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https://www.readbyqxmd.com/read/29773783/cholesteryl-ester-storage-disease-fatal-outcome-without-causal-therapy-in-a-female-patient-with-the-preventable-sequelae-of-progressive-liver-disease-after-many-years-of-mild-symptoms
#1
Ali Canbay, Meike N Müller, Stathis Philippou, Guido Gerken, Andreas Tromm
BACKGROUND Cholesteryl ester storage disease (CESD), also known as lysosomal acid lipase deficiency (LAL-D), is a rare autosomal-recessive inheritable lysosomal storage disease. Since 2015, a causal treatment with sebelipase alfa, which replaces the missing LAL enzyme, has been approved. We report a fatal course of LAL-D in a female patient. CASE REPORT In 1979, CESD was first diagnosed in a 13-year-old female with marked hepatomegaly. At that time, no specific treatment for CESD was available and the spontaneous course of the disease had to be awaited...
May 18, 2018: American Journal of Case Reports
https://www.readbyqxmd.com/read/29773145/pathological-and-molecular-characterization-of-systemic-isosporosis-atoxoplasmosis-in-captive-green-winged-saltator-saltator-similis
#2
Ayisa Rodrigues de Oliveira, Tayse Domingues de Souza, Juliana P S Mol, Mayra Cunha Flecher, Emy Hiura, Renato Lima Santos
Systemic isosporosis, also called atoxoplasmosis or visceral coccidiosis, is a disease that affects birds in general. Pathogenesis of systemic isosporosis and its etiologic agent have not been well characterized, but taxonomically Atoxoplasma is currently considered a junior objective synonym of Isospora. The present report aimed to describe pathological and molecular findings of systemic isosporosis in captive green-winged saltators (Saltator similis) from the State of Espírito Santo, Brazil. In a commercial breeding facility eleven birds with two to nine months of age died from 2015 to 2016...
May 15, 2018: Veterinary Parasitology
https://www.readbyqxmd.com/read/29771124/genistein-ameliorates-non-alcoholic-fatty-liver-disease-by-targeting-thromboxane-a2-pathway
#3
Wenzhe Wang, Junliang Chen, Jinyan Mao, Hongling Li, Mingfu Wang, Hao Zhang, Haitao Li, Wei Chen
Non-alcoholic fatty liver disease (NAFLD) is now a public health issue worldwide, but no drug has received approval yet. Genistein, an isoflavonoid derived from soybean, ameliorates high fat diet-induced NAFLD in mice, but the molecular underpinnings remain largely elusive. Arachidonic acid is a major ingredient of animal fats, and arachidonic acid cascade has been implicated in chronic inflammation. In this study, we investigated whether genistein against NAFLD by targeting arachidonic acid cascade. By using a mouse model, we showed that genistein supplementation improved high-fat diet induced NAFLD by normalizing hepatomegaly, liver steatosis, aminotransferase abnormalities and glucose tolerance...
May 17, 2018: Journal of Agricultural and Food Chemistry
https://www.readbyqxmd.com/read/29768547/clinical-outcomes-and-risk-factors-for-death-from-disseminated-histoplasmosis-in-patients-with-aids-who-visited-a-high-complexity-hospital-in-campo-grande-ms-brazil
#4
Barbara Cristina Scarcelli Boigues, Anamaria Mello Miranda Paniago, Gláucia Moreira Espíndola Lima, Maina de Oliveira Nunes, Silvia Naomi de Oliveira Uehara
INTRODUCTION: Disseminated histoplasmosis (DH) is a systemic mycosis caused by Histoplasma capsulatum (H. capsulatum) and is characterized by progressive and fatal evolution in immunocompromised patients. Moreover, it is considered an AIDS-defining disease. METHODS: We performed an observational, analytical, retrospective study to identify the clinical outcomes and risk factors for death from DH in patients with AIDS at an infectious diseases service facility in Brazil between September 2011 and July 2016...
March 2018: Revista da Sociedade Brasileira de Medicina Tropical
https://www.readbyqxmd.com/read/29761167/phenotypic-spectrum-and-diagnostic-pitfalls-of-abcb4-deficiency-depending-on-age-of-onset
#5
Stephanie Barbara Schatz, Christoph Jüngst, Verena Keitel-Anselmo, Ralf Kubitz, Christina Becker, Patrick Gerner, Eva-Doreen Pfister, Imeke Goldschmidt, Norman Junge, Daniel Wenning, Stephan Gehring, Stefan Arens, Dirk Bretschneider, Dirk Grothues, Guido Engelmann, Frank Lammert, Ulrich Baumann
Genetic variants in the adenosine triphosphate-binding cassette subfamily B member 4 ( ABCB4 ) gene, which encodes hepatocanalicular phosphatidylcholine floppase, can lead to different phenotypes, such as progressive familial intrahepatic cholestasis (PFIC) type 3, low phospholipid-associated cholelithiasis, and intrahepatic cholestasis of pregnancy. The aim of this multicenter project was to collect information on onset and progression of this entity in different age groups and to assess the relevance of this disease for the differential diagnosis of chronic liver disease...
