Cochranhedrick2940

OBJECTIVE OF THE STUDY To identify the pathogenic gene and mutation site of a Chinese family with congenital cataract. METHODS Eight family members and 100 controls were employed, and targeted exome sequencing was used to identify the genetically pathogenic factor of the proband. RESULTS Targeted next-generation sequencing identified a novel missense mutation c.209A>C (p.Q70P) of CRYBB1 gene in the family. Sanger sequencing results showed that this heterozygous mutation was a causative mutation, which was not found in unaffected family members and healthy controls. Bioinformatics predicts that the effect of this mutation on protein function is probably harmful. CONCLUSION We demonstrate that c.209A>C of CRYBB1 gene is a pathogenic mutation in the family of congenital nuclear cataract in this study. This is the first report that this mutation leads to congenital nuclear cataract, which broadens the mutation spectrum of CRYBB1 gene in congenital nuclear cataract.Background In AUGUSTUS, patients with atrial fibrillation (AF) and a recent acute coronary syndrome (ACS) and/or those undergoing percutaneous coronary intervention (PCI) had less bleeding with apixaban than vitamin K antagonist (VKA) and with placebo than aspirin, however, the number of ischemic events was numerically higher with placebo. The aim of this analysis is to assess the tradeoff of risk (bleeding) and benefit (ischemic events) over time with apixaban versus VKA and aspirin versus placebo. selleck kinase inhibitor Methods In AUGUSTUS, 4614 patients with AF and recent ACS and/or PCI on a P2Y12 inhibitor were randomized to blinded aspirin or placebo and to open-label apixaban or VKA for 6 months. In a post-hoc analysis, we compared the risk of 3 composite bleeding outcomes and 3 composite ischemic outcomes from randomization through 30 days and from 30 days to 6 months with apixaban and VKA and with aspirin and placebo. Results Compared with VKA, apixaban had either lower or similar risk of bleeding and ischemic outcomes fromr an ACS and/or PCI in patients with AF receiving oral anticoagulation. Clinical Trial Registration URL https//clinicaltrials.gov Unique Identifier NCT02415400.Objectives This study aimed to investigate the occurrence of suicidal ideation and associated factors in older persons with dementia living at home in eight European countries, and its association with quality of life. Furthermore, changes in suicidal ideation over time were investigated.Methods This cohort study (n = 1,223) was part of the European "RightTimePlaceCare" project conducted in 2010-2013. Participating countries were Estonia, Finland, France, Germany, the Netherlands, Spain, Sweden and the United Kingdom. Baseline and follow-up data were analysed using bivariate and multivariate logistic regression.Results The occurrence of suicidal ideation in the participating countries varied between 6% and 24%. Factors significantly (p  less then  0.0018) associated with suicidal ideation using bivariate analysis were nationality, depressive symptoms, delusions, hallucinations, agitation, anxiety, apathy, disinhibition, irritability, night-time behaviour disturbances, anxiolytics and anti-dementia medication. In the multivariate regression analysis, country of origin, moderate stage of the dementia, depressive and delusional symptoms, and anti-dementia medication were significantly associated with suicidal ideation (p  less then  0.05). Over time, suicidal ideation decreased from severe to mild or became absent in 54% of the persons with dementia.Conclusion It is essential that professionals identify older persons with dementia and suicidal ideation and depressive and other psychological symptoms in order to give them appropriate treatment and provide relief for their informal caregivers. We emphasize the importance of identifying suicidal ideation, irrespective of depressive symptoms, and specifically of paying attention to persons with moderate dementia. Living with the informal caregiver seems to be associated with staying stable without suicidal ideation.Background and Objectives Based on the results of past research on emotion regulation and positive behavioral change via self-affirmation, it was hypothesized that self-affirmation should help socially anxious individuals to reduce social anxiety symptoms. The effectiveness of a brief self-affirmation intervention framed in terms of implementation intentions (if-then plans with self-affirming cognitions) was compared against forming non-affirming implementation intentions (with distraction as a way of coping) and inactive control condition. Additionally, it was tested whether mental contrasting can augment the impact of the self-affirmation intervention.Design/Methods Participants (N = 198, aged 18-45) were randomly assigned to one of three intervention conditions (self-affirming implementation intention, mental contrasting with self-affirming implementation intention, or non-affirming implementation intention) or an inactive control-group. Social anxiety symptoms were assessed at baseline and at one-week post-intervention.Results The difference between the interventions and the control group was substantial. However, there were no differences in the reduction of overall social anxiety levels between the interventions. Each of the interventions produced a statistically significant reduction in social anxiety (Cohen's ds from -.40 to -.50).Conclusions The results indicate no advantage for self-affirming over non-affirming implementation intentions in reducing social anxiety symptoms. Moreover, no superiority of mental contrasting was found.Triple-negative breast cancer (TNBC) comprises about 10-20% of all diagnosed breast cancers. Increasing evidence shows that the omega-3 polyunsaturated fatty acids (ω-3PUFAs), docosahexaenoic acid and eicosapentaenoic acid, can influence the development, progression, and prognosis of TNBC In Vivo and In Vitro; however, clinical evidence supporting the effect of ω-3PUFAs on TNBC is lacking. Research has demonstrated that ω-3PUFAs can induce apoptosis in breast cancer cells by inhibiting the PI3K/AKT signal transduction pathway, and that ω-3PUFAs can improve the effectiveness of chemotherapy drugs. Using ω-3PUFA supplementation in addition to pharmacotherapy in the treatment of breast cancer may result in enhanced anti-tumor effects that will be particularly applicable to difficult to treat phenotypes such as TNBC. The aim of the current review was to summarize the evidence-base supporting the antitumor effects of omega-3 PUFAs in TNBC.