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https://www.readbyqxmd.com/read/29665027/genetic-variant-spectrum-in-265-chinese-patients-with-hemophagocytic-lymphohistiocytosis-molecular-analyses-of-prf1-unc13d-stx11-stxbp2-sh2d1a-and-xiap
#1
X Chen, F Wang, Y Zhang, W Teng, M Wang, D Nie, X Zhou, D Wang, H Zhao, P Zhu, H Liu
Hemophagocytic lymphohistiocytosis (HLH) is a rare life-threatening hyperinflammatory disease. This study aimed to investigate the frequencies and distributions of inherited variants in PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAP genes in Chinese patients with HLH. A total of 265 patients diagnosed with HLH from January 2010 to December 2016 were recruited and analyzed for the six genes. Genetic variants were observed in 87 (32.83%) patients. 36 (13.58%) exhibited variants in UNC13D, 18 (6.79%) exhibited PRF1 variants, 10 (3...
April 17, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29658454/-clinical-features-and-prognosis-of-malignancy-associated-hemophagocytic-lymphohistiocytosis-in-children-a-clinical-analysis-of-24-cases
#2
Wan-Yan Zhang, Yuan Zhang, Nan-Nan Dong, Ying-Chao Wang, Guang-Yao Sheng, Xue-Ju Xu, Yu-Feng Liu
OBJECTIVE: To investigate the clinical features and prognosis of malignancy-associated hemophagocytic lymphohistiocytosis (MAHS) in children. METHODS: A retrospective analysis was performed for the primary diseases, clinical features, and prognosis of 24 children with MAHS. RESULTS: Among the 24 children, 11 (46%) had MAHS induced by tumor and 13 (54%) had chemotherapy-associated MAHS. As for primary diseases, 17 children had acute leukemia, 6 had lymphoma, and 1 had neuroblastoma...
April 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29657917/hemophagocytic-lymphohistiocytosis-hlh-secondary-to-disseminated-histoplasmosis-in-the-setting-of-acquired-immunodeficiency-syndrome-aids
#3
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/29649976/identification-of-a-novel-nonsense-mutation-in-sh2d1a-in-a-patient-with-x-linked-lymphoproliferative-syndrome-type-1-a-case-report
#4
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/29642431/the-recombinant-inhibitor-of-dna-binding-id2-forms-multimeric-structures-via-the-helix-loop-helix-domain-and-the-nuclear-export-signal
#5
Cornelia Roschger, Mario Schubert, Christof Regl, Ancuela Andosch, Augusto Marquez, Thomas Berger, Christian G Huber, Ursula Lütz-Meindl, Chiara Cabrele
The inhibitor of DNA binding and cell differentiation 2 (Id2) is a helix-loop-helix (HLH) protein that acts as negative dominant regulator of basic-HLH transcription factors during development and in cancer. The structural properties of Id2 have been investigated so far by using synthetic or recombinant fragments reproducing single domains (N-terminus, HLH, C-terminus): the HLH domain tends to dimerize into a four-helix bundle, whereas the flanking regions are flexible. In this work, the intact protein was expressed in E...
April 7, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29614573/-eperythrozoonosis-complicated-with-hemophagocytic-syndrome-report-of-four-cases-and-review-of-literature
#6
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
#7
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/29600279/intracellular-trafficking-and-persistence-of-acinetobacter-baumannii-requires-transcription-factor-eb
#8
Raquel Parra-Millán, David Guerrero-Gómez, Rafael Ayerbe-Algaba, Maria Eugenia Pachón-Ibáñez, Antonio Miranda-Vizuete, Jerónimo Pachón, Younes Smani
Acinetobacter baumannii is a significant human pathogen associated with hospital-acquired infections. While adhesion, an initial and important step in A. baumannii infection, is well characterized, the intracellular trafficking of this pathogen inside host cells remains poorly studied. Here, we demonstrate that transcription factor EB (TFEB) is activated after A. baumannii infection of human lung epithelial cells (A549). We also show that TFEB is required for the invasion and persistence inside A549 cells...
