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https://www.readbyqxmd.com/read/29224419/expanding-the-phenotype-of-alk-positive-histiocytosis-a-report-of-2-cases
#1
Huiya Huang, Gabriela Gheorghe, Paula E North, Mariko Suchi
ALK-positive histiocytosis is a recently described rare histiocytic proliferative disorder of early infancy. When infants present with anemia, thrombocytopenia, and hepatosplenomegaly, this entity should be included in the differential diagnosis along with hemophagocytic lymphohistiocytosis, metabolic/storage diseases, hematopoietic malignancies, and autoimmune thrombocytopenia. We report 2 new cases of ALK-positive histiocytosis, one with kidney involvement and the other with extensive bone marrow involvement in addition to an overt liver disease...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29215415/epstein-barr-virus-associated-hemophagocytic-lymphohistiocytosis-mimicking-lymphoma-on-fdg-pet-ct
#2
Qingqing Pan, Yaping Luo, Huanwen Wu, Yanru Ma, Fang Li
A 15-year-old boy with fever, pancytopenia, and hepatosplenomegaly was diagnosed as hemophagocytic lymphohistiocytosis (HLH). F-FDG PET/CT showed hypermetabolic foci in the liver, spleen, and bone marrow, as well as multiple FDG-avid lymph nodes, which were highly suggestive of lymphoma. Specimens from splenectomy depicted a large number of macrophages/histiocytes with hemophagocytosis of erythrocytes, without evidence of malignancy. Considering increased Epstein-Barr virus (EBV) DNA in peripheral blood and positive staining for EBV-encoded RNA in the spleen, EBV-associated HLH was confirmed...
December 5, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/29207722/thalassaemia-trait-with-gaucher-disease-a-diagnostic-dilemma
#3
Jyoti Ramnath Kini, Saraswathy Sreeram, Anupama Hegde, Sowmini Kamath, Radha Ramachandra Pai
Gaucher Disease is an autosomal recessive disease caused by the accumulation of glucocerebrosidase due to deficiency in lysosomal glucocerebrosidase. Thalassaemia trait is asymptomatic and is usually an incidental diagnosis. Both thalassaemia and Gaucher disease can have similar haematologic manifestations and hence, their coexistence causes diagnostic dilemma. Our patient presented at one-and-a-half years with weakness, pallor, failure to thrive and massive hepatosplenomegaly. Clinical examination and history pointed to a lipid storage disease...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29200144/clinical-challenges-identification-of-patients-with-novel-primary-immunodeficiency-syndromes
#4
David Buchbinder, Mikko Seppanen, V Koneti Rao, Gulbu Uzel, Diane Nugent
Novel primary immunodeficiency disorders are being identified with next generation sequencing technologies. We describe 1 patient with cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) haploinsufficiency who had recurrent enhancing brain lesions, nodular pulmonary infiltrates, hepatosplenomegaly, immune cytopenias, as well as progressive hypogammaglobulinemia and lymphopenia. We describe a second patient with activated p110δ syndrome (APDS)/p110δ activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency (PASLI) in association with recurrent respiratory tract infections, Epstein-Barr virus infection, lymphadenopathy, elevated serum IgM, and progressive lymphopenia...
December 1, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29197565/molecular-and-biochemical-biomarkers-for-diagnosis-and-therapy-monitorization-of-niemann-pick-type-c-patients
#5
Tatiane Grazieli Hammerschmidt, Graziela de Oliveira Schmitt Ribas, Maria Luiza Saraiva-Pereira, Márcia Polese Bonatto, Rejane Gus Kessler, Fernanda Timm Seabra Souza, Franciele Trapp, Kristiane Michelin-Tirelli, Maira Graeff Burin, Roberto Giugliani, Carmen Regla Vargas
BACKGROUND: Niemann-Pick type C (NP-C), one of 50 inherited lysosomal storage disorders, is caused by NPC protein impairment that leads to unesterified cholesterol accumulation in late endosomal/lysosomal compartments. The clinical manifestations of NP-C include hepatosplenomegaly, neurological and psychiatric symptoms. Current diagnosis for NP-C is based on observation of the accumulated cholesterol in fibroblasts of affected individuals, using an invasive and time expensive test, called Filipin staining...
