Results 1 to 10 of about 951,804 (263)

Association Between Diet-Related Inflammation and COPD: Findings From NHANES III

open access: yesFrontiers in Nutrition, 2021
Background and Aims: Little is known about diet-related inflammation in chronic obstructive pulmonary disease (COPD). In this study, we aimed to explore the association between COPD and dietary inflammatory index (DII) scores in adults over 40 years old ...
Haiyue Liu   +17 more
doaj   +1 more source

Adoption of Compound Echocardiography under Artificial Intelligence Algorithm in Fetal Congenial Heart Disease Screening during Gestation

open access: yesApplied Bionics and Biomechanics, 2022
This research was aimed at exploring the diagnostic and screening effect of composite echocardiography based on the artificial intelligence (AI) segmentation algorithm on fetal congenital heart disease (CHD) during pregnancy, so as to reduce the birth ...
Guowei Han   +7 more
doaj   +1 more source

A novel BRCA1 splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in ATM: A case report

open access: yesFrontiers in Oncology, 2023
The widespread adoption of gene panel testing for cancer predisposition is leading to the identification of an increasing number of individuals with clinically relevant allelic variants in two or more genes.
Mara Colombo   +8 more
doaj   +1 more source

Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters

open access: yesMolecular Genetics & Genomic Medicine, 2021
Background The rapid spread of genome‐wide next‐generation sequencing in the molecular diagnosis of rare genetic disorders has produced increasing evidence of multilocus genomic variations in cases with a previously well‐characterized molecular diagnosis.
Leonardo Gatticchi   +9 more
doaj   +1 more source

A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient

open access: yesMolecular Cytogenetics, 2017
Background Deletions in Xq21 cause various congenital defects in males including choroideremia, deafness and mental retardation, depending on their size and gene content.
Siying Liang   +4 more
doaj   +1 more source

Downregulation by CNNM2 of ATP5MD expression in the 10q24.32 schizophrenia-associated locus involved in impaired ATP production and neurodevelopment

open access: yesnpj Schizophrenia, 2021
Genome-wide association studies (GWAS) have accelerated the discovery of numerous genetic variants associated with schizophrenia. However, most risk variants show a small effect size (odds ratio (OR)
Zhongju Wang   +12 more
doaj   +1 more source

Issues in Genetic Testing [PDF]

open access: yesClinical Chemistry, 1999
“Issues in Genetic Testing” was the theme for the Eighth Clinical Chemistry Forum of the American Association for Clinical Chemistry. The 2-day meeting was held in Arlington, Virginia, on November 3 and 4, 1998, and was jointly sponsored on this occasion by the Association for Molecular Pathology.
D S, Young, D G, Leonard
openaire   +5 more sources

Genetic testing for asthma [PDF]

open access: yesEuropean Respiratory Journal, 2008
Asthma is a genetically complex disease caused by multiple genetic and environmental factors. An increasing number of asthma susceptibility genes are currently being identified. The present study addresses the question as to whether this genetic information can be used to predict asthma, particularly in pre-school children.The predictive value of a ...
Koppelman, G H   +2 more
openaire   +2 more sources

Diagnostic Value of Vaginal Microecology, Serum miR-18a, and PD-L1 for Identifying HPV-Positive Cervical Cancer

open access: yesTechnology in Cancer Research & Treatment, 2021
Objective: We aimed to investigate the diagnostic value of the vaginal microecology, serum miR-18a, and programmed death ligand-1 (PD-L1) for human papillomavirus (HPV)-positive cervical cancer.
Yumei Zhang   +5 more
doaj   +1 more source

Mesenchymal Stem Cell-Derived Exosomes Ameliorate Alzheimer’s Disease Pathology and Improve Cognitive Deficits

open access: yesBiomedicines, 2021
The accumulation of extracellular β-amyloid (Aβ) plaques within the brain is unique to Alzheimer’s disease (AD) and thought to induce synaptic deficits and neuronal loss. Optimal therapies should tackle the core AD pathophysiology and prevent the decline
Yi-An Chen   +7 more
doaj   +1 more source

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