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Systematic bias in malaria parasite relatedness estimation.
G3 (Bethesda)
January 2025
Infectious Disease Epidemiology and Analytics G5 Unit, Institut Pasteur, Université Paris Cité, Paris 75015, France.
Genetic studies of Plasmodium parasites increasingly feature relatedness estimates. However, various aspects of malaria parasite relatedness estimation are not fully understood. For example, relatedness estimates based on whole-genome-sequence (WGS) data often exceed those based on sparser data types.
View Article and Find Full Text PDFInferring demographic and selective histories from population genomic data using a two-step approach in species with coding-sparse genomes: an application to human data.
G3 (Bethesda)
January 2025
School of Life Sciences, Center for Evolution & Medicine, Arizona State University, Tempe, AZ 85281, USA.
The demographic history of a population, and the distribution of fitness effects (DFE) of newly arising mutations in functional genomic regions, are fundamental factors dictating both genetic variation and evolutionary trajectories. Although both demographic and DFE inference has been performed extensively in humans, these approaches have generally either been limited to simple demographic models involving a single population, or, where a complex population history has been inferred, without accounting for the potentially confounding effects of selection at linked sites. Taking advantage of the coding-sparse nature of the genome, we propose a 2-step approach in which coalescent simulations are first used to infer a complex multi-population demographic model, utilizing large non-functional regions that are likely free from the effects of background selection.
View Article and Find Full Text PDFStudying gender in the experiences of patients with heart failure: A scoping review of qualitative studies and methodological recommendations.
Womens Health (Lond)
January 2025
Department of Ethics Law and Humanities, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
Background: Considering how gendered experiences play a role in the lives of patients with heart failure (HF) is critical in order to understand their experiences, optimise clinical care and reduce health inequalities.
Objectives: The aim of our study was to review how gender is being studied in qualitative research in HF, specifically to (1) analyse how gender is conceptualised and applied in qualitative HF research; and (2) identify methodological opportunities to better understand the gendered experiences of patients with HF.
Eligibility Criteria: We conducted a systematic search of literature, including qualitive or mixed-methods articles focussing on patients' perspectives in HF and using gender as a primary analytical factor, excluding articles published before 2000.
The patient and caregiver experience of CAR T-cell therapy: A qualitative analysis.
J Psychosoc Oncol
January 2025
University of Minnesota Medical School, Minneapolis, MN, USA.
Background/purpose: Immunotherapies, such as CAR-T, have revolutionized cancer treatment for some cancers. However, these treatments often require active participation of a family member or friend to act as a caregiver at home for several weeks after infusion. Given the novelty of CAR-T, there is a need to better understand the experience of patients receiving these treatments and their caregivers.
View Article and Find Full Text PDFPathophysiology and diagnostic criteria of PCOS.
Minerva Obstet Gynecol
January 2025
Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Introduction: Polycystic ovary syndrome (PCOS) is a heterogeneous endocrine-metabolic syndrome mainly characterized by ovarian dysfunction, which is only one manifestation of a more complex syndrome with a significant systemic impact.
Evidence Acquisition: We review scientific literature on the pathophysiology and diagnosis of PCOS evaluating the most relevant data from original articles, reviews and meta-analyses published until June 2024.
Evidence Synthesis: From a pathophysiological point of view, the concurrence of both metabolic aspects, such as insulin resistance and obesity, and hormonal alterations, such as hyperandrogenemia, might produce the most relevant clinical signs and/symptoms of this syndrome, for instance menstrual irregularities, hair loss, acne and hirsutism.
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