Carlo Pieri | Università degli Studi di Udine / University of Udine (original) (raw)
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Papers by Carlo Pieri
Archives of Disease in Childhood, Jul 22, 2014
Clinical and experimental rheumatology, Jan 16, 2015
We aimed to raise awareness among paediatricians and physicians about this often misunderstood co... more We aimed to raise awareness among paediatricians and physicians about this often misunderstood condition. We discussed the clinical profiles associated with late or wrong diagnosis of mevalonate kinase deficency (MKD) in a single centre case series. We analysed the most common challenges and pitfalls that a clinician might face during the diagnostic process. Five main clinical profiles were characterised. We propose a new perspective on MKD, suggesting that the presentation of this disease can vary from patient to patient.
Pediatric Rheumatology, 2014
ABSTRACT
Pediatric Rheumatology, 2014
Background: Periodic fever syndromes (PFS) are an emerging group of autoinflammatory disorders. C... more Background: Periodic fever syndromes (PFS) are an emerging group of autoinflammatory disorders. Clinical overlap exists and multiple genetic analyses may be needed to assist diagnosis. We evaluated the diagnostic value of a 5-gene sequencing panel (5GP) in patients with undiagnosed PFS. Methods: Simultaneous double strand Sanger sequencing of MEFV, MVK, TNFRSF1A, NLRP3, NLRP12 genes was performed in 42 patients with unexplained PFS. Clinical features were correlated with genetic results.
Clinical and experimental rheumatology, Jan 16, 2015
We aimed to raise awareness among paediatricians and physicians about this often misunderstood co... more We aimed to raise awareness among paediatricians and physicians about this often misunderstood condition. We discussed the clinical profiles associated with late or wrong diagnosis of mevalonate kinase deficency (MKD) in a single centre case series. We analysed the most common challenges and pitfalls that a clinician might face during the diagnostic process. Five main clinical profiles were characterised. We propose a new perspective on MKD, suggesting that the presentation of this disease can vary from patient to patient.
Archives of Disease in Childhood, Jul 22, 2014
Clinical and experimental rheumatology, Jan 16, 2015
We aimed to raise awareness among paediatricians and physicians about this often misunderstood co... more We aimed to raise awareness among paediatricians and physicians about this often misunderstood condition. We discussed the clinical profiles associated with late or wrong diagnosis of mevalonate kinase deficency (MKD) in a single centre case series. We analysed the most common challenges and pitfalls that a clinician might face during the diagnostic process. Five main clinical profiles were characterised. We propose a new perspective on MKD, suggesting that the presentation of this disease can vary from patient to patient.
Pediatric Rheumatology, 2014
ABSTRACT
Pediatric Rheumatology, 2014
Background: Periodic fever syndromes (PFS) are an emerging group of autoinflammatory disorders. C... more Background: Periodic fever syndromes (PFS) are an emerging group of autoinflammatory disorders. Clinical overlap exists and multiple genetic analyses may be needed to assist diagnosis. We evaluated the diagnostic value of a 5-gene sequencing panel (5GP) in patients with undiagnosed PFS. Methods: Simultaneous double strand Sanger sequencing of MEFV, MVK, TNFRSF1A, NLRP3, NLRP12 genes was performed in 42 patients with unexplained PFS. Clinical features were correlated with genetic results.
Clinical and experimental rheumatology, Jan 16, 2015
We aimed to raise awareness among paediatricians and physicians about this often misunderstood co... more We aimed to raise awareness among paediatricians and physicians about this often misunderstood condition. We discussed the clinical profiles associated with late or wrong diagnosis of mevalonate kinase deficency (MKD) in a single centre case series. We analysed the most common challenges and pitfalls that a clinician might face during the diagnostic process. Five main clinical profiles were characterised. We propose a new perspective on MKD, suggesting that the presentation of this disease can vary from patient to patient.