases of thrombocytopenia and haemoglobinemia were more prominent in subjects infected with Plasmodium falciparum (Welch, 1897) than those with Plasmodium vivax (Grassi et Feletti, 1890). However, anaemia, jaundice, convulsions and acute renal failure were significantly high (3-4 times) in subjects infected with P. falciparum than those infected with P. vivax. The incidence of splenomegaly and neurological sequelae were 2 and 6 times higher in P. falciparum infections compared to the infections of P. vivax. Both in P. vivax and P. falciparum malaria, the cases of splenomegaly, jaundice and neurological sequelae were almost double in children (<10 years) compared to older patients. The liver enzymes were generally in normal range in cases of low and mild infections. However, the AST, ALT, ALP activities and serum bilirubin, creatinine, and the urea content were increased in P. falciparum and P. vivax malaria patients having high parasitaemia, confirming liver dysfunction and renal failures in few cases of severe malaria both in India and Saudi Arabia.

  17. Hidden Disease Susceptibility and Sexual Dimorphism in the Heterozygous Knockout of Cyp51 from Cholesterol Synthesis

    PubMed Central

    Lewinska, Monika; Juvan, Peter; Perse, Martina; Jeruc, Jera; Kos, Spela; Lorbek, Gregor; Urlep, Ziga; Keber, Rok; Horvat, Simon; Rozman, Damjana

    2014-01-01

    We examined the genotype-phenotype interactions of Cyp51+/− mice carrying one functional allele of lanosterol 14α-demethylase from cholesterol biosynthesis. No distinct developmental or morphological abnormalities were observed by routine visual inspection of Cyp51+/− and Cyp51+/+ mice and fertility was similar. We further collected a large data-set from female and male Cyp51+/− mice and controls fed for 16 weeks with three diets and applied linear regression modeling. We used 3 predictor variables (genotype, sex, diet), and 39 response variables corresponding to the organ characteristics (7), plasma parameters (7), and hepatic gene expression (25). We observed significant differences between Cyp51+/− and wild-type mice in organ characteristics and blood lipid profile. Hepatomegaly was observed in Cyp51+/− males, together with elevated total and low-density lipoprotein cholesterol. Cyp51+/− females fed high-fat, high-cholesterol diet were leaner and had elevated plasma corticosterone compared to controls. We observed elevated hepatocyte apoptosis, mitosis and lipid infiltration in heterozygous knockouts of both sexes. The Cyp51+/− females had a modified lipid storage homeostasis protecting them from weight-gain when fed high-fat high-cholesterol diet. Malfunction of one Cyp51 allele therefore initiates disease pathways towards cholesterol-linked liver pathologies and sex-dependent response to dietary challenge. PMID:25393872

  18. Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease.

    PubMed

    Valayannopoulos, Vassili; Verhoeven, Nanda M; Mention, Karine; Salomons, Gajja S; Sommelet, Danièle; Gonzales, Marie; Touati, Guy; de Lonlay, Pascale; Jakobs, Cornelis; Saudubray, Jean-Marie

    2006-11-01

    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.

  19. Novel Synergistic Protective Efficacy of Atovaquone and Diclazuril on Fetal-Maternal Toxoplasmosis.

    PubMed

    Oz, Helieh S

    2014-08-01

    Over 1 billion people globally are estimated to be infected with Toxoplasma gondii with severe or unknown consequences and no safe and effective therapies are available against congenital or persistent chronic infection. We propose that atovaquone and diclazuril synergistically protect against fetal-maternal toxoplasmosis. Programmed pregnant mice were treated with atovaquone and diclazuril monotherapy, or combined (atovaquone + diclazuril) therapy and infected with tachyzoites (0, 300, 600) and the course of infection was studied. Infected dams with low dose (300) developed moderate toxoplasmosis complications and treatments were similarly effective with minor differences between monotherapies. In contrast, major differences were observed amongst varied treatments during high-dose (600) infection and severe related- toxoplasmosis complications as follows. Dams developed hydrothorax, ascities and excess weight gain. Combined therapy (P < 0.01) and to a lesser extent diclazuril monotherapy (P < 0.05) protected dams from excess weight, hydrothorax, and ascities. Infected dams exhibited splenomegaly, hepatomegaly and severe hepatitis. Combined therapy synergistically normalized pathology (P < 0.001) and to a lesser degree monotherapy (diclazuril P < 0.01, and atovaquone P < 0.05) protected dams from hepatitis and splemomegaly. Additionally, behavioral response to pain stimuli and fetal weight and fetal numbers were significantly preserved in treated dams. This is the first report describing combined atovaquone and diclazuril therapy (a) to be safe in pregnancy, (b) to exert novel synergistic effects, and (c) to protect dams and their nested fetuses against adverse effects of severe toxoplasmosis.

  20. Giant hepatic metastasis in a patient with coin-like small cell lung carcinoma incidentally diagnosed at autopsy

    PubMed Central

    Fodor, Decebal; Gurzu, Simona; Contac, Anca Otilia; Jung, Ioan

    2017-01-01

    Abstract Rationale: Encephalopathy is a rare complication of hepatic metastases. In this paper we present a case of a patient with lung cancer and metastatic-related giant hepatomegaly. Patient concerns: A 78-year-old previously healthy male was admitted in the Emergency room in hepatic coma. Diagnoses: The abdominal CT scan examination revealed a huge liver filled with solid nodules. Interventions: No interventions were performed. Outcomes: The patient died at few hours after hospitalization. The autopsy showed a 6.5 kilograms liver with several whitish metastatic nodules and an occult prostate adenocarcinoma. The hilum of both lungs was free of tumor and a 10 mm white nodule was identified surrounding a small bronchus. No peripheral nodules were macroscopically identified. Under microscope, cluster of small cells were observed encasing a small bronchus with multiple minute coin-shaped subpleural foci. A massive intrapulmonary angiolymphatic invasion and metastases from small cell carcinoma in liver, lymph nodes and iliac crest bone marrow were also diagnosed. Lessons: This case highlights the difficulty of diagnosis of aggressive lung carcinomas and the necessity of checking for metachronous tumors. The encephalopathy might be the result of metastatic damage of the liver parenchyma combined with the paraneoplastic effect of the tumor cells. Few than 25 cases of SCLCs with diffuse liver metastases and fulminant liver failure were reported to December 2016. This is the first reported case with a synchronous prostate cancer and a “coin-like” aspect of the SCLC. PMID:28296775

  1. Increased liver AGEs induce hepatic injury mediated through an OST48 pathway.

    PubMed

    Zhuang, Aowen; Yap, Felicia Yt; Bruce, Clinton; Leung, Chris; Plan, Manuel R; Sullivan, Mitchell A; Herath, Chandana; McCarthy, Domenica; Sourris, Karly C; Kantharidis, Phillip; Coughlan, Melinda T; Febbraio, Mark A; Hodson, Mark P; Watt, Matthew J; Angus, Peter; Schulz, Benjamin L; Forbes, Josephine M

    2017-09-25

    The protein oligosaccharyltransferase-48 (OST48) is integral to protein N-glycosylation in the endoplasmic reticulum (ER) but is also postulated to act as a membrane localised clearance receptor for advanced glycation end-products (AGE). Hepatic ER stress and AGE accumulation are each implicated in liver injury. Hence the objective of this study was to increase the expression of OST48 and examine the effects on hepatic function and structure. Groups of 8 week old male mice (n = 10-12/group) over-expressing the gene for OST48, dolichyl-diphosphooligosaccharide-protein glycosyltransferase (DDOST+/-), were followed for 24 weeks, while randomised to diets either low or high in AGE content. By week 24 of the study, either increasing OST48 expression or consumption of high AGE diet impaired liver function and modestly increased hepatic fibrosis, but their combination significantly exacerbated liver injury in the absence of steatosis. DDOST+/- mice had increased both portal delivery and accumulation of hepatic AGEs leading to central adiposity, insulin secretory defects, shifted fuel usage to fatty and ketoacids, as well as hepatic glycogen accumulation causing hepatomegaly along with hepatic ER and oxidative stress. This study revealed a novel role of the OST48 and AGE axis in hepatic injury through ER stress, changes in fuel utilisation and glucose intolerance.

  2. Anti-diabetic and hypolipidemic effects of Sargassum yezoense in db/db mice.

    PubMed

    Kim, Su-Nam; Lee, Woojung; Bae, Gyu-Un; Kim, Yong Kee

    2012-08-10

    Peroxisome proliferator-activated receptors (PPARs) have been considered to be desirable targets for metabolic syndrome, even though their specific agonists have several side effects including body weight gain, edema and tissue failure. Previously, we have reported in vitro effects of Sargassum yezoense (SY) and its ingredients, sargaquinoic acid (SQA) and sargahydroquinoic acid (SHQA), on PPARα/γ dual transcriptional activation. In this study, we describe in vivo pharmacological property of SY on metabolic disorders. SY treatment significantly improved glucose and lipid impairment in db/db mice model. More importantly, there are no significant side effects such as body weight gain and hepatomegaly in SY-treated animals, indicating little side effects of SY in liver and lipid metabolism. In addition, SY led to a decrease in the expression of G6Pase for gluconeogenesis in liver responsible for lowering blood glucose level and an increase in the expression of UCP3 in adipose tissue for the reduction of total and LDL-cholesterol level. Altogether, our data suggest that SY would be a potential therapeutic agent against type 2 diabetes and related metabolic disorders by ameliorating the glucose and lipid metabolism.

  3. Efficacy and safety of oral betaine glucuronate in non-alcoholic steatohepatitis. A double-blind, randomized, parallel-group, placebo-controlled prospective clinical study.

    PubMed

    Miglio, F; Rovati, L C; Santoro, A; Setnikar, I

    2000-08-01

    In a prospective, randomized, double-blind therapeutic trial, 191 patients with non-alcoholic steatohepatitis were treated for 8 weeks daily b.i.d. orally either with betaine glucuronate combined with diethanolamine glucuronate and nicotinamide ascorbate (Ietepar) (96 patients) or with undistinguishable placebo capsules (95 patients). The verum treatment effectively reduced by 25% hepatic steatosis (p < 0.01) and by 6% hepatomegaly (p < 0.05), while placebo did not significantly reduce the disorders. Verum was also more effective than placebo on discomfort in abdominal upper right quadrant. The global efficacy of treatment was rated by the doctor "very good" or "good" in 48% of verum treated patients and only in 17% after placcbo (P of difference = 9 x 10(-6)). 52% of patients self-rated efficacy as "very good" or "good" after verum and only 34% after placebo (P of difference = 0.017). The verum treatment provoked a significant reduction of the increased liver transaminases (ALT, AST and gamma-GT) while placebo was ineffective. Adverse events were recorded in 10% of verum-treated patients and in 7% under placebo (no significant difference). In both groups the adverse events were mild and transient, did not require treatment discontinuation and were undistinguishable from common symptoms of liver disorders. In conclusion, the 8-week treatment with betaine glucuronate combined with diethanolamine glucuronate and nicotinamide ascorbate was found effective in non-alcoholic steatohepatitis, a disorder for which the hitherto pharmacological interventions were poorly and inconsistently effective.

  4. Impaired de novo choline synthesis explains why phosphatidylethanolamine N-methyltransferase-deficient mice are protected from diet-induced obesity.

    PubMed

    Jacobs, René L; Zhao, Yang; Koonen, Debby P Y; Sletten, Torunn; Su, Brian; Lingrell, Susanne; Cao, Guoqing; Peake, David A; Kuo, Ming-Shang; Proctor, Spencer D; Kennedy, Brian P; Dyck, Jason R B; Vance, Dennis E

    2010-07-16

    Phosphatidylcholine (PC) is synthesized from choline via the CDP-choline pathway. Liver cells can also synthesize PC via the sequential methylation of phosphatidylethanolamine, catalyzed by phosphatidylethanolamine N-methyltransferase (PEMT). The current study investigates whether or not hepatic PC biosynthesis is linked to diet-induced obesity. Pemt(+/+) mice fed a high fat diet for 10 weeks increased in body mass by 60% and displayed insulin resistance, whereas Pemt(-/-) mice did not. Compared with Pemt(+/+) mice, Pemt(-/-) mice had increased energy expenditure and maintained normal peripheral insulin sensitivity; however, they developed hepatomegaly and steatosis. In contrast, mice with impaired biosynthesis of PC via the CDP-choline pathway in liver became obese when fed a high fat diet. We, therefore, hypothesized that insufficient choline, rather than decreased hepatic phosphatidylcholine, was responsible for the lack of weight gain in Pemt(-/-) mice despite the presence of 1.3 g of choline/kg high fat diet. Supplementation with an additional 2.7 g of choline (but not betaine)/kg of diet normalized energy metabolism, weight gain, and insulin resistance in high fat diet-fed Pemt(-/-) mice. Furthermore, Pemt(+/+) mice that were fed a choline-deficient diet had increased oxygen consumption, had improved glucose tolerance, and gained less weight. Thus, de novo synthesis of choline via PEMT has a previously unappreciated role in regulating whole body energy metabolism.

  5. Imaging of Primary Liver Carcinosarcoma Scintigraphically; A Case Report

    PubMed Central

    Abdulrezzak, Ümmühan; Kula, Mustafa; Erdoğan, Zeynep; Tutuş, Ahmet

    2014-01-01

    Primary liver carcinosarcoma is a very rare disease. There have been only a few cases described to date, none of which has been imaged by bone scintigraphy. A 69-year-old man who developed right back pain and weight loss was admitted to our hospital. Tenderness of the right upper abdomen, hepatomegaly, and a giant mass were the main physical examination signs. Abdominal ultrasonography showed a large lobulated heterogeneous echogenic solid mass with multiple cystic areas of varying size and a highly echogenic region that had posterior acoustic shadowing within the mass in the right lobe of the liver. Labeled erythrocyte imaging and 99mTc-nanocolloid liver-spleen scan were performed to exclude hemangioma, showing a large intrahepatic photon deficient area. 99mTc-methylene diphosphonate (MDP) bone scintigraphy revealed heterogeneous, irregular and dense activity accumulation thought to be osteoblastic activity in the liver mass. Postsurgical pathological diagnosis revealed “carcinosarcoma”. Conflict of interest:None declared. PMID:24653934

  6. Phyllanthus Niruri Standardized Extract Alleviates the Progression of Non-Alcoholic Fatty Liver Disease and Decreases Atherosclerotic Risk in Sprague–Dawley Rats

    PubMed Central

    Al Zarzour, Raghdaa Hamdan; Ahmad, Mariam; Asmawi, Mohd. Zaini; Kaur, Gurjeet; Al-Mansoub, Majed Ahmed; Saghir, Sultan Ayesh Mohammed; Usman, Nasiba Salisu; Al-Dulaimi, Dhamraa W.; Yam, Mun Fei

    2017-01-01

    Non-alcoholic fatty liver disease (NAFLD) is one of the major global health issues, strongly correlated with insulin resistance, obesity and oxidative stress. The current study aimed to evaluate anti-NAFLD effects of three different extracts of Phyllanthus niruri (P. niruri). NAFLD was induced in male Sprague–Dawley rats using a special high-fat diet (HFD). A 50% methanolic extract (50% ME) exhibited the highest inhibitory effect against NAFLD progression. It significantly reduced hepatomegaly (16%) and visceral fat weight (22%), decreased NAFLD score, prevented fibrosis, and reduced serum total cholesterol (TC) (48%), low-density lipoprotein (LDL) (65%), free fatty acids (FFAs) (25%), alanine aminotransferase (ALT) (45%), alkaline phosphatase (ALP) (38%), insulin concentration (67%), homeostatic model assessment of insulin resistance (HOMA-IR) (73%), serum atherogenic ratios TC/high-density lipoprotein (HDL) (29%), LDL/HDL (66%) and (TC–HDL)/HDL (64%), hepatic content of cholesterol (43%), triglyceride (29%) and malondialdehyde (MDA) (40%) compared to a non-treated HFD group. In vitro, 50% ME of P. niruri inhibited α-glucosidase, pancreatic lipase enzymes and cholesterol micellization. It also had higher total phenolic and total flavonoid contents compared to other extracts. Ellagic acid and phyllanthin were identified as major compounds. These results suggest that P. niruri could be further developed as a novel natural hepatoprotective agent against NAFLD and atherosclerosis. PMID:28718838

  7. Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b).

