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Sample records for hepatomegaly

  1. Transient hepatomegaly and hypoglycemia. A consequence of malicious insulin administration.

    PubMed

    Dershewitz, R; Vestal, B; Maclaren, N K; Cornblath, M

    1976-09-01

    On two occasions, a 3 1/2-year-old black girl had severe hypoglycemia associated with transient hepatomegaly. The plasma insulin level during the second hypoglycemic episode was excessive and led to a diagnosis of malicious insulin administration. We suggest that plasma be obtained for insulin determination in children with hypoglycemia, and that transient hepatomegaly may be a helpful sign in cases of insulin overdose. PMID:961662

  2. Congestive Hepatomegaly

    MedlinePlus

    ... Search Drug Interactions Pill Identifier Commonly searched drugs Aspirin Metformin Warfarin Tramadol Lactulose Ranitidine News & Commentary Recent News Cancer Caregivers Face Difficult Demands Child Health Improves When ...

  3. 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

  4. 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. PMID:21645505

  5. 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. PMID:26770928

  6. 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

  7. Defective adipose tissue development associated with hepatomegaly in cathepsin E-deficient mice fed a high-fat diet.

    PubMed

    Kadowaki, Tomoko; Kido, Mizuho A; Hatakeyama, Junko; Okamoto, Kuniaki; Tsukuba, Takayuki; Yamamoto, Kenji

    2014-03-28

    Cathepsin E is an intracellular aspartic proteinase, which is predominantly distributed in immune-related and epithelial cells. However, the role of the enzyme in adipose tissues remains unknown. In this study, we investigated the characteristics of cathepsin E-deficient (CatE(-/-)) mice fed a high-fat diet (HFD), as a mouse model of obesity. HFD-fed CatE(-/-) mice displayed reduced body weight gain and defective development of white adipose tissue (WAT) and brown adipose tissue (BAT), compared with HFD-fed wild-type mice. Moreover, fat-induced CatE(-/-) mice showed abnormal lipid accumulation in non-adipose tissues characterized by hepatomegaly, which is probably due to defective adipose tissue development. Detailed pathological and biochemical analyses showed that hepatomegaly was accompanied by hepatic steatosis and hypercholesterolemia in HFD-induced CatE(-/-) mice. In fat-induced CatE(-/-) mice, the number of macrophages infiltrating into WAT was significantly lower than in fat-induced wild-type mice. Thus, the impaired adipose tissue development in HFD-induced CatE(-/-) mice was probably due to reduced infiltration of macrophages and may lead to hepatomegaly accompanied by hepatic steatosis and hypercholesterolemia. PMID:24583126

  8. 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. PMID:24569609

  9. Correlation of intrahepatic pressure with collagen in the Disse space and hepatomegaly in humans and in the rat.

    PubMed

    Orrego, H; Blendis, L M; Crossley, I R; Medline, A; Macdonald, A; Ritchie, S; Israel, Y

    1981-03-01

    In 70 alcoholic patients the amount of collagen in the space of Disse was compared, using an electron microscopic graded score, to the height of the intrahepatic pressure. A highly significant correlation was found between the amount of collagen and intrahepatic pressure in the group as a whole (r = 0.84; p < 10(-6)), as well as in subgroups of 30 alcoholic patients with normal livers or steatosis (r = 0.83; p < 10(-6)), 9 patients with alcoholic hepatitis (r = 0.81; p < 0.01), and 31 with cirrhosis (r = 0.86; p < 10(-6)). A nonparametric correlational analysis for the complete group also showed a significant relationship (rho = 0.85; p < 10(-6)) between collagen scores and intrahepatic pressure. In 60 patients hepatocyte surface area was measured in the biopsies. In these, hepatocyte surface area significantly correlated with intrahepatic pressure (r = 0.68; p < 10(-7)). No correlation was found between intrahepatic pressure and fat, alcoholic hyalin, or terminal hepatic vein sclerosis. Only with necrosis (r = 0.38; p < 0.001) and inflammation (r = 0.29; p < 0.05) was there a significant relationship with intrahepatic pressure. Chronic ethanol administration for 4 wk in liquid diets to young Wistar rats produced a 50% hepatomegaly due to an increase in hepatocyte size. Intrahepatic pressure in the rats receiving alcohol (19.3 +/- 2.3 mmHg) was significantly higher than in the controls on sucrose (10.4 +/- 0.9 mmHg) (p < 0.01). A highly significant correlation was found between hepatocyte surface area and intrahepatic pressure (r = 0.70; p < 0.005). There was no increase in collagen in the Disse space in these animals. Therefore, hepatomegaly in the absence of an increase in collagen in the Disse space may result in increased intrahepatic pressure. These studies may indicate a sequence of events: hepatomegaly, portal hypertension, and collagenization in the Disse space, which could occur in alcoholic liver disease. PMID:7450445

  10. 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

  11. 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. PMID:20388953

  12. 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

  13. Glycogenic Hepatopathy in Type 1 Diabetes Mellitus.

    PubMed

    Atmaca, Murat; Ucler, Rifki; Kartal, Mehmet; Seven, Ismet; Alay, Murat; Bayram, Irfan; Olmez, Sehmus

    2015-01-01

    Glycogenic hepatopathy is a rare cause of high transaminase levels in type 1 diabetes mellitus. This condition, characterized by elevated liver enzymes and hepatomegaly, is caused by irreversible and excessive accumulation of glycogen in hepatocytes. This is a case report on a 19-year-old male case, diagnosed with glycogenic hepatopathy. After the diagnosis was documented by liver biopsy, the case was put on glycemic control which led to significant decline in hepatomegaly and liver enzymes. It was emphasized that, in type 1 diabetes mellitus cases, hepatopathy should also be considered in the differential diagnoses of elevated liver enzyme and hepatomegaly. PMID:26347835

  14. Glycogenic Hepatopathy in Type 1 Diabetes Mellitus

    PubMed Central

    Atmaca, Murat; Ucler, Rifki; Kartal, Mehmet; Seven, Ismet; Alay, Murat; Bayram, Irfan; Olmez, Sehmus

    2015-01-01

    Glycogenic hepatopathy is a rare cause of high transaminase levels in type 1 diabetes mellitus. This condition, characterized by elevated liver enzymes and hepatomegaly, is caused by irreversible and excessive accumulation of glycogen in hepatocytes. This is a case report on a 19-year-old male case, diagnosed with glycogenic hepatopathy. After the diagnosis was documented by liver biopsy, the case was put on glycemic control which led to significant decline in hepatomegaly and liver enzymes. It was emphasized that, in type 1 diabetes mellitus cases, hepatopathy should also be considered in the differential diagnoses of elevated liver enzyme and hepatomegaly. PMID:26347835

  15. 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,...

  16. 20 CFR Appendix to Subpart D of... - Unknown Title

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 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,...

  17. 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...

  18. Different morphologic aspects and clinical features in massive hepatic amyloidosis.

    PubMed

    Melato, M; Manconi, R; Magris, D; Morassi, P; Benussi, D G; Tiribelli, C

    1984-01-01

    4 cases of massive hepatic amyloidosis are reported with special reference to their clinical profiles and histologic features. On the basis of these data, two different clinical and histologic courses of the disease can be distinguished. 2 patients showed marked hepatomegaly without cholestasis, whereas in the other 2 the clinical picture was characterized by much less pronounced hepatomegaly, but by severe and progressive intrahepatic cholestasis. The time course of the disease seems to be different in the two forms, the cholestatic form being more rapidly fatal than the other. PMID:6745505

  19. Case report on an infant presenting with hypoglycemia, and milky serum

    PubMed Central

    Gupta, Yogesh Kumar; Prasad, Anushre; Kini, Pushpa; Naik, Prashant; Choprra, Deepti; Prabhu, Krishnananda

    2012-01-01

    A 4-month-old male baby who presented in a moribund condition with seizures was found to have hepatomegaly, hypoglycemia and milky serum. Serum triglycerides were markedly elevated (3 168 mg/dL) with cholesterol being 257 mg/dL and high density lipoprotein levels were low (19 mg/dL). The possibility of glycogen storage disease type I was considered in the diagnosis. Infants with glycogen storage disease type I may present like sepsis. The association of hepatomegaly, hypoglycemia and abnormal lipid profile stated above should alert the physician to consider glycogen storage disease type I in the diagnosis. PMID:23569924

  20. 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

  1. Tyrosinemia Typel: A case report

    PubMed Central

    Rashad, Mohmood M.; Nassar, Carmen

    2011-01-01

    Tyrosinemia type 1 is an inherited metabolic disorder attributable to deficiency of fumarylacetoacetate hydrolase enzyme. Here we report an eight month-old male Saudi infant who presented with jaundice, fever, and disturbed level of consciousness accompanied by abdominal distension, hepatomegaly and ascites with features suggestive of rickets. The diagnosis of tyrosinemia typ 1was confirmed based on clinical and biochemical findings.

  2. 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...

  3. Genetics Home Reference: glycogen storage disease type IX

    MedlinePlus

    ... cellular energy is a simple sugar called glucose. Glucose is stored in muscle and liver cells in a form called glycogen. Glycogen can ... result, glycogen accumulates in and damages cells, and glucose is not available for ... in the liver leads to hepatomegaly, and the liver's inability to ...

  4. 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.

  5. Novel Mutation in a Patient with Cholesterol Ester Storage Disease

    PubMed Central

    Lin, Patrick; Raikar, Sheela; Jimenez, Jennifer; Furuya, Katryn N.

    2015-01-01

    Cholesterol ester storage disease (CESD) is a chronic liver disease that typically presents with hepatomegaly. It is characterized by hypercholesterolemia, hypertriglyceridemia, high-density lipoprotein deficiency, and abnormal lipid deposition within multiple organs. It is an autosomal recessive disease that is due to a deficiency in lysosomal acid lipase (LAL) activity, which is coded by the lysosomal acid lipase gene (LIPA). We describe the case of a 5-year-old south Asian female incidentally found to have hepatomegaly, and subsequent workup confirmed the diagnosis of CESD. DNA sequencing confirmed the presence of a novel hepatic mutation. It is a four-nucleotide deletion c.57_60delTGAG in exon 2 of the LIPA gene. This mutation is predicted to result in a premature translation stop downstream of the deletion (p.E20fs) and, therefore, is felt to be a disease-causing mutation. PMID:25722898

  6. 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.

  7. Living donor liver transplantation in polycystic liver disease.

    PubMed

    Mekeel, Kristin L; Moss, Adyr A; Reddy, Kunam S; Douglas, David D; Vargas, Hugo E; Carey, Elizabeth J; Byrne, Thomas J; Harrison, M E; Rakela, Jorge; Mulligan, David C

    2008-05-01

    In the current Model for End-Stage Liver Disease system, patients with polycystic liver disease (PCLD) who have a poor quality of life secondary to their massive hepatomegaly are no longer competitive for a deceased donor liver transplant if their liver function is well preserved. Traditionally, a caval resection has been advocated in these patients because of the difficulty of the hepatectomy with hepatomegaly, which makes living donation impossible. This series looks at 3 patients who underwent a caval sparing hepatectomy and subsequent living donor liver transplantation (LDLT) for PCLD. Graft and patient survival was 100%, and there were few complications in either donors or recipients. LDLT is an ideal option for patients with PCLD and preserved liver function but poor quality of life. PMID:18433036

  8. Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype.

    PubMed

    Jonard, Laurence; Couloigner, Vincent; Pierrot, Sébastien; Louha, Malek; Gherbi, Souad; Denoyelle, Françoise; Marlin, Sandrine

    2012-01-01

    In 2008, SLC29A3 has been implicated in a syndromic form of genodermatosis: H syndrome. The major features encountered in H syndrome are Hearing loss, Hyperglycaemia, Heart anomalies, Hypertrichosis, Hyperpigmentation, Hepatomegaly and Hypogonadism. More recently, SLC29A3 mutations have been described in families presenting syndromes associating generalized histiocytosis to systemic progressive features: severe camptodactyly, hearing loss, hypogonadism, hepatomegaly, heart defects and skin hyperpigmentation. We have identified a homozygous missense SLC29A3 mutation in a patient presenting with only a progressive sensorineural hearing impairment and a single cervical node (Rosai Dorfman). SLC29A3 mutations appear to be involved in a large phenotypic continuum which should prompt physicians to study this gene even in mild clinical presentations. PMID:21888995

  9. 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

  10. Zellweger syndrome: A cause of neonatal hypotonia and seizures

    PubMed Central

    Kheir, Abdelmoneim E. M.

    2011-01-01

    Zellweger syndrome, a paradigm of human peroxisomal disorders is characterized by dysmorphic features, hypotonia, severe neuro-developmental delay, hepatomegaly, renal cysts, sensorineural deafness and retinal dysfunction. This is a case report of a baby boy born with facial dysmorphism, profound hypotonia, seizures, and hepatomegaly. The diagnosis was not evident initially but only later when he presented with obstructive jaundiced and renal cysts. He died at the age of seven months. Biochemical studies revealed elevation of very long chain fatty acids and phytanic acid consistent with a peroxisomal disorder. The recognition of this syndrome is important since it is a fatal hereditary disease. Zellweger syndrome should be included in the differential diagnosis of infantile hypotonia and dysmorphism.

  11. 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%). PMID:15819798

  12. 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.

  13. Kwashiorkor-like zinc deficiency syndrome in anorexia nervosa.

    PubMed

    Esca, S A; Brenner, W; Mach, K; Gschnait, F

    1979-01-01

    This report deals with a 26-year-old white woman exhibiting signs of both Kwashiorkor (marasmus, pallor, hypopigmentation of hair and hepatomegaly) and acrodermatitis enteropathica (eczematous dermatitis predominantly on acral areas). Clinical and laboratory examinations excluded malabsorption syndrome and glucagonoma syndrome and revealed hypoproteinemia and marked zinc deficiency. Psychiatric examination disclosed anorexia nervosa. Substitution therapy led to rapid clearing of the skin lesions. PMID:92154

  14. Case of Sepsis Caused by Bifidobacterium longum

    PubMed Central

    Ha, Gyoung Yim; Yang, Chang Heon; Kim, Heesoo; Chong, Yunsop

    1999-01-01

    We report a case of sepsis caused by Bifidobacterium longum in a 19-year-old male who had developed high fever, jaundice, and hepatomegaly after acupuncture therapy with small gold needles. Anaerobic, non-spore-forming, gram-positive bacilli were isolated from his blood and finally identified as B. longum. He recovered completely after treatment with ticarcillin and metronidazole. To our knowledge, this is the first report of incidental sepsis caused by B. longum. PMID:10074561

  15. Juvenile Myelomonocytic Leukemia in a Premature Neonate Mimicking Neonatal Sepsis.

    PubMed

    Lee, Ming-Luen; Yen, Hsiu-Ju; Chen, Shu-Jen; Hung, Giun-Yi; Tsao, Pei-Chen; Soong, Wen-Jue

    2016-04-01

    Juvenile myelomonocytic leukemia (JMML) is a rare hematologic malignancy in children. Its presentations include anemia, thrombocytopenia, monocytosis, skin rash, marked hepatomegaly, and/or splenomegaly. Fever and respiratory involvement are common. Here, we report a case of a premature neonate with initial symptoms of respiratory distress. She gradually developed clinical manifestations of JMML that mimicked neonatal sepsis. Three weeks after birth, JMML was diagnosed. This is the first reported case of JMML presenting in a premature infant in Taiwan. PMID:24269860

  16. Liver lobe torsion in three adult rabbits.

    PubMed

    Wenger, S; Barrett, E L; Pearson, G R; Sayers, I; Blakey, C; Redrobe, S

    2009-06-01

    This paper describes three cases of liver lobe torsion in rabbits presenting with anorexia, lethargy, jaundice and abdominal pain. This condition was associated with anaemia and elevation of alanine aminotransferase, aspartate aminotransferase and gamma-glutamyl transferase. Abnormal radiological findings included hepatomegaly, gas-filled intestinal loops consistent with gastrointestinal ileus and ascites. Ultrasonographic findings included heterogeneous liver parenchyma, free abdominal fluid and reduced bowel motility. Diagnosis was confirmed by histopathological examination of the liver in all three cases. PMID:19527423

  17. [Oral cholangiography and duodenal atresia].

    PubMed

    Baeza-Herrera, Carlos; León-Cruz, Alberto; Sanjuán-Fabián, Héctor; García-Cabello, Luís Manuel

    2006-01-01

    A newborn male patient with trisomy-21 presented with bilious hemesis. The patient was icteric with slight hepatomegaly. Simple abdominal X-ray and upper gastrointestinal series with barium showed a dilated duodenal loop and inflammatory changes involving the duodenal mucosa. This image known as "double bubble" is characteristic of congenital duodenal obstruction. Simultaneously the gallbladder and choledochus were visualized. The former X-ray finding is very unusual. An uneventful Kimura procedure was performed. PMID:16711553

  18. Clinical Profile of Dengue Fever in Children: A Study from Southern Odisha, India.

    PubMed

    Mishra, Shubhankar; Ramanathan, Ramya; Agarwalla, Sunil Kumar

    2016-01-01

    Background. In India, dengue epidemics are becoming more frequent (WHO, 2008). The majority of dengue viral infections are self-limiting, but complications may cause high morbidity and mortality. Objectives. To assess the clinical profile of the dengue infection in children less than 14 years of age and to evaluate the outcomes of dengue fever from September 2013 to August 2015 at the Pediatric Department of Maharaja Krishna Chandra Gajapati Medical College, the largest tertiary care hospital of southern Odisha. Results. A total of 97 cases were classified into 84 (86.59%) nonsevere and 13 (13.40%) severe dengue cases. The most common age of presentation was above 11 yrs. The mean age of admission was 8.7 yrs. The most common presenting symptom was fever seen in 100% and hepatomegaly (43.8%), the most common physical finding. Gastrointestinal bleeding was markedly seen in severe dengue (76.9%). Elevation in aspartate transaminase (SGOT) was found in 47.42% and thrombocytopenia in 27.5%. The correlation between hepatomegaly and elevated SGOT was significant (P value 0.0346). Case fatality rate (CFR) was 1.03%. The mean duration of hospitalisation was 3.8 days. Conclusion. In children, if symptoms like fever, pain, rashes, and vomiting are associated with hepatomegaly and elevated SGOT in context of low TPC, a strong possibility of dengue fever is present, especially in an epidemic setting. Early suspicion and effective management can reduce the severity. PMID:27213083

  19. Natural history of transient myeloproliferative disorder clinically diagnosed in Down syndrome neonates: a report from the Children's Oncology Group Study A2971

    PubMed Central

    Alonzo, Todd A.; Gerbing, Robert B.; Hilden, Joanne M.; Sorrell, April D.; Sharma, Mukta; Loew, Thomas W.; Arceci, Robert J.; Barnard, Dorothy; Doyle, John; Massey, Gita; Perentesis, John; Ravindranath, Yaddanapudi; Taub, Jeffrey; Smith, Franklin O.

    2011-01-01

    Transient myeloproliferative disorder (TMD), restricted to newborns with trisomy 21, is a megakaryocytic leukemia that although lethal in some is distinguished by its spontaneous resolution. Later development of acute myeloid leukemia (AML) occurs in some. Prospective enrollment (n = 135) elucidated the natural history in Down syndrome (DS) patients diagnosed with TMD via the use of uniform monitoring and intervention guidelines. Prevalent at diagnosis were leukocytosis, peripheral blast exceeding marrow blast percentage, and hepatomegaly. Among those with life-threatening symptoms, most (n = 29/38; 76%) received intervention therapy until symptoms abated and then were monitored similarly. Organomegaly with cardiopulmonary compromise most frequently led to intervention (43%). Death occurred in 21% but only 10% were attributable to TMD (intervention vs observation patients: 13/14 vs 1/15 because of TMD). Among those solely observed, peripheral blasts and all other TMD symptoms cleared at a median of 36 and 49 days from diagnosis, respectively. On the basis of the diagnostic clinical findings of hepatomegaly with or without life-threatening symptoms, 3 groups were identified with differing survival: low risk with neither finding (38%), intermediate risk with hepatomegaly alone (40%), and high risk with both (21%; overall survival: 92% ± 8%, 77% ± 12%, and 51% ± 19%, respectively; P ≤ .001). Among all, AML subsequently occurred in 16% at a median of 441 days (range, 118-1085 days). The trial is registered at http://www.clinicaltrials.gov as NCT00003593. PMID:21849481

  20. Clinical Profile of Dengue Fever in Children: A Study from Southern Odisha, India

    PubMed Central

    Mishra, Shubhankar; Ramanathan, Ramya; Agarwalla, Sunil Kumar

    2016-01-01

    Background. In India, dengue epidemics are becoming more frequent (WHO, 2008). The majority of dengue viral infections are self-limiting, but complications may cause high morbidity and mortality. Objectives. To assess the clinical profile of the dengue infection in children less than 14 years of age and to evaluate the outcomes of dengue fever from September 2013 to August 2015 at the Pediatric Department of Maharaja Krishna Chandra Gajapati Medical College, the largest tertiary care hospital of southern Odisha. Results. A total of 97 cases were classified into 84 (86.59%) nonsevere and 13 (13.40%) severe dengue cases. The most common age of presentation was above 11 yrs. The mean age of admission was 8.7 yrs. The most common presenting symptom was fever seen in 100% and hepatomegaly (43.8%), the most common physical finding. Gastrointestinal bleeding was markedly seen in severe dengue (76.9%). Elevation in aspartate transaminase (SGOT) was found in 47.42% and thrombocytopenia in 27.5%. The correlation between hepatomegaly and elevated SGOT was significant (P value 0.0346). Case fatality rate (CFR) was 1.03%. The mean duration of hospitalisation was 3.8 days. Conclusion. In children, if symptoms like fever, pain, rashes, and vomiting are associated with hepatomegaly and elevated SGOT in context of low TPC, a strong possibility of dengue fever is present, especially in an epidemic setting. Early suspicion and effective management can reduce the severity. PMID:27213083

  1. Lysosomal acid lipase deficiency: diagnosis and treatment of Wolman and Cholesteryl Ester Storage Diseases.

    PubMed

    Porto, Anthony F

    2014-09-01

    Lysosomal acid lipase (LAL) is responsible for the hydrolysis of cholesterol esters and triglycerides. LAL is coded by the LIPA gene on chromosome 10q23.31. Its deficiency leads to two autosomal recessive disorders, Wolman disease (WD) and Cholesteryl Ester Storage Disease (CESD). WD has an estimated incidence of 1 in 500,000 live births and is the result of a complete loss of LAL and presents in infancy with vomiting, diarrhea, poor weight gain and hepatomegaly subsequently leading to death. CESD is the result of partial loss of LAL and its presentation is more variable. Patients may be asymptomatic or present with nonspecific gastrointestinal symptoms, hepatomegaly, elevated transaminases and dystipidemia which may be confused with the diagnosis of Non-alcoholic Fatty Liver Disease. CESD is currently underdiagnosed and has an estimated prevalence as high as I in 40,000 individuals. Radiologic findings in WD is calcification of the adrenal glands. Hepatomegaly is noted on CT scan in both WD and CESD. MRI may demonstrate accumulation of cholesterol esters and may be useful to study effects of potential medical therapies. The diagnosis of WD and CESD is based on LIPA gene sequencing and the measurement of LAL levels in peripheral blood leukocytes. Treatment of LAL deficiency is currently limited to control of cholesterol levels and to prevent premature atherosclerosis. Use of enzyme replacement therapy with recombinant human LAL in short-term studies has shown to be safe and effective. PMID:25345094

  2. 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. PMID:26317079

  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. Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency.

