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Knowledge of the natural history of deficiency disorder (CDD) is limited to the results of cross-sectional analysis of largely pediatric cohorts. Assessment of outcomes in adulthood is critical for clinical decision-making and future precision medicine approaches but is challenging because of the diagnostic gap and duration of follow-up that would be required for prospective studies. We aimed to delineate the natural history retrospectively from adulthood.
View Article and Find Full Text PDFBeyond Mentorship: Walking the Talk Through Sponsorship to Support Women in Academic Surgery.
J Surg Educ
January 2025
Department of Surgery, Rutgers New Jersey Medical School, Newark, New Jersey. Electronic address:
Sponsorship is gaining recognition in academic surgery as an essential advancement beyond mentorship, particularly for women. While mentorship focuses on building the relationship between mentor and mentee to provide guidance, advice, and coaching, sponsorship entails more active involvement and buy-in from the senior towards the performance and growth of the junior. The ABCDs of sponsorship - Amplifying, Boosting, Connecting, and Defending - are powerful, concrete actions that can make a significant impact in the career and life of a future physician.
View Article and Find Full Text PDFPerspectives of Midwives and Nurse Practitioners in Kentucky on Exercise Counseling During Pregnancy: A Qualitative Study.
SAGE Open Nurs
January 2025
Exercise Science, Western Kentucky University, Bowling Green, KY, USA.
Introduction: Healthcare professionals are in an optimal position to deliver exercise information to pregnant women, yet previous research suggests this seldom happens. Midwives and nurse practitioners, who may have more time with pregnant women, are particularly well suited for this role.
Objectives: This qualitative study examined the exercise advice and counseling provided by midwives and nurse practitioners in Kentucky, focusing on the barriers they face.
-related neurodevelopmental disorders: a systematic review on genotype-phenotype correlations.
J Med Genet
January 2025
Department of Pediatrics, NHO Beppu Medical Center, Beppu, Oita, Japan
Introduction: Genotype-phenotype correlations in -related neurodevelopmental disorders (-NDDs) remain unclear. This systematic review aimed to clarify these correlations.
Methods: Searches of PubMed and Embase were conducted on 8 August 2024 to identify studies that had investigated genetically diagnosed NDDs (5q31.
Longitudinal qualitative assessment of meaningful symptoms and relevance of WATCH-PD digital measures for people with early Parkinson's.
J Neurol
January 2025
Center for Health + Technology, University of Rochester Medical Center, Rochester, NY, USA.
Background: Longitudinal qualitative data on what matters to people with Parkinson's disease are lacking and needed to guide patient-centered clinical care and development of outcome measures.
Objective: To evaluate change over time in symptoms, impacts, and relevance of digital measures to monitor disease progression in early Parkinson's.
Methods: In-depth, online symptom mapping interviews were conducted with 33 people with early Parkinson's at baseline and 1 year later to evaluate (A) symptoms, (B) impacts, and (C) relevance of digital measures to monitor personally relevant symptoms.
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