    PubMed

    Kuijpers, Taco W; Maianski, Nikolai A; Tool, Anton T J; Smit, G Peter A; Rake, Jan Peter; Roos, Dirk; Visser, Gepke

    2003-06-15

    Glycogen storage disease type 1b (GSD1b) is a rare autosomal recessive disorder characterized by hypoglycemia, hepatomegaly, and growth retardation, and associated-for unknown reasons- with neutropenia and neutrophil dysfunction. In 5 GSD1b patients in whom nicotin-amide adenine dinucleotide phosphate-oxidase activity and chemotaxis were defective, we found that the majority of circulating granulocytes bound Annexin-V. The neutrophils showed signs of apoptosis with increased caspase activity, condensed nuclei, and perinuclear clustering of mitochondria to which the proapoptotic Bcl-2 member Bax had translocated already. Granulocyte colony-stimulating factor (G-CSF) addition to in vitro cultures did not rescue the GSD1b neutrophils from apoptosis as occurs with G-CSF-treated control neutrophils. Moreover, the 2 GSD1b patients on G-CSF treatment did not show significantly lower levels of apoptotic neutrophils in the bloodstream. Current understanding of neutrophil apoptosis and the accompanying functional demise suggests that GSD1b granulocytes are dysfunctional because they are apoptotic.

  8. [Sociodemographic and clinical characteristics of patients infected with Leptospira spp. treated at four hospitals in Medellín, Colombia, 2008-2013].

    PubMed

    Echeverri-Toro, Lina María; Penagos, Sara; Castañeda, Laura; Villa, Pablo; Atehortúa, Santiago; Ramírez, Faiver; Restrepo, Carlos; Ospina, Sigifredo; Agudelo, Yuli; Hidrón, Alicia; Agudelo, Paola; Valderrama, Eliana; Agudelo, Carlos Andrés

    2017-01-24

    Leptospirosis remains a significant health problem in tropical regions including Latin America, where its presentation is 100 times higher than that observed in other regions of the world. Mortality reaches 10% in severe cases. Its diagnosis is challenging because clinical manifestations during the initial phase are non-specific and because of limited availability of diagnostic tests. To describe the demographic and clinical characteristics and the outcomes in hospitalized patients with leptospirosis. This retrospective study included patients treated at four institutions in Medellín between January, 2009, and December, 2013, with a compatible clinical picture and a positive IgM for Leptospira spp. We included 119 patients, 80% male, and 58% of rural origin. The mean duration of symptoms was 9.6 days (SD=9.6). Eighty nine per cent of patients had fever; 62%, jaundice; 74%, myalgia; 46%, diarrhea; 41%, hepatomegaly; 13%, splenomegaly, and 13%, conjunctival injection. Fifty four per cent of patients had impaired renal function; 32%, pulmonary compromise, and 13%, liver failure. Sixteen per cent required admission to the ICU; 12%, mechanical ventilation, and 11%, vasopressor therapy.Weil's syndrome occurred in 38.6% and 5% died. The average hospital stay was 11 days (SD=9.6). In this population, the clinical manifestations and complications of leptospirosis were similar to those reported in the literature. We observed a relatively low overall mortality in relation to global statistics.

  9. Blastic Phase of CML with Microfilaria: A Rare Case Report

    PubMed Central

    Pahwa, Suniti; Singh, Ashu; Daga, M. K.; Singh, Tejinder

    2015-01-01

    Filariasis is a major public health concern in tropical and subtropical countries including India. There have been very few case reports of incidental filariasis in the bone marrow aspirate smears in patients with hematological malignancies. We present a case of blastic phase of chronic myeloid leukemia (CML) with associated filariasis with monocytosis. Such an association, to the best of our knowledge, is hitherto unreported. Moreover, eosinophilia was not a feature in our case. A 37-year-old male, diagnosed case of CML, presented with low grade fever, weight loss and abdominal distension for one month. Physical examination revealed massive splenomegaly and hepatomegaly. However, there was no lymphadenopathy. His hemoglobin was 10.5 g/dl, total leukocyte count was 52.31x 109 / L with platelet count of 30x 109/L .Differential leukocyte count on peripheral smear showed 21% blasts, 30% polymorphs, 16% lymphocytes, 1% myelocyte, 1%metamyelocyte, 30%monocytoid cells and 1% eosinophils. Bone marrow aspirate smears were diluted with peripheral blood and showed blasts and monocytoid cells constituting 25% and 15% of marrow nucleated cells respectively. In addition, occasional microfilaria of Wuchereria bancrofti were also seen both in the peripheral blood and aspirate smears. Based on the above findings, a diagnosis of blastic phase of CML with monocytosis with microfilaria of W.bancrofti. Hence this was an unusual case of CML blastic phase which was associated with filariasis. Moreover, inspite of having filariasis and CML, patient lacked eosinophilia and instead showed monocytosis, which is hitherto unreported. PMID:25737999

  10. Mortality of captive whooping cranes caused by eastern equine encephalitis virus.

    PubMed

    Dein, F J; Carpenter, J W; Clark, G G; Montali, R J; Crabbs, C L; Tsai, T F; Docherty, D E

    1986-11-01

    Of 39 captive whooping cranes (Grus americana), 7 died during a 7-week period (Sept 17 through Nov 4, 1984) at the Patuxent Wildlife Research Center, Laurel, Md. Before their deaths, 4 cranes did not develop clinical signs, whereas the other 3 cranes were lethargic and ataxic, with high aspartate transaminase, gamma-glutamyl transferase, and lactic acid dehydrogenase activities, and high uric acid concentrations. Necropsies indicated that the birds had ascites, intestinal mucosal discoloration, fat depletion, hepatomegaly, splenomegaly, and visceral gout. Microscopically, extensive necrosis and inflammation were seen in many visceral organs; the CNS was not affected. Eastern equine encephalitis (EEE) virus was isolated from specimens of the livers, kidneys, lungs, brains, and intestines of 4 of the 7 birds that died, and EEE virus-neutralizing antibody was detected in 14 (44%) of the 32 surviving birds. Other infectious or toxic agents were not found. Morbidity or mortality was not detected in 240 sandhill cranes (Grus canadensis) interspersed among the whooping cranes; however, 13 of the 32 sandhill cranes evaluated had EEE virus-neutralizing antibody. Of the 41 wild birds evaluated in the area, 3 (4%) had EEE virus-neutralizing antibody. Immature Culiseta melanura (the most probable mosquito vector) were found in scattered foci 5 km from the research center.

  11. Comparative Study of Transcriptome Profiles of Mouse Livers and Skins Infected by Fork-Tailed or Non-Fork-Tailed Schistosoma japonicum.

    PubMed

    Yang, Yan; He, Jun-Jun; Hu, Shuang; Chang, Hua; Xiang, Xun; Yang, Jian-Fa; Zou, Feng-Cai

    2017-01-01

    Schistosoma japonicum (S. japonicum) is a worldwide spread pathogen which penetrates host skin and then induces several diseases in infected host, such as fibrosis, formation of granulomas, hepatocirrhosis, and hepatomegaly. In present study, for the first time, transcriptomic profiles of mouse livers and skins infected by fork-tailed S. japonicum cercaria or non-fork-tailed S. japonicum cercaria were analyzed by using RNA-seq. The present findings demonstrated that transcriptomic landscapes of livers and skins infected by fork-tailed S. japonicum cercaria or non-fork-tailed S. japonicum cercaria were different. S. japonicum has great influence on hepatic metabolic processes. Fork-tailed S. japonicum cercaria upregulated hepatic metabolic processes, while non-fork-tailed S. japonicum cercaria downregulated hepatic metabolic processes. For the metabolism process or the metabolism enzyme expressional change, the pharmacokinetics of host could be changed during S. japonicum infection, regardless the biotypes of S. japonicum cercariae. The changes of infected skins focused on upregulation of immune response. During the S. japonicum skin infection period, fork-tailed S. japonicum cercaria infection induced stronger immune response comparing with that immune response triggered by non-fork-tailed S. japonicum cercaria. The transcription factor enrichment analysis showed that Irf7, Stat1 and Stat2 could play important roles in gene regulation during fork-tailed S. japonicum cercaria infection.

  12. Novel treatment options for lysosomal acid lipase deficiency: critical appraisal of sebelipase alfa

    PubMed Central

    Su, Kim; Donaldson, Emma; Sharma, Reena

    2016-01-01

    Lysosomal acid lipase deficiency (LAL-D) is a rare disorder of cholesterol metabolism with an autosomal recessive mode of inheritance. The absence or deficiency of the LAL enzyme gives rise to pathological accumulation of cholesterol esters in various tissues. A severe LAL-D phenotype manifesting in infancy is associated with adrenal calcification and liver and gastrointestinal involvement with characteristic early mortality. LAL-D presenting in childhood and adulthood is associated with hepatomegaly, liver fibrosis, cirrhosis, and premature atherosclerosis. There are currently no curative pharmacological treatments for this life-threatening condition. Supportive management with lipid-modifying agents does not ameliorate disease progression. Hematopoietic stem cell transplantation as a curative measure in infantile disease has mixed success and is associated with inherent risks and complications. Sebelipase alfa (Kanuma) is a recombinant human LAL protein and the first enzyme replacement therapy for the treatment of LAL-D. Clinical trials have been undertaken in infants with rapidly progressive LAL-D and in children and adults with later-onset LAL-D. Initial data have shown significant survival benefits in the infant group and improvements in biochemical parameters in the latter. Sebelipase alfa has received marketing authorization in the United States and Europe as long-term therapy for all affected individuals. The availability of enzyme replacement therapy for this rare and progressive disorder warrants greater recognition and awareness by physicians. PMID:27799810

  13. Cx3cr1 deficiency in mice attenuates hepatic granuloma formation during acute schistosomiasis by enhancing the M2-type polarization of macrophages

    PubMed Central

    Ran, Lin; Yu, Qilin; Zhang, Shu; Xiong, Fei; Cheng, Jia; Yang, Ping; Xu, Jun-Fa; Nie, Hao; Zhong, Qin; Yang, Xueli; Yang, Fei; Gong, Quan; Kuczma, Michal; Kraj, Piotr; Gu, Weikuan; Ren, Bo-Xu; Wang, Cong-Yi

    2015-01-01

    ABSTRACT Acute schistosomiasis is characterized by pro-inflammatory responses against tissue- or organ-trapped parasite eggs along with granuloma formation. Here, we describe studies in Cx3cr1−/− mice and demonstrate the role of Cx3cr1 in the pathoetiology of granuloma formation during acute schistosomiasis. Mice deficient in Cx3cr1 were protected from granuloma formation and hepatic injury induced by Schistosoma japonicum eggs, as manifested by reduced body weight loss and attenuated hepatomegaly along with preserved liver function. Notably, S. japonicum infection induced high levels of hepatic Cx3cr1 expression, which was predominantly expressed by infiltrating macrophages. Loss of Cx3cr1 rendered macrophages preferentially towards M2 polarization, which then led to a characteristic switch of the host immune defense from a conventional Th1 to a typical Th2 response during acute schistosomiasis. This immune switch caused by Cx3cr1 deficiency was probably associated with enhanced STAT6/PPAR-γ signaling and increased expression of indoleamine 2,3-dioxygenase (IDO), an enzyme that promotes M2 polarization of macrophages. Taken together, our data provide evidence suggesting that CX3CR1 could be a viable therapeutic target for treatment of acute schistosomiasis. PMID:26035381

  14. Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family

    PubMed Central

    2013-01-01

    Background Congenital generalized lipodystrophy (CGL) also known as Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a genetically heterogeneous disorder characterized by loss of adipose tissues, Acanthosis nigricans, diabetes mellitus, muscular hypertrophy, hepatomegaly and hypertriglyceridemia. There are four subclinical phenotypes of CGL (CGL1-4) and mutations in four genes AGPAT2, BSCL2, CAV1 and PTRF have been assigned to each type. Methods The study included clinical and molecular investigations of CGL disease in a consanguineous Pakistani family. For mutation screening all the coding exons including splice junctions of AGPAT2, BSCL2, CAV1 and PTRF genes were PCR amplified and sequenced directly using an automated DNA sequencer ABI3730. Results Sequence analysis revealed a single base pair deletion mutation (c.636delC; p.Tyr213ThrfsX20) in exon 5 of BSCL2 gene causing a frame shift and premature termination codon. Conclusion Mutation identified here in BSCL2 gene causing congenital generalized lipodystrophy is the first report in Pakistani population. The patients exhibited characteristic features of generalized lipodystrophy, Acanthosis nigricans, diabetes mellitus and hypertrophic cardiomyopathy. Virtual Slides The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1913913076864247. PMID:23659685

  15. Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family.

    PubMed

    Rahman, Obaid Ur; Khawar, Nadeem; Khan, Muhammad Aman; Ahmed, Jawad; Khattak, Kamran; Al-Aama, Jumana Yousuf; Naeem, Muhammad; Jelani, Musharraf

    2013-05-09

    Congenital generalized lipodystrophy (CGL) also known as Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a genetically heterogeneous disorder characterized by loss of adipose tissues, Acanthosis nigricans, diabetes mellitus, muscular hypertrophy, hepatomegaly and hypertriglyceridemia. There are four subclinical phenotypes of CGL (CGL1-4) and mutations in four genes AGPAT2, BSCL2, CAV1 and PTRF have been assigned to each type. The study included clinical and molecular investigations of CGL disease in a consanguineous Pakistani family. For mutation screening all the coding exons including splice junctions of AGPAT2, BSCL2, CAV1 and PTRF genes were PCR amplified and sequenced directly using an automated DNA sequencer ABI3730. Sequence analysis revealed a single base pair deletion mutation (c.636delC; p.Tyr213ThrfsX20) in exon 5 of BSCL2 gene causing a frame shift and premature termination codon. Mutation identified here in BSCL2 gene causing congenital generalized lipodystrophy is the first report in Pakistani population. The patients exhibited characteristic features of generalized lipodystrophy, Acanthosis nigricans, diabetes mellitus and hypertrophic cardiomyopathy. The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1913913076864247.

  16. Ingestion of milk fermented by genetically modified Lactococcus lactis improves the riboflavin status of deficient rats.

    PubMed

    LeBlanc, J G; Burgess, C; Sesma, F; Savoy de Giori, G; van Sinderen, D

    2005-10-01

    Riboflavin deficiency is common in many parts of the world, particularly in developing countries. The use of riboflavin-producing strains in the production of dairy products such as fermented milks, yogurts, and cheeses is feasible and economically attractive because it would decrease the costs involved during conventional vitamin fortification and satisfy consumer demands for healthier foods. The present study was conducted to assess in a rat bioassay the response of administration of milk fermented by modified Lactococcus lactis on the riboflavin status of deficient rats. Rats were fed a riboflavin-deficient diet during 21 d after which this same diet was supplemented with milk fermented by Lactoccus lactis pNZGBAH, a strain that overproduces riboflavin during fermentation. The novel fermented product, with increased levels of riboflavin, was able to eliminate most physiological manifestations of ariboflavinosis, such as stunted growth, elevated erythrocyte glutathione reductase activation coefficient values and hepatomegaly, that were observed using a riboflavin depletion-repletion model, whereas a product fermented with a nonriboflavin-producing strain did not show similar results. A safety assessment of this modified strain was performed by feeding rodents with the modified strain daily for 4 wk. This strain caused no detectable secondary effects. These results pave the way for analyzing the effect of similar riboflavin-overproducing lactic acid bacteria in human trials. The regular consumption of products with increased levels of riboflavin could help prevent deficiencies of this essential vitamin.

  17. Low level of trans-10, cis-12 conjugated linoleic acid decreases adiposity and increases browning independent of inflammatory signaling in overweight Sv129 mice.

    PubMed

    Shen, Wan; Baldwin, Jessie; Collins, Brian; Hixson, Lindsay; Lee, Kuan-Ting; Herberg, Timothy; Starnes, Joseph; Cooney, Paula; Chuang, Chia-Chi; Hopkins, Robin; Reid, Tanya; Gupta, Sat; McIntosh, Michael

    2015-06-01

    The objective of this study was to determine the extent to which a low level of trans-10, cis-12 (10,12) conjugated linoleic acid (CLA) decreases adiposity and increases browning in overweight mice, its dependence on inflammatory signaling and potential synergistic effects of daily exercise. Young, Sv129 male mice were fed a high-fat diet for 5 weeks to make them fat and glucose intolerant and then switch them to a low-fat diet with or without 0.1% 10,12 CLA, sodium salicylate or exercise for another 7 weeks. 10,12 CLA decreased white adipose tissue (WAT) and brown adipose tissue mass, and increased the messenger RNA and protein levels, and activities of enzymes associated with thermogenesis or fatty acid oxidation in WAT. Mice fed 10,12 CLA had lower body temperatures compared to controls during cold exposure, which coincided with decreased adiposity. Although sodium salicylate decreased 10,12 CLA-mediated increases in markers of inflammation in WAT, it did not affect other outcomes. Exercise had no further effect on the outcomes measured. Collectively, these data indicate that 10,12 CLA-mediated reduction of adiposity is independent of inflammatory signaling, and possibly due to up-regulation of fatty acid oxidation and heat production in order to regulate body temperature. Although this low level of 10,12 CLA reduced adiposity in overweight mice, hepatomegaly and inflammation are major health concerns. Copyright © 2015 Elsevier Inc. All rights reserved.

