A novel PRRX1 loss-of-function variation contributing to familial atrial fibrillation and congenital patent ductus arteriosus.

Atrial fibrillation (AF) represents the most common type of sustained cardiac arrhythmia in humans and confers a significantly increased risk for thromboembolic stroke, congestive heart failure and premature death. Aggregating evidence emphasizes the predominant genetic defects underpinning AF and an increasing number of deleterious variations in more than 50 genes have been involved in the pathogenesis of AF. Nevertheless, the genetic basis underlying AF remains incompletely understood. In the current research, by whole-exome sequencing and Sanger sequencing analysis in a family with autosomal-dominant AF and congenital patent ductus arteriosus (PDA), a novel heterozygous variation in the PRRX1 gene encoding a homeobox transcription factor critical for cardiovascular development, NM_022716.4:c.373G>T;p.(Glu125*), was identified to be in co-segregation with AF and PDA in the whole family. The truncating variation was not detected in 306 unrelated healthy individuals employed as controls. Quantitative biological measurements with a reporter gene analysis system revealed that the Glu125*-mutant PRRX1 protein failed to transactivate its downstream target genes SHOX2 and ISL1, two genes that have been causally linked to AF. Conclusively, the present study firstly links PRRX1 loss-of-function variation to AF and PDA, suggesting that AF and PDA share a common abnormal developmental basis in a proportion of cases.

Relative Risk Analysis of Liver-related Adverse Drug Reactions in Children Based on China's National Spontaneous Reporting System.

OBJECTIVE: To compare the risk of liver-related adverse drug reactions (ADRs) in children and adults. STUDY DESIGN: A case/non-case analysis on spontaneous reports based on the China National Adverse Drug Reactions Monitoring System database were conducted, focusing on events of liver-related ADRs in children younger than 14 years of age. Both the relative risk of liver-related ADRs in children vs entire population and the risk stratification in children were expressed as a measure of disproportionality using the reporting odds ratio (ROR). RESULTS: There were 1206 cases of pediatric liver-related ADRs identified from 2012 to 2016, accounting for 2.82% of the entire population. The greatest ROR values in children from 0 to 14 years vs the entire population were observed for analgesics (3.97, 95% CI 3.27-4.81), respiratory (2.60, 95% CI 1.04-6.43), antineoplastic (2.29, 95% CI 2.02-2.58), immunomodulatory (1.91, 95% CI 1.44-2.53), and antimicrobial agents (1.47, 95% CI 1.33-1.63). Notably, infants aged 0-1 years showed significantly greater risk (3.14, 95% CI 2.85-3.48) of liver-related ADRs than the other age groups of children. For infants, analgesics (3.21, 95% CI 2.20-4.66) and antimicrobials (3.15, 95% CI 2.50-3.97) agents were found to have the greatest adjusted RORs than other drug categories. The highest RORs were found for meropenem, amoxicillin, fluconazole, vancomycin, cefaclor, and ceftazidime in the antimicrobial agents for infants. CONCLUSIONS: Children are sensitive to liver-related ADRs caused by several specific drug categories, and infants are the most sensitive.

Will different sagittal and vertical skeletal types relate the soft tissue thickness: A study in Chinese female adults.

Facial reconstruction is a classical technique in forensic anthropology to reestablish the contours of the soft tissues over the skull. The accurate facial soft tissue data plays an essential role in forensic facial reconstruction. However, according to previous studies, various skeletal types might relate to different thickness in facial soft tissue. Until now, there are few publications focusing on the relationship between facial soft tissue thickness (FSTT) and different skeletal types, and none of them analyze the FSTT according to various sagittal and vertical skeletal types. The aim of this study was to testify the possible existence of correlations between FSTT and different skeletal types. In order to exclude interference from age, sex, ethnicity and body mass index (BMI) factors, we collected lateral projection X-rays data of 270 Chinese female aged 19-26 years with nomal BMI and divided them into various skeletal groups. Soft tissue thickness measurements were mainly based on 10 anthropological landmarks of the skull and statistics were analyzed on the basis of different skeletal types. The greatest differences were observed in the upper lip region of maxilla and the mental region of mandible. The concave and hypodivergent skull types showed the thickest soft tissue in maxillary region, and the convex and hypedivergent skull types showed the thickest soft tissue in the mental region. This study provided a database for FSTT according to various skeletal types in Chinese female population, and our current studies demonstrated that considering various skeletal types will improve the accuracy of facial reconstruction.