    PubMed

    Dionisi-Vici, Carlo; Shteyer, Eyal; Niceta, Marcello; Rizzo, Cristiano; Pode-Shakked, Ben; Chillemi, Giovanni; Bruselles, Alessandro; Semeraro, Michela; Barel, Ortal; Eyal, Eran; Kol, Nitzan; Haberman, Yael; Lahad, Avishai; Diomedi-Camassei, Francesca; Marek-Yagel, Dina; Rechavi, Gideon; Tartaglia, Marco; Anikster, Yair

    2016-09-01

    Transient infantile hypertriglyceridemia (HTGT1; OMIM #614480) is a rare autosomal recessive disorder, which manifests in early infancy with transient hypertriglyceridemia, hepatomegaly, elevated liver enzymes, persistent fatty liver and hepatic fibrosis. This rare clinical entity is caused by inactivating mutations in the GPD1 gene, which encodes the cytosolic isoform of glycerol-3-phosphate dehydrogenase. Here we report on four patients from three unrelated families of diverse ethnic origins, who presented with hepatomegaly, liver steatosis, hypertriglyceridemia, with or without fasting ketotic hypoglycemia. Whole exome sequencing revealed the affected individuals to harbor deleterious biallelic mutations in the GPD1 gene, including the previously undescribed c.806G > A (p.Arg269Gln) and c.640T > C (p.Cys214Arg) mutations. The clinical features in three of our patients showed several differences compared to the original reports. One subject presented with recurrent episodes of fasting hypoglycemia along with hepatomegaly, hypetriglyceridemia, and elevated liver enzymes; the second showed a severe liver disease, with intrahepatic cholestasis associated with kidney involvement; finally, the third presented persistent hypertriglyceridemia at the age of 30 years. These findings expand the current knowledge of this rare disorder, both with regard to the phenotype and molecular basis. The enlarged phenotypic spectrum of glycerol-3-phosphate dehydrogenase 1 deficiency can mimic other inborn errors of metabolism with liver involvement and should alert clinicians to recognize this entity by considering GPD1 mutations in appropriate clinical settings. PMID:27368975

  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. PMID:16000385

  6. Appendicular mass complicating acute appendicitis in a patient with dengue fever.

    PubMed

    Low, Y N; Cheong, B M K

    2016-04-01

    Abdominal pain with dengue fever can be a diagnostic challenge. Typically, pain is localised to the epigastric region or associated with hepatomegaly. Patients can also present with acute abdomen. We report a case of a girl with dengue fever and right iliac fossa pain. The diagnosis of acute appendicitis was made only after four days of admission. An appendicular mass and a perforated appendix was noted during appendectomy. The patient recovered subsequently. Features suggestive of acute appendicitis are persistent right iliac fossa pain, localised peritonism, persistent fever and leucocytosis. Repeated clinical assessment is important to avoid missing a concurrent diagnosis like acute appendicitis. PMID:27326951

  7. 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. PMID:23715369

  8. Neonatal Carnitine Palmitoyltransferase II Deficiency: A Lethal Entity.

    PubMed

    Malik, Sushma; Paldiwal, Ashutosh Abhimanyu; Korday, Charusheela Sujit; Jadhav, Shruti Sudhir

    2015-10-01

    Carnitine palmitoyltransferase II (CPTII) deficiency is a rare disorder of mitochondrial fatty acid oxidation with autosomal recessive mode of inheritance. Three classic forms of CPT II deficiency have been described namely the lethal neonatal form, severe infantile hepatocardiomuscular form and the myopathic form. We present a three-day-old female child, admitted to us for lethargy, icterus, low sugars and convulsions. Persistent non ketotic hypoglycaemia, hyperammonemia, raised liver enzymes with hepatomegaly and cardiomyopathy led to the suspicion of fatty acid oxidation defect. Tandem mass spectrometry helped to clinch the diagnosis of CPT II Deficiency in the present case. PMID:26557586

  9. Transgluteal CT-Guided Percutaneous Renal Access for Percutaneous Nephrolithotomy in a Pelvic Horseshoe Kidney

    PubMed Central

    Mullins, Ryan J.; Dauw, Casey A.; Borofsky, Michael S.; York, Nadya; Patel, Aashish A.

    2015-01-01

    Abstract CT-guided percutaneous renal access has been described as a safe and effective access technique in patients with complex anatomy, including ectopic kidney, retrorenal colon, spinal dysraphism, hepatomegaly, and splenomegaly. In comparison to conventional intraoperative fluoroscopic-guided access, CT imaging allows for delineation of surrounding structures that are at risk for injury during percutaneous access. However, previous reports indicate that pelvic kidneys might be inaccessible percutaneously without laparoscopic assistance. Herein, we present a novel transgluteal route to renal access for percutaneous nephrolithotomy (PCNL) in a patient with a pelvic horseshoe kidney and severe spinal deformity.

  10. Isolation and identification of psittacid herpesvirus 1 from imported psittacines in South Africa.

    PubMed

    Horner, R F; Parker, M E; Abrey, A N; Kaleta, E F; Prozesky, L

    1992-06-01

    Acute deaths occurred in 47 out of a total of 131 imported psittacine birds whilst in quarantine. Few and non-specific clinical signs were seen during the course of the disease outbreak, but gross pathology revealed severe hepatomegaly and splenomegaly. A herpes virus was isolated from liver and spleen material taken from 2 birds, an Amazon (Amazona aestiva aestiva) and a Yellow-collared macaw (Ara auricollis). Identification procedures included virus neutralisation tests carried out in chicken embryo fibroblast cultures. Neutralisation of the virus was obtained by antisera to Psittacid herpesvirus type 1 (HV1) but not against HV2 or HV3. PMID:1323676

  11. Diethylene glycol poisoning in Nigerian children.

    PubMed

    Okuonghae, H O; Ighogboja, I S; Lawson, J O; Nwana, E J

    1992-01-01

    Between June and September 1990, 47 children died at Jos University Teaching Hospital, Nigeria from ingestion of paracetamol syrup adulterated with diethylene glycol. Most of the children presented with anuria, fever, vomiting, diarrhoea and convulsions. Signs on admission were tachycardia, acidotic breathing, pallor, oedema and hepatomegaly. Laboratory findings included hyperkalaemia, acidosis, elevated creatinine level and hypoglycaemia. Management consisted of correction of dehydration and acidosis plus administration of antibiotics when indicated. None of the children had dialysis. All died within 2 weeks of admission. Proper government supervision of pharmaceutical companies and their agencies is urgently needed in order to prevent any future occurrence of such tragic deaths. PMID:1280035

  12. Deranged liver function tests in pregnancy: the importance of postnatal follow-up

    PubMed Central

    Stone, Sophia; Girling, Joanna C

    2009-01-01

    We report an asymptomatic 40-year-old woman with persistently deranged liver function tests found incidentally in the first trimester of her second pregnancy. No cause was apparent clinically, serologically or with imaging studies until a new finding of hepatomegaly led to a repeat ultrasound scan six weeks following delivery. A mass in the region of the common hepatic duct was confirmed to be a cholangiocarcinoma, with vascular invasion precluding curative surgical resection. This case highlights the need for close vigilance of patients with unexplained and persistently abnormal liver function tests, antenatally and postdelivery.

  13. An Indian girl with Fanconi-Bickel syndrome without SLC2A2 gene mutation

    PubMed Central

    Dayal, Devi; Dekate, Parag; Sharda, Sheetal; Das, Ashim; Attri, Savita

    2013-01-01

    Fanconi-Bickel syndrome is a rare autosomal-recessive disorder caused by defects in the facilitative glucose transporter 2 (GLUT2) gene. It is characterized by hepatorenal glycogen accumulation, tubular nephropathy and impaired utilization of glucose and galactose. In this communication, we present the case of a 5-year-old girl who presented with deforming rickets and massive hepatomegaly. Liver biopsy confirmed the diagnosis of glycogen storage disorder. However, the mutation of the SLC2A2 (GLUT2) gene was not found. Mutation negative patients with characteristic Fanconi-Bickel syndrome phenotype suggest additional underlying mechanisms that need exploration.

  14. Pathological observations on clinical Anaplasma marginale infection in cattle.

    PubMed

    Jaswal, Hitesh; Bal, M S; Singla, L D; Gupta, K; Brar, A P S

    2015-09-01

    Gross and histopathological changes were recorded in a pregnant cattle died of clinical anaplasmosis, a tick transmitted economically important disease caused by Anaplasma marginale. Grossly emaciated carcass along with pale visible mucous membranes and pale serosal surface, splenomegaly and hepatomegaly was observed. Microscopically, in lungs variable extend of interstitial pneumonia, emphysema along with infiltration of mononuclear cells was seen. Spleen showed extensive increase in red pulp area with massive proliferation of lymphocytes. In liver marked thickening of capsule with fatty changes along with retention of bile was seen. Gall bladder showed congestion, glandular hyperplasia and thickening wall. Myocardium showed degeneration and necrosis. PMID:26345059

  15. Niemann-Pick type C disease.

    PubMed

    Sheth, Jayesh J; Sheth, Frenny J; Oza, Nrupesh

    2008-06-01

    A 4-year-old Afghan girl born to consanguineous parents presented with progressive neurological regression and hepatomegaly noticed after one year of age. The child had hypotonia, repeated unexplained falls and facial dyskinesia. Bone marrow examination revealed presence of storage cells suggestive of Gauchers or Niemann Pick. Confirmatory study by lysosomal enzyme from leucocytes was normal for beta-Glucosidase and sphingomyelinase specific for Gauchers and Niemann Pick type A or B respectively. Further study was carried out on cultured skin fibroblasts in lipid deficient medium using filipin stain which showed presence of dark punctate granules confirming the diagnosis of Neimann-Pick type C, a rare autosomal recessive disorder. PMID:18599941

  16. 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.

  17. 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.

  18. 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

  19. 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. PMID:25800483

  20. Neonatal Carnitine Palmitoyltransferase II Deficiency: A Lethal Entity

    PubMed Central

    Paldiwal, Ashutosh Abhimanyu; Korday, Charusheela Sujit; Jadhav, Shruti Sudhir

    2015-01-01

    Carnitine palmitoyltransferase II (CPTII) deficiency is a rare disorder of mitochondrial fatty acid oxidation with autosomal recessive mode of inheritance. Three classic forms of CPT II deficiency have been described namely the lethal neonatal form, severe infantile hepatocardiomuscular form and the myopathic form. We present a three-day-old female child, admitted to us for lethargy, icterus, low sugars and convulsions. Persistent non ketotic hypoglycaemia, hyperammonemia, raised liver enzymes with hepatomegaly and cardiomyopathy led to the suspicion of fatty acid oxidation defect. Tandem mass spectrometry helped to clinch the diagnosis of CPT II Deficiency in the present case. PMID:26557586

  1. Radiocolloid liver imaging in hepatic steatosis

    SciTech Connect

    Lisbona, R.; Rush, C.L.; Derbekyan, V.; Novales-Diaz, J.A.

    1986-03-01

    In a review of 60 patients with fatty infiltration of the liver documented by Xe-133 imaging, 43% had normal radiocolloid liver images, and 57% had abnormal images with various combinations of hepatomegaly, mottling, splenomegaly, and splenic shift of radioactivity. None, however, showed focal defects. Fatty infiltrates do not simulate mass lesions on the radiocolloid study of the liver, and an area of photon deficiency in the presence of hepatic steatosis points to an additional pathologic process. The interpretation of the radiocolloid liver image is unhindered by fatty infiltration when searching for discrete space-occupying lesions.

  2. Polycystic liver disease

    PubMed Central

    Leão, Rodrigo Nazário; Salustio, Raquel; Ribeiro, José Vaz

    2014-01-01

    A widespread use of ultrasound (US) examination is contributing to an increase in the diagnosis of renal and hepatic cysts. However, the vast majority of these lesions are benign with an indolent course during the patient's lifespan. Adult polycystic kidney disease (APKD) is one of the most common diagnosed entities. APKD is a genetic disease defined by the presence of multiple kidney cysts, occasionally accompanied by hepatic cysts. The presence of hepatic cysts sparing kidneys is very rare and thereby must be assumed as a different clinical entity. This article describes a case of an exuberant hepatomegaly due to the presence of isolated multiple hepatic cysts without renal involvement. PMID:24443335

  3. 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. PMID:25112945

  4. IMAGING DIAGNOSIS-SCLEROSING ENCAPSULATING PERITONITIS IN A DOG.

    PubMed

    Veiga-Parga, Tamara; Hecht, Silke; Craig, Linden

    2015-01-01

    An approximately 5-month-old American Staffordshire terrier was presented with a history of recurrent peritoneal effusion. Abdominal radiographs and ultrasound showed a loculated effusion in the ventral abdomen with dorsal displacement of abdominal organs, hepatomegaly and rounding of liver and splenic margins. Computed tomography demonstrated centrally located gastrointestinal segments surrounded by a thin soft tissue band and a thickened peritoneal lining. At necropsy a fibrous membrane continuous with liver and splenic capsules encapsulated all abdominal organs. Microscopically the abdominal wall and fibrous capsule consisted of an irregular thick layer of hypocellular connective tissue. The final diagnosis was sclerosing encapsulating peritonitis. PMID:26095283

  5. 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.

  6. 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

  7. [Hurler syndrome: early diagnosis and treatment].

    PubMed

    Leroux, S; Muller, J-B; Boutaric, E; Busnel, A; Lemouel, F; Andro-Garçon, M; Neven, B; Valayannopoulos, V; Vinceslas, C

    2014-05-01

    Hurler syndrome, the most severe form of mucopolysaccharidosis type I (MPS I), is a rare lysosomal storage disease. The overall incidence of MPS I is 0.99-1.99/100,000 live births. Accumulation of glycosaminoglycans causes the progressive dysfunction of multiple organs. We report the case of a 3-week-old newborn who was hospitalized in the Neonatal Intensive Care Unit for feeding problems. Coarse facial features and gingival hypertrophy, associated with axial hypotonia, upper airway obstruction, and moderate hepatomegaly, led to the early diagnosis of MPS I at 3 weeks of age and was confirmed by an abnormally elevated amount of dermatan and heparan sulphate in the urine and complete deficiency of alpha-L-iduronidase lysosomal enzyme activity. The child was homozygous for the p.W402X mutation, located on chromosome 4p16.3 of the alpha-L-iduronidase (IDUA) gene. The clinical condition gradually deteriorated until the age of 4 months, with thoracic and lumbar dysostoses, glaucoma, cerebral ventricular dilatation and cervical spinal stenosis, dilated cardiomyopathy, and umbilical hernia. Early diagnosis allowed enzyme replacement therapy (iaronidase, Aldurazyme(®), Genzyme) started at the age of 5 months, which provided stabilization of the heart disease, significant regression of rhinologic symptoms, and regression of hepatomegaly. Cord blood hematopoietic stem cell transplantation was performed at 11 months of age, allowing optimal preservation of cognitive development. PMID:24698225

  8. 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.

  9. Glycogen storage disease type III: A novel Agl knockout mouse model.

    PubMed

    Pagliarani, Serena; Lucchiari, Sabrina; Ulzi, Gianna; Violano, Raffaella; Ripolone, Michela; Bordoni, Andreina; Nizzardo, Monica; Gatti, Stefano; Corti, Stefania; Moggio, Maurizio; Bresolin, Nereo; Comi, Giacomo P

    2014-11-01

    Glycogen storage disease type III is an autosomal recessive disease characterized by a deficiency in the glycogen debranching enzyme, encoded by AGL. Essential features of this disease are hepatomegaly, hypoglycemia, hyperlipidemia, and growth retardation. Progressive skeletal myopathy, neuropathy, and/or cardiomyopathy become prominent in adults. Currently, there is no available cure. We generated an Agl knockout mouse model by deletion of the carboxy terminus of the protein, including the carboxy end of the glucosidase domain and the glycogen-binding domain. Agl knockout mice presented serious hepatomegaly, but we did not observe signs of cirrhosis or adenomas. In affected tissues, glycogen storage was higher than in wild-type mice, even in the central nervous system which has never been tested in GSDIII patients. The biochemical findings were in accordance with histological data, which clearly documented tissue impairment due to glycogen accumulation. Indeed, electron microscopy revealed the disruption of contractile units due to glycogen infiltrations. Furthermore, adult Agl knockout animals appeared less prompt to move, and they exhibited kyphosis. Three-mo-old Agl knockout mice could not run, and adult mice showed exercise intolerance. In addition, older affected animals exhibited an accelerated respiratory rate even at basal conditions. This observation was correlated with severe glycogen accumulation in the diaphragm. Diffuse glycogen deposition was observed in the tongues of affected mice. Our results demonstrate that this Agl knockout mouse is a reliable model for human glycogenosis type III, as it recapitulates the essential phenotypic features of the disease. PMID:25092169

  10. 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

  11. 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. PMID:27207549

  12. Human health effects from accidental release of tetrachlorodibenzo-p-dioxin (TCDD) at Seveso, Italy.

    PubMed

    Pocchiari, F; Silano, V; Zampieri, A

    1979-05-31

    This paper is a progress report of the epidemiologic work carried out under the supervision of the Lombardy Regional Authority during the two years elapsed from the accident in a TCP-producing factory (ICMESA) in Meda (Italy), which resulted in the contamination of several towns of a large, densely populated area called the Brianza di Seveso with a total population of 220,000 inhabitants. A wide follow-up program is in progress in the Seveso area; it includes a clinical screening of the population living in the contaminated area and longitudinal and systematic health control of different groups at risk; a long-term morbidity cohort study has been also undertaken. TCDD exposure following the ICMESA accident resulted in an increased chloracne frequency. Neurologic examinations showed both signs of idiopathic subclinical neurologic damage and cases of clinically detectable idiopathic polyneuropathy in adults. A limited percentage of idiopathic hepatomegaly was reported to be present on clinical investigation; no information, however, is given on the criteria by which the hepatomegaly was investigated. Some alterations were observed in some exposed people in one or more liver tests (mainly transaminases and gamma-GT). So far, immunologic investigations, cytogenetic examination and embryomorphology analysis on cases of therapeutical or spontaneous abortions have not given abnormal results. PMID:287395

  13. 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

  14. Wernicke's encephalopathy in a patient with gastric carcinoma: a diagnosis not to miss

    PubMed Central

    Udyavara Kudru, Chandrashekar; Kaniyoor Nagiri, Shivashankara; Rao, Sandeep

    2014-01-01

    We describe a case of a patient who presented with a 20-day history of vomiting, generalised weakness and loss of appetite and a 2-day history of altered sensorium. On examination, he was grossly emaciated and there were no palpable lymph nodes. Central nervous system examination revealed nystagmus with bilateral lateral recti palsy and abdominal examination showed mild hepatomegaly. MRI of the brain showed bilateral and symmetrical hypertense signal changes in T2-weighted and fluid-attenuated inversion recovery sequences with diffusion restriction in the paramedian ventromedial thalamus. These findings were compatible with Wernicke's encephalopathy. He was started on thiamine supplementation with which neurological signs improved. An ultrasound of the abdomen showed mild hepatomegaly with multiple hyperechoic lesions and wall thickening of the pyloric antrum. Upper gastroduodenoscopy showed ulcerative lesions involving the antrum, pylorus and duodenum. Biopsy revealed moderately differentiated adenocarcinoma. The patient underwent palliative gastrojejunostomy and was clinically better at discharge. It is important to consider Wernicke encephalopathy in patients with gastric cancer who have acute neurological symptoms. PMID:24654252

  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. Dnmt3a Regulates Myeloproliferation and Liver-Specific Expansion of Hematopoietic Stem and Progenitor Cells

    PubMed Central

    Guryanova, Olga A.; Lieu, Yen K.; Garrett-Bakelman, Francine E.; Spitzer, Barbara; Glass, Jacob L.; Shank, Kaitlyn; Valencia Martinez, Ana Belen; Rivera, Sharon A.; Durham, Benjamin H.; Rapaport, Franck; Keller, Matthew D.; Pandey, Suveg; Bastian, Lennart; Tovbin, Daniel; Weinstein, Abby R.; Teruya-Feldstein, Julie; Abdel-Wahab, Omar; Santini, Valeria; Mason, Christopher E.; Melnick, Ari M.; Mukherjee, Siddhartha; Levine, Ross L.

    2015-01-01

    DNMT3A mutations are observed in myeloid malignancies, including myeloproliferative neoplasms (MPN), myelodysplastic syndromes (MDS), and acute myeloid leukemia (AML). Transplantation studies have elucidated an important role for Dnmt3a in stem cell self-renewal and in myeloid differentiation. Here we investigated the impact of conditional hematopoietic Dnmt3a loss on disease phenotype in primary mice. Mx1-Cre-mediated Dnmt3a ablation led to the development of a lethal, fully penetrant myeloproliferative neoplasm with myelodysplasia (MDS/MPN) characterized by peripheral cytopenias and by marked, progressive hepatomegaly. We detected expanded stem/progenitor populations in the liver of Dnmt3a-ablated mice. The MDS/MPN induced by Dnmt3a ablation was transplantable, including the marked hepatomegaly. Homing studies showed that Dnmt3a-deleted bone marrow cells preferentially migrated to the liver. Gene expression and DNA methylation analyses of progenitor cell populations identified differential regulation of hematopoietic regulatory pathways, including fetal liver hematopoiesis transcriptional programs. These data demonstrate that Dnmt3a ablation in the hematopoietic system leads to myeloid transformation in vivo, with cell autonomous aberrant tissue tropism and marked extramedullary hematopoiesis (EMH) with liver involvement. Hence, in addition to the established role of Dnmt3a in regulating self-renewal, Dnmt3a regulates tissue tropism and limits myeloid progenitor expansion in vivo. PMID:26710888

  17. 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.

  18. Morbidity Associated with Schistosomiasis Before and After Treatment in Young Children in Rusinga Island, Western Kenya

    PubMed Central

    Davis, Stephanie M.; Wiegand, Ryan E.; Mulama, Fridah; Kareko, Edmund Ireri; Harris, Robert; Ochola, Elizabeth; Samuels, Aaron M.; Rawago, Fredrick; Mwinzi, Pauline M.; Fox, LeAnne M.; Odiere, Maurice R.; Won, Kimberly Y.

