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https://www.readbyqxmd.com/read/29031862/pfapa-syndrome-in-a-population-with-endemic-familial-mediterranean-fever
#1
Esra Pehlivan, Amra Adrovic, Sezgin Sahin, Kenan Barut, Ovgu Kul Cınar, Ozgur Kasapcopur
We reviewed the medical records of patients with periodic fever, aphthosis, pharyngitis, and adenitis (PFAPA) to investigate the clinical course, treatment response, and association with MEFV gene mutation. Familial Mediterranean fever should be considered in patients with PFAPA who do not respond to adenotonsillectomy.
October 11, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28970828/diagnostic-criteria-for-adult-onset-periodic-fever-aphthous-stomatitis-pharyngitis-and-cervical-adenitis-pfapa-syndrome
#2
Luca Cantarini, Antonio Vitale, Ludovico Luca Sicignano, Giacomo Emmi, Elena Verrecchia, Isabella Patisso, Lucia Cerrito, Claudia Fabiani, Gabriele Cevenini, Bruno Frediani, Mauro Galeazzi, Donato Rigante, Raffaele Manna
OBJECTIVE: To identify a set of variables that could discriminate patients with adult-onset periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome from subjects with fever of unknown origin (FUO). METHODS: We enrolled 74 adults diagnosed with PFAPA syndrome according to the currently used pediatric diagnostic criteria and 62 additional patients with FUO. After having collected clinical and laboratory data from both groups, univariate and multivariate analyses were performed to identify the variables associated with PFAPA diagnosis...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28882091/measles-lymphadenopathy-in-a-child-with-pfapa-syndrome
#3
Jefferson Terry, Kelly Brown, Joanne Hiebert, Ghada N Al-Rawahi, J Paul Moxham, Mel Krajden, Agatha N Jassem, Lori Tucker
Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is a common cause of periodic fever in children. The pathogenesis of PFAPA is unknown but likely involves immune system dysregulation and may be initiated by an environmental trigger. Tonsillectomy resolves or improves symptoms in some patients, but the reason for this is unknown; moreover, specific abnormalities in tonsillectomy specimens from PFAPA patients have not been described. Here, we report measles virus in tonsil from a child with PFAPA...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28748511/unique-histologic-features-of-tonsils-from-patients-with-periodic-fever-aphthous-stomatitis-pharyngitis-and-cervical-adenitis-pfapa-syndrome
#4
Kalpana Manthiram, Hernan Correa, Kelli Boyd, Joseph Roland, Kathryn Edwards
The objective of this study is to compare the histology and immune cell composition of tonsils from patients with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome to those from patients with obstructive sleep apnea (OSA). Patients with PFAPA and age-matched controls with OSA who had undergone tonsillectomy at Vanderbilt Children's Hospital were recruited. After informed consent, archival paraffin-embedded, formalin-fixed tonsil tissues were obtained. Sizes of major histologic regions were measured...
July 26, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28578473/geoepidemiology-and-immunologic-features-of-autoinflammatory-diseases-a-comprehensive-review
#5
REVIEW
Yvan Jamilloux, Alexandre Belot, Flora Magnotti, Sarah Benezech, Mathieu Gerfaud-Valentin, Emilie Bourdonnay, Thierry Walzer, Pascal Sève, Thomas Henry
The knowledge on systemic autoinflammatory disorders (SAID) is expanding rapidly and new signalling pathways are being decrypted. The concept of autoinflammation has been proposed since 1999, to define a group of diseases with abnormal innate immunity activation. Since then, more than 30 monogenic SAID have been described. In this review, we first describe inflammasomopathies and SAID related to the interleukin-1 pathway. Recent insights into the pathogenesis of familial Mediterranean fever and the function of Pyrin are detailed...
June 3, 2017: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/28557837/unraveling-the-pathogenesis-of-periodic-fever-aphthous-stomatitis-pharyngitis-and-cervical-adenitis-through-genetic-immunologic-and-microbiologic-discoveries-an-update
#6
Kalpana Manthiram, Sivia Lapidus, Kathryn Edwards
PURPOSE OF REVIEW: Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is considered the most common periodic fever syndrome of childhood. Although it was first described three decades ago, the pathogenesis has been poorly understood. Recent studies on the heritability and immunology of the disorder have begun to shed light into the mechanisms of this autoinflammatory disorder. This review will focus on the pathogenesis of PFAPA, especially as it pertains to the genetic susceptibility, tonsillar immunology, and the role of the microbiome...
