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1.
BMC Public Health ; 20(1): 406, 2020 Mar 29.
Artigo em Inglês | MEDLINE | ID: mdl-32223743

RESUMO

BACKGROUND: Hypertension is highly prevalent and is the primary risk factor for cardiovascular disease (CVD) and chronic kidney disease (CKD). While declining in some developed countries, it is increasing rapidly in some developing countries. Sichuan province is the largest and underdeveloped region in southwest China, with 486 thousand square kilometers, more than 80 million residents, unbalanced economic development, and high prevalence, low awareness, low treatment and low control rate of hypertension. We forecasted the death burden due to high systolic blood pressure (SBP) in Sichuan from 1990 to 2030, to raise the awareness of public and government of the importance and benefits of hypertension control. METHODS: We conducted secondary analysis based on data of Global Burden of Disease (GBD) 1990-2015, and predicted the population SBP level, population attributable fraction, and death burden for people aged 30-69 under different scenarios in 2030. RESULTS: Comparing with natural trend, if the prevalence of high SBP can be reduced relatively by 25% by 2030, the deaths of non-communicable chronic diseases (NCDs), CVD and CKD would be reduced by 27.1 thousand, 26.2 thousand and 0.8 thousand for people aged 30-69; the mortality would be reduced by 10.8, 32.8 and 16.0%; and the premature mortality would be reduced by 9.9, 32.0 and 16.0%, respectively. CONCLUSIONS: Controlling or decreasing the prevalence of high SBP can significantly reduce the deaths, death rate and premature mortality of NCDs, CVD and CKD for the 30-69 years old population in Sichuan. There would be huge benefits for the governments to take cost-effective measures to control or reduce the prevalence of hypertension.

2.
Nanoscale ; 2020 Apr 03.
Artigo em Inglês | MEDLINE | ID: mdl-32242594

RESUMO

With advantages of high theoretical capacity and low cost, manganese sulfide (MnS) has become a potential electrode material for sodium-ion batteries (SIBs). However, complicated preparations and limited cycle life still hinder its application. Inspired by cream rolls in our daily life, a MnS/N,S-co-doped carbon tube (MnS/NSCT) composite with a 3D cross-linked tubular structure is prepared via an ultra-simple and low-cost method in this work. As the anode for SIBs, the cream roll-like MnS/NSCT composite has delivered the best electrochemical performance to date (the highest capacity of 550.6 mA h g-1 at 100 mA g-1, the highest capacity of 447.0 mA h g-1 after 1400 cycles at 1000 mA g-1, and the best rate performance of 319.8 mA h g-1 at 10 000 mA g-1). Besides, according to several in situ and ex situ techniques, the sodium storage mechanism of MnS/NSCTs is mainly from a conversion reaction, and the superior electrochemical performance of MnS/NSCTs is mainly attributed to the unique cream roll-like structure. More importantly, this simple method may be feasible for other anode materials, which will greatly promote the development of SIBs.

3.
Artigo em Inglês | MEDLINE | ID: mdl-32163573

RESUMO

BACKGROUND: Observational studies have shown a link between elevated body mass index (BMI) and the risk of polycystic ovary syndrome (PCOS). While Mendelian randomization (MR) studies in Europeans have suggested a causal role of increased BMI in PCOS, whether the same role is suggested in Asians has yet to be investigated. We used MR studies to infer causal effects using genetic data from East Asian populations. METHODS AND FINDINGS: We performed a two-sample bidirectional MR using summary statistics from genome-wide association studies (GWAS) of BMI (with up to 173,430 individuals) and PCOS (4,386 cases and 8,017 controls) in East Asian populations. Seventy-eight single nucleotide polymorphisms (SNPs) correlated with BMI were selected as genetic instrumental variables to estimate the causal effect of BMI on PCOS using the inverse-variance weighted (IVW) method. To test the reliability of the results, further sensitivity analyses included MR-Egger regression, weighted median estimates, and leave-one-out analysis. The IVW analysis indicated a significant association between high BMI and the risk of PCOS (odds ratio (OR) per-SD higher BMI, 2.208; 95% Confidence interval (CI) 1.537 to 3.168, P=1.77×10-5). In contrast, the genetic risk of PCOS had no significant effect on BMI. CONCLUSIONS: The results of our bidirectional MR study showed that an increase in BMI causes PCOS, while PCOS does not cause an increased BMI. This study provides further genetic support for a link between BMI and PCOS. Further research is needed to interpret the potential mechanisms of this association.