    2015-01-01

    Schistosoma mansoni infection is a major cause of organomegaly and ultimately liver fibrosis in adults. Morbidity in pre-school-aged children is less defined, and they are currently not included in mass drug administration (MDA) programs for schistosomiasis control. We report results of a study of the association of schistosomiasis with organomegaly in a convenience sample of 201 children under 7 years old in Rusinga, Kenya on two cross-sectional visits, before and after praziquantel treatment. Data included stool examination and serology for schistosomiasis, the Niamey ultrasound protocol to stage hepatosplenic morbidity including organomegaly, and potential confounders including malaria. Unadjusted and adjusted Poisson regressions were performed. The baseline prevalence of schistosomiasis by antibody and/or stool was 80.3%. Schistomiasis was associated with hepatomegaly (adjusted prevalence ratio [aPR] = 1.4; 95% confidence interval [CI]: 1.0–2.1) and splenomegaly (aPR = 2.1; 95% CI: 1.2–3.7). The association with hepatomegaly persisted posttreatment (aPR = 1.4; 95% CI: 1.1–1.6). Schistosomiasis was associated with morbidity in this cohort. Efforts to include young children in mass treatment campaigns should intensify. PMID:25758651

  19. Hepatic inflammatory pseudotumor presenting in an 8-year-old boy: A case report and review of literature

    PubMed Central

    Al-Hussaini, Hussa; Azouz, Haya; Abu-Zaid, Ahmed

    2015-01-01

    Hepatic inflammatory pseudotumors are uncommon benign lesions. Accurately diagnosing hepatic inflammatory pseudotumor can be very challenging because the clinical presentation and radiological appearances are nonspecific and cannot be certainly distinguished from malignant neoplastic processes. Herein, we present a case of hepatic IPT in an 8-year-old boy who presented to clinic with a 3-mo history of a tender hepatic mass, fever of unknown origin, and 9-kg weight loss. The physical examination was notable for tender hepatomegaly. Laboratory investigations were notable for a normal hepatic profile and elevated erythrocyte sedimentation rate and C-reactive protein. A T2-attenuated magnetic resonance imaging scan of the abdomen showed a 4.7 cm × 4.7 cm × 6.6 cm, contrast-enhancing, hyper-intense, well-defined lesion involving the right hepatic lobe. In view of the unremitting symptoms, tender hepatomegaly, thrombosed right hepatic vein, nonspecific radiological findings, and high suspicion of a deep-seated underlying infection or malignancy, a right hepatic lobectomy was recommended. Microscopically, the hepatic lesion exhibited a mixture of inflammatory cells (histiocytes, plasma cells, mature lymphocytes, and occasional multinucleated giant cells) in a background of dense fibrous tissue. Immunohistochemically, the cells stained negative for SMA, ALK-1, CD-21 and CD-23, diffusely positive for CD-68, and focally positive for IgG4. The final histopathological diagnosis was consistent with hepatic IPT. At the postoperative 4-mo follow-up, the patient was asymptomatic without radiological evidence of recurrence. PMID:26229415

  20. c-Myc and Transforming Growth Factor α Enhance the Development of Hepatic Lesions Due to Mutant β-Catenin in Transgenic Mice

    PubMed Central

    Jochem, Adam S; Holmes, Katie E; Stein, Timothy J

    2014-01-01

    Alterations in the Wnt signaling pathway are associated with diverse cancers, including hepatocellular carcinoma (HCC). The development of HCC is thought to be a multistage process in which multiple genetic alterations are necessary. Few studies have assessed the effect of aberrant Wnt signaling activity in association with other molecular alterations in HCC. Here we sought to determine whether co-overexpression of c-Myc or TGFα, 2 signaling molecules known to contribute to HCC development, enhanced the development of hepatic lesions associated with a stabilized β-catenin. The coexpression of mutant β-catenin with either c-Myc or TGFα within hepatocytes increased the severity of hepatic lesions compared with that associated with any of the transgenes expressed individually. The coexpression of mutant β-catenin with c-Myc or TGFα resulted in severe hepatomegaly necessitating the euthanasia of mice by an average of 156 and 128 d, respectively, after the cessation of doxycycline. The expression of mutant β-catenin alone resulted in mild to moderate hepatomegaly that prompted the euthanasia of mice by an average of 75 d after the cessation of doxycycline. Collectively, these findings indicate that coexpression of c-Myc or TGFα delays the onset of endstage hepatic disease yet enhances the severity of hepatic lesions due to mutant β-catenin. PMID:25402175

  1. Hepatic haemangiomata: diagnosis and management.

    PubMed Central

    Larcher, V F; Howard, E R; Mowat, A P

    1981-01-01

    Five cases of hepatic haemangioma are described, and a sixth (previously reported) is reviewed. Clinical features, investigation, and management are described to show the great variability of the complications and prognosis. Five children presented in the first 10 weeks of life with hepatomegaly; 4 developed congestive cardiac failure; 3 had cutaneous haemangiomata. One child presented at age 4 years with hepatomegaly and anaemia, and on investigation had features of chronic disseminated intravascular coagulation. Focal decrease or patchiness in hepatic uptake of technetium-99m colloid, and abnormal intrahepatic circulation was shown in all cases. In 3 children liver biopsy was performed to exclude malignant disease. In one patient there was spontaneous regression of the tumour by age 3 years. In 3 cases hepatic artery ligation was necessary to control congestive cardiac failure which had persisted despite treatment with digoxin, diuretics, and oral corticosteroids, a procedure which was without complications after up to 8 years. One infant with intractable portal hypertension, hepatic vein obstruction, and severe cholestasis died with persisting alimentary haemorrhage and intra-abdominal sepsis. One child aged 4 years showed no immediate response to hepatic artery ligation but the size of her tumour got smaller and the clinical features diminished after irradiation. These tumours cause considerable morbidity and have a high reported mortality. If congestive cardiac failure is not rapidly controlled, hepatic artery ligation should be performed. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 Fig. 5 Fig. 6 PMID:7469456

  2. 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

  3. Severe Q fever community-acquired pneumonia (CAP) mimicking Legionnaires' disease: Clinical significance of cold agglutinins, anti-smooth muscle antibodies and thrombocytosis.

    PubMed

    Cunha, Burke A; Nausheen, Sara; Busch, Lori

    2009-01-01

    Atypical community-acquired pneumonia (CAP) may be caused by zoonotic or nonpulmonary pathogens. However, atypical pathogens are systemic infectious disease accompanied by pneumonia in contrast with typical bacterial pathogens with infection limited to the lungs and absent extrapulmonary findings. Clinically and radiologically, the atypical CAP pathogens that most closely resemble each other are psittacosis, Q fever, and Legionnaires' disease. Psittacosis can usually be readily suspected or eliminated on the basis of a recent psittacine bird contact history. The 2 atypical pneumonias that most closely resemble each other clinically are Q fever and Legionnaires' disease. The epidemiology of Q fever is related to livestock, and sporadic cases are related to contact to parturient cats. In nonendemic areas, Q fever CAP mimics Legionnaires' disease most closely. Both Q fever and Legionella CAP have several clinical and laboratory features in common. However, there are subtle but important differences that allow the astute clinician to differentiate between these 2 disorders on the basis of clinical and nonspecific laboratory findings before definitive diagnostic tests results are reported. We report a case of severe Q fever CAP mimicking Legionnaires' disease in a young adult normal host. Her initial zoonotic contact history was negative, and her clinical presentation suggested Legionnaires' disease as the most likely diagnosis. Against the diagnosis of Legionnaires' disease was the patient's age and occurrence of the disease in spring time. In contrast, Legionnaires' disease is usually an infection of older individuals and occurs in late summer/fall. Although the patient did not have splenomegaly, a common finding in Q fever CAP, she did have mild hepatomegaly. Hepatomegaly is a uncommon in Q fever CAP but is not a feature of Legionnaires' disease. In the absence of a positive zoonotic contact history, the cardinal findings pointing to the diagnosis of Q fever in this

  4. Liver transplantation for polycystic liver disease.

    PubMed

    Pirenne, J; Aerts, R; Yoong, K; Gunson, B; Koshiba, T; Fourneau, I; Mayer, D; Buckels, J; Mirza, D; Roskams, T; Elias, E; Nevens, F; Fevery, J; McMaster, P

    2001-03-01

    Polycystic liver disease (PLD) may provoke massive hepatomegaly and severe physical and social handicaps. Data on orthotopic liver transplantation (OLT) for PLD are rare and conflicting. Conservative surgery (resection or fenestration) is indicated for large single cysts, but its value for small diffuse cysts is questionable. In addition, conservative surgery is not devoid of morbidity and mortality. OLT offers the prospect of a fully curative treatment, but controversy remains because those patients usually have preserved liver function. Thus, we reviewed our experience with OLT for PLD. Sixteen adult women underwent OLT for small diffuse PLD between 1990 and 1999. Mean age was 45 years (range, 34 to 56 years). Fourteen patients had combined liver and kidney cystic disease, but only 1 patient required combined liver and kidney transplantation, whereas 13 patients underwent OLT alone. Two patients had isolated PLD. Indications for transplantation were massive hepatomegaly causing physical handicaps (n = 16), social handicaps (n = 16), malnutrition (n = 4), and cholestasis and/or portal hypertension (n = 5). OLT caused no technical difficulty in 15 of 16 patients (surgery duration, 6.8 hours; range, 5 to 8 hours), with blood transfusions of 7.9 units (range, 0 to 22 units). One patient who underwent attempted liver-mass reduction pre-OLT died of bleeding and pulmonary emboli. Native liver weight was 10 to 20 kg. Posttransplantation immunosuppression consisted of cyclosporine or FK506, azathioprine, and steroids (discontinued at 3 months). Morbidity included biliary stricture (2 patients), revision for bleeding and hepatitis (1 patient), pneumothorax and subphrenic collection (1 patient), and tracheostomy (1 patient). One patient died of lung cancer 6 years posttransplantation. Both patient and graft survival rates are 87.5% (follow-up, 3 months to 9 years). Of 15 patients who underwent OLT alone, only 1 patient needed a kidney transplant 4 years after OLT. Kidney

  5. [Maroteaux-Lamy syndrome: a case report].

    PubMed

    Mtar, Aida; Charfeddine, Bassem; Braham, Imen; Ben Abdallah, Jihene; Neffati, Souhir; Smach, Mohamed Ali; Bourfifa, Zouhaier; Ksouri, Monia; Dridi, Hedi; Limem, Khalifa

    2011-01-01

    The Maroteaux-Lamy disease, or mucopolysaccharidosis type VI is an inherited metabolic disorder severe and rare. It is caused by a deficiency of the enzyme arylsulfatase B. It is characterized by a heterogeneous clinical, radiological and genetic. We report the case of a Maroteaux-Lamy syndrome of in a child aged 7 years whose diagnosis was suspected clinically by the combination of a dysmorphic syndrome, a failure to thrive not harmonious, hepatomegaly and normal intelligence. Radiological exams have objectified dysostosis multiplex. Biochemical analysis of urine showed the abnormal presence of dermatan sulfate. The determination of leukocyte enzyme activity confirmed the diagnosis by showing arylsulfatase B deficiency. Hence the diagnosis of syndrome Maroteaux-Lamy in its mild form (type B) was selected. PMID:22123570

  6. Lessons from hepatocyte-specific Cyp51 knockout mice: impaired cholesterol synthesis leads to oval cell-driven liver injury.

    PubMed

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

    2015-01-01

    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. PMID:25739789

  7. 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.

  8. Propofol-Related Infusion Syndrome in Critically Ill Pediatric Patients: Coincidence, Association, or Causation?

    PubMed Central

    Timpe, Erin M.; Eichner, Samantha F.; Phelps, Stephanie J.

    2006-01-01

    Over the past two decades numerous reports have described the development of a propofol-related infusion syndrome (PRIS) in critically ill adult and pediatric patients who received continuous infusion propofol for anesthesia or sedation. The syndrome is generally characterized by progressive metabolic acidosis, hemodynamic instability and bradyarrhythmias that are refractory to aggressive pharmacological treatments. PRIS may occur with or without the presence of hepatomegaly, rhabdomyolysis or lipemia. To date, the medical literature contains accounts of 20 deaths in critically ill pediatric patients who developed features consistent with PRIS. These reports have generated considerable discussion and debate regarding the relationship, if any, between propofol and a constellation of clinical symptoms and features that have been attributed to its use in critically ill pediatric patients. This paper reviews the literature concerning PRIS, its clinical presentation, proposed mechanisms for the syndrome, and potential management should the syndrome occur. PMID:23118644

  9. CT scan diagnosis of hepatic adenoma in a case of von Gierke disease

    PubMed Central

    Daga, Bipin Valchandji; Shah, Vaibhav R; More, Rahul B

    2012-01-01

    Hepatic adenoma is a well-defined, benign, solitary tumor of the liver. In individuals with glycogen storage disease I, adenoma tends to occur at a relatively younger age and can be multiple (adenomatosis). Imaging plays a pivotal role in diagnosing hepatic adenoma and in differentiating adenoma from other focal hepatic lesions. Especially in patients with von Gierke disease, in addition to the associated hepatomegaly caused by steatohepatitis and the diffusely reduced attenuation of the liver parenchyma seen on CT, there may be more than one hepatic adenoma in up to 40% of patients. Malignant degeneration of hepatic adenoma into hepatocellular carcinoma can occur and hence imaging is important for prompt diagnosis of adenoma and its complications. In this case report, we present a case of liver adenoma diagnosed by CT scan in a patient with von Gierke disease. PMID:22623817

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

    PubMed Central

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

    2015-01-01

    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. PMID:25739789

  11. [Hydrops of the gallbladder associated with Epstein-Barr virus infection].

    PubMed

    Gómez de la Torre, R; Claros González, I J; Rubio Barbón, S; Triviño López, A

    2000-01-01

    A 50-year-old male developed Hydrops of Gallbladder during the course of Epstein-Barr virus infection. The patient had a history of acute encephalitis one month prior to admission. Physical examination revealed jaundice and hepatomegaly. Liver function tests were abnormal and the white blood count was normal with 15% of atypical lymphocytes. Ultrasonography revealed a distended gall-bladder without wall thickening or cholelithiasis. The diagnoses of primary Epstein-Barr infection was made by positivity from EBV VCA IgM serological study. Two weeks later, total clinical, biochemical and ultrasonography resolution were observed. We comment this exceptionally presentation of EBV infection. The great variability of clinical pictures of Infectious Mononucleosis was emphasized. PMID:10730404

  12. Bilateral Uveitis and Hyphema in a Catalina Macaw (Ara ararauna × Ara macao ) With Multicentric Lymphoma.

    PubMed

    Hausmann, Jennifer C; Mans, Christoph; Gosling, Allyson; Miller, Jaimie L; Chamberlin, Tamara; Dunn, John R; Miller, Paul E; Sladky, Kurt K

    2016-06-01

    A 20-year-old, female Catalina macaw (Ara ararauna × Ara macao ) was presented with bilateral uveitis and hyphema. The hyphema initially improved with 0.12% prednisolone acetate ophthalmic drops (1 drop OU q4h for 7 days), but the hyphema recurred after the drops were tapered. The bird subsequently developed inappetance, weight loss, regurgitation, and lethargy and was euthanatized 24 days after initial presentation. Necropsy revealed marked splenomegaly and hepatomegaly, with significant mucosal ulcerations of the proventriculus and petechiation associated with both kidneys. Histopathologic examination revealed multicentric lymphoma, with neoplastic cells observed in ocular, splenic, hepatic, renal, proventricular, intestinal, pancreatic, and choanal tissue. Neoplastic lymphocytes effaced the iris, ciliary body, and the choroid of the eyes, and neoplastic lymphocytes were attached to the corneal endothelium and infiltrated the sclera, episclera, and conjunctivae. Immunohistochemical results indicated that the neoplastic lymphocytes were CD3(+) and CD79a(-), which is consistent with T-cell lymphoma. PMID:27315386

  13. [Autoimmune hemolytic anemia in a patient with TAFRO syndrome].

    PubMed

    Edahiro, Yoko; Ichikawa, Kunimoto; Sunami, Yoshitaka; Koike, Michiaki; Komatsu, Norio

    2015-11-01

    TAFRO syndrome is a systemic inflammatory disorder characterized by low platelet counts, anasarca, fever, reticulin fibrosis, renal dysfunction, and organomegaly. Patients with TAFRO syndrome occasionally have courses complicated by immunological diseases. Herein, we describe a case of TAFRO syndrome associated with autoimmune hemolytic anemia (AIHA). The patient was admitted because of menorrhagia. She had thrombocytopenia, pleural effusion and ascites, hepatomegaly, and multiple lymphadenopathies. Her symptoms worsened, especially fever, pleural effusion and ascites, and she developed AIHA. Steroid pulse therapy followed by 45 mg of prednisolone (PSL) improved not only the symptoms of TAFRO syndrome but also those of AIHA. There have been no reports, to our knowledge, of AIHA associated with TAFRO syndrome, and detailed studies on this syndrome are needed. PMID:26666723

  14. Waldenström's macroglobulinemia as a diagnostic challenge: case report.

    PubMed

    Budimir, Ivan; Nikolić, Marko; Pusić, Mateja Sabol; Hrabar, Davor; Ljubicić, Neven; Duvnjak, Marko; Supanc, Vladimir; Nikolac, Ivana; Babić, Nenad; Sokcević, Marija

    2014-03-01

    Waldenström's macroglobulinemia is a distinct clinicopathologic entity defined as a B-cell neoplasm characterized by lymphoplasmacytic infiltrate in the bone marrow, with an associated immunoglobulin (Ig) M paraprotein. Clinical manifestations are due to deposition of IgM in the liver, spleen, and/or lymph nodes, so it presents with anemia, hyperviscosity, lymphadenopathy, hepatomegaly, splenomegaly and neurologic symptoms. The main diagnostic criteria are a typical peak on serum protein electrophoresis and malignant cells in bone marrow biopsy samples. There is no standard therapy for the treatment of symptomatic Waldenstrom's macroglobulinemia and no agents have been specifically approved for this disease, but initial treatment usually starts with the monoclonal anti-CD20 antibody rituximab, either alone or in combination with other agents, rather than chemotherapy alone. This article confirms that, despite the existence of more modern imaging methods, ultrasonography still has a significant diagnostic role. PMID:24974671

  15. Systemic augmentation of the immune response in mice by feeding fermented milks with Lactobacillus casei and Lactobacillus acidophilus.

    PubMed Central

    Perdigón, G; de Macias, M E; Alvarez, S; Oliver, G; de Ruiz Holgado, A P

    1988-01-01

    This study investigates the effect of feeding fermented milks with Lactobacillus casei, Lactobacillus acidophilus and a mixture of both micro-organisms on the specific and non-specific host defence mechanisms in Swiss mice. Animals fed with fermented milk for 8 days (100 micrograms/day) showed an increase in both phagocytic and lymphocytic activity. This activation of the immune system began on the 3rd day, reached a maximum on the 5th, and decreased slightly on the 8th day of feeding. In the 8-day treated mice, boosted with a single dose (100 micrograms) on the 11th day, the immune response increased further. The feeding with fermented milk produced neither hepatomegaly nor splenomegaly. These results suggest that L. casei and L. acidophilus, associated with intestinal mucosae, can influence the level of activation of the immune system. The possible clinical application of fermented milks as immunopotentiators is also discussed. PMID:3123370

  16. 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. PMID:23582974

  17. An extremely indolent T-cell leukemia: an 18-year follow-up.

    PubMed

    Adediran, Samuel; Cornfield, Dennis; Bagg, Adam; Agostino, Nicole

    2016-02-01

    T-cell prolymphocytic leukemia (T-PLL) is a rare malignancy that comprises about 2% of all mature lymphoid neoplasms. Patients usually present with prominent peripheral blood lymphocytosis, splenomegaly, hepatomegaly, lymphadenopathy, B symptoms, and occasionally with skin lesions.¹ The disease follows an aggressive clinical course with rapid progression and typically has a median survival of less than 1 year. In some cases, the disease is indolent for a period of time before becoming aggressive.² In 2002, 7 years after initial diagnosis in 1995, the case discussed herein was reported as a rare, indolent form of T-PLL.³ We now present 11 additional years of follow-up of this case, during which time the patient remained asymptomatic with respect to his lymphoid neoplasm. PMID:26955661

  18. Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency.

    PubMed

    Morris, A A M; Olpin, S E; Bennett, M J; Santani, A; Stahlschmidt, J; McClean, P

    2013-01-01

    Liver dysfunction usually accompanies metabolic decompensation in fatty acid oxidation disorders, including carnitine palmitoyltransferase (CPT) Ia deficiency. Typically, the liver is enlarged with raised plasma transaminase activities and steatosis on histological examination. In contrast, cholestatic jaundice is rare, having only been reported in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. We report a 3-year-old boy with CPT Ia deficiency who developed hepatomegaly and cholestatic jaundice following a viral illness. No cause for the jaundice could be found, apart from the fatty acid oxidation disorder. Liver histology showed diffuse, predominately macrovesicular steatosis, hepatocellular and canalicular cholestasis but no bile duct paucity or evidence of large duct obstruction. The liver dysfunction resolved in 4-7 weeks. PMID:23430491

  19. Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome.

    PubMed

    Thomas, J A; Jacobs, S; Kierstein, J; Van Hove, J

    2006-12-01

    Enzyme replacement therapy (ERT) with laronidase, recombinant alpha-L-iduronidase, for mucopolysaccharidosis type I (MPS I) has been clinically available since April 2003. Pre-approval studies were performed on patients with the more attenuated forms of MPS I, Hurler-Scheie and Scheie syndromes. The clinical efficacy of laronidase on the severe form of MPS I, Hurler syndrome, is not well known. We present a patient with Hurler syndrome who has been treated with laronidase for 3 years. Clinically, the patient demonstrated improvement in urinary glycosaminoglycan (GAG) levels and hepatomegaly, but continued to experience decline in respiratory status, musculoskeletal and spinal involvement, and developmental skills. Overall, the benefit of ERT with laronidase in advanced Hurler syndrome appeared to be minimal in this patient. PMID:17089217

  20. [Visceral larva migrans. A rare cause of eosinophilia in adults].

    PubMed

    Lund-Tønnesen, S

    1996-09-20

    Toxocariasis is a cosmopolitan infection of dogs and cats with a roundworm resembling Ascaris. Man becomes infected by ingesting eggs from the environment. The infection occurs mainly in children. There are two distinct syndromes: visceral larva migrans and ocular toxocariasis. The author describes the case of a 70 year old Norwegian female with visceral larva migrans. One month after a visit to Spain she developed fever, hepatomegaly and marked eosinophilia. Liver biopsy revealed subacute hepatitis with eosinophilic leucocyte infiltration. Toxocara ELISA was strongly positive. Treatment with albendazol 400 mg b.i.d. and prednisone 10 mg daily for three weeks was successful. A clinical relapse after three months was treated in the same way for one month. Prolonged treatment is recommended. To our knowledge, this is the first reported case of visceral larva migrans in an adult Norwegian. Epidemiology, diagnosis and treatment are discussed. PMID:8928142

  1. Rare manifestations of Neu-Laxova syndrome.

    PubMed

    Badakali, Meenakshi; Badakali, Ashok; Dombale, Vijay

    2012-02-01

    Neu-Laxova syndrome is a rare lethal congenital disorder involving multiple systems. Intrauterine growth retardation, ichthyosis, microcephaly, abnormal facial findings and limb contractures are its key features. We present a stillborn female baby of 1.5 kg with characteristic features including growth retardation, microcephaly, severe ectropion, micrognathia, flattened nose, eclabion, large ears, puffy hands and feet. In addition to these features, lissencephaly, severely hypoplastic cerebrum and corpus callossum, Dandy-Walker malformation, Transposition of Great Vessels and hepatomegaly were noted at autopsy. The patient was born at 38 weeks of gestation to consanguineous (second degree) Indian parents. The mother was 26 year old second gravida with lack of prenatal followup. Therefore, the condition was diagnosed postnatally. Because of the autosomal recessive inheritence of Neu-Laxova syndrome, in countries with high rates of consanguineous marriage, serial prenatal ultrasound examinations with genetic counseling should be performed on pregnant women at high risk to offer termination of affected pregnancies. PMID:22233503

  2. American Visceral Leishmaniasis (Kala-azar)

    PubMed Central

    Reis, Maria de Fatima Facanha Elias; de Alencar, Joaquim Eduardo; Naidu, Talapala G.; de Jesus, Jose Alfredo Lacerda; McAuliffe, Jay F.; Pearson, Richard D.; Evans, Thomas

    1985-01-01

    Visceral leishmaniasis (kala-azar) is an important cause of morbidity and mortality in widely scattered areas of the world. To better characterize the South American form of the disease, the clinical and laboratory manifestations of 29 patients admitted to hospital (18 male and 11 female patients, mean age 4.9 years), were assessed in an endemic area in northeastern Brazil. Fever, weight loss, pronounced splenomegaly, hepatomegaly, anemia, thrombocytopenia, relative neutropenia, hypoalbuminemia and hypergammaglobulinemia were found in the majority of patients. Symptoms were often present for two or more months before diagnosis. Secondary infections complicated many cases; there were ten cases of pneumonia and half of the patients had one or more intestinal parasites. The average length of hospital stay was 27 days; all patients were treated with meglumine antimoniate (Glucantime). The mortality rate was 3%. American visceral leishmaniasis remains an important disease among children living in endemic areas. ImagesFigure 1. PMID:4024631

  3. Noncirrhotic portal hypertension in association with juvenile nephropathic cystinosis: case presentation and review of the literature.

