0000000000303343
AUTHOR
Sofia Felice
Cefalea persistente in una bambina con rettocolite ulcerosa: pensa alla trombosi venosa
Patients with inflammatory bowel disease have an increased risk of thromboembolic complications, especially during the active phase of the disease. Cerebral thromboembolism is a rare extra-intestinal complication, associated with high risk of morbidity and mortality. Due to the nonspecific clinical presentation and low incidence, a cerebral thromboembolic event may be undiagnosed. For this reason neurological symptoms, such as headache, should not be underestimated in inflammatory bowel disease patients. The paper describes a case of a three-year-old girl with ulcerative colitis complicated by cerebral thrombosis.
PROGETTO DI SMART WORKING DURANTE LA PANDEMIA DI COVID-19: SMART CO-WORKING PER LA RETE ASSISTENZIALE FRA PEDIATRI DI LIBERA SCELTA E UN CENTRO DI RIFERIMENTO IN SICILIA PER L’IPOTIROIDISMO CONGENITO
Obiettivi La pandemia di COVID-19 ha modificato le strategie assistenziali in modo radicale. Le necessità di distanziamento sociale hanno condizionato l’accesso alle cure ospedaliere, con il rischio che i pazienti cronici, più vulnerabili, venissero gestiti con inadeguata interazione con le famiglie e i pediatri di famiglia (PdF), con gravi ritardi diagnostici e terapeutici. Metodi Un questionario con 10 domande sulla gestione dei pazienti con ipotiroidismo congenito (IC) è stato inviato ai PdF della regione Sicilia (Palermo, Agrigento, Trapani, Enna, Caltanissetta, Siracusa). Risultati Hanno risposto 55 PdF che seguono da 2 a 3 pazienti con IC, con prevalenza più elevata in aree ad alta en…
Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene
Abstract Background Cardio-facio-cutaneous syndrome (CFCS) belongs to RASopathies, a group of conditions caused by mutations in genes encoding proteins of the rat sarcoma/mitogen-activated protein kinase (RAS/MAPK) pathway. It is a rare syndrome, with about 300 patients reported. Main clinical manifestations include facial dysmorphisms, growth failure, heart defects, developmental delay, and ectodermal abnormalities. Mutations (mainly missense) of four genes (BRAF, MAP 2 K1, MAP 2 K2, and KRAS) have been associated to CFCS. However, whole gene deletions/duplications and chromosomal microdeletions have been also reported. Specifically, 19p13.3 deletion including MAP 2 K2 gene are responsible…