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Corrigendum to "Two livebirths achieved in cases of hypergonadotropic hypogonadism nonobstructive azoospermia, treated with GnRH agonist and gonadotrophins: a case series and review of the literature" [JBRA Assist Reprod. 2024;28(3):521-525].
JBRA Assist Reprod
March 2025
Fertility/FERTGROUP-Medicina Reprodutiva. São Paulo - SP, Brazil.
A nonsense variant in the C-terminal transactivation domain of the EBF3 gene in an individual with intellectual disability and behavioural disorder: case report and literature review.
Psychiatr Genet
February 2025
Department of Medical Genetics and Genomic Medicine, School of Medical Sciences, Universidade Estadual de Campinas, São Paulo, Brazil.
Heterozygous variants in the Early B cell factor 3 (EBF3) have been reported in individuals presenting with hypotonia, ataxia and delayed development syndrome (HADDS) (MIM#617330). However, individuals with pathogenic variants in EBF3 show phenotypic heterogeneity and very few variants in the C-terminal domain have been described. We report on a heterozygous de-novo variant in the EBF3 gene in an individual with neurodevelopmental delay and behavioural problems.
View Article and Find Full Text PDFGynecologic Leiomyosarcoma With Epithelioid Features and PGR::NR4A3 Gene Fusion: First Report in the Vulva.
Int J Gynecol Pathol
March 2025
Department of Pathology, National University Health System.
Vulval leiomyosarcomas with variant features are rare with limited data available in the literature compared to their uterine counterparts. Gynecologic leiomyosarcoma with nuclear receptor 4A3 (NR4A3) gene fusion is a rare, recently described neoplasm that has been reported mostly in the uterus and rarely in the pelvis. Herein, we report the first case of this entity occurring as a primary vulva tumor in a 46-year-old patient.
View Article and Find Full Text PDFAssisted Reproductive Technology and Risk of Childhood Cancer Among the Offspring of Parents With Infertility: Systematic Review and Meta-Analysis.
JMIR Cancer
March 2025
Department of Reproductive Medicine, Puer People's Hospital, 44 Zhenxing Avenue, Puer, Yunnan, 665000, China, 86 18082997667, 86 2121114.
Background: The relationship between assisted reproductive technology (ART) and childhood cancer risk has been widely debated. Previous meta-analyses did not adequately account for the impact of infertility, and this study addresses this gap.
Objective: Our primary objective was to assess the relative risk (RR) of childhood cancer in infertile populations using ART versus non-ART offspring, with a secondary focus on comparing frozen embryo transfer (FET) and fresh embryo transfer (fresh-ET).
Knee arthrodesis with intramedullary nail in end-stage periprosthetic joint infection with extensor mechanism failure: a retrospective outcome and reinfection rate analysis of a case series.
Musculoskelet Surg
March 2025
IRCCS Istituto Ortopedico Rizzoli, Via Cesare Pupilli 1, 40136, Bologna, BO, Italy.
Background: Chronic periprosthetic knee infection is a highly debilitating complication. In case of failed R-TKA, with significant bone loss and extensor mechanism failure, re-revision procedures could not even be feasible. The most appropriate therapeutic strategy in these cases remains unclear.
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