1,721,033 research outputs found
TRASLOCAZIONI RECIPROCHE ASSOCIATE AD ANOMALIE FENOTIPICHE CHE: PRESENTAZIONE DI 4 CASI.
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STUDIO DELLA EZIOLOGIA DELLE ANOMALIE CROMOSOMICHE NELLE NEOPLASIE UMANE: POLIMORFISMI CROMOSOMICI E LEUCEMIE.
No full textEfficacy and safety of influenza vaccination in children with asthma
No full textThe mean global prevalence of asthma among children is approximately 12%, making it the most common chronic disease in children. Influenza infection has been associated with complications such as exacerbations of wheezing and asthma, increased airway hyper-reactivity and hospitalization. Although influenza vaccination is recommended for asthmatic patients by all health authorities, vaccination coverage remains significantly lower than expected and is lowest of all in children. Compliance is affected by the uncertainty of parents and physicians concerning the clinical risk of influenza in asthmatic subjects, the benefits of influenza vaccination in preventing asthma exacerbations and the safety of immunization. The aim of this review is to analyze the rationale for using influenza vaccine, discuss the relationship between influenza and the severity of asthmatic episodes and document the efficacy and safety of influenza vaccination in the pediatric asthmatic population
Neurofibromatosis-1: a maximum likelihood estimation of mutation rate.
No full textMethods of classical segregation analysis were applied to a sample of 129 sibships with one or more individuals affected by neurofibromatosis-1 (NF-1). The sample consists only of subjects with NF-1; all the probands had been referred for genetic counselling because of café-au-lait spots, and a diagnostic protocol was invariably applied. No deviation from the segregation ratio expected for a fully penetrant Mendelian dominant gene was observed. A maximum likelihood estimate of the proportion of sporadic cases was obtained, and the mutation rate was estimated to be 6.5 x 10(-5) gametes per generation (95% CI 5.0-8.1)
An Italian family with autosomal dominant polycystic kidney disease unlinked to either the PKD1 or PKD2 gene
No full textWe describe a family with autosomal dominant polycystic kidney disease in which molecular typing with closely linked markers for the PKD1 and PKD2 genes indicated absence of linkage. Thus, a third still unknown locus appears likely to be involved in disease development. This is the fourth 'PKD3- linked' family described to date and the first from Italy
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