September 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/28361096/clinical-dose-effect-and-functional-consequences-of-r92q-in-two-families-presenting-with-a-traps-pfapa-like-phenotype
#7
Sylvie Grandemange, Sébastien Cabasson, Guillaume Sarrabay, Jérôme Pène, Cécile Rittore, Elodie Sanchez, Marie-Caroline Chastang, Gaël Guyon, Pascal Pillet, Isabelle Touitou
BACKGROUND: TNF receptor-associated syndrome (TRAPS) is a dominantly inherited autoinflammatory condition caused by mutations in the TNFRSF1A gene. The mechanism underlying the variable expressivity of the common variant R92Q (rs4149584; c.362G>A; p.Arg121Gln) is unclear and is of critical importance for patient care and genetic counseling. This study evaluated the impact of the number of R92Q mutations in two unique unrelated families. METHODS: Two patients with undefined but clear autoinflammatory symptoms were referred for genetic diagnosis...
March 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28343210/periodic-fever-aphthous-stomatitis-pharyngitis-and-cervical-adenitis-pfapa-syndrome-in-children
#8
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/28271158/physicians-perspectives-on-the-diagnosis-and-management-of-periodic-fever-aphthous-stomatitis-pharyngitis-and-cervical-adenitis-pfapa-syndrome
#9
Kalpana Manthiram, Suzanne C Li, Jonathan S Hausmann, Gil Amarilyo, Karyl Barron, Hanna Kim, Simona Nativ, Geraldina Lionetti, Andrew Zeft, Donald Goldsmith, David Kimberlin, Kathryn Edwards, Fatma Dedeoglu, Sivia Lapidus
To assess the practice patterns of pediatric rheumatology and infectious diseases subspecialists in the diagnosis and treatment of periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome. An online survey assessing diagnostic and treatment approaches was sent to 424 members of the Childhood Arthritis and Rheumatology Research Alliance (CARRA) and 980 members of the Pediatric Infectious Disease Society (PIDS). 277 physicians (123 from CARRA and 154 from PIDS representing 21% of the total membership) completed the survey...
June 2017: Rheumatology International
https://www.readbyqxmd.com/read/28207965/is-colchicine-more-effective-to-prevent-periodic-fever-aphthous-stomatitis-pharyngitis-and-cervical-adenitis-episodes-in-mediterranean-fever-gene-variants
#10
Muhammed Gunes, Sukru Cekic, Sara Sebnem Kilic
BACKGROUND: Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome is the most frequent repetitive fever syndrome in childhood. It is characterized by fever episodes lasting for approximately 3-6 days, once every 3-8 weeks. METHODS: Clinical and laboratory data for PFAPA syndrome patients between January 2010 and December 2014 followed up at a tertiary pediatric care hospital were reviewed. RESULTS: Four hundred children (256 male, 144 female; mean age at diagnosis, 4...
June 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28178435/an-up-to-date-approach-to-a-patient-with-a-suspected-autoinflammatory-disease
#11
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/28165838/microarray-analysis-of-circulating-micrornas-in-familial-mediterranean-fever
#12
Taizo Wada, Tomoko Toma, Yusuke Matsuda, Akihiro Yachie, Saori Itami, Yoshihiro Taguchi, Yoshiki Murakami
OBJECTIVES: Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by mutations in MEFV. Mutations in exon 10 are associated with typical FMF phenotypes, whereas the pathogenic role of variants in exons 2 and 3 remains uncertain. Recent evidence suggests that circulating microRNAs are potentially useful biomarkers in several diseases. Therefore, their expression was assessed in FMF. METHODS: The subjects were 24 patients with FMF who were between attacks: 8 with exon 10 mutations (group A), 8 with exon 3 mutations (group B), and 8 without exon 3 or 10 mutations (group C)...
February 6, 2017: Modern Rheumatology
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
#13
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...
March 1, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28025609/indications-for-tonsillectomy-stratified-by-the-level-of-evidence
#14
REVIEW
Jochen P Windfuhr
Background: One of the most significant clinical trials, demonstrating the efficacy of tonsillectomy (TE) for recurrent throat infection in severely affected children, was published in 1984. This systematic review was undertaken to compile various indications for TE as suggested in the literature after 1984 and to stratify the papers according to the current concept of evidence-based medicine. Material and methods: A systematic Medline research was performed using the key word of "tonsillectomy" in combination with different filters such as "systematic reviews", "meta-analysis", "English", "German", and "from 1984/01/01 to 2015/05/31"...
