307 research outputs found

    CSF/serum matrix metallopeptidase-9 ratio discriminates neuro Behcet from multiple sclerosis

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    In neuro Behcet disease with multiple sclerosis-like features, diagnosis could be challenging. Here, we studied the cerebrospinal fluid and serum inflammatory profile of 11 neuro Behcet and 21 relapsing-remitting multiple sclerosis patients. Between the soluble factors analyzed (MMP9, TNF, IL6, CXCL13, CXCL10, CXCL8, IFN, IL10, IL17, IL23, and others) we found MMP9 increased in neuro Behcet serum compared to multiple sclerosis and decreased in cerebrospinal fluid. Furthermore, neuro Behcet analysis of circulating natural killer CD56(DIM) subset suggests their potential involvement in increased MMP9 production. We believe that these findings may have a translational utility in clinical practice

    Natural SINEUP RNAs in Autism Spectrum Disorders: RAB11B-AS1 Dysregulation in a Neuronal CHD8 Suppression Model Leads to RAB11B Protein Increase

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    CHD8 represents one of the highest confidence genetic risk factors implied in Autism Spectrum Disorders, with most mutations leading to CHD8 haploinsufficiency and the insurgence of specific phenotypes, such as macrocephaly, facial dysmorphisms, intellectual disability, and gastrointestinal complaints. While extensive studies have been conducted on the possible consequences of CHD8 suppression and protein coding RNAs dysregulation during neuronal development, the effects of transcriptional changes of long non-coding RNAs (lncRNAs) remain unclear. In this study, we focused on a peculiar class of natural antisense lncRNAs, SINEUPs, that enhance translation of a target mRNA through the activity of two RNA domains, an embedded transposable element sequence and an antisense region. By looking at dysregulated transcripts following CHD8 knock down (KD), we first identified RAB11B-AS1 as a potential SINEUP RNA for its domain configuration. Then we demonstrated that such lncRNA is able to increase endogenous RAB11B protein amounts without affecting its transcriptional levels. RAB11B has a pivotal role in vesicular trafficking, and mutations on this gene correlate with intellectual disability and microcephaly. Thus, our study discloses an additional layer of molecular regulation which is altered by CHD8 suppression. This represents the first experimental confirmation that naturally occurring SINEUP could be involved in ASD pathogenesis and underscores the importance of dysregulation of functional lncRNAs in neurodevelopment

    Self-care in pediatric patients with chronic conditions: A systematic review of theoretical models

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    Background: To improve outcomes in children and young adults (CYAs) with chronic conditions, it is important to promote self-care through education and support. Aims: (1) to retrieve the literature describing theories or conceptual models of self-care in CYAs with chronic conditions and (2) to develop a comprehensive framework. Methods: A systematic literature search was conducted on nine databases, according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. All peer-reviewed papers describing a theory or a conceptual model of self-care in CYAs (0-24 years) with chronic conditions were included. Results: Of 2674 records, 17 met the inclusion criteria. Six papers included a theory or a model of self-care, self-management, or a similar concept. Six papers developed or revised pre-existing models or theories, while five papers did not directly focus on a specific model or a theory. Patients were CYAs, mainly with type 1 diabetes mellitus and asthma. Some relevant findings about self-care in CYAs with neurocognitive impairment and in those living with cancer may have been missed. Conclusions: By aggregating the key elements of the 13 self-care conceptual models identified in the review, we developed a new overarching model emphasizing the shift of self-care agency from family to patients as main actors of their self-management process. The model describes influencing factors, self-care behaviors, and outcomes; the more patients engaged in self-care behaviors, the more the outcomes were favorable

