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https://www.readbyqxmd.com/read/29783935/identification-of-a-novel-nonsense-mutation-in-the-unc13d-gene-from-a-patient-with-hemophagocytic-lymphohistiocytosis-a-case-report
#1
Xijiang Hu, Dongling Liu, Xiwen Jiang, Bo Gao, Changying Chen
BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a heterogeneous and potentially fatal disease that presents symptoms of persistent fever, splenomegaly and cytopenia. Primary HLH is identified as an autosomal recessive disorder with causative genes including HPLH1, PRF1, UNC13D, STX11 and STXBP2. CASE PRESENTATION: Here, we reported an 8-month-old female patient with compound heterozygosity in the UNC13D gene. The patient, who presented typical symptoms, was diagnosed with HLH based on HLH-2004 guidelines...
May 21, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29781346/distribution-characteristics-of-cells-in-splenomegaly-due-to-hepatitis-b-related-cirrhotic-portal-hypertension-and-their-clinical-importance
#2
Xiaoyu Han, Yunfu Lv, Yejuan Li, Jie Deng, Qingan Qiu, Ning Liu, Shuya Zhao, Caixian Liao
Objectives To investigate peripheral cytopenia in patients with splenomegaly due to hepatitis B-related cirrhotic portal hypertension (HBRCPH) by comparing blood cell counts from enlarged spleens with peripheral blood. Methods This prospective study involved patients undergoing splenectomy at the Nangfang Hospital from June 2013 to December 2015. Blood cell counts from peripheral blood were compared with those from splenic blood taken during splenectomies. Results Clinical data were available from 30 patients...
January 1, 2018: Journal of International Medical Research
https://www.readbyqxmd.com/read/29780012/epidemiological-clinical-and-laboratory-evaluation-of-plasmodium-falciparum-malaria-cases-followed-in-firat-university-hospital-a-6-year-retrospective-analysis
#3
Ayşe Sağmak Tartar, Ayhan Akbulut
OBJECTIVE: Malaria is an infectious disease caused by Plasmodium parasite. Sporadic cases have not been observed in Turkey since 2010, but imported malaria cases are still prevalent owing to migration. The present study aimed to evaluate Plasmodium falciparum malaria in patients hospitalized in our hospital. METHODS: A total of 15 adult patients (14 males and 1 female) who were diagnosed with malaria and who were managed at our clinic between January 2011 and 2017 were evaluated retrospectively for their epidemiological, clinical, and laboratory findings; treatment; and prognosis...
March 2018: Türkiye Parazitolojii Dergisi
https://www.readbyqxmd.com/read/29779347/-clinical-analysis-of-70-chronic-lymphocytic-leukemia-patients-with-trisomy-12-detected-by-fish
#4
R Lyu, Z J Li, H Li, S H Yi, W Liu, T Y Wang, W J Xiong, L G Qiu
Objective: To summarize and investigate the characteristics, prognosis and treatments of chronic lymphocytic leukemia (CLL) patients with trisomy 12 by using FISH (CEP12). Methods: Clinical data of 330 CLL patients were analyzed retrospectively by using FISH (CEP12) to detect trisomy 12 from May 2003 to April 2015. The clinical data and laboratory characteristics of CEP12 positive patients (70 cases) were compared with those CEP12 negative patients (260 cases). Results: Compared with CEP12 negative CLL patients, the proportion of hepatomegaly (13...
May 14, 2018: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/29779325/-comparison-of-hemolytic-characteristics-among-paroxysmal-nocturnal-hemoglobinuria-autoimmune-hemolytic-anemia-and-hereditary-spherocytosis
#5
W W Li, J Shi, Z D Huang, N Nie, Y Q Shao, X X Li, M L Ge, J Zhang, J B Huang, P Jin, M Wang, Y Z Zheng
Objective: To determine the valuable hemolytic characteristics in differential diagnosis of paroxysmal nocturnal hemoglobinuria (PNH), autoimmune hemolytic anemia (AIHA) and hereditary spherocytosis (HS). Method: The clinical and hemolytic characteristics of 108 PNH patients, 127 AIHA patients and 172 HS patients diagnosed from January 1998 to April 2017 were compared. Results: ①Reticulocyte percentage (Ret%) of PNH patients [6.70% (0.14%-22.82%)] was significantly lower than that of AIHA [14.00%(0.10%-55...