2016: GMS Current Topics in Otorhinolaryngology, Head and Neck Surgery
https://www.readbyqxmd.com/read/28001092/familial-mediterranean-fever-with-p369s-r408q-exon3-variant-in-pyrin-presenting-as-symptoms-of-pfapa
#15
Keiko Yamagami, Tomoyuki Nakamura, Ryota Nakamura, Yusuke Hanioka, Kaori Seki, Hiroshi Chiba, Keiko Kobayashi, Kazunaga Agematsu
Familial Mediterranean fever (FMF) can be classified into typical and incomplete/atypical types. Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) syndrome-like symptoms have been found in atypical type carrying P369S-R408Q mutations in the responsible gene MEFV. A 28-year-old female with recurrent fever and her young sisters and mother, all of whom had tonsillectomy for tonsillitis, carried heterozygous alterations involving E148Q/P369S/R408Q. A diagnosis of atypical FMF, MEFV exon3 variants with PFAPA syndrome-like symptoms, was made...
March 2017: Modern Rheumatology
https://www.readbyqxmd.com/read/27997341/mumps-measles-and-rubella-vaccination-in-children-with-pfapa-syndrome
#16
Barbara Kraszewska-G Omba, Agnieszka Matkowska-Kocjan, Katarzyna Mi Kiewicz, Zofia Szyma Ska-Toczek, Marta Wójcik, Dorota Bany, Leszek Szenborn
There is no published data regarding immunologic response to vaccinations in children with PFAPA syndrome (periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis). The aim of this study was to evaluate mumps, measles and rubella immunity in children with PFAPA. 31 children with PFAPA syndrome and 22 healthy children (control group - CG) were recruited to the study. All children were previously vaccinated with one dose of MMR vaccine according to the Polish obligatory vaccination schedule. The patients from both groups were evaluated for anti-measles, anti-mumps and anti-rubella IgG antibodies concentrations (ELISA tests; the reference values for protective antibody levels were 150IU/L, 16RU/L and 11IU/ml respectively)...
November 21, 2016: Vaccine
https://www.readbyqxmd.com/read/27884268/tonsillectomy-for-incomplete-pfapa
#17
Sarah S Long
No abstract text is available yet for this article.
December 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/27791950/a-novel-assessment-tool-for-clinical-care-of-patients-with-autoinflammatory-disease-juvenile-autoinflammatory-disease-multidimensional-assessment-report
#18
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/27791949/demographic-clinical-and-therapeutic-findings-in-a-monocentric-cohort-of-adult-patients-with-suspected-pfapa-syndrome
#19
Antonio Vitale, Ida Orlando, Giuseppe Lopalco, Giacomo Emmi, Marco Cattalini, Bruno Frediani, Mauro Galeazzi, Florenzo Iannone, Donato Rigante, Luca Cantarini
OBJECTIVES: Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenopathy (PFAPA) syndrome is a non-Mendelian autoinflammatory disorder until now considered to be specifically limited to paediatric age. Recently, an increasing number of reports seems to suggest that PFAPA syndrome, diagnosed by the Marshall criteria revised by Thomas et al., can also affect adults. METHODS: The Marshall/Thomas criteria have been applied to 989 adult patients presenting for recurrent fever episodes: all patients enrolled were reviewed for demographic, clinical, and therapeutic data...
September 2016: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/27692464/long-term-outcome-of-classic-and-incomplete-pfapa-periodic-fever-aphthous-stomatitis-pharyngitis-and-adenitis-syndrome-after-tonsillectomy
#20
COMPARATIVE STUDY
Ulla Lantto, Petri Koivunen, Terhi Tapiainen, Marjo Renko
OBJECTIVE: To compare the effectiveness of tonsillectomy and the long-term outcome of periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome in patients fulfilling the classic diagnostic criteria and in those with regularly recurring fever as the only symptom or with onset of symptoms after age 5 years or both. STUDY DESIGN: We reviewed the medical records of 3852 children who underwent tonsillectomy between 1990 and 2007 and identified 108 children who did so because of regularly recurring fevers...
December 2016: Journal of Pediatrics
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