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Autoinflammatory disease in children

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https://www.readbyqxmd.com/read/29287595/dealing-with-chronic-non-bacterial-osteomyelitis-a-practical-approach
#1
REVIEW
Andrea Taddio, Giovanna Ferrara, Antonella Insalaco, Manuela Pardeo, Massimo Gregori, Martina Finetti, Serena Pastore, Alberto Tommasini, Alessandro Ventura, Marco Gattorno
BACKGROUND: Chronic Non-Bacterial Osteomyelitis (CNO) is an inflammatory disorder that primarily affects children. Although underestimated, its incidence is rare. For these reasons, no diagnostic and no therapeutic guidelines exist. The manuscript wants to give some suggestions on how to deal with these patients in the every-day clinical practice. MAIN BODY: CNO is characterized by insidious onset of bone pain with local swelling. Systemic symptoms such as fever, skin involvement and arthritis may be sometimes present...
December 29, 2017: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/29247329/understanding-childhood-diabetes-mellitus-new-pathophysiological-aspects
#2
REVIEW
Juergen Grulich-Henn, Daniela Klose
Diabetes mellitus (DM) is not a single disease, but several pathophysiological conditions where synthesis, release, and/or action of insulin are disturbed. A progressive autoimmune/autoinflammatory destruction of islet cells is still considered the main pathophysiological event in the development of T1DM, but there is evidence that T1DM itself is a heterogeneous disease. More than 50 gene regions are closely associated with T1DM and a variety of epigenetic factors and metabolic patterns have been characterized, which may play a role in the development of T1DM...
December 15, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29239128/efficacy-of-anakinra-in-a-patient-with-systemic-amyloidosis-presented-with-amyloidoma
#3
Hulya Nalcacioglu, Ozan Ozkaya, Gurkan Genc, Suat Ayyildiz, Mehmet Kefeli, Murat Elli, Oguz Aydin, Meltem Ceyhan Bilgici
Amyloidosis is a heterogeneous group of disorders characterized by extracellular deposition of unique protein fibrils. The least common presentation of an amyloid deposition is as a discrete mass called amyloidoma or amyloid tumor. We report a case of a soft tissue amyloidoma in the abdomen of a 16-year-old girl who was diagnosed as having systemic amyloidosis. A girl aged 16 years was referred to our hospital with a pre-diagnosis of a retroperitoneal mass documented with abdominal ultrasonography and tomography...
December 13, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/29229448/characteristics-and-disease-course-in-a-cohort-of-children-with-pfapa-syndrome-in-the-community-of-madrid-spain
#4
María de Las Mercedes Ibáñez Alcalde, Laura Caldevilla Asenjo, Cristina Calvo Rey, Fernando García-Mon Marañés, Daniel Blázquez Gamero, Jesús Saavedra Lozano, María Luisa Navarro Gómez, Teresa Hernández-Sampelayo Matos, Mar Santos Sebastián
INTRODUCTION: PFAPA syndrome is an autoinflammatory disease whose diagnosis is mainly clinical. Several treatments have been proposed; among them, tonsillectomy could be an effective one. MATERIAL AND METHODS: Retrospective multicenter study. Patients included were diagnosed with PFAPA syndrome, according to the Thomas criteria, in 3 hospitals in Madrid between 2009-2013. RESULTS: Thirty-two cases were included. Median age at onset and at diagnosis were 32 months (IQR 24-44) and 47...
December 8, 2017: Reumatología Clinica
https://www.readbyqxmd.com/read/29198619/new-mosaic-tiles-in-childhood-hereditary-autoinflammatory-disorders
#5
REVIEW
Donato Rigante
The protean clinical phenotypes of hereditary autoinflammatory disorders (HAID) are caused by abnormal activation of innate immunity and consist of seemingly unprovoked inflammatory flares localized to multiple organs, such as the skin, joints, serosal membranes, gut, and central nervous system. Different mutations in genes implied in activation of the interleukin-1 (IL-1)-structured inflammasome, cytoskeletal signaling and apoptosis contribute to the pathogenesis of different HAID, which mostly start in childhood with self-limited flares unrelated to infectious agents, autoantibody production or autoreactive cells...
December 1, 2017: Immunology Letters
https://www.readbyqxmd.com/read/29122972/eating-disorders-autoimmune-and-autoinflammatory-disease
#6
Stephanie Zerwas, Janne Tidselbak Larsen, Liselotte Petersen, Laura M Thornton, Michela Quaranta, Susanne Vinkel Koch, David Pisetsky, Preben Bo Mortensen, Cynthia M Bulik
OBJECTIVES: Identifying factors associated with risk for eating disorders is important for clarifying etiology and for enhancing early detection of eating disorders in primary care. We hypothesized that autoimmune and autoinflammatory diseases would be associated with eating disorders in children and adolescents and that family history of these illnesses would be associated with eating disorders in probands. METHODS: In this large, nationwide, population-based cohort study of all children and adolescents born in Denmark between 1989 and 2006 and managed until 2012, Danish medical registers captured all inpatient and outpatient diagnoses of eating disorders and autoimmune and autoinflammatory diseases...
