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http://dx.doi.org/10.1136/jmg.39.3.e15 | DOI Listing |
Orphanet J Rare Dis
January 2025
The Genetics and Prenatal Diagnosis Center, The Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Jianshe Rd, Erqi District, Zhengzhou, 450052, Henan, China.
Objective: Spinal muscular atrophy (SMA) is a motor neuron disorder encompassing 5q and non-5q forms, causing muscle weakness and atrophy due to spinal cord cell degeneration. Understanding its genetic basis is crucial for genetic counseling and personalized treatment options.
Methods: This study retrospectively analyzed families of patients suspected of SMA at our institution from February 2006 to March 2024.
Reprod Biol Endocrinol
January 2025
Department of Clinical Psychology and Psychotherapy, University of Zurich, Binzmühlestrasse 14, Zurich, 8050, Switzerland.
Background: Despite the growing use of social egg freezing (SEF), research focusing on its psychological aspects is lacking. This study aimed to investigate possible psychological predictors, reasons, and outcomes of SEF in German-speaking countries.
Methods: The cross-sectional study included 1,131 women (average age 31 years) who had never used medical egg freezing.
BMC Womens Health
January 2025
Global Health Nursing, Graduate School of Nursing Science, St. Luke's International University, 10-1 Akashi-cho, Chuo-ku, Tokyo, 104-0044, Japan.
Background: Preconception care is expected to prevent diseases, promote health, and improve pregnancy outcomes. Although a consensus exists on the efficacy of folic acid supplementation and preconception vaccination, evidence regarding comprehensive approaches to preconception care targeting the general population remains lacking. We aimed to identify and examine preconception care programs delivered to reproductive-aged women and men to promote behavioral change.
View Article and Find Full Text PDFInt J Gynaecol Obstet
January 2025
Robinson Research Institute, University of Adelaide, Adelaide, Australia.
Fertility preservation services must offer information to patients, prior to their visit, so that they have time to read and digest the information, and also have the opportunity to write down any questions they wish to ask at the oncofertility consultation appointment. Appointments must be offered immediately, based on a specifically designed referral form. Each fertility service providing oncology cryopreservation should have a robust map of the patient's journey to include referral, counseling session, medical consultation, informed consent, treatment plan, and follow-up.
View Article and Find Full Text PDFThe use of assisted reproductive technology (ART) is growing, both to assist individuals with infertility and for fertility preservation. Individuals with cardiovascular disease (CVD), or risk factors for CVD, are increasingly using ART. Thus, knowing how to care for patients undergoing ART is important for the cardiovascular clinician.
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