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Autoinflammatory disease in children

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https://www.readbyqxmd.com/read/28029407/management-of-chronic-spontaneous-urticaria-in-routine-clinical-practice-a-delphi-method-questionnaire-among-specialists-to-test-agreement-with-current-european-guidelines-statements
#1
A Giménez-Arnau, M Ferrer, J Bartra, I Jáuregui, M Labrador-Horrillo, J Ortiz de Frutos, J F Silvestre, J Sastre, M Velasco, A Valero
BACKGROUND: Chronic spontaneous urticaria (CSU) is a frequent clinical entity that often presents a diagnostic and therapeutic challenge. OBJECTIVE: To explore the degree of agreement that exists among the experts caring for patients with CSU diagnosis, evaluation, and management. METHODS: An online survey was conducted to explore the opinions of experts in CSU, address controversial issues, and provide recommendations regarding its definition, natural history, diagnosis, and treatment...
October 28, 2016: Allergologia et Immunopathologia
https://www.readbyqxmd.com/read/27983684/lung-involvement-in-children-with-hereditary-autoinflammatory-disorders
#2
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/27938384/macrophage-activation-syndrome-triggered-by-coeliac-disease-a-unique-case-report
#3
J Palman, J May, C Pilkington
BACKGROUND: Macrophage activation syndrome is described as a "clinical syndrome of hyperinflammation resulting in an uncontrolled and ineffective immune response" in the context of an autoinflammatory or rheumatic disease. Current associations of macrophage activation syndrome with autoimmune disease most notably include a host of rheumatological conditions and inflammatory bowel disease. Epidemiological studies have shown that macrophage activation syndrome is precipitated by autoimmune disease more commonly than previously thought...
December 9, 2016: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/27927641/genetic-architecture-distinguishes-systemic-juvenile-idiopathic-arthritis-from-other-forms-of-juvenile-idiopathic-arthritis-clinical-and-therapeutic-implications
#4
Michael J Ombrello, Victoria L Arthur, Elaine F Remmers, Anne Hinks, Ioanna Tachmazidou, Alexei A Grom, Dirk Foell, Alberto Martini, Marco Gattorno, Seza Özen, Sampath Prahalad, Andrew S Zeft, John F Bohnsack, Norman T Ilowite, Elizabeth D Mellins, Ricardo Russo, Claudio Len, Maria Odete E Hilario, Sheila Oliveira, Rae S M Yeung, Alan M Rosenberg, Lucy R Wedderburn, Jordi Anton, Johannes-Peter Haas, Angela Rosen-Wolff, Kirsten Minden, Klaus Tenbrock, Erkan Demirkaya, Joanna Cobb, Elizabeth Baskin, Sara Signa, Emily Shuldiner, Richard H Duerr, Jean-Paul Achkar, M Ilyas Kamboh, Kenneth M Kaufman, Leah C Kottyan, Dalila Pinto, Stephen W Scherer, Marta E Alarcón-Riquelme, Elisa Docampo, Xavier Estivill, Ahmet Gül, Carl D Langefeld, Susan Thompson, Eleftheria Zeggini, Daniel L Kastner, Patricia Woo, Wendy Thomson
OBJECTIVES: Juvenile idiopathic arthritis (JIA) is a heterogeneous group of conditions unified by the presence of chronic childhood arthritis without an identifiable cause. Systemic JIA (sJIA) is a rare form of JIA characterised by systemic inflammation. sJIA is distinguished from other forms of JIA by unique clinical features and treatment responses that are similar to autoinflammatory diseases. However, approximately half of children with sJIA develop destructive, long-standing arthritis that appears similar to other forms of JIA...
December 7, 2016: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/27864522/comorbidity-between-central-disorders-of-hypersomnolence-and-immune-based-disorders
#5
Lucie Barateau, Régis Lopez, Isabelle Arnulf, Michel Lecendreux, Patricia Franco, Xavier Drouot, Smaranda Leu-Semenescu, Isabelle Jaussent, Yves Dauvilliers
OBJECTIVE: To assess and compare the frequencies of personal and family history of autoimmune diseases (AID), autoinflammatory disorders (ID), and allergies in a population of patients, adults and children, with narcolepsy type 1 (NT1), narcolepsy type 2 (NT2), and idiopathic hypersomnia (IH), 3 central hypersomnia disorders, and healthy controls. METHODS: Personal and family history of AID, ID, and allergies were assessed by questionnaire and medical interview in a large cohort of 450 consecutive adult patients (206 NT1, 106 NT2, 138 IH) and 95 pediatric patients (80 NT1) diagnosed according to the third International Classification of Sleep Disorders criteria in national reference centers for narcolepsy in France and 751 controls (700 adults, 51 children) from the general population...
