Activity

  • Ballard Dickinson posted an update 1 week, 1 day ago

    The positive predictive values (PPVs) for T21 (n = 47), T18 (n = 15), T13 (n = 7), XO (n = 8), other SCA (n = 7), and triploidy/VT were 94%, 100%, 58.3%, 66.7%, 70%, and 57.1%, respectively. None of repeated no-calls had aneuploidies. CONCLUSION SNP-based NIPS has high PPVs for T21 and T18. Although the proprietary SNPs library is not population-specific, uninformative SNPs are uncommon. © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.BACKGROUND Anhydramnios results from the poor development of the placenta or problems with intrauterine development of the kidneys or urinary tract. Complete lack of amniotic fluid indicates a severe problem with the organs of the urinary system. The genes associated with anhydramnios show very diversity and are not yet well defined. METHODS Whole-exome sequencing (WES) was used for an aborted male case around the 20th week of gestation diagnosed with anhydramnios. The resulted deleterious variants were verified by Sanger sequencing. Pathogenicity of deleterious variants was explored by in silico analysis. RESULTS A maternally inherited deleterious frameshift variant, c.1454_1455insC, p.(S486Ffs29) in exon 9 and two paternally inherited missense variants c.1037C > G, p.(Ser346Trp) in exon 7 and c.1465A > G, p.(Asn489Asp) in exon 9 of Angiotensin-I-Converting Enzyme (ACE) gene were found and confirmed by Sanger sequencing. c.1454_1455insC, p.(S486Ffs29) and c.1037C > G, p.(Ser346Trp) were identified as two novel compound heterozygous deleterious variants. The pathogenicity of these deleterious variants was determined by in silico analysis and both the deleterious variants disrupt the structure of the ACE protein. CONCLUSION Two novel compound heterozygous variants were identified in the case with anhydramnios, which may be associated with pathogenicity of anhydramnios. Our data also revealed that the WES approach may provide helpful information for genetic counseling of the families with anhydramnios. © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.OBJECTIVES This research aimed to explain how the Safe Recovery Programme (SRP) may best work to reduce falls in older adults undergoing rehabilitation in four wards in an older person’s health and rehabilitation service. METHODS Qualitative realist methods were used, including surveys completed by patients and staff, and qualitative interviews or focus groups exploring views of patients, ward staff and SRP educators. RESULTS Emphasising different types of information for patients with different pre-existing understandings may facilitate their responses to SRP messaging. Consistency and coherence of SRP messaging within ward routines varied in response to staff SRP training and ongoing feedback mechanisms from SRP educators. CONCLUSIONS Tailored individualised approaches for patients with specific characteristics may lead to patients being less likely to engage in risky behaviours. Staff training and processes for facilitating ongoing feedback between patients, SRP and ward staff are required to ensure consistency and coherence of SRP messaging. © 2020 AJA Inc.Cannabis abuse during adolescence confers an increased risk for developing later in life cognitive deficits reminiscent of those observed in schizophrenia, suggesting common pathological mechanisms that remain poorly characterized. In line with previous findings that revealed a role of 5-HT6 receptor-operated mTOR activation in cognitive deficits of rodent developmental models of schizophrenia, we show that chronic administration of ∆9-tetrahydrocannabinol (THC) to mice during adolescence induces a long-lasting activation of mTOR in prefrontal cortex (PFC), alterations of excitatory/inhibitory balance, intrinsic properties of layer V pyramidal neurons, and long-term depression, as well as cognitive deficits in adulthood. All are prevented by administrating a 5-HT6 receptor antagonist or rapamycin, during adolescence. In contrast, they are still present 2 weeks after the same treatments delivered at the adult stage. Collectively, these findings suggest a role of 5-HT6 receptor-operated mTOR signaling in abnormalities of cortical network wiring elicited by THC at a critical period of PFC maturation and highlight the potential of 5-HT6 receptor antagonists as early therapy to prevent cognitive symptom onset in adolescent cannabis abusers. © 2020 The Authors. Published under the terms of the CC BY 4.0 license.Molybdenum disulfide (MoS₂) is a promising candidate as a high performing anode material for sodium-ion batteries (SIBs) due to its large interlayer spacing. However, it suffers from continued capacity fading. This problem could be overcome by hybridizing MoS₂ with nanostructured carbon-based materials but it is quite challenging. Herein, we demonstrate a single step strategy for the preparation of MoS₂ coupled with ordered mesoporous carbon nitride using nanotemplating approach which involves the pyrolysis of phosphomolybdic acid hydrate (PMA), dithiooxamide (DTO) and 5-amino-1H-tetrazole (5-ATTZ) together in the porous channels of 3D mesoporous silica template. The sulfidation to MoS₂, polymerization to carbon nitride (CN) and their hybridization occur simultaneously within a mesoporous silica template during a calcination process. The CN/MoS₂ hybrid prepared by this unique approach is highly pure and exhibits good crystallinity as well as delivers excellent performance for SIBs with the specific capacities of 605 and 431 mAh/g at current densities of 100 and 1000 mA/g respectively for SIBs. © 2020 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.BACKGROUND Reflective practice affects all levels of nursing, including students, as well as practicing nurses. Self-reflective practice is a widespread