Outcomes after hepatectomy of patients with positive HBcAb Non-B Non-C hepatocellular carcinoma compared to overt hepatitis B virus hepatocellular carcinoma.

PURPOSE: Hepatitis B core antibody (HBcAb) positivity is regarded as a sensitive marker for occult and prior hepatitis B virus (HBV) infection. However, the prognosis of patients with HBcAb-positive in non-B, non-C hepatocellular carcinoma (NBNC-HCC) remains unclear. The study aimed to compare the clinicopathological characteristics of patients with HBcAb-positive NBNC-HCC to those with overt HBV (hepatitis B surface antigen positive) HCC. METHODS: 306 HCC patients underwent hepatectomy were divided into two groups: an overt HBV-HCC group and HBcAb-positive NBNC-HCC group. Then patients were analyzed using propensity score matching (PSM) to reduce selection bias. Clinicopathological characteristics and survival outcomes were compared between the two groups. Univariate and multivariate analysis for risk factors were also evaluated. RESULTS: HBcAb-positive NBNC-HCC group showed comparable survival outcomes to the overt HBV-HCC group (3-year overall survival rates 66% vs 62%, 69% vs 53%; 3-year recurrence-free survival rates 49% vs 40%, 47% vs 37%; P > 0.05) before and after PSM. Patients with HBcAb-positive NBNC-HCC were older, had more complications, higher proportions of vascular invasion, and larger tumor sizes but lower proportions of cirrhosis, elevated alanine aminotransferase and prothrombin time. CONCLUSIONS: HBcAb-positive NBNC-HCC group had more advanced tumors, but their prognosis was relatively comparable to that of the other group. Therefore, we believe that screening is also necessary in HBcAb-positive patients for early detection of HCC, especially in the elderly.

Effectiveness of nursing intervention for increasing hope in patients with cancer: a meta-analysis.

OBJECTIVE: to evaluate the efficacy of nursing interventions to increase the level of hope in cancer patients, in a meta-analysis. METHODS: electronic databases were searched. Two of the authors independently extracted data from the eligible studies, and Stata 13.0 software was used to pool the data. RESULTS: nine randomized controlled trials were included, and methodological quality of each randomized controlled trial (RCT) was evaluated using Cochrane handbook recommendations. A random effects model was used to combine results from eligible studies. The pooled results using the fixed effects model showed that scores to first effects increase significantly after the use of nursing intervention between the groups. Heterogeneity was observed among the studies for posttest (df = 8, P = 0.000; I2 =76.1 %). The results indicated significant heterogeneity across the nine selected studies. The test for heterogeneity showed no homogeneity among studies for follow-up (df = 8, P = 0.328; I2 = 12.9 %), and there was no statistical significance. CONCLUSION: the current evidence suggests that nursing intervention has a positive effect on hope in cancer patients. However, more large-scale and high-quality randomized controlled trials are needed to confirm these results.

The developmental origin of heart size and shape differences in Astyanax mexicanus populations.

Regulation of heart size and shape is one of the least understood processes in developmental biology. We have for the first time analysed the hearts of Astyanax mexicanus and identified several differences in heart morphology between the surface (epigean morph) and cave-dwelling (troglomorph) morphs. Examination of the adult revealed that the troglomorph possesses a smaller heart with a rounder ventricle in comparison to the epigean morph. The size differences identified appear to arise early in development, as early as 24 h post-fertilisation (hpf), while shape differences begin to appear at 2 days post-fertilisation. The heart of the first-generation cross between the cave-dwelling and river-dwelling morph shows uncoupling of different phenotypes observed in the parental populations and indicates that the cardiac differences have become embedded in the genome during evolution. The differences in heart morphology are accompanied by functional changes between the two morphs, with the cave-dwelling morph exhibiting a slower heart rate than the river-dwelling morph. The identification of morphological and functional differences in the A. mexicanus heart could allow us to gain more insight into how such parameters are regulated during cardiac development, with potential relevance to cardiac pathologies in humans.