November 29, 2017: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/29187043/an-atypical-presentation-of-alagille-syndrome
#6
Katherine Y Wu, Amanda L Treece, Pierre A Russo, Jessica W Wen
Alagille syndrome is a multisystem disorder classically involving the liver, heart, vertebrae, facial features, and the eyes. In this case report, we document a case of Alagille syndrome with an atypical clinical and histopathologic presentation and subsequent identification of a novel JAG1 missense mutation. This case highlights that there may be both atypical clinical and pathologic findings in mutation-proven Alagille syndrome and that the diagnosis of Alagille syndrome should be considered in cases of ongoing bile duct damage in the setting of early-onset jaundice, cholestasis, hepatosplenomegaly, posterior embryotoxon in the eyes, and butterfly vertebrae...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29185819/reversal-of-glanzmann-thrombasthenia-platelet-phenotype-after-imatinib-treatment-in-a-pediatric-chronic-myeloid-leukemia-patient
#7
Richa Chauhan, Sudha Sazawal, Kanwaljeet Singh, R Ragesh R Nair, Sunita Chhikara, Roopam Deka, Rekha Chaubey, Karthika Kundil Veetil, Prasad Dange, Manoranjan Mahapatra, Renu Saxena
Chronic Myelogenous Leukemia (CML) is a myeloproliferative neoplasm characterized by proliferation of Philadelphia positive clonal pluripotent hematopoietic cells. Bleeding is a rare presentation of CML that can occur due to platelet dysfunction. Both pre-treatment and post-treatment platelet function abnormalities in CML have been described in the literature. We describe a rare case of childhood CML who presented with mucocutateous bleeding manifestations. On laboratory workup, a Glanzmann Thrombasthenia (GT) like platelet phenotype was demonstrated along with confirmation of diagnosis of CML in chronic phase...
November 29, 2017: Platelets
https://www.readbyqxmd.com/read/29184458/update-on-the-management-of-systemic-juvenile-idiopathic-arthritis-and-role-of-il-1-and-il-6-inhibition
#8
REVIEW
Sriharsha Grevich, Susan Shenoi
Systemic juvenile idiopathic arthritis (SJIA) is a disease marked with arthritis and several features of systemic inflammation including fevers, rashes, hepatosplenomegaly, lymphadenopathy, and serositis. The presentation can be variable and arthritis can be a later feature. Macrophage activation syndrome can be a life-threatening complication of this illness and requires early recognition and prompt therapy. Advancements in understanding the biology of SJIA have led to the development of cytokine-targeted therapies, mainly interleukin-1 (IL-1) and IL-6 inhibitors that have significantly improved outcomes...
2017: Adolescent Health, Medicine and Therapeutics
https://www.readbyqxmd.com/read/29184005/an-infant-with-congenital-rubella-syndrome-in-developing-india
#9
Ajit Singh, Sharon Narula, Hashir Kareem, Tom Devasia
Congenital rubella syndrome (CRS), caused by rubella virus infection during pregnancy, remains a public health concern in developing countries. Three to five per cent of all suspected CRS cases in India have been proven to be a rubella infection. Only about 45%-60% of pregnant women and infants in India receive the rubella vaccination. We present a case of a preterm female infant who tested positive for the rubella virus. The baby was born with low birth weight and, on examination, showed pallor and hepatosplenomegaly...
November 28, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29181134/a-nine-month-old-boy-with-atypical-hemophagocytic-lymphohistiocytosis
#10
Monia Ouederni, Monia Ben Khaled, Samia Rekaya, Ilhem Ben Fraj, Fethi Mellouli, Mohamed Bejaoui
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammation caused by uncontrolled proliferation of activated lymphocytes and histiocytes. Often, HLH is an acquired syndrome. We report a case of a nine month-old-boy presented with hepatosplenomegaly, severe anemia, thrombocytopenia, hypertriglyceridemia and high hyperferritinemia. These clinical features of HLH prompted a wide range of infectious and auto-immune tests to be performed. After an extensive diagnostic workup, he was referred to the immune-hematologic unit for HLH suspicion with an unknown cause...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/29177397/-not-everything-is-zika-congenital-toxoplasmosis-still-prevalent-in-colombia
#11
Jorge L Alvarado-Socarras, Keyla Meneses-Silvera, Andrea Carolina Zarate-Vergara, Carlos Guerrero-Gomez, Alfonso J Rodriguez-Morales
Congenital toxoplasmosis continues to be a public health threat. Even existing guidelines, publicly known, its implementation and lack of appropriate interpretation of serological tests in pregnancy is often observed. This leds to failure in opportunities for positive and known interventions to decrease the fetal risk due to Toxoplasma gondii infection. We reported herein a case series, with variable neurological and systemic compromise (respiratory distress, hepatosplenomegaly, enterocolitis, brain calcifications, thrombocytopenia, ascites, shock), even fatal, calling for awareness about the fact that despite the Zika epidemics in 2015-2016 in Brazil, Colombia and other countries, precisely toxoplasmosis, is a differential diagnosis still prevalent in these territories, that can leds to severe consequences, with neurological disability and risk of ocular damage, even lately...
