Search results for " Specialist"

Sindrome da microduplicazione 17p13.3: caratterizzazione di una nuova regione critica per la variante clinica con palatoschisi

2016

Sindrome da microduplicazione 17p13.3, palatoschisi

TIROIDITE AUTOIMMUNE IN S. DI LOWE: SEGNALAZIONE DI UNA NUOVA ASSOCIAZIONE

2009

Sindrome di S.A.P.H.O. e acne fulminans: storia di una rara associazione

2014

Initial surgery for localized rhabdomyosarcoma: a report from the italian Soft Tissue Sarcoma Cooperative Group Studies.

2005

Objective. Analysis of the initial surgical approach in patients with localized rhabdomyosarcoma, enrolled in Italian Studies (1979-2003). Methods. Surgical records of 587 patients were evaluated. As primary surgery, the excision was recommended if microscopically complete, otherwise biopsy was preferable. Results. The initial biopsy, performed in almost 50% of patients in RMS-79 protocol, has been adopted more often in the protocol RMS-88 and 96. However, the “complete resection” rate has remained quite stable through the years, as well as the percentage of microscopic residue. The macroscopic residue disease has been more important in RMS-88 study than in RMS-96. Most GUnBP tumors and abo…

Deletion of NSD1 exon 14 in Sotos syndrome: first description.

2010

Sport e patologie croniche: cosa fare ?

2012

TERAPIA CON SURFACTANTE PER VIA AEROSOLICA NELL’INALAZIONE DA BOROTALCO

2009

Pediatric Systemic Multi-Inflammatory Diseases in Italy During Sars-Cov-2 Epidemic: From Kawasaki Disease To Kawacovid

2020

Introduction: Italy was affected by the SARS-CoV-2 epidemic after its outbreak in China. With a 4-weeks delay after the peak in adults, we observed an abnormal number of patients with characteristics of a multi-inflammatory disease and similarities with Kawasaki Disease (KD). Others reported similar cases, defined PIMS-TS or MIS-C.1,2 Objectives: To better characterize clinical features and treatment response of PIMS-TS and to explore its relationship with KD. Methods: We conducted an observational, retrospective, multicenter study. On April 24th-2020 the Rheumatology Study Group of the Italian Pediatric Society launched a national online survey, to enroll patients diagnosed with KD or with…

Canakinumab in systemic juvenile idiopathic arthritis: clinical inactive disease rate and safety in italian patients

2019

Introduction: Systemic juvenile idiopathic arthritis (sJIA) is a polygenic autoinflammatory disease. The pathophysiology is still unclear, it is now well known that innate immune mechanisms play a central role with overproduction of inflammatory cytokines. The increased knowledge on the role of these cytokines has provided a change in the natural history of the disease with the introduction of the targeted treatments. Remarkable results has been observed with canakinumab, an anti-interleukin-1β monoclonal antibody, in two clinical trials but little information are available in real life. Objectives: To evaluate clinical inactive disease rate and safety of canakinumab in Italian patients wit…

Genetic and clinical profile of a sicilian population with R92Q mutation

2017

Gene TNFRSF1A mutation is linked to TRAPS, autosomal dominant Autoinflammatory Disease (AID) with recurrent attacks of fever (2-3 weeks long), abdominal pain, vomiting, serositis, arthralgia and/or arthritis, myalgia, fasciitis, rash. The disease starts precociously and amyloidosis is reported in the 25% of the patients. Patients carrying the mutation R92Q usually show a mild clinical phenotype, with an extreme interindividual variability. Arthralgia and serositis are frequently less severe, however oral ulcers and pharyngitis are recurrent. Objectives: We studied the clinical and biochemical impact of the mutation R92Q in our population and the treatment outcome in all the patients with cl…