Whole-Exome Sequencing Reveals Mutational Signature of Hypertrophic Cardiomyopathy.

Background: Hypertrophic cardiomyopathy (HCM) is an extremely insidious and lethal disease caused by genetic variation. It has been studied for nearly 70 years since its discovery, but its cause of the disease remains a mystery. This study is aimed to explore the genetic pathogenesis of HCM in order to provide new insight for the diagnosis and treatment of HCM. Methods: Patients with HCM at 4 hospitals from January 1, 2020, to December 31, 2021, were collected. Peripheral blood of these patients was collected for whole exome sequencing. Moreover, data on the HCM transcriptome were analyzed in the GEO database. Results: Totally, 14 patients were enrolled, and 6 single-nucleotide variation (SNV) mutant genes represented by MUC12 were observed. Most of the gene mutations in HCM patients were synonymous and non-synonymous, and the types of base mutations were mainly C > T and G > A. Copy number variants (CNVs) predominantly occurred on chromosome 1 in HCM patients. Furthermore, we found that the only ATP2A2 gene was differentially expressed in 3 groups of transcriptome data in GEO database, and the presence of ATP2A2 mutation in 10 samples was observed in this study. Conclusion: In summary, 7 mutated genes represented by MUC12 and ATP2A2 were found in this study, which may provide novel insights into the pathogenic mechanism of HCM.

Uncovering potential single nucleotide polymorphisms, copy number variations and related signaling pathways in primary Sjogren's syndrome.

Primary Sjogren's syndrome (pSS) is a complex systemic autoimmune disease, which is difficult to accurately diagnose due to symptom diversity in patients, especially at earlier stages. We tried to find potential single nucleotide polymorphisms (SNPs), copy number variations (CNVs) and related signaling pathways. Genomic DNA was extracted from peripheral blood of 12 individuals (7 individuals from 3 pSS pedigrees and 5 sporadic cases) for whole-exome sequencing (WES) analysis. SNPs and CNVs were identified, followed by functional annotation of genes with SNPs and CNVs. Gene expression profile (involving 64 normal controls and 166 cases) was downloaded from the Gene Expression Omnibus database (GEO) dataset for differentially expression analysis. Sanger sequencing and in vitro validation was used to validate the identified SNPs and differentially expressed genes, respectively. A total of 5 SNPs were identified in both pedigrees and sporadic cases, such as FES, PPM1J, and TRAPPC9. A total of 3402 and 19 CNVs were identified in pedigrees and sporadic cases, respectively. Fifty-one differentially expressed genes were associated with immunity, such as BATF3, LAP3, BATF2, PARP9, and IL15RA. AMPK signaling pathway and cell adhesion molecules (CAMs) were the most significantly enriched signaling pathways of identified SNPs. Identified CNVs were associated with systemic lupus erythematosus, mineral absorption, and HTLV-I infection. IL2-STAT5 signaling, interferon-gamma response, and interferon-alpha response were significantly enriched immune related signaling pathways of identified differentially expressed genes. In conclusion, our study found some potential SNPs, CNVs, and related signaling pathways, which could be useful in understanding the pathological mechanism of pSS.

Water quality assessment and source identification of Daliao River Basin using multivariate statistical methods.

Multivariate statistical methods, such as cluster analysis (CA), discriminant analysis (DA) and principal component analysis (PCA), were used to analyze the water quality dataset including 13 parameters at 18 sites of the Daliao River Basin from 2003-2005 (8424 observations) to obtain temporal and spatial variations and to identify potential pollution sources. Using Hierarchical CA it is classified 12 months into three periods (first, second and third period) and the 18 sampling sites into three groups (groups A, B and C). Six significant parameters (temperature, pH, DO, BOD(5), volatile phenol and E. coli) were identified by DA for distinguishing temporal or spatial groups, with close to 84.5% correct assignment for temporal variation analysis, while five parameters (DO, NH(4)(+)-N, Hg, volatile phenol and E. coli) were discovered to correctly assign about 73.61% for the spatial variation analysis. PCA is useful in identifying five latent pollution sources for group B and C (oxygen consuming organic pollution, toxic organic pollution, heavy metal pollution, fecal pollution and oil pollution). During the first period, sites received more oxygen consuming organic pollution, toxic organic pollution and heavy metal pollution than those in the other two periods. For group B, sites were mainly affected by oxygen consuming organic pollution and toxic organic pollution during the first period. The level of pollution in the second period was between the other two periods. For group C, sites were mainly affected by oil pollution during the first period and oxygen consuming organic pollution during the third period. Furthermore, source identification of each period for group B and group C provided useful information about seasonal pollution. Sites were mainly affected by fecal pollution in the third period for group B, indicating the character of non-point source pollution. In addition, all the sites were also affected by physical-chemistry pollution. In the second and third period for group B and second period for group C sites were also affected by natural pollution.

