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tumor necrosis factor receptor-associated periodic syndrome

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https://www.readbyqxmd.com/read/28631068/autoinflammatory-diseases-with-periodic-fevers
#1
REVIEW
Erdal Sag, Yelda Bilginer, Seza Ozen
PURPOSE OF REVIEW: One purpose of this review was to raise awareness for the new autoinflammatory syndromes. These diseases are increasingly recognized and are in the differential diagnosis of many disease states. We also aimed to review the latest recommendations for the diagnosis, management, and treatment of these patients. RECENT FINDINGS: Familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), tumor necrosis factor receptor-associated periodic fever syndrome (TRAPS), and hyperimmunoglobulinemia D and periodic fever syndrome/mevalonate kinase deficiency (HIDS/MVKD) are the more common autoinflammatory diseases that are characterized by periodic fevers and attacks of inflammation...
July 2017: Current Rheumatology Reports
https://www.readbyqxmd.com/read/28536823/efficacy-and-safety-of-anakinra-in-tumor-necrosis-factor-receptor-associated-periodic-syndrome-traps-complicated-by-severe-renal-failure-a-report-after-long-term-follow-up-and-review-of-the-literature
#2
REVIEW
Stefano Gentileschi, Donato Rigante, Antonio Vitale, Jurgen Sota, Bruno Frediani, Mauro Galeazzi, Luca Cantarini
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS), caused by mutations in the TNFRSF1A gene, is the most frequent autosomal dominant autonflammatory disease displaying a relevant risk of reactive AA amyloidosis, if left untreated. Our report deals with one adult with TRAPS complicated by amyloidosis-related renal failure, treated with the recombinant human interleukin-1 receptor antagonist anakinra at a higher than conventional dosage. This treatment did not present any adverse event and led remarkably to the disappearance of all TRAPS-related manifestations and prompt decrease of laboratory abnormalities, including proteinuria...
May 23, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28500690/tumour-necrosis-factor-receptor-associated-periodic-syndrome-mimicking-chronic-spontaneous-urticaria
#3
LETTER
S Aurich, J C Simon, R Treudler
No abstract text is available yet for this article.
May 13, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28497352/monogenic-periodic-fever-syndromes-treatment-options-for-the-pediatric-patient
#4
REVIEW
Seza Ozen, Selcan Demir
Autoinflammatory diseases are disorders of the innate immune system characterized by uncontrolled inflammation. The most commonly encountered autoinflammatory diseases are the hereditary periodic fever syndromes, which present with fever and other features of the skin, serosal membranes, and musculoskeletal system. The main inherited (monogenic) periodic fever syndromes are familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), and hyperimmunoglobulin D syndrome (HIDS)/mevalonate kinase deficiency (MKD)...
August 2017: Paediatric Drugs
https://www.readbyqxmd.com/read/28427379/novel-mutation-identified-in-severe-early-onset-tumor-necrosis-factor-receptor-associated-periodic-syndrome-a-case-report
#5
Suhas M Radhakrishna, Amy Grimm, Lori Broderick
BACKGROUND: Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) is the second most common heritable autoinflammatory disease, typically presenting in pre-school aged children with fever episodes lasting 1-3 weeks. Systemic symptoms can include rash, myalgia, ocular inflammation, and serositis. CASE PRESENTATION: Here we report an unusual presentation of TRAPS in a 7 month old girl who presented with only persistent fever. She was initially diagnosed with incomplete Kawasaki Disease and received IVIG and infliximab; however, her fevers quickly recurred...
April 20, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28426531/high-fat-feeding-protects-mice-from-ventilator-induced-lung-injury-via-neutrophil-independent-mechanisms
#6
Michael R Wilson, Joanne E Petrie, Michael W Shaw, Cong Hu, Charlotte M Oakley, Samantha J Woods, Brijesh V Patel, Kieran P O'Dea, Masao Takata
OBJECTIVE: Obesity has a complex impact on acute respiratory distress syndrome patients, being associated with increased likelihood of developing the syndrome but reduced likelihood of dying. We propose that such observations are potentially explained by a model in which obesity influences the iatrogenic injury that occurs subsequent to intensive care admission. This study therefore investigated whether fat feeding protected mice from ventilator-induced lung injury. DESIGN: In vivo study...
