Background: Individuals harbouring pathogenic variants are at risk for aneurysms/dissections throughout the arterial tree. Based on prior reports of sex differences in thoracic aortic aneurysm/dissection, we investigated the sexual dimorphism for vascular events in variant-harbouring patients.
Methods: We analysed two large pedigrees comprising 84 individuals segregating pathogenic missense variants affecting the same p.Arg287 residue in . We excluded individuals<40 years without vascular involvement, as they were too young to be classified. Individuals were subcategorised according to sex, the presence or absence and localisation (aneurysm/dissection with or without involvement of the aortic root/ascending aorta) of vascular lesions. We complemented our familial patient cohort with 178 patients reported in the literature between 2011 and 2023.
Results: In our two pedigrees, 11/30 (37%) variant-harbouring females had no vascular involvement, whereas none of the variant-harboring males (n=23) had no vascular involvement (p=0.001). While the two groups did not differ by age, males were at higher risk of vascular complications (p=0.037), there was no age difference between sexes. Of the 19 females with vascular involvement, six (32%) had vascular involvment sparing the aortic root/ascending aorta, whereas of the 23 males with vascular invovlement, only one (4%) had vascular involvement sparing the aortic root/ascending aorta (p=0.034). In the literature, we identified 116 male and 62 female additional patients. In the combined cohort of 220 patients, we demonstrated an over-representation of males (p<0.001) and non-penetrance in females for vascular pathology involving the aortic root/ascending aorta (p=0.028).
Conclusions: Non-penetrance is more common in women, and normal echocardiography in at-risk females is not as reassuring for risk of vasculopathy in other locations. The higher non-penetrance in women creates an ascertainment bias and results in an over-representation of male patients in the literature.
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http://dx.doi.org/10.1136/jmg-2024-110219 | DOI Listing |
NPJ Digit Med
January 2025
Department of Biomedical Engineering, Duke University, Durham, NC, USA.
Large-scale and detailed analyses of activity in the United States (US) remain limited. In this work, we leveraged the comprehensive wearable, demographic, and survey data from the All of Us Research Program, the largest and most diverse population health study in the US to date, to apply and extend the previous global findings on activity inequality within the context of the US. We found that daily steps differed by sex at birth, age, body characteristics, geography, and built environment.
View Article and Find Full Text PDFJ Hand Ther
January 2025
Division of Plastic and Reconstructive Surgery, Department of Surgery, Yale School of Medicine, New Haven, CT 06510, USA. Electronic address:
Background: Physical rehabilitation is considered an important component of recovery following digital flexor tendon repair (FTR), but no studies have thoroughly characterized nationwide therapy utilization in the United States.
Purpose: The current study characterized national trends in the timing and amount of hand therapy utilization following FTR and assessed factors associated with the lack of postoperative hand therapy.
Study Design: Retrospective cohort study.
Arthroscopy
January 2025
American Hip Institute Research Foundation, Chicago, IL 60018. Electronic address:
Purpose: To identify sex-based differences in pathology, outcomes, and complications after hip arthroscopy for femoroacetabular impingement (FAI), and to compare patient-reported outcomes (PRO) scores between males and females.
Methods: The PubMed and MEDLINE databases were searched in September 2024, according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Included studies had data stratified by sex, minimum 2-year patient reported outcome (PRO) scores for hip arthroscopy in the setting of FAI and labral pathology, and a 2014 or later publication date.
Ecotoxicol Environ Saf
January 2025
State Key Lab, Institute of Food Science and Technology, Chinese Academy of Agricultural Sciences/Key Laboratory of Agro-products Quality and Safety Control in Storage and Transport Process/Laboratory of Agro-products Quality Safety Risk Assessment, Ministry of Agriculture and Rural Affairs, Beijing 100193, PR China. Electronic address:
Environmental endocrine disruptors constitute a category of exogenous compounds that interfere with the endocrine system's functions in organisms or cells. As a class of particularly representative endocrine-disrupting chemicals, the accumulation of per- and polyfluoroalkyl substances potentially leads to adverse health effects, including hormonal disruptions, developmental issues, and cancer. However, the classification of these disruptors is intricate, and the data on their potential health risks is scattered.
View Article and Find Full Text PDFMult Scler Relat Disord
December 2024
Department of Neurology, Yale New Haven Hospital, United States of America.
Introduction: Numerous immunomodulatory treatments exist for multiple sclerosis (MS), including those that deplete immune cells (e.g. anti-CD20 medications), relocate immune cells (e.
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