March 2018: MSphere
https://www.readbyqxmd.com/read/29588173/pil5-represses-floral-transition-in-arabidopsis-under-long-day-conditions
#9
Minjie Wu, Dongdong Liu, Wakeel Abdul, Sakila Upreti, Yihua Liu, Ge Song, Junyu Wu, Bohan Liu, Yinbo Gan
PHYTOCHROME INTERACING FACTOR 3 LIKE 5 (PIL5), also named PHYTOCHROME INTERACTING FACTOR 1 (PIF1) is an important b-HLH transcription factor in Arabidopsis thaliana. Here we show that mutant of pil5-1 displays early flowering phenotype. We demonstrate that the expressions of the major flowering promoter genes [FLOWERING LOCUS T (FT), SUPPRESOR OF OVEREXPRESSION OF CO 1 (SOC1), and LEAFY (LFY)] are upregulated in the mutant of pil5-1. There is a significant increase of the mRNA of PIL5 in the mutants of co2-1, ft-10, soc1-2, and lfy-4...
March 24, 2018: Biochemical and Biophysical Research Communications
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
#10
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
#11
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/29563683/hemophagocytic-lymphohistiocytosis-in-an-infant-with-multiple-triggers
#12
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/29549174/human-ctl-based-functional-analysis-shows-the-reliability-of-a-munc13-4-protein-expression-assay-for-fhl3-diagnosis
#13
Hirofumi Shibata, Takahiro Yasumi, Saeko Shimodera, Eitaro Hiejima, Kazushi Izawa, Tomoki Kawai, Ryutaro Shirakawa, Taizo Wada, Ryuta Nishikomori, Hisanori Horiuchi, Osamu Ohara, Eiichi Ishii, Toshio Heike
Familial hemophagocytic lymphohistiocytosis (FHL) is the major form of hereditary hemophagocytic lymphohistiocytosis (HLH); as such, it requires prompt and accurate diagnosis. We previously reported that FHL type 3 (FHL3) can be rapidly screened by detecting munc13-4 expression in platelets using flow cytometry; however, the reliability of the munc13-4 expression assay for FHL3 diagnosis is unclear. Regardless of the type of UNC13D mutation, all reported FHL3 cases examined for munc13-4 protein showed significantly reduced expression...
March 16, 2018: Blood
https://www.readbyqxmd.com/read/29531733/a-reminder-of-the-place-of-morphology-and-the-h-score-in-the-diagnosis-of-hemophagocytic-lymphohistiocytosis-hlh
#14
Favresse Julien, Lardinois Benjamin, Chatelain Bernard, Mullier François, Jacqmin Hugues
This case report reminds the reader of the place of hemophagocytosis and the H-Score in the diagnosis of secondary hemophagocytic lymphohistiocytosis.
March 2018: Clinical Case Reports
https://www.readbyqxmd.com/read/29529681/severe-complication-during-remission-of-crohn-s-disease-hemophagocytic-lymphohistiocytosis-due-to-acute-cytomegalovirus-infection
#15
Jan Miechowiecki, Waltraud Stainer, Gertraud Wallner, Herwig Tuppy, Walter Aichinger, Wolfgang Prammer, Andreas Kirchgatterer
INTRODUCTION:  Immunosuppressive therapy is today's standard treatment of patients with moderate to severe inflammatory bowel disease (IBD). The risk for opportunistic infections is increased due to this therapy and is a concern in the management of patient with IBD undergoing such a treatment. CASE REPORT:  In this paper, we describe a case of an acute cytomegalovirus (CMV) infection in a 35-year-old male patient with Crohn's disease being in remission while receiving azathioprine therapy...
March 2018: Zeitschrift Für Gastroenterologie
https://www.readbyqxmd.com/read/29525079/comparison-of-clinical-characteristics-among-subtypes-of-visual-symptoms-in-patients-with-transient-ischemic-attack-analysis-of-the-prospective-multicenter-registry-to-identify-subsequent-cardiovascular-events-after-tia-promise-tia-registry
#16
Koji Tanaka, Toshiyuki Uehara, Kazumi Kimura, Yasushi Okada, Yasuhiro Hasegawa, Norio Tanahashi, Akifumi Suzuki, Jyoji Nakagawara, Kazumasa Arii, Shinji Nagahiro, Kuniaki Ogasawara, Shinichiro Uchiyama, Masayasu Matsumoto, Koji Iihara, Kazunori Toyoda, Kazuo Minematsu
BACKGROUND: A transient visual symptom (TVS) is a clinical manifestation of transient ischemic attack (TIA). The aim of this study was to investigate differences in clinical characteristics among subtypes of TVS using multicenter TIA registry data. MATERIALS AND METHODS: Patients with TIA visiting within 7 days of onset were prospectively enrolled from 57 hospitals between June 2011 and December 2013. Clinical characteristics were compared between patients with 3 major subtypes of TVS (transient monocular blindness [TMB], homonymous lateral hemianopia [HLH], and diplopia)...
