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hyperferritinemia

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https://www.readbyqxmd.com/read/29595653/type-i-gaucher-disease-with-bullous-pemphigoid-and-parkinson-disease-a-case-report
#1
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
#2
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
#3
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
#4
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
#5
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 (SJIA) and adult-onset Still's disease (AOSD), with associated IL-1 family cytokine activation...
February 6, 2018: International Immunology
https://www.readbyqxmd.com/read/29390336/hemophagocytic-lymphohistiocytosis-complicated-by-multiorgan-failure-a-case-report
#6
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
#7
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
#8
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
#9
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
#10
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
https://www.readbyqxmd.com/read/29295642/clinical-characteristics-therapy-response-and-outcome-of-51-adult-patients-with-hematological-malignancy-associated-hemophagocytic-lymphohistiocytosis-a-single-institution-experience
#11
Fryderyk Lorenz, Monika Klimkowska, Ewa Pawłowicz, Agnes Bulanda Brustad, Martin Erlanson, Maciej Machaczka
Hemophagocytic lymphohistiocytosis (HLH) is an underdiagnosed but life-threatening syndrome of hyperinflammation often occurring in adults with hematological malignancies (hM-HLH). The aim of the study was to describe clinical characteristics, therapy response, and outcome of adults with hM-HLH. The study included 51 adults with hM-HLH aged 23-84 years. Hyperferritinemia ≥500 µg/L was present in 96% of patients. The serum concentration of sIL-2Rα ≥ 2400 U/mL was revealed in 94% of patients. Twenty-three patients (45%) responded to therapy and achieved remission of HLH...
January 3, 2018: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/29280824/a-case-of-relapsing-polychondritis-mimicking-hemophagocytic-lymphohistiocytosis-after-propionibacterium-acnes-infection
#12
William E Monaco, Carey J Field, Thomas H Taylor
We describe a 69-year-old man who presented with a right sternocleidomastoid intramuscular abscess that grew Propionibacterium acnes. Despite initial improvement with antibiotics, he subsequently developed signs and symptoms fulfilling diagnostic criteria for hemophagocytic lymphohistiocytosis (HLH)-fevers, cytopenias, hyperferritinemia, splenomegaly, and low natural killer cell activity. The patient improved spontaneously but at outpatient follow-up complained of erythema over the bridge of his nose as well as bilateral ear redness sparing the earlobes at which point relapsing polychondritis (RP) was diagnosed...
December 27, 2017: Journal of Clinical Rheumatology: Practical Reports on Rheumatic & Musculoskeletal Diseases
https://www.readbyqxmd.com/read/29279647/influenza-b-virus-triggering-macrophage-activation-syndrome-in-an-infant
#13
K Jayashree, Suchetha Rao, Nutan Kamath
Macrophage activation syndrome (MAS) is a potentially fatal complication caused by excessive activation and expansion of macrophages and T lymphocytes. It can be triggered by various infections and is characterized by the development of cytopenias, hyperferritinemia, liver dysfunction, and coagulopathy. We report a 10-month-old female infant with fever, convulsions, and hepatosplenomegaly. Laboratory data of bicytopenia, low erythrocyte sedimentation rate, and elevated liver enzymes suggested MAS. This was supported by the presence of hyperferritinemia with hypertriglyceridemia...
November 2017: Indian Journal of Critical Care Medicine
https://www.readbyqxmd.com/read/29199203/hemophagocytic-syndrome-complicated-with-dermatomyositis-controlled-successfully-with-infliximab-and-conventional-therapies
#14
Yoji Komiya, Tetsuya Saito, Fumitaka Mizoguchi, Hitoshi Kohsaka
A 57-year-old woman was admitted to our hospital because of a high fever, anemia, and hyperferritinemia. Since a bone marrow examination revealed hemophagocytosis, she was diagnosed with hemophagocytic syndrome (HPS). During treatment of HPS, a heliotrope rash and Gottron's sign appeared with elevated levels of serum aldolase. She also developed heart failure. She was diagnosed with dermatomyositis (DM) and associated myocarditis. Although the administration of glucocorticoids, calcineurin inhibitors, intravenous immunoglobulins, and etoposide ameliorated the clinical findings of DM and cytopenia, the fever and hyperferritinemia remained...
