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Transaction of parental cognition, stress and depressive symptoms, and infant regulatory challenges.
Infant Ment Health J
January 2025
Department of Psychology, Faculty of Health Sciences, UiT The Arctic University of Norway, Tromsø, Norway.
Parental cognitions, stress, depression, and infant regulatory challenges might reinforce each other in the early parent-infant relationship. A transactional model was used as a framework to investigate these relationships. Two hundred and twenty pregnant women and their partners were recruited during pregnancy and followed 7 months postnatally in the NorBaby study in Norway.
View Article and Find Full Text PDFAt the intersection of literature and psychoanalysis, this essay draws on Freud's discovery of the infantile sexual unconscious to explore moments in the late novels of Henry James, in which an adult protagonist both recognizes and disavows the visible evidence of a sexual relationship. The essay considers Hans Holbein's 1533 painting, The Ambassadors, as a possible source for Henry James' choice of title for his 1903 novel: the painting's visual play with point of view touches on the narrative disavowal of what is there to be seen. The essay explores some narrative dimensions of Freud's writing to highlight the dynamic disclosure of the infantile within the adult.
View Article and Find Full Text PDFMultiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.
Sci Immunol
January 2025
Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Human recombination-activating gene (RAG) deficiency can manifest with distinct clinical and immunological phenotypes. By applying a multiomics approach to a large group of -mutated patients, we aimed at characterizing the immunopathology associated with each phenotype. Although defective T and B cell development is common to all phenotypes, patients with hypomorphic variants can generate T and B cells with signatures of immune dysregulation and produce autoantibodies to a broad range of self-antigens, including type I interferons.
View Article and Find Full Text PDFNo single treatment modality exhibits clear superiority for infantile spasms syndrome: insights from a retrospective cohort study.
Acta Neurol Belg
December 2024
Department of Development and Regeneration, KU Leuven, Leuven, Belgium.
Background: Infantile spasms syndrome is a severe form of infantile epilepsy. It is commonly treated with hormonal therapies or vigabatrin, either alone or in combination. This study aimed to assess the efficacy of these treatment modalities and explore associations with aetiology, and pre-existing developmental delay.
View Article and Find Full Text PDFWidening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome's clinical and molecular spectrum through NALCN structural analysis.
Front Genet
December 2024
Bioinformatics Unit, Fondazione IRCCS Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Italy.
Introduction: Infantile hypotonia with psychomotor retardation and characteristic facies-1 (IHPRF1, MIM#615419) is a rare, birth onset, autosomal recessive disorder caused by homozygous or compound heterozygous truncating variants in gene (MIM#611549) resulting in a loss-of-function effect.
Methods: We enrolled a new IHPRF1 patients' cohort in the framework of an international multicentric collaboration study. Using specialized pathogenicity predictors and structural analyses, we assessed the mechanistic consequences of the deleterious variants retrieved on NALCN structure and function.
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