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hyperferritinemia

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https://www.readbyqxmd.com/read/29930239/macrophage-activation-syndrome-mas-in-a-recently-released-prisoner-with-systemic-lupus-erythematosus-sle
#1
Robert Szulawski, Peter J Kourlas, Marc Antonchak
BACKGROUND Systemic lupus erythematosus (SLE) has myriad manifestations that can affect any organ system in the body. Macrophage activation syndrome (MAS) is a disease of uncontrolled lymphocyte and macrophage proliferation and activation, which has various triggers, including autoimmune disorder, viral infection, and malignancy. We report here on MAS as a complication of adult SLE, a rare association in the literature, in a patient with an unknown past medical history. CASE REPORT A 38-year-old male patient presented with severe muscle weakness, diffuse abdominal cramps with vomiting and incontinence of stool, confusion, cough, and sweating increasing in severity for about 1 week...
June 22, 2018: American Journal of Case Reports
https://www.readbyqxmd.com/read/29914346/hyperferritinemia-causes-and-significance-in-a-general-hospital
#2
Hajime Senjo, Takakazu Higuchi, Sadamu Okada, Osamu Takahashi
OBJECTIVE: To elucidate conditions which cause elevation of the serum ferritin, extent of the elevation in each condition, and clinical relevance of hyperferritinemia in general practice. METHODS: We retrospectively studied medical records of all patients who had at least one serum ferritin measurement above 500 μg L-1 . Patients who had a marked elevation of the serum ferritin over 10,000 μg L-1 were studied separately. RESULTS: We studied 1394 patients to identify the etiologies of hyperferritinemia...
June 19, 2018: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/29900092/infection-associated-hemophagocytic-lymphohistiocytosis-an-unusual-clinical-masquerader
#3
Awais Abbas, Mohammad Raza, Aamina Majid, Yumna Khalid, Syed Hamza Bin Waqar
Hemophagocytic lymphohistiocytosis (HLH) secondary to an infection is a great impersonator. It is caused by hyperimmune activation, which leads to a wide array of hematological abnormalities. If the disease is untreated, it is usually fatal. We report the case of a four-year-old girl who presented to our tertiary care hospital with high-grade fever, frequent loose stools, and bleeding from the lips and gums. Investigations showed pancytopenia, hyperferritinemia, hypofibrinogenemia, and hypertriglyceridemia whereas the bone marrow biopsy revealed hemophagocytosis with trilineage suppression...
April 12, 2018: Curēus
https://www.readbyqxmd.com/read/29871698/hemophagocytic-lymphohistiocytosis-with-immunotherapy-brief-review-and-case-report
#4
Masood Sadaat, Sekwon Jang
BACKGROUND: Hemophagocytic Lymphohistiocytosis (HLH), a rare but potentially fatal syndrome of immune hyperactivation, may be an under-recognized immune-related adverse event (irAE). Unlike other irAEs, HLH triggered by immune checkpoint blockade is not well described; no particular diagnostic guidelines and treatment regimens exist. The HLH-2004 criteria remain as the common diagnostic guide. For the treatment of HLH, various combinations of chemotherapeutic, immunosuppressive and glucocorticoid agents are used...
June 5, 2018: Journal for Immunotherapy of Cancer
https://www.readbyqxmd.com/read/29843647/haemophagocytic-lymphohistiocytosis-occurred-during-induction-chemotherapy-in-an-acute-monocytic-leukemia-patient-with-flt3-itd-and-dnmt3a-mutations
#5
Fei Li, Xiaojie Zhang, Yunyun Wang, Ailin Yang, Zhanglin Zhang, Weiping Tang, Nan Zhong, Huidong Shi
BACKGROUND: Haemophagocytic lymphohistiocytosis (HLH) is considered to be a large challenge for clinicians due to the variable overlaps of symptoms with other severe diseases and a high rate of mortality. Prompt diagnosis and treatment are crucial to avoid a fatal outcome. However, very limited reports have focused on HLH during chemotherapy (Ch-HLH) due to a low incidence and insufficient knowledge. CASE PRESENTATION: A 22-year-old male was diagnosed with acute monocytic leukemia with FLT3-ITD and DNMT3A mutations and pulmonary infection...
