UNA STRANA RECIDIVA DI “MALATTIA DI KAWASAKI"

UTILITÀ DELLO SCREENING ECO-DOPPLER TIROIDEO NEL DIABETE MELLITO TIPO 1

Triplice mutazione del gene della febbre mediterranea familiare in paziente con malattia di Kawasaki ed infezione da EBV

Trouble always comes in threes: three mutations for three auto inflammatory genes in a child and in his father

The coexistence of mutations in more than one gene, linked to Autoinflammatory Diesases, can confuse and make difficult the diagnosis and management of these patients, especially in childhood, when the clinical history is still brief.

PROFILO ENDOCRINO E DENSITA’ MINERALE OSSEA IN ADOLESCENTI CON COAGULOPATIE CONGENITE IN TERAPIA CON ESTROPROGESTINICI

Non c'é due senza tre: una sindrome autoinfiammatoria "complessa"

Systemic lupus erythematosus and bullous pemphigoid with dramatic response to dapsone

Patient: Female, 11 Final Diagnosis: Bullous pemphigoid in systemic lupus erythematosus Symptoms: Bullous lupus • photosensitive rash • synovitis Medication:— Clinical Procedure: Pharmacological treatment Specialty: Rheumatology Objective: Unusual clinical course Background: Bullous pemphigoid is an autoimmune blistering disease, with relapses, isolated or associated with other autoimmune diseases such as systemic lupus erythematosus (SLE). Joint manifestations rapidly respond to small or moderate doses of corticosteroids, whereas skin manifestations usually respond to antimalarial drugs. Case Report: We describe the clinical case of an 11-year-old girl with SLE. She showed bullous skin les…

Addison Disease and Atrophic Gastritis: High Persistent ACTH Levels Although an Adequate Treatment

Kawasaki disease in Sicily: clinical description and markers of disease severity

Background: Kawasaki disease (KD) is an acute systemic vasculitis of small and middle size arteries; 15-25 % of untreated patients and 5 % of patients treated with intravenous immunoglobulin (IVIG) develop coronary artery lesions (CAL). Many studies tried to find the most effective treatment in the management of resistant KD and to select the risk factors for CAL. Our data are assessed on children from west Sicily, characterized by a genetic heterogeneity. Methods: We studied the clinical data of 70 KD Sicilian children (36 males: 51 %; 34 females: 49 %), analysed retrospectively, including: demographic and laboratory parameters; echocardiographic findings at diagnosis, at 2, 6 and 8 weeks,…

Seidlmayer’s purpura: five cases and review of the literature

SAT0513 Brainstem Auditory Evoked Potentials and Visual Potentials in Kawasaki Disease: Expression of CNS Vasculitis?

Background Kawasaki disease (KD) is an acute, self-limited vasculitis of infants and children that is nowadays the most common cause of acquired heart disease in children. Transient sensorineural hearing loss (20 to 35 dB) is a possible complication of acute phase KD and may be related to salicylate toxicity in some patients. Objectives Brainstem Auditory Evoked Potentials (BAEPs) , and Visual Evoked Potentials (VEPs) were examined in 43 children (age: 0,8-7,5 years) affected by KD. No risk factors for hearing loss and/or neurological impairment of CNS were identified in all the patients. BAEPs showed altered waves II to V, in 18 patients (42%). Among these, in 4 patients (20%) VEPs showed …

Il sostegno multidisciplinare dell'adolescente con patologia reumatologica: progetto pilota della Clinica Pediatrica di Palermo

PReS-FINAL-2088: Risk of severe adverse events in juvenile idiopathic arthritis and pediatric-onset inflammatory bowel disease, treated with anti-tnf drugs

Introduction: Severe adverse events have been described in children affected by Juvenile Idiopathic Arthritis (JIA) and Inflammatory Bowel Disease (IBD) treated with anti-tnf drugs. Objectives: To define the risk of severe adverse events in patients with JIA and IBD treated with anti-tnf drugs. Methods: This is a retrospective cohort study. All patients with JIA and IBD attending the "IRCCS Burlo Garofolo" of Trieste from 2000 to 2012 were enrolled. They were divided into 2 groups on the basis of the presence or absence of anti-tnf exposure. Severe adverse events were considered the followings: a) infections needing anti-tnf permanent suspension and/or hospitalization; b) autoimmune disease…

Una gonartrite postinfettiva: tre virus....un'articolazione

Seidlmayer’s purpura: five cases and review of the litterature

About 100 cases of AHEI have been published in medical literature worldwide. Although initially considered a variant of Henoch-Schonlein purpura (HSP), it is now considered a separate entity: in fact it shows infrequently visceral involvement and IgA skin depositions. Furthermore these patients show a better prognosis than HSP patients. Onset age for AHEI usually ranges between 4 and 24 months but it spreads from birth to 60 months. AHEI, also defined Seidlmayer’s purpura (SP), is characterized by the triad: fever, oedema and purpura. The latter is usually rosette-, annular- or targeted-shaped primarily over the face, ears and extremities in a nontoxic infant. The development and the rapidi…

Risk factors for refractory Kawasaki disease: clinical records of the paediatric clinic of palermo

Kawasaki disease (KD) is an acute, self-limited febrile illness that mainly affecting small- to medium-sized vessels and occurs in early childhood. The etiology is currently unknown, however it likely results from an immunologic response triggered by microbial agents, with documented genetic susceptibility. Intravenous administration of immunoglobulin (IVIG) is the gold standard therapy for coronary arteritis in the acute phase of KD; some patients do not respond to IVIG and coronary aneurysms continue to develop in 5%. The most serious complications are coronary vasculitis and aneurysms. 15% of these patients do not respond to IVIG (Refractory KD:RMK) and have a higher risk of aneurysms.

La porpora di Seidlmayer: descrizione di cinque casi

The labyrinth of autoinflammatory disorders: a snapshot on the activity of a third-level center in Italy.

Autoinflammatory disorders (AIDs) are a novel class of diseases elicited by mutations in genes regulating the homeostasis of innate immune complexes, named inflammasomes, which lead to uncontrolled oversecretion of the proinflammatory cytokine interleukin-1β. Protean inflammatory symptoms are variably associated with periodic fever, depicting multiple specific conditions. Childhood is usually the lifetime in which most hereditary AIDs start, though still a relevant number of patients may experience a delayed disease onset and receive a definite diagnosis during adulthood. As a major referral laboratory for patients with recurrent fevers, we have tested samples from 787 patients in the perio…