concept in nursing; however, few empirical studies have demonstrated the possible effects of such a practice. The purpose of this integrative literature review was to identify evidence of the effects of self-reflective practice on baccalaureate-level nursing students, especially stress. METHODS The literature search was conducted utilizing CINAHL and PubMed databases. The inclusion criteria were studies published between 2013 and 2018, articles that were peer-reviewed, written in English, and focused on nursing education of baccalaureate programs only. A total of 15 articles were reviewed. RESULTS There is limited but growing evidence to suggest self-reflective practices have positive effects on baccalaureate-level nursing students. The self-reflective practices decreased stress and anxiety and increased learning, competency, and self-awareness of nursing practice. While written reflections were most commonly used in the studies, other forms of reflection, such as verbal and photography, were effective as well. LINKING EVIDENCE TO ACTION Nursing students can benefit from incorporating reflection into the didactic and clinical settings. Nursing faculty are encouraged to integrate reflection into the nursing curriculum. Nurses within the first year of practice could benefit from using reflective practice as well. Experienced nurses and nurse managers can encourage and mentor novice nurses on the use and benefits of reflective practice. © 2020 Sigma Theta Tau International.This study evaluated the feasibility, acceptance, and potential clinical benefit of brief applied behavior analysis (ABA)-based interventions for children and adolescents with autism spectrum disorder (ASD) displaying challenging behaviors during hospitalizations. Participants included 36 children diagnosed with ASD, 6-17 years of age, who were medically or psychiatrically hospitalized. Children in the intervention group received a brief ABA intervention and were compared to children in the evaluation and monitoring-only group. Families and staff recommended the intervention, children receiving the intervention demonstrated significantly more improvement in unblinded ratings of clinical severity, data from physicians indicated a positive effect of the intervention on levels of staffing and restraints and attending medical providers universally reported satisfaction and benefit of the intervention. Improvements in challenging behaviors were not significantly different as reported by parents, and the length of ehaviors during hospitalizations. Families and staff evaluating the procedures noted perceived potential benefits of the intervention, but this initial pilot study did not document changes in hospitalization length or blinded rating of improvement. © 2020 International Society for Autism Research, Wiley Periodicals, Inc.Laser processing of gold nanorods (Au NRs) relying on light-matter interaction provides great opportunities in various potential applications. Unveiling the light-induced structure change is a crucial goal in order to control the shape and related properties for practical application. However, the internal atomic structure control of metallic NRs has long been a challenge. Here, the concept of internal atomic structure tailored with light is demonstrated and Au NRs with various internal atomic structures including point defects, twin structures, and polycrystalline nanospheres are fabricated. Experimental characterization and theoretical simulation show that light-induced localized energy deposition and dynamic stresses distribution give rise to atomic structure change. Au NRs with internal defects show enhanced potential to improve activity. The concept of light tailoring of internal atomic structure represents a promising strategy for the rational design of metallic NRs to boost wide applications. © 2020 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.BACKGROUND Cervical cancer is a frequent, common cancer in women, and causes high cancer-related deaths among women in our world. Accumulating studies provided an important evidence for long noncoding RNA (lncRNA) polymorphisms in the susceptibility of various cancer. Here, we recruited 494 cervical cancer cases and 504 unrelated controls to assess the relationship between CASC15 (OMIM# 616610) polymorphisms and cervical cancer susceptibility. Myc inhibitor METHODS Agena MassARRAY platform was conducted to genotype CASC15 polymorphisms. Odds ratios (ORs) and 95% confidence intervals (CIs) were analyzed through logistic regression to adjust for confounding factors, such as age and gender. RESULTS Our study suggested that rs12212674 (NC_000006.12g.22086845T>A) “A” allele was significantly associated with an increased risk of cervical cancer (OR = 1.31, 95% CI = 1.01-1.69, p = .041). The result was demonstrated in the log-additive model (OR = 1.32, 95% CI = 1.02-1.72, p = .037). After age stratification, we also found that the “TT” genotype of rs4712653 (NC_000006.11g.22125964T>C) in CASC15 was interaction with a higher cervical cancer risk in subjects aged ≤51 years in the co-dominant model (OR = 2.08, 95% CI = 1.02-4.25, p = .044) and the recessive model (OR = 2.11, 95% CI = 1.05-4.24, p = .036). Whereas no significant correlation was found among other SNPs of CASC15 polymorphisms and the risk of cervical cancer. MDR analysis illustrated that the interaction between rs7740084 (NC_000006.11g.21727531G>A), rs1555529 (NC_000006.11g.21691704A>G), and rs12212674 had a certain effect on the progress of cervical cancer. CONCLUSION Our results revealed a potential interaction between CASC15 polymorphisms and cervical cancer susceptibility. The results provided important insights into CASC15 function in the development of cervical cancer. © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.