Search results for " Specialist"
showing 10 items of 770 documents
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
Los canecillos de la Capilla del Cementerio de San Juan del Hospital de Valencia
2020
In the medieval cemetery of the Historic Site of San Juan del Hospital of Valencia is housed a small funeral chapel founded in the late thirteenth century by the knight Arnau de Romaní. Along its cornice there are a series of heads of animals and humans that are one of the few sculptural vestiges inserted into the Romanesque iconographic tradition that are preserved in the city. So far they have not aroused the interest of specialists and no one has dedicated a detailed study to these curious and interesting images located in the marginal spaces of such a beautiful building. This article aims to complete this gap addressing the study of the corbels of the small temple, projecting a thematic…
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…
Perinatal management of gastroschisis
2014
Gastroschisis is an abdominal wall defect, typically located to the right of the umbilical cord, requiring an early surgical treatment shortly after birth. Affected patients can be identified during intrauterine life with US and should be delivered in referral hospitals where a multisciplinary approach can be provided, involving neonatologists, clinical geneticists, surgeons and other specialists. These patients require a complex management in Neonatal Intensive Care Unit (NICU) and a long term follow-up after discharge. Exceed the acute neonatal condition, gastroschisis has a good prognosis, if there are no overlapping complications, and it should be differentiated from omphalocele, burden…