May 29, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29794953/initial-characteristics-and-clinical-severity-of-hemophagocytic-lymphohistiocytosis-in-pediatric-patients-admitted-in-the-emergency-department
#6
Jeong-Yong Lee, Jung Heon Kim, Jong Seung Lee, Jeong-Min Ryu, Jong Jin Seo, Ho Joon Im
OBJECTIVES: The diagnosis and management of children with hemophagocytic lymphohistiocytosis (HLH) admitted in the emergency department (ED) are challenging. The present study aimed at describing the initial characteristics of pediatric patients with HLH upon admission in the ED. Moreover, the clinical severity of the condition was assessed. METHODS: We performed a retrospective study of patients who visited the pediatric ED and were newly diagnosed with HLH during hospitalization between February 2012 and January 2017...
May 23, 2018: Pediatric Emergency Care
https://www.readbyqxmd.com/read/29784018/adding-colchicine-to-immunosuppressive-treatments-a-potential-option-for-biologics-refractory-adult-onset-still-s-disease
#7
Tomoyuki Asano, Makiko Yashiro Furuya, Shuzo Sato, Hiroko Kobayashi, Hiroshi Watanabe, Eiji Suzuki, Kiyoshi Migita
BACKGROUND: Adult-onset Still's disease (AOSD) is a rare inflammatory disorder characterized by the classical triad of daily spiking fever, arthritis, and typical salmon-colored rash. Resistance to first-line corticosteroids and second-line disease modified anti-rheumatic-drugs defines refractory AOSD, which mostly includes the polycyclic or chronic courses of the disease. Anti-cytokine therapies are recommended in AOSD patients who are refractory to traditional treatments. This is the first report on the efficacy of colchicine in a patient with AOSD which was refractory to immunosuppressive treatments including biologics...
May 21, 2018: BMC Research Notes
https://www.readbyqxmd.com/read/29782390/suspecting-hyperferritinemic-sepsis-in-iron-deficient-population-do-we-need-a-lower-plasma-ferritin-threshold
#8
Swarup Ghosh, Arun K Baranwal, Prateek Bhatia, Karthi Nallasamy
OBJECTIVES: Hyperferritinemia is being suggested to identify patients with sepsis-induced macrophage activation syndrome for early intervention. However, data among iron-deficient children are scarce. This study was planned to explore the biological behavior of plasma ferritin in children from communities with a high frequency of iron deficiency with septic shock and its association with the outcome. DESIGN: Prospective observational study. SETTING: Tertiary care teaching hospital in a low-middle income economy of South Asia...
May 18, 2018: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/29780126/a-case-of-intractable-hemophagocytic-syndrome-associated-with-systemic-lupus-erythematosus-resistant-to-corticosteroids-and-intravenous-cyclophosphamide-that-was-successfully-treated-with-cyclosporine-a
#9
Hirofumi Toko, Hiroto Tsuboi, Naoto Umeda, Fumika Honda, Ayako Ohyama, Hidenori Takahashi, Saori Abe, Masahiro Yokosawa, Hiromitsu Asashima, Shinya Hagiwara, Tomoya Hirota, Yuya Kondo, Isao Matsumoto, Takayuki Sumida
Hemophagocytic syndrome (HPS) associated with systemic lupus erythematosus (SLE), dubbed acute lupus hemophagocytic syndrome (ALHS), is an intractable complication of SLE. A 24-year-old man who had been diagnosed with SLE three months previously, presented with fever, rash, hallucination, and pancytopenia accompanied with hyperferritinemia and bone marrow hemophagocytosis. He was diagnosed with ALHS and neuropsychiatric (NP)-SLE. Although 4 courses of methylprednisolone pulse therapy and 1 course of intravenous cyclophosphamide (IVCY) improved his NP-SLE, his ALHS did not respond...
May 18, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29780118/a-10-year-follow-up-study-of-a-japanese-family-with-ferroportin-disease-a-mild-iron-overload-with-mild-hyperferritinemia-co-occurring-with-hyperhepcidinemia-may-be-benign
#10
Hisao Hayashi, Motoyoshi Yano, Naohito Urawa, Akane Mizutani, Shima Hamaoka, Jun Araki, Yuji Kojima, Yutaka Naito, Ayako Kato, Yasuaki Tatsumi, Koichi Kato
This is a 10-year follow-up study of a family with ferroportin disease A. The proband, a 59-year-old man showed no noteworthy findings with the exception of an abnormal iron level. The proband's 90-year-old father showed reduced abilities in gait and cognition; however, with the exception of his iron level, his biochemistry results were almost normal. Brain imaging showed age-matched atrophy and iron deposition. In both patients, the serum levels of ferritin and hepcidin25, and liver CT scores declined over a 10-year period...
