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The centromere is the special region on a chromosome, which serves as the site for assembly of kinetochore complex and is essential for maintaining genomic integrity. Neocentromeres are new centromeres that form on the non-centromeric regions of the chromosome when the natural centromere is disrupted or inactivated. Although neocentromeres lack the typical features found in centromeres, cells with neocentromeres divide normally during mitosis and meiosis. Neocentromeres not only arise naturally but their formation can also be induced experimentally. Therefore, neocentromeres are a great tool for studying functions and formation of centromeres.

To study neocentromeres and use that knowledge to gain insights into the epigenetic regulation of canonical centromeres.

Here, we review the characteristics of naturally occurring centromeres and neocentromeres and those of experimentally induced neocentromeres. We also discuss the mechanism of centromere formation and epigenetic regulation of centromere function, which we learned from studying the neocentromeres. Although neocentromeres lack main features of centromeres, such as presence of repetitive ⍺-satellite DNA and pericentric heterochromatin, they behave quite similar to the canonical centromere, indicating the epigenetic nature of the centromere. Still, further investigation will help to understand the formation and maintenance of the centromere, and the correlation to human diseases.

Neocentromeres helped us to understand the formation of canonical centromeres. Also, since neocentromeres are associated with certain cancer types, knowledge about them could be helpful to treat cancer.

Neocentromeres helped us to understand the formation of canonical centromeres. Also, since neocentromeres are associated with certain cancer types, knowledge about them could be helpful to treat cancer.Genomic research is driving discovery for future population benefit. Limited evidence exists on immediate patient and health system impacts of research participation. This study uses real-world data and quasi-experimental matching to examine early-stage cost and health impacts of research-based genomic sequencing. British Columbia's Personalized OncoGenomics (POG) single-arm program applies whole genome and transcriptome analysis (WGTA) to characterize genomic landscapes in advanced cancers. Our cohort includes POG patients enrolled between 2014 and 2015 and 11 genetic algorithm-matched usual care controls. We undertake a cost consequence analysis and estimate 1-year effects of WGTA on patient management, patient survival, and health system costs reported in 2015 Canadian dollars. WGTA costs are imputed and forecast using system of equations modeling. We use Kaplan-Meier survival analysis to explore survival differences and inverse probability of censoring weighted linear regression to estimate mean 1-year suchnologies. We identify situations where precision oncology research initiatives may produce survival benefit at a cost that is within healthcare systems' willingness to pay. This economic evidence informs the early-stage healthcare impacts of precision oncology research.We report a case series of patients with high myopia (axial length 25.04-27.59 mm) diagnosed with cataract and maculopathy who underwent a combined procedure of phacoemulsification with implantation of a large optic intraocular lens (IOL) and intravitreal injection. Six patients with a mean (± standard deviation) age of 73.20 ± 7.19 years received the 7.0-mm optic ASPIRA-aXA IOL (HumanOptics AG, Erlangen, Germany) and intravitreal injection of aflibercept at the end of the surgery. The corrected distance visual acuity (CDVA) improved significantly (p = 0.001) from a preoperative logMAR of 0.87 ± 0.28 logMAR to 0.49 ± 0.18 logMAR at 10 weeks postoperatively. Even though all patients had a persisting central scotoma due to their maculopathy, there was a significant improvement in their subjective quality of life and self-autonomy. check details Patients reported no postoperative dysphotopsia. During surgery and postoperative examinations, the wide IOL optic permitted an enhanced view of the fundus. The IOLs remained stable after implantation, especially during the intravitreal injection at the end of the surgery. No IOL displacement or shift of the lens was observed. Retinal diseases are sight-threatening and diminish the patient's quality of life due to reduced visual acuity and visual field defects. When cataract surgery is performed in this patient group, a reduced prognosis can be assumed. Our results show that implantation of the large optic IOL enables a wide view of the fundus during and after surgery without any additional risks or negative effects. It may also reduce the risk of dysphotopsia in cases of IOL decentration in large capsular bags, but comparative studies with a higher number of cases are needed to confirm this. A large rhexis and large IOL optic seem to be advantageous for the retinal surgeon in follow-up surgeries on the posterior segment of the eye.Selenium polysaccharides (Se-polysaccharides) are one of important forms of organic Se, in which selenium (Se) and polysaccharides are joined by covalent bonds. In the present review, recent progress in chemical structure and hypoglycemic activity of Se-polysaccharides is summarized. In particular, the mechanism underlying hypoglycemic capacity of Se-polysaccharides is discussed, and the relationship between hypoglycemic activity and chemical structure is analyzed. Besides, strategies for further research into chemical structure and hypoglycemic activity of Se-polysaccharides are proposed. Hypoglycemic activity of Se-polysaccharides is closely related to their inhibitory effect on α-amylase and α-glucosidase, influence on insulin signal pathway especially IRS-PI3K-Akt signaling pathway, and protection capacity against oxidative stress.