December 2017: Pediatrics
https://www.readbyqxmd.com/read/29079714/tocilizumab-for-the-treatment-of-slc29a3-mutation-positive-phid-syndrome
#7
Nadia K Rafiq, Khalid Hussain, Paul A Brogan
Pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) is associated with recessive mutations in SLC29A3, encoding the equilibrative nucleoside transporter hENT3 expressed in mitochondria, causing PHID and H syndromes, familial Rosai-Dorfman disease, and histiocytosis-lymphadenopathy-plus syndrome. Autoinflammation is increasingly recognized in these syndromes. We previously reported a 16-year-old girl with PHID syndrome associated with severe autoinflammation that was recalcitrant to interleukin-1 and tumor necrosis factor-α blockade...
November 2017: Pediatrics
https://www.readbyqxmd.com/read/29027576/neonatal-ulcerative-colitis-associated-with-familial-mediterranean-fever-a-case-report
#8
Elif Sag, Ferhat Demir, Mustafa Emre Ercin, Mukaddes Kalyoncu, Murat Cakir
Neonatal inflammatory bowel disease (IBD) is a subclass of very early onset IBD that includes children younger than 1 month. It is characterized by more colonic involvement and monogenetic etiology, resistance to classical anti-inflammatory/immunomodulatory treatments and associated with colitis in first-degree family members. Herein we report a 3 month-old girl who was admitted with bloody diarrhea since 10 days of age. Her symptoms persist despite diet elimination. She was diagnosed with neonatal ulcerative colitis (UC) based on clinical, laboratory and histopathological examination...
October 13, 2017: Rheumatology International
https://www.readbyqxmd.com/read/29025800/approach-to-recurrent-fever-in-childhood
#9
REVIEW
Gordon S Soon, Ronald M Laxer
OBJECTIVE: To provide an approach to recurrent fever in childhood, explain when infections, malignancies, and immunodeficiencies can be excluded, and describe the features of periodic fever and other autoinflammatory syndromes. SOURCES OF INFORMATION: PubMed was searched for relevant articles regarding the pathogenesis, clinical findings, diagnosis, prognosis, and treatment of periodic fever and autoinflammatory syndromes. MAIN MESSAGE: Fever is a common sign of illness in children and is most frequently due to infection...
October 2017: Canadian Family Physician Médecin de Famille Canadien
https://www.readbyqxmd.com/read/28983775/deficiency-of-adenosine-deaminase-2-dada2-an-inherited-cause-of-polyarteritis-nodosa-and-a-mimic-of-other-systemic-rheumatologic-disorders
#10
REVIEW
Hasan Hashem, Susan J Kelly, Nancy J Ganson, Michael S Hershfield
PURPOSE OF REVIEW: A new autoinflammatory disease, deficiency of adenosine deaminase 2 (DADA2), caused by mutations in the CECR1 gene, was first reported in 2014. This review aims to update progress in defining, treating, and understanding this multi-faceted disorder. RECENT FINDINGS: DADA2 was first described in patients with systemic inflammation, mild immune deficiency, and vasculopathy manifested as recurrent stroke or polyarteritis nodosa (PAN). More than 125 patients have now been reported, and the phenotype has expanded to include children and adults presenting primarily with pure red cell aplasia (PRCA), or with antibody deficiency...
October 5, 2017: Current Rheumatology Reports
https://www.readbyqxmd.com/read/28900629/siae-rare-variants-in-juvenile-idiopathic-arthritis-and-primary-antibody-deficiencies
#11
Eirini Sevdali, Elena Tsitsami, Maria Tsinti, Evangelia Farmaki, Efimia Papadopoulou-Alataki, Anastasios E Germenis, Matthaios Speletas
Sialic acid acetylesterase (SIAE) deficiency was suggested to lower the levels of ligands for sialic acid-binding immunoglobulin-like receptors, decreasing the threshold for B-cell activation. In humans, studies of rare heterozygous loss-of-function mutations in SIAE gene in common autoimmune diseases, including juvenile idiopathic arthritis (JIA), yielded inconsistent results. Considering the distinct pathogenesis of the two main subtypes of JIA, autoinflammatory systemic (sJIA) and autoimmune oligo/polyarticular (aJIA), and a predisposition to autoimmunity displayed by patients and families with primary antibody deficiencies (PADs), the aim of our study was to analyze whether SIAE rare variants are associated with both the phenotype of JIA and the autoimmunity risk in families with PADs...
2017: Journal of Immunology Research
https://www.readbyqxmd.com/read/28814674/rilonacept-maintains-long-term-inflammatory-remission-in-patients-with-deficiency-of-the-il-1-receptor-antagonist
#12
Megha Garg, Adriana A de Jesus, Dawn Chapelle, Paul Dancey, Ronit Herzog, Rafael Rivas-Chacon, Theresa L Wampler Muskardin, Ann Reed, James C Reynolds, Raphaela Goldbach-Mansky, Gina A Montealegre Sanchez
BACKGROUND: Deficiency of IL-1 receptor antagonist (DIRA) is a rare autoinflammatory disease that presents with life-threatening systemic inflammation, aseptic multifocal osteomyelitis, and pustulosis responsive to IL-1-blocking treatment. This study was performed (a) to investigate rilonacept, a long-acting IL-1 inhibitor, in maintaining anakinra-induced inflammatory remission in DIRA patients, (b) to determine doses needed to maintain remission, and (c) to evaluate the safety and pharmacokinetics of rilonacept in young children (<12 years)...