March 8, 2018: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29508513/nhr-49-hnf4-integrates-regulation-of-fatty-acid-metabolism-with-a-protective-transcriptional-response-to-oxidative-stress-and-fasting
#17
Grace Y S Goh, Johnathan J Winter, Forum Bhanshali, Kelsie R S Doering, Regina Lai, Kayoung Lee, Elizabeth A Veal, Stefan Taubert
Endogenous and exogenous stresses elicit transcriptional responses that limit damage and promote cell/organismal survival. Like its mammalian counterparts, hepatocyte nuclear factor 4 (HNF4) and peroxisome proliferator-activated receptor α (PPARα), Caenorhabditis elegans NHR-49 is a well-established regulator of lipid metabolism. Here, we reveal that NHR-49 is essential to activate a transcriptional response common to organic peroxide and fasting, which includes the pro-longevity gene fmo-2/flavin-containing monooxygenase...
March 5, 2018: Aging Cell
https://www.readbyqxmd.com/read/29481673/macrophage-activation-syndrome-in-adults-recent-advances-in-pathophysiology-diagnosis-and-treatment
#18
Stuart J Carter, Rachel S Tattersall, Athimalaipet V Ramanan
Haemophagocytic lymphohistiocytosis (HLH) is a hyperinflammatory syndrome, which if not promptly treated, can lead rapidly to critical illness and death. HLH is termed macrophage activation syndrome (MAS) when associated with rheumatic disease (where it is best characterized in systemic JIA) and secondary HLH (sHLH) when associated with other triggers including malignancy and infection. MAS/sHLH is rare and coupled with its mimicry of other conditions, is underrecognized. These inherent challenges can lead to diagnostic and management challenges in multiple medical specialties including haematology, infectious diseases, critical care and rheumatology...
February 21, 2018: Rheumatology
https://www.readbyqxmd.com/read/29478654/spatial-and-historical-distribution-of-organic-phosphorus-driven-by-environment-conditions-in-lake-sediments
#19
Changwei Lü, Jiang He, Bing Wang
The chemistry of sedimentary organic phosphorus (OP) and its fraction distribution in sediments are greatly influenced by environmental conditions such as terrestrial inputs and runoffs. The linkage of OP with environmental conditions was analyzed on the basis of OP spatial and historical distributions in lake sediments. The redundancy analysis and OP spatial distribution results suggested that both NaOH-OP (OP extracted by NaOH) and Re-OP (residual OP) in surface sediments from the selected 13 lakes reflected the gradient effects of environmental conditions and the autochthonous and/or allochthonous inputs driven by latitude zonality in China...
February 2018: Journal of Environmental Sciences (China)
https://www.readbyqxmd.com/read/29468169/severe-human-granulocytic-anaplasmosis-with-significantly-elevated-ferritin-levels-in-an-immunocompetent-host-in-pennsylvania-a-case-report
#20
Mona L Camacci, Ronaldo Paolo Panganiban, Zachary Pattison, Kamyar Haghayeghi, Alexander Daly, Cindy Ojevwe, Ryan J Munyon
Human granulocytic anaplasmosis (HGA) is a tick-borne, infectious disease caused by Anaplasma phagocytophilum that generally presents with nonspecific symptoms such as fever, chills, headache, malaise, and myalgia. If not treated immediately, HGA can cause hemophagocytic lymphohistiocytosis (HLH), a well-documented but underrecognized sequela of severe HGA. In this article, we report a case of severe HGA with hyperferritinemia in a 74-year-old male from Central Pennsylvania who initially presented with recurrent fevers, nausea, and malaise to our emergency department and was subsequently discharged home that same day...
January 2018: Journal of Investigative Medicine High Impact Case Reports
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