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Hepatomegaly

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https://www.readbyqxmd.com/read/29333010/sinusoidal-obstruction-syndrome-during-treatment-for-wilms-tumor-a-life-threatening-complication
#1
Sidharth Totadri, Amita Trehan, Deepak Bansal, Richa Jain
Context: Survival rates exceed 90% in Wilms' tumor (WT). Actinomycin-D (ACT-D) which is indispensable in the management of WT is associated with the development of sinusoidal obstruction syndrome (SOS), a potentially fatal complication. Aims: The aim is to study the presentation, management, and outcome of SOS complicating ACT-D administration in WT. Settings and Design: Retrospective file review conducted in a Pediatric Hematology-Oncology unit...
October 2017: Indian Journal of Medical and Paediatric Oncology
https://www.readbyqxmd.com/read/29332587/lysosomal-acid-lipase-deficiency-could-dyslipidemia-drive-the-diagnosis
#2
Ornella Guardamagna
LAL-deficiency (LAL-D) is a rare and systemic condition, secondary to LIPA gene mutations, responsible for lysosomal accumulation of cholesteryl esters and triglycerides, whose manifestations are very heterogeneous in terms of age of onset, severity and type of clinical and radiological manifestations. Dyslipidemia, hepatomegaly and hepatosteatosis with increased levels of transaminases are the most common features. The increased risk of premature atherosclerosis and cardiovascular disorders,, secondary to a generalized alteration of lipid profile and lipoprotein dysfunction associated with LAL-D, has been increasingly pointed out...
January 11, 2018: Current Pediatric Reviews
https://www.readbyqxmd.com/read/29326879/characteristics-of-26-patients-with-type-3-gaucher-disease-a-descriptive-analysis-from-the-gaucher-outcome-survey
#3
Ida Vanessa D Schwartz, Özlem Göker-Alpan, Priya S Kishnani, Ari Zimran, Lydie Renault, Zoya Panahloo, Patrick Deegan
The Gaucher Outcome Survey (GOS) is an international disease-specific registry established in 2010 for patients with a confirmed diagnosis of Gaucher disease (GD), regardless of GD type or treatment status. Historically, there has been a limited understanding of type 3 GD (GD3) and its natural history in patients irrespective of their treatment status. Here, we describe the disease characteristics of patients with GD3 enrolled in GOS. As of October 2015, 1002 patients had been enrolled, 26 of whom were reported as GD3...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29326798/late-onset-hepatic-veno-occlusive-disease-after-allografting-report-of-two-cases-with-atypical-clinical-features-successfully-treated-with-defibrotide
#4
Alessia Castellino, Stefano Guidi, Chiara Maria Dellacasa, Antonella Gozzini, Irene Donnini, Chiara Nozzoli, Sara Manetta, Semra Aydin, Luisa Giaccone, Moreno Festuccia, Lucia Brunello, Enrico Maffini, Benedetto Bruno, Ezio David, Alessandro Busca
Hepatic Veno-Occlusive Disease (VOD) is a potentially severe complication of hematopoietic stem cell transplantation (HSCT). Here we report two patients receiving an allogeneic HSCT who developed late onset VOD with atypical clinical features. The two patients presented with only few risk factors, namely, advanced acute leukemia, a myeloablative busulphan-containing regimen and received grafts from an unrelated donor. The first patient did not experience painful hepatomegaly and weight gain and both patients showed only a mild elevation in total serum bilirubin level...
2018: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/29324951/signs-and-symptoms-in-gaucher-disease-priority-nursing-diagnoses
#5
Márcia Koja Breigeiron, Vitória da Costa Moraes, Janice Carneiro Coelho
OBJECTIVE: Identify the signs and symptoms of patients with Gaucher Disease, inferring possible priority nursing diagnoses. METHOD: Cross-sectional study, developed in a specialized laboratory, between 2013 and 2015. The sample (n = 91) comprised the records of patients with genetic diagnosis for Gaucher Disease. The study respected research norms. RESULTS: Prevalence of female sex (57.1%), age at diagnosis between 0 and 10 years, and origin from the Southeast Region of Brazil were prevalent...