4.
Chem Commun (Camb) ; 2020 Mar 20.
Artigo em Inglês | MEDLINE | ID: mdl-32195500

RESUMO

A post-synthetic transmetallation self-assembly strategy was developed for the preparation of near infrared (NIR) emitting Yb8L6 cubes, which could not be synthesized through direct metal-ligand assembly procedures. Metal-adaptive critical structural transformations from La6L3 triangular prism to Ln8L6 cubes were observed along the lanthanide series, the latter of which showed size-selective guest binding behaviour toward poly-aromatic hydrocarbon (PAH) molecules.

5.
Chem Commun (Camb) ; 2020 Mar 20.
Artigo em Inglês | MEDLINE | ID: mdl-32195504

RESUMO

We described a novel approach for the C-H functionalization of 2,2'-bipyridine derivatives with alkynes. DFT calculations and experimental data showed a significant substituent effect at the 6-position of 2,2'-bipyridine, which weakened the adjacent N-Rh bond and provided the possibility of subsequent rollover cyclometalation, C-H activation, and functionalization.

6.
EMBO J ; : e103111, 2020 Mar 18.
Artigo em Inglês | MEDLINE | ID: mdl-32187724

RESUMO

The homeostatic link between oxidative stress and autophagy plays an important role in cellular responses to a wide variety of physiological and pathological conditions. However, the regulatory pathway and outcomes remain incompletely understood. Here, we show that reactive oxygen species (ROS) function as signaling molecules that regulate autophagy through ataxia-telangiectasia mutated (ATM) and cell cycle checkpoint kinase 2 (CHK2), a DNA damage response (DDR) pathway activated during metabolic and hypoxic stress. We report that CHK2 binds to and phosphorylates Beclin 1 at Ser90/Ser93, thereby impairing Beclin 1-Bcl-2 autophagy-regulatory complex formation in a ROS-dependent fashion. We further demonstrate that CHK2-mediated autophagy has an unexpected role in reducing ROS levels via the removal of damaged mitochondria, which is required for cell survival under stress conditions. Finally, CHK2-/- mice display aggravated infarct phenotypes and reduced Beclin 1 p-Ser90/Ser93 in a cerebral stroke model, suggesting an in vivo role of CHK2-induced autophagy in cell survival. Taken together, these results indicate that the ROS-ATM-CHK2-Beclin 1-autophagy axis serves as a physiological adaptation pathway that protects cells exposed to pathological conditions from stress-induced tissue damage.

7.
J Cell Biochem ; 2020 Mar 11.
Artigo em Inglês | MEDLINE | ID: mdl-32162364

RESUMO

The Iroquois homeobox gene 5 (IRX5), one of the members of the Iroquois homeobox family, has been identified to correlate with worse prognosis in many cancers, including colorectal cancer (CRC). In this study, upregulation of IRX5 revealed a great reduction in the proliferation of CRC colorectal cancer cell line SW480 and DLD-1, which was accompanied by G1/S arrest, increased expression in cyclin E1, P21, and P53 and a decrease in cyclin A2, B1, and D1. Furthermore, IRX5-mediated an increase expression of RH2A protein, the biomarker of DNA damage. Consequently, the SA-ß-gal level is higher in IRX5-overexpression cells compared to control ones, which showed elevated DNA damage triggered cellular senescence. Recapitulating the above findings, IRX5 exhibited higher levels of genomic instability. IRX5 may be a perspective target for cancer therapy and it deserves further investigation.