January 3, 2017: Neurology
https://www.readbyqxmd.com/read/27860302/clinical-and-genetic-association-radiological-findings-and-response-to-biological-therapy-in-seven-children-from-qatar-with-non-bacterial-osteomyelitis
#6
Taha Moussa, Venkatraman Bhat, Vishwanatha Kini, Basil M Fathalla
AIM: We aim to report the clinical manifestations, genetic testing results, magnetic resonance imaging (MRI) findings and biologics used in the management of non-bacterial osteomyelitis in our center. METHODS: We conducted a retrospective review of medical records. A previously proposed classification was implemented as follows: chronic recurrent multifocal osteomyelitis (CRMO), chronic non-bacterial osteomyelitis (CNBO) and acute non-bacterial osteomyelitis. RESULTS: Four females and three males with a median age at presentation of 6 years (6 months-14 years) presented with arthralgia (7/7), back pain (4/7), arthritis (4/7) and bone pain (2/7)...
November 9, 2016: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/27791950/a-novel-assessment-tool-for-clinical-care-of-patients-with-autoinflammatory-disease-juvenile-autoinflammatory-disease-multidimensional-assessment-report
#7
Dilek Konukbay, Marco Gattorno, Dilek Yildiz, Joost Frenkel, Cengizhan Acikel, Betul Sozeri, Balahan Makay, Nuray Aktay Ayaz, Kenan Barut, Aysenur Kisaarslan, Yelda Bilginer, Dursun Karaman, Harun Peru, Dogan Simsek, Ozlem Aydog, Erbil Unsal, Zubeyde Gunduz, Berna Eren Fidanci, Isabelle Kone-Paut, Ozgur Kasapcopur, Angelo Ravelli, Seza Ozen, Erkan Demirkaya
OBJECTIVES: To develop and test a new multidimensional questionnaire for assessment of children with auto-inflammatory disease (AID) such as FMF, PFAPA, HIDS, TRAPS in standard clinical care. METHODS: The juvenile auto-inflammatory disease multidimensional assessment report (JAIMAR) includes 16 parent or patient-centered measures and four dimensions that assess functional status, pain, therapeutic compliance and health-related quality of life (physical, social, school, emotional status) with disease outcome...
September 2016: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/27762188/information-technology-in-paediatric-rheumatology
#8
REVIEW
Alessandro Consolaro, Esi M Morgan, Gabriella Giancane, Silvia Rosina, Stefano Lanni, Angelo Ravelli
Information technology in paediatric rheumatology has seen several exciting developments in recent years. The new multidimensional questionnaires for juvenile idiopathic arthritis, juvenile dermatomyositis, and juvenile autoinflammatory diseases integrate all major parent- and child-reported outcomes (PCROs) used in these diseases into a single tool, and provide an effective guide to manage, document change in health, assess effectiveness of therapeutic interventions, and verify the parent and child satisfaction with illness outcome...
September 2016: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/27694492/inositol-triphosphate-3-kinase-c-mediates-inflammasome-activation-and-treatment-response-in-kawasaki-disease
#9
Martin Prince Alphonse, Trang T Duong, Chisato Shumitzu, Truong Long Hoang, Brian W McCrindle, Alessandra Franco, Stéphane Schurmans, Dana J Philpott, Martin L Hibberd, Jane Burns, Taco W Kuijpers, Rae S M Yeung
Kawasaki disease (KD) is a multisystem vasculitis that predominantly targets the coronary arteries in children. Phenotypic similarities between KD and recurrent fever syndromes point to the potential role of inflammasome activation in KD. Mutations in NLRP3 are associated with recurrent fever/autoinflammatory syndromes. We show that the KD-associated genetic polymorphism in inositol-triphosphate 3-kinase C (ITPKC) (rs28493229) has important functional consequences, governing ITPKC protein levels and thereby intracellular calcium, which in turn regulates NLRP3 expression and production of IL-1β and IL-18...
September 30, 2016: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/27613991/severe-pulmonary-fibrosis-as-the-first-manifestation-of-interferonopathy-tmem173-mutation
#10
Cécile Picard, Guillaume Thouvenin, Caroline Kannengiesser, Jean-Christophe Dubus, Nadia Jeremiah, Frédéric Rieux-Laucat, Bruno Crestani, Alexandre Belot, Françoise Thivolet-Béjui, Véronique Secq, Christelle Ménard, Martine Reynaud-Gaubert, Philippe Reix
We report three cases of pulmonary disease suggesting fibrosis in two familial and one sporadic case. Pulmonary symptoms were associated with various clinical features of systemic inflammation and vasculitis involving the skin, and appeared at different ages. A strong interferon signature was found in all three cases. Disease was not responsive to corticosteroids, and lung transplantation was considered for all three subjects at an early age. One of them underwent double-lung transplantation, but she immediately experienced a primary graft dysfunction and died soon after...
