Towards sustainability in European agricultural firms

Agricultural activity plays an important role in all 28 Member States (MS) of the European Union (EU) in terms of: -Economics, -Environmental, -Social, and -Political activity. The sector also provides: -agricultural goods and services to support food security; -exports and imports at European and World level; -creation of direct and indirect jobs; and -the maintenance of population living in rural and regional areas.N/

Genetic investigations on 8 patients affected by ring 20 chromosome syndrome

<p>Abstract</p> <p>Background</p> <p>Mosaic Chromosome 20 ring [r(20)] is a chromosomal disorder associated with a rare syndrome characterized by a typical seizure phenotype, a particular electroclinical pattern, cognitive impairment, behavioural problems and absence of a consistent pattern of dysmorphology. The pathogenic mechanism underlying seizures disorders in r(20) syndrome is still unknown. We performed a detailed clinical and genetic study on 8 patients with r(20) chromosome, aimed at detecting the genetic mechanism underlying r(20) syndrome.</p> <p>Methods</p> <p>We submitted 8 subjects with a previous diagnosis of ring 20 chromosome mosaicism to a clinical re-evaluation, followed by cytogenetic, FISH, array-CGH and molecular analyses. The genetic study was also extended to their available parents.</p> <p>Results</p> <p>FISH and array-CGH experiments indicate that cryptic deletions on chromosome 20 are not the cause of the r(20) chromosome associated disease. Moreover, no evidence of chromosome 20 uniparental disomy was found. Analysis of FISH signals given by variant in size alphoid tandem repeats probes on the normal chromosome 20 and the r(20) chromosome in the mosaic carriers suggests that the r(20) chromosome is the same chromosome not circularized in the "normal" cell line.</p> <p>Conclusions</p> <p>Higher percentages of r(20) chromosome cells were observed to be related with precocious age at seizure onset and with resistance to antiepileptic drug treatment. Behavioural problems also seem to be associated with higher percentages of r(20) chromosome cells. Our results suggest that an epigenetic mechanism perturbing the expression of genes close to the telomeric regions, rather than deletion of genes located at the distal 20p and/or 20q regions, may underlie the manifestation of r(20) syndrome.</p

Sleep disorders and neuropsychiatric disorders in a pediatric sample of tuberous sclerosis complex: a questionnaire-based study

Objective and background: Sleep disorders (SD) are very common in childhood, especially in certain genetic syndromes. Tuberous Sclerosis Complex (TSC) is a genetic syndromesassociated with a high rate of SD, although these are still under-recognized. The aim of this study was to assess the prevalence of SD in TSC, and to evaluate the relationship between sleep, epilepsy and TSC-associated neuropsychiatric disorders (TAND). Methods: We administered the Sleep Disturbance Scale for Children (SDSC) and the Epworth Sleepiness Scale for Children and Adolescents (ESS-CHAD) to parents of 177 children with TSC referring to different Italian centers. We also collected information on epilepsy and TAND. Results: SDSC score was positive in 59.3% of patients, being positive in 30.4% of patients without and in 63.6% of those with epilepsy (p&nbsp;=&nbsp;0.005). However, in a multivariate logistic model considering antiseizure medications and nocturnal seizures, epilepsy ceased to be a significant risk factor for positive SDSC (OR&nbsp;=&nbsp;2.4; p&nbsp;=&nbsp;0.17). As for TAND, SDSC was positive in 67.9% of patients with and in 32.5% of those without TAND (p&nbsp;&lt;&nbsp;0.001). After adding in a multivariate logistic model active epilepsy, age, and pharmacotherapies, TAND continued to be a significant risk factor for positive SDSC (p&nbsp;=&nbsp;0.01, OR&nbsp;=&nbsp;1.11). Conclusions: Our results revealed a high prevalence of SD in children with TSC. Epilepsy didn't increase the risk for SD, while a very strong association was found with TAND. An early detection of SD is of utmost importance in order to plan an individualized treatment, that in some cases might also ameliorate behavior and attention

EEG at onset and MRI predict long-term clinical outcome in Aicardi syndrome

Descriptions of electroencephalographic (EEG) patterns in Aicardi syndrome (AIC) have to date referred to small cohorts of up to six cases and indicated severe derangement of electrical activity in all cases. The present study was conducted to describe the long-term EEG evolution in a larger AIC cohort, followed for up to 23&nbsp;years, and identify possible early predictors of the clinical and EEG outcomes

Multivariate Analysis and ODDS RATIO for LAM risk in overall population.

<p>Multivariate Analysis and ODDS RATIO for LAM risk in overall population.</p

Age-dependent risk of LAM.

<p><b>(A)</b> on age quartiles in the overall population (<i>p = 0</i>.<i>004</i>) <b>(B)</b> predicted probability of LAM in relationship to age and 95% CI in patients with and without altered pulmonary function tests. Points along the central logistic curve are individual predicted probabilities. Black points refer to patients with normal pulmonary function tests (PFT), white points refer to patients with altered PFT. The corresponding 95% CI for each point appears on the outer logistic curves. The dotted lines refer to 95% CI of predicted probability for patients with altered PFT while the continuous line refers to IC in patients with normal PFT.</p

Demographic and clinical characteristics of enrolled patients according with LAM.

<p>Demographic and clinical characteristics of enrolled patients according with LAM.</p