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  • Online Resource  (8)
  • Frontiers Media SA  (8)
  • Wang, Hua  (8)
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  • Online Resource  (8)
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  • Frontiers Media SA  (8)
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  • 1
    In: Frontiers in Public Health, Frontiers Media SA, Vol. 10 ( 2022-5-9)
    Abstract: To study the burden of neurodevelopmental diseases (NDDs) via cost-of-illness analysis of Chinese patients with genetic diagnosis. Methods We recruited NDD patients (0–18 years old) with genetic diagnosis (GD) from September 1, 2020 to January 30, 2021. We gathered basic information on the details of diagnosis, as well as the direct medical cost, direct non-healthcare cost and indirect cost before and after receiving GD. We corrected the cost for time biases by calculating the cost per day for each patient. Results For the 502 patients with NDDs, the mean age was 4.08 ± 3.47. The household income was 0.6 (0.4, 1.0) 10,000 CNY per-month on average. The direct medical cost, direct non-healthcare cost and indirect cost were 12.27 (7.36, 22.23) 10,000 CNY, 1.45 (0.73, 2.69)10,000 CNY and 14.14(4.80, 28.25) 10,000 CNY per patient, respectively. Every patient received 1.20 (0.34, 3.60) 10,000 CNY on average (15.91%) from insurance. The daily total cost after receiving GD were ~62.48% lower than those before GD (191.59 CNY vs. 71.45 CNY). The descend range of lab cost (95.77%, P & lt; 0.05) was the largest, followed by drugs (91.39%, P & lt; 0.05), hospitalization (90.85%, P & lt; 0.05), and consultation (57.41%, P & lt; 0.05). The cost of rehabilitation kept slightly increasing but there were no significant differences ( P & gt; 0.05). The daily direct medical cost of each patient fell by 75.26% ( P & lt; 0.05) from 311.79 CNY to 77.14 CNY when the diagnostic age was younger than 1, and declined by 49.30% ( P & lt; 0.05) and 8.97% ( P & gt; 0.05) when the diagnostic age was 1–3 and older than 3, respectively. Conclusions Early genetic diagnosis is crucial for to reducing the burden of disease because of the amount of money spent was lower when they are diagnosed at younger age. Patients with NDDs can incur a heavy economic burden, especially in rehabilitation cost and indirect cost, because the insurance coverage for patients is low, so it is urgent for governments to pay more attention to these issues.
    Type of Medium: Online Resource
    ISSN: 2296-2565
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2022
    detail.hit.zdb_id: 2711781-9
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  • 2
    In: Frontiers in Cellular Neuroscience, Frontiers Media SA, Vol. 14 ( 2020-1-24)
    Type of Medium: Online Resource
    ISSN: 1662-5102
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2020
    detail.hit.zdb_id: 2452963-1
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  • 3
    Online Resource
    Online Resource
    Frontiers Media SA ; 2021
    In:  Frontiers in Molecular Neuroscience Vol. 14 ( 2021-12-16)
    In: Frontiers in Molecular Neuroscience, Frontiers Media SA, Vol. 14 ( 2021-12-16)
    Abstract: Background: MN1 C-terminal truncation (MCTT) syndrome is caused by variants in the C-terminal region of MN1 , which were first described in 2020. The clinical features of MCTT syndrome includes severe neurodevelopmental and brain abnormalities. We reported on a patient who carried the MN1 variant in the C-terminal region with mild developmental delay and normal brain magnetic resonance image (MRI). Methods: Detailed clinical information was collected in the pedigree. Whole-exome sequencing (WES) accompanied with Sanger sequencing validation were performed. A functional study based on HEK239T cells was performed. Results: A de novo heterozygous c.3734delT: p.L1245fs variant was detected. HEK239T cells transinfected with the de novo variant showed decreased proliferation, enhanced apoptotic rate, and MN1 nuclear aggregation. Conclusion: Our study expended the clinical and genetic spectrum of MCTT which contributes to the genetic counseling of the MN1 gene.
    Type of Medium: Online Resource
    ISSN: 1662-5099
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2021
    detail.hit.zdb_id: 2452967-9
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  • 4
    Online Resource
    Online Resource
    Frontiers Media SA ; 2021
    In:  Frontiers in Genetics Vol. 12 ( 2021-4-8)
    In: Frontiers in Genetics, Frontiers Media SA, Vol. 12 ( 2021-4-8)
    Abstract: Background: The molybdenum cofactor (Moco) deficiency in humans results in the inactivity of molybdenum-dependent enzymes and is caused by pathogenic variants in MOCS1 ( Molybdenum cofactor synthesis 1 ), MOCS2 ( Molybdenum cofactor synthesis 2 ), and GPHN ( Gephyrin ). These genes along with MOCS3 ( Molybdenum cofactor synthesis 3 ) are involved in Moco biosynthesis and providing cofactors to Moco-dependent enzymes. Until now, there was no study to confirm that MOCS3 is a causative gene of Moco deficiency. Methods: Detailed clinical information was collected in the pedigree. The Whole-exome sequencing (WES) accompanied with Sanger sequencing validation were performed. Results: We described the clinical presentations of an infant, born to a non-consanguineous healthy family, diagnosed as having MOCS3 variants caused Moco deficiency and showing typical features of Moco deficiency including severe neurologic symptoms and cystic encephalomalacia in the brain MRI, resulting in neonatal death. Compound heterozygous variants in the MOCS3 gene were identified by WES. Positive sulfite and decreased levels of uric acid in plasma and urine were detected. Conclusion: To our knowledge, this is the first case of MOCS3 variants causing Moco deficiency. Our study may contribute to genetic diagnosis of Moco deficiency and future genetic counseling.
