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The most common inheritance pattern responsible for congenital deafness belongs to autosomal recessive non-syndromic hearing loss (ARNSHL) and mutations of the highly heterogeneous MYO15A locus are present in a large proportion of cases.One Chinese family with ARNSHL was subjected to clinical evaluation and genetic analysis. We used targeted and whole exome sequencing with Sanger sequencing to identify and characterize mutations. Bioinformatics analysis was conducted to evaluate molecular functions.Three compound heterozygous MYO15A gene variants, including two novel variants, c.6804G A (p.M2268I), and c.6188_6190delinsGTCA (p.F2063Cfs*60), responsible for deafness were identified. Pathogenicity was assessed by multiple bioinformatics analyses.We identified novel mutations of the MYO15A locus associated with ARNSHL in a Chinese family. The current findings expand the MYO15A pathogenic mutation spectrum to assist with genetic counseling and prenatal diagnosis.

With the gradual increase of the coal mining depth, the mixing of multiple water sources intensifies and the activity of radium and radon in groundwater increases. Identifying the source of mine water inrush by using radium and radon isotopes is a new choice. In this paper, the mathematical statistics method, radioactive isotope decay theory, the mass conservation principle, and the numerical simulation method are used to analyze the influence of total dissolved solids (TDS), pH, and the hydrochemical ion content in groundwater on the isotope activity of radium, radon, uranium, thorium, and lead. The activity of thorium and lead is lower than the detection limit of the instrument, and the influence of coal mining activities on it is small. The simulation of the radium-radon mass balance in groundwater shows that the greater the adsorption coefficient (k) of solid particles in groundwater is, the more obvious the adsorption effect and the greater the influence on the radium-radon activity balance are. The radium-radon dating method is used to calculate the groundwater age. Results show that the groundwater age in the closed pit coal mining area is generally older than that in the mining coal mining area. Combined with the

Multiple runoff connections for groundwater supply and water quality evolution mechanisms were disclosed using hydrochemistry, multivariate statistics, stable hydrogen and oxygen isotopes, and inverse hydrogeochemical modeling in a multi-layer groundwater system in a north China coal-mining district. Groundwater quality was mainly influenced by dissolution and weathering of carbonate, silicate, gypsum, halite, and fluorite, as well as cation exchange. Sulfate enrichment in the Carboniferous limestone aquifer may be due to pyrite oxidation, while gypsum dissolution and sewage contribute sulfate to the Quaternary alluvium. The Ordovician limestone groundwater is hydraulically connected to the other two aquifers. Incongruent dissolution of dolomite occurs when the Ordovician limestone water contacts the Carboniferous aquifer, while evaporation occurs when the Ordovician limestone water migrates upward through fractures to the Quaternary aquifer.

BackgroundMolecular genetic testing for the 11p15-associated imprinting disorder Beckwith-Wiedemann syndrome(BWS) is challenging because of the molecular heterogeneity and complexity of the affected imprinted regions. An accurate diagnosis of BWS requires a complete molecular method to analyze epigenetic changes.Case presentationWe reported a Chinese case with BWS detected by SNP array analysis and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA). The genetic analysis showed a de nove duplication of 24 Mb at 11p15.5-14.3 is much longer than ever reported. MS-MLPA showed copy number changes with a peak height ratio value of 1.5(three copies) at 11p15. The duplication of paternal origin withincrease of methylation index of 0.68 at H19 and decreased methylation index of 0.37 at KCNQ1OT1.ConclusionCombined chromosome microarray analysis and methylation profiling provided reliable diagnosis for this paternally derived duplication of BWS. The phenotype associated with 11p15 duplications depends on the size, genetic content, parental inheritance and imprinting status. Identification of these rare duplications is crucial for genetic counselling.

Background Molecular genetic testing for the 11p15-associated imprinting disorder Beckwith-Wiedemann syndrome (BWS) is challenging because of the molecular heterogeneity and complexity of the affected imprinted regions. An integrated molecular approach to analyze the epigenetic-genetic alterations is required for accurate diagnosis of BWS. Case presentation: We reported a Chinese case with BWS detected by SNP array analysis and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA). The genetic analysis showed a de novo duplication of 24 Mb at 11p15.5p14.3 is much longer than ever reported. MS-MLPA showed copy number changes with a peak height ratio value of 1.5 (three copies) at 11p15. The duplication of paternal origin with increase of methylation index of 0.68 at H19 and decreased methylation index of 0.37 at KCNQ1OT1. Conclusion Combined chromosome microarray analysis and methylation profiling provided reliable diagnosis for this paternally derived duplication of BWS. The phenotype associated with 11p15 duplications depends on the size, genetic content, parental inheritance and imprinting status. Identification of these rare duplications is crucial for genetic counselling.