    PubMed

    DiDomenico, P; Berry, G; Bass, D; Fridge, J; Sarwal, M

    2004-01-01

    We report a case of portal hypertension and oesophageal varices arising in an 18-year-old female renal transplant recipient with juvenile nephropathic cystinosis diagnosed at 6 years of age. The patient had a history of poor compliance with her prescribed cysteamine therapy. Routine examination revealed normal liver function without hepatomegaly but asymptomatic splenomegaly. An abdominal ultrasound suggested mild oesophageal varices, confirmed later on endoscopy. A liver biopsy revealed an abundance of cystine crystals within the hepatic Kupffer cells, with preserved hepatic architecture. Although the pathophysiology of this rare complication is unclear, in the absence of other aetiologies the likely cause is the patient's poorly controlled cystinosis. As cystinotic patients live longer with improved renal transplant management and cysteamine therapy, it is of interest to characterize the long-term course of the illness after renal transplantation. An understanding of the pathophysiology of hepatic dysfunction will be required to manage this potential late complication of the disease. PMID:15669688

  4. Acute liver failure due to primary amyloidosis in a nephrotic syndrome: a swiftly progressive course.

    PubMed

    Cardoso, Brigite Aguiar; Leal, Rita; Sá, Helena; Campos, Mário

    2016-01-01

    AL amyloidosis is a clonal plasma cell proliferative disorder characterised by extracellular tissue deposits of insoluble fibrils derived from κ or λ immunoglobulin light chains. The most common organs affected by AL amyloidosis are the kidney, presenting with nephrotic syndrome and/or progressive renal dysfunction, and the heart, with restrictive cardiomyopathy. Hepatic deposition of fibrils occurs in half the cases but the liver is rarely the predominantly affected organ. The most common presentation of hepatic amyloidosis is hepatomegaly with elevated alkaline phosphatase. Acute liver failure with cholestasis and jaundice is a rare complication, with a prevalence of approximately 5%, and is usually associated with a worse prognosis. We report a case of a 39-year-old man admitted to our nephrology department with an unusual presentation of primary amyloidosis with nephrotic syndrome and acute liver failure, complicated by obstructive cholestasis resulting in death 2 months after diagnosis. PMID:26965175

  5. 18F-fluorodeoxyglucose positron emission tomography might be useful for diagnosis of hepatic amyloidosis

    PubMed Central

    Tawada, Akinobu; Kanda, Tatsuo; Oide, Takashi; Tsuyuguchi, Toshio; Imazeki, Fumio; Nakatani, Yukio; Yokosuka, Osamu

    2014-01-01

    We report on a woman with hepatic involvement of primary systemic (immunoglobulin light chain, AL) amyloidosis. Her diagnosis was confirmed by liver biopsy. Clinical symptoms of hepatic amyloidosis are generally mild at its first stage, with most frequent findings being hepatomegaly and alkaline phosphatase elevation. Recent advances in the understanding of the pathophysiology of systemic amyloidosis have made several treatments available. However, its prognosis is occasionally poor. Because liver biopsy is not always safe, other modalities for the diagnosis are needed. Of interest was that fluorodeoxyglucose (FDG) uptake into the liver was observed, compared with that into the spleen, in this patient, indicating that FDG positron emission tomography and computed tomography might be useful for the diagnosis of hepatic amyloidosis with mild liver dysfunction. PMID:25018655

  6. 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.

  7. Neonatal Abdominal Hemangiomatosis: Propranolol beyond Infantile Hemangioma

    PubMed Central

    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. PMID:27110421

  8. Ameliorative potential of Tamarindus indica on high fat diet induced nonalcoholic fatty liver disease in rats.

    PubMed

    Sasidharan, Suja Rani; Joseph, Joshua Allan; Anandakumar, Senthilkumar; Venkatesan, Vijayabalaji; Madhavan, Chandrasekharan Nair Ariyattu; Agarwal, Amit

    2014-01-01

    Nonalcoholic fatty liver disease (NAFLD), the prevalence of which is rising globally with current upsurge in obesity, is one of the most frequent causes of chronic liver diseases. The present study evaluated the ameliorative effect of extract of Tamarindus indica seed coat (ETS) on high fat diet (HFD) induced NAFLD, after daily administration at 45, 90, and 180 mg/kg body weight dose levels for a period of 6 weeks, in albino Wistar rats. Treatment with ETS at all tested dose levels significantly attenuated the pathological alterations associated with HFD induced NAFLD viz. hepatomegaly, elevated hepatic lipid and lipid peroxides, serum alanine aminotransferase, and free fatty acid levels as well as micro-/macrohepatic steatosis. Moreover, extract treatment markedly reduced body weight and adiposity along with an improvement in insulin resistance index. The study findings, therefore suggested the therapeutic potential of ETS against NAFLD, acting in part through antiobesity, insulin sensitizing, and antioxidant mechanisms. PMID:24688399

  9. 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

    2016-01-01

    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. PMID:27591041

  10. Typhoid fever: case report and literature review.

    PubMed

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

    2016-01-01

    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. PMID:27392073

  11. Nodular regenerative hyperplasia of the liver in children.

    PubMed

    Moran, C A; Mullick, F G; Ishak, K G

    1991-05-01

    Sixteen cases of nodular regenerative hyperplasia of the liver in children are presented. The patients, 10 girls and 6 boys, were between the ages of 7 months and 13 years, with a median of 6 years. Clinically, nine children presented with hepatomegaly or splenomegaly, with and without signs of portal hypertension. A history of anticonvulsant drug therapy was obtained in four patients. Associated conditions in the remaining three cases were Donohue's syndrome, disseminated intravascular coagulation, and angiomyolipoma of the kidney. In five patients a clinical diagnosis of primary intra-abdominal tumor was made. Follow-up showed that six patients died of causes unrelated to the nodular hyperplasia. Two patients were asymptomatic when last seen 5 and 18 years after the initial diagnosis of nodular hyperplasia. Both patients underwent shunt surgery. No follow-up was available for eight patients. The importance of recognizing this entity in the pediatric age group, as well as its histopathologic differential diagnosis, is stressed. PMID:2035739

  12. 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. PMID:27110421

  13. Use of 3D Ultrasonography in Diagnosing Ovarian Adenocarcinoma in a Common Mynah ( Acridotheres tristis ).

    PubMed

    Vali, Yasamin; Molazem, Mohammad; Madani, Seyed Ahmad

    2015-06-01

    A 12-year-old female common mynah ( Acridotheres tristis ) was examined because of dyspnea and coelomic enlargement. Abdominal radiographs revealed hepatomegaly and a coelomic mass of unknown origin. Both brightness mode (2-dimensional; 2D) and 3-dimensional (3D) ultrasonography were performed to identify the origin of the mass. Ultrasonographic findings distinguished the mass from the liver and revealed high vascularization of the mass and a moderate increase in echogenicity of the liver. Three-dimensional ultrasonographic histogram analysis of the mass was performed. The mynah was treated with supportive care but died after 3 days. Histopathologic examination showed ovarian adenocarcinoma, with concurrent mild to moderate hepatopathy. In diagnostic imaging using ultrasound in birds, 3D ultrasonography allows perspective images of the internal organs to be obtained and is potentially superior to 2D ultrasonography in evaluating irregularly shaped objects. PMID:26115215

  14. [HYPEREOSINOPHILIC SYNDROME ASSOCIATED WITH SEPSIS DUE TO PAECILOMYCES FUNGI DISSEMINATED INTO THE LIVER].

    PubMed

    Akhunov, V M; Akhunova, A M; Lavrent'eva, T P

    2016-01-01

    A 49 year old woman with signs of chronic sepsis, hepatomegaly, and high eosinophil count was under long-term examination including consultations with an oncologist, parasitologist, and hematologist, diagnostic laparotomy, and studies of liver biopsies. Seeding blood samples onto Saburo's medium resulted in the growth of Paecilomyces variotii Bainier colonies. Counting mature spherules of the fungus revealed 59000 spherules per 1 mcl compared with the normal value of 1000-6000 which suggested paecilomycotic etiology of sepsis. The histological study of liver biopsies demonstrated hemorrhagic foci and eosinophilic infiltrates around fungal spherules. The clinical recovery of the patient was achieved after 3 courses of pulsed terbinafine therapy (500 mg/d every other day for 14 days during a month) in combination with vitamins and i/v infusion of 100 ml of a fluconazole solution (2 mg/ml) every third day (10 procedures during a course of therapy). PMID:27459766

  15. 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.

  16. A Rare Cause of Hypereosinophilia: A Case Report.

    PubMed

    Merdin, Alparslan; Ogur, Emine; Çiçek Kolak, Çiğdem; Avcı Merdin, Fatma

    2016-06-01

    Toxocariasis is a parasitic disease caused by the larval stage of Toxocara cati and T. canis, which live in the intestinal system of cats (T. cati) and dogs (T. canis). Infective eggs can enter the gastrointestinal system by the oral route via foods contaminated with feces of dogs or cats or via dirty contaminated hands. The larvae penetrate the small intestine and migrate to visceral organs by systemic circulation. Hypereosinophilia is a common finding in the tissue invasion of parasites. Serological methods are the principle diagnostic methods for toxocariasis. In this study, we reported a toxocariasis patient presented with hypereosinophilia, hepatomegaly, and intestinal involvement. Computed tomography showed diffuse thickening of the ileal bowel loop walls around the umbilicus. Endoscopic ultrasonography revealed an enlarged periduodenal lymph node. Symptoms improved with albendazole treatment with a subsequent flare. PMID:27594294

  17. Schnitzler's syndrome: report of a new case and a review of the literature.

    PubMed

    Puddu, P; Cianchini, G; Girardelli, C R; Colonna, L; Gatti, S; de Pita, O

    1997-01-01

    Schnitzler syndrome is a rare condition characterized by chronic non-pruritic urticaria, recurrent fever, bone pain, osteocondensation, and monoclonal IgM gammopathy without features of lymphoproliferative disease. We describe the case of a 44-year-old man with an 8-year history of bone pain with hyperostosis and a 5-year history of chronic non-pruritic urticaria, associated with fever, hyperleukocytosis, hepatomegaly, serum monoclonal IgM-kappa. Systemic treatment with steroids was effective against bone pain but was ineffective in controlling the urticaria. We also review 35 cases. No adequate treatment has yet been found. The pathogenesis is unclear and the role of the IgM component in the induction of urticaria has not been established. PMID:9093781

  18. Congenital erythropoietic porphyria in an African hedgehog (Atelerix albiventris).

    PubMed

    Wolff, Carlos; Corradini, Paulina; Cortés, Galaxia

    2005-06-01

    A 6-mo-old, male African hedgehog (Atelerix albiventris) presented with a history of pink urine and demonstrating pink-colored teeth and mild hepatomegaly on examination. Urinalysis revealed no physical, chemical, or cellular abnormalities other than a pink color and fluorescence under ultraviolet light (UV). Also under UV, intense fluorescence of teeth, feet, and spines was noted. Porphyria was suspected. Spectrophotometric evaluation of urine showed extremely elevated levels of copro- and uroporphyrins. Analysis of the urine by thin-layer chromatography showed an abnormal pattern of excreted porphyrin intermediates. Urine high-performance thin-layer chromatography showed that excreted porphyrins were 90-95% of the type-I isomeric form, suggestive of congenital erythropoietic porphyria. PMID:17323578

  19. 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. PMID:18256419

  20. 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. PMID:26784526

  1. Kikuchi-Fujimoto disease: a rare but important differential diagnosis for lymphadenopathy

    PubMed Central

    Srikantharajah, Mukunthan; Mahendra, Prem; Vydianath, Bindu; Lowe, Gillian C

    2014-01-01

    A 23-year-old man presented with a 6-week history of fevers, cervical lymphadenopathy and fatigue. A CT of the neck, chest, abdomen and pelvis showed left cervical lymphadenopathy, enlarged lymph nodes in the axilla and groin and hepatomegaly. A left cervical excisional lymph node biopsy was undertaken and the histopathological findings were consistent with Kikuchi-Fujimoto disease. He was treated with high-dose prednisolone for 1 week, which was then tapered. Generalised arthralgia and daily episodes of malaise were experienced for a subsequent 2 months following the cessation of corticosteroids. The condition lasted 4 months from the onset of symptoms. This case report highlights the importance of including Kikuchi-Fujimoto disease as a differential diagnosis for lymphadenopathy. Kikuchi-Fujimoto disease has commonly been mistaken for tuberculosis and lymphoma, and unnecessary exposure to agents used to treat these conditions can be avoided by prompt histological diagnosis. PMID:25199195

  2. 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

  3. 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. PMID:23878456

  4. 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. PMID:23397856

  5. Diagnosis and Surgical Treatment of Hepatic Hydatid Disease

    PubMed Central

    Sözüer, Erdoğan M.

    1994-01-01

    In this report, 226 patients with hydatid disease admitted to the Surgical Department of Erciyes University (Kayseri) and Şişli Etfal Hospital (Istanbul) in Turkey between 1978 and 1990 were reviewed retrospectively. 102 patients (45.1%) were male and 124 (54.9%) female. The most frequent symptom was right upper abdominal pain (66%). The most frequent signs were hepatomegaly (43.8%) and palpable mass (39%). 167 patients (73.9%) were examined with ultrasonography which has a diagnostic value of 94%. Preoperative complications were infection of cyst (7%), intrabiliary rupture (3.5%) and anaphylactic shock (0.4%). Patients were operated on by various techniques; omentoplasty (101), external drainage of residual cavity (64), marsupialization (25), capitonnage (15), introflexion (10), pericystectomy (6), and hepatic resection (5). Main postoperative complications were wound infection (12%) and biliary fistula (2.6%). Total mortality rate was 1.8% in this series. PMID:7880776

  6. [Surgical treatment of 2 cases of irradiation induced constrictive pericarditis].

    PubMed

    Osawa, H; Takahashi, W; Yoshii, S; Hosaka, S; Kaga, S; Fukuda, N; Samuel, A; Nagasaka, S; Miyauchi, Y; Tada, Y

    1999-11-01

    A 72-years-old man underwent radiation therapy (62 Gy) for esophageal carcinoma. Twelve months later, symptoms of heart failure such as syncope, cough and hepatomegaly manifested. On catheter study, a dip and plateau pattern of right ventricular pressure curve was evident. Pericardiectomy without extracorporeal circulation was performed. Operative findings and pathological results were compatible with radiation-induced constrictive pericarditis. He recovered from the heart failure, and has been doing well 3 months after the surgery. A 54-years-old man underwent thymectomy for malignant thymoma. He underwent a radiation therapy (52 Gy) postoperatively. After 12 months from the irradiation, syncope and dyspnea manifested. On catheter study, a dip and plateau pattern of right ventricular pressure curve was observed. Pericardiectomy with extracorporeal circulation was performed. He recovered from the heart failure after pericardiectomy, however he died of radiation-induced pneumonitis 6 months later. PMID:10554496

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

    PubMed

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

    2013-03-01

    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. PMID:23376064

  8. 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. PMID:27605807

  9. Reversible sinusoidal obstruction syndrome associated with tacrolimus following liver transplantation

    PubMed Central

    Shen, Tian; Feng, Xiao-Wen; Geng, Lei; Zheng, Shu-Sen

    2015-01-01

    Sinusoidal obstruction syndrome (SOS), previously known as hepatic veno-occlusive disease, is a rare disorder in solid organ transplant patients, and is an uncommon complication after liver transplantation. Severe SOS with hepatic failure causes considerable mortality. Tacrolimus has been reported to be an offending agent, which potentially plays a role in the pathophysiological process of SOS. SOS due to tacrolimus has been reported in lung and pancreatic transplantations, but has never been described in a liver transplant recipient. Herein, we present a case of SOS after liver transplantation, which was possibly related to tacrolimus. A 27-year-old man developed typical symptoms of SOS with painful hepatomegaly, ascites and jaundice after liver transplantation, which regressed following withdrawal of tacrolimus. By excluding other possible predisposing factors, we concluded that tacrolimus was the most likely cause of SOS. PMID:26034381

  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. Gaucher's disease diagnosed by splenectomy

    PubMed Central

    Adas, Mine; Adas, Gokhan; Karatepe, Oguzhan; Altiok, Merih; Ozcan, Deniz

    2009-01-01

    Context: Splenectomy continues to find common therapeutic indications for hematologic disorders. In addition, recently it is also performed in surgical clinics to assist diagnose of some illnesses. Gaucher's disease, especially Type I, is the most frequently encountered lysosomal storage disorder in man. Manifestations of it are highly variable. The most frequently found symptoms include splenomegaly with anaemia and thrombocytopenia, mostly due to hypersplenism, hepatomegaly and bone disease. Cases: Four patients were reported in the present study. Three of them were easily diagnosed with Gaucher's disease via bone marrow cytology, and one with Gaucher's disease was detected by pathological examination following the splenectomy. Conclusions: For the pouse of diagnosis of the Gaucher's disease, performing surgery is generally not necessary. However, for the cases of difficult to diagnose by classical methods, the corect diagnosis of Gaucher's disease can only be made by a special operation. PMID:22666685

  12. The (re)generation of splenic tissue

    PubMed Central

    Hovius, J W R; Verberne, H J; Bennink, R J; Blok, W L

    2010-01-01

    A 48-year-old man with a history of a traumatic splenic rupture followed by splenectomy at the age of 5 years was referred to the outpatient clinic with markedly elevated liver enzymes. He was diagnosed with alcoholic liver cirrhosis. Ultrasound of the upper abdomen revealed hepatomegaly and suggested a central mass in the liver. Subsequent MRI of the abdomen did not show a hepatic mass, but revealed multiple intraperitoneal and retroperitoneal ovoid structures with a maximum diameter of 3 cm. A peripheral blood smear did not reveal Howell-Jolly bodies suggesting intact splenic function. The diagnosis splenosis—that is, autotransplantation of splenic tissue after iatrogenic/traumatic rupture of the spleen—was considered and confirmed by SPECT-CT with technetium-99m (99mTc) labelled heat-denatured autologous red blood cells. PMID:22778202

  13. 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

  14. Hepatic venous outflow obstruction: Three similar syndromes

    PubMed Central

    Bayraktar, Ulas Darda; Seren, Soley; Bayraktar, Yusuf

    2007-01-01

    Our goal is to provide a detailed review of veno-occlusive disease (VOD), Budd-Chiari syndrome (BCS), and congestive hepatopathy (CH), all of which results in hepatic venous outflow obstruction. This is the first article in which all three syndromes have been reviewed, enabling the reader to compare the characteristics of these disorders. The histological findings in VOD, BCS, and CH are almost identical: sinusoidal congestion and cell necrosis mostly in perivenular areas of hepatic acini which eventually leads to bridging fibrosis between adjacent central veins. Tender hepatomegaly with jaundice and ascites is common to all three conditions. However, the clinical presentation depends mostly on the extent and rapidity of the outflow obstruction. Although the etiology and treatment are completely different in VOD, BCS, and CH; the similarities in clinical manifestations and liver histology may suggest a common mechanism of hepatic injury and adaptation in response to increased sinusoidal pressure. PMID:17461490

  15. Epithelial cells and Von Gierke's disease.

    PubMed

    Negishi, H; Benke, P J

    1977-08-01

    Epithelial cells and not fibroblasts from human liver and amniotic fluid contain inducible glucose-6-phosphatase (G-6-Pase) activity. The diagnosis of Von Gierke's disease has been made in a patient with hepatomegaly utilizing cultured epithelial cells grown from a liver biopsy. G-6-Pase activity in epithelial cells from this patient could not be induced by dibutyryl cyclic AMP and theophylline. This is the first use of epithelial cells for diagnosis of a metabolic disease. G-6-Pase activity in cloned epithelial cells from amniotic fluid increases 2- to 3-fold after 24-hr exposure to dibutyryl cyclic AMP and theophylline. The prenatal diagnosis of Von Gierke's disease may be possible in a laboratory experienced with these techniques if epithelial cell growth is obtained from amniotic fluid. PMID:196249

  16. Regulation of liver metabolism by the endosomal GTPase Rab5.

    PubMed

    Zeigerer, Anja; Bogorad, Roman L; Sharma, Kirti; Gilleron, Jerome; Seifert, Sarah; Sales, Susanne; Berndt, Nikolaus; Bulik, Sascha; Marsico, Giovanni; D'Souza, Rochelle C J; Lakshmanaperumal, Naharajan; Meganathan, Kesavan; Natarajan, Karthick; Sachinidis, Agapios; Dahl, Andreas; Holzhütter, Hermann-Georg; Shevchenko, Andrej; Mann, Matthias; Koteliansky, Victor; Zerial, Marino

    2015-05-12

    The liver maintains glucose and lipid homeostasis by adapting its metabolic activity to the energy needs of the organism. Communication between hepatocytes and extracellular environment via endocytosis is key to such homeostasis. Here, we addressed the question of whether endosomes are required for gluconeogenic gene expression. We took advantage of the loss of endosomes in the mouse liver upon Rab5 silencing. Strikingly, we found hepatomegaly and severe metabolic defects such as hypoglycemia, hypercholesterolemia, hyperlipidemia, and glycogen accumulation that phenocopied those found in von Gierke's disease, a glucose-6-phosphatase (G6Pase) deficiency. G6Pase deficiency alone can account for the reduction in hepatic glucose output and glycogen accumulation as determined by mathematical modeling. Interestingly, we uncovered functional alterations in the transcription factors, which regulate G6Pase expression. Our data highlight a requirement of Rab5 and the endosomal system for the regulation of gluconeogenic gene expression that has important implications for metabolic diseases. PMID:25937276

  17. Familial nephropathy associated with hepatic type of glycogen storage disease.

    PubMed

    Sonobe, H; Ogawa, K; Takahashi, I

    1976-11-01

    The female patient was diagnosed as having Von Gierke's disease at 14 years of age, based on clinical manifestations, laboratory examination and liver biopsy. At 19 years of age she had uremia and died from its deterioration at 24 years of age. The parents were consanguineous, and a 27-year-old sister is presently hospitalized for renal insufficiency with hepatomegaly. On autopsy, the patient's kidneys were highly contracted and contained a number of small cysts, mainly in the medulla. Histological examination indicated periglomerular fibrosis, glomerular hyalinization, tubular atrophy or cystic dilatation and intersitial fibrosis with round cell infiltration. These findings correspond to Fanconi's familial juvenile nephronophthisis, except for age. The liver was markedly enlarged and indicated severe, glycogen deposits, but the kidney did not contain glycogen deposits. It can, therefore, be presumed that the renal lesions were not a secondary consequence of long-term glycogen deposits but that renal and hepatic lesions were associated with each other. PMID:1070908

  18. Ultrasonographic diagnosis of unusual portal vascular abnormalities in two cats.

    PubMed

    McConnell, J F; Sparkes, A H; Ladlow, J; Doust, R; Davies, S

    2006-06-01

    Two cases of ascites secondary to portal vascular abnormalities associated with portal hypertension are described. In the first case a five-month-old cat was presented with recurrent ascites and investigations showed that the underlying cause was a hepatic arteriovenous fistula. Ultrasonography showed direct communication of the coeliac artery and right branch of the portal vein. There was also hepatofugal flow in the main portal vein consistent with portal hypertension. The ultrasonographic features were similar to those seen in dogs with hepatic arteriovenous fistulae. In the second case, ascites, portal hypertension and an intraluminal mass in the main portal vein was diagnosed in a 16-year-old cat that had been presented with hyperthyroidism and hepatomegaly. Acquired portosystemic collaterals involving the left renal vein were present. Additional diagnostic investigations were not permitted. Ultrasonography was useful in both cases to document portal hypertension and the underlying cause. PMID:16761986

  19. 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

  20. 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

  1. Portal hypertension and ascites in extramedullary hematopoiesis.

    PubMed

    Amarapurkar, Pooja; Parekh, Sunil; Amarapurkar, Anjali; Amarapurkar, Deepak

    2012-06-01

    Myeloproliferative diseases (MPD) are clonal stem cell disorders which mainly include polycythemia vera (PV), essential thrombocythemia (ET), and idiopathic myelofibrosis (IMF). They are characterized by leucocytosis, thrombocytosis, erythrocytosis, splenomegaly, and bone marrow hypercellularity. This might also result in extramedullary hematopoiesis. Abdominal manifestation has been recognized as a feature of these disorders. Splenomegaly and hepatomegaly are fairly common as opposed to ascites which is rare. The MPDs mainly affect the hepatic circulatory systems. The common hepatic manifestations are Budd-Chiari syndrome (BCS), portal vein thrombosis (PVT), and nodular regenerative hyperplasia. A few other features seen in MPDs are caused by extramedullary hematopoiesis, increased hepatic blood flow, and secondary hemosiderosis from multiple blood transfusions. Portal hypertension is found in up to 7% of patients. We report a case of portal hypertension with ascites in a patient with extramedullary hematopoiesis treated with transjugular intrahepatic portocaval shunt (TIPS). PMID:25755427

  2. [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. PMID:26943833

  3. Ameliorative Potential of Tamarindus indica on High Fat Diet Induced Nonalcoholic Fatty Liver Disease in Rats

    PubMed Central

    Sasidharan, Suja Rani; Anandakumar, Senthilkumar; Venkatesan, Vijayabalaji; Ariyattu Madhavan, Chandrasekharan Nair; Agarwal, Amit

    2014-01-01

    Nonalcoholic fatty liver disease (NAFLD), the prevalence of which is rising globally with current upsurge in obesity, is one of the most frequent causes of chronic liver diseases. The present study evaluated the ameliorative effect of extract of Tamarindus indica seed coat (ETS) on high fat diet (HFD) induced NAFLD, after daily administration at 45, 90, and 180 mg/kg body weight dose levels for a period of 6 weeks, in albino Wistar rats. Treatment with ETS at all tested dose levels significantly attenuated the pathological alterations associated with HFD induced NAFLD viz. hepatomegaly, elevated hepatic lipid and lipid peroxides, serum alanine aminotransferase, and free fatty acid levels as well as micro-/macrohepatic steatosis. Moreover, extract treatment markedly reduced body weight and adiposity along with an improvement in insulin resistance index. The study findings, therefore suggested the therapeutic potential of ETS against NAFLD, acting in part through antiobesity, insulin sensitizing, and antioxidant mechanisms. PMID:24688399

  4. [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. PMID:26679669

  5. 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.