8.
World J Biol Psychiatry ; : 1-7, 2020 Mar 23.
Artigo em Inglês | MEDLINE | ID: mdl-32129128

RESUMO

Objectives: Chromosome 8p12 was first identified as a schizophrenia (SCZ) risk locus in Chinese populations and replicated in European populations. However, the underlying functional variants still need to be further explored. In this study, we sought to identify plausible causal variants within this locus.Methods: A total of 386 potentially functional variants from 29 genes within the 8p12 locus were analysed in 2403 SCZ cases and 2594 control subjects in the Han Chinese population using Affymetrix customised genotyping assays. SHEsisplus was used for association analysis. A multiple testing corrected p value (false discovery rate (FDR)) < .05 was considered significant, and an unadjusted p value < .05 was considered nominal evidence of an association.Results: We did not find significant associations between the tested variants and SCZ. However, nominal associations were found for rs201292574 (unadjusted p = .033, FDR p = .571; 95% confidence interval (CI): 0.265-0.945; TACC1, NP_006274.2:p.Ala211Thr) and rs45563241 (unadjusted p = .039, FDR p = .571; 95% CI: 1.023-1.866; a synonymous mutation in ADRB3).Conclusions: Our results provide limited evidence for the associations between variants from protein coding regions in 8p12 and SCZ in the Chinese population. Analyses of both coding and regulatory variants in larger sample sizes are required to further clarify the causal variants for SCZ with this risk locus.

9.
Artigo em Inglês | MEDLINE | ID: mdl-32220847

RESUMO

Drought is among the most destructive abiotic stresses limiting crop growth and yield worldwide. Although most research has focused on the contribution of plant-associated microbial communities to plant growth and disease suppression, far less is known about the microbes involved in drought resistance among desert plants. In the present study, we applied 16S rRNA gene amplicon sequencing to determine the structure of rhizosphere and root endosphere microbiomes of Alhagi sparsifolia. Compared to those of the rhizosphere, endosphere microbiomes had lower diversity but contained several taxa with higher relative abundance; many of these taxa were also present in the roots of other desert plants. We isolated a Pseudomonas strain (LTGT-11-2Z) that was prevalent in root endosphere microbiomes of A. sparsifolia and promoted drought resistance during incubation with wheat. Complete genome sequencing of LTGT-11-2Z revealed 1-aminocyclopropane-1-carboxylate deaminases, siderophore, spermidine, and colanic acid biosynthetic genes, and type VI secretion system genes, which are likely involved in biofilm formation and plant-microbe interactions. Together, these results indicate that drought-enduring plants harbor bacterial endophytes favorable to plant drought resistance, and suggest that novel endophytic bacterial taxa and gene resources may be discovered among these desert plants.Importance Understanding microbe-mediated plant resistance to drought is important for sustainable agriculture. We performed 16S rRNA gene amplicon sequencing and culture-dependent functional analyses of Alhagi sparsifolia rhizosphere and root endosphere microbiomes, and identified key endophytic bacterial taxa and their genes facilitating drought resistance in wheat. This study improves our understanding of plant drought resistance and provides new avenues for drought resistance improvement in crop plants under field conditions.

10.
Proc Natl Acad Sci U S A ; 117(11): 6092-6102, 2020 Mar 17.
Artigo em Inglês | MEDLINE | ID: mdl-32127472

RESUMO

The KLHL14 gene acquires frequent inactivating mutations in mature B cell malignancies, especially in the MYD88L265P, CD79B mutant (MCD) genetic subtype of diffuse large B cell lymphoma (DLBCL), which relies on B cell receptor (BCR) signaling for survival. However, the pathogenic role of KLHL14 in DLBCL and its molecular function are largely unknown. Here, we report that KLHL14 is in close proximity to the BCR in the endoplasmic reticulum of MCD cell line models and promotes the turnover of immature glycoforms of BCR subunits, reducing total cellular BCR levels. Loss of KLHL14 confers relative resistance to the Bruton tyrosine kinase (BTK) inhibitor ibrutinib and promotes assembly of the MYD88-TLR9-BCR (My-T-BCR) supercomplex, which initiates prosurvival NF-κB activation. Consequently, KLHL14 inactivation allows MCD cells to maintain NF-κB signaling in the presence of ibrutinib. These findings reinforce the central role of My-T-BCR-dependent NF-κB signaling in MCD DLBCL and suggest that the genetic status of KLHL14 should be considered in clinical trials testing inhibitors of BTK and BCR signaling mediators in DLBCL.