April 2017: Revista Peruana de Medicina Experimental y Salud Pública
https://www.readbyqxmd.com/read/29177396/-co-infection-by-mycobacterium-fortuitum-and-mycobacterium-tuberculosis-in-splenic-abscesses-in-a-patient-with-hiv
#12
Leslie Soto-Arquíñigo, Manuel García-Pareja, Eduardo Gotuzzo-Herencia, Pedro Legua-Leiva, Manuel Sánchez-Herrera
Patients with HIV are susceptible to mycobacterium infection. In the case of fast-growing mycobacteria, the group to which Mycobacterium fortuitum (M. fortuitum) belongs, infections have been described in the skin, lungs, lymph nodes and disseminated disease. We present the case of a 43-year-old male patient with pre-diagnosis of HIV in antiretroviral therapy, which comes as a fever, asthenia, weight loss and chronic diarrhea. Abdominal tomography is performed and hepatosplenomegaly is evidenced with nodular lesions in the spleen...
April 2017: Revista Peruana de Medicina Experimental y Salud Pública
https://www.readbyqxmd.com/read/29168031/neural-cells-generated-from-human-induced-pluripotent-stem-cells-as-a-model-of-cns-involvement-in-mucopolysaccharidosis-type-ii
#13
Jitka Rybová, Jana Ledvinová, Jakub Sikora, Ladislav Kuchař, Robert Dobrovolný
Mucopolysaccharidosis type II (MPSII) is a rare X-linked lysosomal storage disorder caused by mutations in the iduronate-2-sulfatase (IDS) gene (IDS, Xq28). MPSII is characterized by skeletal deformities, hearing loss, airway obstruction, hepatosplenomegaly, cardiac valvular disease, and progressive neurological impairment. At the cellular level, IDS deficiency leads to lysosomal storage of glycosaminoglycans (GAGs), dominated by accumulation of dermatan and heparan sulfates. Human induced pluripotent stem cells (iPSC) represent an alternative system that complements the available MPSII murine model...
November 22, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29163992/cd56-negative-aggressive-nk-cell-leukemia-relapsing-as-multiple-cranial-nerve-palsies-case-report-and-literature-review
#14
M Guerreiro, F Príncipe, M J Teles, S Fonseca, A H Santos, E Fonseca, P Gomes, C Marques, M Lima
Background: Aggressive natural killer cell leukemia (ANKL) is extremely rare and habitually manifests as a systemic disease with multiorgan failure that rapidly evolves to death. The neoplastic natural killer (NK) cells usually harbor the Epstein-Barr virus (EBV) with a latent viral infection pattern type II; they often have a cytoplasmic CD3ε(+) and surface CD3(-), CD2(+), and CD56(+) immunophenotype, and they show complex genetic abnormalities affecting multiple tumor suppressor genes and oncogenes...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29155103/rasgrp1-mutation-in-autoimmune-lymphoproliferative-syndrome-like-disease
#15
Huawei Mao, Wanling Yang, Sylvain Latour, Jing Yang, Sarah Winter, Jian Zheng, Ke Ni, Minmin Lv, Chenjing Liu, Hongmei Huang, Koon-Wing Chan, Pamela Pui-Wah Lee, Wenwei Tu, Alain Fischer, Yu-Lung Lau
BACKGROUND: Autoimmune lymphoproliferative syndrome (ALPS) is a genetic disorder of lymphocyte homeostasis due to impaired apoptosis. It was initially regarded as a very rare disease, but recent studies show it may be more common than previously thought. Defects in a couple of genes have been identified in a proportion of ALPS patients, but around one third of such patients remain undefined genetically. OBJECTIVE: We described two siblings presenting with ALPS-like disease...
