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Background: An estimated 17% of all couples worldwide are involuntarily childless (infertile). The clinically identifiable causes of infertility can be found in the male or female partner or in both. The molecular pathophysiology of infertility still remains unclear in many cases but is increasingly being revealed by genetic analyses.
View Article and Find Full Text PDFThe Splice Index as a prognostic biomarker of strength and function in myotonic dystrophy type 1.
J Clin Invest
January 2025
Center for Inherited Myology Research, Virginia Commonwealth University, Richmond, United States of America.
Background: Myotonic dystrophy type 1 (DM1) is a multisystemic, CTG repeat expansion disorder characterized by a slow, progressive decline in skeletal muscle function. A biomarker correlating RNA mis-splicing, the core pathogenic disease mechanism, and muscle performance is crucial for assessing response to disease-modifying interventions. We evaluated the Myotonic Dystrophy Splice Index (SI), a composite RNA splicing biomarker incorporating 22 disease-specific events, as a potential biomarker of DM1 muscle weakness.
View Article and Find Full Text PDFAge at Menopause and Development of Type 2 Diabetes in Korea.
JAMA Netw Open
January 2025
Department of Family Medicine, Korea University Guro Hospital, Korea University College of Medicine, Seoul, Republic of Korea.
Importance: There is limited evidence regarding the association between age at menopause and incident type 2 diabetes (T2D).
Objective: To investigate whether age at menopause and premature menopause are associated with T2D incidence in postmenopausal Korean women.
Design, Setting, And Participants: This population-based cohort study was conducted among a nationally representative sample from the Korean National Health Insurance Service database of 1 125 378 postmenopausal women without T2D who enrolled in 2009.
Fundus Autofluorescence Variation in Geographic Atrophy of Age-Related Macular Degeneration: A Clinicopathologic Correlation.
Invest Ophthalmol Vis Sci
January 2025
Vitreous Retina Macula Consultants of New York, New York, United States.
Purpose: The purpose of this study was to develop ground-truth histology about contributors to variable fundus autofluorescence (FAF) signal and thus inform patient selection for treating geographic atrophy (GA) in age-related macular degeneration (AMD).
Methods: One woman with bilateral multifocal GA, foveal sparing, and thick choroids underwent 535 to 580 nm excitation FAF in 6 clinic visits (11 to 6 years before death). The left eye was preserved 5 hours after death.
A Descriptive Analysis of the Seasonal Patterns of Bone Stress Injury Incidence in Division I Collegiate Distance Runners.
Am J Sports Med
January 2025
Department of Orthopaedic Surgery, Division of Physical Medicine and Rehabilitation, Stanford University, Stanford, California, USA.
Background: A bone stress injury (BSI) is a common overuse injury in collegiate athletes, particularly cross-country and track and field runners. Limited work describes the seasonality of BSIs or the differences in rates and anatomic locations of BSIs in collegiate runners.
Purpose: To describe seasonally related trends in anatomic locations of BSIs in National Collegiate Athletic Association (NCAA) Division I male and female middle- and long-distance runners.
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