55 research outputs found

    Airway stenting in a child with spondyloepiphyseal dysplasia congenita: 13-Year survival.

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    We describe the case of a boy with spondyloepiphyseal dysplasia congenita. At birth, he experienced severe respiratory distress necessitating tracheotomy. Endoscopy done because mechanical ventilation failed to resolve desaturations disclosed severe tracheo-bronchomalacia. A Polyflex silicone stent was placed in the trachea (replaced by Y-Dumon stent) and 2 Palmaz metallic stents in the mainstem bronchi (overlapped with 2 Jomed stents 5 years later). Airway stenting guaranteed a suitable respiratory status and allowed a child who was expected to die at birth, to reach 13.5 years old in good conditions

    Case report of an atypical early onset X-linked retinoschisis in monozygotic twins

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    BACKGROUND: X-linked Retinoschisis (XLRS) is one of the most common macular degenerations in young males, with a worldwide prevalence ranging from 1:5000 to 1:20000. Clinical diagnosis of XLRS can be challenging due to the highly variable phenotypic presentation and limited correlation has been identified between mutation type and disease severity or progression. CASE PRESENTATION: We report the atypical early onset of XLRS in 3-month-old monozygotic twins. Fundus examination was characterized by severe bullous retinal schisis with pre-retinal and intraretinal haemorrhages. Molecular genetic analysis of the RS1 was performed and the c.288G > A (p. Trp96Ter) mutation was detected in both patients. CONCLUSIONS: Early onset XLRS is associated with a more progressive form of the disease, characterized by large bullous peripheral schisis involving the posterior pole, vascular abnormalities and haemorrhages. The availability of specific technology permitted detailed imaging of the clinical picture of unusual cases of XLRS. The possible relevance of modifying genes should be taken into consideration for the future development of XLRS gene therapy

    In vitro effects of tea tree oil (Melaleuca alternifolia essential oil) and its principal component terpinen-4-ol on swine spermatozoa

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    The growing interest towards essential oils stems from their biological capabilities that include antibacterial and antioxidant effects. Such properties may be extremely useful in the reproductive field; nonetheless essential oils show toxic effects that can lead to cell disruption. The present study aimed to evaluate and compare the effects of tea tree oil (TTO) and its principal component terpinen-4-ol (TER) on the morpho-functional parameters of swine spermatozoa. Experimental samples were prepared by suspending 15 7 10 7 spermatozoa in 5 mL of medium with different concentrations of the above-mentioned compounds: from 0.2 to 2 mg/mL at an interval of 0.2 for TTO, while TER concentrations were adjusted according to its presence in TTO (41.5%). After 3 h incubation at 16 \u25e6 C, samples were analyzed for pH, viability, acrosome status, and objective motility. The results highlighted a concentration-dependent effect of TTO with total motility as the most sensitive parameter. TER was better tolerated, and the most sensitive parameters were related to membrane integrity, suggesting a different pattern of interaction. The study confirms the importance of evaluating the effects of natural compounds on spermatozoa before exploiting their beneficial effects. Spermatozoa seem to be good candidates for preliminary toxicological screenings in the light of their peculiar properties

    D13.2 Techniques and performance analysis on energy- and bandwidth-efficient communications and networking

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    Deliverable D13.2 del projecte europeu NEWCOM#The report presents the status of the research work of the various Joint Research Activities (JRA) in WP1.3 and the results that were developed up to the second year of the project. For each activity there is a description, an illustration of the adherence to and relevance with the identified fundamental open issues, a short presentation of the main results, and a roadmap for the future joint research. In the Annex, for each JRA, the main technical details on specific scientific activities are described in detail.Peer ReviewedPostprint (published version

    D13.1 Fundamental issues on energy- and bandwidth-efficient communications and networking

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    Deliverable D13.1 del projecte europeu NEWCOM#The report presents the current status in the research area of energy- and bandwidth-efficient communications and networking and highlights the fundamental issues still open for further investigation. Furthermore, the report presents the Joint Research Activities (JRAs) which will be performed within WP1.3. For each activity there is the description, the identification of the adherence with the identified fundamental open issues, a presentation of the initial results, and a roadmap for the planned joint research work in each topic.Preprin

    Understanding Factors Associated With Psychomotor Subtypes of Delirium in Older Inpatients With Dementia

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    Measurement of the charge asymmetry in top-quark pair production in the lepton-plus-jets final state in pp collision data at s=8TeV\sqrt{s}=8\,\mathrm TeV{} with the ATLAS detector

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    ATLAS Run 1 searches for direct pair production of third-generation squarks at the Large Hadron Collider

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