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Exploring key embryonic developmental morphokinetic parameters that affect clinical outcomes during the PGT cycle using time-lapse monitoring systems.
BMC Pregnancy Childbirth
December 2024
Reproductive Medical Center, Henan Province Key Laboratory of Reproduction and Genetics, The First Affiliated Hospital of Zhengzhou University, No. 1 East Jianshe Road, Erqi District, Zhengzhou, China.
Research Question: Is it possible to predict blastocyst quality, embryo chromosomal ploidy, and clinical pregnancy outcome after single embryo transfer from embryo developmental morphokinetic parameters?
Design: The morphokinetic parameters of 1011 blastocysts from 227 patients undergoing preimplantation genetic testing were examined. Correlations between the morphokinetic parameters and the quality of blastocysts, chromosomal ploidy, and clinical pregnancy outcomes following the transfer of single blastocysts were retrospectively analyzed.
Results: The morphokinetic parameters of embryos in the high-quality blastocyst group were significantly shorter than those in the low-quality blastocyst group (p < 0.
Antimicrobial resistance, virulence gene profiling, and genetic diversity of multidrug-resistant Pseudomonas aeruginosa isolates in Mazandaran, Iran.
BMC Microbiol
December 2024
Department of Microbiology and Virology, Faculty of Medicine, Mazandaran University of Medical Sciences, Sari, Iran.
Background: Pseudomonas aeruginosa is a major cause of healthcare-associated infections (HAIs), particularly in immunocompromised patients, leading to high morbidity and mortality rates. This study aimed to investigate the antimicrobial resistance patterns, virulence gene profiles, and genetic diversity among P. aeruginosa isolates from hospitalized patients in Mazandaran, Iran.
View Article and Find Full Text PDFClinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140.
Am J Kidney Dis
December 2024
Service de Néphrologie, Hémodialyse et Transplantation Rénale, Centre de référence MARHEA, CHRU Brest, Brest, France; Institut de Recherche Expérimentale et Clinique (IREC), UCLouvain, Brussels, Belgium. Electronic address:
Rationale & Objective: Monoallelic predicted Loss-of-Function (pLoF) variants in IFT140 have recently been associated with an autosomal dominant polycystic kidney disease (ADPKD)-like phenotype. This study sought to enhance the characterization of this phenotype.
Study Design: Case series.
Family Genetic Risk Communication and Reverse Cascade Testing in the BabySeq Project.
Genet Med
December 2024
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA; Harvard Medical School, Boston, MA.
Purpose: Genomic sequencing of newborns (NBSeq) can initiate disease surveillance and therapy for children, and may identify at-risk relatives through reverse cascade testing. We explored genetic risk communication and reverse cascade testing among families of newborns who underwent exome sequencing and had a risk for autosomal dominant disease identified.
Methods: We conducted semi-structured interviews with parents of newborns enrolled in the BabySeq Project who had a pathogenic or likely-pathogenic (P/LP) variant associated with an autosomal dominant (AD) childhood- and/or adult-onset disease returned.
Utilisation of Genetic Testing of Inherited Retinal Diseases in an Australian Public Tertiary Hospital Setting.
Clin Exp Ophthalmol
December 2024
Discipline of Ophthalmology and Visual Sciences, The University of Adelaide, Adelaide, South Australia, Australia.
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