April 14, 2018: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/29774664/the-lupus-associated-fc%C3%AE-riib-i232t-polymorphism-results-in-impairment-in-the-negative-selection-of-low-affinity-germinal-center-b-cells-via-c-abl
#6
Jyun-Pei Jhou, I-Shing Yu, Haw Hwai, Chih-Shan Chen, Pei-Lung Chen, Shiang-Jong Tzeng
OBJECTIVE: FcγRIIB is an essential negative regulator of B cells to block BCR signaling and to trigger c-Abl-dependent apoptosis of B cells. FcγRIIB-deficient mice display splenomegaly with expansion of B cells, leading to lupus. FcγRIIB-I232T is a hypo-functional polymorphism associated with lupus susceptibility in humans, an autoimmune disease linked to diminished deletion of autoreactive B cells. In the context of FcγRIIB-I232T polymorphism, we investigated the role of FcγRIIB in the deletion of low-affinity germinal center (GC) B cells, an important mechanism for preventing autoimmunity...
May 17, 2018: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/29774182/spleen-and-splenic-vascular-involvement-in-acute-pancreatitis-an-mri-study
#7
Chao-Lian Xie, Mao Zhang, Yong Chen, Ran Hu, Meng-Yue Tang, Tian-Wu Chen, Hua-Dan Xue, Zheng-Yu Jin, Xiao-Ming Zhang
Background: To investigate the spleen and splenic vascular involvement in acute pancreatitis (AP) and their correlations with the severity of AP using magnetic resonance imaging (MRI). Methods: MRI of 239 patients with AP was retrospectively reviewed to assess splenic and splenic vascular complications, and the severity of AP. The severity of AP was graded by the MRI severity index (MRSI) and the New Revised Classification of AP 2012. The intravoxel incoherent motion (IVIM) parameters (D, D*, and f) of spleen were measured...
April 2018: Quantitative Imaging in Medicine and Surgery
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
#8
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
#9
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/29770667/-clinical-characteristics-of-16-newly-discovered-advanced-schistosomiasis-patients-in-dongpo-district-meishan-city-sichuan-province
#10
Zhou Zhi, Xu Jia, Zhang Yi
OBJECTIVE: To understand the clinical characteristics of newly discovered advanced schistosomiasis patients in Dongpo District, Meishan City, Sichuan Province, so as to provide the reference for enhancing the clinicians' awareness for diagnosis and treatment of this disease and improving the therapeutic effect. METHODS: The data of medical records and schedule of case survey of 16 newly discovered advanced schistosomiasis patients in Dongpo District, Meishan City, Sichuan Province were collected and analyzed...
April 17, 2018: Zhongguo Xue Xi Chong Bing Fang Zhi za Zhi, Chinese Journal of Schistosomiasis Control
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
#11
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/29767839/jak2-v617f-positive-acute-myeloid-leukaemia-aml-a-comparison-between-de-novo-aml-and-secondary-aml-transformed-from-an-underlying-myeloproliferative-neoplasm-a-study-from-the-bone-marrow-pathology-group
#12
Jason Aynardi, Rashmi Manur, Paul R Hess, Seble Chekol, Jennifer J D Morrissette, Daria Babushok, Elizabeth Hexner, Heesun J Rogers, Eric D Hsi, Elizabeth Margolskee, Attilio Orazi, Robert Hasserjian, Adam Bagg
The JAK2 V617F mutation is characteristic of most Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs) and occurs rarely in de novo acute myeloid leukaemia (AML). We sought to characterize AMLs that harbour this mutation and distinguish those that arise de novo (AML-DN) from those that reflect transformation of an underlying MPN (AML-MPN). Forty-five patients with JAK2 V617F-mutated AML were identified; 15 were AML-DN and 30 were AML-MPN. AML-MPN cases were more likely to have splenomegaly (P = 0·02), MPN-like megakaryocytes and higher mean JAK2 V617F VAF at diagnosis (P = 0·04)...
May 16, 2018: British Journal of Haematology
https://www.readbyqxmd.com/read/29766467/thrombotic-microangiopathy-on-kidney-biopsy-in-a-patient-with-tafro-syndrome
#13
Toshikazu Ozeki, Masashi Tsuji, Junichiro Yamamoto, Chisato Shigematsu, Shoichi Maruyama
TAFRO syndrome represents a characteristic constellation of symptoms comprising Thrombocytopenia, Anasarca, myeloFibrosis, Renal dysfunction, and Organomegaly, and is considered to be a clinicopathologic variant of idiopathic multicentric Castleman disease. A 51-year-old woman was admitted to the hospital complaining of abdominal distension. Findings on physical examination were indicative of anasarca. Computed tomography revealed mild splenomegaly, pericardial effusion, pleural effusion, ascites, and paraaortic lymphadenopathy...