Effectiveness of nursing intervention for increasing hope in patients with cancer: a meta-analysis / Eficácia da intervenção de enfermagem para aumento da esperança em pacientes com câncer: uma meta-análise / Eficacia de la intervención de enfermería para aumentar la esperanza en pacientes con cáncer: un meta análisis

ABSTRACT Objective: to evaluate the efficacy of nursing interventions to increase the level of hope in cancer patients, in a meta-analysis. Methods: electronic databases were searched. Two of the authors independently extracted data from the eligible studies, and Stata 13.0 software was used to pool the data. Results: nine randomized controlled trials were included, and methodological quality of each randomized controlled trial (RCT) was evaluated using Cochrane handbook recommendations. A random effects model was used to combine results from eligible studies. The pooled results using the fixed effects model showed that scores to first effects increase significantly after the use of nursing intervention between the groups. Heterogeneity was observed among the studies for posttest (df = 8, P = 0.000; I2 =76.1 %). The results indicated significant heterogeneity across the nine selected studies. The test for heterogeneity showed no homogeneity among studies for follow-up (df = 8, P = 0.328; I2 = 12.9 %), and there was no statistical significance. Conclusion: the current evidence suggests that nursing intervention has a positive effect on hope in cancer patients. However, more large-scale and high-quality randomized controlled trials are needed to confirm these results.

RESUMO Objetivo: meta-análise para avaliar a eficácia da intervenção de enfermagem, no nível de esperança para pacientes com câncer. Método: foram pesquisados bancos de dados eletrônicos. Dois dos autores, de forma independente, extraíram os dados dos estudos elegíveis e os agruparam no software Stata 13.0. Resultado: nove ensaios clínicos randomizados foram incluídos e a qualidade metodológica destes estudos foi avaliada utilizando as recomendações do manual Cochrane. Um modelo de efeito aleatório foi usado para combinar resultados dos estudos elencados. O agrupamento dos resultados por meio de um modelo de efeitos fixos mostrou primeiros escores revelaram um efeito significativamente maior após o uso da intervenção de enfermagem entre os grupos. Foi identificada heterogeneidade entre os estudos para pós-teste (df = 8, p = 0.000; I2 =76.1 %). Os resultados indicaram heterogeneidade significativa nos nove estudos selecionados. O teste para heterogeneidade não demonstrou homogeneidade entre os estudos de acompanhamento (df = 8, p = 0.328; I2 = 12.9 %), mas sem significância estatística. Conclusão: as evidências atuais sugerem que a intervenção de enfermagem tem um efeito positivo no sentimento de esperança em pacientes com câncer. No entanto, são necessários mais ensaios controlados randomizados em maior escala e de alta qualidade para confirmar esses resultados.

RESUMEN Objetivo: evaluar la eficacia de la intervención de enfermería para pacientes oncológicos en el nivel de esperanza en un meta análisis. Método: se buscó información en bases de datos electrónicas. Dos de los autores extrajeron de forma independiente los datos de los estudios de elegibilidad, y se utilizó el software Stata 13.0 para agrupar los datos. Resultados: se incluyeron nueve ensayos aleatorios controlados y se evaluó la calidad metodológica del ensayo controlado aleatorizado (ECA) utilizando las recomendaciones del manual Cochrane. Se utilizó un modelo de efectos aleatorios para combinar los resultados de los estudios elegibles. Los resultados agrupados utilizando el modelo de efectos fijos mostraron que las puntuaciones al primer efecto aumentan significativamente después del uso de la intervención de enfermería entre los grupos. Se observó heterogeneidad entre los estudios de post-prueba (df = 8, P = 0.000; I2 =76.1 %). Los resultados indicaron heterogeneidad significativa en los nueve estudios seleccionados. La prueba de heterogeneidad no mostró homogeneidad entre los estudios de seguimiento (df = 8, P = 0.328; I2 = 12.9 %), pero no hay significación estadística. Conclusión: la evidencia actual sugiere que la intervención de enfermería tiene un efecto positivo en la esperanza en pacientes con cáncer. Sin embargo, se necesitan más ensayos controlados aleatorios de gran escala y de alta calidad para confirmar estos resultados.

The open-cubane oxo-oxyl coupling mechanism dominates photosynthetic oxygen evolution: a comprehensive DFT investigation on O-O bond formation in the S4 state.

