Publications by authors named "Yun-Yan He"
Article Synopsis
- EP400 is a gene that encodes an essential protein for ATP-dependent chromatin remodeling, and its role in diseases is not well understood, although this study suggests a link to epilepsy and neurodevelopmental disorders (NDDs).
- Researchers conducted whole-exome sequencing on 402 families and found EP400 variants associated with individuals experiencing epilepsy and NDDs, with some variants being inherited and others newly formed.
- The study also demonstrated that EP400 is crucial during brain development, particularly in neurons, and its deficiency can lead to significant neurological issues, making it a potentially key player in these conditions.
Article Synopsis
- - The study examines the impact of IKZF1 deletion on prognosis in pediatric patients with B-cell precursor acute lymphoblastic leukemia (BCP-ALL) and evaluates whether intensified chemotherapy can improve outcomes.
- - Results showed that patients with IKZF1 deletion had worse early treatment responses, lower disease-free survival (DFS), and overall survival (OS) rates compared to those without the deletion, although the cumulative incidence of relapse was similar between both groups.
- - Intensive chemotherapy was found to significantly improve DFS in the IKZF1 group, especially in patients with the BCR::ABL positive subtype, suggesting that intensified treatment could be beneficial for certain patients despite their initial poor prognosis.
Article Synopsis
- The study investigates the gene responsible for clustering NMDARs at synapses, linked to X-linked intellectual developmental disorder-90, focusing on its association with epilepsy and genotype-phenotype correlations.
- Whole-exome sequencing identified damaging variants in seven epilepsy patients without hemizygous controls, showing varied seizure presentations and electroencephalography results.
- Network analysis indicated the gene interacts with numerous other genes related to neurodevelopmental disorders, with patients having variants in functional domains experiencing poorer seizure control compared to those with variants outside these areas.
Purpose: ATP6V1A variants have been identified in patients with highly variable phenotypes such as autosomal dominant epileptic encephalopathy and autosomal recessive cutis laxa. However, the mechanism underlying phenotype variation is unknown. We screened ATP6V1A variants in patients with epilepsy and analyzed the genotype-phenotype correlation to explain the mechanism underlying phenotypic variations.
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- The study investigates genetic variants linked to developmental and epileptic encephalopathy 18 (DEE-18) and their effects on neurological development, aiming to clarify the relationship between these genetic factors and clinical outcomes.
- Six unrelated patients with different forms of epilepsy were analyzed, revealing various mutations that affected the severity and type of seizures they experienced; notably, biallelic null mutations led to more severe DEE, while biallelic missense variants resulted in milder epilepsy.
- The findings broaden the understanding of how specific genetic variants influence epilepsy phenotypes, suggesting a link between recessive variants and both severe and milder forms of epilepsy without developmental delays.
The gene, predominantly distributed in neurons, plays an essential role in controlling the resting membrane potential and regulating cellular excitability. Previously, only two variants were identified to be associated with human disease, facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth (FHEIG) syndrome. In this study, we performed trio-based whole exon sequencing (WES) in a cohort of patients with epilepsy.
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- * Found two significant mutations in unrelated families related to FS and EFS+, which negatively affect protein stability and function.
- * The study highlights the importance of screening for these mutations to better distinguish between FS/EFS+ and similar conditions like Dravet syndrome, aiding in more effective treatment options.
Objective: Even though childhood acute lymphoblastic leukemia (ALL) has an encouraging survival rate in recent years, some patients are still at risk of relapse or even death. Therefore, we aimed to construct a nomogram to predict event-free survival (EFS) in patients with ALL.
Method: Children with newly diagnosed ALL between October 2016 and July 2021 from 18 hospitals participating in the South China children's leukemia Group (SCCLG) were recruited and randomly classified into two subsets in a 7:3 ratio (training set, n=1187; validation set, n=506).
[Sepsis risk calculator-guided antibiotic management in neonates with suspected early-onset sepsis].
Zhongguo Dang Dai Er Ke Za Zhi
June 2021
Objective: To evaluate the efficacy of sepsis risk calculator (SRC) in guiding antibiotic use in neonates with suspected early-onset sepsis (EOS).
Methods: A total of 284 neonates with a gestational age of ≥ 35 weeks were enrolled as the control group, who were hospitalized in the Children's Hospital of Chongqing Medical University from March to July, 2019 and were suspected of EOS. Their clinical data were retrospectively collected and the use of antibiotics was analyzed based on SRC.
[C-reactive protein-guided antibiotic treatment strategy for neonates with suspected early-onset sepsis].
Zhongguo Dang Dai Er Ke Za Zhi
January 2020
Objective: To evaluate the efficacy and safety of C-reactive protein (CRP)-guided antibiotic treatment strategy for neonates with suspected early-onset sepsis (EOS).
Methods: A total of 428 neonates, with a gestational age of >35 weeks, who were admitted to the Children's Hospital of Chongqing Medical University from February to July, 2019 and were suspected of EOS were enrolled as the observation group. The effect of antibiotic treatment was prospectively observed, and if clinical symptoms were improved and CRP was <10 mg/L in two consecutive tests, discontinuation of antibiotics was considered.
[RNA interference targeting human telomerase reverse transcriptase induces HepG2 cell apoptosis].
Zhonghua Gan Zang Bing Za Zhi
January 2006