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Autoinflammatory disease in children

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https://www.readbyqxmd.com/read/28343210/periodic-fever-aphthous-stomatitis-pharyngitis-and-cervical-adenitis-pfapa-syndrome-in-children
#1
Vira B Semianchuk
INTRODUCTION: Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome refers to a group of primary immunodeficiencies, namely autoinflammatory diseases. Most pediatricians and otolaryngologists do not suspect PFAPA syndrome when treating recurrent pharyngitis (according to Ukrainian classification - tonsillitis) and stomatitis. Therefore, patients with a given syndrome receive unnecessary treatment (antibiotic therapy or antiviral drugs) and the diagnosis is made late...
2017: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28196516/neurological-outcome-of-patients-with-cryopyrin-associated-periodic-syndrome-caps
#2
Nafissa Mamoudjy, Hélène Maurey, Isabelle Marie, Isabelle Koné-Paut, Kumaran Deiva
BACKGROUND: To assess the neurological involvement and outcome, including school and professional performances, of adults and children with cryopyrin-associated periodic syndrome (CAPS). METHODS: In this observational study, patients with genetically proven CAPS and followed in the national referral centre for autoinflammatory diseases at Bicêtre hospital were assessed. Neurological manifestations, CSF data and MRI results at diagnosis and during follow-up were analyzed...
February 14, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28194697/the-diagnostic-evaluation-of-patients-with-a-suspected-hereditary-periodic-fever-syndrome-experience%C3%A2-from%C3%A2-a-referral-center-in-italy
#3
Antonio Vitale, Donato Rigante, Orso Maria Lucherini, Anna De Palma, Ida Orlando, Stefano Gentileschi, Jurgen Sota, Antonella Simpatico, Claudia Fabiani, Mauro Galeazzi, Bruno Frediani, Luca Cantarini
The study aims are to describe the activity of our Unit on the diagnostics of monogenic autoinflammatory diseases (AIDs), and to apply the clinical classification criteria for periodic fevers from the Eurofever Registry to our cohort of patients, thus evaluating their usefulness in the real life. We retrospectively analyzed data from patients referring to our Center for recurrent fever attacks, and undergoing genetic analysis between April 2014 and July 2016, and we applied the classification criteria to both genetically positive and -negative patients...
February 13, 2017: Internal and Emergency Medicine
https://www.readbyqxmd.com/read/28178435/an-up-to-date-approach-to-a-patient-with-a-suspected-autoinflammatory-disease
#4
REVIEW
Merav Lidar, Eitan Giat
Autoinflammatory diseases (AID) are characterized by seemingly unprovoked self-limited attacks of fever and systemic inflammation potentially leading to amyloidosis. Familial Mediterranean fever (FMF) is the most common AID and therefore the most studied. Besides FMF, the other main hereditary AID are tumor necrosis factor-associated periodic fever syndrome (TRAPS), mevalonate kinase deficiency (MKD), and cryopyrin-associated periodic fever syndrome (CAPS). These hereditary diseases result from a mutant gene that is involved in the regulation of inflammation, resulting in a characteristic clinical phenotype...
January 30, 2017: Rambam Maimonides Medical Journal
https://www.readbyqxmd.com/read/28137891/periodic-fever-with-aphthous-stomatitis-pharyngitis-and-cervical-adenitis-syndrome-is-associated-with-a-card8-variant-unable-to-bind-the-nlrp3-inflammasome
#5
Ming Sin Cheung, Katerina Theodoropoulou, Jérôme Lugrin, Fabio Martinon, Nathalie Busso, Michaël Hofer
Periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) is a relatively common autoinflammatory condition that primarily affects children. Although tendencies were reported for this syndrome, genetic variations influencing risk and disease progression are poorly understood. In this study, we performed next-generation sequencing for 82 unrelated PFAPA patients and identified a frameshift variant in the CARD8 gene (CARD8-FS). Subsequently, we compared the frequency of CARD8-FS carriers in our PFAPA cohort (13...
January 30, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
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
#6
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...
March 2017: Allergologia et Immunopathologia
https://www.readbyqxmd.com/read/27983684/lung-involvement-in-children-with-hereditary-autoinflammatory-disorders
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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