  18. Intestinal brucellosis associated with celiac artery and superior mesenteric artery stenosis and with ileum mucosa and submucosa thickening

    PubMed Central

    Wang, Miaoqian; Zhu, Qingli; Yang, Qian; Li, Wenbo; Wang, Xinning; Liu, Wei; Zhou, Baotong; Li, Zhenghong; Yang, Hong

    2017-01-01

    Abstract Rationale: Brucellosis is a multisystem infection found worldwide that has a broad range of characteristics, which range from acute fever and hepatomegaly to chronic infections that most commonly affect the central nervous system, cardiovascular system, or skeletal system. Gastrointestinal and splanchnic artery involvements in brucellosis are relatively uncommon. Patient concerns: We report a case of brucellosis in an adolescent presenting as intermittent abdominal pain, diarrhea, and fever, with intestinal tract involvement. And stenosis of the celiac artery and the superior mesenteric artery was found after exposed to risk factors of Brucella infection. Splanchnic vessels stenosis and an endothelial lesion may exacerbate the prevalent symptom of abdominal pain, as a form of colic pain, occurring after eating. Diagnoses: The patient was diagnosed as brucellosis. The narrowing of the SMA and CA was suspected to be vasculitis secondary to the brucellosis. Interventions: The patient was treated with minocycline and rifampicin for 12 weeks totally. Outcomes: The gastrointestinal manifestations of brucellosis recovered rapidly under intensive treatment. However, follow-up imaging revealed that the superior mesenteric artery and celiac artery stenosis was unimproved. Lessons: In brucellosis, gastrointestinal manifestations may be the only observable features of the disease. Splanchnic arterial stenosis is a rare complication of brucellosis. Sonography and computed tomography may be useful for both diagnosis and follow-up. PMID:28079834

  19. Clinical presentation of hemophagocytic lymphohistiocytosis in adults is less typical than in children.

    PubMed

    Zhang, Zuojuan; Wang, Juandong; Ji, Buqiang; Bahr Greenwood, Tatiana von; Zhang, Yuan; Wang, Yongjing; Kong, Dexiao; Li, Ai; Jiang, Yang; Guo, Yanan; Liu, Xiaoli; Wang, Yingxue; Dou, Aixia; Li, Nailin; Henter, Jan-Inge; Sun, Guizhen; Zheng, Chengyun

    2016-04-01

    Hemophagocytic lymphohistiocytosis in adults is largely underdiagnosed. To improve the rate and accuracy of diagnosis in adults, the clinical and laboratory characteristics of hemophagocytic lymphohistiocytosis were analyzed in and compared between adults and children in a Chinese cohort. Data from 50 hemophagocytic lymphohistiocytosis patients, including 34 adults and 16 children who fulfilled the 2004 hemophagocytic lymphohistiocytosis diagnostic criteria, were collected and analyzed. 1. Etiological factors: The proportion of Epstein-Barr virus infection was lower in adults compared with children, whereas fungal infection and natural killer/T cell lymphoma were more frequent in adults (P<0.05). 2. Clinical manifestations and laboratory findings: Over 90% of adults and pediatric patients presented with fever, thrombocytopenia and high serum ferritin levels. However, in adults, the proportions of hepatomegaly, splenomegaly and jaundice were much lower (P<0.01) than in children, and serous cavity effusion was more frequent in adult patients (P<0.05). More children had hemoglobin <90 g/L, total bilirubin >19 mmol/L and lactate dehydrogenase >500 U/L compared with adults (P<0.05). 3. The time interval from the onset of symptoms to clinical diagnosis was significantly shorter in pediatric patients than in adults (P<0.05). Certain clinical features were different between the two groups. The less characteristic clinical presentation of hemophagocytic lymphohistiocytosis in adults may make the disease more difficult to diagnose. Our findings suggest that hemophagocytic lymphohistiocytosis should be considered when an adult patient presents with the above-mentioned symptoms.

  20. [Uveitis caused by Toxocara canis].

    PubMed

    Janjetović, Zeljka; Arar, Zeljka Vuković; Marinić, Miljenko; Pandak, Nenad

    2006-01-01

    The course of disease in a 64-year-old man with toxocariasis and ocular manifestations of the disease, treated at Departments of Ophthalmology and of Infectious Diseases, Dr. Josip Bencević General Hospital in Slavonski Brod, Croatia, is presented. The patient was hospitalized for bilateral uveitis of unknown etiology. In several days, the patient developed high fever with respiratory tract involvement and hepatomegaly. Worsening of the patient's general condition and laboratory findings of leukocytosis and eosinophilia indicated clinical examinations for parasitosis, in consultation with a specialist for infectious diseases. Specific serologic testing pointed to toxocariasis. The patient's general condition and ophthalmologic status improved in response to specific therapy with anthelmintics and corticosteorids. Toxocariasis is an acute infectious disease that primarily affects animals and less frequently humans. Clinically, toxocariasis manifests as a systemic disease, and on the eye as parasitic posterior uveitis. The disease is caused by the nematodes Toxocara canis and Toxocara cati, the species parasitic in the intestine of dogs and cats, respectively. When the parasite eggs reach human intestine, larvae are released and migrate via blood and lymphatic system to the liver, lungs, eyes, and other organs. Considering the mechanism of disease transmission, the potential preventive measures should include treatment and appropriate anthelmintic management of infected animals, and due control of public areas such as public gardens, promenades, playgrounds, along with taking pets for exercise to the sites specially intended for this purpose.

  1. Disseminated intravascular coagulation in acute lymphoblastic leukemia at presentation and in early phase of remission induction therapy.

    PubMed

    Higuchi, T; Mori, H; Niikura, H; Omine, M; Okada, S; Terada, H

    1998-06-01

    A high frequency of disseminated intravascular coagulation (DIC) in adult acute lymphoblastic leukemia (ALL) has been reported; however, its clinical relevance and characteristics have not been fully determined. We studied 67 adults with newly diagnosed ALL between 1982 and 1996 to clarify these questions. DIC was diagnosed in ten of 64 patients (16%) who underwent coagulation study at presentation and in 14 of 40 patients (35%) screened for DIC within 7 days after starting remission induction therapy. Overall, 24 of 67 patients (36%) had DIC during this period. Hemorrhagic symptoms were generally mild, while two patients required red blood cell transfusions. Patients who developed DIC had higher white blood cell counts and more frequently a palpable spleen than those who did not. There was no difference in age, French-American-British subtype, karyotype, immunophenotype, lactate dehydrogenase level, percentage of blasts in bone marrow, or frequency of lymphadenopathy or hepatomegaly between patients who had DIC and those who did not. Fibrinolysis tended to be milder in DIC complicating ALL than in that complicating acute promyelocytic leukemia; however, there was no difference in other coagulation parameters between these two subtypes. An etiological link between CD34 expression in common ALL patients and DIC was suggested.

  2. Very Early Presentation of Extrahepatic Portal Vein Obstruction Causing Portal Hypertension in an Infant: Uncertainties in the Management and Therapeutic Limitations

    PubMed Central

    Khodayar-Pardo, Parisá; Peña Aldea, Andrés; Ramírez González, Ana; Meseguer Carrascosa, Adela; Calabuig Bayo, Cristina

    2016-01-01

    Extrahepatic portal vein obstruction, although rare in children, is a significant cause of portal hypertension (PHT) leading to life-threatening gastrointestinal bleeding in the pediatric age group. PHT may also lead to other complications such as hyperesplenism, cholangyopathy, ascites, and even hepatopulmonary syndrome and portopulmonary hypertension that may require organ transplantation. Herein we report the case of an asymptomatic 11-month-old infant wherein a hepatomegaly and cavernous transformation of the portal vein was detected by liver ultrasound. Neither signs of thrombosis in arteriovenous system, nor affectation of biliary tract were identified in the magnetic resonance imaging study. A significant enlargement of the caudate lobe of the liver was reported. No risk factors were detected. The differential diagnosis performed was extensive. Inherited thrombophilia and storage disorders were especially considered. Liver biopsy was normal. Upper gastrointestinal esophagogastroduodenoscopy detected two small varicose cords on the distal third of the esophagus. Finding a cavernous transformation of the portal vein with evidence of collateral circulation in such an early age is a challenging condition for professionals, since PHT may lead to severe complications during childhood and can compromise growth and development. Evidence-based guidelines for the management of PHT in adults have been published. However, follow-up and treatment of pediatric patients have not yet been standardized. Moreover, management of PHT in infants faces particular difficulties such as technical restrictions that could hinder their treatment. PMID:27504083

  3. A Case of Fulminant Hepatic Failure Secondary to Congestive Heart Failure Without Evidence of Acute Cardiac Decompensation.

    PubMed

    Wagle, Kalyan; Akinseye, Oluwaseun A; Shrestha, Prakash; Chandnani, Madhuri; Munankarmi, Raiko; Ripin, Vivian; Yee, Jimmy

    2017-04-01

    There are so far only a few reported cases of acute fulminant hepatic failure resulting from acute cardiomyopathy. This is a rare occurrence, especially in patients that do not exhibit any signs and symptoms of acute cardiac decompensation. We report a case of fulminant liver failure with nondiagnostic work up for the common causes of liver failure. This patient had concurrent history of congestive heart failure, but did not have acute decompensation. Right upper quadrant sonogram revealed hepatomegaly of 15 cm, trace amount of perihepatic ascites, pericholecystic fluid, and also thickened edematous gallbladder wall with no stones, no common bile duct stones, and no portal vein thrombosis. Echocardiogram revealed dilated left atrium and ventricle, severe mitral regurgitation, severe tricuspid regurgitation, grade 4 diastolic dysfunction, diffuse hypokinesis of left ventricle, and severely and newly reduced systolic function with an ejection fraction of 10 percent (decreased from 25 percent on last ECHO 18 months prior). Liver biopsy demonstrated marked centrilobular hepatocyte necrosis and dropout accompanied by congestion, some areas of bridging necrosis and focal confluent necrosis which was suggestive of severe congestive hepatopathy. With initiation of heart failure medications, liver function improved significantly. Copyright© South Dakota State Medical Association.

  4. Discovery and epidemiology of PCB poisoning in Taiwan: a four-year followup.

    PubMed Central

    Hsu, S T; Ma, C I; Hsu, S K; Wu, S S; Hsu, N H; Yeh, C C; Wu, S B

    1985-01-01

    An outbreak of polychlorinated biphenyl (PCB) poisoning from the consumption of contaminated rice oil, covering four counties in central Taiwan, was investigated. There were 1843 cases by the end of 1980. The highest frequency of incidence occurred during the period from March to July 1979. The severity of clinical manifestations varied. Most patients showed symptoms of mild or moderate severity. The major age group affected was between 11 and 20 years old. Most of the victims were students and factory workers. The amount of PCB intake in each victim was estimated to be 0.7 to 1.84 g and the latent period from the time of intake to the onset of clinical manifestations was approximately 3 to 4 months. The patients' blood PCB concentrations ranged from 3 ppb to 1156 ppb; 44.27% of 613 patients had levels of 51 to 100 ppb and 27.6% PCB blood levels over 100 ppb. In the course of 3.5 years, 2061 persons were determined to be PCB poisoning victims. Now, except for a few severe cases, their skin symptoms are very much improved. Thirty-nine babies showing hyperpigmentation were born from PCB-poisoned mothers. The fatality rate was high: eight of them died. Another 24 deaths were reported among the PCB-poisoned group, almost half of them (12) from hepatoma, liver cirrhosis or liver diseases with hepatomegaly. PMID:3921364

  5. Acute necrotising encephalopathy of childhood: a new syndrome presenting with multifocal, symmetric brain lesions.

    PubMed Central

    Mizuguchi, M; Abe, J; Mikkaichi, K; Noma, S; Yoshida, K; Yamanaka, T; Kamoshita, S

    1995-01-01

    The clinicopathological features of a previously unrecognised type of acute encephalopathy prevalent among Japanese children is described by reviewing the records of 13 consecutive patients treated and 28 previously reported cases. The hallmark of this encephalopathy, proposed to be a novel entity termed acute necrotising encephalopathy of childhood, is multiple, necrotic brain lesions showing a symmetric distribution. The encephalopathy was noted in previously healthy children after respiratory tract infections, with presenting symptoms of coma, convulsions, vomiting, hyperpyrexia, and hepatomegaly. Laboratory examinations disclosed liver dysfunction, uraemia, and hypoproteinaemia. The histological appearance of the liver was variable and non-specific. Cerebrospinal fluid contained an increased amount of protein. Computed tomography and MRI showed the presence of symmetrically distributed brain lesions of the thalamus, cerebral white matter, brainstem, and cerebellum. Necropsy examination confirmed extensive fresh necrosis of these regions with evidence of local breakdown of the blood-brain barrier. Based on the characteristic combination of clinical and pathological findings, acute necrotising encephalopathy of childhood can be distinguished from previously known encephalopathies, including Reye's syndrome. Images PMID:7745402

  6. Clinical and laboratory characteristics of infectious mononucleosis by Epstein-Barr virus in Mexican children

    PubMed Central

    2012-01-01

    Background Infectious mononucleosis (IM) or Mononucleosis syndrome is caused by an acute infection of Epstein-Barr virus. In Latin American countries, there are little information pertaining to the clinical manifestations and complications of this disease. For this reason, the purpose of this work was to describe the clinical and laboratory characteristics of infection by Epstein-Barr virus in Mexican children with infectious mononucleosis. Methods A descriptive study was carried out by reviewing the clinical files of patients less than 18 years old with clinical and serological diagnosis of IM by Epstein-Barr virus from November, 1970 to July, 2011 in a third level pediatric hospital in Mexico City. Results One hundred and sixty three cases of IM were found. The most frequent clinical signs were lymphadenopathy (89.5%), fever (79.7%), general body pain (69.3%), pharyngitis (55.2%), hepatomegaly (47.2%). The laboratory findings were lymphocytosis (41.7%), atypic lymphocytes (24.5%), and increased transaminases (30.9%), there were no rupture of the spleen and no deaths among the 163 cases. Conclusions Our results revealed that IM appeared in earlier ages compared with that reported in industrialized countries, where adolescents are the most affected group. Also, the order and frequency of the clinical manifestations were different in our country than in industrialized ones. PMID:22818256

  7. Endocarditis due to Lactobacillus jensenii in a Salvin's Amazon parrot (Amazona autumnalis salvini).

    PubMed

    Foldenauer, Ulrike; Rusch, Martina; Simova-Curd, Stefka; Nitzl, Dagmar; Hoop, Richard K; Hatt, Jean-Michel

    2009-02-01

    A 30-year-old Salvin's Amazon parrot (Amazona autumnalis salvini) with a history of a lifelong poor diet and inappropriate housing was presented in lateral recumbency to a veterinary teaching hospital for further evaluation. Radiological and ultrasonographic examination revealed a mild proventricular dilatation, mild hepatomegaly, signs of enteritis and airsacculitis. The main laboratory findings included a mild macrocytic hyperchromic anaemia, hypoglobulinaemia, decreased bile acids and increased alkaline phosphatase. In this bird a liver pathology was suspected because of the clinical, laboratory and ultrasonographic findings. The bird was treated with supportive care and metabolic aids. After initial improvement of the clinical signs, the bird's condition deteriorated and it died. Pathological findings revealed an endocarditis and myocarditis due to Lactobacillus jensenii and a bacteraemia. Endocarditis due to Lactobacillus sp. is a rare phenomenon in humans not yet described in animals. It is associated with severe underlying illnesses leading to translocation of otherwise non-pathogenic bacteria in the bloodstream. A similar pattern might be assumed in animals with compromised immunity.