August 2017: Critical Care Medicine
https://www.readbyqxmd.com/read/28396659/disease-phenotype-and-outcome-depending-on-the-age-at-disease-onset-in-patients-carrying-the-r92q-low-penetrance-variant-in-tnfrsf1a-gene
#7
Estíbaliz Ruiz-Ortiz, Estíbaliz Iglesias, Alessandra Soriano, Segundo Buján-Rivas, Marta Español-Rego, Raul Castellanos-Moreira, Adrià Tomé, Jordi Yagüe, Jordi Antón, José Hernández-Rodríguez
BACKGROUND: Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal-dominant autoinflammatory disease caused by mutations in the TNFRSF1A gene. R92Q, a low-penetrance variant, is usually associated with a milder TRAPS phenotype than structural or pathogenic mutations. No studies differentiating R92Q-related disease in patients with pediatric and adult onset have been performed to date. OBJECTIVE: To analyze clinical features and disease outcomes in patients diagnosed with TRAPS associated with R92Q variant and to investigate differences between patients with pediatric and adult disease onset...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28375838/circulating-intercellular-adhesion-molecule-1-sicam-1-in-tumour-necrosis-factor-receptor-associated-periodic-syndrome-traps
#8
Luca Cantarini, Valentina Pucino, Antonio Vitale, Orso Maria Lucherini, Laura Obici, Giuseppe Matarese
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May 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28054230/tumor-necrosis-factor-alpha-and-pregnancy-focus-on-biologics-an-updated-and-comprehensive-review
#9
REVIEW
Jaume Alijotas-Reig, Enrique Esteve-Valverde, Raquel Ferrer-Oliveras, Elisa Llurba, Josep Maria Gris
Tumor necrosis factor-α (TNF-α) is a central regulator of inflammation, and TNF-α antagonists may be effective in treating inflammatory disorders in which TNF-α plays a major pathogenic role. TNF-α has also been associated with inflammatory mechanisms related to implantation, placentation, and pregnancy outcome. TNF-α is secreted by immune cells and works by binding to TNFR1 and TNFR2 cell receptors. TNF-α is also related to JAK/STAT pathways, which opens up hypothetical new targets for modifying. The accurate balance between Th1 cytokines, mainly TNF-α, Th17, and Th2, particularly IL-10 is essential to achieve good obstetric outcomes...
August 2017: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/27990755/efficacy-of-anakinra-in-an-adult-patient-with-recurrent-pericarditis-and-cardiac-tamponade-as-initial-manifestations-of-tumor-necrosis-factor-receptor-associated-periodic-syndrome-due-to-the-r92q-tnfrsf1a-variant
#10
Daniel Camprubí, Francesca Mitjavila, Juan I Arostegui, Xavier Corbella
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a dominantly inherited autoinflammatory disease caused by TNFRSF1A mutations. Patients with TRAPS suffer from recurrent, long episodes with fever, arthralgia/arthritis, migratory myalgias, abdominal pain, serositis, conjunctivitis and migratory erythematous skin rash. More than 70 different TNFRSF1A mutations have been reported to date, and as consequence of its genetic heterogeneity, TRAPS shows a variable phenotypic expression. Among TNFRSF1A variants, the low-penetrance p...
December 19, 2016: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/27983684/lung-involvement-in-children-with-hereditary-autoinflammatory-disorders
#11
REVIEW
Giusyda Tarantino, Susanna Esposito, Laura Andreozzi, Benedetta Bracci, Francesca D'Errico, Donato Rigante
Short-lived systemic inflammatory reactions arising from disrupted rules in the innate immune system are the operating platforms of hereditary autoinflammatory disorders (HAIDs). Multiple organs may be involved and aseptic inflammation leading to disease-specific phenotypes defines most HAIDs. Lungs are infrequently involved in children with HAIDs: the most common pulmonary manifestation is pleuritis in familial Mediterranean fever (FMF) and tumor necrosis factor receptor-associated periodic syndrome (TRAPS), respectively caused by mutations in the MEFV and TNFRSF1A genes, while interstitial lung disease can be observed in STING-associated vasculopathy with onset in infancy (SAVI), caused by mutations in the TMEM173 gene...