May 18, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29595653/type-i-gaucher-disease-with-bullous-pemphigoid-and-parkinson-disease-a-case-report
#11
Damien Le Peillet, Virginie Prendki, Véronique Trombert, Emmanuel Laffitte, Frédéric Assal, Jean Luc Reny, Christine Serratrice
RATIONALE: Gaucher disease (GD) is a rare genetic lysosomal storage disorder inherited in an autosomal recessive pattern. GD is due to the deficiency of a lysosomal enzyme, acid beta-glucosidase (or glucocerebrosidase). Type 1 Gaucher disease (GD1) is characterized by thrombocytopenia, anemia, an enlarged spleen, and liver as well as bone complications (Erlenmeyer flask deformity, osteoporosis, lytic lesions, pathological and vertebral fractures, bone infarcts, and avascular necrosis leading to degenerative arthropathy)...
March 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29513377/quantitative-analysis-of-hepatic-iron-in-patients-suspected-of-coexisting-iron-overload-and-steatosis-using-multi-echo-single-voxel-magnetic-resonance-spectroscopy-comparison-with-fat-saturated-multi-echo-gradient-echo-sequence
#12
Huimin Lin, Caixia Fu, Stephan Kannengiesser, Shu Cheng, Jun Shen, Haipeng Dong, Fuhua Yan
BACKGROUND: The coexistence of hepatic iron and fat is common in patients with hyperferritinemia, which plays an interactive and aggressive role in the progression of diseases (fibrosis, cirrhosis, and hepatocellular carcinomas). PURPOSE: To evaluate a modified high-speed T2 -corrected multi-echo, single voxel spectroscopy sequence (HISTOV) for liver iron concentration (LIC) quantification in patients with hyperferritinemia, with simultaneous fat fraction (FF) estimation...
March 7, 2018: Journal of Magnetic Resonance Imaging: JMRI
https://www.readbyqxmd.com/read/29468169/severe-human-granulocytic-anaplasmosis-with-significantly-elevated-ferritin-levels-in-an-immunocompetent-host-in-pennsylvania-a-case-report
#13
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
https://www.readbyqxmd.com/read/29426274/ftl-c-168g-c-mutation-in-hereditary-hyperferritinemia-cataract-syndrome-a-new-italian-family
#14
Elisa Ferro, Anna Paola Capra, Giuseppina Zirilli, Alessandro Meduri, Mario Urso, Silvana Briuglia, Maria Angela La Rosa
We describe a new Italian family with 7 members affected by hereditary hyperferritinemia cataract syndrome (HHCS), an uncommon autosomal dominant disease caused by mutations of the iron-responsive element (IRE) of the ferritin light chain (FTL) gene determining its overexpression. The family diagnosis of HHCS took place after finding high ferritin levels in a 6-year-old girl. Seven members of the family had bilateral and symmetrical cataracts, normal iron, and hematological parameters except for high serum ferritin levels...
January 1, 2018: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29420734/convergent-pathways-of-the-hyperferritinemic-syndromes
#15
Grant S Schulert, Scott W Canna
Hyperferritinemia and pronounced hemophagocytosis help distinguish a subset of patients with a particularly inflammatory and deadly systemic inflammatory response syndrome. Two clinically similar disorders typify these hyperferritinemic syndromes: hemophagocytic lymphohistiocytosis (HLH) and macrophage activation syndrome (MAS). HLH is canonically associated with a complete disturbance of perforin/granzyme-mediated cytotoxicity, whereas MAS occurs in the context of the related rheumatic diseases systemic juvenile idiopathic arthritis and adult-onset Still's disease, with associated IL-1 family cytokine activation...
