Familial Mediterranean Fever: Perspective and Round on Uncertainties
Introduction: Familial Mediterranean fever (FMF) is a hereditary periodic fever characterized by its autosomal recessive nature. The complexity of its presentation and response to treatment poses significant challenges in diagnosing and managing FMF ...
Haifa Ali Bin Dahman +2 more
doaj +1 more source
A Potential Partnership between Genetics and the Oral Microbiome in Children Displaying Periodic Fever/Aphthosis/Pharyngitis/Adenitis Syndrome. [PDF]
Rigante D, Calò L, Ciavarro A, Galli J.
europepmc +1 more source
ABSTRACT Chronic liver disease (CLD)‐related thrombocytopenia can limit the feasibility of invasive procedures. Recombinant human thrombopoietin (rhTPO) has demonstrated a favorable safety profile without hepatotoxicity. We evaluated the efficacy and safety of rhTPO in patients with CLD‐related thrombocytopenia who were undergoing elective invasive ...
Yifan Han +45 more
wiley +1 more source
The Role of Serum Zinc, Iron, Magnesium, and Selenium Levels in the Pathogenesis of PFAPA Syndrome
Objective: To investigate the potential role of zinc, iron, magnesium, and selenium in the pathogenesis of Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis (PFAPA) syndrome.
Fatma Atalay, Murat Yaşar
doaj +1 more source
Diagnostic performance of routine blood parameters in periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome. [PDF]
Onur H, Onur AR.
europepmc +1 more source
Adult-onset Periodic Fever, Aphthous Stomatitis, Pharyngitis and Cervical Adenitis Syndrome Responsive to Colchicine. [PDF]
Nozu T, Ohhira M, Ishioh M, Okumura T.
europepmc +1 more source
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu +23 more
wiley +1 more source
Anakinra in Paediatric Rheumatology and Periodic Fever Clinics: Is the Higher Dose Safe? [PDF]
Fingerhutová Š +2 more
europepmc +1 more source
Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers
ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen +8 more
wiley +1 more source

