Search results for "PEDIATRIA"
showing 10 items of 692 documents
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
2011
Costello syndrome is characterized by severe failure-to-thrive, short stature, cardiac abnormalities (heart defects, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)), distinctive facial features, a predisposition to papillomata and malignant tumors, postnatal cerebellar overgrowth resulting in Chiari 1 malformation, and cognitive disabilities. De novo germline mutations in the proto-oncogene HRAS cause Costello syndrome. Most mutations affect the glycine residues in position 12 or 13, and more than 80% of patients share p.G12S. To test the hypothesis that subtle genotype-phenotype differences exist, we report the first cohort comparison between 12 Costello syndrome individuals with p…
Current Insights on Early Life Nutrition and Prevention of Allergy
2020
The incidence of allergic diseases in childhood appears to have significantly increased over the last decades. Since environmental factors, including diet, have been thought to play a significant role in the development of these diseases, there is great interest in identifying prevention strategies related to early nutritional interventions. Breastfeeding is critical for the immune development of newborns and infants through immune-modulating properties and it impacts the establishment of a healthy gut microbiota. However, the evidence for a protective role of breastfeeding against the development of food allergy in childhood is controversial, and there is little evidence to support the ben…
General anesthesia for oral and dental care in paediatric patients with special needs : a systematic review
2020
Background The objective of this study is to conduct a systematic review of the literature on the characteristics, needs and current situation of dental care for pediatric patients with special needs. Material and methods An exhaustive search for literature published until June 1, 2020. It was carried out using PubMed, Web of Science, Scopus, Cochrane and EBSCO, with the following keywords: Oral Surgical Procedures and Dentistry, Operational and Anesthesia, General Y (Spanish[lang] or English[lang] ) Y (infant[MeSH] Or child[MeSH] Or adolescent[MeSH]). The research was carried out following the PRISMA research methodology. Results The most common indication for general anesthesia (GA) was t…
Prematurity and twinning
2012
Aim of the study: Newborns from multiple pregnancies are increasing in number and demonstrate a higher perinatal morbidity and mortality compared to singletons. Prematurity is the main reason for most neonatal diseases in twins, but other variables may play a role and their prenatal evaluation may improve the overall outcome. Main findings: Prematurity is six times more frequent in twins and therefore birth weight is significantly lower compared to singletons. Thus, twins are more exposed to prematurity related diseases (respiratory, cardiovas- cular, infectious, etc.) and to long-term complications (especially neurological disabilities). Results: It is very difficult to estimate the increa…
High Resolution CT Angiography in Detection of an Aneurysm of the Vein of Galen as a Source of Intracranial Haemorrhage in a Newborn.
2011
Cerebral haemorrhage is a rare condition in infants and carries a known poor prognosis. Common causes of spontaneous haemorrhage include various vascular venous lesions due to incomplete hydrovenous maturation, among them Galen vein aneurysm may be a very rare cause of cerebral haemorrhage. This report emphasizes the role of multidector CT with high resolution CT angiography in a newborn with cerebral hemorrhage caused by Galen vein aneurysm rupture. MDCT with high resolution CT angiography helps to differentiate the cause of haemorrhage, and to address the appropriate treatment.
IL-1 BLOCKADE IN PAEDIATRIC RECURRENT PERICARDITIS: A MULTICENTRIC RETROSPECTIVE STUDY OF THE ITALIAN COHORT
2019
Introduction: Acute pericarditis is an inflammatory condition causing the occurrence of pericardial effusion. In a third of patients, the disease is recurrent. First line treatment of idiopathic pericarditis consists in non-steroidal anti-inflammatory drugs (NSAIDs) and colchicine; glucocorticoids represent the second line treatment in resistant or intolerant cases. A recent clinical trial has enlightened the effectiveness of anakinra in adults and paediatric patients with colchicine-resistant recurrent pericarditis. Objectives: To describe the clinical characteristics and response to treatment in a cohort of paediatric patients with recurrent pericarditis treated with IL inhibitors. Method…
The Health Risks of Electronic Cigarettes Use in Adolescents
2020
The evidence to date suggests that vaping is not a safe alternative to smoking tobacco. This, coupled with the worrying trend of young nonsmokers being attracted to vaping, raises fears of yet another generation suffering from chronic lung disease and other acute and chronic health conditions. Finally, due to the insufficient regulations in several countries, up-to-date data on the prevalence of e-cigarette use and studies on the health's implications of their use are urgently needed to inform policy at a national and international level (ie, European Union). Pediatricians are typically on the front line for identifying emerging risks for children and adolescents ; therefore, they may effec…
The aristaless (Arx) gene: one gene for many "interneuronopathies".
2009
The ARX (Aristaless-related (X-linked) homeobox) gene is not only present in arthropods and their ancestors, but also in vertebrates including humans (ARX orthologs). The gene is composed of 5 coding exons and it is expressed predominantly in foetal and adult brain and skeletal muscle. In this review we report on our experience and review the existing literature on the genotype and phenotype heterogeneity associated with ARX abnormalities in humans ranging from severe neuronal migration defects (e.g., lissencephaly), to mild forms of X-linked mental retardation without apparent brain abnormalities. The ARX-related disorders are reviewed focusing on their clinical features and on the role of…