2017: Internal Medicine
https://www.readbyqxmd.com/read/29181134/a-nine-month-old-boy-with-atypical-hemophagocytic-lymphohistiocytosis
#15
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/29178470/lymphocyte-independent-pathways-underlie-the-pathogenesis-of-murine-cytomegalovirus-associated-secondary-haemophagocytic-lymphohistiocytosis
#16
E Brisse, M Imbrechts, T Mitera, J Vandenhaute, N Berghmans, L Boon, C Wouters, R Snoeck, G Andrei, P Matthys
Haemophagocytic lymphohistiocytosis (HLH) constitutes a spectrum of immunological disorders characterized by uncontrolled immune activation and key symptoms such as fever, splenomegaly, pancytopenia, haemophagocytosis, hyperferritinaemia and hepatitis. In genetic or primary HLH, hyperactivated CD8+ T cells are the main drivers of pathology. However, in acquired secondary HLH, the role of lymphocytes remains vague. In the present study the involvement of lymphocytes in the pathogenesis of a cytomegalovirus-induced model of secondary HLH was explored...
November 27, 2017: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/29169710/dysmetabolic-iron-overload-syndrome-dios
#17
REVIEW
Yves Deugnier, Édouard Bardou-Jacquet, Fabrice Lainé
Dysmetabolic iron overload syndrome (DIOS) corresponds to mild increase in both liver and body iron stores associated with various components of metabolic syndrome in the absence of any identifiable cause of iron excess. It is characterized by hyperferritinemia with normal or moderately increased transferrin saturation, one or several metabolic abnormalities (increased body mass index with android distribution of fat, elevated blood pressure, dyslipidaemia, abnormal glucose metabolism, steatohepatitis), and mild hepatic iron excess at magnetic resonance imaging or liver biopsy...
December 2017: La Presse Médicale
https://www.readbyqxmd.com/read/29152265/hemophagocytic-syndrome-in-pregnancy-case-report-diagnosis-treatment-and-prognosis
#18
Aline Rousselin, Zarrin Alavi, Emmanuelle Le Moigne, Sarah Renard, Christophe Tremouilhac, Aurélien Delluc, Philippe Merviel
Diagnosis of hemophagocytic syndrome remains a challenge in particular during pregnancy. Concomitant presence of clinical and biological signs, for example, fever, pancytopenia, hyperferritinemia, and hypertriglyceridemia, should alert clinicians to suspect HPS and proceed to prompt treatments.
November 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/29150231/diagnosis-of-hyperferritinemia-in-routine-clinical-practice
#19
REVIEW
Bernard Lorcerie, Sylvain Audia, Maxime Samson, Aurélie Millière, Nicolas Falvo, Vanessa Leguy-Seguin, Sabine Berthier, Bernard Bonnotte
The discovery of hyperferritinemia is often fortuitous, revealed in results from a laboratory screening or follow-up test. The aim of the diagnostic procedure is therefore to identify its cause and to identify or rule out hepatic iron overload, in a three-stage process. In the first step, clinical findings and several simple laboratory tests are sufficient to detect four of the most frequent causes of high ferritin concentrations: alcoholism, inflammatory syndrome, cytolysis, and metabolic syndrome. None of these causes is associated with substantial hepatic iron overload...
December 2017: La Presse Médicale
https://www.readbyqxmd.com/read/29101207/ferroportin-disease-pathogenesis-diagnosis-and-treatment
#20
REVIEW
Antonello Pietrangelo
Ferroportin Disease (FD) is an autosomal dominant hereditary iron loading disorder associated with heterozygote mutations of the ferroportin-1 ( FPN ) gene. It represents one of the commonest causes of genetic hyperferritinemia, regardless of ethnicity. FPN1 transfers iron from the intestine, macrophages and placenta into the bloodstream. In FD, loss-of-function mutations of FPN1 limit but do not impair iron export in enterocytes, but they do severely affect iron transfer in macrophages. This leads to progressive and preferential iron trapping in tissue macrophages, reduced iron release to serum transferrin (i...
December 2017: Haematologica
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