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Your search keyword '"Autoinflammatory Disorders"' showing total 7 results
Start Over Descriptor "Autoinflammatory Disorders" Journal pediatric rheumatology online journal
7 results on '"Autoinflammatory Disorders"'

1. Behçet Disease (BD) in two siblings affected with Familial Mediterranean Fever (FMF)

Author

F La Torre, C Fede, Fernanda Falcini, N Decembrino, G Calcagno, and Antonio Vitale

Subjects
Pediatrics, medicine.medical_specialty, Abdominal pain, lcsh:Diseases of the musculoskeletal system, Exudative pharyngitis, Familial Mediterranean fever, chemistry.chemical_compound, Rheumatology, Internal medicine, medicine, Colchicine, Immunology and Allergy, Medical history, Pediatrics, Perinatology, and Child Health, Behcet disease, business.industry, lcsh:RJ1-570, lcsh:Pediatrics, medicine.disease, chemistry, Pediatrics, Perinatology and Child Health, Poster Presentation, medicine.symptom, lcsh:RC925-935, business, Autoinflammatory Disorders
Abstract

Their medical history of recurrent fever attacks started at the age of 14 and 6 months respectively. Fever was accompanied by cervical adenopathy, severe exudative pharyngitis, oral aphtosis, abdominal pain and diarrhoea, sometimes with bloody stools. At the age of 10 and 9 years, screening for autoinflammatory disorders was performed revealing a single mutated FMF gene (E148Q). Since they fulfilled Tel Hashomer criteria, colchicine was started.

Published
2008

2. Anakinra as a diagnostic challenge and treatment option for systemic autoinflammatory disorders of undefined genetic cause

Author

Sinisa Savic, Dennis McGonagle, Stephanie R Harrison, S Nizam, and M McDermot

Subjects
medicine.medical_specialty, Anakinra, business.industry, Treatment options, Rheumatology, Internal medicine, Pediatrics, Perinatology and Child Health, Poster Presentation, Medicine, Immunology and Allergy, Pediatrics, Perinatology, and Child Health, business, Intensive care medicine, Autoinflammatory Disorders, medicine.drug
Published
2015

3. Altered cytokine pattern and inflammatory pathways in monogenic and complex autoinflammatory diseases

Author

Leonardo Punzi, Ola H. Negm, Patrick J. Tighe, Paola Galozzi, Ian Todd, and Paolo Sfriso

Subjects
medicine.medical_specialty, business.industry, medicine.medical_treatment, Familial Mediterranean fever, medicine.disease, Bioinformatics, Rheumatology, Cytokine, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Immunology and Allergy, Oral Presentation, Inflammatory pathways, Pediatrics, Perinatology, and Child Health, Autoinflammatory disease, business, Autoinflammatory Disorders
Abstract

Autoinflammatory disorders (AIDs) are a group of innate immunity-related diseases, characterized by seemingly unprovoked inflammatory episodes mainly involving skin, eyes and joints. They can be categorized into hereditary monogenic and multifactorial complex disorders. The inflammatory mechanisms underlying both monogenic and complex AIDs are not completely understood.

Published
2015

4. PReS-FINAL-2226: Assessment of autonomic functions in children with Familial Mediterranean Fever by using heart rate variability measurements

Author

A Kilic, Cengizhan Acikel, Seza Ozen, Faysal Gok, Erkan Demirkaya, Kursat Fidanci, Mustafa Gülgün, and Çocuk Sağlığı ve Hastalıkları

Subjects
Autonomic function, medicine.medical_specialty, Pediatrics, business.industry, Familial Mediterranean fever, medicine.disease, Rheumatology, Sudden cardiac death, Serous fluid, Recurrent fever, Internal medicine, Pediatrics, Perinatology and Child Health, Poster Presentation, medicine, Cardiology, Heart rate variability, Immunology and Allergy, Pediatrics, Perinatology, and Child Health, business, Autoinflammatory Disorders
Abstract

Familial Mediterranean Fever (FMF) is an autoinflammatory disorder characterized by recurrent fever associated with inflammation of serous membranes. There is no study reporting the assessment of autonomic functions by using heart rate variability (HRV) in children with FMF. HRV is a practical and reliable method for evaluation of autonomic functions. HRV studies have pointed to the presence of autonomic dysfunctions in many autoinflammatory disorders, possible contributing factors to ventricular tachyarrhythmias and sudden cardiac death in these patients.