September 2016: Chest
https://www.readbyqxmd.com/read/27590423/serum-levels-of-innate-immunity-cytokines-are-elevated-in-dogs-with-metaphyseal-osteopathy-hypertrophic-osteodytrophy-during-active-disease-and-remission
#11
Noa Safra, Peta L Hitchens, Emanual Maverakis, Anupam Mitra, Courtney Korff, Eric Johnson, Amir Kol, Michael J Bannasch, Niels C Pedersen, Danika L Bannasch
Metaphyseal osteopathy (MO) (hypertrophic osteodystrophy) is a developmental disorder of unexplained etiology affecting dogs during rapid growth. Affected dogs experience relapsing episodes of lytic/sclerotic metaphyseal lesions and systemic inflammation. MO is rare in the general dog population; however, some breeds (Weimaraner, Great Dane and Irish Setter) have a much higher incidence, supporting a hereditary etiology. Autoinflammatory childhood disorders of parallel presentation such as chronic recurrent multifocal osteomyelitis (CRMO), and deficiency of interleukin-1 receptor antagonist (DIRA), involve impaired innate immunity pathways and aberrant cytokine production...
October 15, 2016: Veterinary Immunology and Immunopathology
https://www.readbyqxmd.com/read/27426283/review-of-autoinflammatory-diseases-with-a-special-focus-on-periodic-fever-aphthous-stomatitis-pharyngitis-and-cervical-adenitis-syndrome
#12
REVIEW
Per Wekell, Anna Karlsson, Stefan Berg, Anders Fasth
UNLABELLED: There have been remarkable developments in the field of autoinflammatory diseases over the last 20 years. Research has led to definitions of new conditions, increased understanding of disease mechanisms and specific treatment. The polygenic autoinflammatory condition of periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) is the most common autoinflammatory disorder among children in many parts of the world. The clinical features often include clockwork regularity of episodes, prompt responses to corticosteroids and therapeutic effects of tonsillectomy, but the disease mechanisms are largely unknown...
October 2016: Acta Paediatrica
https://www.readbyqxmd.com/read/27230848/-molecular-and-cellular-pathogenesis-of-cherubism
#13
Yasuyoshi Ueki
Study of rare genetic disorder often provides fundamental insights into the pathology of common diseases. Cherubism is a rare craniofacial disorder in children characterized by the destruction of maxillary and mandibular bones due to expansile fibrous inflammatory lesions. Genetic study of cherubism families discovered that gain-of-function mutations in the signaling adaptor protein SH3BP2 are responsible for cherubism. Analysis of the mouse model revealed that cherubism is an autoinflammatory disorder that is caused by dysregulated signaling pathway mediated by toll-like receptors and spleen tyrosine kinase...
June 2016: Clinical Calcium
https://www.readbyqxmd.com/read/27221306/-chronic-recurrent-multifocal-osteomyelitis-of-the-spine-children-and-adolescent
#14
N H von der Höh, A Völker, D Jeszenszky, C-E Heyde
Chronic non-bacterial osteomyelitis (CNO) in childhood and adolescence is a non-infectious autoinflammatory disease of the bone with partial involvement of adjacent joints and soft tissue. The etiology is unknown. The disease can occur singular or recurrent. Individual bones can be affected and multiple lesions can occur. Chronic recurrent multifocal osteomyelitis (CRMO) shows the whole picture of CNO. Accompanying but temporally independent of the bouts of osteomyelitis, some patients show manifestations in the skin, eyes, lungs and the gastrointestinal tract...
June 2016: Der Orthopäde
https://www.readbyqxmd.com/read/27213830/the-phenotype-and-genotype-of-mevalonate-kinase-deficiency-a-series-of-114-cases-from-the-eurofever-registry
#15
Nienke M Ter Haar, Jerold Jeyaratnam, Helen J Lachmann, Anna Simon, Paul A Brogan, Matteo Doglio, Marco Cattalini, Jordi Anton, Consuelo Modesto, Pierre Quartier, Esther Hoppenreijs, Silvana Martino, Antonella Insalaco, Luca Cantarini, Loredana Lepore, Maria Alessio, Inmaculada Calvo Penades, Christina Boros, Rita Consolini, Donato Rigante, Ricardo Russo, Jana Pachlopnik Schmid, Thirusha Lane, Alberto Martini, Nicolino Ruperto, Joost Frenkel, Marco Gattorno
OBJECTIVES: Mevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by recurrent inflammatory episodes. This study aimed to describe the genotype, phenotype and the response to treatment in an international cohort of MKD patients. METHODS: All MKD cases were extracted from the Eurofever registry (EAHC Project No. 2007332), an international, multicenter registry that retrospectively collects data on children and adults suffering from autoinflammatory diseases...