Source discrimination of mine water plays an important role in guiding mine water prevention in mine water management. To accurately determine water inrush source from a mine in the Jiaozuo mining area, a Piper trilinear diagram based on hydrochemical experimental data of stratified underground water in the area was utilized to determine typical water samples. Additionally, principal component analysis (PCA) was used for dimensionality reduction of conventional hydrochemical variables, after which mutually independent variables were extracted. The Piper-PCA-Fisher water inrush source recognition model was established by combining the Piper trilinear diagram and Fisher discrimination theory. Screened typical samples were used to conduct back-discriminate verification of the model. Results showed that 28 typical water samples in different aquifers were determined through the Piper trilinear diagram as a water sample set for training. Before PCA was carried out, the first five factors covered 98.92% of the information quantity of the original data and could effectively represent the data information of the original samples. During the one-by-one rediscrimination process of 28 groups of training samples using the Piper-PCA-Fisher water inrush source model, 100% correct discrimination rate was achieved. During the prediction and discrimination process of 13 samples, one water sample was misdiscriminated; hence, the correct prediscrimination rate was 92.3%. Compared with the traditional Fisher water source recognition model, the Piper-PCA-Fisher water source recognition model established in this study had higher accuracy in both rediscrimination and prediscrimination processes. Thus it had a strong ability to discriminate water inrush sources.

The occurrence of mine water inrush constantly threatens the safety production of coal mines and causes serious financial losses in China. Existing water inrush source identification methods do not consider the mixing effect of aquifers and the complexity of discrimination indexes. To identify water inrush rapidly and accurately, an identification model that combines water chemistry and multivariate statistical methods is proposed. The Piper trilinear diagram was used to screen 48 water samples taken from a water inrush aquifer in a mining area. Forty-two typical water samples that represent the water inrush aquifers were obtained. They were selected as training samples with discrimination indexes (Ca2+, Mg2+, Na++K+, HCO3−, SO42−, Cl−). Principal component analysis (PCA) was used to extract three principal indexes. Then, with these indexes taken as factors of Bayesian discrimination, we established a model for determining the source of water bursting in Pingdingshan Mine. Finally, the prejudgment classification stability of the constructed model was evaluated by leave-one-out cross-validation (LOOCV), which reports 95.2% overall classification accuracy. The constructed model was used to obtain a prognosis of 10 samples collected from Pingdingshan Mine, and it reported one misjudgment on one sample. In addition to comparing the prediction results with fuzzy comprehensive evaluation and gray relational degree model, results indicate that the constructed Piper-PCA-Bayes-LOOCV discrimination model of the water inrush source in mines can increase the recognition accuracy effectively, thus guaranteeing the safety production of mines.

Investigations have been undertaken to determine the interactions between the main aquifers in a coal mining area near the Taihang Mountains in China to determine the sources of water. Environmental isotopes (18O, 2H, 3H, 34S) and water chemistry ions (Ca2+, Mg2+, Na+, K+, HCO 3 − , SO 4 2− , Cl−) were used as tracers. Furthermore, batch sampling and testing were conducted on mountain spring water and karst water in the aquifers of the Taiyuan Group, Fengfeng Group, and Majiagou Group on the seatearth of the coal mining area, via field observations and laboratory experimental analysis. The δ18O and δ2H values of the mountain spring water and karst water in the coal mining area showed a common distribution with the local meteoric water line EL1 of karst water in the Majiagou Group but significantly deviated from the surface water evaporation line (EL2) in the coal mining area, when combined with the distribution of karst water level values. Thus, karst water in the coal mining area is mainly supplied by groundwater from mountainous areas. Furthermore, the concentration of sulfate ions increased dramatically in the groundwater flow of karst water from mountain spring water to karst water in the Fengfeng Group and Majiagou Group of the coal mining area. When equivalent concentrations of (Ca2+ + Mg2+)/HCO 3 − and SO 4 2− /HCO 3 − reached their peak, the chemical type of groundwater gradually evolved from Ca–Mg–HCO3 to Ca–Mg–SO4–HCO3. In addition, significant positive correlation was found between the δ34S and SO 4 2− values of the water samples, indicating that gypsum is involved in groundwater lixiviation. In contrast, the relationships of Ca/Na versus Mg/Na, (Na + HCO3) versus total dissolved solids (TDS), and Na+ versus Cl− revealed that TDS and salinity accumulate from the mountain spring water and karst water in the Taiyuan Group of the coal mining area. Furthermore, the chemical type of groundwater gradually evolved from Ca–Mg–HCO3 to Na–HCO3, as revealed by a Piper trilinear diagram.

