37 research outputs found

    Evaluation of a large set of patients with Autoimmune Polyglandular Syndrome from a single reference centre in context of different classifications

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    Purpose: To characterize patients with APS and to propose a new approach for their follow-up. Query ID="Q1" Text="Please check the given names and familynames." Methods: Monocentric observational retrospective study enrolling patients referred to the Outpatients clinic of the Units of Endocrinology, Diabetology, Gastroenterology, Rheumatology and Clinical Immunology of our Hospital for Autoimmune diseases. Results: Among 9852 patients, 1174 (11.9%) [869 (73.9%) female] were diagnosed with APS. In 254 subjects, the diagnosis was made at first clinical evaluation (Group 1), all the other patients were diagnosed with a mean latency of 11.3 ± 10.6 years (Group 2). Group 1 and 2 were comparable for age at diagnosis (35.7 ± 16.3 vs. 40.4 ± 16.6 yrs, p =.698), but different in male/female ratio (81/173 vs 226/696, p =.019). In Group 2, 50% of patients developed the syndrome within 8 years of follow-up. A significant difference was found after subdividing the first clinical manifestation into the different outpatient clinic to which they referred (8.7 ± 8.0 vs. 13.4 ± 11.6 vs. 19.8 ± 8.7 vs. 7.4 ± 8.1 for endocrine, diabetic, rheumatologic, and gastroenterological diseases, respectively, p <.001). Conclusions: We described a large series of patients affected by APS according to splitters and lumpers. We propose a flowchart tailored for each specialist outpatient clinic taking care of the patients. Finally, we recommend regular reproductive system assessment due to the non-negligible risk of developing premature ovarian failure

    Structural Biology by NMR: Structure, Dynamics, and Interactions

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    The function of bio-macromolecules is determined by both their 3D structure and conformational dynamics. These molecules are inherently flexible systems displaying a broad range of dynamics on time-scales from picoseconds to seconds. Nuclear Magnetic Resonance (NMR) spectroscopy has emerged as the method of choice for studying both protein structure and dynamics in solution. Typically, NMR experiments are sensitive both to structural features and to dynamics, and hence the measured data contain information on both. Despite major progress in both experimental approaches and computational methods, obtaining a consistent view of structure and dynamics from experimental NMR data remains a challenge. Molecular dynamics simulations have emerged as an indispensable tool in the analysis of NMR data

    Experiences of parents with caring for their child after a cancer diagnosis

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    Children and adolescents with cancer are increasingly treated and cared for at home; hospital stays are reduced to a minimum. Taking care of a sick child at home has an impact on the entire family: the sick child, the siblings, and the parents. This qualitative study examines the experiences of parents taking their child home for the first time after the diagnosis. Parents of 10 children newly diagnosed with cancer were interviewed twice around the time of the first discharge; data were analyzed using content analysis methodology. Findings illustrated parents' preparation of and experiences around their child's first discharge, the huge amount of new and changed tasks parents have to fulfill at home when caring for their child with cancer, and consequences for the parents. By providing individualized information and instruction, by having parents anticipate potential problems and solutions, and by describing available community support and integrating district nurses as well as other parents with the same experiences more frequently, health care professionals in the hospital can optimize discharge planning for these parents
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