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Reproductive Risk Estimation Calculator for Balanced Translocation Carriers: An Improved Web-based Resource for Medical Genetics Professionals.
Curr Protoc
January 2025
Myriad Genetic Laboratories, Inc., Salt Lake City, Utah.
Balanced translocation carriers experience elevated reproductive risks, including pregnancy loss and children with anomalies due to generating chromosomally unbalanced gametes. While understanding the likelihood of producing unbalanced conceptuses is critical for individuals to make reproductive decisions, risk estimates are difficult to obtain as most balanced translocations are unique. To improve reproductive risk estimates, Drs.
View Article and Find Full Text PDFAccuracy and variability in clinical predictions of speech recognition outcomes for cochlear implant users.
Int J Audiol
January 2025
Department of Otolaryngology, Vanderbilt University Medical Center, Nashville, TN, USA.
Objectives: An improvement in speech perception is a major well-documented benefit of cochlear implantation (CI), which is commonly discussed with CI candidates to set expectations. However, a large variability exists in speech perception outcomes. We evaluated the accuracy of clinical predictions of post-CI speech perception scores.
View Article and Find Full Text PDFPhenotypical Characterization of Gastroenterological and Metabolic Manifestations in Patients With Williams-Beuren Syndrome.
Am J Med Genet A
January 2025
Gastroenterology and Endoscopy Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Gastrointestinal (GI) symptoms are common in patients with Williams-Beuren syndrome (WBS), but their prevalence and possible causes are not yet fully known. This study assessed GI symptoms' prevalence and their possible origin by performing a predefined set of tests in adult WBS patients. Laboratory tests and a questionnaire were administered to assess GI symptoms and dietary habits.
View Article and Find Full Text PDFAssociation between Pre-pregnancy BMI and Pregnancy Outcomes in Women with Gestational Diabetes: A Retrospective Cohort Study.
Pak J Med Sci
January 2025
Lin Lin Department of Obstetrics and Gynecology, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical, University, Fuzhou, Fujian, China.
Background & Objective: The specific influence of the pre-pregnancy body mass index (PPBMI) on women with gestational diabetes mellitus (GDM) is unclear. Our objective was to investigate how PPBMI categories affect pregnancy and neonatal outcomes in women with GDM.
Methods: A retrospective cohort study was conducted using data from patients attending the Fujian Maternity and Child Health Hospital (Fuzhou, China) from 2021 to 2023.
The dilemma of X-linked agammaglobulinemia carriers.
J Allergy Clin Immunol Glob
February 2025
Department of Molecular Medicine, Sapienza University, Rome, Italy.
Background: Many patients with X-linked agammaglobulinemia (XLA) nowadays have reached adulthood, as well as their sisters, possibly carriers of a deleterious Bruton tyrosine kinase variant. Studies on motherhood outcomes in families with XLA are lacking.
Objective: We sought to investigate adherence to carrier status screening, interest in preconception and prenatal genetic counseling, and reproductive decisions in relatives with XLA.
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