April 25, 2018: International Immunology
https://www.readbyqxmd.com/read/29390336/hemophagocytic-lymphohistiocytosis-complicated-by-multiorgan-failure-a-case-report
#16
Federica Lovisari, Valeria Terzi, Monica G Lippi, Paolo R Brioschi, Roberto Fumagalli
RATIONALE: We present a case of hemophagocytic lymphohistiocytosis (HLH) with severe pulmonary complication and acute respiratory distress syndrome (ARDS) hospitalized in our intensive care unit (ICU) in 2014; distinctive trait of this case has been the challenging diagnosis, with a bone marrow biopsy always negative, the severe pulmonary complication with ARDS and severe pulmonary hypertension, and the ferritin temporal kinetics that precisely followed the clinical course of disease...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29371779/hyperferritinemia-in-hemophagocytic-lymphohistiocytosis-a-single-institution-experience-in-pediatric-patients
#17
Surupa Basu, Biplab Maji, Santanu Barman, Apurba Ghosh
Hemophagocytic lymphohistiocytosis (HLH) is an inflammatory condition that may run a rapid fatal course and calls for prompt diagnosis. Early intervention with steroids and other immunosuppressive drugs can contain the disease process and favours positive outcome. Ferritin ≥500 ng/ml is a HLH diagnostic criterion. We evaluated the diagnostic potential of admission ferritin, in children with HLH. Pediatric patients of a referral teaching hospital from Feb 2010-Oct 2013 having been investigated for ferritin on admission were included...
January 2018: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/29342997/-x-linked-inhibitor-of-apoptosis-deficiency-manifested-as-crohn-s-disease-a-case-report-and-literature-review
#18
L J Xu, Y Y Luo, J D Yu, J G Lou, Y H Fang, J Chen
Objective: To analyze the clinical characteristics of X-linked inhibitor of apoptosis (XIAP) deficient patients with clinical manifestation of Crohn's disease. Methods: Clinical manifestations, laboratory investigations, genetic testing and therapeutic interventions of one case of XIAP deficiency who was admitted to Department of Gastroenterology in Children's Hospital, Zhejiang University School of Medicine in May 2016 were summarized. PubMed and Chinese database for articles published from January 2016 to June 2017 were searched using the key words of'Crohn's disease'and'XIAP', and the relevant literature was reviewed...
January 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29305416/involvement-of-hepcidin-in-iron-metabolism-dysregulation-in-gaucher-disease
#19
Thibaud Lefebvre, Niloofar Reihani, Raed Daher, Thierry Billette de Villemeur, Nadia Belmatoug, Christian Rose, Yves Colin-Aronovicz, Hervé Puy, Caroline Le Van Kim, Mélanie Franco, Zoubida Karim
Gaucher disease (GD) is an inherited deficiency of glucocerebrosidase leading to accumulation of glucosylceramide in tissues such as the spleen, liver, and bone marrow. The resulting lipid-laden macrophages lead to the appearance of "Gaucher cells". Anemia associated with an unexplained hyperferritinemia is a frequent finding in GD, but whether this pathogenesis is related to an iron metabolism disorder has remained unclear. To investigate this issue, we explored the iron status of a large cohort of 90 type I GD patients, including 66 patients treated with enzyme replacement therapy...
April 2018: Haematologica
https://www.readbyqxmd.com/read/29295842/unopposed-il-18-signaling-leads-to-severe-tlr9-induced-macrophage-activation-syndrome-in-mice
#20
Charlotte Girard-Guyonvarc'h, Jennifer Palomo, Praxedis Martin, Emiliana Rodriguez, Sabina Troccaz, Gaby Palmer, Cem Gabay
The term macrophage activation syndrome (MAS) defines a severe, potentially fatal disorder characterized by overwhelming inflammation and multiorgan involvement. Interleukin-18 (IL-18) is a proinflammatory cytokine belonging to the IL-1 family, the activity of which is regulated by its endogenous inhibitor IL-18 binding protein (IL-18BP). Elevated IL-18 levels have been reported in patients with MAS. Herein, we show that on repeated toll-like receptor 9 (TLR9) stimulation with unmethylated cytosine guanine dinucleotide containing single-stranded DNA (CpG), IL-18BP -/- mice display severe MAS manifestations, including increased weight loss, splenomegaly, anemia, thrombocytopenia, hyperferritinemia, and bone marrow hemophagocytosis as compared with wild-type mice...
March 29, 2018: Blood
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