January 2018: Revista Brasileira de Enfermagem
https://www.readbyqxmd.com/read/29316914/differential-induction-of-malaria-liver-pathology-in-mice-infected-with-plasmodium-chabaudi-as-or-plasmodium-berghei-nk65
#6
Diletta Scaccabarozzi, Katrien Deroost, Yolanda Corbett, Natacha Lays, Paola Corsetto, Fausta Omodeo Salè, Philippe E Van den Steen, Donatella Taramelli
BACKGROUND: Cerebral malaria and severe anaemia are the most common deadly complications of malaria, and are often associated, both in paediatric and adult patients, with hepatopathy, whose pathogenesis is not well characterized, and sometimes also with acute respiratory distress syndrome (ARDS). Here, two species of murine malaria, the lethal Plasmodium berghei strain NK65 and self-healing Plasmodium chabaudi strain AS which differ in their ability to cause hepatopathy and/or ARDS were used to investigate the lipid alterations, oxidative damage and host immune response during the infection in relation to parasite load and accumulation of parasite products, such as haemozoin...
January 9, 2018: Malaria Journal
https://www.readbyqxmd.com/read/29302509/a-novel-homozygous-lipa-mutation-in-a-korean-child-with-lysosomal-acid-lipase-deficiency
#7
Kwang Yeon Kim, Ju Whi Kim, Kyung Jae Lee, Eunhyang Park, Gyeong Hoon Kang, Young Hun Choi, Woo Sun Kim, Jung Min Ko, Jin Soo Moon, Jae Sung Ko
Patients with lysosomal acid lipase (LAL) deficiency and glycogen storage disease (GSD) demonstrated hepatomegaly and dyslipidemia. In our case, a 6-year-old boy presented with hepatosplenomegaly. At 3 years of age, GSD had been diagnosed by liver biopsy at another hospital. He showed elevated serum liver enzymes and dyslipidemia. Liver biopsy revealed diffuse microvesicular fatty changes in hepatocytes, septal fibrosis and foamy macrophages. Ultrastructural examination demonstrated numerous lysosomes that contained lipid material and intracytoplasmic cholesterol clefts...
December 2017: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/29297975/clinical-characteristics-and-treatment-of-pyrrolizidine-alkaloid-related-hepatic-vein-occlusive-disease
#8
Yuzheng Zhuge, Yi Wang, Feng Zhang, Chengkai Zhu, Wei Zhang, Ming Zhang, Qibin He, Jian Yang, Jian He, Jun Chen, Xiaoping Zou
BACKGROUND AND AIMS: Hematopoietic stem cell transplantation related hepatic vein occlusive disease (HSCT-HVOD) has been researched extensively; however, little is known about the clinical features and treatment of pyrrolizidine alkaloid-induced HVOD (PA-HVOD). This retrospective single center study examined the clinical and laboratory characteristics of 108 patients with acute PA-HVOD and explored the efficacy of anticoagulation and TIPS therapy. METHODS: The study included 108 consecutive patients with PA-HVOD between July 2008 and June 2016...
January 3, 2018: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/29296723/atg-vs-thiotepa-with-busulfan-and-cyclophosphamide-in-matched-related-bone-marrow-transplantation-for-thalassemia
#9
Lawrence Faulkner, Cornelio Uderzo, Sadaf Khalid, Priya Marwah, Rajpreet Soni, Naila Yaqub, Samina Amanat, Itrat Fatima, Sarah Khan Gilani, Tatheer Zahra, Stalin Ramprakash, Lallindra Gooneratne, Ruwangi Dissanayake, Senani Williams, Wasantha Rathnayake, Reshma Srinivas, Amit Sedai, Ankita Kumari, Lailith Parmar, Rakesh Dhanya, Rajat Kumar Agarwal
Matched-related bone marrow transplantation (BMT) may cure >80% of low-risk children with severe thalassemia (ST). Very long-term follow-up studies have shown how the standard busulfan-cyclophosphamide (BuCy) regimen may be associated with normalization of health-related quality of life, no second malignancies in the absence of chronic graft-versus-host disease, and fertility preservation in many patients. However, because BuCy may be associated with high rejection rates, some centers incorporate thiotepa (Tt) in busulfan- or treosulfan-based regimens, a combination that may increase the risk of permanent infertility...
May 23, 2017: Blood Advances
https://www.readbyqxmd.com/read/29285715/gene-mutations-and-clinical-phenotypes-in-15-chinese-children-with-cryopyrin-associated-periodic-syndrome-caps
#10
Caifeng Li, Xiaohua Tan, Junmei Zhang, Shipeng Li, Wenxiu Mo, Tongxin Han, Weiying Kuang, Yifang Zhou, Jianghong Deng
The aim of our study is to explore the features of clinical manifestations and genetic mutations in Chinese CAPS patients. Fifteen confirmed patients with CAPS were enrolled. The onset time ranges from 2 days after birth to 6 years and 1 month. Recurrent urticaria rash (93.3%) with fever (100%) were two dominant characteristics of these patients that were presented as either acute or chronic process. Systemic involvements were found in all patients except for one with only rash and fever. The top three symptoms were fever (100%), rash (93...