11.
Hereditas ; 157(1): 8, 2020 Mar 16.
Artigo em Inglês | MEDLINE | ID: mdl-32172688

RESUMO

BACKGROUND: Short tandem repeats (STRs) are important polymorphism makers for human identification and kinship analyses in forensic science. With the continuous development of massively parallel sequencing (MPS), more laboratories have utilized this technology for forensic applications. Existing STR genotyping tools, mostly developed for whole-genome sequencing data, are not effective for MPS data. More importantly, their backward compatibility with the conventional capillary electrophoresis (CE) technology has not been evaluated and guaranteed. RESULTS: In this study, we developed a new end-to-end pipeline called STRsearch for STR-MPS data analysis. The STRsearch can not only determine the allele by counting repeat patterns and INDELs that are actually in the STR region, but it also translates MPS results into standard STR nomenclature (numbers and letters). We evaluated the performance of STRsearch in two forensic sequencing datasets, and the concordance with CE genotypes was 75.73 and 75.75%, increasing 12.32 and 9.05% than the existing tool named STRScan, respectively. Additionally, we trained a base classifier using sequence properties and used it to predict the probability of correct genotyping at a given locus, resulting in the highest accuracy of 96.13%. CONCLUSIONS: All these results demonstrated that STRsearch was a better tool to protect the backward compatibility with CE for the targeted STR profiling in MPS data. STRsearch is available as open-source software at https://github.com/AnJingwd/STRsearch.

12.
Nat Commun ; 11(1): 1141, 2020 Feb 28.
Artigo em Inglês | MEDLINE | ID: mdl-32111827

RESUMO

Osteosarcoma, an aggressive malignant cancer, has a high lung metastasis rate and lacks therapeutic target. Here, we reported that chromobox homolog 4 (CBX4) was overexpressed in osteosarcoma cell lines and tissues. CBX4 promoted metastasis by transcriptionally up-regulating Runx2 via the recruitment of GCN5 to the Runx2 promoter. The phosphorylation of CBX4 at T437 by casein kinase 1α (CK1α) facilitated its ubiquitination at both K178 and K280 and subsequent degradation by CHIP, and this phosphorylation of CBX4 could be reduced by TNFα. Consistently, CK1α suppressed cell migration and invasion through inhibition of CBX4. There was a reverse correlation between CK1α and CBX4 in osteosarcoma tissues, and CK1α was a valuable marker to predict clinical outcomes in osteosarcoma patients with metastasis. Pyrvinium pamoate (PP) as a selective activator of CK1α could inhibit osteosarcoma metastasis via the CK1α/CBX4 axis. Our findings indicate that targeting the CK1α/CBX4 axis may benefit osteosarcoma patients with metastasis.

13.
Adv Mater ; : e2000338, 2020 Mar 05.
Artigo em Inglês | MEDLINE | ID: mdl-32141139

RESUMO

The newly emerged aqueous Zn-organic batteries are attracting extensive attention as a promising candidate for energy storage. However, most of them suffer from the unstable and/or soluble nature of organic molecules, showing limited cycle life (≤3000 cycles) that is far away from the requirement (10 000 cycles) for grid-scale energy storage. Here, a new aqueous zinc battery is proposed by using sulfur heterocyclic quinone dibenzo[b,i]thianthrene-5,7,12,14-tetraone (DTT) as the cathode. The cell shows a high reversible capacity of 210.9 mAh gDTT -1 at 50 mA gDTT -1 with a high mass loading of 5 mgDTT cm-2 , along with a fast kinetics for charge storage. Electrochemical measurements, ex situ analyses, and density functional theory calculation successfully demonstrate that the DTT electrode can simultaneously store both protons (H+ ) and Zn2+ to form DTT2 (H+ )4 (Zn2+ ), where Zn2+ is bound to the carboxyl groups from the adjacent DTT molecules with improved stability. Benefitting from the improved molecular stability and the inherent low solubility of DTT and related discharge products, the DTT//Zn full cell exhibits a superlong life of 23 000 cycles with a capacity retention of 83.8%, which is much superior to previous reports.