  8. Omega-6 and omega-3 oxylipins are implicated in soybean oil-induced obesity in mice.

    PubMed

    Deol, Poonamjot; Fahrmann, Johannes; Yang, Jun; Evans, Jane R; Rizo, Antonia; Grapov, Dmitry; Salemi, Michelle; Wanichthanarak, Kwanjeera; Fiehn, Oliver; Phinney, Brett; Hammock, Bruce D; Sladek, Frances M

    2017-10-02

    Soybean oil consumption is increasing worldwide and parallels a rise in obesity. Rich in unsaturated fats, especially linoleic acid, soybean oil is assumed to be healthy, and yet it induces obesity, diabetes, insulin resistance, and fatty liver in mice. Here, we show that the genetically modified soybean oil Plenish, which came on the U.S. market in 2014 and is low in linoleic acid, induces less obesity than conventional soybean oil in C57BL/6 male mice. Proteomic analysis of the liver reveals global differences in hepatic proteins when comparing diets rich in the two soybean oils, coconut oil, and a low-fat diet. Metabolomic analysis of the liver and plasma shows a positive correlation between obesity and hepatic C18 oxylipin metabolites of omega-6 (ω6) and omega-3 (ω3) fatty acids (linoleic and α-linolenic acid, respectively) in the cytochrome P450/soluble epoxide hydrolase pathway. While Plenish induced less insulin resistance than conventional soybean oil, it resulted in hepatomegaly and liver dysfunction as did olive oil, which has a similar fatty acid composition. These results implicate a new class of compounds in diet-induced obesity-C18 epoxide and diol oxylipins.

  9. Molecular and immunological diagnosis of echinococcosis.

    PubMed Central

    Gottstein, B

    1992-01-01

    Echinococcosis is an infectious disease of humans caused by the larval (metacestode) stage of the cestode species Echinococcus granulosus (cystic echinococcosis or hydatid disease) or Echinococcus multilocularis (alveolar echinococcosis or alveolar hydatid disease). Clinical manifestations depend primarily on localization and size of hepatic lesions and may include hepatomegaly, obstructive jaundice, or cholangitis. Prognostically, alveolar echinococcosis is considered similar to liver malignancies, including a lethality rate of 90% for untreated cases. Diagnosis is based on imaging techniques coupled with immunodiagnostic procedures. Antibody detection tests for E. multilocularis have markedly improved with the use of affinity-purified Em2 antigen and recombinant antigen II/3-10 in enzyme immunoassays. Antigens of corresponding quality for E. granulosus are still unavailable. The detection of circulating antigens and immune complexes in the sera of patients with cystic echinococcosis, the demonstration of in vitro lymphocyte proliferation in response to stimulation with Echinococcus antigens, and the discrimination of serum immunoglobulin isotype activity to various Echinococcus antigens in both cystic and alveolar echinococcosis have been suggested for diagnostic purposes as well as for monitoring patients after treatment. New diagnostic molecular tools include DNA probes for Southern hybridization tests and polymerase chain reaction for the amplification of E. multilocularis and E. granulosus species-specific DNA fragments. Images PMID:1498767

  10. Liver complications in lymphomas treated with a combination of chemotherapy and radiotherapy: preliminary results

    SciTech Connect

    Haddad, E.; Le Bourgeois, J.P.; Kuentz, M.; Lobo, P.

    1983-09-01

    From May 1978 to May 1981, a total of 20 patients (18 patients with Non Hodgkin Lymphomas + 2 patients with Stage IV Hodgkin's disease) were treated with chemotherapy and whole or upper abdominal radiotherapy. All the patients were in complete remission at the time of irradiation. Shielding of the kidneys was effected at the start of treatment and the right lobe of the liver was shielded after a dose of 20 Gy was delivered. As of January 1982, 17 of the patients were alive and free of disease with a follow-up ranging from 6 to 32 months (mean follow-up of 18.5 months). Two patients were dead from their disease. Alterations in liver chemistry were observed in 5 patients, clinical jaundince or transient hepatomegaly along with changes in liver chemistry in 4 patients, classical veno-occlusive disease in 2 patients and 7 of the patients did not develop any complication. No death from complications were observed. The contribution of the following factors such as radiotherapy dose to the liver, drugs, nutritional status and associated medical conditions, towards the development of complications have been analyzed in detail.

  11. A PELAGIC OUTBREAK OF AVIAN CHOLERA IN NORTH AMERICAN GULLS: SCAVENGING AS A PRIMARY MECHANISM FOR TRANSMISSION?

    PubMed

    Wille, Michelle; McBurney, Scott; Robertson, Gregory J; Wilhelm, Sabina I; Blehert, David S; Soos, Catherine; Dunphy, Ron; Whitney, Hugh

    2016-10-01

    Avian cholera, caused by the bacterium Pasteurella multocida , is an endemic disease globally, often causing annual epizootics in North American wild bird populations with thousands of mortalities. From December 2006 to March 2007, an avian cholera outbreak caused mortality in marine birds off the coast of Atlantic Canada, largely centered 300-400 km off the coast of the island of Newfoundland. Scavenging gulls ( Larus spp.) were the primary species detected; however, mortality was also identified in Black-legged Kittiwakes ( Rissa tridactyla ) and one Common Raven ( Corvus corax ), a nonmarine species. The most common gross necropsy findings in the birds with confirmed avian cholera were acute fibrinous and necrotizing lesions affecting the spleen, air sacs, and pericardium, and nonspecific hepatomegaly and splenomegaly. The etiologic agent, P. multocida serotype 1, was recovered from 77 of 136 carcasses examined, and confirmed or probable avian cholera was diagnosed in 85 cases. Mortality observed in scavenging gull species was disproportionately high relative to their abundance, particularly when compared to nonscavenging species. The presence of feather shafts in the ventricular lumen of the majority of larid carcasses diagnosed with avian cholera suggests scavenging of birds that died from avian cholera as a major mode of transmission. This documentation of an outbreak of avian cholera in a North American pelagic environment affecting primarily scavenging gulls indicates that offshore marine environments may be a component of avian cholera dynamics.

  12. Evaluation of childhood brucellosis in the central Black Sea region.

    PubMed

    Çıraklı, Sevgi; Karlı, Arzu; Şensoy, Gülnar; Belet, Nurşen; Yanık, Keramettin; Çıraklı, Alper

    2015-01-01

    Brucellosis is a systemic infectious disease that leads to various clinical pictures and is still a significant health problem in Turkey. In this study, 52 pediatric patients diagnosed with brucellosis between January 2008 and December 2013 were examined. Clinical and laboratory findings, response to treatment, prognosis and complications were evaluated. Diagnosis of brucellosis was made based on a clinical picture compatible with the disease, together with standard tube agglutination test (SAT) positivity (1/160 or higer titer) or isolation of Brucella spp. in a sterile body fluid culture. The cases comprised 10 females and 42 males. In 75% of cases, there was a history of consumption of unpasteurized milk or dairy products. The most commonly seen symptoms and findings were fever (75%), arthralgia (54%), fatigue (19%), splenomegaly (44%), hepatomegaly (42%) and arthritis (19%). Atypical presentations were seen in one case of epidydymo-orchitis and three cases of bleeding of the nose and gums. In the laboratory examinations, anemia was determined in 56% of cases, leukopenia in 40% and thrombocytopenia in 27%. In blood cultures taken from 41 patients, Brucella spp. were isolated in 23 (56.1%). All patients recovered, and sequelae were seen only in a patient with osteoarthritis. In conclusion, although brucellosis leads to many different clinical pictures, a very good response to treatment can be obtained. If effective treatment cannot be implemented in time, the disease may become chronic, and complications and relapses may be encountered. Therefore, early diagnosis and treatment is of great importance.

  13. Yap reprograms glutamine metabolism to increase nucleotide biosynthesis and enable liver growth

    PubMed Central

    Brown, Kristin K.; Evason, Kimberley; Beltz, Sebastian; Tsomides, Allison; O'Connor, Keelin; Galli, Giorgio G.; Yimlamai, Dean; Chhangawala, Sagar; Yuan, Min; Lien, Evan C.; Wucherpfennig, Julia; Nissim, Sahar; Minami, Akihiro; Cohen, David E.; Camargo, Fernando D.; Asara, John M.; Houvras, Yariv; Stainier, Didier Y.R.; Goessling, Wolfram

    2016-01-01

    The Hippo pathway is an important regulator of organ size and tumorigenesis. It is unclear, however, how Hippo signaling provides the cellular building blocks required for rapid growth. Here, we demonstrate that transgenic zebrafish expressing an activated form of the Hippo pathway effector Yap1 (also known as YAP) develop enlarged livers and are prone to liver tumor formation. Transcriptomic and metabolomic profiling identify that Yap1 reprograms glutamine metabolism. Yap1 directly enhances glutamine synthetase (glul) expression and activity, elevating steady-state levels of glutamine and enhancing the relative isotopic enrichment of nitrogen during de novo purine and pyrimidine biosynthesis. Genetic or pharmacological inhibition of GLUL diminishes the isotopic enrichment of nitrogen into nucleotides, suppresses hepatomegaly and the growth of liver cancer cells. Consequently, Yap-driven liver growth is susceptible to nucleotide inhibition. Together, our findings demonstrate that Yap1 integrates the anabolic demands of tissue growth during development and tumorigenesis by reprogramming nitrogen metabolism to stimulate nucleotide biosynthesis. PMID:27428308

  14. Role of macrophages and stellate cells in the pathogenesis of veno-occlusive disease: an electron microscopic case study.

    PubMed

    Tang, Wendell; Ziring, David; Gershman, George; French, Samuel

    2003-12-01

    Veno-occlusive disease (VOD) is an entity described as a triad of pathologic findings including ascites, tender hepatomegaly, and elevated liver enzymes. The prognosis of patients suffering from VOD is highly variable, ranging from slow resolution to the need for liver transplant. The histopathology of VOD has been described by light and electron microscopy. However, the pathogenesis of VOD is still largely unclear. In the present case study, we report the significant findings in a case of pediatric VOD following chemotherapy. We studied the liver biopsy by light and electron microscopes. In addition to previous reported findings of occlusion of the central vein with endothelial cell damage, proliferation and activation of stellate cells, and collagen deposition in the central vein wall, there were prominent activated macrophages within the lumen and wall of central veins. The following mechanism of VOD was proposed: Tissue damage activates monocytes through monocyte chemoattractant protein-1. The secretory macrophages release TGF-beta, which promotes proliferation of stellate cells to cause collagenous thickening of the central vein. The activated stellate cells produce collagen. The normal drainage of the Space of Disse and sinusoids draining into the central vein are blocked by the fibrosis. This leads to extravasated RBCs trapped within the thickened central vein wall and impaction of RBCs in the sinusoids.

  15. Primary hyperoxaluria in an adult presenting with end-stage renal failure together with hypercalcemia and hypothyroidism.

    PubMed

    Karadag, Serhat; Gursu, Meltem; Aydin, Zeki; Uzun, Sami; Dogan, Oner; Ozturk, Savas; Kazancioglu, Rumeyza

    2011-10-01

    Primary hyperoxaluria (PH) is a rare genetic disorder characterized by overproduction of oxalate due to specific enzyme deficiencies in glyoxylate metabolism. The primary clinical presentation is in the form of recurrent urolithiasis, progressive nephrocalcinosis, end-stage renal disease, and systemic oxalosis. Herein, we present a case of PH who was diagnosed at 47 years of age after 6 years on hemodialysis. He presented with fatigue, anorexia, weight loss, and was found to have cachexia, diffuse edema, hepatomegaly, ascites, hypercalcemia, hyperphosphatemia, hypoalbuminemia, low parathyroid hormone levels, lytic and resorptive areas in the vertebrae, diffusely increased echogenity of the liver, multiple renal stones, and bilateral nephrocalcinosis. Bone marrow biopsy showed calcium oxalate crystals and crystal granulomas. The liver biopsy could not be performed. The absence of an identifiable reason for secondary forms, the severity of the clinical presentation, and pathological findings led to the diagnosis of PH2. He died while waiting for a potential liver and kidney donor. The presented case is consistent with the literature as he had renal stone disease in the third decade and end-stage renal disease in the fifth decade. Hypercalcemia was thought to be due to osteoclast-stimulating activity of macrophages constituting the granuloma. Erythropoietin-resistant anemia and hypothyroidism were thought to be due to accumulation of oxalate in the bone marrow and thyroid gland, respectively. It is very important to keep in mind the possibility of PH when faced with a patient with nephrocalcinosis and oxalate stone disease.

  16. Intrathecal triple therapy decreases central nervous system relapse but fails to improve event-free survival when compared with intrathecal methotrexate: results of the Children's Cancer Group (CCG) 1952 study for standard-risk acute lymphoblastic leukemia, reported by the Children's Oncology Group

    PubMed Central

    Matloub, Yousif; Lindemulder, Susan; Gaynon, Paul S.; Sather, Harland; La, Mei; Broxson, Emmett; Yanofsky, Rochelle; Hutchinson, Raymond; Heerema, Nyla A.; Nachman, James; Blake, Marilyn; Wells, Linda M.; Sorrell, April D.; Masterson, Margaret; Kelleher, John F.; Stork, Linda C.

    2006-01-01

    The Children's Cancer Group (CCG) 1952 clinical trial for children with standard-risk acute lymphoblastic leukemia (SR-ALL) compared intrathecal (IT) methotrexate (MTX) with IT triples (ITT) (MTX, cytarabine, and hydrocortisone sodium succinate [HSS]) as presymptomatic central nervous system (CNS) treatment. Following remission induction, 1018 patients were randomized to receive IT MTX and 1009 ITT. Multivariate analysis identified male sex, hepatomegaly, CNS-2 status, and age younger than 2 or older than 6 years as significant predictors of isolated CNS (iCNS) relapse. The 6-year cumulative incidence estimates of iCNS relapse are 3.4% ± 1.0% for ITT and 5.9% ± 1.2% for IT MTX; P = .004. Significantly more relapses occurred in bone marrow (BM) and testicles with ITT than IT MTX, particularly among patients with T-cell phenotype or day 14 BM aspirate containing 5% to 25% blasts. Thus, the estimated 6-year event-free survivals (EFS) with ITT or IT MTX are equivalent at 80.7% ± 1.9% and 82.5% ± 1.8%, respectively (P = .3). Because the salvage rate after BM relapse is inferior to that after CNS relapse, the 6-year overall survival (OS) for ITT is 90.3% ± 1.5% versus 94.4% ± 1.1% for IT MTX (P = .01). It appears that ITT improves presymptomatic CNS treatment but does not improve overall outcome. PMID:16609069

  17. Self-healing juvenile cutaneous mucinosis

    PubMed Central

    Kołodziejczyk, Beata; Gazda, Agnieszka; Hernik, Elżbieta; Szczygielska, Izabela; Koprowska, Marta Legatowicz

    2017-01-01

    Girl, aged 4 years old, began the disease with pain of the lower extremities, fever up to 38°C and signs of upper airway infection. Then the patient developed oedema and redness of the whole face, thickened skin, subcutaneous nodular foldings of the frontal, occipital, cervical and axillary regions, extensor areas of the joints; fine, hard whitish nodules in the frontal region and over interphalangeal joints of the hands, pruritus; oedemas of the ankles, knees and joints of the hands, cervical lymphadenopathy and hepatomegaly. Blood tests at the moment of the diagnosis revealed elevation of markers of inflammation as ESR and CRP, leukocytosis, thrombocytosis, hypoalbuminemia, and hyper-alfa-2-globulinemia. Histopathological examination of the skin biopsy specimen and subcutaneous tissue revealed myxoid subcutaneous tissue located under the dermis and a section consisting of myxoid mesenchymal tissue with inflammatory infiltration by histiocytic cells. The presence of acid mucopolysaccharides in fields of the myxoid tissue was also observed. The self-healing juvenile cutaneous mucinosis (SJCM) was diagnosed. PMID:28386144

  18. [Asymptomatic human infection from contact with dogs: a case of human ehrlichiosis].