August 17, 2017: JCI Insight
https://www.readbyqxmd.com/read/28693592/bone-metabolism-and-inflammatory-characteristics-in-14-cases-of-chronic-nonbacterial-osteomyelitis
#13
Yurika Ata, Yutaka Inaba, Hyonmin Choe, Naomi Kobayashi, Jiro Machida, Naoyuki Nakamura, Tomoyuki Saito
BACKGROUND: Chronic nonbacterial osteomyelitis (CNO) is a multifocal autoinflammatory disease that often impairs daily life in children. This study aimed to investigate the bone metabolic and inflammatory characteristics of patients with CNO, and to assess the differences between responders and nonresponders to conservative treatment. METHODS: We investigated the clinical symptoms; laboratory data including inflammatory and bone metabolic biomarkers; and imaging findings from plain radiography, magnetic resonance imaging (MRI), fluorodeoxyglucose-positron emission tomography (FDG-PET), and dual-energy x-ray absorption (DEXA) in 14 patients with CNO...
July 11, 2017: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/28690860/the-detection-of-a-novel-insertion-mutation-in-exon-2-of-the-mefv-gene-associated-with-familial-mediterranean-fever-in-a-moroccan-family
#14
Touhami Mejtoute, Hanane Sayel, Jamila El-Akhal, Fatima Z Moufid, Laila Bouguenouch, Ihssane El Bouchikhi, Mustapha Hida, Driss Couissi, Karim Ouldim
Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease that is inherited in an autosomal recessive manner and is caused by mutations in the MEFV gene. As the name indicates, FMF occurs within families and is more common in individuals of Mediterranean descent than in persons of any other ethnicity. To date, 314 mutations have been reported. We studied a Moroccan family with a total of five members, including a mother who was presenting with symptoms of FMF, while her four children remained asymptomatic...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28585601/canakinumab-treatment-in-four-children-with-colchicine-resistant-familial-mediterranean-fever
#15
Solmaz Ozkan, Bulent Atas
Familial Mediterranean Fever (FMF) is an autosomal recessive and autoinflammatory disease, characterized with inflammation of serous membranes such as peritoneum, pleura, synovium with fever and pain. Colchicine is the main treatment of FMF, but 5-10 % of patients are unresponsive to colchicine. We report using anti-interleukin-1 agents anakinra and canakinumab in four colchicine-resistant patients who were successfully treated. Three of the patients were siblings.
June 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28581880/does-familial-mediterranean-fever-affect-cognitive-function-in-children-electrophysiological-preliminary-study
#16
Gonca Keskindemirci, Gökçer Eskikurt, Nuray Aktay Ayaz, Mustafa Çakan, Numan Ermutlu, Ümmühan İşoğlu Alkaç
OBJECTIVES: Familial Mediterranean fever (FMF) is a periodic autoinflammatory disease with subclinical inflammation occurring between attacks. The aim of the study was to prospectively evaluate the cognitive function of children diagnosed with FMF that were under colchicine therapy and compare them with healthy controls through electrophysiologically event-related potentials (ERPs) study. METHODS: Twelve children with FMF and 12 healthy controls were included in the study...
June 22, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28461645/treatment-response-and-longterm-outcomes-in-children-with-chronic-nonbacterial-osteomyelitis
#17
Anja Schnabel, Ursula Range, Gabriele Hahn, Reinhard Berner, Christian M Hedrich
OBJECTIVE: The autoinflammatory bone disorder chronic nonbacterial osteomyelitis (CNO) covers a wide clinical spectrum, ranging from mild self-limited presentations to chronically active or recurrent courses, which are then referred to as chronic recurrent multifocal osteomyelitis (CRMO). Little is known about treatment options and longterm outcomes. We investigated treatment responses and outcomes in children with CNO. METHODS: A retrospective chart review was conducted in a tertiary referral center, covering 2004-2015...
July 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28427379/novel-mutation-identified-in-severe-early-onset-tumor-necrosis-factor-receptor-associated-periodic-syndrome-a-case-report
#18
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/28400731/il-1-inhibition-may-have-an-important-role-in-treating-refractory-kawasaki-disease
#19
REVIEW
Perrine Dusser, Isabelle Koné-Paut
Kawasaki disease (KD) is an acute inflammatory vasculitis occurring in young children before 5 years and representing at this age, the main cause of acquired heart disease. A single infusion of 2 g/kg of intravenous immunoglobulins along with aspirin has reduced the frequency of coronary artery aneurysms from 25 to 5%. However, 10-20% of patients do not respond to standard treatment and have an increased risk of cardiac complications and death. The development of more potent therapeutic approaches of KD is an urgent need...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28343210/periodic-fever-aphthous-stomatitis-pharyngitis-and-cervical-adenitis-pfapa-syndrome-in-children
#20
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
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