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

    PubMed Central

    2014-01-01

    Background 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. Methods 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. Results 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. Conclusion 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

  7. ARGININOSUCCINATE LYASE DEFICIENCY: LONGTERM OUTCOME OF 13 PATIENTS DETECTED BY NEWBORN SCREENING

    PubMed Central

    Ficicioglu, C; Mandell, R; Shih, VE

    2009-01-01

    Argininosuccinate lyase deficiency is a urea cycle disorder which can present in the neonatal period with hyperammonemic encephalopathy, or later in childhood with episodic vomiting, growth and developmental delay. Abnormal hair, hepatomegaly, and hepatic fibrosis are unique features of this disorder. Twelve patients with argininosuccinate lyase deficiency were ascertained between 4 and 6 weeks of age by urine amino acid screening. One infant in a previously identified family was diagnosed shortly after birth. Diagnosis was confirmed by enzyme assay in red blood cells and/or skin fibroblasts. At the time of last follow-up, patients had been followed for 13–33 years. All patients were asymptomatic at detection, 7 had slightly increased blood ammonia, and all were initially treated with low-protein diet. Utilization of 14C-citrulline by intact skin fibroblasts measured by 14C incorporation into macromolecules was 74–135% of the control mean for 7 of the 8 patients studied. Nine patients had normal development, 4 had learning disability, 6 had EEG abnormalities, 3 had seizure disorder. None had any episodes of hyperammonemic coma. None had hepatomegaly. Patients detected by screening had higher enzyme activity measured by the 14C-citrulline incorporation assay than comparison groups of patients with neonatal onset and with late onset detected by clinical disease. The ability to utilize 14C-citrulline by intact fibroblasts seems to correlate with clinical outcome and may have prognostic value. It is likely that early diagnosis and treatment contributed to the relatively mild clinical course of the study group. PMID:19635676

  8. [Report of cases of human fascioliosis in the Specialized Children's Health Institute, Lima, Peru (1988'-2003)].

    PubMed

    Marcos, Luis A; Maco, Vicente; Castillo, Maria; Terashima, Angélica; Zerpa, Rito; Gotuzzo, Eduardo

    2005-01-01

    Human fascioliosis is one of the most important parasitic diseases in Peru, due to the high prevalence rates reported in the last few years, mainly in the Andean Trapeze. The most affected group is that of children and the clinical manifestations of the disease can be very varied. In this study we reported seven cases of human fascioliosis diagnosed in the Specialized Children's Health Institute (IESN) Lima, Peru, between 1988 and 2003. From 168 medical histories checked with the final diagnosis of parasitosis, 7 children (2 boys and 5 girls), between 2 and 14 years (average +/- DS: 8.52 +/- 1.43) were diagnosed with fascioliosis by a parasitic and/or serological examinations. Six of the seven cases came from cattle raising areas such as: Cajamarca, Ancash, Huancavelica and Junín. The most frequent clinical signs were prolonged fever (up to 42 days), hepatomegaly, moderate abdominal pain (right hypochondriac region and epigastrium), eosinophils count (between 132 and 8321/mm > or =), anemia (hematocrit up to 15%), jaundice and hypergammaglobulinemia. In some cases the diagnosis was difficult to reach with a delay between 1 and 24 weeks. It should be pointed out that one of these patients had hepatic cirrhosis diagnosed by anatomopathological investigations. Finally, we propose that in pediatric patients coming from endemic areas of animal fasciolosis who have prolonged fever, abdominal pain and hepatomegaly, should be considered suspicious and the infection of eliminated, to avoid hepatic damage caused by this parasite. We conclude that human fascioliosis must not be under-estimated as a secondary parasitic disease in patients coming from endemic areas in Peru. PMID:16021206

  9. [Enzyme replacement therapy in a patient with Pompe disease].

    PubMed

    Fujikawa, Yoshinao; Kinoshita, Satoru; Miyamoto, Yusaku; Nakayama, Tojo; Endo, Yusaku; Sasaki, Masayuki

    2007-09-01

    Pompe disease is a rare autosomal recessive disease caused by the deficiency of acid alpha-glucosidase (GAA), which is required for the degradation of lysosomal glycogen. Glycogen accumulation in heart, muscle and liver eventually leads to muscle weakness, hepatomegaly and cardiomegaly. Although an approved therapy does not exist, the efficacy of enzyme replacement therapy (ERT) has recently been reported in multinational trials in Europe and the US. Here, we present data on the efficacy of recombinant human acid alpha-glucosidase (rhGAA) (provided by Genzyme Corporation) in a patient with Pompe disease. At 5 months of age, motor delay (could not raise his head) and cardiomegaly were observed. A definite diagnosis of Pompe disease was made at 8 months of age after the accumulation of glycogen in a muscle biopsy specimen was observed. This was confirmed by low GAA activity. Since then, motor delay predominated and he was unable to sit independently by age 2.5 years. Every 2 weeks, 20 mg/kg of rhGAA was infused intravenously. To assess the effectiveness, chest X-ray, echocardiography and auditory brain response were recorded. The patient was administered rhGAA for 26 months from 2 years and 8 months of age. Following the initiation of ERT, hepatomegaly and cardiac function (ejection fraction) were rapidly improved and motor function was gradually improved. At 4 years and 10 months, the patient could walk with support. No adverse event has been observed. It can be concluded that ERT with rhGAA is an effective and safe regimen for this case. PMID:17879614

  10. 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

  11. Structure-Activity–Dependent Regulation of Cell Communication by Perfluorinated Fatty Acids using in Vivo and in Vitro Model Systems

    PubMed Central

    Upham, Brad L.; Park, Joon-Suk; Babica, Pavel; Sovadinova, Iva; Rummel, Alisa M.; Trosko, James E.; Hirose, Akihiko; Hasegawa, Ryuichi; Kanno, Jun; Sai, Kimie

    2009-01-01

    Background Perfluoroalkanoates, [e.g., perfluorooctanoate (PFOA)], are known peroxisome proliferators that induce hepatomegaly and hepatocarcinogenesis in rodents, and are classic non-genotoxic carcinogens that inhibit in vitro gap-junctional intercellular communication (GJIC). This inhibition of GJIC is known to be a function of perfluorinated carbon lengths ranging from 7 to 10. Objectives The aim of this study was to determine if the inhibition of GJIC by PFOA but not perfluoropentanoate (PFPeA) observed in F344 rat liver cells in vitro also occurs in F344 rats in vivo and to determine mechanisms of PFOA dysregulation of GJIC using in vitro assay systems. Methods We used an incision load/dye transfer technique to assess GJIC in livers of rats exposed to PFOA and PFPeA. We used in vitro assays with inhibitors of cell signaling enzymes and antioxidants known to regulate GJIC to identify which enzymes regulated PFOA-induced inhibition of GJIC. Results PFOA inhibited GJIC and induced hepatomegaly in rat livers, whereas PFPeA had no effect on either end point. Serum biochemistry of liver enzymes indicated no cytotoxic response to these compounds. In vitro analysis of mitogen-activated protein kinase (MAPK) indicated that PFOA, but not PFPeA, can activate the extracellular receptor kinase (ERK). Inhibition of GJIC, in vitro, by PFOA depended on the activation of both ERK and phosphatidylcholine-specific phospholipase C (PC-PLC) in the dysregulation of GJIC in an oxidative-dependent mechanism. Conclusions The in vitro analysis of GJIC, an epigenetic marker of tumor promoters, can also predict the in vivo activity of PFOA, which dysregulated GJIC via ERK and PC-PLC. PMID:19440492

  12. Predictive symptoms and signs of severe dengue disease for patients with dengue fever: a meta-analysis.

    PubMed

    Zhang, H; Zhou, Y P; Peng, H J; Zhang, X H; Zhou, F Y; Liu, Z H; Chen, X G

    2014-01-01

    The aim of the meta-analysis was to provide more solid evidence for the reliability of the new classification. A systematic literature search was performed using PubMed, Armed Forces Pest Management Board Literature Retrieval System, and Google Scholar up to August 2012. A pooled odds ratio (OR) was calculated using either a random-effect or a fixed-effect model. A total of 16 papers were identified. Among the 11 factors studied, five symptoms demonstrated an increased risk for SDD, including bleeding [OR: 13.617; 95% confidence interval (CI): 3.281, 56.508], vomiting/nausea (OR: 1.692; 95% CI: 1.256, 2.280), abdominal pain (OR: 2.278; 95% CI: 1.631, 3.182), skin rashes (OR: 2.031; 95% CI: 1.269, 3.250), and hepatomegaly (OR: 4.751; 95% CI: 1.769, 12.570). Among the four bleeding-related symptoms including hematemesis, melena, gum bleeding, and epistaxis, only hematemesis (OR: 6.174; 95% CI: 2.66, 14.334; P < 0.001) and melena (OR: 10.351; 95% CI: 3.065, 34.956; P < 0.001) were significantly associated with SDD. No significant associations with SDD were found for gender, lethargy, retroorbital pain, diarrhea, or tourniquet test, whereas headache appeared protective (OR: 0.555; 95% CI: 0.455, 0.676). The meta-analysis suggests that bleeding (hematemesis/melena), vomiting/nausea, abdominal pain, skin rashes, and hepatomegaly may predict the development of SDD in patients with DF, while headache may predict otherwise. PMID:25097856

  13. 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. PMID:27081749

  14. Utilities and Limitations of the World Health Organization 2009 Warning Signs for Adult Dengue Severity

    PubMed Central

    Lye, David C.; Yung, Chee-Fu; Leo, Yee-Sin

    2013-01-01

    Background In 2009, the World Health Organization (WHO) proposed seven warning signs (WS) as criteria for hospitalization and predictors of severe dengue (SD). We assessed their performance for predicting dengue hemorrhagic fever (DHF) and SD in adult dengue. Method DHF, WS and SD were defined according to the WHO 1997 and 2009 dengue guidelines. We analyzed the prevalence, sensitivity (Sn), specificity (Sp), positive predictive value (PPV) and negative predictive value (NPV) of WS before DHF and SD onset. Results Of 1507 cases, median age was 35 years (5th–95th percentile, 17–60), illness duration on admission 4 days (5th–95th percentile, 2–6) and length of hospitalization 5 days (5th–95th percentile, 3–7). DHF occurred in 298 (19.5%) and SD in 248 (16.5%). Of these, WS occurred before DHF in 124 and SD in 65 at median of two days before DHF or SD. Three commonest warning signs were lethargy, abdominal pain/tenderness and mucosal bleeding. No single WS alone or combined had Sn >64% in predicting severe disease. Specificity was >90% for both DHF and SD with persistent vomiting, hepatomegaly, hematocrit rise and rapid platelet drop, clinical fluid accumulation, and any 3 or 4 WS. Any one of seven WS had 96% Sn but only 18% Sp for SD. Conclusions No WS was highly sensitive in predicting subsequent DHF or SD in our confirmed adult dengue cohort. Persistent vomiting, hepatomegaly, hematocrit rise and rapid platelet drop, and clinical fluid accumulation, as well as any 3 or 4 WS were highly specific for DHF or SD. PMID:23350013

  15. Nrf2 Enhances Cholangiocyte Expansion in Pten-Deficient Livers

    PubMed Central

    Taguchi, Keiko; Hirano, Ikuo; Itoh, Tohru; Tanaka, Minoru; Miyajima, Atsushi; Suzuki, Akira

    2014-01-01

    Keap1-Nrf2 system plays a central role in the stress response. While Keap1 ubiquitinates Nrf2 for degradation under unstressed conditions, this Keap1 activity is abrogated in response to oxidative or electrophilic stresses, leading to Nrf2 stabilization and coordinated activation of cytoprotective genes. We recently found that nuclear accumulation of Nrf2 is significantly increased by simultaneous deletion of Pten and Keap1, resulting in the stronger activation of Nrf2 target genes. To clarify the impact of the cross talk between the Keap1-Nrf2 and Pten–phosphatidylinositide 3-kinase–Akt pathways on the liver pathophysiology, in this study we have conducted closer analysis of liver-specific Pten::Keap1 double-mutant mice (Pten::Keap1-Alb mice). The Pten::Keap1-Alb mice were lethal by 1 month after birth and displayed severe hepatomegaly with abnormal expansion of ductal structures comprising cholangiocytes in a Nrf2-dependent manner. Long-term observation of Pten::Keap1-Alb::Nrf2+/− mice revealed that the Nrf2-heterozygous mice survived beyond 1 month but developed polycystic liver fibrosis by 6 months. Gsk3 directing the Keap1-independent degradation of Nrf2 was heavily phosphorylated and consequently inactivated by the double deletion of Pten and Keap1 genes. Thus, liver-specific disruption of Keap1 and Pten augments Nrf2 activity through inactivation of Keap1-dependent and -independent degradation of Nrf2 and establishes the Nrf2-dependent molecular network promoting the hepatomegaly and cholangiocyte expansion. PMID:24379438

  16. [Lysosomal acid lipase deficiency. Overview of Czech patients].

    PubMed

    Elleder, M; Poupĕtová, H; Ledvinová, J; Hyánek, J; Zeman, J; Sýkora, J; Stozický, F; Chlumská, A; Lohse, P

    1999-11-29

    Lysosomal lipase deficiency is a hereditary autosomal recessive enzymopathy leading to lysosomal storage of triacylglycerols (TAG) and cholesterol esters (CE). In particular cells with a permanently high receptor-mediated LDL endocytosis are affected (liver, kidneys). There are two basic phenotypes. The fatal infantile phenotype (Wolman's disease) with generalized storage of both types of apolar lipids. This form was diagnosed in this country only once. The opposite is the protracted, oligosymptomatic form encountered in all age groups. It is characterized by the storage of CE (which gave this entity the name of cholesteryl storage disease--CESD). Its main sign is affection of the liver (hepatomegaly, hepatopathy), which in some instances may lead to organ failure, directly or after cirrhotic transformation. Furthermore there is permanent hypercholesterolaemia (high LDL cholesterol) due to increased VLDL synthesis by hepatocytes, low HDL cholesterol and variably raised TAG. This constellation of blood lipids is a risk factor for the development of atherosclerosis. In the course of 25 years in the Czech Republic 13 cases of CESD were diagnosed in 11 families. Ten of these cases were characterized by clinically manifest hepatopathy with hepatomegaly, detected incidentally during medical examinations (at the age of 2-14 years). In three adult patients with permanent hypercholesterolaemia the storage process was subclinical and the diagnosis was established quite incidentally by examination of non-specific secondary and tertiary manifestations of the disease. The diagnosis was established in all cases of CESD at the tissue level (liver biopsy), at the biochemical (acid lipase deficiency) and molecular genetic level (mutation in enzyme locus). In all instances mutation of G934A was found leading to reduction and loss of the eighth exon. This mutation was present in five patients in a homozygous state. Six mutations were heterozygous. In one instance for technical

  17. Human constitutive androstane receptor (CAR) and pregnane X receptor (PXR) support the hypertrophic but not the hyperplastic response to the murine nongenotoxic hepatocarcinogens phenobarbital and chlordane in vivo.

    PubMed

    Ross, Jillian; Plummer, Simon M; Rode, Anja; Scheer, Nico; Bower, Conrad C; Vogel, Ortwin; Henderson, Colin J; Wolf, C Roland; Elcombe, Clifford R

    2010-08-01

    Mouse nongenotoxic hepatocarcinogens phenobarbital (PB) and chlordane induce hepatomegaly characterized by hypertrophy and hyperplasia. Increased cell proliferation is implicated in the mechanism of tumor induction. The relevance of these tumors to human health is unclear. The xenoreceptors, constitutive androstane receptors (CARs), and pregnane X receptor (PXR) play key roles in these processes. Novel "humanized" and knockout models for both receptors were developed to investigate potential species differences in hepatomegaly. The effects of PB (80 mg/kg/4 days) and chlordane (10 mg/kg/4 days) were investigated in double humanized PXR and CAR (huPXR/huCAR), double knockout PXR and CAR (PXRKO/CARKO), and wild-type (WT) C57BL/6J mice. In WT mice, both compounds caused increased liver weight, hepatocellular hypertrophy, and cell proliferation. Both compounds caused alterations to a number of cell cycle genes consistent with induction of cell proliferation in WT mice. However, these gene expression changes did not occur in PXRKO/CARKO or huPXR/huCAR mice. Liver hypertrophy without hyperplasia was demonstrated in the huPXR/huCAR animals in response to both compounds. Induction of the CAR and PXR target genes, Cyp2b10 and Cyp3a11, was observed in both WT and huPXR/huCAR mouse lines following treatment with PB or chlordane. In the PXRKO/CARKO mice, neither liver growth nor induction of Cyp2b10 and Cyp3a11 was seen following PB or chlordane treatment, indicating that these effects are CAR/PXR dependent. These data suggest that the human receptors are able to support the chemically induced hypertrophic responses but not the hyperplastic (cell proliferation) responses. At this time, we cannot be certain that hCAR and hPXR when expressed in the mouse can function exactly as the genes do when they are expressed in human cells. However, all parameters investigated to date suggest that much of their functionality is maintained. PMID:20403969

  18. 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).

  19. AB143. Berardinelli-Seip congenital lipodystrophy and its diagnostic implications

    PubMed Central

    Muthukumarasamy, Premala; Thong, Meow Keong

    2015-01-01

    Berardinelli-Seip congenital lipodystrophy (BSCLD) (OMIM#269700) is a rare autosomal recessive disorder characterized by marked paucity of adipose tissue, a muscular habitus, insulin resistance, hypertriglyceridemia and hepatic steatosis. It is an anabolic syndrome due to the deficiency of leptin, a lipid modulator, leading to the inappropriate mobilization of fat. Four types of BSCLD have been described based on the site of genetic mutation. Type 2 accounts for an earlier onset, more severe complications and intellectual disability. This is due to the lower leptin levels and the loss of functional seipin in type 2 BSCLD. We report the evolving phenotype of type 2 BSCLD in a boy clinically diagnosed at age 5 months and confirmed by molecular genetic study which revealed a pathogenic mutation in the BSCL2 gene: c.782dupG, p.lle262Hisfs*12homozygous. He is the firstborn of non-consanguineous parents with no significant family history. He has a muscular habitus with a distinct facies, hypertrichosis, absence of subcutaneous fat and hepatomegaly. Investigations revealed hypertriglyceridemia and insulin resistance. A conventional approach to management with dietary fat restriction successfully controlled his biochemical parameters, thus preventing catastrophic complications such as systemic arterial hypertension, heart failure and pancreatitis. Genetic counseling was conferred and prenatal testing recommended for future pregnancies. On follow-up, he had a muscular habitus with hepatomegaly and global developmental delay. Despite early correction of his biochemical parameters, an abdominal ultrasound revealed early onset fatty liver disease and an echocardiogram showed a thickened interventricular septum suggestive of early hypertrophic obstructive cardiomyopathy (HOCM). A fasting serum leptin done was low at 0.8 ng/mL (normal range, 2.0-5.6 ng/mL) confirming leptin deficiency. A leptin analog is now available as an adjunct to mollify the metabolic complications of BSCLD

  20. Pathology of a Bohle-like virus infection in two Australian frog species (Litoria splendida and Litoria caerulea).

    PubMed

    Jerrett, I V; Whittington, R J; Weir, R P

    2015-01-01

    Gross and histopathological examination was performed on seven captive magnificent tree frogs (Litoria splendida) and one green tree frog (Litoria caerulea) that had died or been humanely destroyed while naturally infected with Mahaffey Road virus, a Bohle iridovirus-like ranavirus. Necropsy examination revealed skin lesions consisting of multiple small pale or haemorrhagic papules and ulcers in most frogs. Other common gross findings were perineural haemorrhage affecting the spinal nerves, hydrocoelom, hepatomegaly and splenomegaly with pinpoint pale foci throughout the parenchyma. On histological examination, vasculitis with prominent endothelial necrosis was found in a wide range of tissues. Widespread lymphoid necrosis and fibroblast necrosis were usual findings. Multifocal epithelial cell necrosis in the epidermis, liver and pancreas was found commonly. Non-suppurative meningoencephalitis, myelitis and ganglioneuritis were present variably. Intracytoplasmic basophilic inclusion bodies were found variably in hepatocytes, renal tubular epithelium and keratinocytes. Immunohistochemistry demonstrated ranavirus antigen in endothelial cells, fibroblasts, macrophages, lymphocytes and epithelial cells in a wide range of tissues. The finding of widespread venous and lymphatic endothelial necrosis and demonstration of abundant endothelial antigen suggests that endothelial tropism of the virus plays a significant role in the pathogenesis of the infection. PMID:25678427

  1. Mycobacterium marinum infection in Japanese forest green tree frogs (Rhacophorus arboreus).

    PubMed

    Haridy, M; Tachikawa, Y; Yoshida, S; Tsuyuguchi, K; Tomita, M; Maeda, S; Wada, T; Ibi, K; Sakai, H; Yanai, T

    2014-01-01

    Four Japanese forest green tree frogs (Rhacophorus arboreus) were presented with emaciation, abdominal distention and ulcerative and nodular cutaneous lesions affecting the brisket, limbs, digits and ventral abdomen. Another three frogs had been found dead in the same tank 1 year previously. Necropsy examination of these seven frogs revealed splenomegaly and hepatomegaly, with multiple tan-yellow nodular foci present in the liver, spleen, heart, lungs, ovaries and kidneys. Microscopically, five frogs had necrosis and surrounding granulomatous inflammation in the liver, spleen, kidneys, lungs, intestine and ovaries, with numerous acid-fast bacilli in the areas of necrosis. Two frogs had granulomatous lesions in the lungs, liver, spleen, heart, coelomic membrane, stomach and intestinal wall. These lesions had no or minimal necrosis and few acid-fast bacilli. Mycobacterium spp. was cultured from three frogs and identified as Mycobacterium marinum by colony growth rate and photochromogenicity and DNA sequencing. This is the first report of M. marinum infection in Japanese forest green tree frogs. PMID:25047922

  2. Seven weeks of Western diet in apolipoprotein-E-deficient mice induce metabolic syndrome and non-alcoholic steatohepatitis with liver fibrosis