December 2, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/29285688/pancreatoblastoma-an-unusual-diagnosis-in-an-adult-patient
#11
Gonçalo Nunes, Hélder Coelho, Marta Patita, Rita Barosa, Pedro Pinto Marques, Lídia Roque Ramos, Maria José Brito, Aurora Tomaz, Jorge Fonseca
The authors describe a 31-year-old man admitted due to progressive weight loss, diarrhea and massive hepatomegaly. Laboratory data showed anemia (haemoglobin 11.7 g/dl), abnormal liver tests (total bilirubin 1.4 g/dl, aspartate aminotransferase 70 U/l, alanine aminotransferase 37 U/l and alkaline phosphatase 520 U/l). Abdominal ultrasound (US) displayed a large heterogeneous liver with a segment IV 25 mm nodule. Magnetic resonance revealed a 4 cm pancreatic tail mass and several liver nodules consistent with metastasis...
December 28, 2017: Clinical Journal of Gastroenterology
https://www.readbyqxmd.com/read/29285598/diagnosis-of-budd-chiari-syndrome
#12
Morgane Van Wettere, Onorina Bruno, Pierre-Emmanuel Rautou, Valérie Vilgrain, Maxime Ronot
Budd-Chiari syndrome (BCS) is defined by clinical and laboratory signs associated with partial or complete impairment of hepatic venous drainage in the absence of right heart failure or constrictive pericarditis. Primary BCS is the most frequent type and is a complication of hypercoagulable states, in particular myeloproliferative neoplasms. Secondary BCS involves tumor invasion or extrinsic compression. Most patients present with chronic BCS including a non-cirrhotic, dysmorphic, chronic liver disease with various degrees of fibrosis deposition...
December 28, 2017: Abdominal Radiology
https://www.readbyqxmd.com/read/29279489/a-case-of-glycogenic-hepatopathy-in-type-1-diabetes-mellitus
#13
Shohei Asada, Hideto Kawaratani, Tsuyoshi Mashitani, Daisuke Kaya, Maiko Nishigori, Takuya Kubo, Yasuhiko Sawada, Yukihisa Fujinaga, Kosuke Kaji, Mitsuteru Kitade, Tadashi Namisaki, Kei Moriya, Akira Mitoro, Hitoshi Yoshiji
Glycogenic hepatopathy (GH) is a rare complication of poorly controlled type 1 diabetes mellitus (T1DM), and is characterized by elevated liver enzymes, hepatomegaly, and glycogen accumulation. We herein present the case of a 23-year-old man with poorly controlled T1DM who had liver dysfunction. Imaging studies showed severe hepatomegaly and fatty liver. The examination of a liver biopsy specimen revealed fatty droplets, ballooning, inflammation, and mild fibrosis. Subsequent PAS staining after diastase digestion confirmed GH...
December 27, 2017: Internal Medicine
https://www.readbyqxmd.com/read/29276875/drug-reaction-with-eosinophilia-and-systemic-symptoms-in-a-child-on-multiple-antiepileptics
#14
Jyotindra Narayan Goswami, Pankaj C Vaidya, Arushi Gahlot Saini, Dipankar De, Bishan Dass Radotra, Pratibha D Singhi
Goswami JN, Vaidya PC, Saini AG, De D, Radotra BD, Singhi PD. Drug reaction with eosinophilia and systemic symptoms in a child on multiple antiepileptics. Turk J Pediatr 2017; 59: 197-199. Drug reaction with eosinophilia and systemic symptoms (DRESS) is an adverse drug-reaction that may mimic systemic illnesses and have a fulminant presentation. We describe an 8-year-old girl with epilepsy and exposure to multiple anti-epileptics who presented with fever, extensive maculopapular rash, cervical lymphadenopathy, hepatomegaly, progressive anemia and transaminitis...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29276215/deletion-of-both-p62-and-nrf2-spontaneously-results-in-the-development-of-nonalcoholic-steatohepatitis
#15
Kentaro Akiyama, Eiji Warabi, Kosuke Okada, Toru Yanagawa, Tetsuro Ishii, Katsumi Kose, Katsutoshi Tokushige, Kazunori Ishige, Yuji Mizokami, Kenji Yamagata, Kojiro Onizawa, Shun-Ichi Ariizumi, Masakazu Yamamoto, Junichi Shoda
Nonalcoholic steatohepatitis (NASH) is one of the leading causes of chronic liver disease worldwide. However, details of pathogenetic mechanisms remain unknown. Deletion of both p62/Sqstm1 and Nrf2 genes spontaneously led to the development of NASH in mice fed a normal chow and was associated with liver tumorigenesis. The pathogenetic mechanism(s) underlying the NASH development was investigated in p62:Nrf2 double-knockout (DKO) mice. DKO mice showed massive hepatomegaly and steatohepatitis with fat accumulation and had hyperphagia-induced obesity coupled with insulin resistance and adipokine imbalance...
