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hemophagocytic syndrome

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https://www.readbyqxmd.com/read/29657917/hemophagocytic-lymphohistiocytosis-hlh-secondary-to-disseminated-histoplasmosis-in-the-setting-of-acquired-immunodeficiency-syndrome-aids
#1
Samuel Asanad, Brendan Cerk, Veronica Ramirez
Hemophagocytic lymphohistiocytosis (HLH) is a rare and aggressive disease involving immune system over-activation leading to hemophagocytosis. HLH requires early diagnosis and prompt treatment initiation, especially in patients with Acquired Immunodeficiency Syndrome (AIDS). We present a case of a middle-aged male with AIDS and renal failure, who developed HLH secondary to disseminated histoplasmosis. Etoposide chemotherapy as recommended by the HLH 2004 Guidelines was deferred and treatment focused instead on anti-fungal therapy...
June 2018: Medical Mycology Case Reports
https://www.readbyqxmd.com/read/29657144/macrophage-activation-syndrome-in-patients-affected-by-adult-onset-still-disease-analysis-of-survival-rates-and-predictive-factors-in-the-gruppo-italiano-di-ricerca-in-reumatologia-clinica-e-sperimentale-cohort
#2
Piero Ruscitti, Daniela Iacono, Francesco Ciccia, Giacomo Emmi, Paola Cipriani, Rosa Daniela Grembiale, Federico Perosa, Lorenzo Emmi, Giovanni Triolo, Roberto Giacomelli, Gabriele Valentini
OBJECTIVE: Macrophage activation syndrome (MAS) is a reactive form of hemophagocytic lymphohistiocytosis, which can complicate adult-onset Still disease (AOSD). We investigated AOSD clinical features at the time of diagnosis, to assess predictors of MAS occurrence. Further, we analyzed the outcomes of patients with AOSD who experience MAS. METHODS: Patients with AOSD admitted to any Gruppo Italiano di Ricerca in Reumatologia Clinica e Sperimentale center were retrospectively analyzed for features typical of AOSD, MAS occurrence, and their survival rate...
April 15, 2018: Journal of Rheumatology
https://www.readbyqxmd.com/read/29649976/identification-of-a-novel-nonsense-mutation-in-sh2d1a-in-a-patient-with-x-linked-lymphoproliferative-syndrome-type-1-a-case-report
#3
Xiaodong Lyu, Zhen Guo, Yangwei Li, Ruihua Fan, Yongping Song
BACKGROUND: X-linked lymphoproliferative syndrome type 1 (XLP1) is an X-linked recessive genetic disorder with a strong resemblance to hemophagocytic lymphohistiocytosis (HLH). Causative mutations for XLP1 have been identified in SH2D1A, located on chromosome Xq25. CASE PRESENTATION: We report a case of an 18-month-old male with a novel nonsense mutation in SH2D1A. The patient presented the typical phenotype of HLH, including splenomegaly and hemophagocytosis in the bone marrow...
April 12, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29642928/diagnostic-and-management-of-life-threatening-adult-onset-still-disease-a-french-nationwide-multicenter-study-and-systematic-literature-review
#4
Antoine Néel, Anaïs Wahbi, Benoit Tessoulin, Julien Boileau, Dorothée Carpentier, Olivier Decaux, Laurence Fardet, Guillaume Geri, Pascal Godmer, Cécile Goujard, Hervé Maisonneuve, Arnaud Mari, Jacques Pouchot, Jean-Marc Ziza, Cédric Bretonnière, Mohamed Hamidou
BACKGROUND: Adult-onset Still disease (AOSD) is a rare systemic inflammatory disorder. A few patients develop organ complications that can be life-threatening. Our objectives were to describe the disease course and phenotype of life-threatening AOSD, including response to therapy and long-term outcome. METHODS: A multicenter case series of intensive care medicine (ICU) patients with life-threatening AOSD and a systematic literature review. RESULTS: Twenty patients were included...
