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A Homozygous Variant in HSD17B1 Identified in Women With Poor Ovarian Response.

Clin Genet

January 2025

NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, School of Basic Medical Sciences, Central South University, ChangSha, China.

An increasing number of patients utilizing in vitro fertilization (IVF) and assisted reproductive technology (ART) are characterized as impaired or poor ovarian responders (PORs). Owing to its unclear molecular etiology, the management of patients with age-related ovarian characteristics remains a controversial and complex clinical concern. Therefore, it is important to identify and understand the etiological causes behind POR to develop more effective and efficient management strategies for these patients.

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Background: Traditional freehand puncture relies on non-real-time computed tomography (CT) images, which significantly affects the accuracy of puncturing targets in the lower lung lobes with respiratory motion. This study aims to assess the safety and feasibility of a teleoperated robotic system and low-dose CT for the accurate real-time puncture of targets in the lungs of live pigs during breathing under fluoroscopic guidance.

Methods: Two puncture methods were analyzed: freehand and robot-assisted.

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A novel analytical method was designed and developed that exhibited ultraviolet-visible (UV-Vis), fluorescence (FL), and resonance Rayleigh scattering (RRS) signals for straightforward and comprehensive determination of monoamine oxidase B (MAO-B) using polyethylenimine-functionalized silver nanoparticles (PEI-Ag NPs). Through a facile one-step experiment, and NaOH assisted, in an aqueous solution of 100 ℃ for 40 min PEI reacted with AgNO to generate PEI-Ag NPs with a yellow color and weak blue fluorescence. Interestingly, phenylacetaldehyde (PAA), a specific product of MAO-B, causes significant enhancement of the three optical signals of UV-Vis, FL, and RRS.

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This study investigates the photophysical behaviour of Mn/Fe and Mn/Sn co-doped CsPbCl3 perovskite nanocrystals (NCs) to explore carrier dynamics and dopant interactions. Using gated photoluminescence (PL) and temperature-dependent measurements, we elucidate the impact of dopant chemistry on exciton behaviour, focusing on vibrationally assisted delayed fluorescence (VADF) and energy transfer mechanisms. The efficiency of VADF is influenced by factors such as the bandgap, temperature, quantum confinement, and host composition.

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Background: Over the past decade, numerous studies have been conducted to determine the role of homocysteine and methylenetetrahydrofolate reductase () gene polymorphisms in the pathogenesis of polycystic ovary syndrome (PCOS), yet the results are inconsistent. The aim of the current study was to determine the association between homocysteine levels (Hcy), ) and A1298C polymorphisms, and pregnancy outcomes in Georgian women with PCOS.

Materials And Methods: This case-control study included 177 female participants, of which 96 women were diagnosed with PCOS, and 81 age-matched women were without PCOS.

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