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Background: Patient and family-centred care (PFCC) is a healthcare model has been acknowledged as the central pillar in the paediatric health care that recognizes the family's role and experience in the health care delivery., Aims: This study investigated and compared the perception of PFCC from the perspective of staff and parents of hospitalized children and adolescents., Methods: A quantitative and comparative cross-sectional survey was used in a convenience sample of 105 staff and 116 parents, who completed the Brazilian versions of the Perceptions of Family Centred Care-Parent and Staff questionnaires, with additional questions on their characteristics. Descriptive and analytical statistics were used, as well as the Kruskal-Wallis and Mann-Whitney tests and Spearman's correlation coefficient., Results: Both parents and staff responses were positive and parents had significantly higher scores for 19 of the 20 items (p < 0.001). The item related to parental participation did not show any significant difference between the groups., Conclusion: The positive perception of PFCC for both groups is consistent with recommendations for expanded care that includes patient and family in healthcare settings. Parents' perception was more positive than staff perceptions of their delivery of family-centred care in hospital. The lowest score for the parent support subscale in both groups requires investigation., (© 2023 John Wiley & Sons Ltd.)

γ-Aminobutyric acid (GABA) acting through heteropentameric GABA A receptors plays a pivotal role in the sleep-promoting circuitry. Whereas the role of the different GABA A receptor α-subunits in sleep regulation and in mediating the effect of benzodiazepines for treatment of insomnia is well-described, the β-subunits are less studied. Here we report the first study characterizing sleep in mice lacking the GABA A receptor β 1 -subunit (β 1 -/- mice). We show that β 1 -/- mice have a distinct and abnormal sleep phenotype characterized by increased delta power in non-rapid eye movement (NREM) sleep and decreased theta activity in rapid eye movement (REM) sleep compared to β 1 +/+ mice, without any change in the overall sleep-wake architecture. From GABA A receptor-specific autoradiography, it is further demonstrated that functional β 1 -subunit-containing GABA A receptors display the highest binding levels in the hippocampus and frontal cortex. In conclusion, this study suggests that the GABA A receptor β 1 -subunit does not play an important role in sleep initiation or maintenance but instead regulates the power spectrum and especially the expression of theta rhythm. This provides new knowledge on the complex role of GABA A receptor subunits in sleep regulation. In addition, β 1 -/- mice could provide a useful mouse model for future studies of the physiological role of delta and theta rhythms during sleep., (© 2021 Federation of European Neuroscience Societies and John Wiley & Sons Ltd.)

We report on a pair of monozygotic twins belonging to a family segregating Huntington disease (HD). In routine DNA analysis of blood cells, they displayed three alleles of the CAG repeat sequence in the HD gene. Two different cell lines, carrying the normal allele together with either an expanded allele with 47 CAGs or an intermediate allele with 37 CAGs, were detected in blood and buccal epithelium from both twins. To our knowledge, this is the first case described of HD gene CAG repeat length mosaicism in blood cells. Haplotype analysis established that the 37 CAG allele most likely arose by contraction of the maternal 47 CAG allele. The contraction must have taken place postzygotically, possibly at a very early stage of development, and probably before separation of the twins. One of the twins has presented symptoms of HD for 4 years; his skin fibroblasts and hair roots carried only the cell line with the 47 CAG repeat allele. The other twin, who is without symptoms at present, displayed mosaicism in skin fibroblasts and hair roots. If the proportion of the two cell lines in the brain of each twin resembles that of their hair roots (another tissue originating from the ectoderm), the mosaicism in the unaffected twin would mean that only a part of his brain cells carried the expanded allele, which could explain why he, in contrast to his brother, has no symptoms at this time.