December 25, 2017: Experimental Animals
https://www.readbyqxmd.com/read/29250698/genetic-disorder-in-carbohydrates-metabolism-hereditary-fructose-intolerance-associated-with-celiac-disease
#16
Daniela Păcurar, Gabriela Leşanu, Irina Dijmărescu, Iulia Florentina Ţincu, Mihaela Gherghiceanu, Dumitru Orăşeanu
Celiac disease (CD) has been associated with several genetic and immune disorders, but association between CD and hereditary fructose intolerance (HFI) is extremely rare. HFI is an autosomal recessive disease caused by catalytic deficiency of aldolase B (fructose-1,6-bisphosphate aldolase). We report the case of a 5-year-old boy suffering from CD, admitted with an initial diagnosis of Reye's-like syndrome. He presented with episodic unconsciousness, seizures, hypoglycemia, hepatomegaly and abnormal liver function...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/29246491/impact-of-loss-of-soat2-function-on-disease-progression-in-the-lysosomal-acid-lipase-deficient-mouse
#17
Adam M Lopez, Jen-Chieh Chuang, Stephen D Turley
Although only a small proportion of cholesterol in the body is esterified, in several diseases marked expansion of the esterified cholesterol (EC) pool occurs. These include Wolman disease (WD) and Cholesteryl Ester Storage Disease (CESD) which both result from mutations in LIPA, the gene that encodes lysosomal acid lipase (LAL). The respective contributions that our three cholesterol esterifying enzymes make to EC production, especially in disorders like CESD, are not well defined. The current studies represent a detailed exploration of our earlier findings in young male LAL-deficient mice also missing sterol-O-acyltransferase 2 (SOAT2, also called ACAT2)...
December 12, 2017: Steroids
https://www.readbyqxmd.com/read/29246298/alleviation-of-toxicity-caused-by-overactivation-of-ppar%C3%AE-through-ppar%C3%AE-inducible-mir-181a2
#18
Yanjie Cheng, Zhuying Wei, Shengsong Xie, You Peng, Yi Yan, Dan Qin, Shenghui Liu, Yanling Xu, Guangpeng Li, Lisheng Zhang
Widely varied compounds, including certain plasticizers, hypolipidemic drugs (e.g., ciprofibrate, fenofibrate, WY-14643, and clofibrate), agrochemicals, and environmental pollutants, are peroxisome proliferators (PPs). Appropriate dose of PPs causes a moderate increase in the number and size of peroxisomes and the expression of genes encoding peroxisomal lipid-metabolizing enzymes. However, high-dose PPs cause varied harmful effects. Chronic administration of PPs to mice and rats results in hepatomegaly and ultimately carcinogenesis...
December 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/29235540/characteristic-dysmorphic-features-in-congenital-disorders-of-glycosylation-type-iib
#19
Yoon-Myung Kim, Go Hun Seo, Euiseok Jung, Ja-Hyun Jang, Sook Za Kim, Beom Hee Lee
Over 100 types of congenital disorders of glycosylation (CDG) have been reported and the number is rapidly increasing. However, each type is very rare and is problematic to diagnose. Mannosyl-oligosaccharide glucosidase (MOGS)-CDG (CDG type IIb) is an extremely rare CDG that has only been reported in three patients from two unrelated families. Using targeted exome sequencing, we identified another patient affected by this condition. This patient had increased serum trisialotransferrin levels. Importantly, a review of the features of all four patients revealed the recognizable clinical hallmarks of MOGS-CDG...
December 13, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29234937/-lysosomal-acid-lipase-deficiency-lal-d-diagnostic-and-therapeutic-options-in-an-underdiagnosed-disease
#20
REVIEW
S Synoracki, S Kathemann, K W Schmid, H Jastrow, H A Baba
BACKGROUND AND CLINICAL SETTING: Lysosomal acid lipase deficiency is an autosomal recessive storage disease caused by mutations in the LIPA gene. The accumulation of cholesteryl esters and triglycerides in hepatocytes lead to hepatomegaly with progressive fibrosis and liver cirrhosis. Characteristically, patients have a hepatomegaly combined with high serum levels of cholesterol, LDL-cholesterol and in some cases triglyceride, whereas HDL-cholesterol is decreased. Histologically, hepatocytes show a microvesicular steatosis with typically ballooned Kupffer cells...
December 12, 2017: Der Pathologe
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