The dioxygen formation mechanism of biological water oxidation in nature has long been the focus of argument; many diverse mechanistic hypotheses have been proposed. Based on a recent breakthrough in the resolution of the electronic and structural properties of the oxygen-evolving complex in the S3 state, our density functional theory (DFT) calculations reveal that the open-cubane oxo-oxyl coupling mechanism, whose substrates preferably originate from W2 and O5 in the S2 state, emerges as the best candidate for O-O bond formation in the S4 state. This is justified by the overwhelming energetic superiority of this mechanism over alternative mechanisms in both the isomeric open and closed-cubane forms of the Mn4CaO5 cluster; spin-dependent reactivity rooted in variable magnetic couplings was found to play an essential role. Importantly, this oxygen evolution mechanism is supported by the recent discovery of femtosecond X-ray free electron lasers (XFEL), and the origin of the observed structural changes from the S1 to S3 state has been analyzed. In this view, we corroborate the proposed water binding mechanism during S2-S3 transition and correlate the theoretical models with experimental findings from aspects of substrate selectivity according to water exchange kinetics. This theoretical consequence for native metalloenzymes may serve as a significant guide for improving the design and synthesis of biomimetic materials in the field of photocatalytic water splitting.

Study of genetic diversity of killer cell immunoglobulin-like receptor loci in the Tujia ethnic minority.

The aim of this study was to analyze the genetic profiles of 14 killer cell immunoglobulin-like receptor (KIR) genes and 2 pseudogenes of 124 individuals from Tujia ethnic minority residing in Enshi Tujia and Miao autonomous prefecture of Hubei province of China and investigate the genetic relationships between the Tujia ethnic minority and other reported groups for the first time. Sequence specific primer amplification (PCR-SSP) methods were used to genotype the 14 KIR genes and 2 pseudogenes. The observed carrier frequencies (OF) and the gene frequencies (GF) of the KIR genes were measured. Neighbor-joining (N-J) tree and the principal component analysis (PCA) plot were constructed. All individuals were typed positive for the three framework loci KIR3DL3, 2DL4 and 3DL2, as well as for pseudogene KIR3DP1. The gene frequencies of the other KIR genes ranged from 9% in KIR2DS2 to 98% in KIR2DP1 and KIR3DL1. The present study of the KIR genes may be a powerful tool for enriching the Chinese ethnical gene information resources of the KIR gene pool, as well as for the anthropological research.

Size-class effect contributes to tree species assembly through influencing dispersal in tropical forests.

We have investigated the processes of community assembly using size classes of trees. Specifically our work examined (1) whether point process models incorporating an effect of size-class produce more realistic summary outcomes than do models without this effect; (2) which of three selected models incorporating, respectively environmental effects, dispersal and the joint-effect of both of these, is most useful in explaining species-area relationships (SARs) and point dispersion patterns. For this evaluation we used tree species data from the 50-ha forest dynamics plot in Barro Colorado Island, Panama and the comparable 20 ha plot at Bubeng, Southwest China. Our results demonstrated that incorporating an size-class effect dramatically improved the SAR estimation at both the plots when the dispersal only model was used. The joint effect model produced similar improvement but only for the 50-ha plot in Panama. The point patterns results were not improved by incorporation of size-class effects using any of the three models. Our results indicate that dispersal is likely to be a key process determining both SARs and point patterns. The environment-only model and joint-effects model were effective at the species level and the community level, respectively. We conclude that it is critical to use multiple summary characteristics when modelling spatial patterns at the species and community levels if a comprehensive understanding of the ecological processes that shape species' distributions is sought; without this results may have inherent biases. By influencing dispersal, the effect of size-class contributes to species assembly and enhances our understanding of species coexistence.

A meta-analysis of the efficacy of ureteroscopic lithotripsy and extracorporeal shock wave lithotripsy on ureteral calculi.

PURPOSE: To re-evaluated the clinic efficacy of ureteroscopic lithotripsy (URS) and extracorporeal shock wave lithotripsy (ESWL) on ureteral calculi with Cochrane systematic reviews in this paper. METHODS: We searched clinical randomized controlled trials and prospective controlled trials in databases such as Cochrane library, Medline, Springer, Elsevier Science Direct, PubMed. Pooled estimate of risk ratios (RRs), standard mean difference (SMD) with 95% confidence intervals (CIs) were used as measure of effect sizes. Summary effect estimates were also stratified by sample size, study design and study region. The overall effect sizes were derived using a random-effects model or fixed-effects model when appreciated, and meta-analysis were conducted with software RewMan 5.0. RESULTS: The meta-analysis suggested that there were significant differences of post-treatment stone free rate, repeat treatment rate, patients' satisfaction, incidence of postoperative complications, operation time and hospital stays between ESWL treatment cases and URS treatment cases. But in the sample sizes analysis, there were no significant differences of the post-treatment stone free rate and repeat treatment rate when the sample sizes were less than 100. CONCLUSIONS: Compared to the ureteroscopic lithotripsy treatment, extracorporeal shock wave lithotripsy treatment provided a significantly lower post-treatment stone free rate, but it also obviously brought out less postoperative complications, shorter operation time and hospital stays.