December 15, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27793577/a-novel-tnfrsf1a-gene-mutation-in-a-patient-with-tumor-necrosis-factor-receptor-associated-periodic-syndrome
#12
Alireza Khabazi, Mahafarin Maralani, Sasan Andalib, Ebrahim Sakhinia
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a periodic fever syndrome inherited in an autosomal dominant fashion. It stems from mutations in the TNFRSF1A gene that expresses the receptor for tumor necrosis factor α. A patient with TRAPS may present with prolonged episodes of fever attacks, abdominal pain, severe myalgia, and painful erythema on the trunk or extremities. Here, we report the case of an 8-year-old boy with febrile attacks occurring every 1-2months and continuing for 3-4days...
October 19, 2016: Hematology/oncology and Stem Cell Therapy
https://www.readbyqxmd.com/read/27441656/proton-pump-inhibitors-protect-mice-from-acute-systemic-inflammation-and-induce-long-term-cross-tolerance
#13
E Balza, P Piccioli, S Carta, R Lavieri, M Gattorno, C Semino, P Castellani, A Rubartelli
Incidence of sepsis is increasing, representing a tremendous burden for health-care systems. Death in acute sepsis is attributed to hyperinflammatory responses, but the underlying mechanisms are still unclear. We report here that proton pump inhibitors (PPIs), which block gastric acid secretion, selectively inhibited tumor necrosis factor-α (TNF-α) and interleukin-1β (IL-1β) secretion by Toll-like receptor (TLR)-activated human monocytes in vitro, in the absence of toxic effects. Remarkably, the oversecretion of IL-1β that represents a hallmark of monocytes from patients affected by cryopyrin-associated periodic syndrome is also blocked...
2016: Cell Death & Disease
https://www.readbyqxmd.com/read/27332769/clinical-and-genetic-features-of-patients-with-tnfrsf1a-variants-in-japan-findings-of-a-nationwide-survey
#14
Naoyasu Ueda, Hiroaki Ida, Masakazu Washio, Hisaaki Miyahara, Shoji Tokunaga, Fumiko Tanaka, Hiroki Takahashi, Koichi Kusuhara, Koichiro Ohmura, Manabu Nakayama, Osamu Ohara, Ryuta Nishikomori, Seiji Minota, Shuji Takei, Takao Fujii, Yoshiaki Ishigatsubo, Hiroshi Tsukamoto, Tomoko Tahira, Takahiko Horiuchi
OBJECTIVE: To elucidate the clinical and genetic features of patients with TNFRSF1A variants in Japan using data obtained from a nationwide survey conducted by the Ministry of Health, Labor, and Welfare of Japan study group for tumor necrosis factor receptor-associated periodic syndrome (TRAPS). METHODS: Inquiries were sent to 2,900 departments of internal medicine and pediatrics in all hospitals with more than 200 beds in Japan, asking whether they had patients in whom TRAPS was suspected...
November 2016: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/27310036/gene-expression-profile-in-tnf-receptor-associated-periodic-syndrome-reveals-constitutively-enhanced-pathways-and-new-players-in-the-underlying-inflammation
#15
Silvia Borghini, Denise Ferrera, Ignazia Prigione, Michele Fiore, Chiara Ferraris, Valentina Mirisola, Adriana Agnese Amaro, Ilaria Gueli, Luca Zammataro, Marco Gattorno, Ulrich Pfeffer, Isabella Ceccherini
OBJECTIVES: Tumour necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is a multisystemic autoinflammatory condition associated with heterozygous TNFRSF1A mutations, presenting with a variety of clinical symptoms, many of which yet unexplained. In this work, we aimed at deepening into TRAPS pathogenic mechanisms sustained by monocytes. METHODS: Microarray experiments were conducted to identify genes whose expression results altered in patients compared to healthy individuals, both under basal condition and following LPS stimulation...
September 2016: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/27221072/systemic-and-organ-involvement-in-monogenic-autoinflammatory-disorders-a-global-review-filtered-through-internists-lens
#16
REVIEW
Marco Cattalini, Martina Soliani, Giuseppe Lopalco, Donato Rigante, Luca Cantarini
Monogenic autoinflammatory disorders (AIDs) are rare diseases driven by cytokine-mediated extraordinary sterile inflammation that results from the activation of innate immune pathways. The clinical hallmark of these diseases is the recurrence of stereotyped episodes of systemic- and organ-specific inflammation; the most common systems involved being the skin, musculoskeletal system, gastrointestinal tract, and central nervous system. The autoinflammatory disorders may have a profound impact on the quality of life of the affected patients, and a delayed diagnosis may lead to severe complications, the most dreadful of which is AA-Amyloidosis...
