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Assessment of recurrent fever among children undergoing tonsillectomy.
BMC Pediatr
December 2024
Vanderbilt University School of Medicine, Nashville, TN, USA.
Background: Recurrent tonsillitis is a common indication for tonsillectomy in children and has phenotypic overlap with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome. We sought to characterize symptoms associated with PFAPA among children undergoing tonsillectomy.
Methods: Parents/guardians of children undergoing tonsillectomy at Vanderbilt Children's Hospital over a six-week period were queried regarding symptoms of recurrent fever.
Attempts to identify the molecular cause of autoinflammatory recurrent fever.
Reumatologia
November 2024
Department of Children's Diseases and Pediatric Surgery, I. Horbachevsky Ternopil National Medical University, Ukraine.
Systemic autoinflammatory diseases caused by dysregulation of the innate immunity are a known cause of recurrent fevers. We present the molecular diagnosis results of 12 children with recurrent fever, analyzing the correlation between molecular findings and clinical symptoms. No pathogenic variants confirming autoinflammatory disease were found.
View Article and Find Full Text PDFCrohn's disease after multiple doses of rituximab treatment in a child with refractory nephrotic syndrome and an mutation: a case report.
Front Pediatr
November 2024
Department of Pediatrics, Jinling School of Clinical Medicine, Nanjing Medical University, Nanjing, Jiangsu, China.
inflammatory bowel disease (IBD) in response to rituximab (RTX) has been documented on multiple occasions as a severe adverse effect. However, none of these reports mentioned any genetic variation associated with this complication. We describe the case of a 16-year-old patient with refractory nephrotic syndrome (NS) diagnosed at the age of 6 years, notably with a heterozygous mutation of the gene, who developed Crohn's disease (CD) following ten administrations of RTX.
View Article and Find Full Text PDFClinical, Immunologic, and Genetic Characteristics in Patients with Syndrome of Undifferentiated Recurrent Fevers (SURF).
Arthritis Rheumatol
December 2024
Divisions of Rheumatology.
Background/statement Of Purpose: Syndrome of Undifferentiated Recurrent Fevers (SURF) is characterized by recurrent fevers and autoinflammation without a confirmed molecular diagnosis of a Hereditary Recurrent Fever syndrome (HRF), and not fulfilling criteria for Periodic Fever, Adenitis, Pharyngitis, Aphthous stomatitis syndrome (PFAPA). The goal of this study was to characterize clinical features of SURF patients compared to PFAPA, and to analyze their cytokine signature, genetic variations, and responses to treatment.
Methods: We enrolled 46 patients followed at Cincinnati Children's Hospital Medical Center.
The first proteomics analysis of tonsils in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome (PFAPA).
Pediatr Res
November 2024
Department of Pediatrics, Division of Pediatric Rheumatology, Kocaeli University Faculty of Medicine, Kocaeli, Turkey.
Background: Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome is a recurrent fever syndrome. The exact etiopathogenesis of PFAPA syndrome remains unknown. Biological fluids or tissues may provide disease-specific biomarkers that may help clinicians to find new pathogenic pathways.
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