    Generalizing Tanisaki's ideal via ideals of truncated symmetric functions

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    We define a family of ideals IhI_h in the polynomial ring Z[x1,...,xn]\mathbb{Z}[x_1,...,x_n] that are parametrized by Hessenberg functions hh (equivalently Dyck paths or ample partitions). The ideals IhI_h generalize algebraically a family of ideals called the Tanisaki ideal, which is used in a geometric construction of permutation representations called Springer theory. To define IhI_h, we use polynomials in a proper subset of the variables x1,...,xn{x_1,...,x_n} that are symmetric under the corresponding permutation subgroup. We call these polynomials {\em truncated symmetric functions} and show combinatorial identities relating different kinds of truncated symmetric polynomials. We then prove several key properties of IhI_h, including that if h>h′h>h' in the natural partial order on Dyck paths then Ih⊂Ih′I_{h} \subset I_{h'}, and explicitly construct a Gr\"{o}bner basis for IhI_h. We use a second family of ideals JhJ_h for which some of the claims are easier to see, and prove that Ih=JhI_h = J_h. The ideals JhJ_h arise in work of Ding, Develin-Martin-Reiner, and Gasharov-Reiner on a family of Schubert varieties called partition varieties. Using earlier work of the first author, the current manuscript proves that the ideals Ih=JhI_h = J_h generalize the Tanisaki ideals both algebraically and geometrically, from Springer varieties to a family of nilpotent Hessenberg varieties.Comment: v1 had 27 pages. v2 is 29 pages and adds Appendix B, where we include a recent proof by Federico Galetto of a conjecture given in the previous version. We also add some connections between our work and earlier results of Ding, Gasharov-Reiner, and Develin-Martin-Reiner. v3 corrects a typo in Valibouze's citation in the bibliography. To appear in Journal of Algebraic Combinatoric

    Self-care in children and young people with complex chronic conditions: a qualitative study using Emotional Text Mining

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    Objectives: To explore: (1) self-care behaviors in children and young people (range: 6 months–24 years) with complex chronic conditions, characterized by the diagnosis of a severe chronic condition, substantial family-identified needs, functional limitations associated with technology dependence, and intensive use of healthcare services; (2) the contribution to self-care of family members and other persons involved in the child's health and daily life context (e.g., health professionals and teachers), and (3) the principal factors that might have influenced the self-care process associated with developmental age. Methods: A qualitative descriptive study was conducted in an Italian academic tertiary pediatric hospital between September 2020 and May 2021. Overall, 25 focus groups and 7 online interviews were conducted via videoconferencing. Textual data were analyzed using Emotional Text Mining to identify three levels of communication: the factors, the main themes (clusters), and the sub-themes. Results: A total of 104 participants were enrolled, including 27 patients with complex chronic conditions (12 males, mean age = 11.1 ± 4.40), 33 parents, 6 siblings, 33 health professionals, and 5 teachers. Participants described the process of self-care through four main factors: “self-care”, “external settings”, “family”, and “management”. Five clusters (themes) were identified: (1) Self-care management (device; consulting); (2) Shift of agency (influencing factors; parents; school); (3) Self-care support (normal life and personal development; multidisciplinary support); (4) Daily self-care maintenance/monitoring; (5) Treatment adherence. Self-care management was mostly relevant for parents of children aged between 6 months and 3 years. Conclusion: The self-care process varies according to the needs related to the specific developmental age and the evolution of the clinical condition over time. The contribution of the family, health professionals, and social networks is fundamental for adequate self-care. To help families manage the unstable condition of their children at home, it is necessary to strengthen support networks implement home care, and ensure continuity of care

    Changes in maternal body composition and metabolism of dairy goats during pregnancy.

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    Abstract: The objective of this study was to evaluate the mobilization of nutrients in goats of different gestation types and pregnancy stages. Forty-four Saanen and Oberhasli goats were studied. The goats of each breed and gestation type (single or twin) were slaughtered at different gestational ages (80, 110, and 140 days of pregnancy), forming a completely randomized design in a 2 × 3 × 2 factorial arrangement (two breeds, three gestational ages, and two types of pregnancy). The slaughter procedure involved separating the empty body, mammary glands, uterus with membranes and fetal fluid, and fetus(es). For the females slaughtered at 140 days of pregnancy, blood was collected to analyze metabolites and hormones every 15 days during gestation. The dry matter (DM) intake was lower in goats with twin pregnancies. The relative daily retention rate of the nutrients in the body was positive at 100 days of pregnancy but became negative at 140 days (-0.18±0.25 g DM kg-1 of maternal body d-1) and did not differ with breed or number of fetuses. Fetal growth in twin pregnancies was 66% higher than in single pregnancies. The highest levels of ß-hydroxybutyrate and non-esterified fatty acids were observed beginning at 100 days of gestation. Serum total protein and albumin levels decreased after 125 days of gestation. Serum urea levels were reduced after 80 days of gestation. Plasma 17ß-estradiol levels increased with the advance of pregnancy, and IGF-1 was highest between 60 and 80 days of gestation. The maternal metabolism throughout pregnancy does not vary with the type of pregnancy, and pregnant goats need greater nutritional intake during the final third of the gestational period regardless of the breed or type of pregnancy
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