May 15, 2018: CEN Case Reports
https://www.readbyqxmd.com/read/29766398/hepatosplenic-t-cell-lymphoma-a-unifying-entity-in-a-patient-with-hemolytic-anemia-massive-splenomegaly-and-liver-dysfunction
#14
Marianna Mavilia, Agnes McAuliffe, Safina Hafeez, Haleh Vaziri
Hepatosplenic T cell lymphoma (HSTCL) is a rare subtype of peripheral non-Hodgkin lymphoma, of which 20% of cases are associated with chronic immunosuppression. It often occurs in patients with inflammatory bowel disease treated with immunomodulating medications such a thiopurines or TNF-alpha inhibitors. Cytopenias are commonly seen but autoimmune hemolytic anemia (AIHA) is rare. Here we present a young male with longstanding ulcerative colitis on chronic azathioprine, exhibiting several rare features of HSTCL...
May 15, 2018: Clinical Journal of Gastroenterology
https://www.readbyqxmd.com/read/29761167/phenotypic-spectrum-and-diagnostic-pitfalls-of-abcb4-deficiency-depending-on-age-of-onset
#15
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/29758336/grand-rounds-hepatic-manifestations-of-telomere-biology-disorders
#16
REVIEW
Mrinal M Patnaik, Patrick S Kamath, Douglas A Simonetto
Clinical Case A 51 year old Caucasian male was referred for evaluation of variceal bleeding. Laboratory tests were remarkable for mild thrombocytopenia and moderate alkaline phosphatase elevation. Synthetic liver function was well preserved. Abdominal computed tomography scan revealed moderate splenomegaly, gastric varices, and normal hepatic contour. A transjugular liver biopsy was performed revealing findings of nodular regenerative hyperplasia (NRH) with no significant fibrosis or necroinflammatory activity...
May 11, 2018: Journal of Hepatology
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
#17
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/29755682/evaluation-of-the-impact-of-s-adenosylmethionine-dependent-methyltransferase-inhibitor-3-deazaneplanocin-a-on-tissue-injury-and-cognitive-function-in-mice
#18
Eva Lhuissier, Juliette Aury-Landas, Valentine Bouet, Céline Bazille, Yohann Repesse, Thomas Freret, Karim Boumédiene, Catherine Baugé
Cancer patients display cognitive impairment due, at least partly, to the treatments. Additionally, chemotherapeutic treatments can lead to organ injury, limiting their use, and are likely to have negative impacts on patients' quality of life. The aim of this study was to investigate the toxicity of 3-Deazaneplanocin A (DZNep) on several tissues and organs, as well as on cognitive functions. DZNep is an inhibitor of S-adenosylmethionine-dependent methyltransferase (in particular of the histone methyltransferase EZH2) which showed antitumoral functions in preclinical trials but whose effects on behavior and on organs (side effects) are not known...
April 17, 2018: Oncotarget
https://www.readbyqxmd.com/read/29753960/effect-of-obesity-on-biodistribution-of-nanoparticles
#19
Claudiana de Jesus Felismino, Edward Helal-Neto, Filipe Leal Portilho, Suyene Rocha Pinto, Félix Sancenón, Ramón Martínez-Máñez, Agatha de Assis Ferreira, Simone Vargas da Silva, Thereza Christina Barja-Fidalgo, Ralph Santos-Oliveira
Nanoparticles have specific features (lipophilicity, surface charge, composition and size). Studies regarding the biological behavior of nanoparticles in diseases such diabetics and obesity are scarce. Here, we evaluated two nanoparticles: magnetic core mesoporous silica (MSN) (58 nm) and polycaprolactone (PCL) nanoparticle (280 nm) in obese mice. Changes in the biodistribution were observed, especially considering the mononuclear phagocyte system (MPS), and the visceral fat tissue. Nonetheless, our data corroborates the influence of size in the biodistribution in obese animals, supporting that smaller nanoparticles, may show a higher tissue deposition at spleen, due the associated splenomegaly and the complications arising from this state...
May 10, 2018: Journal of Controlled Release: Official Journal of the Controlled Release Society
https://www.readbyqxmd.com/read/29753953/robotic-vs-laparoscopic-splenectomy-for-splenomegaly-a-retrospective-comparative-cohort-study
#20
Davide Cavaliere, Leonardo Solaini, Daniela Di Pietrantonio, Fabrizio D'Acapito, Francesca Tauceri, Massimo Framarini, Giorgio Ercolani
BACKGROUND: The aim of this study was to evaluate the role of robotic total splenectomy for splenomegaly, comparing this approach with the laparoscopic technique. METHODS: We conducted a retrospective review of all patients who underwent minimally invasive splenectomy for splenomegaly (maximum splenic diameter>15 cm) at our institution between 2000 and 2017. RESULTS: A total of 39 patients (27 laparoscopic vs 12 robotic splenectomies) were included in the study...
May 15, 2018: International Journal of Surgery
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