Boltonkim4576

Hereditary hearing impairment (HI) is a common disease with the highest incidence among sensory defects. Several genes have been identified to affect stereocilia structure causing HI, including the unconventional myosin3A. Interestingly, we noticed that variants in MYO3A gene have been previously found to cause variable HI onset and severity. Using clinical exome sequencing, we identified a novel pathogenic variant p.(Lys50Arg) in the MYO3A kinase domain (MYO3A-KD). Previous in vitro studies supported its damaging effect as a 'kinase-dead' mutant. We further analyzed this variation through molecular dynamics which predicts that changes in flexibility of MYO3A structure would influence the protein-ATP binding properties. This Lys50Arg mutation segregated with congenital profound non-syndromic HI. To better investigate this variability, we collected previously identified MYO3A-KDs variants, p.(Tyr129Cys), p.(His142Gln) and p.(Pro189Thr), and built both wild type and mutant 3 D MYO3A-KD models to assess their impact on the protein structure and function. Our results suggest that KD mutations could either cause a congenital profound form of HI, when particularly affecting the kinase activity and preventing the auto-phosphorylation of the motor, or a late onset and progressive form, when partially or completely inactivating the MYO3A protein. In conclusion, we report a novel pathogenic variant affecting the ATP-binding site within the MYO3A-KD causing congenital profound HI. Through computational approaches we provide a deeper understanding on the correlation between the effects of MYO3A-KD mutations and the variable hearing phenotypes. To the best of our knowledge this is the first study to correlate mutations' genotypes with the variable phenotypes of DFNB30.Communicated by Ramaswamy H. Sarma.Decisional balance in quitting smoking involves positive and negative attitudes toward smoking. This study explored the relationship between the decisional balance of smoking and planning to quit smoking, and examined the mediating role of willingness to quit smoking and the moderating role of social support. A questionnaire survey was conducted among 326 daily male smokers from China in 2016, including the decisional balance of smoking, willingness to quit smoking, social support, planning to quit, and nicotine dependence. The results showed (1) willingness to quit smoking mediated the relationship between the decisional balance of smoking and planning to quit smoking; (2) the relationship between the decisional balance of smoking and planning to quit smoking was moderated by emotional support rather than instrumental support. Smokers with a higher level of emotional support for quitting smoking were more likely to progress to planning to quit smoking, while this relationship was not found among smokers with a lower level of emotional support. These findings suggested that smokers' willingness to quit smoking would be key to promoting their planning to quit. Meanwhile, the dynamic process of planning to quit smoking was moderated by emotional support from others.

The aim of study was to assess the impact of an enhanced recovery after surgery (ERAS) protocol and minimally invasive approaches on short-term outcomes in rectal surgery.

A consecutive series of patients that underwent open or minimally invasive rectal resections in a single institution between January 2015 and April 2020 were included in the study. An ERAS program was introduced in April 2016. The study cohort was divided into three groups open surgery without ERAS, open surgery with ERAS, and minimally invasive surgery with ERAS. Outcome measures compared were recovery parameters, surgical stress parameters, 30-day morbidity and mortality, oncological radicality and length of hospital stay.

A total of 202 patients were included 43 in the open non-ERAS group, 92 in the open ERAS group and 67 in the minimally invasive ERAS group. All recovery parameters apart from postoperative nausea and vomiting were significantly improved in both ERAS groups. Surgical stress parameters, prolonged postoperative ileus, and hospital stay were significantly reduced in the minimally invasive ERAS group. The overall 30-day morbidity and mortality and oncological radicality did not significantly differ among the three groups.

Minimally invasive approaches and enhanced recovery care in rectal surgery improve short-term outcomes. Their combination leads to an improvement in recovery parameters and a reduction of prolonged postoperative ileus and hospital stay.

