Objective: To systematically review studies that have analyzed communication within medical consultations involving genetic specialists and report on their findings and design.
Methods: Drawing from PRISMA and appropriate guidelines for reviewing qualitative research, a systematic search of seven databases was conducted, followed by selection of studies for inclusion based on a set of criteria. Three authors conducted data extraction and narrative synthesis.
Results: Twenty-two studies were identified and were heterogeneous in setting, design, and methods, with many including limited descriptions of health professionals involved. Despite this variability, studies generally pursued the following three main objectives: searching for structural patterns within consultations, investigating communication and genetic counseling concepts, and linking process with input- and outcome-measures. Structural patterns identified included clinician dialog dominating consultations, and talk being mostly biomedical. Counseling and communication concepts investigated were: risk communication, the negotiation of power and knowledge, and adherence to genetic counseling ideals. Attempts to link consultation data to input- or outcome-measures were often unsuccessful.
Conclusion: More interdisciplinary research, grounded in appropriate theoretical frameworks, is needed to explore inherent complexities in this setting.
Practice Implications: Findings from this review can be used to guide the design of future research into the process of genetic consultations.
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http://dx.doi.org/10.1016/j.pec.2014.09.017 | DOI Listing |
Nat Commun
December 2024
Architecture and Dynamics of Biological Macromolecules, Institut Pasteur, Université Paris Cité, CNRS UMR 3528, Paris, France.
Replication Protein A (RPA) plays a pivotal role in DNA replication by coating and protecting exposed single-stranded DNA, and acting as a molecular hub that recruits additional replication factors. We demonstrate that archaeal RPA hosts a winged-helix domain (WH) that interacts with two key actors of the replisome: the DNA primase (PriSL) and the replicative DNA polymerase (PolD). Using an integrative structural biology approach, combining nuclear magnetic resonance, X-ray crystallography and cryo-electron microscopy, we unveil how RPA interacts with PriSL and PolD through two distinct surfaces of the WH domain: an evolutionarily conserved interface and a novel binding site.
View Article and Find Full Text PDFJ Biomol Struct Dyn
February 2025
Laboratory of Integrative Genomics, Department of Integrative Biology, School of Bio Sciences and Technology, Vellore Institute of Technology (VIT), Vellore, India.
The P53 protein, a cancer-associated transcriptional factor and tumor suppressor, houses a Zn ion in its DNA-binding domain (DBD), essential for sequence-specific DNA binding. However, common mutations at position 273, specifically from Arginine to Histidine and Cysteine, lead to a loss of function as a tumor suppressor, also called DNA contact mutations. The mutant (MT) P53 structure cannot stabilize DNA due to inadequate interaction.
View Article and Find Full Text PDFCureus
November 2024
Child Psychiatry, Adana City Training and Research Hospital, Adana, TUR.
Objective: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition that emerges in early childhood and is characterized by difficulties in social communication, repetitive behaviors, and restricted interests. The Ras homolog (Rho)/Rho-kinase signaling pathway plays a critical role in maintaining synaptic structure and function, as it regulates the actin cytoskeleton. This study aims to investigate the expression of the Ras homolog (Rho) family member A (), Rho-kinase 1 (), and Rho-kinase 2 () genes within this pathway in relation to ASD.
View Article and Find Full Text PDFFront Psychol
December 2024
Department of Sociology, Bangabandhu Sheikh Mujibur Rahman Science and Technology University, Gopalganj, Bangladesh.
Background And Objectives: Natural disasters are harmful occurrences caused by the Earth's geological and meteorological processes. Bangladesh is recognized as one of the country's most vulnerable to natural disasters. Therefore, the people of Bangladesh remain at high risk of natural disasters.
View Article and Find Full Text PDFFront Med (Lausanne)
December 2024
Social Determinants of Health Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Background: Alzheimer's disease (AD) is a chronic, progressive neurodegenerative disorder characterized by cognitive decline, memory loss, and impaired reasoning. It is the leading cause of dementia in older adults, marked by the pathological accumulation of amyloid-beta plaques and neurofibrillary tangles. These pathological changes lead to widespread neuronal damage, significantly impacting daily functioning and quality of life.
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