    Type of Medium: Online Resource
    ISSN: 1664-8021
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2021
    detail.hit.zdb_id: 2606823-0
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  • 5
    In: Frontiers in Molecular Neuroscience, Frontiers Media SA, Vol. 14 ( 2022-1-12)
    Abstract: Objective: To prove microtubule associated serine/threonine kinase 3 ( MAST3 ) gene is associated with neurodevelopmental diseases (NDD) and the genotype-phenotype correlation. Methods: Trio exome sequencing (trio ES) was performed on four NDD trios. Bioinformatic analysis was conducted based on large-scale genome sequencing data and human brain transcriptomic data. Further in vivo zebrafish studies were performed. Results: In our study, we identified four de novo MAST3 variants (NM_015016.1: c.302C & gt; T:p.Ser101Phe; c.311C & gt; T:p.Ser104Leu; c.1543G & gt; A:p.Gly515Ser; and c.1547T & gt; C:p.Leu516Pro) in four patients with developmental and epileptic encephalopathy (DEE) separately. Clinical heterogeneities were observed in patients carrying variants in domain of unknown function (DUF) and serine-threonine kinase (STK) domain separately. Using the published large-scale exome sequencing data, higher CADD scores of missense variants in DUF domain were found in NDD cohort compared with gnomAD database. In addition, we obtained an excess of missense variants in DUF domain when compared autistic spectrum disorder (ASD) cohort with gnomAD database, similarly an excess of missense variants in STK domain when compared DEE cohort with gnomAD database. Based on Brainspan datasets, we showed that MAST3 expression was significantly upregulated in ASD and DEE-related brain regions and was functionally linked with DEE genes. In zebrafish model, abnormal morphology of central nervous system was observed in mast3a/b crispants. Conclusion: Our results support the possibility that MAST3 is a novel gene associated with NDD which could expand the genetic spectrum for NDD. The genotype-phenotype correlation may contribute to future genetic counseling.
    Type of Medium: Online Resource
    ISSN: 1662-5099
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2022
    detail.hit.zdb_id: 2452967-9
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  • 6
    In: Frontiers in Medicine, Frontiers Media SA, Vol. 7 ( 2020-10-8)
    Type of Medium: Online Resource
    ISSN: 2296-858X
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2020
    detail.hit.zdb_id: 2775999-4
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  • 7
    Online Resource
    Online Resource
    Frontiers Media SA ; 2021
    In:  Frontiers in Cell and Developmental Biology Vol. 9 ( 2021-9-1)
    In: Frontiers in Cell and Developmental Biology, Frontiers Media SA, Vol. 9 ( 2021-9-1)
    Abstract: Prostate cancer (PCa) represents one of the most prevalent types of cancers and is a large health burden for men. The pathogenic mechanisms of PCa still need further investigation. The aim of this study was to construct an effective signature to predict the prognosis of PCa patients and identify the biofunctions of signature-related genes. First, we screened differentially expressed genes (DEGs) between PCa and normal control tissues in The Cancer Genome Atlas (TCGA) and GSE46602 datasets, and we performed weighted gene co-expression network analysis (WGCNA) to determine gene modules correlated with tumors. In total, 124 differentially co-expressed genes were retained. Additionally, five genes (ARHGEF38, NETO2, PRSS21, GOLM1, and SAPCD2) were identified to develop the prognostic signature based on TCGA dataset. The five-gene risk score was verified as an independent prognostic indicator through multivariate Cox regression analyses. The expression of the five genes involved in the signature was detected in the Gene Expression Omnibus (GEO), Gene Expression Profiling Interactive Analysis (GEPIA), and Oncomine databases. In addition, we utilized DiseaseMeth 2.0 and MEXPRESS for further analysis and found that abnormal methylation patterns may be a potential mechanism for these five DEGs in PCa. Finally, we observed that these genes, except PRSS21, were highly expressed in tumor samples and PCa cells. Functional experiments revealed that silencing ARHGEF38, NETO2, GOLM1, and SAPCD2 suppressed the proliferation, migration, and invasiveness of PCa cells. In summary, this prognostic signature had significant clinical significance for treatment planning and prognostic evaluation of patients with PCa. Thus, ARHGEF38, NETO2, GOLM1, and SAPCD2 may serve as oncogenes in PCa.
    Type of Medium: Online Resource
    ISSN: 2296-634X
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2021
    detail.hit.zdb_id: 2737824-X
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  • 8
    Online Resource
    Online Resource
    Frontiers Media SA ; 2022
    In:  Frontiers in Psychology Vol. 13 ( 2022-8-29)
    In: Frontiers in Psychology, Frontiers Media SA, Vol. 13 ( 2022-8-29)
    Abstract: Gender plays an important role in various aspects of second language acquisition, including lexicon learning. Many studies have suggested that compared to males, females are less likely to experience boredom, one of the frequently experienced deactivating negative emotions that may impair language learning. However, the contribution of boredom to gender-related differences in lexicon learning remains unclear. To address this question, here we conducted two experiments with a large sample of over 1,000 college students to explore the relationships between gender differences in boredom and lexicon learning. In Experiment 1, a cohort of 527 participants (238 males) completed the trait and state boredom scales as well as a novel lexicon learning task without awareness of the testing process. In Experiment 2, an independent cohort of 506 participants (228 males) completed the same novel lexicon learning task with prior knowledge of the testing procedure. Results from both experiments consistently showed significant differences between female and male participants in the rate of forgetting words and the state boredom scores, with female participants performing better than male participants. Furthermore, differences in state boredom scores partially explained differences in the rate of forgetting words between female and male participants. These findings demonstrate a novel contribution of state boredom to gender differences in lexicon learning, which provides new insights into better language-learning ability in females.
    Type of Medium: Online Resource
    ISSN: 1664-1078
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2022
    detail.hit.zdb_id: 2563826-9
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