Childhood is a phase that requires much attention from the family and the health service, because family members, besides depending on relatives, are vulnerable to the environment. The objective of this study was to describe the experiences of relatives of children hospitalized in an emergency care service, discuss on how those experiences affect the everyday life of the family and report the aspects that interfere in the nursing care. This descriptive study was performed using a qualitative approach, and was developed in a private emergency hospital. Interviews were performed with ten family members to obtain the data. The data was submitted to thematic analysis, and three categories were elaborated: experiences of the family member, changes in the everyday life of the family, the faith of the family and their closeness as facilitating agents. In conclusion, the person accompanying the patient goes thorough adaptations, whilst experiencing hospitalization, with changes to the routine of the family. However, because of the conflicts experienced by the family member, nursing should see them as a subject of the extended care.
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http://dx.doi.org/10.1590/s0080-62342011000200024 | DOI Listing |
Hum Genomics
January 2025
Department of Endocrine and Metabolic Diseases, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.
Background: The molecular genetic diagnosis of congenital adrenal hyperplasia (CAH) is very challenging due to the high homology between the CYP21A2 gene and its pseudogene CYP21A1P.
Methodology: This study aims to assess the clinical efficacy of targeted long-read sequencing (T-LRS) by comparing it with a control method based on the combined assay (NGS, Multiplex ligation-dependent probe amplification and Sanger sequencing) and to introduce T-LRS as a first-tier diagnostic test for suspected CAH patients to improve the precise diagnosis of CAH.
Results: A large cohort of 562 participants including 322 probands and 240 family members was enrolled for the perspective (96 probands) and prospective study (226 probands).
BMC Psychol
January 2025
Faculty of Education, Northeast Normal University, Changchun, 130022, China.
Background: The positive association of parental phubbing with internalizing and externalizing problems among adolescents has gained academic traction. However, current researches on the negative impacts of parental phubbing have focused primarily on adolescents, with a noticeable lack of studies concerning preschool children, and there is also a deficiency in investigations from the perspective of the Risky Family Model. These gaps limit our understanding of how parental phubbing affects problem behaviors among preschool children.
View Article and Find Full Text PDFAlzheimers Res Ther
January 2025
Department of Neuroscience "Rita Levi Montalcini", University of Turin, Via Cherasco 15, Turin, 10126, Italy.
Background: Alzheimer's disease (AD) is a progressive neurodegenerative disorder with both genetic and environmental factors contributing to its pathogenesis. While early-onset AD has well-established genetic determinants, the genetic basis for late-onset AD remains less clear. This study investigates a large Italian family with late-onset autosomal dominant AD, identifying a novel rare missense variant in GRIN2C gene associated with the disease, and evaluates the functional impact of this variant.
View Article and Find Full Text PDFCell Commun Signal
January 2025
Department of Pharmacology, SUNY Upstate Medical University, Syracuse, NY, 13210, USA.
Background: Bok is a poorly characterized Bcl-2 protein family member with roles yet to be clearly defined. It is clear, however, that Bok binds strongly to inositol 1,4,5-trisphosphate (IP) receptors (IPRs), which govern the mobilization of Ca from the endoplasmic reticulum, a signaling pathway required for many cellular processes. Also known is that Bok has a highly conserved phosphorylation site for cAMP-dependent protein kinase at serine-8 (Ser-8).
View Article and Find Full Text PDFBMC Psychol
January 2025
Faculty of Social Sciences (Health), Tampere University, Tampere, Finland.
Children are expected to outlive and live longer than their parents. However, the traumatic death of a child challenges parents' understanding of life and death. If parents are unable to form their own perceptions of death after such a loss, it can hinder their ability to cope and adjust.
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