May 2018: Hepatology Communications
https://www.readbyqxmd.com/read/29755847/-18-f-fdg-pet-ct-findings-in-hepatosplenic-gamma-delta-t-cell-lymphoma-case-reports-and-review-of-the-literature
#6
Michael W Cho, Bennett B Chin
Hepatosplenic Gamma Delta T cell lymphoma (γδHSTL) is a rare, highly aggressive, and rapidly lethal T cell lymphoma which manifests 18 F-FDG PET/CT findings that can mimic benign conditions. Patients with γδHSTL present with unexplained symptoms of a hematologic malignancy like the B symptoms of lymphoma including weight loss, fevers, and night sweats, as well as, splenomegaly and hepatomegaly. Thrombocytopenia, anemia, or neutropenia are also common due to spleen, liver and bone marrow involvement. The peripheral blood, however, typically does not show abnormal T cells...
2018: American Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/29750741/hemophagocytic-lymphohystiocytosis-associated-with-type-ia-glycogen-storage-disease
#7
Yeter Düzenli Kar, Zeynep C Özdemir, Eylem Kiral, Gonca Kiliç Yildirim, Ener Ç Dinleyici, Özcan Bör
BACKGROUND: Hemophagocytic lymphohystiocytosis (HLH) is characterized by fever, splenomegaly, pancytopenia, and elevated levels of triglycerides and ferritin. These signs and symptoms are common to other metabolic diseases. OBSERVATION: A 5-month-old female infant, who presented with fever, respiratory distress, massive hepatomegaly, and bicytopenia, was diagnosed as having HLH and chemotherapy was initiated. The patient was negative for familial HLH gene mutations...
May 10, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29747315/-value-of-pet-ct-in-the-prognosis-of-extranodal-nk-t-cell-lymphoma
#8
G H Dong, Y Li, H F Wan, C Y He, L Yang, J W Wang, L P Gong, Y H Zhao, Z F Gao, H G Liu
Objective: To explore the value of Positron-Emission Tomography/Computed Tomography (PET/CT) in the prognosis of extranodal NK/T cell lymphoma. Methods: The patients of NK/T cell lymphoma diagnosed from January 2007 to July 2016 in Department of Pathology of Beijing Tongren Hospital were enrolled in this study. Seventy-two in-hospital patients were examined on the invasion of adjecent tissue or organ by PET/CT. The PET/CT results were analyzed retrospectively. Kaplan-Meier method was used to analyze the prognostic value of the positive results by PET/CT on overall survival (OS)...
April 24, 2018: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/29746378/acute-encephalitis-syndrome-in-gorakhpur-uttar-pradesh-2016-clinical-and-laboratory-findings
#9
Mahima Mittal, Vijay Bondre, Manoj Murhekar, Hirawati Deval, Winsley Rose, Valsan Philip Verghese, Mahim Mittal, Gajanan Patil, R Sabarinathan, Jeromie Wesley Vivian Thangaraj, K Kanagasabai, John Antony Jude Prakash, Nivedita Gupta, Manish Gupte, Mohan D Gupte
BACKGROUND: Seasonal outbreaks of acute encephalitis syndrome (AES) with high fatality have been occurring in Gorakhpur, Uttar Pradesh, India for several years. We conducted investigations during the 2016 outbreak, to identify the etiology. METHODS: We included 407 hospitalized AES patients with CSF pleocytosis (>5 cells/cmm) in our study. These patients were clinically examined; their blood and CSF samples were collected and investigated for scrub typhus (ST), Japanese encephalitis virus (JEV), dengue virus and spotted fever group of rickettsia (SFGR) by serology and/or PCR...
May 9, 2018: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/29739345/atypical-central-retinal-artery-occlusion-as-the-first-presentation-of-poems-syndrome-a-case-report
#10
Panitha Jindahra, Charungthai Dejthevaporn, Pimjai Niparuck, Jariya Waisayarat, Piyaphon Cheecharoen, Thanatporn Threetong, Purit Petpiroon, Tharikarn Sujirakul, Anuchit Poonyathalang, Kavin Vanikieti
BACKGROUND: POEMS syndrome is a plasma cell disorder, which clinically manifests from paraneoplastic syndrome: polyneuropathy, organomegaly, endocrinopathy, monoclonal plasma cell disorder, and skin changes. The most common ocular manifestation is optic disc swelling, whereas other ocular manifestations; cystoid macular edema, serous macular detachment, venous sinus thrombosis, infiltrative orbitopathy, uveitis, neovascularization of the disc, peripapillary choroidal neovascularization and optic disc drusen, had also been reported...
