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Runoff forecasting is crucial for planning and managing water resources. As hydrological data becomes more available, more data-driven models are being employed to enhance the effectiveness of runoff forecasting. To accurately and quantitatively assess the whole runoff forecast process, from model construction to application, a whole life cycle forecasting evaluation index system was established in this study to evaluate the data, factors, sample integrity, model construction, and forecast result. The analysis included quantitative evaluation criteria to comprehensively consider data quality, forecasting factor characterization, sample representativeness, model generalization, and result quality. An evaluation of forecast results from 7 river basins and their 85 hydrological stations in China showed that the proposed index system could accurately reflect the performance of the forecasting process. The overall performance of the forecasting model and process can be evaluated quantitatively based on the Euclidean distance, and the pathways to improve the forecasting effectiveness of the model can be identified based on the evaluation results. The validity of the proposed index is also experimentally demonstrated. The proposed index system can be applied to the evaluation of data-driven forecasting processes in various fields. [ABSTRACT FROM AUTHOR]

Background. Parkinson's disease (PD) is a neurodegenerative disease, a hallmark by the formation of misfolded and aggregated α-synuclein proteins. The expression of potential microRNA (miRNA) candidates isolated from serum and cerebrospinal fluid (CSF) exosomes of PD patients was assessed for their diagnostic value and their potential role as biomarkers for PD was explored. In this study, we characterize the expression level of miRNAs in the exosomes of blood sera and cerebrospinal fluid and explore their potential role as biomarkers for PD. Materials and Methods. A total of 209 patients having an onset of PD, along with 60 neurodegenerative (ND) disorders and 50 healthy controls were enrolled. Blood samples and CSF samples were collected and exosomes were isolated. The isolated exosomes were characterized using CD63 detection and exosomal RNA was extracted. Serum miRNA profiling was carried out by synthesizing cDNA from the purified RNA and miRNA transcripts were determined by qRT-PCR using SYBR Green PremixScript. microRNA profiling strategy was employed for extracting the exosomal miRNAs from the exosomes. Results. Five common miRNAs viz. miR-151a-5p, miR-24, mir-485-5p, mir-331-5p, and mir-214 were found to be upregulated with statistical significance in both the serum exosome and CSF exosomes. The investigation revealed that serum and CSF exosomal miRNA molecules are definitive biomarkers for PD with proper specificity and sensitivity. Conclusions. The significant level of miR-151a-5p, miR-24, mir-485-5p, mir-331-5p, and mir-214 was observed in the serum and CSF which may be established as a biomarker for the diagnosis of PD. [ABSTRACT FROM AUTHOR]

Background: Polyglucosan body myopathy 1 (PGBM1) is a type of glycogen storage disease that can cause skeletal muscle myopathy and cardiomyopathy with or without immunodeficiency due to a pathogenic mutation in the RBCK1 gene. PGBM1 has been reported in only 14 European and American families, and no cognitive impairment phenotype was reported. Its prevalence in Asia is unknown.Case Presentation: We report a Chinese boy with teenage onset of skeletal muscle myopathy and mild cognitive impairment. Whole-exome sequencing analysis identified a homozygous missense mutation in RBCK1 (c.1411G > A:p.Glu471Lys). A muscle biopsy indicated the accumulation of periodic acid-Schiff-positive material, which could be ubiquitinated by immunohistochemistry with an anti-ubiquitin antibody. In skeletal muscle tissue, HOIL-1 and HOIP protein levels were lower than those in the control, confirming the phenotype of an RBCK1 mutation. MRI revealed abnormal cerebral white matter signals. Immune system and cardiac examination found no abnormalities. The patient was diagnosed with PGBM1 with no effective treatment.Conclusions: This case from China with a novel homozygous missense mutation in RBCK1 extends the phenotypic spectrum and geographical distribution of PGBM 1, which may cause cerebral white matter changes and cognitive impairment. [ABSTRACT FROM AUTHOR]

Objective: Osteonecrosis of the femoral head (ONFH) is a severe pathological state with multiple etiologies. Steroid hormone metabolism-related genes play an important role in ONFH. The aim of this study was to investigate the relationships between polymorphisms of the drug-metabolizing enzyme gene, cytochrome P450 ( CYP450 ), and the drug transporter gene, ATP-binding cassette subfamily B member 1 ( ABCB1 ), as well as their DNA methylation status with the pathogenesis of steroid-induced ONFH. Methods: In this case-control study, we evaluated five single nucleotide polymorphisms (SNPs) in two genes in a Han Chinese population, including 79 patients with steroid-induced ONFH and 114 persons who took steroids but did not develop steroid-induced ONFH. SNPs were genotyped by the improved multiplex ligation detection reaction. MethylTarget technology was used to ascertain the methylation status at two CpG islands in the ABCB1 gene for statistical analysis. Finally, interactions between the SNPs and the CpG site's methylation levels were statistically analyzed by methylation quantitative trait locus. Results: We found that the T allele of the CYP450 rs2242480 locus was associated with steroid-induced ONFH risk reduction (odds ratio [OR] = 0.598, 95% confidence interval [CI]: 0.360-0.992, p  = 0.046). In the genetic model analysis, the T allele of the rs2032582 locus in the ABCB1 gene was associated with a reduced risk of steroid-induced ONFH under the dominant model (OR = 0.465, 95% CI: 0.223-0.972, p  = 0.042). The CpG sites with significant differences ( p  < 0.05) in methylation levels between the cases and controls were ABCB1&#95;1&#95;192…ABCB1&#95;2&#95;43 . A total of 14 pairs of linear regression tests between SNPs and methylation sites demonstrated statistical significance ( p  < 0.05). Conclusions: This study provides evidence for two steroid-induced ONFH susceptibility genes ( ABCB1 , CYP450 ) in the Han Chinese population.