    PubMed

    Beatriz Silva, Angela; Pina Canseco, Socorro; Gabriel de la Torre, María Del Pilar; Mayoral Silva, Alejandro; Mayoral, Miguel Ángel; Pérez-Campos Mayoral, Laura; López Martínez, Jael; Pérez-Campos, Eduardo

    2014-01-01

    Living with dogs leads one to consider the necessity of identifying canine infections found in the people with whom the dogs live. Dogs which were clinically and serologically positive with the infections Ehirlichia canis, Anaplasma phagocytophilum, Borrelia burgdorferi, and Dirofilaria Immitis were sought. People with the same infections were also identified. From a population of 80 dogs identified in the villages of San Bartolo Coyotepec and San Agustín Etla (suburbs peripheral to the city of Oaxaca, Mexico), 27 dogs were selected for study, all of which had adenomegaly, hepatomegaly, splenomegaly, and fevers of at least 43° C. Using enzyme immunoassay in this population of dogs and their closest human contacts, antibodies for Ehirlichia canis, Anaplasma phagocytophilum, Borrelia burgdorferi, and the antigen for Dirofilaria immitis were sought. Positive results in humans were confirmed by polymerase chain reaction (PCR). Ten dogs with the clinical signs mentioned above tested positive for antibodies to Ehrlichia canis; two cases tested positive for Anaplasma phagocytophilum; one case tested positive for Dirofilaria Immitis. From human contact, one person tested positive for Ehirlichia canis; this case was confirmed by DNA amplification by means of PCR. It is necessary to identify the population of sick dogs in order to reduce related infections in people.

  19. RB tumor suppressive function in response to xenobiotic hepatocarcinogens.

    PubMed

    Reed, Christopher; Hutcheson, Jack; Mayhew, Christopher N; Witkiewicz, Agnieszka K; Knudsen, Erik S

    2014-06-01

    Diverse etiologic events are associated with the development of hepatocellular carcinoma. During hepatocarcinogenesis, genetic events likely occur that subsequently cooperate with long-term exposures to further drive the progression of hepatocellular carcinoma. In this study, the frequent loss of the retinoblastoma (RB) tumor suppressor in hepatocellular carcinoma was modeled in response to diverse hepatic stresses. Loss of RB did not significantly affect the response to a steatotic stress as driven by a methionine- and choline-deficient diet. In addition, RB status did not significantly influence the response to peroxisome proliferators that can drive hepatomegaly and tumor development in rodents. However, RB loss exhibited a highly significant effect on the response to the xenobiotic1,4-Bis-[2-(3,5-dichloropyridyloxy)] benzene. Loss of RB yielded a unique proliferative response to this agent, which was distinct from both regenerative stresses and genotoxic carcinogens. Long-term exposure to 1,4-Bis-[2-(3,5-dichloropyridyloxy)] benzene yielded profound tumor development in RB-deficient livers that was principally absent in RB-sufficient tissue. These data demonstrate the context specificity of RB and the key role RB plays in the suppression of hepatocellular carcinoma driven by xenobiotic stress.

  20. The Syndrome of Veno-occlusive Disease After Blood or Marrow Transplantation.

    PubMed

    Carreras, E; Rozman, C

    1998-01-01

    Veno-occlusive disease of the liver (VOD) was originally described in patients who drank infusions made with plants containing pyrrolizidine alkaloids [1]. This disease was characterized, histologically, by a progressive and concentric non-thrombotic narrowing of the lumina of small intrahepatic veins. Later, VOD was related to other pathogens such as alcohol, contraceptives, toxic oil, liver radiation and several antineoplastic drugs [2-3]. The first case of veno-occlusive disease following bone marrow transplantation (BMT) was reported in 1979 [4]. Since then, BMT has proved to be the main cause of VOD which is one of the leading causes of morbidity and mortality after transplant [5-7]. Clinical manifestations of VOD are very characteristic (jaundice, painful hepatomegaly and fluid retention) but indistinguishable from those produced by other regime-related morphological changes on zone 3 of the liver acinus. For this reason, the term "syndrome of veno-occlusive disease of the liver" has been adopted to designate the clinical manifestations of conditioning regimen toxicity on this zone [8]. This review focuses on the present knowledge of VOD syndrome after BMT.

  1. Hodgkin's disease presenting as a cholestatic febrile illness: incidence and main characteristics in a series of 421 patients.

    PubMed

    Cervantes, F; Briones, J; Bruguera, M; Font, C; Grau, J M; Rozman, C; Montserrat, E

    1996-06-01

    In order to determine the frequency and characteristics of patients with liver abnormalities as the presenting manifestation of Hodgkin's disease (HD), 421 consecutive HD patients were studied. Six patients in the series (1.4%) presented with liver abnormalities that led to of a liver biopsy and the subsequent diagnosis of HD. All had fever prior to HD diagnosis, four frank jaundice, and one hepatic failure. No patient had pruritus. Moderate hepatomegaly was present in four patients. Cholestasis was observed in all cases; in most patients a moderate increase in the transaminase activity was also seen. Two patients had a mild rise in the serum LDH, four had leukopenia, and one eosinophilia. At liver histologic study, Reed-Sternberg cells were demonstrated in four patients; in the remaining two, the presence of atypical histiocytes, lymphocytes, and eosinophils was highly suggestive of HD, the latter diagnosis being confirmed by subsequent study of bone marrow and/or retroperitoneal lymphadenopathies. In three of the six patients, HD was not demonstrated in sites other than the liver. Three patients older than 60 years died shortly after HD diagnosis. By contrast, three patients younger than 40 years showed a dramatic response to chemotherapy: two of them had a further relapse, and one is considered cured after 14 years of continuous remission. Liver disease constitutes an infrequent form of HD presentation which must be included in the differential diagnosis of any patient with fever of unknown origin.

  2. The changing profile of idiopathic myelofibrosis: a comparison of the presenting features of patients diagnosed in two different decades.

    PubMed

    Cervantes, F; Pereira, A; Esteve, J; Cobo, F; Rozman, C; Montserrat, E

    1998-02-01

    In an attempt to ascertain whether the presenting features of idiopathic myelofibrosis (IM) have changed in recent years, 2 groups of patients diagnosed with IM in a single institution in different time periods were compared. The first group included 53 patients diagnosed from 1975 to 1986, and the second included 56 patients diagnosed from 1987 to 1997. No significant differences were observed between the two groups with regard to age, gender, delay from first symptoms to disease diagnosis, peripheral blood hematological values and serum biochemical parameters. Patients diagnosed prior to 1987 presented more often with constitutional symptoms (fever, night sweats, weight loss), but the difference did not reach statistical significance. These latter patients had, however, a higher frequency of splenomegaly (91% vs. 73%, p=0.01) and hepatomegaly (79% vs. 48%, p=0.002), and were more often in the osteosclerotic phase at diagnosis (p=0.05) than patients more recently diagnosed. Finally, no significant differences were found between both groups in either the distribution by prognostic scores or survival. The above results seem to indicate a trend towards a less florid clinical picture of IM at presentation in recent years. This, however, does not result in a longer patient survival.

  3. Hepatic disease in patients with acquired immunodeficiency syndrome (AIDS).

    PubMed

    Lodenyo, Hudson; Segal, Issy

    2004-01-01

    The acquired immunodeficiency syndrome is now the leading cause of death in the world. Liver involvement in opportunistic infections and neoplasms affecting patients with human immunodeficiency disease syndrome are common. Many of these patients also take many medicines and toxins that are potentially harmful to the liver. This is an overview on the aetiology and possible diagnostic guide to determine liver involvement in patients with HIV infection. A literature review was performed on major published series on the liver and HIV infection between 1985 and 1999, both years inclusive. Data and opinions from 5 general reviews and 31 original articles from MEDLINE on liver disease in patients with HIV infection regarding aetiology, pathology, presentation and patient evaluation are summarised. The liver is frequently affected in patients with AIDS. The majority of the patients have hepatomegaly and abnormal liver enzymes secondary to involvement with opportunities infections, AIDS associated neoplasms and drug therapy. Most of the infections reach the liver by lymphohaematogeneous spread from other sites in the body. Methodical approach in patient evaluation is therefore essential for prompt diagnosis and treatment to minimise morbidity and early mortality.

  4. Clinical and pathologic findings of the liver in the acquired immune deficiency syndrome (AIDS).

    PubMed

    Glasgow, B J; Anders, K; Layfield, L J; Steinsapir, K D; Gitnick, G L; Lewin, K J

    1985-05-01

    Clinical data and histologic sections of the liver, including immunohistochemical studies for hepatitis B surface and core antigens, were reviewed in 42 autopsy cases of the acquired immune deficiency syndrome (AIDS). Hepatomegaly, elevation of serum transaminases, and mild elevation of alkaline phosphatase were commonly observed clinical and biochemical abnormalities. Mildly elevated alkaline phosphatase and normal bilirubin levels were present in patients with Mycobacterium avium-intracellulare (MAI) infection, cytomegalovirus (CMV) infection, and Kaposi's sarcoma (KS). Histologic sections demonstrated liver involvement by MAI in eight cases; KS in six cases; cryptococcus in three cases; and CMV in two cases. One case of MAI infection was associated with marked central vein sclerosis, a finding previously unreported. Thirty-two (76%) of 42 cases had serologic or pathologic evidence of hepatitis exposure. Two patients had histologic evidence of chronic active hepatitis. The pathologic processes involving the liver appeared to be secondary to the infections and neoplasms for which this population is susceptible and did not significantly contribute to morbidity or mortality. No findings specific or pathognomic for AIDS were identified in the liver.

  5. Natural Progression of Canine Glycogen Storage Disease Type IIIa.

    PubMed

    Brooks, Elizabeth D; Yi, Haiqing; Austin, Stephanie L; Thurberg, Beth L; Young, Sarah P; Fyfe, John C; Kishnani, Priya S; Sun, Baodong

    2016-02-01

    Glycogen storage disease type IIIa (GSD IIIa) is caused by a deficiency of glycogen debranching enzyme activity. Hepatomegaly, muscle degeneration, and hypoglycemia occur in human patients at an early age. Long-term complications include liver cirrhosis, hepatic adenomas, and generalized myopathy. A naturally occurring canine model of GSD IIIa that mimics the human disease has been described, with progressive liver disease and skeletal muscle damage likely due to excess glycogen deposition. In the current study, long-term follow-up of previously described GSD IIIa dogs until 32 mo of age (n = 4) and of family-owned GSD IIIa dogs until 11 to 12 y of age (n = 2) revealed that elevated concentrations of liver and muscle enzyme (AST, ALT, ALP, and creatine phosphokinase) decreased over time, consistent with hepatic cirrhosis and muscle fibrosis. Glycogen deposition in many skeletal muscles; the tongue, diaphragm, and heart; and the phrenic and sciatic nerves occurred also. Furthermore, the urinary biomarker Glc4, which has been described in many types of GSD, was first elevated and then decreased later in life. This urinary biomarker demonstrated a similar trend as AST and ALT in GSD IIIa dogs, indicating that Glc4 might be a less invasive biomarker of hepatocellular disease. Finally, the current study further demonstrates that the canine GSD IIIa model adheres to the clinical course in human patients with this disorder and is an appropriate model for developing novel therapies.

  6. Toxicity Effects of Toad (Rhinella jimi Stevaux, 2002) Venom in Chicken (Gallus gallus domesticus)

    PubMed Central

    Gadelha, Ivana Cristina Nunes; de Lima, Joseney Maia; Batista, Jael Soares; Melo, Marilia Martins

    2014-01-01

    This study aimed to evaluate the pathological changes that occur after administering different doses of R. jimi (Stevaux, 2002) parotoid glands secretion to Gallus gallus domesticus chicks. Twenty-three animals were used in this study and were divided into 5 groups that received a toad venom dose of 0, 3.0 mg/kg, 6.0 mg/kg, 10.0 mg/kg, and 25.0 mg/kg. After 48 h, the necropsy and pathological examinations were performed. No clinical signs of toxicity were observed in any group. Macroscopically, hepatomegaly, areas of liver necrosis, splenomegaly, necrotic and hemorrhagic cardiac regions, hydropericardium, dark necrotic lesions of Meckel's diverticulum, and hemorrhages in the lungs and kidneys were detected. Histopathological changes included diffuse vacuolar degeneration of hepatocytes, severe sinusoidal congestion, focal areas of hemorrhage in the parenchyma, swollen cardiac fibers, necrotic myocardial fibers, moderate to acute diffuse alveolar hemorrhage, vacuolar degeneration of the renal tubular epithelium, necrosis of renal tubules, and extensive hemorrhagic areas below the brain and cerebellar meninges. In conclusion, pathological changes of the R. jimi toxins in chicks were noted in the heart, spleen, liver, Meckel's diverticulum, lungs, and kidneys. Most of the changes were similar to those observed in humans and animals exposed to toxins from other toad species. PMID:25045748

  7. Inhibiting heat shock protein 90 (HSP90) limits the formation of liver cysts induced by conditional deletion of Pkd1 in mice.

    PubMed

    Smithline, Zachary B; Nikonova, Anna S; Hensley, Harvey H; Cai, Kathy Q; Egleston, Brian L; Proia, David A; Seeger-Nukpezah, Tamina; Golemis, Erica A

    2014-01-01

    Polycystic liver disease (PLD) occurs in 75-90% of patients affected by autosomal dominant polycystic kidney disease (ADPKD), which affects 1∶400-1,000 adults and arises from inherited mutations in the PKD1 or PKD2 genes. PLD can lead to bile duct obstructions, infected or bleeding cysts, and hepatomegaly, which can diminish quality of life. At present, no effective, approved therapy exists for ADPKD or PLD. We recently showed that inhibition of the molecular chaperone heat shock protein 90 (HSP90) with a small molecule inhibitor, STA-2842, induced the degradation of multiple HSP90-dependent client proteins that contribute to ADPKD pathogenesis and slowed the progression of renal cystogenesis in mice with conditional deletion of Pkd1. Here, we analyzed the effects of STA-2842 on liver size and cystic burden in Pkd-/- mice with established PLD. Using magnetic resonance imaging over time, we demonstrate that ten weeks of STA-2842 treatment significantly reduced both liver mass and cystic index suggesting selective elimination of cystic tissue. Pre-treatment cystic epithelia contain abundant HSP90; the degree of reduction in cysts was accompanied by inhibition of proliferation-associated signaling proteins EGFR and others, and induced cleavage of caspase 8 and PARP1, and correlated with degree of HSP90 inhibition and with inactivation of ERK1/2. Our results suggest that HSP90 inhibition is worth further evaluation as a therapeutic approach for patients with PLD.

  8. Hepatoblastoma in adult age. A case report and literature review.

    PubMed

    Remes-Troche, José M; Montaño-Loza, Aldo; Meza-Junco, Judith; García-Leiva, Jorge; Torre-Delgadillo, Aldo

    2006-01-01

    Hepatoblastoma (HB) rarely occurs in adults. We report herein the unusual case of a 19-year-old, otherwise healthy woman with no history of liver disease who presented with upper abdominal pain and hepatomegaly. Tests for hepatitis B virus (HBV), hepatitis C virus (HCV) were negative, and AFP was normal. There was no evidence of liver cirrhosis. A welldemarcated solid mass of 14 cm in diameter, which was lobulated and partly necrotic, was detected in the liver by computed tomography (CT). At surgical exploration a large liver mass was detected occupying the entire right lobe. A right trisegmentectomy was performed with tumor grossly resected with microscopic residual disease (i.e positive margins). On microscopic examination the tumor was composed mainly of two components which were intermingled: epithelial and mesenchymal elements. The epithelial component was formed of small embryonal cells, grouped into nodules, scattered in cellular mesenchymal tissue. The diagnosis was mixed hepatoblastoma. The patient received 4 cycles of systemic chemotherapy with cisplatinum and adriamycin. Post-chemotherapy evaluation revealed recurrence of the hepatoblastoma in the remaining liver. She died 6 months later.

  9. Subacute intramuscular toxicity of the acetylcholinesterase reactivating agent Hi-6 in rats and dogs. (Reannouncement with new availability information)

    SciTech Connect

    Levine, B.S.; Tomlinson, M.J.

    1993-12-31

    Studies herein describe the toxicity of HI-6 in Sprague-Dawley rats and Beagle dogs following i.m. injection for 14 days. Dose levels were 0, 50, 150, and 450 mg/kg/day for 10 rats/sex/dose and 0, 35, 70, and 140 mg/kg/day for 4 dogs/sex/dose. Three rats at the high dose, 2 males and 1 female, died prior to scheduled sacrifice. Reduced weight gain, decreased activity, tremors, hunched posture,and poor grooming were seen in high dose survivors. Increased alanine aminotransferase (ALT) and aspartate aminotransferase (AST) activities at the mid and high doses suggested hepatotoxicity, although liver weights and histology were normal. Hematology parameters were unaffected except for slight, dose-related increases of platelets in both sexes. Injection site inflammation was seen; however, serum creatine kinase activity was not altered. In dogs, slight weight loss, vomiting, salivation, and diarrhea occurred at the high dose, but no deaths were observed at any of the doses. As with rats, dose-related increases in ALT and AST activities occurred at the mid and high doses, and were, in this case, accompanied at the high dose by hepatomegaly and hepatocellular vacuolization. Cardiotoxicity was evidenced by increased relative heart weights and subtle ECG changes, the latter of which occurred almost exclusively at the highest dose. Injection site inflammation, which was accompanied by dose-related elevations in serum CK-MM2 activity, was also observed.