May 8, 2018: BMC Neurology
https://www.readbyqxmd.com/read/29735868/ultrasound-measurement-of-liver-longitudinal-length-in-a-north-anatolian-population-a-community-based-study
#11
Zafer Özmen, Fatma Aktaş, Zeliha Cansel Özmen, Eda Almus, Osman Demir
Background: Liver size can be influenced by various factors, including malignant diseases, infective processes, and anthropometric variations among individuals from different geographical locations and races. Therefore, the exact definition of hepatomegaly in the ultrasonographic measurement of liver size is controversial. Moreover, the majority of studies regarding the study of liver size are not community-based. Aims: The aim of this study is to establish a range of normal liver sizes by ultrasonography with respect to age and sex in healthy individuals and to identify factors affecting liver size...
May 2018: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/29724164/signs-symptoms-and-treatment-patterns-across-serial-ambulatory-cardiology-visits-in-patients-with-heart-failure-insights-from-the-ncdr-pinnacle%C3%A2-registry
#12
Larry A Allen, Fengming Tang, Philip Jones, Tracie Breeding, Angelo Ponirakis, Stuart J Turner
BACKGROUND: Due to a relative lack of outpatient heart failure (HF) clinical registries, we aimed to describe symptoms, signs, and medication treatment among ambulatory patients with heart failure (HF) over time. METHODS: Using health records from 234 PINNACLE (Practice Innovation and Clinical Excellence) U.S. cardiology practices (2008-2014), serial visits for patients with HF were characterized. Symptoms, signs, and HF medications (angiotensin-converting enzyme inhibitors [ACEI], angiotensin receptor blockers [ARB], beta blockers [BB], and diuretics) were compared between visits...
May 3, 2018: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/29721915/clinical-biochemical-and-molecular-overview-of-transaldolase-deficiency-and-evaluation-of-the-endocrine-function-update-of-34-patients
#13
M Williams, V Valayannopoulos, R Altassan, W K Chung, A C Heijboer, W T Keng, R Lapatto, P McClean, M F Mulder, A Tylki-Szymańska, M J E Walenkamp, M Alfadhel, H Alakeel, G S Salomons, W Eyaid, M M C Wamelink
BACKGROUND: Transaldolase deficiency (TALDO-D) is a rare autosomal recessive inborn error of the pentose phosphate pathway. Since its first description in 2001, several case reports have been published, but there has been no comprehensive overview of phenotype, genotype, and phenotype-genotype correlation. METHODS: We performed a retrospective questionnaire and literature study of clinical, biochemical, and molecular data of 34 patients from 25 families with proven TALDO-D...
May 2, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29718219/xenobiotic-nuclear-receptor-signaling-determines-molecular-pathogenesis-of-progressive-familial-intrahepatic-cholestasis
#14
Kang Ho Kim, Jong Min Choi, Feng Li, Armando Arizpe, Clavia Ruth Wooton-Kee, Sayeepriyadarshini Anakk, Sung Yun Jung, Milton J Finegold, David D Moore
Progressive familial intrahepatic cholestasis (PFIC) is a genetically heterogeneous disorder of bile flow disruption due to abnormal canalicular transport or impaired bile acid (BA) metabolism, causing excess BA accumulation and liver failure. We reported an intrahepatic cholestasis mouse model based on loss of function of both farnesoid X receptor (FXR; NR1H4) and small heterodimer partner (SHP, NR0B2) (DKO), which has strong similarities to human PFIC type 5. Here, we compare the pathogenesis of the DKO liver to that of another intrahepatic cholestasis model, Bsep-/-, which represents human PFIC2...
April 26, 2018: Endocrinology
https://www.readbyqxmd.com/read/29714031/an-uncommon-presentation-of-alcoholic-liver-disease
#15
Jordi Gratacós-Ginès, Gerhard Jung, Alba Díaz, Xavier Forns
A 28-year-old man with previous medical history of chronic alcohol intake (>100g/day) was admitted into the hospital with jaundice and asthenia since the last 2 weeks. His alcohol consume had increased lately. Except for jaundice, physical examination was non relevant. Laboratory tests indicated: ASAT/ALAT 936/100 UI/L, Total bilirubin 26 mg/dl (predominantly direct), GGT 1021 UI/L, AP 327 UI/L, total cholesterol 335 mg/dl, triglycerides 515 mg/dl, platelet count 86x10^12/L, INR 1.74; white blood cell count and creatinine levels were normal...