September 2016: Internal and Emergency Medicine
https://www.readbyqxmd.com/read/27187378/the-relationship-between-nalp3-and-autoinflammatory-syndromes
#17
REVIEW
Lorna Campbell, Irfan Raheem, Charles J Malemud, Ali D Askari
The nucleotide-binding domain, leucine-rich repeat/pyrin domain-containing-3 (NALP3) inflammasome, which is required for synthesis of interleukin-1β, has been implicated in the pathogenesis of several autoinflammatory syndromes. This review of the literature summarizes the interconnectedness of NALP3 inflammasome with some of these disorders. Familial Mediterranean fever results from a mutation in the Mediterranean fever (MEFV) gene, which encodes the pyrin protein. Previous study results suggest that pyrin suppresses caspase-1 activation, perhaps by competing for the adaptor protein, termed, pyrin domain of apoptosis/speck-like protein containing a caspase-recruitment domain (ACS) which therefore interferes with NALP3 inflammasome activation...
May 13, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27068928/a-comprehensive-overview-of-the-hereditary-periodic-fever-syndromes
#18
Donato Rigante, Bruno Frediani, Luca Cantarini
Innate immunity is a critical partner in the regulation of inflammation and some mutations in genes implied in innate immunity pathways can cause genetic disorders characterized by seemingly unprovoked self-limited inflammatory attacks. These rare conditions are collectively named "hereditary periodic fever syndromes" (HPFS), and protean pathogenetic mechanisms combined with several clinical phenotypes characterize at least four distinct conditions: (1) familial Mediterranean fever, which is the prototype and the most widely recognized among HPFS, inherited as an autosomal recessive disorder showing recurrent dysregulated inflammatory processes, caused by an abnormal interaction between cytoskeleton and inflammasome, a key-signaling platform that releases interleukin-1β (IL-1β); (2) the group of cryopyrin-associated periodic syndrome, which upsets directly the production of IL-1β, with a dominant pattern of inheritance; (3) tumor necrosis factor receptor-associated periodic syndrome, which is an autosomal dominant disorder subverting the functions and traffic of a cell membrane protein; and (4) mevalonate kinase deficiency, which is an autosomal recessive metabolic disorder halting the biosynthesis of cholesterol...
April 11, 2016: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/26915881/kidney-transplant-in-a-patient-with-tumor-necrosis-factor-receptor-1-syndrome-traps-case-report-and-review-of-the-literature
#19
REVIEW
N Rodziewicz, S Bhushan, A Avasia, N Singh
Tumor necrosis factor receptor -1-associated periodic syndrome (TRAPS) is a rare disease that may result in chronic kidney disease due to secondary amyloidosis. We report a case of a patient with a history of TRAPS who received a kidney transplant 11 years ago and still has functioning kidney transplant despite recurrence of amyloidosis and proteinuria.
January 2016: Transplantation Proceedings
https://www.readbyqxmd.com/read/26911944/-role-of-%C3%AE-7-nicotinic-acetylcholine-receptor-in-attenuation-of-endotoxin-induced-delirium-with-dexmedetomidine-in-mice
#20
Xueyan Zhang, Zhifeng Li, Xiaochen Sun, Feng Jin, Junting Liu, Jianguo Li
OBJECTIVE: To observe the role of α7 nicotinic acetylcholine receptor (α7nAChR) in the protection against delirium by the use of dexmedetomidine (DEX) in endotoxin derived delirium and its mechanism. METHODS: 100 male adult C57BL/6 mice were randomly divided into normal saline control group (NS group), DEX control group, lipopolysaccharide (LPS) induced endotoxemia model group (LPS group), DEX protection group (DEX+LPS group), and α-bungarotoxin antagonism group (α-BGT+DEX+LPS group), with 20 mice in each group...
February 2016: Zhonghua Wei Zhong Bing Ji Jiu Yi Xue
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