14.
Mol Carcinog ; 59(5): 478-491, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32141150

RESUMO

To perform a comprehensive genomic analysis of colorectal cancer (CRC) tumor to detect genetic variants and identify novel resistant mutations associated with cetuximab-resistance in CRC patients. A retrospective study was performed using whole exome sequencing (WES) to identify common genetic factors from 22 cetuximab-sensitive and 10 cetuximab-resistant patients. In all 10 cetuximab-resistant patients, we discovered there are 37 significantly mutated genes (SMGs). CYP4A11 was the most frequently mutated gene in cetuximab-resistant patients. BCAS1 and GOLGA6L1 were found to be among the second group of frequently mutated genes with a frequency of 60%. After cosine similarity analysis, three mutational signatures (signature a, b, and c) were found in all CRC tumors, similar to signature 1, 5, and 6 in COSMIC, respectively. Gene ontology analysis was performed on SMGs and found 12 enriched GO terms. Four genes are enriched in six specific Kyoto Encyclopedia of Genes and Genomes pathway groups, including the metabolism of xenobiotics by cytochrome P450, steroid hormone biosynthesis, retinol metabolism, and drug metabolism. Our data supports a network composed of SMGs and cellular signaling pathways that have been positively linked to the mechanisms of cetuximab resistance. These involve DNA damage repair, angiogenesis, invasion, drug metabolism, and the CRC tumor microenvironment. There is a SMG, OR9G1 correlated with survival rates of KRAS wild-type colon adenocarcinoma patients. These findings support further investigation using WES in a prospective clinical study of cetuximab resistance CRC, to further identify, confirm, and extend the clinical significance of these and other potentially important new candidate predictive biomarkers of cetuximab response.

15.
Int J Mol Sci ; 21(3)2020 Feb 02.
Artigo em Inglês | MEDLINE | ID: mdl-32024233

RESUMO

Because of the rapid development of multidrug resistance, conventional antibiotics cannot kill pathogenic bacteria efficiently. New antibiotic treatments such as antimicrobial peptides (AMPs) can provide a possible solution to the antibiotic-resistance crisis. However, the identification of AMPs using experimental methods is expensive and time-consuming. Meanwhile, few studies use amino acid compositions (AACs) and physicochemical properties with different sequence lengths against different organisms to predict AMPs. Therefore, the major purpose of this study is to identify AMPs on seven categories of organisms, including amphibians, humans, fish, insects, plants, bacteria, and mammals. According to the one-rule attribute evaluation, the selected features were used to construct the predictive models based on the random forest algorithm. Compared to the accuracies of iAMP-2L (a web-server for identifying AMPs and their functional types), ADAM (a database of AMP), and MLAMP (a multi-label AMP classifier), the proposed method yielded higher than 92% in predicting AMPs on each category. Additionally, the sensitivities of the proposed models in the prediction of AMPs of seven organisms were higher than that of all other tools. Furthermore, several physicochemical properties (charge, hydrophobicity, polarity, polarizability, secondary structure, normalized van der Waals volume, and solvent accessibility) of AMPs were investigated according to their sequence lengths. As a result, the proposed method is a practical means to complement the existing tools in the characterization and identification of AMPs in different organisms.

