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Identifying novel heterozygous PI4KA variants in fetal abnormalities.
BMC Med Genomics
January 2025
Ultrasound Diagnosis Department, Maternal and Child Health Hospital of Hubei Province, Wuhan, 430070, China.
Background: The clinical manifestations of PI4KA-related disorders are characterized by considerable variability, predominantly featuring neurological impairments, gastrointestinal symptoms, and a combined immunodeficiency. The aim of this study was to delineate the novel spectrum of PI4KA variants detected prenatally and to assess their influence on fetal development.
Methods: A thorough fetal ultrasound screening was conducted, supplemented by both antenatal and post-abortion magnetic resonance imaging (MRI) studies.
Noninvasive imaging biomarker reveals invisible microscopic variation in acute ischaemic stroke (≤ 24 h): a multicentre retrospective study.
Sci Rep
January 2025
Department of Radiology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jing Wu Road, No. 324, Jinan, 250021, Shandong, China.
To develop and validate non-contrast computed tomography (NCCT)-based radiomics method combines machine learning (ML) to investigate invisible microscopic acute ischaemic stroke (AIS) lesions. We retrospectively analyzed 1122 patients from August 2015 to July 2022, whose were later confirmed AIS by diffusion-weighted imaging (DWI). However, receiving a negative result was reported by radiologists according to the NCCT images.
View Article and Find Full Text PDFDesign and synthesis three novel series of derivatives using natural acetylcholinesterase inhibitor-RLMS as template and in vitro, in vivo and in silico activities verification.
Eur J Med Chem
January 2025
College of Chemical Engineering, Shenyang University of Chemical Technology, Shenyang, Liaoning, 110142, PR China; Institute of Functional Molecules, Shenyang University of Chemical Technology, Shenyang, Liaoning, 110142, PR China. Electronic address:
Acetylcholinesterase (AChE) is a pivotal enzyme in nerve conduction, controlling its activity with its inhibitor (AChEI) is crucial for the treatment of Alzheimer's disease (AD). However, current AChEIs are associated with considerable adverse effects. Previous work has identified 2α,3β,19α,23-tetrahydroxy-12-ene-28-oic acid (RLMS) as a promising natural AChEI.
View Article and Find Full Text PDFMulti-omics sequencing of gastroesophageal junction adenocarcinoma reveals prognosis-relevant key factors and a novel immunogenomic classification.
Gastric Cancer
January 2025
Department of Biochemistry and Molecular Biology, Key Laboratory of Breast Cancer Prevention and Therapy, Ministry of Education, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Key Laboratory of Cancer Prevention and Therapy, Tianjin's Clinical Research Center for Cancer, Tianjin, 300060, China.
Background: Gastroesophageal junction adenocarcinoma (GEJAC) exhibits distinct molecular characteristics due to its unique anatomical location. We sought to investigate effective and reliable molecular classification of GEJAC to guide personalized treatment.
Methods: We analyzed the whole genomic, transcriptomic, T-cell receptor repertoires, and immunohistochemical data in 92 GEJAC patients and delineated the landscape of genetic and immune alterations.
A synergetic approach for multidimensional drought assessment in the Indian agro-climatic zone using coherency, propagation and AHP techniques.
Environ Sci Pollut Res Int
January 2025
Department of Agricultural Engineering, Institute of Agricultural Sciences, Banaras Hindu University, Varanasi, India.
Drought is one of the most detrimental natural calamities to the economy. Despite its significant consequences, the evolution from meteorological to agricultural and hydrological droughts still needs to be explored. A thorough investigation was carried out in India's eastern hills and plateau region to determine the extent of drought's impact through indices.
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