Results 1 to 10 of about 1,685,969 (303)

Epidemiology of birth defects based on a birth defects surveillance system in southwestern China and the associated risk factors

open access: yesFrontiers in Pediatrics, 2023
BackgroundBirth defects (BDs) are associated with many potential risk factors, and its causes are complex.ObjectivesThis study aimed to explore the epidemiological characteristics of BDs in Guangxi of China and the associated risk factors of BDs ...
Zhenren Peng   +55 more
doaj   +1 more source

Resveratrol’s neural protective effects for the injured embryoid body and cerebral organoid

open access: yesBMC Pharmacology and Toxicology, 2022
Objective Resveratrol (RSV) is a polyphenol compound found in grapes, veratrum and other plants. It has been reported that RSV has anti-inflammatory, anti-oxidant, anti-cancer and other pharmacological effects.
Yanli Wang   +5 more
doaj   +1 more source

Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing

open access: yesBMC Medical Genomics, 2022
SMG9-deficiency syndrome, also known as heart and brain malformation syndrome, is a very rare congenital genetic disorder mainly characterized by brain, heart, and growth and developmental abnormalities.
Qi Yang   +5 more
doaj   +1 more source

Novel compound heterozygous variants in the RPL3L gene causing dilated cardiomyopathy type-2D: a case report and literature review

open access: yesBMC Medical Genomics, 2023
Background Dilated cardiomyopathy type-2D (CMD2D) is a rare heart disease causing a severe cardiomyopathy with neonatal onset and rapid progression to cardiac decompensation and death in untreated patients.
Qi Yang   +7 more
doaj   +1 more source

Exploring the mechanism of physcion-1-O-β-D-monoglucoside against acute lymphoblastic leukaemia based on network pharmacology and experimental validation

open access: yesHeliyon, 2023
Objective: To explore the mechanism of PG against acute lymphoblastic leukaemia (ALL) by network pharmacology and experimental verification in vitro. Methods: First, the biological activity of PG against B-ALL was determined by CCK-8 and flow cytometry ...
Jing Liu   +5 more
doaj   +1 more source

Exploring the pharmacological mechanisms of Shuanghuanglian against T-cell acute lymphoblastic leukaemia through network pharmacology combined with molecular docking and experimental validation

open access: yesPharmaceutical Biology, 2023
Context Due to the poor prognosis of T-cell acute lymphoblastic leukaemia (T-ALL), there is an urgent need to identify safer and more cost-effective drugs.Objective This study evaluated the antitumour activity of Shuanghuanglian (SHL) on T-ALL cells and ...
You Yang   +11 more
doaj   +1 more source

Case Report: Christianson Syndrome Caused by SLC9A6 Mutation: From Case to Genotype-Phenotype Analysis

open access: yesFrontiers in Genetics, 2021
Christianson syndrome (CS) is an X-linked neurodevelopmental syndrome characterized by microcephaly, epilepsy, ataxia, and severe generalized developmental delay.
Yueyun Lan   +22 more
doaj   +1 more source

Changes in prevalence and perinatal outcomes of congenital hydrocephalus among Chinese newborns: a retrospective analysis based on the hospital-based birth defects surveillance system

open access: yesBMC Pregnancy and Childbirth, 2017
Background Little is known about the epidemiology of congenital hydrocephalus (CH) in China. This study aimed to depict recent changes in CH prevalence and perinatal outcomes of the affected newborns.
Ling Yi   +9 more
doaj   +1 more source

Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly

open access: yesMolecular Genetics & Genomic Medicine, 2019
Background Rubinstein–Taybi syndrome (RSTS) is a rare genetic disease characterized by broad thumbs and halluces, facial dysmorphisms, short stature, and intellectual disability.
Sha Yu   +10 more
doaj   +1 more source

Anisocytosis predicts postoperative renal replacement therapy in patients undergoing heart valve surgery

open access: yesCardiology Journal, 2020
BACKGROUND: Acute kidney injury (AKI) is one of the serious postoperative complications in patients undergoing heart valve surgery. The aim of the present study was to identify selected biomarkers to predict AKI requiring renal replacement.
Piotr Duchnowski   +3 more
doaj   +1 more source

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