16.
Mol Psychiatry ; 2020 Feb 03.
Artigo em Inglês | MEDLINE | ID: mdl-32015466

RESUMO

Schizophrenia is a complex genetic disorder, the non-Mendelian features of which are likely complicated by epigenetic factors yet to be elucidated. Here, we performed RNA sequencing of peripheral blood RNA from monozygotic twins discordant for schizophrenia, and identified a schizophrenia-associated upregulated long noncoding RNA (lncRNA, AC006129.1) that participates in the inflammatory response by enhancing SOCS3 and CASP1 expression in schizophrenia patients and further validated this finding in AC006129.1-overexpressing mice showing schizophrenia-related abnormal behaviors. We find that AC006129.1 binds to the promoter region of the transcriptional repressor Capicua (CIC), facilitates the interactions of DNA methyltransferases with the CIC promoter, and promotes DNA methylation-mediated CIC downregulation, thereby ameliorating CIC-induced SOCS3 and CASP1 repression. Derepression of SOCS3 enhances the anti-inflammatory response by inhibiting JAK/STAT-signaling activation. Our findings reveal an epigenetic mechanism with etiological and therapeutic implications for schizophrenia.

17.
Biomed Pharmacother ; 125: 109890, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32106369

RESUMO

Hepatocellular carcinoma (HCC) is worldwide accepted most common malignancies, as well as the second major cause of death among Chinese with cancer. There is an increasing evidence that could prove the potential effect of long non-coding RNAs (lncRNAs) to the biological performance of HCC. In present study, with high expression level in The Cancer Genome Atlas (TCGA) HCC samples, lncRNA MFI2 Antisense RNA 1 (MFI2-AS1) was closely related to poor prognosis and advanced stage among patients with HCC. In addition, up-regulation of MFI2-AS1 was further comfirmed in HCC tissues and HCC cell line. Ectopic expression of MFI2-AS1 stimulated the proliferation and metastasis of HCC cells, but knockdown MFI2-AS1 suppressed HCC cell proliferation and metastasis, indicating that MFI2-AS1 exerted oncogenic functions in the tumorigenesis of HCC. Simultaneously, compared with the negative control group, xenograft tumors in MFI2-AS1 group were characterized with poor growth, smaller volumes and less liver metastases. The post-transcriptional regulation of FOXM1 by MFI2-AS1 occured mechanistically, playing a role of competing with endogenous RNA (ceRNA) in HCC to sponge miR-134. Over-expression of MFI2-AS1 increased FOXM1 expression both at mRNA and protein level, whereas it was reducd by miR-134. Meanwhile, knockdown of miR-134 abolished the repression of shMFI2-AS1 on FOXM1 expression. Furthermore, we demonstrated that miR-134 reverses the impact of MFI2-AS1 on HCC proliferation and metastasis through regulation on FOXM1. Collectively, we determined that MFI2-AS1 crucially acted in HCC progression via functioning as miR-134 sponge to upregulating FOXM1 expression, and was conducive to the promotion of better understanding the direct diagnostics and iatreusiology of lncRNA in HCC.

18.
Obes Rev ; 2020 Jan 30.
Artigo em Inglês | MEDLINE | ID: mdl-32003149

RESUMO

A growing body of research links traffic-related environmental factors to childhood obesity; however, the evidence is still inconclusive. This review aims to fill this important research gap by systematically reviewing existing research on the relationship between traffic-related environmental factors and childhood obesity. Based on the inclusion criteria, 39 studies are selected with environmental factors of interest, including traffic flow, traffic pollution, traffic noise, and traffic safety. Weight-related behaviours include active travel/transport, physical activity (PA), and intake of a high trans-fat diet or stress symptoms; weight-related outcomes are mainly body mass index (BMI) or BMI z-scores and overweight/obesity. Of 16 studies of weight-related behaviours, significant associations are reported in 11 out of 12 studies on traffic flow (two positively and nine negatively associated with PA), five out of six studies on traffic safety (four positively and one negatively associated with PA), one study on traffic pollution (positively with unhealthy food consumption), and one study on traffic noise (negatively associated with PA). Among 23 studies of weight-related outcomes, significant associations are reported in six out of 14 studies on traffic flow (five positively and one negatively associated with obesity outcome), seven out of 10 studies on traffic pollution (all positively associated with obesity outcome), and two out of five on traffic noise (all positively associated with obesity outcome). Our findings show that long-term traffic pollution is weakly positively associated with children's BMI growth, and traffic flow, pollution, and noise could affect weight-related behaviours. Associations between traffic density and noise and weight status are rather inconclusive.

