It is suggested that the major genetic factor in determining the birth of children with neural tube defects may be a single X-linked gene. It acts as an X-linked dominant, not by producing neural tube defects, but by enabling the affected fetus to survive selective spontaneous abortion. This mechanism, mediated at the deciduoplacental junction, may be under the control of both maternal and fetal genes. With more mutant alleles, survival would become more likely, reaching a maximum in the homozygous affected female fetus of a homozygous affected mother. The female excess in anancephaly is greater than that in spina bifida because of its prenatal severity, thus requiring relatively more mutant alleles for survival.
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http://dx.doi.org/10.1136/jmg.16.3.210 | DOI Listing |
PLoS One
January 2025
Department of Genetics, National Institute of Medical Sciences and Nutrition Salvador Zubirán (INCMNSZ), Mexico City, Mexico.
Myelomeningocele (MMC) is the most severe and disabling form of spina bifida with chronic health multisystem complications and social and economic family and health systems burden. In the present study, we aimed to investigate the genetic risk estimate for MMC in a cohort of 203 Mexican nuclear families with discordant siblings for the defect. Utilizing a custom Illumina array, we analyzed 656 single nucleotide polymorphisms (SNPs) of 395 candidate genes to identify a polygenic risk profile for MMC.
View Article and Find Full Text PDFPurpose: Neurogenic lower urinary tract dysfunction (NLUTD) is highly prevalent among patients with neurologic disorders. Some studies have demonstrated that implantable neuromodulation can improve symptoms of NLUTD. We seek to describe our experience with sacral and pudendal neuromodulation in patients with NLUTD.
View Article and Find Full Text PDFJ Pediatr Urol
January 2025
Department of Women and Children's Health, School of Life Course Sciences, Kings College London, London, UK; Children's Bladder Service, Evelina London Children's Hospital, Westminster Bridge Road, London, SE1 7EH, UK.
Introduction: The Mirabegron-anticholinergic (MAC) combination has proven effective as a step-up strategy in managing paediatric neurogenic bladder following anticholinergic medication and botulinum toxin (BTX) therapy. This study assesses the long-term efficacy of MAC in children with neurogenic bladder.
Patients And Methods: A retrospective chart review was conducted from 2015 to 2023, including consecutive paediatric patients receiving Mirabegron (25/50 mg) with an anticholinergic agent (solifenacin 16, tolterodine 7, oxybutynin 7, trospium 1).
J Acquir Immune Defic Syndr
January 2025
Makerere University - Johns Hopkins University Research Collaboration, Kampala, Uganda.
Introduction: We assessed the risk of adverse pregnancy and birth outcomes and birth defects among women living with HIV (WLHIV) on antiretroviral therapy (ART) and HIV-negative women.
Methods: We analyzed data on live births, stillbirths, and spontaneous abortions during 2015-2021 from a hospital-based birth defects surveillance system in Kampala, Uganda. ART regimens were recorded from hospital records and maternal self-reports.
BJUI Compass
December 2024
Department of Urology and Pediatric Urology Nantes Université, Centre Hospitalo-Universitaire de Nantes Nantes France.
Objectives: To show that robot-assisted laparoscopic cutaneous continent urinary diversion (RALCCUD) is feasible and safe; however, data on clinical outcomes in adults are lacking.
Materials And Methods: We conducted a retrospective study of all adults who underwent RALCCUD between 2017 and 2022 at a single tertiary reference centre.Patient characteristics, clinical information and perioperative outcomes were recorded.
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