@article {8489, title = {The Great Pretender: Pediatric Wandering Spleen: Two Case Reports and Review of the Literature.}, journal = {Pediatr Emerg Care}, year = {2016}, month = {2016 Feb 10}, abstract = {

Wandering spleen is a rare condition, typically not only due to embryological defects of the splenic ligaments, but also secondary to trauma and splenomegaly. The most common presentation is acute abdomen with a mobile abdominal mass or recurrent abdominal pain. However, the spleen may be temporary in its normal position, and patients could be asymptomatic. A familiarity, if present, strengthens the diagnostic suspect.Abdominal ultrasonography and computed tomography are the examination of choice, and the management is surgical.

}, issn = {1535-1815}, doi = {10.1097/PEC.0000000000000642}, author = {Radillo, Lucia and Taddio, Andrea and Ghirardo, Sergio and Bramuzzo, Matteo and Pederiva, Federica and Maschio, Massimo and Barbi, Egidio} } @article {7762, title = {Genetic determinants for methotrexate response in juvenile idiopathic arthritis.}, journal = {Front Pharmacol}, volume = {6}, year = {2015}, month = {2015}, pages = {52}, abstract = {

Juvenile idiopathic arthritis (JIAs) is the most common chronic rheumatic disease of childhood and is an important cause of disability. The folic acid analog methotrexate is the first choice disease-modifying anti-rheumatic drug in this disease, however, 35-45\% of patients fail to respond. Molecular elements, such as variants in genes of pharmacological relevance, influencing response to methotrexate in JIA, would be important to individualize treatment strategies. Several studies have evaluated the effects of candidate genetic variants in the complex pathway of genes involved in methotrexate pharmacodynamics and pharmacokinetics, however, results are still contrasting and no definitive genetic marker of methotrexate response useful for the clinician to tailor therapy of children with JIA has been identified. Recently, genome-wide approaches have been applied, identifying new potential biological processes involved in methotrexate response in JIA such as TGF-beta signaling and calcium channels. If these genomic results are properly validated and integrated with innovative analyses comprising deep sequencing, epigenetics, and pharmacokinetics, they will greatly contribute to personalize therapy with methotrexate in children with JIA.

}, issn = {1663-9812}, doi = {10.3389/fphar.2015.00052}, author = {Pastore, Serena and Stocco, Gabriele and Favretto, Diego and De Iudicibus, Sara and Taddio, Andrea and d{\textquoteright}Adamo, Pio and Malus{\`a}, Noelia and Addobbati, Riccardo and Decorti, Giuliana and Lepore, Loredana and Ventura, Alessandro} } @article {7774, title = {Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study.}, journal = {Pediatr Rheumatol Online J}, volume = {13}, year = {2015}, month = {2015}, pages = {11}, abstract = {

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.

RESULTS: None of 42 patients analyzed displayed a causative genotype. However, single or multiple genetic variants of uncertain significance were detected in 24 subjects. Only in 5 subjects a definite diagnosis was made by taking into account both genetic and clinical data (2 TRAPS syndrome; 2 FMF; 1 FCAS). Statistical analysis showed that patients carrying genetic variants in one or more of the five selected genes displayed a significantly lower response to glucocorticoids compared with subjects who had completely negative genetic results.

CONCLUSIONS: The sequencing of multiple genes is of little help in the diagnostics of PFS and can often lead to results of uncertain interpretation, thus the clinically driven sequencing of single genes should remain the recommended approach. However, the presence of single or multiple genetic variants of uncertain significance, even if not allowing any specific diagnosis, correlated with a poorer response to glucocorticoids, possibly indicating a multifactorial subgroup of PFS with differential response to pharmacological treatment.

}, keywords = {Adolescent, Carrier Proteins, Child, Cryopyrin-Associated Periodic Syndromes, Cytoskeletal Proteins, Familial Mediterranean Fever, Female, Fever, Gene Expression Profiling, Genotype, Hereditary Autoinflammatory Diseases, Humans, Intracellular Signaling Peptides and Proteins, Logistic Models, Male, Mutation, Phosphotransferases (Alcohol Group Acceptor), Prospective Studies, Receptors, Tumor Necrosis Factor, Type I, Syndrome}, issn = {1546-0096}, doi = {10.1186/s12969-015-0006-z}, author = {De Pieri, Carlo and Vuch, Josef and De Martino, Eleonora and Bianco, Anna M and Ronfani, Luca and Athanasakis, Emmanouil and Bortot, Barbara and Crovella, Sergio and Taddio, Andrea and Severini, Giovanni M and Tommasini, Alberto} } @article {1724, title = {Gastroesophageal reflux disease at any cost: a dangerous paediatric attitude.}, journal = {Acta Paediatr}, volume = {100}, year = {2011}, month = {2011 Oct}, pages = {e178-80}, keywords = {Diagnostic Errors, Gastroesophageal Reflux, Humans, Inappropriate Prescribing, Infant, Infant, Newborn, Male, Proton Pump Inhibitors, Spasms, Infantile}, issn = {1651-2227}, doi = {10.1111/j.1651-2227.2011.02315.x}, author = {Taddio, Andrea and Bersanini, Chiara and Basile, Lucio and Fontana, Massimo and Ventura, Alessandro} }