19.
Mol Genet Genomic Med ; : e1184, 2020 Feb 26.
Artigo em Inglês | MEDLINE | ID: mdl-32100970

RESUMO

BACKGROUND: Panel-based targeted exome sequencing was used to analyze the genetic and clinical findings of targeted genes in a cohort of northeast Chinese with retinitis pigmentosa. METHODS: A total of 87 subjects, comprising 23 probands and their family members (total patients: 32) with confirmed retinitis pigmentosa were recruited in the study. Panel-based targeted exome sequencing was used to sequence the patients and family members, all subjects with retinitis pigmentosa underwent a complete ophthalmologic examination. RESULTS: Of the 23 probands, the clinical manifestations include night blindness, narrowing of vision, secondary cataracts, choroidal atrophy, color blindness, and high myopia, the average age of onset of night blindness is 12.9 ± 14 (range, 0-65; median, 8). Posterior subcapsular opacities is the most common forms of secondary cataracts (nine cases, 39.1%), and peripheral choroidal atrophy is the most common form of secondary choroidal atrophy (12 cases, 52.2%). Of these probands with complication peripheral choroidal atrophy, there were eight probands (66.7%, 8/12) caused by the pathogenic variation in USH2A gene. A total of 17 genes and 45 variants were detected in 23 probands. Among these genes, the commonest genes were USH2A (40%; 18/45), RP1 (15.6%; 7/45), and EYS (8.9%; 4/45), and the top three genes account for 56.5% (13/23) of diagnostic probands. Among these variants, comprising 22 (48.9%) pathogenic variants, 14 (31%) likely pathogenic variants, and nine (20%) uncertain clinical significance variants, and 22 variants was discovered first time. Most of the mutations associated with RP were missense (53.3%, 24/45), and the remaining mutation types include frameshift (35.6%, 16/45), nonsense (6.7%, 3/45), and spliceSite (4.4%, 2/45). Among the probands with mutations detected, compound heterozygous forms was detected in 13 (56.5%, 13/23) probands, and digenic inheritance (DI) forms was detected in five (21.7%, 5/23) probands. CONCLUSION: Panel-based targeted exome sequencing revealed 23 novel mutations, recognized different combinations forms of variants, and extended the mutational spectrum of retinitis pigmentosa and depicted common variants in northeast China.

20.
Biomed Environ Sci ; 33(1): 1-10, 2020 Jan 20.
Artigo em Inglês | MEDLINE | ID: mdl-32029053

RESUMO

Objective: To estimate the burden of cirrhosis and other chronic liver diseases caused by specific etiologies in China. Methods: Data from the Global Burden of Disease Study 2016 (GBD 2016) were used. We evaluated the burden by analyzing age-sex-province-specific prevalence, mortality, and disability-adjusted life-years (DALYs) of 33 provinces in China. Results: From 1990 to 2016, prevalence cases in thousands increased by 73.7% from 6833.3 (95% UI: 6498.0-7180.6) to 11869.6 (95% UI: 11274.6-12504.7). Age-standardized mortality and DALY rates per 100,000 decreased by 51.2% and 53.3%, respectively. Male and elderly people (aged ≥ 60 years) preponderance were found for prevalence, mortality, and DALYs. The number of prevalence cases, deaths, and DALYs due to hepatitis C virus (HCV) increased by 86.6%, 8.7%, and 0.9%, respectively. Also, age-standardized prevalence rates decreased in 31 provinces, but increased in Yunnan and Shandong. The Socio-demographic Index (SDI) values were negatively correlated with age-standardized mortality and DALY rates by provinces in 2016; the correlation coefficients were -0.817 and -0.828, respectively. Conclusion: Cirrhosis and other chronic liver diseases remain a huge health burden in China, with the increase of population and the aging of population. Hepatitis B virus (HBV) remains the leading cause of the health burden in China.

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