    PubMed Central

    Schierwagen, Robert; Maybüchen, Lara; Zimmer, Sebastian; Hittatiya, Kanishka; Bäck, Christer; Klein, Sabine; Uschner, Frank E.; Reul, Winfried; Boor, Peter; Nickenig, Georg; Strassburg, Christian P.; Trautwein, Christian; Plat, Jogchum; Lütjohann, Dieter; Sauerbruch, Tilman; Tacke, Frank; Trebicka, Jonel

    2015-01-01

    Non-alcoholic steatohepatitis (NASH) is characterised by hepatic steatosis, inflammation and fibrosis, which might progress to cirrhosis. Human NASH is associated with metabolic syndrome (MS). Currently, rodent NASH models either lack significant fibrosis or MS. ApoE−/− mice are a MS model used in cardiovascular research. The aim of this work was to establish and characterise a novel mouse NASH model with significant fibrosis and MS. ApoE−/− and wild-type mice (wt) were fed either a western-diet (WD), methionine-choline-deficient-diet (MCD) or normal chow. Liver histology, RT-PCR, hepatic hydroxyproline content, triglycerides and cholesterol levels, and fasting glucose levels assessed hepatic steatosis, inflammation and fibrosis. Further, portal pressure was measured invasively, and kidney pathology was assessed by histology. ApoE−/− mice receiving WD showed abnormal glucose tolerance, hepatomegaly, weight gain and full spectrum of NASH including hepatic steatosis, fibrosis and inflammation, with no sign of renal damage. MCD-animals showed less severe liver fibrosis, but detectable renal pathological changes, besides weight loss and unchanged glucose tolerance. This study describes a murine NASH model with distinct hepatic steatosis, inflammation and fibrosis, without renal pathology. ApoE−/− mice receiving WD represent a novel and fast model with all characteristic features of NASH and MS well suitable for NASH research. PMID:26263022

  3. 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

  4. Autoimmune pathogenesis in dengue virus infection.

    PubMed

    Lin, Chiou-Feng; Wan, Shu-Wen; Cheng, Hsien-Jen; Lei, Huan-Yao; Lin, Yee-Shin

    2006-01-01

    The pathogenic mechanisms of dengue hemorrhagic fever and dengue shock syndrome (DHF/DSS) caused by dengue virus (DV) infection remain unresolved. Patients with DHF/DSS are characterized by several manifestations, including severe thrombocytopenia, vascular leakage, and hepatomegaly. In addition to the effect of virus load and virus variation, abnormal immune responses of the host after DV infection may also account for the progression of DHF/DSS. Actually, viral autoimmunity is involved in the pathogenesis of numerous viral infections, such as human immunodeficiency virus, human hepatitis C virus, human cytomegalovirus, herpes simplex virus, Epstein- Barr virus, and DV. In this review, we discuss the implications of autoimmunity in dengue pathogenesis. Antibodies directed against DV nonstructural protein 1 (NS1) showed cross-reactivity with human platelets and endothelial cells, which lead to platelet and endothelial cell damage and inflammatory activation. Based on these findings, we hypothesize that anti-DV NS1 is involved in the pathogenesis of DF and DHF/DSS, and this may provide important information in dengue vaccine development. PMID:16817755

  5. Systemic Mastocytosis Presenting as Acute Appendicitis: A Case Report and Review of the Literature

    PubMed Central

    A. Akbar, Syed; Raza, Shahzad; E. Denney, Jason; J. Johannesen, Eric; C. Doll, Donald

    2013-01-01

    Systemic mastocytosis is characterized by abnormal growth and accumulation of mast cells in various organs. Gastrointestinal (GI) symptoms are common disease manifestations in this disease and can significantly impair the quality of life. Signs of GI systemic mastocytosis include steatorrhea, malabsorption, hepatomegaly, splenomegaly, portal hypertension, and ascites. Acute appendicitis as a presenting feature in systemic mastocytosis has not been reported in the literature previously. In this report, we discuss the case of a female patient with systemic mastocytosis (c-KIT D816V (+)) who was admitted for right-sided acute abdominal pain. Laboratory study revealed an normal white blood cell count with eosinophilia and an elevated serum tryptase level of 23 μg/l. CT of the abdomen and pelvis showed an enlarged appendix of 12 mm in diameter, with minimal wall enhancement. Laparoscopic appendectomy was performed. The appendix was found to be hyperemic and firm, and it was densely adherent to the posterior cecum, the surrounding peritoneal wall, and the overlying mesenteric fat. Pathology revealed acute appendicitis with greater than 30 mast cells per high-power field by immunoperoxidase studies with mast cell tryptase and CD117. The patient subsequently improved and was discharged home. This case is the first reported case with a histological diagnosis of acute appendicitis resulting from mast cell infiltration. Physicians should be aware of acute appendicitis as a manifestation of systemic mastocytosis. Prompt diagnosis and management may prevent potentially fatal complications of appendiceal perforation and peritonitis. PMID:23626557

  6. Yap reprograms glutamine metabolism to increase nucleotide biosynthesis and enable liver growth.

    PubMed

    Cox, Andrew G; Hwang, Katie L; Brown, Kristin K; Evason, Kimberley J; 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

    2016-08-01

    The Hippo pathway is an important regulator of organ size and tumorigenesis. It is unclear, however, how Hippo signalling 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 tumour 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, suppressing 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

  7. 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.

  8. 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.

  9. Hepatic Sinusoidal Obstruction Syndrome Caused by Herbal Medicine: CT and MRI Features

    PubMed Central

    Zhou, Hua; Wang, Yi-Xiang J.; Lou, Hai-yan; Xu, Xiao-jun

    2014-01-01

    Objective To describe the CT and MRI features of hepatic sinusoidal obstruction syndrome (HSOS) caused by herbal medicine Gynura segetum. Materials and Methods The CT and MRI features of 16 consecutive Gynura segetum induced HSOS cases (12 men, 4 women) were analyzed. Eight patients had CT; three patients had MRI, and the remaining five patients had both CT and MRI examinations. Based on their clinical presentations and outcomes, the patients were classified into three categories: mild, moderate, and severe. The severity of the disease was also evaluated radiologically based on the abnormal hepatic patchy enhancement in post-contrast CT or MRI images. Results Ascites, patchy liver enhancement, and main right hepatic vein narrowing or occlusion were present in all 16 cases. Hepatomegaly and gallbladder wall thickening were present in 14 cases (87.5%, 14/16). Periportal high intensity on T2-weighted images was present in 6 cases (75%, 6/8). Normal liver parenchymal enhancement surrounding the main hepatic vein forming a clover-like sign was observed in 4 cases (25%, 4/16). The extent of patchy liver enhancement was statistically associated with clinical severity classification (kappa = 0.565). Conclusion Ascites, patchy liver enhancement, and the main hepatic veins narrowing were the most frequent signs of herbal medicine induced HSOS. The grade of abnormal patchy liver enhancement was associated with the clinical severity. PMID:24643319

  10. Acute necrotizing colitis with pneumatosis intestinalis in an Amazonian manatee calf.

    PubMed

    Guerra Neto, Guilherme; Galvão Bueno, Marina; Silveira Silva, Rodrigo Otavio; Faria Lobato, Francisco Carlos; Plácido Guimarães, Juliana; Bossart, Gregory D; Marmontel, Miriam

    2016-08-01

    On 25 January 2014, a 1 mo old female Amazonian manatee Trichechus inunguis calf weighing 12 kg was rescued by air transport in Guajará, Brazil, and transferred to Mamirauá Institute's Community-based Amazonian Manatee Rehabilitation Center. The calf presented piercing/cutting lesions on the back, neck, and head, in addition to dehydration and intermittent involuntary buoyancy. X-ray analysis revealed a large amount of gases in the gastrointestinal tract. Daily procedures included wound cleaning and dressing, clinical and laboratory monitoring, treatment for intestinal tympanism, and artificial feeding. Adaptation to the nursing formula included 2 kinds of whole milk. Up to 20 d post-rescue the calf presented appetite, was active, and gained weight progressively. Past this period the calf started losing weight and presented constant involuntary buoyancy and died after 41 d in rehabilitation. The major findings at necropsy were pneumatosis intestinalis in cecum and colon, pulmonary edema, and hepatomegaly. The microscopic examination revealed pyogranulomatous and necrohemohrragic colitis with multinucleated giant cells, acute multifocal lymphadenitis with lymphoid depletion in cortical and paramedullary regions of mesenteric lymph nodes, and diffuse severe acinar atrophy of the pancreas. Anaerobic cultures of fragments of cecum and colon revealed colonies genotyped as Clostridium perfringens type A. We speculate that compromised immunity, thermoregulatory failure, and intolerance to artificial diet may have been contributing factors to the infection, leading to enterotoxemia and death. PMID:27503914

  11. 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

  12. 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

  13. [Juvenile xanthogranuloma. Description of a case with liver involvement].

    PubMed

    Di Blasi, A; de Seta, L; Marsilia, G M; Coletta, S; Siani, P; de Rosa, I

    1993-01-01

    Juvenile Xanthogranuloma. Report of a case with hepatic involvement. The Authors present a case of Juvenile Xanthogranuloma (JX) in a 3 months female child with cutaneous and hepatic nodules associated to dyspnea attributable to obstructive bronchopneumopathy. Histologically the lesions are xanthomatous with proliferation of fat-laden histiocytes. The hepatic involvement is characterized by hepatomegaly and yellow nodules on liver surface as seen at laparoscopy. On liver biopsy there is remarkable expansion of portal triad caused by aggregates of large foamy mono-polynuclear histiocytes with Touton giant cells. The cutaneous nodule biopsy shows histiocytic infiltrate in inter-adnexal dermal space with many giant cells holding great lipidic vacuoles. The patient's follow-up is characterized by slow and progressive clinical improvement with resolution of cutaneous, hepatic and pulmonary pathology. The Authors emphasize the differential diagnosis between this systemic form of JX and Langerhans cell Histiocytosis (Histiocytosis X) with multiorgan involvement. This diagnosis is necessary in order to establish therapy and prognosis. PMID:8516025

  14. 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

  15. 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. PMID:26690591

  16. The infantile-onset form of Pompe disease: an autopsy diagnosis

    PubMed Central

    Schultz, Regina

    2015-01-01

    Pompe disease (PD) is a rare, inherited autosomal recessive metabolic disorder caused by the deficiency of the lysosomal acid alpha-glucosidase (GAA) enzyme described in 1932 by the Dutch pathologist Joannes Cassianus Pompe. The prevalence of PD ranges from 1:40,000 to 1:300,000 births and depends on geographic and ethnic factors. Clinical manifestations may vary from a rapidly progressive disabling disease with cardiomegaly, hepatomegaly, weakness, generalized hypotonia, and death within the first year of life, to a mild presentation characterized by slowly progressive myopathy predominantly involving the skeletal muscles. The laboratory diagnostic gold standard is represented by the determination of the alpha-glucosidase activity. However, the muscle histology may also yield the diagnosis by evaluating the tissular glycogen accumulation. Until recently, supportive measures constituted the unique available therapy. Currently, the administration of the recombinant GAA is being used with promising results. The authors present the case of a 5-month-old boy, previously diagnosed with hypertrophic cardiomyopathy since the age of 2 months, who presented acute heart failure accompanied by biventricular dilation followed by refractory shock and death. The autopsy findings confirmed the glycogen-accumulation disease. PMID:26894045

  17. 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

  18. The levels of liver enzymes and atypical lymphocytes are higher in youth patients with infectious mononucleosis than in preschool children

    PubMed Central

    Wang, Yan; Li, Jun; Ren, Yuan-yuan

    2013-01-01

    Background/Aims Infectious mononucleosis (IM) is the clinical presentation of primary infection with Epstein-Barr virus. Although the literature contains a massive amount of information on IM, most of this is related specifically to only children or adults separately. In order to distinguish any differences between preschool children and youth patients, we retrospectively analyzed their demographic and clinical features. Methods Records of patients hospitalized from December 2001 to September 2011 with a diagnosis of IM were retrieved from Peking University First Hospital, which is a tertiary teaching hospital in Beijing. The demographic data and clinical characteristics were collected. Results IM was diagnosed in 287 patients during this 10-year period, with incidence peaks among preschool children (≤7 years old, 130/287, 45.3%) and youth patients (>15 and <24 years old, 101/287, 35.2%). Although the complaints at admission did not differ between these two patient groups, the incidence of clinical signs (tonsillopharyngitis, lymphadenopathy, hepatomegaly, and edema of the eyelids) was much higher in preschool children. The incidence of liver lesion and percentage of atypical lymphocytes were significantly higher in the youth group (P<0.001), and the average hospital stay was longer in this group. Pneumonia was the most common complication, and there was no case of mortality. Conclusions The incidence of IM peaks among preschool children and youth patients in Beijing, China. The levels of liver enzymes and atypical lymphocytes increase with age. PMID:24459643

  19. 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. PMID:26984562

  20. Tuberculous spondylodiscitis in a patient with a sickle-cell disease: CT findings

    PubMed Central

    Krupniewski, Leszek; Palczewski, Piotr; Gołębiowski, Marek; Kosińska-Kaczyńska, Katarzyna

    2012-01-01

    Summary Background: Although sickle-cell anemia (SCA) is common in black Americans, Sub-Saharan Africa and in the Mediterranean area, the disease is rare in the temperate climate zone. The manifestations of the disease are related mainly to the production of abnormal hemoglobin that leads to organ ischemia and increased susceptibility to infection caused by functional asplenia. Case Report: The authors present CT findings in a 39-year-old black woman diagnosed due to abdominal pain, lymphadenopathy and fever. CT of the thorax and abdomen demonstrated changes in the liver, spleen, and skeletal system suggestive of SCA complicated with spondylodiscitis in the thoracic spine. Discussion: Hepatomegaly and small calcified spleen are typical findings in older homozygotic patients with SCA. The lesions in the skeleton may be related either to intramedullary hematopoiesis or osteonecrosis and osteomyelitis. In the latter case, diffuse osteosclerosis and H-shaped vertebrae are most typical. Tuberculous spondylodiscitis is characterized by the location in the thoracic region, preferential involvement of anterior elements, relative sparing of intervertebral discs, and cold abscesses. PMID:22802871

  1. 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

  2. A Prospective Study of Brucellosis in Children: Relative Frequency of Pancytopenia

    PubMed Central

    El-Koumi, Mohamad A; Afify, Mona; Al-Zahrani, Salha H.

    2014-01-01

    Abstract Objective Hematological complications of brucellosis are common. Pancytopenia, although mainly reported in adults, has also been described in children with brucellosis. This investigation was conducted to estimate the relative frequency of pancytopenia in children with brucellosis. Methods The current study was conducted in Al-Khafji Joint Operations Hospital, Saudi Arabia. Sixty patients with brucellosis were enrolled in the study. Complete blood count (CBC) and blood culture were performed for all cases. Bone marrow (BM) aspiration was considered only in those with pancytopenia. Findings Out of 60 children with brucellosis, 50 (83%) ingested raw animal milk and 27 (45%) had a positive family history of brucellosis. The common presenting symptoms and signs included: excessive sweating (68%), bone aches (62%), chills (55%), arthritis (32%), hepatomegaly (18%) and splenomegaly (15%). The main hematological manifestations included: anemia (43%), leukopenia (38%) and leukocytosis (20%). Pancytopenia was detected in 11 (18%) patients. Blood culture for Brucella was positive in 38% (23 patients). B. melitensis from 21 patients was cultured in vitro. Out of 9 BM aspirate cultures, 3 were positive for B. melitensis. Out of 11 patients with pancytopenia, 9 (82%) patients had bone aches and weakness, 7 (64%) patients sweating and chills, 6 (55%) patients petechiae and purpura. Conclusion The current study concludes that although pancytopenia is an uncommon complication of brucellosis in children, it does occur. Therefore, brucellosis should be considered in the differential diagnosis of pancytopenia in children, particularly in endemic areas such as Saudi Arabia. PMID:25535533

  3. T-cell lymphoblastic lymphoma presenting with a breast mass.

    PubMed

    Yumuk, Perran Fulden; Aydiner, Adnan; Topuz, Erkan; Cabioglu, Neslihan; Dogan, Oner

    2004-04-01

    Lymphomas secondarily involving the breast are uncommon, although they do represent the largest group of tumors metastatic to breast. A 20-year-old female with lymphoblastic lymphoma (LBL) presented here with 3 month history of weight loss, night sweats, fatigue and a mass in her left breast. Her physical examination revealed a left breast mass, lympadenopathy, bilateral pleural effusion and hepatomegaly. WBC count was 17,710/mm3 and LDH was mildly elevated. Breast ultrasound showed a 1.7 cm mass in the inner lower quadrant of left breast. Biopsy of the breast mass showed diffuse infiltration with small, round atypical cells which did not stain with CD20, CD43, CD34, cytokeratine and were positive for CD3. She was diagnosed as leukemic phase of a precursor T-cell LBL and treated with 6 cycles of CHOP (cyclophosphamide, doxorubicin, vincristine and prednisone), intrathecal methotrexate and cranial radiotherapy, achieving a complete response. She then was started on maintenance therapy. Four months later she returned with CNS involvement and was started on induction treatment. She had a very aggressive course of disease and died only 12 months after diagnosis. Breast involvement is very rarely seen in precursor T-cell LBL/ALL and in this patient occurred secondarily as part of widespread disease. PMID:15160967

  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. The First Korean Case of Mucopolysaccharidosis IIIC (Sanfilippo Syndrome Type C) Confirmed by Biochemical and Molecular Investigation

    PubMed Central

    Huh, Hee Jae; Seo, Ja Young; Cho, Sung Yoon; Ki, Chang-Seok; Lee, Soo-Youn; Kim, Jong-Won

    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. PMID:23301227

  6. Liver involvement of Langerhans’ cell histiocytosis in children

    PubMed Central

    Yi, Xiaoping; Han, Tong; Zai, Hongyan; Long, Xueying; Wang, Xiaoyi; Li, Wenzheng

    2015-01-01

    Objective: Liver involvement is relatively frequent in children with Langerhans cell histiocytosis (LCH). Its features remain poorly defined. Methods: A retrospective study was carried out on 14 hepatic LCH children in our hospital. The Clinicopathological and radiological features of this disease was discussed. Results: The rate of liver involvement in children LCH patients is 51.9%. Majority of the patients were disseminated cases. Hepatomegaly was clinically confirmed in 11 cases (78.6%). Liver function dysfunction was seen in nine (64.3%) children. The association of multi-modal imaging significantly yielded more diagnostic information. There are some imaging characteristics of this disease, CT and MRI could help to assess the staging, extent of the hepatic lesions. We found that liver involvement had a significant impact on survival. Patients treated with systemic chemotherapy earlier from time of diagnosis had a relatively better outcome. Conclusions: The rate of liver involvement in children LCH patients maybe much higher than that of expected. We suggest that clinical and biological liver evaluation and abdominal imaging must be performed regularly onwards to screen every LCH children patient from the time of the initial diagnosis. Patient should be treated with systemic chemotherapy earlier. PMID:26221247

  7. Reactive macrophage activation syndrome possibly triggered by canakinumab in a patient with adult-onset Still's disease.

    PubMed

    Banse, Christopher; Vittecoq, Olivier; Benhamou, Ygal; Gauthier-Prieur, Maud; Lequerré, Thierry; Lévesque, Hervé

    2013-12-01

    Macrophage activation syndrome (MAS) is a rare and serious complication of adult-onset Still's disease. We describe a case in a 49-year-old woman with Still's disease refractory to glucocorticoids, methotrexate, and infliximab. Anakinra provided satisfactory disease control for 1 year, after which escape phenomenon occurred. After four tocilizumab injections, cutaneous melanoma developed. The persistent systemic manifestations prompted treatment with two canakinumab injections. Ten days later, she had a spiking fever, dyspnea, low back pain, abdominal pain, odynophagia, and hepatomegaly. Laboratory tests showed liver cytolysis (180 IU/L; N: 10-35), acute renal failure (creatinine, 407 μmol/L; N:50-100), thrombocytopenia (60 G/L; N: 150-400), leukocytosis (12,200/mm(3); N: 4000-10,000), hypertriglyceridemia (5070 mmol/L; N: 0.4-1.6), lactate dehydrogenase elevation (4824 IU/L; N: 135-250), and hyperferritinemia (97 761 μg/L; N:15-150). Examination of a bone marrow biopsy showed phagocytosis. Tests were negative for viruses and other infectious agents. Glucocorticoid therapy (1.5 mg/Kg/d) and intravenous polyvalent immunoglobulins (0.5 g/Kg/d) were given. Her condition improved despite the many factors of adverse prognostic significance (thrombocytopenia, absence of lymphadenopathy, and glucocorticoid therapy at diagnosis). This is the first reported case of MAS after canakinumab therapy in a patient with adult-onset Still's disease. PMID:23751410

  8. [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. PMID:26719552

  9. Porcine abortion outbreak associated with Toxoplasma gondii in Jeju Island, Korea

    PubMed Central

    Kang, Kyung-Il; Kang, Wan-Cheul; Sohn, Hyun-Joo; Jean, Young-Hwa; Park, Bong Kyun; Kim, Yongbaek; Kim, Dae-Yong

    2009-01-01

    This report deals with the acute onset of an abortion outbreak and high sow mortality in one pig herd consisted of 1,200 pigs and 120 sows on Jeju Island, Korea. Affected pregnant sows showed clinical signs, including high fever, gradual anorexia, vomiting, depression, recumbency, prostration, abortion, and a few deaths. Four dead sows, five aborted fetuses from the same litter, and 17 sera collected from sows infected or normal were submitted to the Pathology Division of the National Veterinary Research and Quarantine Service for diagnostic investigation. Grossly, hepatomegaly and splenomegaly were observed in sows. Multiple necrotic foci were scattered in the lungs, liver, spleen, and lymph nodes. Microscopically, multifocal necrotizing lesions and protozoan tachyzoites were present in the lesions. Tachyzoites of Toxoplasma (T.) gondii were detected immunohistochemically. Latex agglutination showed that the sera of 7 of 17 (41.2%) sows were positive for antibody to T. gondii. The disease outbreak in this herd was diagnosed as epizootic toxoplasmosis. To our knowledge, this is the first report of porcine toxoplasmosis with a high abortion rate and sow mortality in Korea. PMID:19461210

  10. 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

  11. Systemic mast cell disease with splenic infarction: a case report.

    PubMed

    Maruyama, H; Sugihara, S; Ishihara, K; Sada, K; Tsutsumi, M; Tsujiuchi, T; Nakae, D; Konishi, Y

    1998-05-01

    An autopsy case of systemic mast cell disease (SMCD) without primary skin lesions in a 57-year-old Japanese male is described. Initially the patient was suspected of having liver cirrhosis or malignant lymphoma because of hepatomegaly and lymph node enlargement on admission. However, a lymph node biopsy and bone marrow aspiration conducted on his third admission indicated a SMCD because of the existence of metachromatic cell aggregates stained with toluidine blue. At autopsy, the diagnosis was confirmed because the proliferating cells were histochemically proven to be mast cells by naphthol AS.D chloroacetate esterase, Giemsa and alcian blue, in addition to toluidine blue staining. The intra-abdominal and retroperitoneal lymph nodes were replaced by mast cell aggregates, which caused the splenic infarction and bilateral hydronephrosis, with infiltration of mast cells into the spleen and kidneys also being apparent. Mast cell infiltration was similarly found in the bone marrow, liver, ileum and ascending colon. Immunohistochemically, the mast cells were positive for antibodies of alpha 1-antichymotrypsin, CD45 (LCA), CD43 (MT-1), CD45R (MB-1) and the oncoprotein c-kit. Electron microscopic examination using formalin-fixed tissue gave supportive evidence of a mast cell origin for the lesions. PMID:9704348

