Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1001/jama.2022.12437 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Family Genetic Risk Communication and Reverse Cascade Testing in the BabySeq Project.
Genet Med
December 2024
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA; Harvard Medical School, Boston, MA.
Purpose: Genomic sequencing of newborns (NBSeq) can initiate disease surveillance and therapy for children, and may identify at-risk relatives through reverse cascade testing. We explored genetic risk communication and reverse cascade testing among families of newborns who underwent exome sequencing and had a risk for autosomal dominant disease identified.
Methods: We conducted semi-structured interviews with parents of newborns enrolled in the BabySeq Project who had a pathogenic or likely-pathogenic (P/LP) variant associated with an autosomal dominant (AD) childhood- and/or adult-onset disease returned.
Factors Influencing the Demoralisation Syndrome of Post-Operative Patients With Breast Cancer: A Cross-Sectional Study.
Nurs Open
January 2025
Department of Nursing, Zhongshan Hospital Xiamen University, Xiamen, China.
Aim: We explored demoralisation syndrome among post-operative patients with breast cancer and its relationship with patients' body image and marital intimacy.
Design: A cross-sectional study.
Methods: In this cross-sectional study, 237 patients with breast cancer who were hospitalised in the breast surgery department of Grade A tertiary hospital in Xiamen, China from June 2022 to December 2023 and met the standards of adaxation were selected by the convenience sampling method.
Depression and psychological help-seeking attitude among Turkish mothers of children with autism: problem-focused coping as a mediator.
Psychol Health Med
December 2024
Play Therapy and Counseling, Sen Değilim Special Education and Rehabilitation Center, Istanbul, Turkiye.
Studies demonstrate that mothers of children with autism spectrum disorder (ASD) experience depression and are less likely to seek professional psychological help. This study examined the roles of coping strategies in predicting psychological help-seeking attitudes among mothers of children with ASD. A total of 250 Turkish mothers of children with autism were recruited using purposive sampling during their training at the autism center in Istanbul.
View Article and Find Full Text PDFProperty Tuning in N-Methylpyrrole Azo-Photoswitches via Modification of the Peripheral Substituents.
Chemistry
December 2024
University of Pardubice: Univerzita Pardubice, Institute of Organic Chemistry and Technology, CZECHIA.
Differently substituted pyrrole-azo‑benzene molecular photoswitches were prepared in a straightforward synthetic way. Their fundamental properties were investigated by XRD analysis, differential scanning calorimetry, thermogravimetric analysis, cyclic voltammetry, UV‑Vis absorption spectroscopy, Hyper-Rayleigh Scattering, and NMR spectroscopy; the experimental results were further corroborated by DFT calculations. Thermal robustness, the HOMO/LUMO levels, and the absorption properties were altered mostly by substituting the N‑methylpyrrole moiety and further fine-tuned by modifying the benzene substituents.
View Article and Find Full Text PDFPredicting the Health-Promoting Lifestyle Profile of Pregnant Women Based on Their Health Literacy Levels: A Cross-Sectional Study.
Nurs Open
January 2025
Faculty of Nursing and Midwifery, Qom University of Medical Sciences, Qom, Iran.
Aim: Health literacy is considered as key factor to empower women to participate in self-care and child-care activities. The purpose of the present study is to determine the relationship between health-promoting behaviours and health literacy among pregnant women.
Design: A cross-sectional study.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!