April 11, 2018: Critical Care: the Official Journal of the Critical Care Forum
https://www.readbyqxmd.com/read/29620677/a-case-of-ataxia-telangiectasia-presented-with-hemophagocytic-syndrome
#5
Mehmet H Celiksoy, Pelin Ozyavuz Cubuk, Sukru N Guner, Alisan Yildiran
Ataxia-telangiectasia (A-T) is a multisystem disease caused by a genetic defect located on the long arm of chromosome 11 (11p22-23). The gene defect results in the loss of A-T-mutated protein, subsequently leading to unrepaired DNA fractures and defects in the signal transduction pathway. As a result, characteristic findings arise, including recurrent sinopulmonary infections, hypersensitivity against ionized radiation with the tendency to develop cancer related to progressive cerebellar ataxia, pathognomonic oculocutaneous telangiectasias, varying degrees of humoral and cellular immunodeficiency, and infertility...
April 3, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29618691/-monomac-syndrome-patient-developing-myelodysplastic-syndrome-following-persistent-ebv-infection
#6
Hideyuki Yamamoto, Hikaru Hattori, Erina Takagi, Takanobu Morishita, Yuichi Ishikawa, Seitaro Terakura, Tetsuya Nishida, Yoshinori Ito, Makoto Murata, Hitoshi Kiyoi
An 18-year-old man was diagnosed with Epstein-Barr virus (EBV) -associated hemophagocytic syndrome (HPS) and treated with prednisolone (PSL) at a previous hospital. During PSL tapering, the HPS symptoms reappeared, and the patient was referred to our hospital. Increased PSL improved the symptoms, but the EBV infection remained unresolved. At age 20, he was admitted to our hospital for newly developed pneumonia and diagnosed with myelodysplastic syndrome (refractory cytopenia with multilineage dysplasia) (MDS-RCMD; normal karyotype, IPSS: Int-1) by bone marrow examination...
2018: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/29618462/allogeneic-hematopoietic-stem-cell-transplantation-for-severe-refractory-juvenile-idiopathic-arthritis
#7
Juliana M F Silva, Fani Ladomenou, Ben Carpenter, Sharat Chandra, Petr Sedlacek, Renata Formankova, Vicky Grandage, Mark Friswell, Andrew J Cant, Zohreh Nademi, Mary A Slatter, Andrew R Gennery, Sophie Hambleton, Terence J Flood, Giovanna Lucchini, Robert Chiesa, Kanchan Rao, Persis J Amrolia, Paul Brogan, Lucy R Wedderburn, Julie M Glanville, Rachael Hough, Rebecca Marsh, Mario Abinun, Paul Veys
Patients with juvenile idiopathic arthritis (JIA) can experience a severe disease course, with progressive destructive polyarthritis refractory to conventional therapy with disease-modifying antirheumatic drugs including biologics, as well as life-threatening complications including macrophage activation syndrome (MAS). Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is a potentially curative immunomodulatory strategy for patients with such refractory disease. We treated 16 patients in 5 transplant centers between 2007 and 2016: 11 children with systemic JIA and 5 with rheumatoid factor-negative polyarticular JIA; all were either refractory to standard therapy, had developed secondary hemophagocytic lymphohistiocytosis/MAS poorly responsive to treatment, or had failed autologous HSCT...
April 10, 2018: Blood Advances
https://www.readbyqxmd.com/read/29614573/-eperythrozoonosis-complicated-with-hemophagocytic-syndrome-report-of-four-cases-and-review-of-literature
#8
J G Li, D Zhang, Z X Zhou, S N Li, M Kang, J M Lai
Objective: To analyze the clinical characteristics of eperythrozoonosis complicated with hemophagocytic syndrome (HPS) in 4 children. Methods: Four patients diagnosed with eperythrozoonosis complicated with HPS in the Children's Hospital Affiliated Capital Institute of Pediatrics during the period from June 2014 to July 2016 were enrolled. The clinical manifestations, laboratory examination data and therapeutic strategies were analyzed. A literature search (search terms included 'eperythrozoonosis' and 'hemophagocytic syndrome') was conducted using CNKI, Wanfang database, Chinese biomedical literature database and PubMed to include recently published studies (searched from the database establishment to January 2017)...
