Objective: The premutation of the FMR1 gene (defined as between 55 and 200 CGG repeats) is estimated to affect 1 in 149 females and 1 in 643 males, and some people who carry the FMR1 premutation display signs of impairment.
Method: This study focuses on 82 premutation carrier mothers (M age = 51.4 years; SD = 7.7) of adolescent and adult children with fragile X syndrome (FXS). A Gene × Environment interaction approach examined the ways in which the experience of negative life events interacts with genetic vulnerability to predict depressive symptoms, anxiety, and daily cortisol levels.
Results: The associations of life events with all 3 dependent measures were associated with CGG repeat length but in a curvilinear manner. Mothers with midsize CGG repeats who experienced above-average numbers of negative life events in the previous year had more depressive symptoms and anxiety and had a blunted cortisol awakening response, as compared with those with higher or lower repeat lengths. However, mothers with midsize CGG repeats who experienced below-average numbers of negative life events in the previous year had the lowest levels of depressive symptoms and anxiety, and they exhibited the typical cortisol response to awakening, meeting the criteria for differential susceptibility.
Conclusions: This research extends our understanding of the phenotypic effects of the expansion of the FMR1 gene, and it adds to the growing literature on the curvilinear relationship between CGG repeat length and mental and physical health.
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http://dx.doi.org/10.1037/a0026528 | DOI Listing |
Front Med (Lausanne)
December 2024
Department of Oncology, Ganzhou People's Hospital, Ganzhou, China.
Background: Immune checkpoint inhibitors (ICIs) have been widely applicated for the treatment of patients with advanced esophageal cancer. Skin-related adverse reactions are frequent with ICIs, with toxic epidermal necrolysis (TEN) being a severe and potentially life-threatening cutaneous reaction.
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EClinicalMedicine
December 2024
Nottingham Digestive Diseases Centre (NDDC), Translational Medical Sciences, School of Medicine, University of Nottingham, NG7 2UH, UK.
Background: Despite the availability of various pharmacological and behavioural interventions, alcohol-related mortality is rising. This systematic review aimed to critically evaluate the existing literature on the association between glucagon-like peptide-1 receptor agonists use (GLP-1 RAs) and alcohol consumption.
Methods: Electronic searches were conducted on Ovid Medline, EMBASE, PsycINFO, clintrials.
Front Public Health
December 2024
Occupational Therapy Department, College of Allied Health Sciences, Kuwait University, Kuwait City, Kuwait.
Introduction: Attending university marks a pivotal yet stressful phase in students' lives, characterized by significant adjustments to a new environment that can impact mental, emotional, and physical well-being. The journey through the acceptance and admissions process into university introduces substantial challenges, academic performance and changes to daily life. Such challenges and corresponding conditions can be intensified for students entering university with prior traumatic experiences.
View Article and Find Full Text PDFEClinicalMedicine
August 2024
Division of Cancer Prevention and Population Sciences, Department of Health Services Research, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Background: Lung cancer screening recommendations employ annual frequency for eligible individuals, despite evidence that it may not be universally optimal. The impact of imposing a structure on the screening frequency remains unknown. The ENGAGE framework, a validated framework that offers fully dynamic, analytically optimal, personalised lung cancer screening recommendations, could be used to assess the impact of screening structure on the effectiveness and efficiency of lung cancer screening.
View Article and Find Full Text PDFHuman endocrine cell differentiation and islet morphogenesis play critical roles in determining islet cell mass and function, but the events and timeline of these processes are incompletely defined. To better understand early human islet cell development and maturation, we collected 115 pediatric pancreata and mapped morphological and spatiotemporal changes from birth through the first ten years of life. Using quantitative analyses and a combination of complementary tissue imaging approaches, including confocal microscopy and whole-slide imaging, we developed an integrated model for endocrine cell formation and islet architecture, including endocrine cell type heterogeneity and abundance, endocrine cell proliferation, and islet vascularization and innervation.
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