Published
2013

5. P02-007 - Childhood autoinflammatory disorders in Qatar

Author

Basil M. Fathalla, Taha Moussa, Hatem El-Shanti, B Aladbe, A Aly, F Al Amry, and Rowaida Z. Taha

Subjects
High rate, Pediatrics, medicine.medical_specialty, education.field_of_study, business.industry, Population, Familial Mediterranean fever, Consanguinity, medicine.disease, Rheumatology, Pediatrics, Perinatology and Child Health, Meeting Abstract, medicine, Immunology and Allergy, Pediatrics, Perinatology, and Child Health, Clinical phenotype, education, business, Autoinflammatory Disorders
Abstract

A multi-ethnic background with high rates of consanguinity characterizes the population living in Qatar. Understanding the uniqueness of clinical presentation of autoinflammatory disorders (AID) in this population will enhance our knowledge in regards to the spectrum of clinical phenotype and prevalence of mutations in our region.

Published
2013

6. PW02-005 - A web registry of genotype-phenotype correlation

Author

Martina Finetti, N Ruperto, Silvia Federici, Marco Gattorno, Isabella Ceccherini, A Naselli, Roberta Caorsi, Matteo Doglio, Riccardo Papa, and Alberto Martini

Subjects
medicine.medical_specialty, business.industry, Autosomal dominant trait, Bioinformatics, Compound heterozygosity, Rheumatology, Genotype phenotype, Correlation, Internal medicine, Pediatrics, Perinatology and Child Health, Meeting Abstract, Medicine, Immunology and Allergy, Pediatrics, Perinatology, and Child Health, business, Clinical phenotype, Single mutation, Autoinflammatory Disorders
Abstract

The possible range of clinical manifestations associated to the different mutations associated to autoinflammatory disorders is still largely unknown. A registry of hereditary auto-inflammatory disorders mutations is available on the web (Infevers, http://fmf.igh.cnrs.fr/ISSAID/infevers/). This registry gathers updated information on all mutations responsible for hereditary inflammatory disorders. The clinical phenotype associated with the single mutation in the first reported case is also available.

Published
2013

7. Deregulation of the IL-1β axis in chronic recurrent multifocal osteomyelitis.

Author

Scianaro R, Insalaco A, Bracci Laudiero L, De Vito R, Pezzullo M, Teti A, De Benedetti F, and Prencipe G

Subjects
Adolescent, Apoptosis genetics, Biopsy, CARD Signaling Adaptor Proteins, Child, Child, Preschool, Female, Humans, Immunohistochemistry, Inflammasomes genetics, Lipopolysaccharides pharmacology, Male, Osteoclasts metabolism, Osteoclasts pathology, Patient Acuity, Signal Transduction genetics, Bone and Bones metabolism, Bone and Bones pathology, Caspase 1 genetics, Cytoskeletal Proteins genetics, Interleukin-1beta genetics, Leukocytes, Mononuclear metabolism, Leukocytes, Mononuclear pathology, Osteomyelitis genetics, Osteomyelitis immunology, Osteomyelitis pathology
Abstract

Background: This study aims to investigate the inflammasome response in peripheral blood mononuclear cells (PBMCs) and the expression of inflammasome components in bone biopsies from patients with chronic recurrent multifocal osteomyelitis (CRMO)., Methods: The expression of inflammasome components mRNAs was evaluated in PBMCs isolated from 15 CRMO patients and 13 healthy controls by quantitative real-time PCR. The Interleukin (IL)-1β released in the medium of PBMC cultures after treatment with lipopolysaccharides (LPS) alone or LPS and ATP was measured by ELISA. Immunohistochemical staining for Apoptosis-associated Speck-like protein (ASC), caspase-1 (CASP-1), Nod-like receptor protein-3 (NLRP3) and IL-1β expression was performed in bone biopsies from CRMO patients., Results: mRNA levels of ASC, CASP-1 and IL-1β were significantly higher in freshly isolated PBMCs from CRMO patients in active disease than in healthy controls. CASP-1 and IL-1β transcript levels were significantly higher also in PBMCs from CRMO patients in remission compared to healthy controls. PBMCs from CRMO patients in active disease stimulated in vitro with LPS showed a significant increase in IL-1β release compared to healthy control cells. Immunohistochemistry staining of bone tissue revealed the expression of inflammasome components in CRMO osteoclasts., Conclusions: Our data suggest that an abnormal regulation of IL-1β axis may be involved in CRMO pathogenesis.

Published
2014
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