  10. Multicentric Castleman's Disease in a Hepatitis C-Positive Intravenous Drug User: A Case Report

    PubMed Central

    Talukder, D. Y.; Delpachitra, S. N.

    2011-01-01

    Introduction. We report a rare presentation of Castleman's disease in a hepatitis C-positive patient and present a short review of treatments described in other similar case reports and studies. Case Presentation. A 46-year-old male with untreated hepatitis C and a 16-year history of intravenous drug use presented with pleuritic chest pain and bony pain in the knee, hip, and lower back, on a background of unexplained weight loss of 40 kilograms, fevers, night sweats, and repeated infections over the last two years. Examination discovered tender hepatomegaly, a warm right knee effusion, and painless lymphadenopathy. The patient was reactive to Epstein Barr virus and cytomegalovirus; however, HIV and HHV-8 viral testing was negative. Osteomyelitis of vertebrae T8–T11 and septic arthritis of the knee were found on investigation. A lymph node biopsy revealed histology suggestive of plasmacytic Castleman's disease. The patient is to commence rituximab treatment. Conclusion. Castleman's disease continues to present in novel ways, which may lead to difficulties in clinicopathologic diagnosis. A growing body of evidence suggests larger studies are required to determine the best treatment for multicentric Castleman's disease, particularly in patients with a concomitant disease, including hepatitis C. PMID:21577263

  11. Pancytopenia in nutritional megaloblastic anaemia. A study from north-west India.

    PubMed

    Sarode, R; Garewal, G; Marwaha, N; Marwaha, R K; Varma, S; Ghosh, K; Mohanty, D; Das, K C

    1989-10-01

    We have analysed 139 consecutive cases (71 males and 68 females) of nutritional megaloblastic anaemia over a period of four and a half years. The majority of these patients belonged to the low socio-economic class and many of them were strict vegetarians. Sixty one percent were in the second and third decades of life. At the time of presentation, 46% had mild hepatomegaly, 42% fever, 34% mild splenomegaly and 20% bleeding manifestations. Of 102 cases in whom the biochemical parameters were available, vitamin B12 deficiency was detected in 76%, folate deficiency in 6.8%, combined B12 and folate deficiency in 8.8%; the remaining 7.8% had normal vitamin levels at presentation. All 139 patients had severe anaemia, 80.5% had thrombocytopenia and 43.8% had neutropenia as well as thrombocytopenia. It appears that during progression (in terms of duration) of megaloblastosis, anaemia is followed by thrombocytopenia and then neutropenia. Infection and bleeding in these patients may be aggravated by impaired functions of neutrophils and platelets, respectively.

  12. Fatty Acid Accumulation and Resulting PPARα Activation in Fibroblasts due to Trifunctional Protein Deficiency

    PubMed Central

    Wakabayashi, Masato; Kamijo, Yuji; Nakajima, Takero; Tanaka, Naoki; Sugiyama, Eiko; Yangyang, Tian; Kimura, Takefumi; Aoyama, Toshifumi

    2012-01-01

    To examine fatty acid accumulation and its toxic effects in cells, we analyzed skin fibroblasts from six patients with mitochondrial trifunctional protein deficiency, who had abnormalities in the second through fourth reactions in fatty acid β-oxidation system. We found free fatty acid accumulation, enhanced three acyl-CoA dehydrogenases, catalyzing the first reaction in the β-oxidation system and being assumed to have normal activities in these patients, and PPARα activation that was confirmed in the experiments using MK886, a PPARα specific antagonist and fenofibrate, a PPARα specific agonist. These novel findings suggest that the fatty acid accumulation and the resulting PPARα activation are major causes of the increase in the β-oxidation ability as probable compensation for fatty acid metabolism in the patients' fibroblasts, and that enhanced cell proliferation and increased oxidative stress due to the PPARα activation relate to the development of specific clinical features such as hypertrophic cardiomyopathy, slight hepatomegaly, and skeletal myopathy. Additionally, significant suppression of the PPARα activation by means of MK886 treatment is assumed to provide a new method of treating this deficiency. PMID:22654897

  13. C57BL/6 and A/J Mice Have Different Inflammatory Response and Liver Lipid Profile in Experimental Alcoholic Liver Disease

    PubMed Central

    Bavia, Lorena; de Castro, Íris Arantes; Isaac, Lourdes

    2015-01-01

    Alcoholic liver disease (ALD) is an important worldwide public health issue characterized by liver steatosis, inflammation, necrosis, and apoptosis of hepatocytes with eventual development of fibrosis and cirrhosis. Comparison of murine models with different inflammatory responses for ALD is important for an evaluation of the importance of genetic background in the interpretation of ethanol-induced phenotypes. Here, we investigated the role of inflammation and genetic background for the establishment of ALD using two different mouse strains: C57BL/6 (B6) and A/J. B6 and A/J mice were treated with a high fat diet containing ethanol (HFDE) and compared to the controls for 10 weeks. Hepatomegaly and steatohepatitis were similar in B6 and A/J mice, but only A/J mice were resistant to weight gain. On the other hand, HFDE-fed B6 accumulated more triglycerides (TG) and cholesterol and presented more intense cellular infiltrate in the liver when compared to HFDM-fed mice. Liver inflammatory environment was distinct in these two mouse strains. While HFDE-fed B6 produced more liver IL-12, A/J mice increased the TNF-α production. We concluded that mouse genetic background could dictate the intensity of the HFDE-induced liver injury. PMID:26448681

  14. Acne Fulminans: Case Series and Review of the Literature.

    PubMed

    Alakeel, Abdullah; Ferneiny, Marie; Auffret, Nicole; Bodemer, Christine

    2016-11-01

    Acne fulminans (AF) is a rare manifestation and the most severe form of the entire clinical spectrum of acne. The disease is destructive and is characterized by the sudden onset of painful and ulcerative pustules and systemic symptoms including high fever, hepatomegaly, polyarthralgia, leukocytosis, plaquetose, and increased inflammatory markers and transaminases. Osteolytic lesions in multiple skeletal sites could also be associated. The use of isotretinoin is considered a related trigger, as well as the use and cessation of testosterone, although a bacterial infection, a drug-induced disease, or an intake of anabolic androgenic steroids has been suggested. The treatment of AF is challenging and controversial. The recommended treatment is aggressive and consists of a combination of oral steroids and low doses of isotretinoin, with no consensus at this time. The patient may require several weeks of hospitalization to control the eruption. The cutaneous lesions usually leave scars and milia. We report on two boys and two girls presenting with AF, triggered by isotretinoin in three patients and by an antibiotic in one patient. All the patients treated with corticosteroids and isotretinoin with success.

  15. Very Early Presentation of Extrahepatic Portal Vein Obstruction Causing Portal Hypertension in an Infant: Uncertainties in the Management and Therapeutic Limitations.

    PubMed

    Khodayar-Pardo, Parisá; Peña Aldea, Andrés; Ramírez González, Ana; Meseguer Carrascosa, Adela; Calabuig Bayo, Cristina

    2016-01-01

    Extrahepatic portal vein obstruction, although rare in children, is a significant cause of portal hypertension (PHT) leading to life-threatening gastrointestinal bleeding in the pediatric age group. PHT may also lead to other complications such as hyperesplenism, cholangyopathy, ascites, and even hepatopulmonary syndrome and portopulmonary hypertension that may require organ transplantation. Herein we report the case of an asymptomatic 11-month-old infant wherein a hepatomegaly and cavernous transformation of the portal vein was detected by liver ultrasound. Neither signs of thrombosis in arteriovenous system, nor affectation of biliary tract were identified in the magnetic resonance imaging study. A significant enlargement of the caudate lobe of the liver was reported. No risk factors were detected. The differential diagnosis performed was extensive. Inherited thrombophilia and storage disorders were especially considered. Liver biopsy was normal. Upper gastrointestinal esophagogastroduodenoscopy detected two small varicose cords on the distal third of the esophagus. Finding a cavernous transformation of the portal vein with evidence of collateral circulation in such an early age is a challenging condition for professionals, since PHT may lead to severe complications during childhood and can compromise growth and development. Evidence-based guidelines for the management of PHT in adults have been published. However, follow-up and treatment of pediatric patients have not yet been standardized. Moreover, management of PHT in infants faces particular difficulties such as technical restrictions that could hinder their treatment.

  16. Peroxisome proliferator-activated receptor alpha protects against alcohol-induced liver damage.

    PubMed

    Nakajima, Tamie; Kamijo, Yuji; Tanaka, Naoki; Sugiyama, Eiko; Tanaka, Eiji; Kiyosawa, Kendo; Fukushima, Yoshimitsu; Peters, Jeffrey M; Gonzalez, Frank J; Aoyama, Toshifumi

    2004-10-01

    The mechanisms underlying alcoholic liver disease are not completely understood, but lipid accumulation seems to be central to the cause of this disease. The peroxisome proliferator-activated receptor alpha (PPARalpha) plays an important role in the control of lipid homeostasis, metabolism of bioactive molecules, and modulation of inflammatory responses. To investigate the roles of PPARalpha in alcoholic liver injury, wild-type and PPARalpha-null mice were continuously fed a diet containing 4% ethanol, and liver injury was analyzed. PPARalpha-null mice fed ethanol exhibited marked hepatomegaly, hepatic inflammation, cell toxicity, fibrosis, apoptosis, and mitochondrial swelling. Some of these hepatic abnormalities were consistent with those of patients with alcoholic liver injury and were not found in wild-type mice. Next, the molecular mechanisms of ethanol-induced liver injury in PPARalpha-null mice were investigated, and changes related to ethanol and acetaldehyde metabolism, oxidative stress, inflammation, hepatocyte proliferation, fibrosis, and mitochondrial permeability transition activation occurred specifically in PPARalpha-null mice as compared with wild-type mice. In conclusion, these studies suggest a protective role for PPARalpha in alcoholic liver disease. Humans may be more susceptible to liver toxicity induced by ethanol as PPARalpha expression in human liver is considerably lower compared to that of rodents.

  17. An Animal Model for the Juvenile Non-Alcoholic Fatty Liver Disease and Non-Alcoholic Steatohepatitis

    PubMed Central

    Marin, Veronica; Rosso, Natalia; Dal Ben, Matteo; Raseni, Alan; Boschelle, Manuela; Degrassi, Cristina; Nemeckova, Ivana; Nachtigal, Petr; Avellini, Claudio; Tiribelli, Claudio; Gazzin, Silvia

    2016-01-01

    Non Alcoholic Fatty Liver Disease (NAFLD) and Non-Alcoholic Steatohepatitis (NASH) are the hepatic manifestations of the metabolic syndrome; worrisome is the booming increase in pediatric age. To recreate the full spectrum of juvenile liver pathology and investigate the gender impact, male and female C57Bl/6 mice were fed with high fat diet plus fructose in the drinking water (HFHC) immediately after weaning (equal to 3-years old human), and disease progression followed for 16 weeks, until adults (equal to 30-years old human). 100% of subjects of both genders on HFHC diet developed steatosis in 4weeks, and some degree of fibrosis in 8weeks, with the 86% of males and 15% of females presenting a stage 2 fibrosis at 16weeks. Despite a similar final liver damage both groups, a sex difference in the pathology progression was observed. Alterations in glucose homeostasis, dyslipidemia, hepatomegaly and obese phenotype were evident from the very beginning in males with an increased hepatic inflammatory activity. Conversely, such alterations were present in females only at the end of the HFHC diet (with the exception of insulin resistance and the hepatic inflammatory state). Interestingly, only females showed an altered hepatic redox state. This juvenile model appears a good platform to unravel the underlying gender dependent mechanisms in the progression from NAFLD to NASH, and to characterize novel therapeutic approaches. PMID:27391242

  18. Case of hepatocellular carcinoma in a patient with hereditary tyrosinemia in the post-newborn screening era

    PubMed Central

    Imseis, Essam M; Bynon, John S; Thornhill, Chad

    2017-01-01

    Hereditary tyrosinemia type 1 (HT-1) is a metabolic disorder caused by a defect in tyrosine degradation. Without treatment, symptoms of hepatomegaly, renal tubular dysfunction, growth failure, neurologic crises resembling porphyrias, rickets and possible hepatocellular carcinoma can develop. The use of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione and early diagnosis through newborn screening initiatives have resulted in a sharp decline in morbidity and mortality associated with this disease. We present a case report of a 7-year-old patient with HT-1 who was born prior to the addition of tyrosinemia to the newborn screening in her birth area. At her time of diagnosis, the patient had developed many of the symptoms associated with her disease, including chronic kidney disease, rickets, and myopathy that left her non-ambulatory. During her initial evaluation, she was also noted to have hepatocellular carcinoma. With cadaveric liver transplantation and nutritional support, her symptoms all either resolved or stabilized. Her case illustrates the severity of the disease if left untreated, the need for vigilance in populations who do not routinely receive newborn screens, and the markedly improved outcomes in patients following transplant.

  19. Cardiac Tamponade Associated with the Presentation of Anaplastic Large Cell Lymphoma in a 2-Year-Old Child

    PubMed Central

    Mira-Perceval Juan, Gema; Alcalá Minagorre, Pedro J.; Huertas Sánchez, Ana M.; Segura Sánchez, Sheila; López Iniesta, Silvia; De León Marrero, Francisco J.; Costa Navarro, Estela; Niveiro de Jaime, María

    2015-01-01

    The anaplastic large cell lymphoma is a rare entity in pediatric patients. We present an unusual case of pericardial involvement, quite uncommon as extranodal presentation of this type of disorder, that provoked a life-risk situation requiring an urgent pericardiocentesis. To our knowledge, this is the first report on a child with pericardial involvement without an associated cardiac mass secondary to anaplastic large cell lymphoma in pediatric age. We report the case of a 21-month-old Caucasian male infant with cardiac tamponade associated with the presentation of anaplastic large cell lymphoma. Initially, the child presented with 24-day prolonged fever syndrome, cutaneous lesions associated with hepatomegaly, inguinal adenopathies, and pneumonia. After a 21-day asymptomatic period, polypnea and tachycardia were detected in a clinical check-up. Chest X-ray revealed a remarkable increase of the cardiothoracic index. The anaplastic large cell lymphoma has a high incidence of extranodal involvement but myocardial or pericardial involvements are rare. For this reason, we recommend a close monitoring of patients with a differential diagnosis of anaplastic large cell lymphoma. PMID:26435869

  20. Molecular diagnosis of Eimeria stiedae in hepatic tissue of experimentally infected rabbits.

    PubMed

    Hassan, Khaled M; Arafa, Waleed M; Mousa, Waheed M; Shokier, Khaled A M; Shany, Salama A; Aboelhadid, Shawky M

    2016-10-01

    The early detection of Eimeria stiedae in the hepatic tissue of experimentally infected rabbits was investigated using molecular assay. Forty 6-week-old male New Zealand rabbits were divided into two groups. Group A (30 animals) was infected with 2.5 × 10(4) sporulated oocysts of E. stiedae per animal on Day 0 and Group B (10 animals) was used as the uninfected controls. Three animals from Group A and one from Group B were sacrificed at 0, 3, 6, 9, 12, 15, 18, 21, 24 and 27 days post infection (PI). Gross and microscopic post-mortem findings were recorded. Polymerase chain reaction (PCR) of the E. stiedae internal transcribed spacer 1 genomic region was conducted on blood, liver tissue, and feces from the Group A experimentally infected animals. Macroscopically, the liver showed irregular yellowish white nodules pathognomonic to E. stiedae infection beginning on Day 15 PI. Hepatomegaly and ascites were obvious from Day 21-24 PI. The presence of different E. stiedae schizonts and gametocytes in the histopathological sections of the biliary epithelium were evident on Day 15 PI. The E. stiedae PCR was first positive in liver tissues on Day 12 and in fecal samples on Day 18 PI, but the blood samples were negative. In conclusion, the PCR can be used for early diagnosis and control of E. stiedae schizonts before shedding of the oocysts in feces.