April 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29610175/neonatal-adenovirus-infection-complicated-by-hemophagocytic-lymphohistiocytosis-syndrome
#9
Nina Censoplano, Stephen Gorga, Kate Waldeck, Terri Stillwell, Raja Rabah-Hammad, Heidi Flori
Two infants with disseminated adenoviral infections are described. Both these infants had a similar clinical course and were also diagnosed with secondary hemophagocytic lymphohistiocytosis (HLH). Previous reports of immunocompromised adults with adenovirus-associated HLH are in the literature; however, this is the first report that we are aware of with this pathology occurring in infants. These cases are used to demonstrate the importance of thinking about HLH in patients who are diagnosed with adenovirus and exhibit prolonged fevers that are unresponsive to antimicrobial agents with hepatosplenomegaly and cytopenias...
April 2018: Pediatrics
https://www.readbyqxmd.com/read/29607975/pseudomembranous-invasive-tracheobronchial-aspergillosis-with-fulminant-hepatitis-and-hemophagocytic-syndrome
#10
Suguru Majima, Shotaro Okachi, Motoyo Asano, Keiko Wakahara, Naozumi Hashimoto, Mitsuo Sato, Masatoshi Ishigami, Yoshinori Hasegawa
Invasive tracheobronchial aspergillosis (ITBA), a rare form of invasive pulmonary Aspergillus infection (IPA), is predominantly confined to the tracheobronchial tree. We herein report a case of ITBA with severe necrotic pseudomembrane in a 57-year-old woman with fulminant hepatitis and hemophagocytic syndrome. Bronchoscopic findings revealed a widespread pseudomembranous formation of the trachea and bronchi. Aspergillus fumigatus was cultured from bronchial lavage fluid, and the histological findings of an endobronchial biopsy revealed necrosis and invasive hyphae...
March 30, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29596912/characterization-of-a-large-unc13d-gene-duplication-in-a-patient-with-familial-hemophagocytic-lymphohistiocytosis-type-3
#11
Eitaro Hiejima, Hirofumi Shibata, Takahiro Yasumi, Saeko Shimodera, Masayuki Hori, Kazushi Izawa, Tomoki Kawai, Masaki Matsuoka, Yasuko Kojima, Akira Ohara, Ryuta Nishikomori, Osamu Ohara, Toshio Heike
Familial hemophagocytic lymphohistiocytosis (FHL) type 3 is a life-threatening immune dysregulation syndrome caused by mutations in the UNC13D gene, encoding the munc13-4 protein, which is important for function of cytotoxic lymphocytes. FHL3 accounts for 30-40% of FHL cases, and more than 100 mutations in the UNC13D gene have been described to date. We describe the first case of FHL3 carrying an intragenic duplication of UNC13D, apparently mediated by recombination of Alu elements. NK cell degranulation and munc13-4 protein expression assays are useful for early identification of such mutations, which may be missed by analysis of genomic DNA alone...
March 26, 2018: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/29578120/central-nervous-system-involvement-in-hemophagocytic-lymphohistiocytosis-in-adults-a-retrospective-analysis-of-96-patients-in-a-single-center
#12
Yue Song, Rui-Jun Pei, Yi-Ni Wang, Jia Zhang, Zhao Wang
Background: Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening clinical syndrome. Central nervous system (CNS) involvement is a severe complication, which can lead to rapid disease development and higher morality. However, this has not been given enough attention in adult HLH. Therefore, we carried out this study to analyze the clinical features, laboratory findings, treatment outcomes, and other characteristics of adult HLH with CNS involvement. Methods: A retrospective analysis of 96 adult patients with HLH combined with CNS involvement between June 2003 and December 2016 was conducted...
