98 research outputs found

    Allergies, allergic comorbidities and the home environment in pediatric asthma in Southern Florida

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    Background: Environmental exposure is critical in sensitization to environmental allergens and pediatric asthma morbidity, especially in tropical climates where children are perennially exposed to bioaerosols, such as pollen and mold spores, and endotoxins. Objective: This cross-sectional study examines the association of allergies, associated allergic comorbidities, and the home environment separately and synergistically in pediatric asthma, including in asthma prevalence, severity of asthma, and undiagnosed asthma, in South Florida. Methods: An online survey was administered to the parents of children attending two of the University of Miami pediatric clinics from June to October 2016. Descriptive, factor, and multivariate regression analyses were used to analyze the data. Results: Of 163 children, 22% (36) children had physician-diagnosed asthma; 10% and 32% had allergic rhinitis diagnosis and rhinitis symptoms, respectively, in the past. The allergy diagnosis age was 2.3 years higher than the asthma diagnosis age (p \u3c 0.01). Children with ≥ 2 allergies were 12.8 times more likely to have physician-diagnosed asthma than those without allergies (p \u3c 0.01). Children with allergies and allergic rhinitis were 4.3 (p \u3c 0.05) times more likely to have asthma, and those with asthma were 15 (p \u3c 0.05) times more likely to have an asthma attack than those without known allergies and allergic rhinitis. Conclusion: Allergies and associated comorbidities are risk factors of asthma, asthma persistence, and multiple allergies exacerbate their effects. Early screening for allergies and treatment are warranted to manage asthma. Since the home environment plays an important role in sensitization to allergens, further research is needed to assess home-environmentmediated allergic conditions in the onset and persistence of asthma

    Targeted treatments for immune dysregulation in inborn errors of immunity

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    Primary immune regulatory disorders (PIRDs) constitute a subset of inborn errors of immunity and are characterized by lymphoproliferation, autoimmunity, malignancy, and infection. Unlike classical primary immune deficiencies, initial symptoms of PIRDs can manifest as autoimmunity such as cytopenias or enteropathy, which can often prove resistant to conventional treatments and occur years prior to the onset of infectious complications. Raising awareness about PIRDs among specialists and adopting a multidisciplinary approach is crucial for early diagnosis, intervention, and potential prevention of severe organ damage. Significant progress has been made in identifying several PIRDs, which has contributed to a more comprehensive comprehension of their underlying immunological mechanisms. This knowledge has paved the way for targeted therapies focusing on specific molecules, which tend to offer superior disease control compared to traditional immunosuppressants. This review, informed by the latest literature, explores prevalent PIRDs, detailing their clinical manifestations and recent advancements in treatment modalities

    Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis

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    FOXN1 is the master regulatory gene of thymic epithelium development. FOXN1 deficiency leads to thymic aplasia, alopecia, and nail dystrophy, accounting for the nude/severe combined immunodeficiency (nu/SCID) phenotype in humans and mice. We identified several newborns with low levels of T cell receptor excision circles (TRECs) and T cell lymphopenia at birth, who carried heterozygous loss-of-function FOXN1 variants. Longitudinal analysis showed persistent T cell lymphopenia during infancy, often associated with nail dystrophy. Adult individuals with heterozygous FOXN1 variants had in most cases normal CD4+ but lower than normal CD8+ cell counts. We hypothesized a FOXN1 gene dosage effect on the function of thymic epithelial cells (TECs) and thymopoiesis and postulated that these effects would be more prominent early in life. To test this hypothesis, we analyzed TEC subset frequency and phenotype, early thymic progenitor (ETP) cell count, and expression of FOXN1 target genes (Ccl25, Cxcl12, Dll4, Scf, Psmb11, Prss16, and Cd83) in Foxn1nu/+ (nu/+) mice and age-matched wild-type (+/+) littermate controls. Both the frequency and the absolute count of ETP were significantly reduced in nu/+ mice up to 3 weeks of age. Analysis of the TEC compartment showed reduced expression of FOXN1 target genes and delayed maturation of the medullary TEC compartment in nu/+ mice. These observations establish a FOXN1 gene dosage effect on thymic function and identify FOXN1 haploinsufficiency as an important genetic determinant of T cell lymphopenia at birth

    Mudança científica: modelos filosóficos e pesquisa histórica

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    Voters, Non-Voters, and the Implications of Election Timing for Public Policy

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    A Patient-Based Needs Assessment for Living Well with Parkinson Disease: Implementation via Nominal Group Technique

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    Background. Parkinson’s disease (PD) is a neurodegenerative condition with complex subtleties, making it challenging for physicians to fully inform their patients. Given that approximately 50% of Americans access the Internet for health information, the development of a multimedia, web-based application emphasizing targeted needs of people with Parkinson’s disease (PwP) has the potential to change patient’s lives. Objectives. To determine what information PwP perceive could enhance their quality of life. Methods. Group sessions utilizing nominal group technique (NGT) were conducted. Participants were asked “what information do you want to know about that would help you live well with PD?” Silent generation of ideas preceded discussion followed by anonymous ranking of items. A “summary score” (sum of rank × frequency) was calculated. Results. 36 individual items were collapsed into 9 categories. Coping with emotions, changing relationships, and social implications of PD were ranked as most important. Financial supports and skills for self-advocacy were also highly ranked. Conclusions. Qualitative research methodology was utilized to determine the unmet needs of PwP. Results of this survey will inform the development of a patient-oriented, online resource, the goal will be to provide information and strategies to improve symptom management, reduce disability and address all relevant concerns important to those affected by PD.Peer Reviewe

    Peer review: its time has come

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