  12. 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

  13. Transient tricuspid valve regurgitation following surgical treatment of cor triatriatum dexter in a dog.

    PubMed

    Chanoit, G; Bublot, I; Viguier, E

    2009-05-01

    Echocardiographically documented tricuspid valve regurgitation appeared immediately after surgical treatment of cor triatriatum dexter in a two-month-old rottweiler. Medical treatment was instituted with benazepril, spironolactone and furosemide. Pimobendan was added after five months, and all treatment was discontinued two months later when clinical signs of ascites and hepatomegaly had resolved and tricuspid valve regurgitation was markedly reduced on echocardiography. To the authors' knowledge, this is the first report describing the development and spontaneous improvement of haemodynamically significant tricuspid valve regurgitation following surgical treatment of cor triatriatum dexter in a dog. It is hypothesised that the increase in right atrial volume and pressure following cor triatriatum dexter repair and transient ischaemia of papillary muscles led to dilatation of the right atrioventricular annulus and subsequent severe tricuspid valve regurgitation in the face of an anatomically normal valve. Time and pharmacological preload reduction as well as normalisation of right atrial inflow and subsequent cardiac remodelling substantially reduced tricuspid valve regurgitation and eliminated clinical signs of heart failure. It is also possible that heart recovery has been spontaneous. PMID:19425172

  14. 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

  15. Glutaric aciduria type 2 presenting with acute respiratory failure in an adult.

    PubMed

    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

  16. 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. PMID:26294067

  17. Fascioliasis simulating an intrahepatic cholangiocarcinoma-Case report with imaging and pathology correlation.

    PubMed

    Losada, Héctor; Hirsch, Michael; Guzmán, Pablo; Fonseca, Flery; Hofmann, Edmundo; Alanís, Martín

    2015-02-01

    Human fascioliasis is a rare zoonosis in Chile. Clinically it presents with a highly polymorphous group of symptoms that evolve in two periods. The first, acute or a result of hepatic invasion, lasts 2 weeks to 4 months and is characterized essentially by pain in the right hypochondrium and/or epigastrium, continuous fever and painful hepatomegaly. This clinical picture, associated with eosinophilia and a history of raw watercress consumption, corresponds to the classic presentation of the disease in its initial stage. We report the case of a 57-year-old female patient with no risk factors for and no clinical signs of fascioliasis, with a lesion in the right hepatic lobe compatible with intrahepatic cholangiocarcinoma, studied with computed tomography (CT), magnetic resonance imaging (MRI) and positron emission tomography (PET-CT). With the clinical suspicion of intrahepatic cholangiocarcinoma, a regulated right hepatectomy was performed, the pathological study of which revealed cholangitis and granulomatous pericholangitis resulting from trematode eggs, compatible with Fasciola hepatica. PMID:25713810

  18. Hepatocyte-specific Pten deficiency results in steatohepatitis and hepatocellular carcinomas

    PubMed Central

    Horie, Yasuo; Suzuki, Akira; Kataoka, Ei; Sasaki, Takehiko; Hamada, Koichi; Sasaki, Junko; Mizuno, Katsunori; Hasegawa, Go; Kishimoto, Hiroyuki; Iizuka, Masahiro; Naito, Makoto; Enomoto, Katsuhiko; Watanabe, Sumio; Mak, Tak Wah; Nakano, Toru

    2004-01-01

    PTEN is a tumor suppressor gene mutated in many human cancers, and its expression is reduced or absent in almost half of hepatoma patients. We used the Cre-loxP system to generate a hepatocyte-specific null mutation of Pten in mice (AlbCrePtenflox/flox mice). AlbCrePtenflox/flox mice showed massive hepatomegaly and steatohepatitis with triglyceride accumulation, a phenotype similar to human nonalcoholic steatohepatitis. Adipocyte-specific genes were induced in mutant hepatocytes, implying adipogenic-like transformation of these cells. Genes involved in lipogenesis and β-oxidation were also induced, possibly as a result of elevated levels of the transactivating factors PPARγ and SREBP1c. Importantly, the loss of Pten function in the liver led to tumorigenesis, with 47% of AlbCrePtenflox/flox livers developing liver cell adenomas by 44 weeks of age. By 74–78 weeks of age, 100% of AlbCrePtenflox/flox livers showed adenomas and 66% had hepatocellular carcinomas. AlbCrePtenflox/flox mice also showed insulin hypersensitivity. In vitro, AlbCrePtenflox/flox hepatocytes were hyperproliferative and showed increased hyperoxidation with abnormal activation of protein kinase B and MAPK. Pten is thus an important regulator of lipogenesis, glucose metabolism, hepatocyte homeostasis, and tumorigenesis in the liver. PMID:15199412

  19. Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report.

    PubMed

    Marguet, Florent; Laquerrière, Annie; Goldenberg, Alice; Guerrot, Anne-Marie; Quenez, Olivier; Flahaut, Philippe; Vanhulle, Catherine; Dumant-Forest, Clémentine; Charbonnier, Françoise; Vezain, Myriam; Bekri, Soumeya; Tournier, Isabelle; Frébourg, Thierry; Nicolas, Gaël

    2016-05-01

    We describe the case of a young patient with calcifying encephalopathy, born to asymptomatic parents. An extensive hypothesis-driven etiological assessment was performed and failed to detect the precise etiology during many years. We therefore decided to perform whole exome sequencing of the child-unaffected parents trio. A de novo pathogenic variant in the IFIH1 gene which has recently been shown to cause autosomal dominant forms of Aicardi-Goutières syndrome was identified. This child presented with a severe form with neonatal thrombocytopenia and hepatomegaly, the latter having been detected during late gestation. Although first milestones were uneventful, he progressively lost motor skills from the age of 12 months and developed severe spastic paraplegia. Brain imaging revealed white matter abnormalities and extensive calcifications. He also presented atypical skin lesions, different from chilblains. His medical history was marked by two episodes of acute pancreatitis. We provide herein the results of pathological examination including detailed description of the neuropathological hallmarks. To our knowledge, this the first detailed clinico-pathological description of a patient with an IFIH1 pathogenic variant. © 2016 Wiley Periodicals, Inc. PMID:26833990

  20. Abnormal hepatic function and splenomegaly on the newly diagnosed acute leukemia patients.

    PubMed

    Sharma Poudel, B; Karki, L

    2007-01-01

    To evaluate the liver function, splenomegaly and related factors in the newly diagnosed acute leukemia patients. One hundred of fifty eight acute leukemia patients admitted in our hospital from March 2003 to April 2006 were studied. The related factors such as peripheral WBC count, bone marrow blasts, peripheral blasts, sex, age, AML, ALL affecting the liver function and splenomegaly were evaluated. Sixty two (39.24%) patients presented with splenomegaly. Twelve (7.59%) patients presented with hepatomegaly. Serum ALT was elevated in 54 (34.17%) patients. Similarly, serum AST, GGT, ALP, and Direct bilirubin were elevated in 26 (16.45%), 32 (20.25%), 20 (12.65%), and 22 (13.92%) patients, respectively. Low serum albumin was found in 40 (25.31%) patients. PT was prolonged in 62 (39.24%) patients. Statistical study shows that there is a relation between high WBC counts and elevated serum ALT (P<0.05) and high WBC counts and splenomegaly (P<0.05). Acute leukemia patients with leukocytosis are more prone to develop abnormal liver function and splenomegaly. PMID:18340367

  1. Blastic Phase of CML with Microfilaria: A Rare Case Report.

    PubMed

    Pahwa, Suniti; Saksena, Annapurna; 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

  2. 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. PMID:21654821

  3. 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

  4. 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

  5. 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

  6. 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. PMID:23301227

  7. History of the infantile hepatic hemangioma: From imaging to generating a differential diagnosis

    PubMed Central

    Gnarra, Maria; Behr, Gerald; Kitajewski, Alison; Wu, June K; Anupindi, Sudha A; Shawber, Carrie J; Zavras, Nick; Schizas, Dimitrios; Salakos, Chris; Economopoulos, Konstantinos P

    2016-01-01

    We aim to provide an up-to-date summary of infantile hepatic hemangioma (IHH) and its misnomers and to dialectically present the differential diagnosis of these rare entities of the liver. Eligible peer-reviewed articles on hepatic infantile hemangiomas, published between 2000 and 2015, were reviewed for this study. IHH is the most common hepatic vascular tumor in children. Once a liver mass is identified in an infant, the differential diagnosis ranges from vascular malformations to benign and malignant tumors including mesenchymal hamartoma, hepatoblastoma, metastatic neuroblastoma, so careful physical examination, imaging studies, and, if indicated, tumor markers and biopsy, are of pivotal importance to ascertain the correct diagnosis. Despite the benign nature of IHHs, some of these lesions may demand medical and/or surgical intervention, especially for multiple and diffuse IHH. Complications can include hepatomegaly, hypothyroidism and cardiac failure. Therefore, a close follow-up is required until complete involution of the lesions. We propose an algorithm to guide the physicians towards the proper management of hepatic lesions. PMID:27610342

  8. 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.

  9. Adult T-cell leukemia-lymphoma: a clinico-pathologic study of twenty-six patients from Martinique.

    PubMed

    Plumelle, Y; Pascaline, N; Nguyen, D; Panelatti, G; Jouannelle, A; Jouault, H; Imbert, M

    1993-01-01

    Twenty-six cases of adult T-cell leukemia/lymphoma (ATLL) were identified between 1983 and 1991 in Martinique (French West Indies). There were 14 men and 12 women, all of mixed racial descent and born in Martinique. Their ages ranged from 23 to 95 years. The main clinical and laboratory features at initial presentation were peripheral lymphadenopathy (22 cases), hepatomegaly (11 cases), splenomegaly (10 cases), cutaneous lesions (12 cases), hypercalcemia (16 cases), refractory infection by Strongyloides stercoralis (12 cases), and pre-existing autoimmune disorders (4 cases). All patients had absolute lymphocytosis with circulating pleomorphic abnormal lymphocytes. The prognosis was poor, with most patients (20 cases) surviving for less than 6 months. Although the overall clinicopathologic features of ATLL in this series are similar to those described in previous reports, we observed three additional points of interest: a high association with Strongyloides infection, an increased incidence of tropical spastic paresis/HTLV-1 associated myelopathy (TSP/HAM) among the relatives of the patients (5 cases), and the presence of prior collagen vascular diseases. PMID:8113152

  10. 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. PMID:26086867

  11. P. vivax Malaria and Dengue Fever Co-infection: A Cross-Sectional Study in the Brazilian Amazon

    PubMed Central

    Magalhães, Belisa M. L.; Siqueira, André M.; Alexandre, Márcia A. A.; Souza, Marcela S.; Gimaque, João B.; Bastos, Michele S.; Figueiredo, Regina M. P.; Melo, Gisely C.; Lacerda, Marcus V. G.; Mourão, Maria P. G.

    2014-01-01

    Background Malaria and dengue are the most prevalent vector-borne diseases worldwide and represent major public health problems. Both are endemic in tropical regions, propitiating co-infection. Only few co-infection cases have been reported around the world, with insufficient data so far to enhance the understanding of the effects of co-infection in the clinical presentation and severity. Methodology/Principal Findings A cross-sectional study was conducted (2009 to 2011) in hospitalized patients with acute febrile syndrome in the Brazilian Amazon. All patients were submitted to thick blood smear and PCR for Plasmodium sp. detection, ELISA, PCR and NS1 tests for dengue, viral hepatitis, HIV and leptospirosis. In total, 1,578 patients were recruited. Among them, 176 (11.1%) presented P. vivax malaria mono-infection, 584 (37%) dengue fever mono-infection, and 44 (2.8%) were co-infected. Co-infected patients had a higher chance of presenting severe disease (vs. dengue mono-infected), deep bleeding (vs. P. vivax mono-infected), hepatomegaly, and jaundice (vs. dengue mono-infected). Conclusions/Significance In endemic areas for dengue and malaria, jaundice (in dengue patients) and spontaneous bleeding (in malaria patients) should raise the suspicion of co-infection. Besides, whenever co-infection is confirmed, we recommend careful monitoring for bleeding and hepatic complications, which may result in a higher chance of severity, despite of the fact that no increased fatality rate was seen in this group. PMID:25340346

  12. Primary hepatic lymphoma.

    PubMed

    Padhan, Rajesh Kumar; Das, Prasenjit; Shalimar

    2015-01-01

    Primary hepatic lymphoma (PHL) is a lymphoproliferative disorder confined to the liver without evidence of involvement of spleen, lymph nodes, bone marrow or other lymphoid structures. This is in contrast to Non Hodgkin's Lymphoma (NHL) that often involves the liver as a secondary manifestation. PHL is a rare disease and constitutes 0.016% of all cases of NHL. PHL typically occurs in middle aged men, and usually the chief presenting symptoms are non specific which includes right upper quadrant pain, B symptoms like fever and weight loss and constitutional symptoms. Most frequent physical finding is hepatomegaly which occurs in 75% of patients. Jaundice is rare and present only in less than 5% of patients. Majority of PHL originates from B cells. The blood investigations and imaging findings are nonspecific. Histopathology is essential and confirms the diagnosis. Treatment modalities include combination of surgical resection, chemotherapy and radiotherapy. The prognosis without therapy is grim. The prognosis and management of PHL is different from hepatocellular carcinoma or metastatic disease, hence it is essential to differentiate it from these diseases. The purpose of this review is to emphasize the importance of accurate diagnosis before implementing therapeutic plan for any hepatic space occupying lesion in liver. PMID:26591949

  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. 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. PMID:6825641

  15. 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.

  16. 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

  17. Abdominal computed tomographic scan-merits and demerits over ultrasonography: evaluation of 70 cases.

    PubMed

    Obajimi, M O; Ogunseyinde, A O; Agunloye, A M

    2002-06-01

    Computed tomography (CT) and Ultrasonography (USS) are commonly used to ascertain the cause of abdominal symptoms. In a retrospective study of 70 Nigerian patients who had abdominal ultrasonography prior to abdominal CT scans, the most frequent clinical feature was abdominal pain, which was reported in 20.8% of the patients. The prevalent ultrasonographic finding was hepatomegaly (12.2%) while bowel displacement was the most frequently reported CT finding (18.3%). There was no correlation between USS and CT findings in 11 patients (15.7%). There was some agreement in the findings of both tests in 75.7% of cases. Additional findings were noted in 38 (54.3%) of the latter group of patients on CT scans. Hundred percent agreement was reported in both imaging techniques in 5 radiological findings namely: dilated gall bladder, renal cysts, ascites, adrenal mass and utero-cervical mass. These findings suggest a high yield of diagnostic accuracy from abdominal sonography and increased diagnostic details provided by CT imaging. Our overall impression is that the diagnostic information provided by the two techniques are complimentary. PMID:12518911

  18. 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. PMID:23409434

  19. Human Brucellosis in Macedonia – 10 Years of Clinical Experience in Endemic Region

    PubMed Central

    Bosilkovski, Mile; Krteva, Ljiljana; Dimzova, Marija; Vidinic, Ivan; Sopova, Zaklina; Spasovska, Katerina

    2010-01-01

    Aim To present our 10-year clinical experience with brucellosis patients at the University Clinic for Infectious Diseases and Febrile Conditions in Skopje, Republic of Macedonia. Methods A total of 550 patients with brucellosis treated between 1998 and 2007 were retrospectively assessed for their demographic, epidemiological, and clinical characteristics and outcomes. Results Of the 550 patients, 395 (72%) were male. The median age was 34.5 years (range, 1-82). Direct contact with infected animals was recorded in 333 (61%) patients and positive family history in 310 (56%). The most frequently seen symptoms were arthralgia (438, 80%), fever (419, 76%), and sweating (394, 72%). The most common signs were fever and hepatomegaly, which were verified in 357 (65%) and 273 (50%) patients, respectively. Focal brucellosis was found in 362 patients (66%) and osteoarticular in 299 (54%). Therapeutic failures were registered in 37 (6.7%) patients. Of the 453 (82%) patients who completed a follow-up period of at least 6 months, relapses occurred in 60 (13%). Conclusion Due to non-specific clinical manifestation and laboratory parameters, brucellosis should be considered one of the differential diagnoses of any patient suffering from obscure involvement of various organs in a brucellosis-endemic region. High percentage of relapses and therapeutic failures in spite of the use of currently recommended therapeutic regimens indicates the seriousness of this zoonosis and the need to control it. PMID:20718086

  20. Aggressive Recurrence of Primary Hepatic Epithelioid Haemangioendothelioma after Liver Transplantation

    PubMed Central

    Abdoh, Qusay A.; Abaalkhail, Faisal A.; Al Sebayel, Mohammed; Al-Hussaini, Hussa F.; Helmy, Hazem; Almansour, Mohamad; Elsiesy, Hussien A.

    2016-01-01

    HEHE is a rare neoplasm of vascular origin that occurs in the liver; UNOS reported a favorable outcome after liver transplantation in 110 patients with 1-year and 5-year survival of 80% and 64%. Case Report. A 40-year-old lady presented with a three-month history of right upper abdominal pain with nausea, vomiting, and significant loss of weight associated with scleral icterus and progressive abdominal distension. Examination revealed jaundice, hepatomegaly, and ascites. Serum bilirubin was 26.5 mg/dL and ALP was 552 CT. Abdomen and pelvis showed diffuse infiltrative neoplastic process of the liver with a mass effect and stretching of the hepatic and portal veins, in addition to bile duct dilatation. Viral hepatitis markers were negative and serum alpha fetoprotein was within reference range. Liver biopsy was consistent with HEHE, with positive endothelial markers (CD31, CD34, and factor VIII-related antigen). She underwent living related liver transplantation on June 2013 and was discharged after 20 days with normal liver enzymes. Four months later, she presented with diffuse disease recurrence. Liver biopsy confirmed disease recurrence; she received supportive treatment and unfortunately she died 2 weeks later. Conclusion. HEHE can have rapid and aggressive recurrence after liver transplantation. PMID:27446853

  1. Hepatic Fatty Acid Oxidation Restrains Systemic Catabolism during Starvation.

    PubMed

    Lee, Jieun; Choi, Joseph; Scafidi, Susanna; Wolfgang, Michael J

    2016-06-28

    The liver is critical for maintaining systemic energy balance during starvation. To understand the role of hepatic fatty acid β-oxidation on this process, we generated mice with a liver-specific knockout of carnitine palmitoyltransferase 2 (Cpt2(L-/-)), an obligate step in mitochondrial long-chain fatty acid β-oxidation. Fasting induced hepatic steatosis and serum dyslipidemia with an absence of circulating ketones, while blood glucose remained normal. Systemic energy homeostasis was largely maintained in fasting Cpt2(L-/-) mice by adaptations in hepatic and systemic oxidative gene expression mediated in part by Pparα target genes including procatabolic hepatokines Fgf21, Gdf15, and Igfbp1. Feeding a ketogenic diet to Cpt2(L-/-) mice resulted in severe hepatomegaly, liver damage, and death with a complete absence of adipose triglyceride stores. These data show that hepatic fatty acid oxidation is not required for survival during acute food deprivation but essential for constraining adipocyte lipolysis and regulating systemic catabolism when glucose is limiting. PMID:27320917

  2. Suppression of Hepatocyte Proliferation by Hepatocyte Nuclear Factor 4α in Adult Mice*

    PubMed Central

    Bonzo, Jessica A.; Ferry, Christina H.; Matsubara, Tsutomu; Kim, Jung-Hwan; Gonzalez, Frank J.

    2012-01-01

    Hepatocyte nuclear factor 4α (HNF4α) regulates genes involved in lipid and bile acid synthesis, gluconeogenesis, amino acid metabolism, and blood coagulation. In addition to its metabolic role, HNF4α is critical for hepatocyte differentiation, and loss of HNF4α is associated with hepatocellular carcinoma. The hepatocyte-specific Hnf4a knock-out mouse develops severe hepatomegaly and steatosis resulting in premature death, thereby limiting studies of the role of this transcription factor in the adult animal. In addition, gene compensation may complicate analysis of the phenotype of these mice. To overcome these issues, an acute Hnf4a knock-out mouse model was generated through use of the tamoxifen-inducible ErT2cre coupled to the serum albumin gene promoter. Microarray expression analysis revealed up-regulation of genes associated with proliferation and cell cycle control only in the acute liver-specific Hnf4α-null mouse. BrdU and ki67 staining confirmed extensive hepatocyte proliferation in this model. Proliferation was associated with induction of the hepatomitogen Bmp7 as well as reduced basal apoptotic activity. The p53/p63 apoptosis effector gene Perp was further identified as a direct HNF4α target gene. These data suggest that HNF4α maintains hepatocyte differentiation in the adult healthy liver, and its loss may directly contribute to hepatocellular carcinoma development, thus indicating this factor as a possible liver tumor suppressor gene. PMID:22241473

  3. Clinical differences among PCR-proven dengue serotype infections.

    PubMed

    Limkittikul, Kriengsak; Yingsakmongkon, Sangchai; Jittmittraphap, Akanitt; Chuananon, Somchai; Kongphrai, Yuphin; Kowasupathr, Surasak; Rojanawatsirivit, Chaiyaporn; Mammen, Mammen P; Jampangern, Wipawee

    2005-11-01

    The objective of this study was to compare the clinical spectra of the dengue serotypes proven by the PCR technique. This retrospective study reviewed the clinical information of dengue-infected patients who were admitted to northeastern provincial hospitals in Thailand from June to September 2002. Dengue infection and viral serotypes were confirmed by polymerase chain reaction (PCR). Paired anti-dengue immunoglobulin G (IgG) and IgM from paired sera were analyzed by enzyme-linked immunosorbent assay (ELISA). Ninety-nine PCR-proven dengue-infected Thai patients were studied. Their ages ranged from 3-30 years. They were infected with DEN1, DEN2, DEN3 and DEN4 in 21, 55, 12, and 12%, respectively. Twenty-two percent had primary and 78% had secondary infections. Dengue fever was the most common presentation for both primary (77.2%) and secondary infections (46.7%). The ratios of dengue fever:dengue hemorrhagic fever (DF:DHF) and non-dengue shock syndrome:dengue shock syndrome (non-DSS:DSS) for DEN2 was the lowest of the dengue serotypes. There was no difference in the duration of fever, percentage of hepatomegaly and bleeding among the serotypes in both DF and DHF. The trends in the white blood cells, lymphocyte and atypical lymphocyte counts in DEN3 were the highest, while those of DEN1 were the lowest of the dengue serotypes. PMID:16610645

  4. Wilson disease with thrombocytopenia (case report).

    PubMed

    Zhvania, M; Gogberashvili, K; Gagoshidze, M; Uberi, E

    2014-12-01

    We present an adolescent patient with WD accompanied with secondary amenorrhea, and thrombocytopenia. NK, a 14 year-old girl, had amenorrhea for 5 months despite having had regular menses for 2 years. An abdominal ultrasound scan revealed ascitis and some ovarian cysts. On physical examination: slight jaundice, edema of lower extremities, skin purpuric rash, enlarged abdomen, dry skin. She had no hepatomegaly and no splenomegaly. Breast and pubic hair development was concomitant with Tanner stage 4. There was performed laboratory and instrumental investigations. The patient was diagnosed as WD owing to the low level of ceruloplasmin, with increased level of copper in 24-hour urine excretion and in dry liver tissue. The needle biopsy of liver showed severe hepatocellular necrosis, inflammatory changes and fibrosis. The platelet count was found to be low with lack of increased number of megakaryocytes in the bone marrow aspiration suggesting the thrombocytopenia was not exclusively owing to hypersplenism. The absence of antithrombocyte and other autoimmune and viral antibodies excluded respectively the diagnosis of autoimmune thrombocytopenia, other autoimmune diseases and viral infections. Thus, we support the recommendation that adolescents with amenorrhea or children with thrombocytopenia without any obvious cause should be evaluated for WD, because the early detection and treatment of WD is capable of reversing described changes and restoring a normal liver function. PMID:25617103

  5. Diabetic ketoacidosis with concurrent pancreatitis, pancreatic β islet cell tumor, and adrenal disease in an obese ferret (Mustela putorius furo).