This paper applies for cluster analysis and factor analysis theory to statistically analyze environmental isotope (δ18O,δ2H, 3H, 14C) and water chemistry (K+, Na+, Ca2+, Mg2+, HCO3, SO42, Cl-) test data from different water bodies in the coal-mining exploring district. The result shows that groundwater can be clustered into four categories, namely GA, GB, GC and GD classes. Deep karst groundwater and spring were grouped into GA class, and the contour map of the second-factor scores shows that karst water and spring of the GA group is in the same area, indicating the same recharging source from the northern mountainous area. Deep fissure water was clustered into GC class with the lowest second-factor scores, and cation exchange plays a central role, then did not detect tritium with 14C of lower levels, indicating the late Pleistocene rainfall recharging. Shallow pore water and surface water were clustered into GB class with the high third factors scores, indicating surface water leakage recharging. The water samples of GD class have the highest three factors score, pointing out that the shallow pore water and surface water were polluted. The results of this study provide a scientific basis for assessing groundwater circulation mechanism in the coal-mining exploring district. Evaluación de las Interacciones entre Agua Super cial y Agua Subterránea a Través del Análisis Multivariante en el Distrito de Exploración Carbonífera en China ResumenEste estudio utiliza la teoría del análisis de grupos y del análisis factorial para examinar estadísticamente la información de pruebas al isótopo ambiental (δ18O, δ2H, 3H, 14C) y a la química del agua (K+, Na+, Ca2+, Mg2+, HCO3-, SO42-, Cl-) en diferentes cuerpos de agua en el distrito de exploración carbonífera. El resultado muestra que el agua subterránea puede ser agrupada en cuatro categorías, nombradas Clase GA, Clase GB, Clase GC y Clase GD. El agua subterránea del karst profundo y el agua de manantial fueron agrupadas en la Clase GA; el mapa topográfico de los marcadores de segundo factor muestra que el agua del karst y el agua de manantial del grupo GA se encuentran en la misma área, lo que indica que tienen la misma fuente de recarga, en la región montañosa al norte del distrito. El agua de las suras profundas fue agrupada en la Clase GC con los marcadores más bajos de segundo factor y donde el intercambio de cationes es determinante; no se detectó tritio con los bajos niveles de 14C, lo que indica una recarga por lluvia en el Pleistoceno tardío. El agua poco profunda y el agua superficial fueron agrupadas en la Clase GB, con los mayores marcadores de tercer factor, lo que indica una recarga por vertido superficial. Las muestras de agua de la Clase GD tienen los mayores marcadores de los tres factores, lo que señala que las aguas poco profundas y las superficiales están contaminadas. Los resultados de este estudio proveen una base científica para la evaluación del mecanismo de circulación del agua subterránea en el distrito de exploración carbonífera.

Investigations in the Jiaozuo coal-mining district (China) aim to link water-inrush aquifers with the sources of groundwater recharge. Concentrations of TDS, HCO3–, Cl– and Na+ in the groundwater samples gradually decrease with increasing depth; in contrast, the factor 1 value of the Q-mode analysis gradually increases, which indicates that the deep groundwater may upflow, recharging the aquifers near the faulted zone. Some groundwater samples (above the local meteoric water line and ‘evaporation line 1’) may originate from recharge by infiltrating local rainfall. Spring and river samples are symmetrically distributed on the regression line of the Ordovician and Carboniferous limestone aquifer groundwater (δ2H = 3.76 × δ18O – 31.77) and may, therefore, originate from groundwater recharge in the northern Taihang mountains. This mechanism is supported by the observation that groundwater levels change with rainfall. According to radiocarbon residence-time estimates, two groundwater sample sites may have been recharged during the late glacial stage.

In order to evaluate test quality, test the effect of teaching and learning, advice for teaching and examination, it is necessary to do normality test statistical analysis of results. 560 results selected in four core subjects to do the normal analysis of,it is showed that the computer culture basis course is right-skewed, unevenly distributed. Therefore, further analysis of the structure of the results .It is showed that usually results of this course scored overall high, and are not relevant to final results The above analysis reflects a deeper problem the final exam results are too much emphasised on, instead of the process of assessment.

In order to achieve success both in learning and teaching, and take to the advantages of both “pass - accept” type and “self – explore” style, the new teaching concepts “meaningful transfer-led explore” were proposed. More importantly, that information technology being integrated into the new teaching concepts can really increase complementary strengths. Advanced information technology not only enriches the teaching media, especially in terms of optimizating instructional design plays a decisive role. The paper also analyzes the role of information technology on process assessment initiated by the new teaching concept and individualized teaching. New teaching concepts according with applying information technologies can be effective and enhance teaching effectiveness.