Search results for " speciali"
showing 10 items of 1100 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…
Dissociable contributions of left and right dorsolateral prefrontal cortex in planning.
2010
It is well established that the mid-dorsolateral prefrontal cortex (dlPFC) plays a critical role in planning. Neuroimaging studies have yielded predominantly bilateral dlPFC activations, but the existence and nature of functionally specific contributions of left and right dlPFC have remained elusive. In recent experiments, 2 independent parameters have been identified which substantially determine planning: 1) the degree of interdependence between consecutive steps (search depth) and 2) the degree to which the configuration of the goal state renders the order of single steps either clearly evident or ambiguous (goal hierarchy). Thus, search depth affects the actual mental generation and eva…
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…
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.
L'eccesso di potere giurisdizionale del giudice della giurisdizione
2012
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 structure of parasite component communities in brackish water fishes of the northeastern Baltic Sea
2001
We used nestedness analysis to seek non-random patterns in the structure of component communities of metazoan parasites collected from 31 sympatric fish species from the northeastern Bothnian Bay, the most oligohaline area of the Baltic Sea. Only 8 marine parasite species were found among the 63 species recorded, although some marine fish species reproduce in the bay and others occasionally visit the area. Marine parasite species can utilize both freshwater and marine fish species as intermediate or final hosts, and marine fish can harbour freshwater parasite species. This exchange of parasite species between marine and freshwater fish has probably resulted from ecological factors acting ov…
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 Diccionario Inglés-Español de Contabilidad: Traducción and the Diccionario Inglés-Español de Contabilidad: Traducción de Frases y Expresiones: Tw…
2014
This paper focuses on the role dictionaries play in a translation situation. This role is analysed in terms of the tenets of the Function Theory of Lexicography, which proposes that users do not have needs in general but punctual needs in specific situations. For example, translators of accounting texts need insertable equivalents whose meanings and language behaviour are clearly described. Furthermore, translators also need contextual data on domain-specific consensual usage. The construction of the Accounting Dictionaries and Diccionarios de Contabilidad reveals that the Function Theory offers theoretical and practical solutions for constructing dictionaries that target user needs in a pr…