Methodology to determine regional water demand for instream flow and its application in the Yellow River Basin.

In order to realistically reflect the difference between regional water demand for instream flow and river ecological water demand as well as to resolve the problem that water demand may be counted repeatedly, a concept of regional water demand for minimum instream flow have been developed. The concept was used in the process of determining river functions and calculating ecological water demand for a river. The Yellow River watershed was used to validate the calculation methodology for regional water demand. Calculation results indicate that there are significant differences in water demands among the different regions. The regional water demand at the downstream of the Yellow River is the largest about 14.893 X 10(9) m(3)/a. The regional water demand of upstream, Lanzhou-Hekou section is the smallest about -5.012 x 10(9) m(3)/a. The total ecological water demand of the Yellow River Basin is 23.06 X 10(9) m(3)/a, about the 39% of surface water resources of the Yellow River Basin. That means the maximum available surface water resources should not exceed 61% in the Yellow River Basin. The regional river ecological water demands at the Lower Section of the Yellow River and Longyangxia-Lanzhou Section exceed the surface water resources produced in its region and need to be supplemented from other regions through the water rational planning of watershed water resources. These results provides technical basis for rational plan of water resources of the Yellow River Basin.

[Adsorption characteristics of acetone and butanone onto honeycomb ZSM-5 molecular sieve].

Adsorption capacity of acetone and acetone-butanone mixture onto honeycomb ZSM-5 molecular sieve was measured in this paper, and the influences of relative humidity, initial adsorbate concentration and airflow velocity on the adsorption process were investigated. Besides, adsorption performance parameters were calculated by Wheeler's equation. The results showed that relative humidity had no obvious influence on the acetone adsorption performance, which suggests that this material has good hydrophobic ability; in the low concentration range, the dynamic saturated adsorption capacity of acetone increased with the increase of initial concentration, but in the occasion of high concentration of acetone gas (more than 9 mg x L(-1)), the dynamic saturated adsorption capacity maintained at a certain level and did not vary with the increase of initial concentration; the increase of air flow velocity resulted in significant increase of acetone adsorption rate constant, at the same time the critical layer thickness of the adsorbent bed also increased significantly. In the cases of acetone-butanone mixture, the adsorption capacity of butanone onto ZSM-5 was clearly higher than that of acetone.

[Evaluation of treatment technology of volatile organic compounds for fixed industrial resources].

The reduction of the emission of volatile organic compounds (VOCs) from fixed industrial resources is considered more necessary than before. The traditional treatment techniques, newly developed ones and some combinations of these treatment techniques are reviewed in this paper. The applying conditions, developing trend and existing problems of these techniques are also evaluated.

[Regulations and policies for control of volatile organic compounds and the emission standards in Taiwan].

Due to the well-developed managing system including policies, laws, regulations and emission standards, now the emission of volatile organic compounds (VOCs) is strictly controlled in Taiwai. The policy frameworks of VOCs control including both command control and economic incentives makes an excellent effect for VOCs treatment.

[Preparation of honeycombed monolithic zeolite and hydrophobic modification with SiCl4].

A kind of hydrophobic zeolitic monolith were prepared by mixing HY/ZSM-5, additives and water, followed by processes of extrusion and drying, and then hydrophobic modification with SiCl4. The structures and properties of the adsorbent were examined by nitrogen adsorption and desorption measurement, XRD, and benzene adsorption experiment. The results show that those adsorbents possess hierarchical pore structures and excellent hydrophobicity.