  1. Clinical and Mutational Features of Three Chinese Children with Congenital Generalized Lipodystrophy

    PubMed Central

    Su, Xueying; Lin, Ruizhu; Huang, Yonglan; Sheng, Huiying; Li, Xiaofei; Ting, Tzer Hwu; Liu, Li; Li, Xiuzhen

    2017-01-01

    Objective: To investigate the clinical and molecular features of congenital generalized lipodystrophy (CGL) in three Chinese patients with various typical manifestations. Methods: Data on clinical symptoms, results of laboratory analyses, and previous treatments in three Chinese patients were collected by a retrospective review of medical records. All coding regions and adjacent exon–intron junction regions of AGPAT2 and BSCL2 genes were amplified by polymerase chain reaction and sequenced. Results: Generalized lipodystrophy, acanthosis nigricans, muscular hypertrophy, severe hypertriglyceridemia, and hepatomegaly were features in all three patients. Patient 1 developed diabetes mellitus at the early age of 2 months and he was the youngest CGL patient reported with overt diabetes. Patient 2 was found to have cardiomyopathy when she was aged 6 months. All of the patients were found to have mutations in the BSCL2 gene, but none of these was a novel mutation. We did not find any AGPAT2 mutation in our patients. Conclusion: All of our patients exhibited characteristic features of CGL due to mutations in the BSCL2 gene. PMID:27612026

  2. Diagnostic performance of Contrast-enhanced CT in Pyrrolizidine Alkaloids-induced Hepatic Sinusoidal Obstructive Syndrome

    PubMed Central

    Kan, Xuefeng; Ye, Jin; Rong, Xinxin; Lu, Zhiwen; Li, Xin; Wang, Yong; Yang, Ling; Xu, Keshu; Song, Yuhu; Hou, Xiaohua

    2016-01-01

    Hepatic sinusoidal obstruction syndrome (HSOS) can be caused by pyrrolizidine alkaloids(PAs)-containing herbals. Since PAs exposure is obscure and clinical presentation of HSOS is unspecific, it is challenge to establish the diagnosis of PAs-induced HSOS. Gynura segetum is one of the most wide-use herbals containing PAs. The aim of our study is to describe the features of contrast-enhanced computed tomography (CT) in gynura segetum-induced HSOS, and then determine diagnostic performance of radiological signs. We retrospectively analyzed medical records and CT images of HSOS patients (71 cases) and the controls (222 cases) enrolled from January 1, 2008, to Oct 31, 2015. The common findings of contrast CT in PAs-induced HSOS included: ascites (100%), hepatomegaly (78.87%), gallbladder wall thickening (86.96%), pleural effusion (70.42%), hepatic vein narrowing (87.32%), patchy liver enhancement (92.96%), and heterogeneous hypoattenuation (100%); of these signs, patchy enhancement and heterogeneous hypoattenuation were valuable features. Then, the result of diagnostic performance demonstrated that contrast CT possessed better performance in diagnosing PAs-induced HSOS compared with various parameters of Seattle criteria. In conclusion, the patients with PAs-induced HSOS display distinct radiologic features at CT-scan, which reveals that contrast-enhanced CT provides an effective noninvasive method for diagnosing PAs-induced HSOS. PMID:27897243

  3. Infantile hemangioendothelioma of the liver: a radiologic-pathologic-clinical correlation

    SciTech Connect

    Dachman, A.H.; Lichtenstein, J.E.; Friedman, A.C.; Hartman, D.S.

    1983-06-01

    Infantile hemangioendothelioma is the most common symptomatic vascular liver tumor of infancy. It is considered a benign tumor; however, aggressive behavior is occasionally seen microscopically, and rarely distant metastases have been reported. The exact incidence of infantile hemangioendothelioma is difficult to determine because often it has been either misdiagnosed or mislabeled as cavernous hemangioma in the literature. Cavernous hemangioma is the most common primary liver tumor in older age groups but is rarely found in infants as a clinically significant tumor. Levick and Rubie were the first to recognize an association between hemangioendothelioma of the liver and congestive heart failure, and there were subsequent reports substantiating this association. However, it is our impression and the finding of others that congestive heart failure is distinctly less common than abdominal mass or hepatomegaly as the presenting sign in infantile hemangioendothelioma. Congestive heart failure is rarely a feature of cavernous hemangioma. Because of the errors in terminology and questions regarding clinical presentation, a radiologic-pathologic-clinical correlation study of infantile hemangioendothelioma and review of the literature was undertaken.

  4. Pathophysiology, epidemiology, classification and treatment options for polycystic liver diseases

    PubMed Central

    Abu-Wasel, Bassam; Walsh, Caolan; Keough, Valerie; Molinari, Michele

    2013-01-01

    Polycystic liver diseases (PLD) represent a group of genetic disorders in which cysts occur in the liver (autosomal dominant polycystic liver disease) or in combination with cysts in the kidneys (autosomal dominant polycystic kidney disease). Regardless of the genetic mutations, the natural history of these disorders is alike. The natural history of PLD is characterized by a continuous increase in the volume and the number of cysts. Both genders are affected; however, women have a higher prevalence. Most patients with PLD are asymptomatic and can be managed conservatively. Severe symptoms can affect 20% of patients who develop massive hepatomegaly with compression of the surrounding organs. Rrarely, patients with PLD suffer from acute complications caused by the torsion of hepatic cysts, intraluminal cystic hemorrhage and infections. The most common methods for the diagnosis of PLD are cross sectional imaging studies. Abdominal ultrasound and computerized tomography are the two most frequently used investigations. Magnetic resonance imaging is more sensitive and specific, and it is a valuable test for patients with intravenous contrast allergies or renal dysfunction. Different treatment modalities are available to physicians caring for these patients. Medical treatment has been ineffective. Percutaneous sclerotherapy, trans-arterial embolization, cyst fenestration, hepatic resection and liver transplantation are indicated to specific groups of patients and have to be tailored according to the extent of disease. This review outlines the current knowledge of the pathophysiology, clinical course, diagnosis and treatment strategies of PLD. PMID:24124322

  5. Fatal systemic toxoplasmosis in Valley quail (Callipepla californica)

    PubMed Central

    Casagrande, Renata A.; Pena, Hilda F.J.; Cabral, Aline D.; Rolim, Veronica M.; de Oliveira, Luiz G.S.; Boabaid, Fabiana M.; Wouters, Angelica T.B.; Wouters, Flademir; Cruz, Cláudio E.F.; Driemeier, David

    2015-01-01

    An adult, captive raised male Valley quail (Callipepla californica) acquired by a southern Brazilian aviary suddenly showed severe apathy, dyspnea and diarrhea, and died 18 hours after the onset of illness. At necropsy, pale muscles and whitish areas in the heart, splenomegaly, hepatomegaly, and consolidated red lungs were observed. Histological findings were mainly mononuclear inflammation with necrosis of liver, heart, spleen, bone marrow and lung. There were large numbers of Toxoplasma gondii tachyzoitesorganisms in the liver, heart, spleen, bone marrow, lungs, trachea, kidneys, adrenal glands, testes, intestines, and pancreas. These organisms were seen free in the organs' stroma or within macrophages and stained positively with polyclonal antiserum to T. gondii. Genomic DNA was extracted from the tissues and PCR was used to target the B1 gene of T. gondii. The genotypic characterization by PCR-RFLP with 11 markers (SAG1, SAG2 and alt. SAG2, SAG3, BTUB, GRA6, c22-8, c29-2, L358, PK1, Apico and CS3) revealed the ToxoDB-PCR-RFLP #87 genotype, the same as previously identified in a backyard chicken (TgCkBr156) in Rio Grande do Sul, Brazil. PMID:26101744

  6. Hepar lobatum carcinomatosum revealing an occult metastatic lobular carcinoma of the breast.

    PubMed

    Graber, Ivan; Dumortier, Jérôme; Poncet, Gilles; Queneau, Pierre-Edouard; Mathevet, Patrice; Scoazec, Jean-Yves

    2010-12-01

    Hepar lobatum carcinomatosum is an unusual cause of chronic liver failure, usually maskerading as cirrhosis. The pathogenesis of this syndrome is unclear. We report a case of liver failure revealing an occult lobular carcinoma of the breast, which offers the opportunity to gain further insight into the mechanisms of this rare cause of chronic liver disease. A 57-year-old woman, without history of malignancy, presented with hepatomegaly, ascites and altered liver tests (serum transaminase activity >5 N and hyperbilirubinemia). The transjugular liver biopsy performed at diagnosis showed an extensive fibrosis, containing scattered tumor cells, typical of metastatic lobular carcinoma of the breast. Four months later, after discovery of a rectal adenocarcinoma, a laparoscopy was performed; peritoneal carcinomatosis was discovered. A surgical biopsy of the liver was taken during the procedure: it showed histological features suggestive of chronic Budd-Chiari syndrome, with venocentric fibrosis and reversed lobulation. Intraluminal invasion of small hepatic veins and sinusoidal obstruction by neoplastic cells were observed. A small focus of lobular carcinoma was eventually discovered in the left mammary gland. The present case report expands the spectrum of clinical presentations associated with hepar lobatum carcinomatosum and points out to the importance of vascular injury in the pathogenesis of this rare cause of chronic liver disease.

  7. Disseminated penicilliosis due to Penicillium chrysogenum in a pediatric patient with Henoch-Schönlein syndrome.

    PubMed

    Avilés-Robles, Martha; Gómez-Ponce, Carlos; Reséndiz-Sánchez, Jesús; Rodríguez-Tovar, Aída Verónica; Ceballos-Bocanegra, Adrián; Martínez-Rivera, Ángeles

    2016-10-01

    A case of disseminated infection caused by Penicillium chrysogenum in a 10-year-old boy with a history of Henoch-Schönlein purpura and proliferative glomerulonephritis, treated with immunosuppressors, is reported herein. The patient had a clinical picture of 2 weeks of fever that did not respond to treatment with broad-spectrum antibiotics and amphotericin B. Computed tomography imaging showed diffuse cotton-like infiltrates in the lungs, hepatomegaly, mesenteric lymphadenopathy, and multiple well-defined round hypodense lesions in the spleen. His treatment was changed to caspofungin, followed by voriconazole. One month later, a splenic biopsy revealed hyaline septate hyphae of >1μm in diameter. Fungal growth was negative. However, molecular analysis showed 99% identity with P. chrysogenum. A therapeutic splenectomy was performed, and treatment was changed to amphotericin B lipid complex and caspofungin. The patient completed 2 months of treatment with resolution of the infection. P. chrysogenum is a rare causative agent of invasive fungal infections in immunocompromised patients, and its diagnosis is necessary to initiate the appropriate antifungal treatment.

  8. Rapid height growth after liver transplantation in adulthood.

    PubMed

    Szili, Balázs; Görög, Dénes; Gerlei, Zsuzsanna; Győri, Gabriella; Lakatos, Péter; Takács, István

    2016-08-01

    Glycogen storage disease Ib is a rare, inherited metabolic disorder caused by glucose-6-phosphatase translocase deficiency. Its main symptoms are hypoglycemia, hyperlipidemia, neutropenia, hepatomegaly, liver adenomas and short stature. The exact mechanism of short stature in this disease is unclear, the most feasible possibility is that it is caused by impairment of growth-hormone and insulin-like growth factor I axis. Here we report the case of a patient who showed typical symptoms of glycogen storage disease Ib since his infancy, his height being under 1 percentile since then. Later-developed hypothyroidism and hypogonadism have also contributed to his short stature. Hypothyroidism was treated but sexual steroid substitution was not started because of an increased risk of hepatic adenomas. Because he developed hepatic adenoma at the age of 23, he had to undergo orthotopic liver transplantation. At the time of the transplantation his height was 128cm. The transplantation was followed by rapid height growth; our patient's height reached 160.3cm 62months after transplantation. We observed that while his IGF-I level increased, his GH level remained unchanged. During the post-transplantation period we ensured adequate calcium and vitamin D supplementation, leaving hormonal substitution unchanged. According to our knowledge, this is the first report of a rapid height growth as big as 32cm, of an individual over the age of 20, not related to endocrine treatment but liver transplantation. Copyright © 2016 Elsevier Ltd. All rights reserved.

  9. Senescent case of cholesterol ester storage disease that progressed to liver cirrhosis with a novel mutation (N250H) of lysosomal acid lipase gene.

    PubMed

    Kojima, Seiichiro; Watanabe, Norihito; Takashimizu, Shinji; Kagawa, Tatehiro; Shiraishi, Koichi; Koizumi, Jun; Hirabayashi, Ken-Ichi; Ohkubo, Tomoichi; Kamiguchi, Hiroshi; Tsuda, Michio; Mine, Tetsuya

    2013-12-01

    The patient, a 69-year-old man, had a chief complaint of hepatomegaly. The liver was palpated four fingerbreadths below the costal margin, and the spleen was three fingerbreadths below the costal margin. There were no other abnormal findings. Laparoscopy showed that the liver resembled an orange-yellow crayon in appearance and was nodular. The pathological findings of the liver biopsy tissue were consistent with liver cirrhosis. Inside the fibrous septum was an apparent aggregation of enlarged macrophages that phagocytosed lipid components, as well as enlarged Kupffer cells that phagocytosed lipid droplets. Electron microscopy showed the lipid droplets to have a moth-eaten appearance. Using monocytes extracted from the peripheral blood, acid lipase activity was measured by fluorescence spectrometry using 4-methylumbelliferone palmitate as a substrate. This patient's human lysosomal acid lipase activity was 0.020 nM/min per 10(6)  cells, corresponding to 5.9% of that in healthy subjects (0.332 ± 0.066 nM/min per 10(6)  cells). Cholesterol ester storage disease was therefore diagnosed. The acid lipase A base sequence obtained from leukocytes by direct sequencing was compared with a library. This patient had a point mutation of N250H/N250H in exon 7, a novel gene abnormality that has not previously been reported.

  10. A pelagic outbreak of avian cholera in North American gulls: Scavenging as a primary mechanism for transmission?

    USGS Publications Warehouse

    Wille, Michelle; McBurney, Scott; Robertson, Gregory J.; Wilhelm, Sabine; Blehert, David; Soos, Catherine; Dunphy, Ron; Whitney, Hugh

    2016-01-01

    Avian cholera, caused by the bacterium Pasteurella multocida, is an endemic disease globally, often causing annual epizootics in North American wild bird populations with thousands of mortalities. From December 2006 to March 2007, an avian cholera outbreak caused mortality in marine birds off the coast of Atlantic Canada, largely centered 300–400 km off the coast of the island of Newfoundland. Scavenging gulls (Larus spp.) were the primary species detected; however, mortality was also identified in Black-legged Kittiwakes (Rissa tridactyla) and one Common Raven (Corvus corax), a nonmarine species. The most common gross necropsy findings in the birds with confirmed avian cholera were acute fibrinous and necrotizing lesions affecting the spleen, air sacs, and pericardium, and nonspecific hepatomegaly and splenomegaly. The etiologic agent, P. multocida serotype 1, was recovered from 77 of 136 carcasses examined, and confirmed or probable avian cholera was diagnosed in 85 cases. Mortality observed in scavenging gull species was disproportionately high relative to their abundance, particularly when compared to nonscavenging species. The presence of feather shafts in the ventricular lumen of the majority of larid carcasses diagnosed with avian cholera suggests scavenging of birds that died from avian cholera as a major mode of transmission. This documentation of an outbreak of avian cholera in a North American pelagic environment affecting primarily scavenging gulls indicates that offshore marine environments may be a component of avian cholera dynamics.

  11. Macrophage activation syndrome in a patient with systemic onset of the juvenile idiopathic arthritis.

    PubMed

    Jain, Deepak; Aggarwal, Hari K; Rao, Avinash; Mittal, Anshul; Jain, Promil

    2016-01-01

    Systemic onset juvenile idiopathic arthritis (sJIA) is defined as arthritis affecting one or more joint usually in the juvenile age group (< 16 years of age) with or preceded by fever of at least 2 weeks duration that is documented to be daily ("quotidian") for at least 3 days which may be associated with evanescent (non-fixed) erythematous rash or generalized lymph node enlargement or hepatomegaly/splenomegaly/both or serositis. Macrophage activation syndrome (MAS) is a life-threatening complication of sJIA marked by sudden onset of non-remitting high fever, profound depression in all three blood cell lines (i.e. leukopenia, anemia, and thrombocytopenia), hepatosplenomegaly, lymphadenopathy, and elevated serum liver enzyme levels. In children with systemic juvenile idiopathic arthritis, the clinical picture may mimic sepsis or an exacerbation of the underlying disease. We report a case of a 16-year-old female patient presenting with high grade fever with joint pains and generalized weakness which proved to be systemic onset juvenile idiopathic arthritis with macrophage activation syndrome after ruling out all other differential diagnoses and responded well to intravenous steroids.