November 15, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29153024/-diet-treatment-of-classical-galactosemia
#16
Erika Kiss, Lídia Balogh, Péter Reismann
Classical galactosemia is an inherited disorder of the carbohydrate metabolism, most often caused by the deficient activity of the enzyme galactose-1-phosphate-uridyltransferase. Classical galactosemia presents in the neonatal period with life threatening illness after galactose is introduced in the diet. Symptoms and signs include poor feeding, vomiting, and diarrhea, weight loss, jaundice, hypotension, cataracts, hepatosplenomegaly, hepatocellular insufficiency, and encephalopathy. Since 1975 the testing for galactosemia is part of the neonatal screening program in Hungary...
November 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/29150899/p-arg69trp-in-rnaseh2c-is-a-founder-variant-in-three-indian-families-with-aicardi-gouti%C3%A3-res-syndrome
#17
Malavika Hebbar, Anil Kanthi, Aroor Shrikiran, Snehal Patil, Mamta Muranjan, Febi Francis, Vishnu Bhat B, Katta M Girisha, Anju Shukla
Aicardi-Goutières syndrome is an early-onset severe neurological disorder characterized by intracranial calcification, white matter abnormalities, hepatosplenomegaly, cerebrospinal fluid lymphocytosis, and elevated interferon-α levels, thus mimicking congenital viral infections. It is a genetically heterogeneous condition and autosomal recessive and autosomal dominant forms with variations in seven genes known till date. Variations in RNASEH2C cause an autosomal recessive form of AGS. Here we report three Indian families with variant, c...
November 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29145776/role-of-computed-tomography-of-abdomen-in-difficult-to-diagnose-typhoid-fever-a-case-series
#18
Wajid Hafeez, S Rajalakshmi, S Sripriya, M Madhu Bashini
Background and Aim Diagnosis of typhoid is challenging when blood cultures fail to isolate Salmonella species. We report our experience with interpreting computed tomography (CT) abdomen findings in a case series of typhoid fever. Methods The case series consisted of patients who had a CT abdomen done as part of their investigations and a final diagnosis of typhoid fever. The CT films were reviewed and findings evaluated for distinctive features. Results During 2011-2017, 11 patients met the inclusion criteria...
January 1, 2017: Tropical Doctor
https://www.readbyqxmd.com/read/29141318/-ras-associated-autoimmune-leukoproliferative-disorder-a-report-of-2-cases-and-literature-review
#19
T Y He, C R Li, Y Xia, F F Liang, Y Luo, J Yang
Objective: To investigate the clinical features and genetic characteristics of cases with Ras-associated autoimmune leukoproliferative disorder(RALD). Method: Characteristics of clinical data and gene mutation of the first two cases in China with RALD were retrospectively analyzed. The related literature was searched by using search terms "NRAS" , "KRAS" or "RALD" . Result: Case1, a seven-year-seven-month old girl, was admitted due to "thrombocytopenia and splenomegaly for three years" . Palpation showed enlargement of submandibular lymph nodes and hepatosplenomegaly...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29110911/blau-syndrome-with-good-reponses-to-tocilizumab-a-case-report-and-focused-literature-review
#20
Li Lu, Min Shen, Dongbin Jiang, Yanmin Li, Xiaolong Zheng, Yao Li, Zhixun Li, Leilei Zhang, Jungen Tang, Yanke Guo, Shengyun Liu, Zhaohui Zheng, Guanmin Gao, Quancheng Kan
OBJECTIVES: Blau syndrome (BS), a rare auto-inflammatory granulomatous disease, is a progressive disorder. Usually the maintenance dose of glucocorticoid may not be tapered below 15 mg per day while immunosuppressives is used. There has been some experience with biologic agents in refractory BS patients. The objective of this study is to describe the case of a BS patient benefiting from Tocilizumab, a humanized monoclonal antibody against interleukin 6 receptor. METHODS: We report the first Chinese patient with BS who was resistant to currently available therapies but had rapid quiescence after using Tocilizumab...
September 25, 2017: Seminars in Arthritis and Rheumatism
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