April 5, 2018: Chinese Medical Journal
https://www.readbyqxmd.com/read/29577525/post-hematopoietic-stem-cell-transplant-hemophagocytic-lymphohistiocytosis-or-an-impostor-case-report-and-review-of-literature
#13
Anant Vatsayan, Irina Pateva, Linda Cabral, Jignesh Dalal, Rolla Abu-Arja
HLH occurring after HSCT is a relatively rare disease. Many conditions may mimic or trigger HLH in post-HSCT period (eg, cytokine release syndrome, engraftment syndrome, graft rejection/failure, acute graft-vs-host disease, infections systemic inflammatory response syndrome/sepsis, and thrombotic microangiopathy). Moreover, this period is usually marked by febrile illness, cytopenia, and a "cytokine storm" leading to elevation of inflammatory biomarkers like ferritin and sCD25. These parameters overlap with the diagnostic criteria for HLH...
March 25, 2018: Pediatric Transplantation
https://www.readbyqxmd.com/read/29573075/plasmodium-falciparum-infection-transmitted-by-transfusion-a-cause-of-hemophagocytic-syndrome-after-bone-marrow-tranplantation-in-a-non-endemic-country
#14
Saloua Ladeb, Nour Ben Abdejlil, Najla Fakhfakh, Amel Lakhal, Dorra Belloumi, Leila Ben Hamed, Aicha Kallel, Lamia Torjman, Rym El Fatimi, Slama Hmida, Kalthoum Kallel, Tarek Ben Othman
A 27-year-old man with severe aplastic anemia underwent bone marrow transplantation from his HLA identical brother in July 2016. Conditioning included ATGAM 30 mg/kg for 3 days and Cyclophosphamide 50 mg/kg for 4 days. The patient received several platelet and red blood cell transfusions before and after the conditioning. The patient received broad spectrum antibiotics and caspofungin because persistant febrile neutropenia without bacteriological or mycological documentation. Hemophagocytic syndrome was diagnosed on day +12...
March 23, 2018: Transplant Infectious Disease: An Official Journal of the Transplantation Society
https://www.readbyqxmd.com/read/29563683/hemophagocytic-lymphohistiocytosis-in-an-infant-with-multiple-triggers
#15
Sataroopa Mishra, Amitabh Singh, Lavleen Singh, Anirban Mandal, Rahul Jain
Hemophagocytic lymphohistiocytosis (HLH) is a disorder of immune dysregulation secondary to a massive unregulated cytokine storm and its downstream consequences. HLH is being increasingly recognized as a cause of pyrexia of unknown origin, unexplained cytopenias, and hepatic dysfunction. However, this potentially treatable condition is often missed due to lack of suspicion, variable, and nonspecific presentations, inability to fulfil all the diagnostic criteria and availability of diagnostic tests in resource limited settings...
January 2018: Asian Journal of Transfusion Science
https://www.readbyqxmd.com/read/29542206/long-term-prognosis-of-patients-with-hhv-6-reactivation-following-allogeneic-hsct
#16
Kotoe Iesato, Tsukasa Hori, Yuko Yoto, Masaki Yamamoto, Natsuko Inazawa, Kenichi Kamo, Hiroshi Ikeda, Satoshi Iyama, Naoki Hatakeyama, Akihiro Iguchi, Junichi Sugita, Ryoji Kobayashi, Nobuhiro Suzuki, Hiroyuki Tsutsumi
BACKGROUND: Patients undergoing hematopoietic stem cell transplantation (HSCT) frequently experience HHV-6 reactivation typically during early phase following HSCT. However, the long-term clinical complications and prognosis among such patients remain unclear. METHODS: Between September 2010 and October 2012, whole blood samples from 105 patients collected weekly from prior to 6 weeks after HSCT underwent multiplex polymerase chain reaction (PCR) to screen for viral DNA, followed by real-time PCR for quantitative estimation...