  12. Self-healing juvenile cutaneous mucinosis.

    PubMed

    Kołodziejczyk, Beata; Gazda, Agnieszka; Hernik, Elżbieta; Szczygielska, Izabela; Rutkowska-Sak, Lidia; Koprowska, Marta Legatowicz

    2017-01-01

    Girl, aged 4 years old, began the disease with pain of the lower extremities, fever up to 38°C and signs of upper airway infection. Then the patient developed oedema and redness of the whole face, thickened skin, subcutaneous nodular foldings of the frontal, occipital, cervical and axillary regions, extensor areas of the joints; fine, hard whitish nodules in the frontal region and over interphalangeal joints of the hands, pruritus; oedemas of the ankles, knees and joints of the hands, cervical lymphadenopathy and hepatomegaly. Blood tests at the moment of the diagnosis revealed elevation of markers of inflammation as ESR and CRP, leukocytosis, thrombocytosis, hypoalbuminemia, and hyper-alfa-2-globulinemia. Histopathological examination of the skin biopsy specimen and subcutaneous tissue revealed myxoid subcutaneous tissue located under the dermis and a section consisting of myxoid mesenchymal tissue with inflammatory infiltration by histiocytic cells. The presence of acid mucopolysaccharides in fields of the myxoid tissue was also observed. The self-healing juvenile cutaneous mucinosis (SJCM) was diagnosed.

  13. A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa

    PubMed Central

    Zimmermann, Anca; Rossmann, Heidi; Bucerzan, Simona; Grigorescu-Sido, Paula

    2016-01-01

    Background. Glycogen storage disease type III (GSDIII) is a rare metabolic disorder with autosomal recessive inheritance, caused by deficiency of the glycogen debranching enzyme. There is a high phenotypic variability due to different mutations in the AGL gene. Methods and Results. We describe a 2.3-year-old boy from a nonconsanguineous Romanian family, who presented with severe hepatomegaly with fibrosis, mild muscle weakness, cardiomyopathy, ketotic fasting hypoglycemia, increased transaminases, creatine phosphokinase, and combined hyperlipoproteinemia. GSD type IIIa was suspected. Accordingly, genomic DNA of the index patient was analyzed by next generation sequencing of the AGL gene. For confirmation of the two mutations found, genetic analysis of the parents and grandparents was also performed. The patient was compound heterozygous for the novel mutation c.3235C>T, p.Gln1079⁎ (exon 24) and the known mutation c.1589C>G, p.Ser530⁎ (exon 12). c.3235 >T, p.Gln1079⁎ was inherited from the father, who inherited it from his mother. c.1589C>G, p.Ser530⁎ was inherited from the mother, who inherited it from her father. Conclusion. We report the first genetically confirmed case of a Romanian patient with GSDIIIa. We detected a compound heterozygous genotype with a novel mutation, in the context of a severe hepatopathy and an early onset of cardiomyopathy. PMID:26885414

  14. Histoplasmosis: a new endemic fungal infection in China? Review and analysis of cases.

    PubMed

    Pan, Bo; Chen, Min; Pan, Weihua; Liao, Wanqing

    2013-05-01

    Histoplasmosis occurs in specific endemic areas, including the mid-western United States, Africa and most of Latin America. Sporadic cases have also been reported in China. The aim of this study was to summarise the epidemiological and clinical data of histoplasmosis in China. We searched the PubMed, CBMdisk and CNKI databases to identify publications related to histoplasmosis in China. Case reports/series on patients with histoplasmosis were included. A comprehensive literature review identified additional cases. The relevant material was evaluated and reviewed. Overall, 300 cases of histoplasmosis were reported in China from 1990 to 2011, and 75% were from regions through which the Yangtze River flows. Most of the patients were autochthonous infections. Of these, 43 patients had pulmonary histoplasmosis and 257 patients had disseminated histoplasmosis. Common underlying diseases included HIV infection, diabetes mellitus and liver diseases. Fever was the most frequently reported clinical feature in disseminated histoplasmosis, followed by splenomegaly and hepatomegaly. Cases of histoplasmosis had a prominent geographical distribution in China. Histoplasmosis should be considered in the diagnosis of patients with relevant symptoms and a history of travel to or residence in these areas.

  15. Impaired de Novo Choline Synthesis Explains Why Phosphatidylethanolamine N-Methyltransferase-deficient Mice Are Protected from Diet-induced Obesity*

    PubMed Central

    Jacobs, René L.; Zhao, Yang; Koonen, Debby P. Y.; Sletten, Torunn; Su, Brian; Lingrell, Susanne; Cao, Guoqing; Peake, David A.; Kuo, Ming-Shang; Proctor, Spencer D.; Kennedy, Brian P.; Dyck, Jason R. B.; Vance, Dennis E.

    2010-01-01

    Phosphatidylcholine (PC) is synthesized from choline via the CDP-choline pathway. Liver cells can also synthesize PC via the sequential methylation of phosphatidylethanolamine, catalyzed by phosphatidylethanolamine N-methyltransferase (PEMT). The current study investigates whether or not hepatic PC biosynthesis is linked to diet-induced obesity. Pemt+/+ mice fed a high fat diet for 10 weeks increased in body mass by 60% and displayed insulin resistance, whereas Pemt−/− mice did not. Compared with Pemt+/+ mice, Pemt−/− mice had increased energy expenditure and maintained normal peripheral insulin sensitivity; however, they developed hepatomegaly and steatosis. In contrast, mice with impaired biosynthesis of PC via the CDP-choline pathway in liver became obese when fed a high fat diet. We, therefore, hypothesized that insufficient choline, rather than decreased hepatic phosphatidylcholine, was responsible for the lack of weight gain in Pemt−/− mice despite the presence of 1.3 g of choline/kg high fat diet. Supplementation with an additional 2.7 g of choline (but not betaine)/kg of diet normalized energy metabolism, weight gain, and insulin resistance in high fat diet-fed Pemt−/− mice. Furthermore, Pemt+/+ mice that were fed a choline-deficient diet had increased oxygen consumption, had improved glucose tolerance, and gained less weight. Thus, de novo synthesis of choline via PEMT has a previously unappreciated role in regulating whole body energy metabolism. PMID:20452975

  16. Current biochemical studies of nonalcoholic fatty liver disease and nonalcoholic steatohepatitis suggest a new therapeutic approach.

    PubMed

    Hookman, Perry; Barkin, Jamie S

    2003-09-01

    The study population in this report by Lin et al. was ob/ob mice that have an inherited genetic deficiency of the appetite-suppressing hormone leptin. These mice develop hyperinsulinemia, insulin resistance, and fatty livers. Compared with their lean littermates and wild-type C57BL-6 mice, ob/ob mice have hepatomegaly. In this study, the authors compared three different groups of adult mice (aged 8-10 wk), including male ob/ob C57BL-6 mice, their lean littermates, and wild-type C57BL-6 mice of the same age and sex. The primary purpose of this study was to test the efficacy of metformin for treatment of fatty liver disease in obese, ob/ob mice that develop hyperinsulinemia or insulin resistance and fatty livers. Metformin therapy was found to eliminate fatty liver disease in this model. The potential mechanisms of the action of metformin were the inhibition of hepatic tumor necrosis factor (TNF)alpha and several TNF-inducible responses, which are likely to promote hepatic steatosis and necrosis. In these experiments, ob/ob mice were divided into three treatment groups. Group 1 consisted of eight mice that were treated with metformin and permitted to consume a nutritiously replete liquid mouse diet ad libitum. Mice in group 2 (n = 8) did not receive metformin but were pair-fed the same volume of liquid diet that the mice in the metformin-treated group had consumed on the previous day. Obese ob/ob mice in group 3 (n = 4) and lean mice received no metformin, as with the mice in group 2, but were permitted to consume the liquid diet ad libitum. Liquid diet was given to facilitate accurate daily comparison of food intake among the various treatment groups. All mice were weighed at the beginning of the study and weekly thereafter until killed and then sera, fat, and liver tissues were collected. Tissues were either fixed in buffered formalin and processed from the deceased mice for histology or snap frozen in liquid nitrogen and stored until RNA and proteins were isolated

  17. Factors Associated with Dengue Shock Syndrome: A Systematic Review and Meta-Analysis

    PubMed Central

    Thuy, Dinh Ha Duy; Kikuchi, Mihoko; Hien, Tran Tinh; Zamora, Javier; Hirayama, Kenji

    2013-01-01

    Background The pathogenesis of dengue shock syndrome (DSS, grade 3 and 4) is not yet completely understood. Several factors are reportedly associated with DSS, a more severe form of dengue infection that reportedly causes 50 times higher mortality compared to that of dengue patients without DSS. However, the results from these reports remain inconclusive. To better understand the epidemiology, clinical manifestation, and pathogenesis of DSS for development of new therapy, we systematically reviewed and performed a meta-analysis of relevant studies that reported factors in both DSS and dengue hemorrhagic fever (DHF, grade 1 and 2) patients. Methods and Findings PubMed, EMBASE, Scopus, Google Scholar, Dengue Bulletin, Cochrane Library, Virtual Health Library, and a manual search of reference lists of articles published before September 2010 were used to retrieve relevant studies. A meta-analysis using fixed- or random-effects models was used to calculate pooled odds ratios (OR) or event rate with corresponding 95% confidence intervals. Assessment of heterogeneity and publication bias, meta-regression analysis, subgroup analysis, sensitivity analysis, and analysis of factor-specific relationships were further performed. There were 198 studies constituting 203 data sets that met our eligibility criteria. Our meta-regression analysis showed a sustained reduction of DSS/dengue hemorrhagic fever (DHF) ratio over a period of 40 years in Southeast Asia, especially in Thailand. The meta-analysis revealed that age, female sex, neurological signs, nausea/vomiting, abdominal pain, gastrointestinal bleeding, hemoconcentration, ascites, pleural effusion, hypoalbuminemia, hypoproteinemia, hepatomegaly, levels of alanine transaminase and aspartate transaminase, thrombocytopenia, prothrombin time, activated partial thromboplastin time, fibrinogen level, primary/secondary infection, and dengue virus serotype-2 were significantly associated with DSS when pooling all original relevant

  18. Multiple genes exhibit phenobarbital-induced constitutive active/androstane receptor-mediated DNA methylation changes during liver tumorigenesis and in liver tumors.

    PubMed

    Phillips, Jennifer M; Goodman, Jay I

    2009-04-01

    The constitutive active/androstane receptor (CAR) mediates responses to the nongenotoxic rodent liver tumor promoter phenobarbital (PB), including certain gene expression changes, hepatomegaly, and tumor formation. Aberrant DNA methylation represents epigenetic events that can play multiple roles in tumorigenesis. Previously, 146 unique PB-induced regions of altered DNA methylation (RAMs) were observed in liver tumor-susceptible CAR wild-type (WT) mice (in 23 weeks, precancerous tissue, and 32 weeks, tumor tissue), as compared to the resistant knockout (KO). We believe that at least some of these might be key for tumorigenesis. In the current study, cloning and annotation of a subset (82%) of the unique RAMs revealed 47 genes exhibiting altered methylation; 17 are already implicated in cancer or related processes and, thus, we have identified 30 "new" candidate genes that might be involved in carcinogenesis due to an epigenetic alteration. These may contribute to tumor development through their involvement in angiogenesis, apoptosis, epithelial-mesenchymal cell transition, growth/survival, and invasion/migration/metastasis. We have also, previously, discerned unique PB-elicited RAMs in liver tumor-prone B6C3F1 mice, as compared to the relatively resistant C57BL/6 strain, at 2 or 4 weeks, and identified 51 genes exhibiting altered methylation. Importantly, 11 of these genes were identified from identical, unique RAMs discerned in both the sensitive B6C3F1 and CAR WT mice, thus representing an initial, potential candidate "fingerprint" which might serve as a biomarker for PB-induced tumorigenesis. These two studies reveal "new" genes whose epigenetic statuses changed uniquely in liver tumor-susceptible mice (B6C3F1 and CAR WT), as compared to their resistant counterparts (C57BL/6 and CAR KO, respectively), within a continuum of PB-induced tumorigenesis.

  19. Downregulation of SIRT1 signaling underlies hepatic autophagy impairment in glycogen storage disease type Ia.

    PubMed

    Cho, Jun-Ho; Kim, Goo-Young; Pan, Chi-Jiunn; Anduaga, Javier; Choi, Eui-Ju; Mansfield, Brian C; Chou, Janice Y

    2017-05-01

    A deficiency in glucose-6-phosphatase-α (G6Pase-α) in glycogen storage disease type Ia (GSD-Ia) leads to impaired glucose homeostasis and metabolic manifestations including hepatomegaly caused by increased glycogen and neutral fat accumulation. A recent report showed that G6Pase-α deficiency causes impairment in autophagy, a recycling process important for cellular metabolism. However, the molecular mechanism underlying defective autophagy is unclear. Here we show that in mice, liver-specific knockout of G6Pase-α (L-G6pc-/-) leads to downregulation of sirtuin 1 (SIRT1) signaling that activates autophagy via deacetylation of autophagy-related (ATG) proteins and forkhead box O (FoxO) family of transcriptional factors which transactivate autophagy genes. Consistently, defective autophagy in G6Pase-α-deficient liver is characterized by attenuated expressions of autophagy components, increased acetylation of ATG5 and ATG7, decreased conjugation of ATG5 and ATG12, and reduced autophagic flux. We further show that hepatic G6Pase-α deficiency results in activation of carbohydrate response element-binding protein, a lipogenic transcription factor, increased expression of peroxisome proliferator-activated receptor-γ (PPAR-γ), a lipid regulator, and suppressed expression of PPAR-α, a master regulator of fatty acid β-oxidation, all contributing to hepatic steatosis and downregulation of SIRT1 expression. An adenovirus vector-mediated increase in hepatic SIRT1 expression corrects autophagy defects but does not rectify metabolic abnormalities associated with G6Pase-α deficiency. Importantly, a recombinant adeno-associated virus (rAAV) vector-mediated restoration of hepatic G6Pase-α expression corrects metabolic abnormalities, restores SIRT1-FoxO signaling, and normalizes defective autophagy. Taken together, these data show that hepatic G6Pase-α deficiency-mediated down-regulation of SIRT1 signaling underlies defective hepatic autophagy in GSD-Ia.

  20. Glycogen storage disease type 1 and diabetes: learning by comparing and contrasting the two disorders.

    PubMed

    Rajas, F; Labrune, P; Mithieux, G

    2013-10-01

    Glycogen storage disease type 1 (GSD1) and diabetes may look at first like totally opposite disorders, as diabetes is characterized by uncontrolled hyperglycaemia, whereas GSD1 is characterized by severe fasting hypoglycaemia. Diabetes is due to a failure to suppress endogenous glucose production (EGP) in the postprandial state because of either a lack of insulin or insulin resistance. In contrast, GSD1 is characterized by a lack of EGP. However, both diseases share remarkably similar patterns in terms of pathophysiology such as the long-term progression of renal dysfunction and hepatic steatosis leading to renal failure and the development of hepatic tumours, respectively. Thus, much may be learned from considering the similarities between GSD1 and diabetes, especially in the metabolic pathways underlying nephropathy and fatty liver, and perhaps even more from their differences. In this review, the differences between diabetes and GSD1 are first highlighted, as both are characterized by alterations in EGP. The molecular pathways involved in liver pathologies, including steatosis, hepatomegaly (glycogenic hepatopathy) and the development of liver tumours are also compared. These pathologies are mainly due to the accumulation of lipids and/or glycogen in hepatocytes. Finally, the similar pathways leading to nephropathy in both diabetic and GSD1 patients are described. In conclusion, comparisons of these pathologies should lead to a better understanding of the crucial role of EGP in the control of glucose and energy homoeostasis. Moreover, it may highlight similar therapeutic targets for the two disorders. Thus, this review suggests that the treatment of adult patients with either GSD1 or diabetes could be carried out by the same specialists-diabetologists. Copyright © 2013 Elsevier Masson SAS. All rights reserved.