A meta-analysis of the efficacy of ureteroscopic lithotripsy and extracorporeal shock wave lithotripsy on ureteral calculi

PURPOSE: To re-evaluated the clinic efficacy of ureteroscopic lithotripsy (URS) and extracorporeal shock wave lithotripsy (ESWL) on ureteral calculi with Cochrane systematic reviews in this paper. METHODS: We searched clinical randomized controlled trials and prospective controlled trials in databases such as Cochrane library, Medline, Springer, Elsevier Science Direct, PubMed. Pooled estimate of risk ratios (RRs), standard mean difference (SMD) with 95% confidence intervals (CIs) were used as measure of effect sizes. Summary effect estimates were also stratified by sample size, study design and study region. The overall effect sizes were derived using a random-effects model or fixed-effects model when appreciated, and meta-analysis were conducted with software RewMan 5.0. RESULTS: The meta-analysis suggested that there were significant differences of post-treatment stone free rate, repeat treatment rate, patients' satisfaction, incidence of postoperative complications, operation time and hospital stays between ESWL treatment cases and URS treatment cases. But in the sample sizes analysis, there were no significant differences of the post-treatment stone free rate and repeat treatment rate when the sample sizes were less than 100. CONCLUSIONS: Compared to the ureteroscopic lithotripsy treatment, extracorporeal shock wave lithotripsy treatment provided a significantly lower post-treatment stone free rate, but it also obviously brought out less postoperative complications, shorter operation time and hospital stays. .

A meta-analysis of the efficacy of ureteroscopic lithotripsy and extracorporeal shock wave lithotripsy on ureteral calculi

To re-evaluated the clinic efficacy of ureteroscopic lithotripsy (URS) and extracorporeal shock wave lithotripsy (ESWL) on ureteral calculi with Cochrane systematic reviews in this paper. We searched clinical randomized controlled trials and prospective controlled trials in databases such as Cochrane library, Medline, Springer, Elsevier Science Direct, PubMed. Pooled estimate of risk ratios (RRs), standard mean difference (SMD) with 95% confidence intervals (CIs) were used as measure of effect sizes. Summary effect estimates were also stratified by sample size, study design and study region. The overall effect sizes were derived using a random-effects model or fixed-effects model when appreciated, and meta-analysis were conducted with software RewMan 5.0. The meta-analysis suggested that there were significant differences of post-treatment stone free rate, repeat treatment rate, patients' satisfaction, incidence of postoperative complications, operation time and hospital stays between ESWL treatment cases and URS treatment cases. But in the sample sizes analysis, there were no significant differences of the post-treatment stone free rate and repeat treatment rate when the sample sizes were less than 100. Compared to the ureteroscopic lithotripsy treatment, extracorporeal shock wave lithotripsy treatment provided a significantly lower post-treatment stone free rate, but it also obviously brought out less postoperative complications, shorter operation time and hospital stays.(AU)

Use of green fluorescent protein to visualize rice root colonization by Azospirillum irakense and A. brasilense.

To visualize rice root colonization by two Azospirillum species, A. irakense KBC1 was equipped with a plasmid expressing the enhanced green fluorescent protein (EGFP) and A. brasilense Sp7 was equipped with a plasmid expressing the enhanced yellow fluorescent protein (EYFP). In both cases, intensive fluorescence was observed under the epifluorescent microscope. Striking differences for association with roots of rice seedlings were observed between the two species: (i) A. irakense cells attached faster than A. brasilense to rice roots following inoculation; (ii) A. irakense attached to rice roots as vibroid cells, while A. brasilense occurred as rounded cyst-like cells; (iii) A. irakense cells were mainly found on root hairs, whereas A. brasilense cells were mainly concentrated on root surfaces. The two Azospirillum species obviously do not compete with each other for colonization of rice roots. These results demonstrate that the two Azospirillum species differ in their mode of rice root colonization. Asthe two Azospirillum species are extensively studied for unravelling mechanisms of plant root colonization and plant growth promotion, labelling with fluorescent protein is a useful additional tool for these studies.