May 23, 2016: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/27059542/periodic-fever-aphthous-stomatitis-pharyngitis-and-cervical-adenitis-pfapa-syndrome-analysis-of-patients-from-two-geographic-areas
#16
Ezgi D Batu, Fehime Kara Eroğlu, Paul Tsoukas, Jonathan S Hausmann, Yelda Bilginer, Margaret A Kenna, Greg R Licameli, Robert C Fuhlbrigge, Seza Özen, Fatma Dedeoğlu
OBJECTIVE: Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is a periodic fever syndrome of childhood with an unknown etiology. Our aims were to compare the features between PFAPA patients from Turkey and the USA, and patients with and without MEFV variants, and to test the performance of the Eurofever criteria in excluding other autoinflammatory diseases. METHODS: Seventy-one children with PFAPA followed in Hacettepe University, Ankara, Turkey and 60 patients in Boston Children's Hospital, Boston, USA were enrolled...
April 5, 2016: Arthritis Care & Research
https://www.readbyqxmd.com/read/27023528/recurrent-fever-in-children
#17
REVIEW
Sofia Torreggiani, Giovanni Filocamo, Susanna Esposito
Children presenting with recurrent fever may represent a diagnostic challenge. After excluding the most common etiologies, which include the consecutive occurrence of independent uncomplicated infections, a wide range of possible causes are considered. This article summarizes infectious and noninfectious causes of recurrent fever in pediatric patients. We highlight that, when investigating recurrent fever, it is important to consider age at onset, family history, duration of febrile episodes, length of interval between episodes, associated symptoms and response to treatment...
March 25, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/26984802/periodic-fever-aphthous-stomatitis-pharyngitis-and-cervical-adenitis-pfapa-syndrome-a-review-of-the-pathogenesis
#18
REVIEW
Katerina Theodoropoulou, Federica Vanoni, Michaël Hofer
PFAPA syndrome represents the most common cause of recurrent fever in children in European populations, and it is characterized by recurrent episodes of high fever, pharyngitis, cervical adenitis, and aphthous stomatitis. Many possible causative factors have been explored so far, including infectious agents, immunologic mechanisms and genetic predisposition, but the exact etiology remains unclear. Recent findings demonstrate a dysregulation of different components of innate immunity during PFAPA flares, such as monocytes, neutrophils, complement, and pro-inflammatory cytokines, especially IL-1β, suggesting an inflammasome-mediated innate immune system activation and supporting the hypothesis of an autoinflammatory disease...
April 2016: Current Rheumatology Reports
https://www.readbyqxmd.com/read/26939487/-chronic-nonbacterial-osteomyelitis
#19
REVIEW
Paula Keskitalo, Terhi Remes-Pakarinen, Paula Vähäsalo, Jaakko Niinimäki, Liisa Kröger
Chronic nonbacterial osteomyelitis is an autoinflammatory disease occurring mainly in children and adolescents, typically involving recurrent or persistent osteitic foci. The symptom is bone pain, possibly accompanied by soft tissue tenderness. Some patients exhibit symptoms of systemic inflammation. The. precise etiology of the disease is not known, but an imbalance of inflammatory and anti-inflammatory cytokines is presumed to play a role in the development of the disease. While an anti-inflammatory analgesic is in most cases sufficient to calm down the osteitis, the use of corticosteroids, anti- TNF-a inhibitors or bisphosphonates is required in some cases...
2016: Duodecim; Lääketieteellinen Aikakauskirja
https://www.readbyqxmd.com/read/26821543/autoinflammatory-syndromes-in-children
#20
Ruth J Pepper, Helen J Lachmann
Systemic autoinflammatory diseases are rare disorders of innate immunity which usually present in childhood with recurrent or continuous attacks of fever and systemic inflammation. The discovery of the genetic defect underlying Familial Mediterranean fever in 1997 has proved exceptionally informative about the innate immune system and the regulation of pro inflammatory cytokines particularly IL-1. Although extremely rare, systemic autoinflammatory diseases are important to recognise as many can now be completely controlled by long term drug therapies...
March 2016: Indian Journal of Pediatrics
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