Search results for "PEDIATRIA"

YOLK SAC DEL TESTICOLO: Raro Caso con Metastasi Gigante Retroperitoneale

1989

The authors restorate a case of primary testis tumor (Yolk Sac Tumor) and giant retroperitoneal metastasis clinically evident as a voluminous abdominal mass (23 cm) and associated virilizing syndrome. the diagnostic and therapeutic procedure performed is described.

EPATOBLASTOMI (EPB): UN SUCCESSO DELLA RIUCERCA CLINICA

1994

Dalla revisione della casistica del gruppo di Studio Italiano sui Tumori epatici del Bambino (GSTEB), risulta un miglioramento dell'Outcome di questi pazienti. Gli Autori presentano i risultati dello Studio.

Infliximab and topical tacrolimus administration effective in the treatment of Pyoderma Gangrenosum.

2009

Influencia de un programa de intervención comunitaria sobre el estado de salud de una población semi-rural dominicana

2015

Pensamos que es posible que la intervención sanitaria, aun disponiendo de escasos recursos económicos, basada en la potencia del tejido humano local, mejore el estado de salud de la población diana. Para ello, diseñamos un proyecto de intervención comunitaria, basado en la promoción de hábitos saludables a partir de una consulta pediátrica regular y la formación de agentes de salud comunitaria con implicación voluntaria en la mejora de la situación sanitaria de sus propias comunidades podría resultar efectivo dada la buena recepción local. Es posible que la implementación de programa de intervención comunitaria eficiente, realista y auto sostenible, basado fundamentalmente en la optimizació…

DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling.

2022

Background: Deoxyribonuclease 1 like 3 (DNASE1L3) is a secreted enzyme that has been shown to digest the extracellular chromatin derived from apoptotic bodies, and DNASE1L3 pathogenic variants have been associated with a lupus phenotype. It is unclear whether interferon signaling is sustained in DNASE1L3 deficiency in humans. Objectives: To explore interferon signaling in DNASE1L3 deficient patients. To depict the characteristic features of DNASE1L3 deficiencies in human. Methods: We identified, characterized, and analyzed five new patients carrying biallelic DNASE1L3 variations. Whole or targeted exome and/or Sanger sequencing was performed to detect pathogenic variations in five juvenile …

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

2016

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,…

Idiopathic Seidlmayer's Purpura: A Case Report

2014

Acute hemorrhagic edema of infancy (AHEI) was considered a rare form of Henoch-Schönlein purpura; however, it is now regarded as an independent disease typically involving patients aged 4-24 months. The authors describe the clinical case of a toddler aged 8 months, with skin erythematous pomphoid<b> </b>lesions, treated at home with topical steroids without benefits. The appearance of new lesions and the worsening of the previous skin signs induced the parents to drive the child to the hospital. The medical history revealed the administration of a vaccine dose 2 months before.

Ventricular arrhythmias in children: The uselessness of MRI

2008

IL volume piastrinico medio nei pazienti con febbre mediterranea familiare in età pediatrica

2014

Age-dependent epileptic encephalopathy associated with an unusual co-occurrence of ZEB2 and SCN1A variants.

2020

Mowat-Wilson syndrome is a genetic disorder associated with a variable phenotype including peculiar facial features associated with intellectual disability, epilepsy, language impairment, and multiple congenital anomalies caused by heterozygous mutation of the ZEB2 gene. The ZEB2 protein is a complex transcription factor that encompasses multiple functional domains that interact with the regulatory regions of target genes including those involved in brain development. Recently, it has been documented that ZEB2 regulates the differentiation of interneuron progenitors migrating from the medial ganglionic eminence to cortical layers by repression of the Nkx2-1 homeobox transcription factor. It…