Simonsensnow2117

05), but there was no significant telomere shortening in comparison to MDS/AML patients with a complex karyotype without der(5;17). No fusion genes resulted from the unbalanced translocation. This study demonstrates that the unbalanced translocation der(5;17) is associated with a biallelic inactivation of TP53 due to a deletion of TP53 in one allele and a pathogenic variant of the second TP53 allele. Since the breakpoints are located within (near-) heterochromatic regions, alterations of DNA methylation or histone modifications may be involved in the generation of der(5;17).

Autosomal-dominant hypocalcified amelogenesis imperfecta (ADHCAI) shows phenotypic heterogeneity. Our aim was to characterise the ADHCAI phenotypes, tooth properties and genotypes.

Three unrelated ADHCAI probands and seven additional affected members of the three families were recruited. Mutations were identified by exome and Sanger sequencing, and haplotypes by SNP array. Tooth colour, roughness, density, nanohardness, minerals and ultrastructure were investigated.

Ten participants were heterozygous for the FAM83H mutation c.1387C>T (p.Gln463*). All shared a 3.43 Mbp region on chromosome 8q24.3 encompassing the FAM83H variant, indicating a common ancestry. The c.1387C>T was estimated to be 23.8 generations or 600years. The FAM83H enamel had higher roughness and lower lightness, density, nanohardness, and calcium and phosphorus levels than controls. Blunted enamel rods, wide interrod spaces and disorganised dentinoenamel junctions were observed. Evaluating the patients with the same mutation and reviewing others with different mutations in FAM83H revealed that the FAM83H heterogeneous phenotypes are age-influenced. selleck kinase inhibitor Tooth colour and surface texture change with ageing.

FAM83H enamel demonstrated decreased lightness, density, hardness, calcium, phosphorus and defective ultrastructure. We have identified that the phenotypic variation in FAM83H-associated ADHCAI is age-related. Awareness of the correlation between age and clinical features of FAM83H-ADHCAI can help dentists make an accurate diagnosis.

FAM83H enamel demonstrated decreased lightness, density, hardness, calcium, phosphorus and defective ultrastructure. We have identified that the phenotypic variation in FAM83H-associated ADHCAI is age-related. Awareness of the correlation between age and clinical features of FAM83H-ADHCAI can help dentists make an accurate diagnosis.

The aim of this study was to explore the relationship between workplace bullying and mental health, focusing on the indirect effect of post-traumatic stress responses and moderation of nurses' perception of workplace bullying.

Post-traumatic stress symptoms frequently result from workplace bullying, but how nurses' individual appraisals relate to negative consequences is unclear.

A cross-sectional online survey was conducted with 319 Korean nurses; participants were divided into the perceived and non-perceived workplace bullying groups. Moderated mediation models were tested using structural equation modelling with Stata version 16.

Regardless of nurses' appraisals, higher levels of workplace bullying were associated with poor mental health. Post-traumatic stress symptoms indirectly impacted the relationship in both groups, but post-traumatic growth did not. The perceived group showed a partial negative association between post-traumatic growth and mental health.

It is necessary to develop systems for early detection of mental health problems to create safe work environments not only for nurses who perceive workplace bullying but also for those who do not.

Staff education and institutional support that consider PTSS are recommended for all nurses.

Staff education and institutional support that consider PTSS are recommended for all nurses.Evaluation of protected area effectiveness is critical for conservation of biodiversity. Protected areas that prioritize biodiversity conservation are, optimally, located and managed in ways that support relatively large and stable or increasing wildlife populations. Yet evaluating conservation efficacy remains a challenging endeavor. We used an extensive community science data set, eBird, to evaluate the efficacy of protected areas for birds across the Gulf of Mexico and Atlantic coasts of the United States. We modeled trends (2007-2018) for 12 vulnerable waterbirds that use coastal areas during breeding or wintering. We compared two types of protected areas-sites where conservation organizations implemented active stewardship or management or both to reduce human disturbance (hereafter stewardship sites) and local, state, federal, and private protected areas managed to maintain natural land cover (hereafter protected areas)-as well as unprotected areas. We evaluated differences in trends between stewardshipure conservation of vulnerable waterbirds.

To investigate the effect of Yiqifumai injection (YQFM), a compound Chinese medicine, and its main active ingredients on lipopolysaccharide (LPS)-induced microvascular disturbance in mesentery and ileum.

Rats were infused with LPS (5mg/kg/h) for 90min. Thirty minutes after initiation of LPS administration, YQFM (160mg/kg/h), Rb1 (5mg/kg/h), Sch (2.5mg/kg/h), or Rb1+Sch (5mg/kg/h+2.5mg/kg/h) was infused until 90min. Human umbilical vein endothelial cells (HUVECs) were incubated with LPS (100ng/ml) for 90min. YQFM (1mg/ml), Rb1 (100µM), Sch (100µM), or Rb1+Sch (200µM) was added 30min after initiation of LPS stimulation.