Minimally invasive approaches and enhanced recovery care in rectal surgery improve short-term outcomes. Their combination leads to an improvement in recovery parameters and a reduction of prolonged postoperative ileus and hospital stay.The provision of choice within interventions has been associated with increased motivation, engagement and interest, as well as improved clinical outcomes. Existing reviews are limited by their wide inclusion criteria or by not assessing behaviour change and mood outcomes. This review examines whether participant-driven choice-based interventions specifically are more likely to be enjoyed and accepted by participants compared to no-choice interventions, and whether this impacts on intervention outcomes in terms of behaviour change or mood. Forty-four randomised controlled trials were identified for inclusion. Random effects meta-analyses were performed for retention-related outcomes (drop-out, adherence and satisfaction), and aggregate behaviour change and mood outcomes. Choice-based interventions resulted in significantly less participant drop-out and increased adherence compared to interventions not offering choice. Results for the behaviour change and mood analyses were mixed. This meta-analytic review demonstrates that choice-based interventions may enhance participant retention and adherence, thus researchers and clinicians alike should consider the provision of choice when designing research and interventions. The evidence for the role of choice in behaviour change and mood is less convincing, and there is a need for more, higher quality research in this area.The aim of this study was to review the literature on front crawl swimming biomechanics, focusing on propulsive and resistive forces at different swimming velocities. Recent studies show that the resistive force increases in proportion to the cube of the velocity, which implies that a proficient technique to miminise the resistive (and maximise the propulsive) force is particularly important in sprinters. To increase the velocity in races, swimmers increase their stroke frequency. However, experimental and simulation studies have revealed that there is a maximum frequency beyond which swimmers cannot further increase swimming velocity due to a change in the angle of attack of the hand that reduces its propulsive force. While the results of experimental and simulation studies are consistent regarding the effect of the arm actions on propulsion, the findings of investigations into the effect of the kicking motion are conflicting. Some studies have indicated a positive effect of kicking on propulsion at high swiW]; Ẇd Drag power (mechanical power needed to overcome drag) [W, Nm/s]; α Angle of attack of the palm plane with respect to the velocity vector of the hand [deg]; ηo Overall efficiency [%]; ηp Propelling efficiency [%]; MAD-system Measuring Active Drag system; MRT method Measuring Residual Thrust method.

The onset of cardiogenic cerebral embolism is sudden, dangerous, and often has high morbidity and mortality. Improving understanding of factors contributing to outcomes of cardiogenic cerebral embolism will improve prognostic and therapeutic capabilities.

Through PubMed and Google Scholar, this paper examined and analyzed the factors implicated in the outcome of patients with cardiogenic cerebral embolism using the key terms 'cardiogenic cerebral embolism', 'atrial fibrillation', 'stroke related diseases', 'collateral circulation', 'emboli profile', 'epigenetic' up to 28 February 2021. Full texts of the retrieved articles were accessed. In general, in these literatures, National Institute Health of Stroke Scale (NIHSS) score ≥ 17, modified Rankin Scale (mRS) score ≥ 2, stroke recurrence, death caused by stroke are regarded as the criteria of poor prognosis. As long as one of these conditions occurs, it is judged as poor prognosis.

Factors influencing patient outcomes including patient outcome include severity of neurological impairment, types and severity of combined heart diseases, establishment of cerebral collateral circulation, treatments, components of emboli causing cardiogenic cerebral embolism, existence and control of other system complications, distribution and expression of inflammatory immune cells and molecules in the course of cardiogenic cerebral embolism, and epigenetic changes related to disease prognosis.

Regarding to prevention and treatment of cardiogenic cerebral embolism, the related factors, such as clinical setting, emboli pathological profile, and epigenetic changes should be emphasized so that outcomes and recurrence of cardiogenic cerebral embolism can be improvised.

Regarding to prevention and treatment of cardiogenic cerebral embolism, the related factors, such as clinical setting, emboli pathological profile, and epigenetic changes should be emphasized so that outcomes and recurrence of cardiogenic cerebral embolism can be improvised.Muscle strength is an important predictor for function and mortality among older adults. see more We measured hand grip strength among 1442 participants aged 15+ years and carried out a 30 second chair stand test among 786 participants aged 55+ years. Neither test has been carried out among the Inuit before. We present reference values for men and women as means with standard deviations and medians with 10th, 25th, 75th and 90th percentiles. Hand grip strength was higher among men than among women (means 45.2 kg and 25.8 kg; p less then 0.0001), in linear regression analyses it increased with height (βmen = 0.69; βwomen = 0.46), weight (βmen = 0.24; βwomen = 0.08) and body mass index (βmen = 0.56; βwomen = 0.24), and decreased with age (βmen = -0.49; βwomen = -0.29) and Inuit genetic ancestry (βmen = -0.96; βwomen = -0.59). Chair stand score showed similar associations with sex (mean score for men and women 13.8 and 11.5; p less then 0.0001), age (βmen = -0.22; βwomen = -0.20) and Inuit genetic ancestry (βmen = -0.38; βwomen = -0.41). The hand grip strength of the Inuit was at the same level as in European and North American populations whereas chair stand score was lower than that of a mostly white US population.Items associated with high value are often better remembered. Value may increase attention toward item in context associations. Alpha oscillations (8-13 Hz) are thought to underlie attention and their observation may reveal the role attention plays in value-based memory. In the current study, EEG is used to record brain activity while participants (n = 30) completed a source recognition memory task where items were associated with either high or low value backgrounds to determine whether greater attentional resources are deployed when encoding high value information. Participants demonstrated better memory for objects associated with high value backgrounds. Alpha oscillatory power in occipital/temporal brain regions exhibited greater desynchronization when encoding objects associated with high value that were later successfully recalled compared to those associated with low value. In addition, beta oscillatory power in midfrontal brain regions exhibited greater desynchronization during successful recall of high value objects compared to low value objects.