Kabuki syndrome is a rare congenital condition characterized clinically by unique facial features, abnormalities in the skeleton, finger pad abnormalities, and developmental delays, as well as a range of other health issues. Existing research lacks information on the daily burden of living with Kabuki syndrome.

A survey collected caregiver- and patient-reported data about the experience of living with Kabuki syndrome in order to better understand its presentation and effect on patients and their psychosocial well-being.

A total of 68 participants (n = 57 caregivers and n = 11 adolescents) were recruited from the USA and Canada. Caregiver survey participants reported developmental delays and lower IQ in individuals with Kabuki syndrome compared to the general population, as well as difficulty with cognitive-related tasks, need for educational accommodations, and difficulty with particular school subjects and with daily tasks. Additionally, participants reported significant emotional, social, and communication-related impacts of Kabuki syndrome. Adolescent data largely corroborated the information collected from caregivers, with the exception of adolescents reporting the emotional and social impacts as occurring less frequently.

Kabuki syndrome is a multidimensional disease which has substantial negative effects on physical, mental, emotional, and social aspects of health-related quality of life. This research adds to the limited existing body of literature on the clinical presentation of Kabuki syndrome and provides a novel perspective into the caregiver and adolescent perception of the burden of Kabuki syndrome.

Kabuki syndrome is a multidimensional disease which has substantial negative effects on physical, mental, emotional, and social aspects of health-related quality of life. This research adds to the limited existing body of literature on the clinical presentation of Kabuki syndrome and provides a novel perspective into the caregiver and adolescent perception of the burden of Kabuki syndrome.Observing others performing an action can lead to false memories of self-performance - the observation-inflation effect. The action simulation hypothesis proposes that an action simulation caused by people's observation of an action is the key reason for this effect. Previous studies have inconsistent views of this hypothesis. In the present study, we re-examined the role of action simulation and discussed the key aspects of the mental processes associated with it. We examined the hypotheses that (a) the magnitude of the observation-inflation effect would decrease as the action simulation was impeded and (b) the magnitude of the observation-inflation effect would not be significantly different in conditions in which participants watched either a part of a video or a full video. The results are consistent with the hypotheses. This study provides strong evidence that action simulation influences the generation of observation-inflation effects and that the process is continuous and can refer to further action information.

Patients with aneurysmal subarachnoid hemorrhage (aSAH) with electroencephalographic epileptiform activity (seizures, periodic and rhythmic patterns, and sporadic discharges) are frequently treated with antiseizure medications (ASMs). However, the safety and effectiveness of ASM treatment for epileptiform activity has not been established. We used observational data to investigate the effectiveness of ASM treatment in patients with aSAH undergoing continuous electroencephalography (cEEG) to develop a causal hypothesis for testing in prospective trials.

This was a retrospective single-center cohort study of patients with aSAH admitted between 2011 and 2016. Patients underwent ≥ 24h of cEEG within 4days of admission. All patients received primary ASM prophylaxis until aneurysm treatment (typically within 24h of admission). Treatment exposure was defined as reinitiation of ASMs after aneurysm treatment and cEEG initiation. We excluded patients with non-cEEG indications for ASMs (e.g., epilepsy, acute symptomh higher mortality (propensity-adjusted HR = 6.80 [95% CI 1.67-27.65]) and lower likelihood for good outcomes (propensity-adjusted HR = 0.30 [95% CI 0.10-0.94]) compared with prophylaxis only.

Our findings suggest the testable hypothesis that continuing ASMs in patients with aSAH with cEEG abnormalities does not improve functional outcomes. This hypothesis should be tested in prospective randomized studies.

Our findings suggest the testable hypothesis that continuing ASMs in patients with aSAH with cEEG abnormalities does not improve functional outcomes. This hypothesis should be tested in prospective randomized studies.Bullying victimization is a prevalent problem in upper elementary school that predicts various detrimental outcomes. Increasing evidence suggests that interindividual differences in the severity of these outcomes result from differences in victimization experiences. However, longitudinal research largely overlooked victimization forms. Additionally, it is unclear how the quality of students' relationships with peers and teachers functions as a risk or protective factor for different patterns of victimization development. This one-year longitudinal study investigated joint trajectories of relational and physical victimization and examined differences between these trajectory classes regarding classroom social relationships as possible antecedents and social-emotional well-being as a possible outcome. A sample of 930 fourth to sixth graders (55 classes, 53.1% girls, Mage = 10.55, SD = 0.90) completed self-reports about relational and physical victimization and social-emotional outcomes (i.e., depressive symptoms, self-esteem).