March 14, 2018: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/29470247/hypofibrinogenemia-is-associated-with-poor-outcome-and-secondary-hemophagocytic-lymphohistiocytosis-macrophage-activation-syndrome-in-pediatric-severe-sepsis
#17
Jessica K Signoff, Julie C Fitzgerald, David T Teachey, Fran Balamuth, Scott L Weiss
OBJECTIVES: Some children with sepsis exhibit a sustained hyperinflammatory response that can trigger secondary hemophagocytic lymphohistiocytosis/macrophage activation syndrome. Although hypofibrinogenemia is a shared feature of sepsis and hemophagocytic lymphohistiocytosis, there are no data about fibrinogen as a biomarker to identify children with sepsis/secondary hemophagocytic lymphohistiocytosis/macrophage activation syndrome overlap. We hypothesized that hypofibrinogenemia is associated with poor outcomes and secondary hemophagocytic lymphohistiocytosis/macrophage activation syndrome and has utility as a screening biomarker for this sepsis phenotype...
February 21, 2018: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/29451047/national-survey-of-japanese-patients-with-mevalonate-kinase-deficiency-reveals-distinctive-genetic-and-clinical-characteristics
#18
Takayuki Tanaka, Kohei Yoshioka, Ryuta Nishikomori, Hidemasa Sakai, Junya Abe, Yuriko Yamashita, Ryugo Hiramoto, Akira Morimoto, Eiichi Ishii, Hirokazu Arakawa, Utako Kaneko, Yusei Ohshima, Nami Okamoto, Osamu Ohara, Ikue Hata, Yosuke Shigematsu, Tomoki Kawai, Takahiro Yasumi, Toshio Heike
OBJECTIVES: Mevalonate kinase deficiency (MKD), a rare autosomal recessive autoinflammatory syndrome, is caused by disease-causing variants of the mevalonate kinase gene. A national survey was undertaken to investigate clinical and genetic features of MKD patients in Japan. METHODS: The survey identified ten patients with MKD. Clinical information and laboratory data were collected from medical records and by direct interviews with patients, their families, and their attending physicians...
February 16, 2018: Modern Rheumatology
https://www.readbyqxmd.com/read/29445937/secondary-hemophagocytic-syndrome-associated-with-cog6-gene-defect-report-and-review
#19
Nouf Althonaian, Abdulrahman Alsultan, Eva Morava, Majid Alfadhel
Hemophagocytic lymphohistiocytosis (HLH) is a rare but potentially fatal disease that is characterized by proliferation and infiltration of hyperactivated macrophages and T-lymphocytes. Clinically, it is characterized by prolonged fever, hepatosplenomegaly, hypertriglyceridemia, hypofibrinogenemia, pancytopenia, and hemophagocytosis in the bone marrow, spleen, or lymph nodes. It can be classified as primary if it is due to a genetic defect, or secondary if it is due to a different etiology such as severe infection, immune deficiency syndrome, rheumatological disorder, malignancy, and inborn errors of metabolism such as galactosemia, multiple sulfatase deficiency, lysinuric protein intolerance, Gaucher disease, Niemann-Pick disease, Wolman disease, propionic acidemia, methylmalonic acidemia, biotinidase deficiency, cobalamin C defect, galactosialidosis, Pearson syndrome, and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency...
February 15, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29434707/leuconostoc-pseudomesenteroides-associated-hemophagocytic-syndrome-a-case-report
#20
Xinfeng Lin, Qilong Jiang, Jiduo Liu, Fu Zhao, Weitao Chen
Hemophagocytic lymphohistiocytosis (HLH) is a rare hyperinflammatory syndrome characterized by fever, pancytopenia and splenomegaly. The underlying hemophagocytosis occurs primarily in the bone marrow, liver and lymph nodes. Multiple microbiological agents, including cytomegalovirus, Epstein-Barr virus and Mycobacterium tuberculosis, have been implicated in the pathogenesis of HLH. The present study presents a case of HLH associated with Leuconostoc pseudomesenteroides infection treated successfully with clindamycin...
February 2018: Experimental and Therapeutic Medicine
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