Yiqifumai injection and Rb1+Sch inhibited mesenteric venule hyperpermeability, suppressed microvillar erosion and submucosal edema, and protected claudin-5 from downregulation and interleukin-1β from upregulation in ileal tissues after LPS. Study in HUVECs confirmed the effect of YQFM and Rb1+Sch on JAM-1 after LPS and revealed a similar effect on other junction proteins. Moreover, YQFM and Rb1+Sch attenuated the dysfunctional energy metabolism and the activation of TLR-4/Src/NF-κB signaling with Rb1 and Sch being partially effective.

These results demonstrated the beneficial effect of post-treatment with YQFM, which is attributable to its main ingredient Rb1 and Sch, and likely mediated by targeting TLR-4/Src/NF-κB signaling pathway.

These results demonstrated the beneficial effect of post-treatment with YQFM, which is attributable to its main ingredient Rb1 and Sch, and likely mediated by targeting TLR-4/Src/NF-κB signaling pathway.Novel HLA alleles HLA-A*24517N and HLA-B*4686 are identified in two Kalmyk individuals.

To examine how the ongoing COVID-19 pandemic impacts child well-being and family functioning, particularly among children at risk for neurodevelopmental impairments.

Families of 73 typically developing children, 54 children born very preterm (VPT) and 73 children with congenital heart disease (CHD) from two prospective cohort studies were assessed prior to (mean age 10.4 [SD 1.2] years) and during (mean age 12.8 [SD 2.0] years) the pandemic, more specifically, in April/May 2020. Child well-being and family functioning were assessed with validated, parent-reported questionnaires and tested with linear mixed models. Group comparison of child distress and parental concerns related to medical implications of COVID-19 and homeschooling, assessed with 5-point Likert scales, was done with Mann-Whitney U tests.

Children's psychological well-being and family functioning (both, p<0.001) decreased significantly during the pandemic, irrespective of group. Children with CHD were reported to be more concerned about becoming infected with SARS-CoV-2 than were others. Child distress due to homeschooling and parents' concerns about children's academic achievements were significantly higher in VPT and CHD children than in typically developing peers (all p<0.001).

The COVID-19 pandemic substantially impacts the whole family and leads to additional distress in families with children at risk for neurodevelopmental impairments. These families should receive individualised counselling and assistance from healthcare providers and schools during the pandemic.

The COVID-19 pandemic substantially impacts the whole family and leads to additional distress in families with children at risk for neurodevelopmental impairments. These families should receive individualised counselling and assistance from healthcare providers and schools during the pandemic.

To explore the South Korean nurses' perspectives on the current hospital working conditions in order to identify causes of persistent high turnover rates among the nurses.

High turnover rates of hospital nurses continue to pose a serious challenge to South Korean health care system despite the government's recent efforts to improve working conditions. Many studies in the past had examined factors related to the turnover and provided only a partial understanding of turnover predictors. However, nurses' perceptions on the current working conditions must be considered to explore possible causes of continued high turnover, to identify solutions and to improve working conditions by addressing nurses' concerns.

This study is a qualitative study using focus group interviews with 33 nurses from 11 South Korean hospitals.

Three main themes and eight subthemes related to reducing hospital nurse turnover were identified.

To address hospitals' nursing shortages in South Korea, it is important to address poor work environments.

This study showed that more transformational policies should be developed and implemented to change working conditions by reducing excessive workloads and improve how nurses are treated and viewed so as to retain existing nurses and ease the nurse turnover rates.

This study showed that more transformational policies should be developed and implemented to change working conditions by reducing excessive workloads and improve how nurses are treated and viewed so as to retain existing nurses and ease the nurse turnover rates.

The systemic inflammation response index (SIRI) is an independent prognostic factor for many malignant tumors. However, the value of this factor in patients with clinical T1-2N0 (cT1-2N0) oral squamous cell carcinoma (OSCC) is still unclear.

We calculated SIRI of 235 cT1-2N0 OSCC patients from 2013 to 2017. Multivariate cox regression analysis was applied to verify the prognostic significance of SIRI. Kaplan-Meier curves were plotted to analyze the overall survival (OS) and disease-specific survival (DSS) for cT1-2N0 OSCC patients.

According to the optimal cutoff point of SIRI, we divided cT1-2N0 OSCC patients into high SIRI group (SIRI≥1.3) and low SIRI group (SIRI<1.3). SIRI was an independent prognostic indicator for OS (HR=2.87; 95% CI=1.35-6.10; p=.006) and DSS (HR=2.17; 95% CI=1.10-4.27; p=.025). High SIRI had a significantly poorer OS (p=.001) and DSS (p=.007) in survival analysis than the low SIRI. Moreover, the prognostic value of SIRI was significantly stronger than neutrophil-to-lymphocyte ratio (NLR) and monocyte-to-lymphocyte ratio (MLR).

Preoperative SIRI can be regarded as a meaningful indicator for poor survival of cT1-2N0 OSCC patients, and it is a promising tool to formulate the best individualized treatment for high-risk patients.

Preoperative SIRI can be regarded as a meaningful indicator for poor survival of cT1-2N0 OSCC patients, and it is a promising tool to formulate the best individualized treatment for high-risk patients.