April 30, 2018: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/29713215/magnetic-resonance-venography-findings-of-obstructed-hepatic-veins-and-the-inferior-vena-cava-in-patients-with-budd-chiari-syndrome
#16
Ru-Xin Song, Shi-Feng Cai, Shuang Ma, Zhi-Ling Liu, Yong-Hao Gai, Chun-Qing Zhang, Guang-Chuan Wang
Objective: This study aimed to illustrate the magnetic resonance venography (MRV) manifestations of obstructed hepatic veins (HVs), the inferior vena cava (IVC), and accessory hepatic veins (AHVs) in patients with Budd-Chiari syndrome (BCS) and to evaluate the visualization capacity of MRV in the diagnosis of BCS. Materials and Methods: Fifty-two patients with chronic BCS were included in this study. All patients were examined via MRV performed with a 3T system following injections of gadolinium-diethylene triamine pentaacetic acid (Gd-DTPA) or Gd-ethoxibenzyl-DTPA...
May 2018: Korean Journal of Radiology: Official Journal of the Korean Radiological Society
https://www.readbyqxmd.com/read/29712669/proliferation-independent-role-of-nf2-merlin-in-limiting-biliary-morphogenesis
#17
Samira Benhamouche-Trouillet, Evan O'Loughlin, Ching-Hui Liu, William Polacheck, Julien Fitamant, Mary McKee, Nabeel El-Bardeesy, Christopher S Chen, Andrea I McClatchey
The architecture of individual cells and cell collectives enables functional specification, a prominent example being the formation of epithelial tubes that transport fluid or gas in many organs. The intrahepatic bile ducts (IHBDs) form a tubular network within the liver parenchyma that transports bile to the intestine. Aberrant biliary 'neoductulogenesis' is also a feature of several liver pathologies including tumorigenesis. However, the mechanism of biliary tube morphogenesis in development or disease is not known...
April 30, 2018: Development
https://www.readbyqxmd.com/read/29709965/a-multicenter-study-of-clinical-presentations-and-predictive-factors-for-severe-manifestation-of-dengue-in-adults
#18
Saranya Temprasertrudee, Vipa Thanachartwet, Varunee Desakorn, Jiraporn Keatkla, Wasun Chantratita, Sasisopin Kiertiburanakul
Severe dengue is more prevalent in adults than in children. Our objectives were to determine the clinical presentations of dengue in adults and to identify predictive factors for severe dengue. A retrospective cohort study was performed in adults with dengue, as confirmed by positive NS1 antigen. Patients were classified into non-severe and severe dengue. A total of 357 patients were enrolled; 45.4% were male, with median (interquartile range, IQR) age of 27.9 (21.8-43.5) years. In all, 28.3% of patients had warning signs and 10...
April 27, 2018: Japanese Journal of Infectious Diseases
https://www.readbyqxmd.com/read/29709217/glycogenic-hepatopathy
#19
Johad Khoury, Yaniv Zohar, Naim Shehadeh, Tarek Saadi
BACKGROUND: Glycogenic hepatopathy (GH) is a disorder associated with uncontrolled diabetes mellitus, most commonly type 1, expressed as right upper quadrant abdominal pain, hepatomegaly and increased liver enzymes. The diagnosis may be difficult, because laboratory and imaging tests are not pathognomonic. Although GH may be suggested based on clinical presentation and imaging studies, the gold standard for diagnosis is a liver biopsy, showing a significant accumulation of glycogen within the hepatocytes...
April 2018: Hepatobiliary & Pancreatic Diseases International: HBPD INT
https://www.readbyqxmd.com/read/29707081/efficacy-and-safety-of-entecavir-0-5-mg-in-treating-naive-chronic-hepatitis-b-virus-patients-in-egypt-five-years-of-real-life-experience
#20
Sahar Maklad, Ehab Mahfouz Reyad, Emad Adel William, Alaa Abouzeid
Background: The aim of the study was to evaluate the efficacy and safety of entecavir (ETV) among chronic hepatitis B (CHB) nucleos(t)ide-naive Egyptian patients. Methods: Forty-eight CHB patients on ETV were included. Males comprised 83.3% (40 cases), while females comprised 16.7% (eight cases). Minimum age was 19 years, while maximum age was 64 years. Hepatitis B envelope antigen (HBeAg)-negative cases were 60.4%. HBeAg-positive cases were 39.6%. Factors including sex, positive HBeAg, baseline hepatitis B virus (HBV) DNA level, baseline alanine aminotransferase (ALT) and aspartate aminotransferase (AST), were evaluated in terms of their predictive role in treatment response, which was defined as a serum HBV DNA decrease of < 10 IU/mL...
April 2018: Gastroenterology Research
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