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A De Novo Frameshift Variant in SMC1A Causes Non-Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature Review.
Mol Genet Genomic Med
January 2025
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Background: Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder. Although individuals with variants in the SMC1A gene are less commonly seen in CdLS, they exhibit a high incidence of epilepsy and atypical phenotypic variability.
Methods: The clinical data of a patient with non-classic CdLS and epilepsy caused by an SMC1A variant were summarized.
Design and Characterization of a Gene-Encoding DNA Nanoparticle in a Cell-Free Transcription-Translation System.
ACS Appl Nano Mater
June 2024
Department of Chemistry, College of Arts and Sciences, Case Western Reserve University, Cleveland, Ohio 44106, United States.
DNA nanotechnology has made initial progress toward developing gene-encoded DNA origami nanoparticles (NPs) that display potential utility for future gene therapy applications. However, due to the challenges involved with gene delivery into cells including transport through the membrane, intracellular targeting, and inherent expression of nucleases along with interference from other active proteins, it can be difficult to more directly study the effect of DNA NP design on subsequent gene expression. In this work, we demonstrate an approach for studying the expression of gene-encoding DNA origami NPs without the use of cells.
View Article and Find Full Text PDFIntroduction: Benign prostatic hyperplasia (BPH) affects a significant proportion of aging males, often requiring surgical intervention when conservative treatments fail.
Case Description: This case report details the management of a 58-year-old male with severe lower urinary tract symptoms and a markedly enlarged prostate, presenting with bladder stones and persistent obstruction despite medication. The patient underwent an open simple prostatectomy but developed bladder neck contracture and recurrent urinary retention, necessitating a suprapubic cystostomy.
Unveiling the safety landscape: A comprehensive review of the toxicological profile of facial aesthetic implants and biomaterials.
Natl J Maxillofac Surg
November 2024
Department of ENT, All India Institute of Medical Sciences (AIIMS), Deoghar, Jharkhand, India.
Exploring diverse biomaterials and implants in the ear, nose, and throat by understanding adverse effects and post-usage events. Literature was obtained from Scopus, PubMed, Google Scholar, and Web of Science. A comprehensive analysis was conducted on original research studies, case reports, and case series spanning from December 2010 to May 2022.
View Article and Find Full Text PDFAlkenyl pheromones: Raman spectroscopic analysis, DFT modeling, and machine learning for stereoisomerism evaluation.
Spectrochim Acta A Mol Biomol Spectrosc
January 2025
National Institute for Research and Development of Isotopic and Molecular Technologies, 67-103 Donat Street, 400293 Cluj-Napoca, Romania; Babes-Bolyai University, 1 M. Kogalniceanu Street, 400084 Cluj-Napoca, Romania. Electronic address:
Alkenyl pheromones are a class of insect sex pheromones that are characterized by the presence of one or more double bonds, which can be either in the E(trans) or Z(cis) configuration. This structural variation is essential in mating, as it influences reproductive behavior and provides a potential method for insect control. As a base for rapid and in-situ screening of synthetic pheromones or pheromone-based products, this study explores the potential of Raman spectroscopy to differentiate between the two geometrical isomers, E(trans) and Z(cis), of the alkenyl pheromones.
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