    PubMed

    Phair, Kristen A; Carpenter, James W; Schermerhorn, Thomas; Ganta, Chanran K; DeBey, Brad M

    2011-07-01

    A 5.5-y-old spayed female ferret (Mustela putorius furo) with a history of adrenal disease, respiratory disease, and chronic obesity was evaluated for progressive lethargy and ataxia, diminished appetite, and possible polyuria and polydipsia. Physical examination revealed obesity, lethargy, tachypnea, dyspnea, a pendulous abdomen, significant weakness and ataxia of the hindlimbs, prolonged skin tenting, and mild tail-tip alopecia. Clinicopathologic analysis revealed severe hyperglycemia, azotemia, an increased anion gap, glucosuria, ketonuria, proteinuria, and hematuria. Abdominal ultrasonography showed hyperechoic hepatomegaly, bilateral adrenomegaly, splenic nodules, mild peritoneal effusion, and thickened and mildly hypoechoic limbs of the pancreas with surrounding hyperechoic mesentery. Fine-needle aspirates of the liver were highly suggestive of hepatic lipidosis. In light of a diagnosis of concurrent diabetic ketoacidosis and pancreatitis, the ferret was treated with fluid therapy, regular and long-acting insulin administration, and pain medication. However, electrolyte derangements, metabolic acidosis, dyspnea, and the clinical appearance of the ferret progressively worsened despite treatment, and euthanasia was elected. Necropsy revealed severe hepatic lipidosis, severe suppurative pancreatitis and vacuolar degeneration of pancreatic islet cells, a pancreatic β islet cell tumor, bilateral adrenal cortical adenomas, and myocardial fibrosis. To our knowledge, this case represents the first report of concurrent diabetes mellitus, pancreatitis, pancreatic β islet cell tumor (insulinoma), and adrenal disease in a domestic ferret. The simultaneous existence of 3 endocrine diseases, pancreatitis, and their associated complications is a unique and clinically challenging situation. PMID:21838985

  6. Diabetic Ketoacidosis with Concurrent Pancreatitis, Pancreatic β Islet Cell Tumor, and Adrenal Disease in an Obese Ferret (Mustela putorius furo)

    PubMed Central

    Phair, Kristen A; Carpenter, James W; Schermerhorn, Thomas; Ganta, Chanran K; DeBey, Brad M

    2011-01-01

    A 5.5-y-old spayed female ferret (Mustela putorius furo) with a history of adrenal disease, respiratory disease, and chronic obesity was evaluated for progressive lethargy and ataxia, diminished appetite, and possible polyuria and polydipsia. Physical examination revealed obesity, lethargy, tachypnea, dyspnea, a pendulous abdomen, significant weakness and ataxia of the hindlimbs, prolonged skin tenting, and mild tail-tip alopecia. Clinicopathologic analysis revealed severe hyperglycemia, azotemia, an increased anion gap, glucosuria, ketonuria, proteinuria, and hematuria. Abdominal ultrasonography showed hyperechoic hepatomegaly, bilateral adrenomegaly, splenic nodules, mild peritoneal effusion, and thickened and mildly hypoechoic limbs of the pancreas with surrounding hyperechoic mesentery. Fine-needle aspirates of the liver were highly suggestive of hepatic lipidosis. In light of a diagnosis of concurrent diabetic ketoacidosis and pancreatitis, the ferret was treated with fluid therapy, regular and long-acting insulin administration, and pain medication. However, electrolyte derangements, metabolic acidosis, dyspnea, and the clinical appearance of the ferret progressively worsened despite treatment, and euthanasia was elected. Necropsy revealed severe hepatic lipidosis, severe suppurative pancreatitis and vacuolar degeneration of pancreatic islet cells, a pancreatic β islet cell tumor, bilateral adrenal cortical adenomas, and myocardial fibrosis. To our knowledge, this case represents the first report of concurrent diabetes mellitus, pancreatitis, pancreatic β islet cell tumor (insulinoma), and adrenal disease in a domestic ferret. The simultaneous existence of 3 endocrine diseases, pancreatitis, and their associated complications is a unique and clinically challenging situation. PMID:21838985

  7. Dengue hemorrhagic fever in infants: a study of clinical and cytokine profiles.

    PubMed

    Nguyen, Thanh Hung; Lei, Huan-Yao; Nguyen, Trong Lan; Lin, Yee-Shin; Huang, Kao-Jean; Le, Bich Lien; Lin, Chiou-Feng; Yeh, Trai-Ming; Do, Quang Ha; Vu, Thi Que Huong; Chen, Lien-Cheng; Huang, Jyh-Hsiung; Lam, Thi My; Liu, Ching-Chuan; Halstead, Scott B

    2004-01-15

    A prospective study of clinical and cytokine profiles of 107 infants with dengue hemorrhagic fever (DHF)/dengue shock syndrome (DSS) was conducted. Fever, petechiae on the skin, and hepatomegaly were the most common clinical findings associated with DHF/DSS in infants. DSS occurred in 20.5% of the patients. Hemoconcentration and thrombocytopenia were observed in 91.5% and 92.5% of the patients, respectively. Serologic testing revealed that almost all of the patients (95.3%) had primary dengue virus infections. These data demonstrate that clinical and laboratory findings of DHF/DSS in infants are compatible with the World Health Organization's clinical diagnostic criteria for pediatric DHF. The present study is the first to report evidence of production of cytokines in infants with DHF/DSS and to describe the difference between the cytokine profile of infants with primary dengue virus infections and children with secondary infections. Overproduction of both proinflammatory cytokines (interferon-gamma and tumor necrosis factor-alpha) and anti-inflammatory cytokines (interleukin-10 and -6) may play a role in the pathogenesis of DHF/DSS in infants. PMID:14722886

  8. Disseminated histoplasmosis in acquired immunodeficiency syndrome patients in Uberaba, MG, Brazil.

    PubMed

    Mora, Delio José; dos Santos, Celso Tadeu Barbosa; Silva-Vergara, Mario León

    2008-03-01

    Histoplasmosis occurs in approximately 5% of acquired immunodeficiency syndrome (AIDS) patients in endemic areas and often evolves to a disseminated picture if diagnosis is delayed and/or CD4 count falls below 150 cells x mm(3) without high active antiretroviral therapy (HAART). This report presents clinical features of patients with histoplasmosis admitted from 1992 to 2005. Of the 57 individuals, 45 (79%) were male, aged 20-40 years; 30 (52.6%) presented histoplasmosis together with HIV diagnosis and 35 (61.4%) referred illness course up to 4 weeks. Fever, hepatomegaly and/or splenomegaly, dyspnea and skin lesions were noticed in 50 (87.7%), 38 (66.7%), 30 (52.6%) and 25 (43.9%) patients respectively. High levels of lactic acid dehydrogenase, X-ray lung interstitial pattern, pancytopenia and CD4 count <100 cells x mm(3) were observed in 48 (84.2%), 35 (66%), 34 (59.6%) and 33 (94%) patients respectively. Mycological diagnosis was performed by one or more methods in all patients. Thirty nine (68.4%) received amphotericin B and/or itraconazole. A cure rate was observed in 76.9% and nine (23.1%) died early during therapy. Otherwise death occurred in 18 (31.6%) before diagnosis was completed. Despite free HAART disposal in public Brazilian health services, histoplasmosis still occurs as the first AIDS baseline condition in patients without antiretroviral therapy, many of whom are not receiving any medical care for HIV infection. PMID:18254750

  9. Plasma cholesterol-lowering and transient liver dysfunction in mice lacking squalene synthase in the liver[S

    PubMed Central

    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

    2015-01-01

    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. PMID:25755092

  10. 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. PMID:11021439

  11. A new infantile case of alpha-N-acetylgalactosaminidase deficiency. Cardiomyopathy as a presenting symptom.

    PubMed

    Chabás, A; Duque, J; Gort, L

    2007-02-01

    alpha-N-Acetylgalactosaminidase deficiency is a lysosomal disorder with clinically very different infantile and adult forms. To date, 12 patients from eight families are known. Neuroaxonal dystrophy or moderate psychomotor retardation, without visceral involvement, have been reported in the infantile form. We describe a new Spanish patient with Schindler disease who presented with hepatomegaly and cardiomyopathy, traits not previously associated with this disease. There was no dysmorphism or neurological involvement in the patient, who died at the age of 8 months. alpha-N-Acetylgalactosaminidase activity was reduced in fibroblasts and liver to 1.6% and 0.57% of controls, respectively. Several lysosomal enzyme activities associated with infantile cardiomyopathy were found in the normal ranges. The patient was a compound heterozygote for the novel mutation p.D217N (c.649G>A) in exon 6 and the already reported mutation p.E325K (c.973G>A) in exon 8. The description of this new case broadens the clinical spectrum of the infantile forms and indicates that Schindler disease should be considered in the diagnosis of metabolic cardiomyopathies. PMID:17171432

  12. 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. PMID:12576310

  13. 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. PMID:27041087

  14. Unique morphologic and clinical features of liver predominant/primary small cell carcinoma - autopsy and biopsy case series

    PubMed Central

    Lo, Amy A.; Lo, Edward C.; Li, Haonan; Zhang, Wanying; Liao, Jie; Rao, M. Sambasivia; Miller, Frank; Yang, Guang-Yu

    2014-01-01

    Liver predominant small cell carcinoma is rare, but often presents as hyper-acute liver failure with unknown primary and is a medical emergency. We present 2 autopsy and 7 biopsy cases of liver predominant small cell carcinoma and demonstrate that these patients present with liver failure and identifiable hepatomegaly, but lack discrete lesions on imaging, as well as no mass lesions identified in other organs including lung. Compared to the multiple nodules of metastatic small cell carcinoma in the liver, unique morphologic feature of liver predominant/primary small cell carcinoma in autopsy and biopsy specimens was a diffuse infiltration of small, blue, neoplastic cells predominantly in the sinusoidal space in the liver parenchyma. Prior to diagnosing liver predominant/primary small cell carcinoma, other infiltrating small blue cell neoplasms including lymphoma and peripheral neuroectodermal tumor need to be ruled out through immunohistochemistry (IHC). We therefore demonstrate that liver biopsy together with a rapid panel of immunostains is necessary to firmly establish a diagnosis of liver predominant small cell carcinoma and allow clinicians to immediately implement potentially lifesaving chemotherapy. PMID:24667053

  15. Unique morphologic and clinical features of liver predominant/primary small cell carcinoma--autopsy and biopsy case series.

    PubMed

    Lo, Amy A; Lo, Edward C; Li, Haonan; Zhang, Wanying; Liao, Jie; Rao, M Sambasivia; Miller, Frank; Yang, Guang-Yu

    2014-06-01

    Liver predominant small cell carcinoma is rare but often presents as hyperacute liver failure with unknown primary and is a medical emergency. We present 2 autopsy and 7 biopsy cases of liver predominant small cell carcinoma and demonstrate that these patients present with liver failure and identifiable hepatomegaly but lack discrete lesions on imaging as well as no mass lesions identified in other organs including lung. Compared with the multiple nodules of metastatic small cell carcinoma in the liver, unique morphologic feature of liver predominant/primary small cell carcinoma in autopsy and biopsy specimens was a diffuse infiltration of small blue neoplastic cells predominantly in the sinusoidal space in the liver parenchyma. Before diagnosing liver predominant/primary small cell carcinoma, other infiltrating small blue cell neoplasms including lymphoma and peripheral neuroectodermal tumor need to be ruled out through immunohistochemistry. We, therefore, demonstrate that liver biopsy together with a rapid panel of immunostains is necessary to firmly establish a diagnosis of liver predominant small cell carcinoma and allow clinicians to immediately implement potentially lifesaving chemotherapy. PMID:24667053

  16. 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

  17. 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. PMID:26835382

  18. Dilated cardiomyopathy with Graves disease in a young child.

    PubMed

    Choi, Yu Jung; Jang, Jun Ho; Park, So Hyun; Oh, Jin-Hee; Koh, Dae Kyun

    2016-06-01

    Graves disease (GD) can lead to complications such as cardiac arrhythmia and heart failure. Although dilated cardiomyopathy (DCMP) has been occasionally reported in adults with GD, it is rare in children. We present the case of a 32-month-old boy with DCMP due to GD. He presented with irritability, vomiting, and diarrhea. He also had a history of weight loss over the past few months. On physical examination, he had tachycardia without fever, a mild diffuse goiter, and hepatomegaly. The chest radiograph showed cardiomegaly with pulmonary edema, while the echocardiography revealed a dilated left ventricle with an ejection fraction (EF) of 28%. The thyroid function test (TFT) showed elevated serum T3 and decreased thyroid stimulating hormone (TSH) levels. The TSH receptor autoantibody titer was elevated. He was diagnosed with DCMP with GD; treatment with methylprednisolone, diuretics, inotropics, and methimazole was initiated. The EF improved after the TFT normalized. At follow-up several months later, although the TFT results again showed evidence of hyperthyroidism, his EF had not deteriorated. His cardiac function continues to remain normal 1.5 months after treatment was started, although he still has elevated T3 and high TSH receptor antibody titer levels due to poor compliance with drug therapy. To summarize, we report a young child with GD-induced DCMP who recovered completely with medical therapy and, even though the hyperthyroidism recurred several months later, there was no relapse of the DCMP. PMID:27462586

  19. Pancreatic abnormalities and AIDS related sclerosing cholangitis.

    PubMed Central

    Teare, J P; Daly, C A; Rodgers, C; Padley, S P; Coker, R J; Main, J; Harris, J R; Scullion, D; Bray, G P; Summerfield, J A

    1997-01-01

    OBJECTIVES: Biliary tract abnormalities are well recognised in AIDS, most frequently related to opportunistic infection with Cryptosporidium, Microsporidium, and cytomegalovirus. We noted a high frequency of pancreatic abnormalities associated with biliary tract disease. To define these further we reviewed the clinical and radiological features in these patients. METHODS: Notes and radiographs were available from two centres for 83 HIV positive patients who had undergone endoscopic retrograde cholangiopancreatography for the investigation of cholestatic liver function tests or abdominal pain. RESULTS: 56 patients had AIDS related sclerosing cholangitis (ARSC); 86% of these patients had epigastric or right upper quadrant pain and 52% had hepatomegaly. Of the patients with ARSC, 10 had papillary stenosis alone, 11 had intra- and extrahepatic sclerosing cholangitis alone, and 35 had a combination of the two. Ampullary biopsies performed in 24 patients confirmed an opportunistic infection in 16. In 15 patients, intraluminal polyps were noted on the cholangiogram. Pancreatograms were available in 34 of the 45 patients with papillary stenosis, in which 29 (81%) had associated pancreatic duct dilatation, often with associated features of chronic pancreatitis. In the remaining 27 patients, final diagnoses included drug induced liver disease, acalculous cholecystitis, gall bladder empyema, chronic B virus hepatitis, and alcoholic liver disease. CONCLUSION: Pancreatic abnormalities are commonly seen with ARSC and may be responsible for some of the pain not relieved by biliary sphincterotomy. The most frequent radiographic biliary abnormality is papillary stenosis combined with ductal sclerosis. Images PMID:9389948

  20. Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction.

    PubMed

    Reiner, Željko; Guardamagna, Ornella; Nair, Devaki; Soran, Handrean; Hovingh, Kees; Bertolini, Stefano; Jones, Simon; Ćorić, Marijana; Calandra, Sebastiano; Hamilton, John; Eagleton, Terence; Ros, Emilio

    2014-07-01

    Lysosomal acid lipase deficiency (LAL-D) is a rare autosomal recessive lysosomal storage disease caused by deleterious mutations in the LIPA gene. The age at onset and rate of progression vary greatly and this may relate to the nature of the underlying mutations. Patients presenting in infancy have the most rapidly progressive disease, developing signs and symptoms in the first weeks of life and rarely surviving beyond 6 months of age. Children and adults typically present with some combination of dyslipidaemia, hepatomegaly, elevated transaminases, and microvesicular hepatosteatosis on biopsy. Liver damage with progression to fibrosis, cirrhosis and liver failure occurs in a large proportion of patients. Elevated low-density lipoprotein cholesterol levels and decreased high-density lipoprotein cholesterol levels are common features, and cardiovascular disease may manifest as early as childhood. Given that these clinical manifestations are shared with other cardiovascular, liver and metabolic diseases, it is not surprising that LAL-D is under-recognized in clinical practice. This article provides practical guidance to lipidologists, endocrinologists, cardiologists and hepatologists on how to recognize individuals with this life-limiting disease. A diagnostic algorithm is proposed with a view to achieving definitive diagnosis using a recently developed blood test for lysosomal acid lipase. Finally, current management options are reviewed in light of the ongoing development of enzyme replacement therapy with sebelipase alfa (Synageva BioPharma Corp., Lexington, MA, USA), a recombinant human lysosomal acid lipase enzyme. PMID:24792990

  1. Multidrug resistant citrobacter: an unusual cause of liver abscess

    PubMed Central

    Kumar, Prabhat; Ghosh, Soumik; Rath, Deepak; Gadpayle, A K

    2013-01-01

    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. PMID:23608848

  2. Macrophage activation syndrome in a patient with systemic onset of the juvenile idiopathic arthritis

    PubMed Central

    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. PMID:27407277

  3. [Epidemiologic, clinical and cytohematologic characteristics of adult acute lymphoblastic leukemia in Tunisia].

    PubMed

    Elloumi, Moez; Hafsia, Raouf; el Omri, Halima; Souissi, Taoufik; Hafsia, Aicha; Ennabli, Souad; Ben Abdeladhim, Abdeladhim

    2002-04-01

    Through a national retrospective study, the authors report the clinical and hematological characteristics of 124 acute lymphoblastic leukemia of the adult diagnosed during 5 years (1993-1997). The national prevalence is of 0.28/100.000 inhabitants/year. The sex-ratio is of 1.3. Sixty six per cent of patients were 16-35 years of age, and only 10% of them were more than 60 years of age. A tumoral syndrome was present at 71% of the cases with peripheral adenopathies in 55%, splenomegaly in 40%, hepatomegaly in 19% and a mediastinal tumor in 18% of the cases. The bone pain were rarely signaled (10%) and neuro-meningeal affection was found in only 3% of cases. There was no testicular lesions. The white blood cells count was less than 30.000/mm3 in 60% whereas an important hyperleucocytosis superior than 100.103/mm3 was observed in 20% of the cases. Anemia and thrombopenia were noted in 94% and 90% of the cases respectively. Acute lymphoblastic leukemia typing by cytological study of Bone marrow according to the Fransh-American-Britain criteria (FAB) had found 43%, 48% and 4% for type 1,2 and 3 respectively. In 5% of the cases the type of the acute lymphoblastic leukemia was not precised (diagnosis based on the Bone biopsy). PMID:12416355

  4. Peroxisome induction potential and lipid-regulating activity in rats. Quantitative microscopy and chemical structure-activity relationships.

    PubMed Central

    McGuire, E. J.; Lucas, J. A.; Gray, R. H.; de la Iglesia, F. A.

    1991-01-01

    Structurally diverse lipid-regulating agents induce hepatomegaly, hepatic peroxisome proliferation, and hepatocarcinoma in rats by mechanisms not fully understood. Nevertheless the initial hepatic response is a prompt, florid proliferation of peroxisomes. In investigations reported here, changes in the rat hepatic peroxisome compartment were measured by quantitative microscopy to determine chemical structure requirements that relate to peroxisome proliferation and lipid regulation. Aryloxyalkanoic acids plus amide analogs, and thio, benzimidazole, phenylpiperazine, and oxazole derivatives induced peroxisome proliferation and generally decreased plasma triglyceride and total cholesterol levels. These compounds contain an acidic function or are readily metabolized to a chemical with an acidic function. Substitution of the acidic function with an adamantyloxy eliminated peroxisome proliferation and induced contrasting effects on lipid profile, increasing triglycerides and decreasing total cholesterol. A previously unreported, direct correlation emerged between peroxisome proliferation and plasma high-density lipoprotein-cholesterol levels. These effects could not be elicited separately, negating identification of functional groups that could be associated with either activity. Chemical structure and resulting peroxisome proliferation with changes in plasma lipoproteins are therefore closely interrelated in rats. Images Figure 1 PMID:1853935

  5. 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

  6. Relapse of visceral leishmaniasis after miltefosine treatment in a Nepalese patient.

    PubMed

    Pandey, Basu Dev; Pandey, Kishor; Kaneko, Osamu; Yanagi, Tetsuo; Hirayama, Kenji

    2009-04-01

    We report the first case of visceral leishmaniasis (VL) relapse in a healthy individual after complete miltefosine treatment. The patient attended hospital with a history of fever for 2 months, splenomegaly, hepatomegaly, and weight loss. The case was confirmed as VL by microscopical detection of Leishmania parasites in a bone marrow specimen and by a positive result for the immunochromatography-based test targeting the Leishmania donovani rK39 antibody. A polymerase chain reaction (PCR) specific for the Leishmania kinetoplast minicircle gene was positive, and subsequent sequencing of the PCR-amplified product confirmed that this case was a L. donovani infection. The patient was treated with miltefosine for 28 days, during which time the response was good, and the Leishman-Donovan body (LD body) was negative on discharge. Ten months later, however, this patient again developed high fever and splenomegaly, and LD bodies and rK39 antibody were positive, thus indicating a relapse of VL. The patient was subsequently treated with 1 mg/kg of amphotericin B for a total of 14 days and recovered completely. PMID:19346379

  7. Diagnosis and Surgical Treatment of Hepatic Hydatid Disease

    PubMed Central

    Sözüer, Erdoğan M.

    1992-01-01

    In this report two hundred and twenty six patients with hydatid disease were admitted to the Surgical Department of Erciyes University (Kayseri) and Şişli Etfal Hospital (Istanbul) between 1978 and 1990 and reviewed retrospectively. One hundred and two patients (45.1%) were male and 124 (54.9%) female. In the patients with hydatid cysts the most frequent symptom was right upper abdominal pain (66%). The most frequent signs were hepatomegaly (43.8%) and palpable mass (39%). One hundred and sixty seven patients (73.9%) were examined with ultrasonography which has a diagnostic value of 94%. Preoperative complications were infection of cyst (7%), intrabiliary rupture (3.5%) and anaphylactic shock (0.4%). All patients were operated on by using various surgical techniques; omentoplasty (101), external drainage of residual cavity (64), marsupialization (25), capitonnage (15), introflexion (10), pericystectomy (6), and hepatic resection (5). The main postoperative complications were wound infection (12%) and biliary fistula (2.6%). The total mortality rate was 1.8% in this series. PMID:1467317

  8. Community-Acquired Methicillin-Resistant Pyogenic Liver Abscess: A Case Report.

    PubMed

    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

  9. Deficient activity of dephosphophosphorylase kinase and accumulation of glycogen in the liver

    PubMed Central

    Hug, George; Schubert, William K.; Chuck, Gail

    1969-01-01

    Low activity of phosphorylase and increased concentration of glycogen were found in liver tissue from five children with asymptomatic hepatomegaly. In vitro activation of liver phosphorylase in these patients occurred at the rate of 10% or less of normal. Elimination of the defect by the addition of kinase that activates phosphorylase demonstrated the integrity of the phosphorylase enzyme and the deficient activity of dephophophosphorylase kinase. On the average, 60% of the phosphorylase enzyme of normal human liver was in the active form. Phosphorylase kinase of rabbit muscle activated phosphorylase of normal human liver to a final value that was significantly higher than the one obtained in the absence of muscle phosphorylase kinase. The ultrastructural examination of hepatic tissue from the five patients revealed increased amounts of glycogen. There was scarcity of endoplasmic reticulum. There was intercellular glycogen in continuity with the glycogen of the hepatocytes through breaks in their circumference. Lipid droplets with lucid areas in the form of needles and plates contained aggregates of glycogen. There were numerous lysosomes, some containing glycogen. Large vacuoles filled with glycogen and surrounded by a membrane were seen occasionally. The vacuoles might reflect the lysosomal pathway of glycogen degradation, since there was apparent fusion of such autophagic vacuoles with small vesicles resembling primary lysosomes. Images PMID:5774108

  10. 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