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There is evidence that aerobic exercise improves brain health. Benefits may be modulated by acute physiological responses to exercise, but this has not been well characterized in older or cognitively impaired adults. The randomized controlled trial 'AEROBIC' (NCT04299308) enrolled 60 older adults who were cognitively healthy (n = 30) or cognitively impaired (n = 30) to characterize the acute brain responses to moderate [45-55% heart rate reserve (HRR)] and higher (65-75% HRR) intensity acute exercise. Each participant received two fluorodeoxyglucose positron emission tomography (FDG-PET) scans, one at rest and one following acute exercise. Change in cerebral glucose metabolism from rest to exercise was the primary outcome. Blood biomarker responses were also characterized as secondary outcomes. Whole grey matter FDG-PET standardized uptake value ratio (SUVR) differed between exercise (1.045 ± 0.082) and rest (0.985 ± 0.077) across subjects [Diff = -0.060, t(58) = 13.8, P < 0.001] regardless of diagnosis. Exercise increased lactate area under the curve (AUC) [F(1,56) = 161.99, P < 0.001] more in the higher intensity group [mean difference (MD) = 97.0 ± 50.8] than the moderate intensity group (MD = 40.3 ± 27.5; t = -5.252, P < 0.001). Change in lactate AUC and FDG-PET SUVR correlated significantly (R 2  = 0.179, P < 0.001). Acute exercise decreased whole grey matter cerebral glucose metabolism. This effect tracked with the systemic lactate response, suggesting that lactate may serve as a key brain fuel during exercise. Direct measurements of brain lactate metabolism in response to exercise are warranted. KEY POINTS: Acute exercise is associated with a drop in global brain glucose metabolism in both cognitively healthy older adults and those with Alzheimer's disease. Blood lactate levels increase following acute exercise. Change in brain metabolism tracks with blood lactate, suggesting it may be an important brain fuel. Acute exercise stimulates changes in brain-derived neurotrophic factor and other blood biomarkers., (© 2024 The Authors. The Journal of Physiology © 2024 The Physiological Society.)

It remains unclear whether recent changes in the prognosis and management of patients with trisomy 13 impact patient survival. We investigated changes in survival of patients with trisomy 13 in Japan. Data from the Vital Statistics Database in Japan was retrieved to examine the association of sex, surgical history, and years of birth and death with changes in survival patterns in 1164 patients with trisomy 13 between 1995 and 2021. The rates of deaths due to trisomy 13 increased from 9.8% to 23.1% in those over 1 year of age and from 7.3% to 19.2% in those within 24 h of birth between 1995 and 2021. The median survival time was longer in 2009-2021 than in 1996-2008 (40 vs. 84 days, p < 0.001). The median survival time and the rate of patients with surgical history increased from 91 days and 16.0% in 1996-2008 to 179 days and 28.0% in 2009-2021, respectively. Median survival time among patients with trisomy 13 has increased over the last 26 years, with almost 1 in 3 patients currently surviving for more than 1 year. The increased surgical intervention rate might have contributed to this improvement., (© 2024 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)

Background: Orofacial clefts (OFCs) are among the most common birth defects (BD). In 2008, a series of improvements began in the Costa Rican Birth Defect Register Center (CREC). We aim to explore trends between 1996 and 2021., Methods: A trend analysis of OFCs from 1996 to 2021 and a descriptive analysis of OFCs from 2010 to 2021 were performed based on data from the CREC, the national BD surveillance system. Prevalence at birth was calculated according to the type: cleft palate (CP), cleft lip with or without CP (CL ± P), and presentation (isolated, multiple non-syndromic, or syndromes). We used joinpoint regression to identify if a significant change in trend occurred; the average annual percent change (AAPC) was determined. Marginal means and prevalence ratios by subperiod (1996-2009 as referent and 2010-2021) were estimated using Poisson regression and compared using Wald's chi-square tests (α ≤.05)., Results: We found a significant AAPC for OFCs prevalence of +1.4: +0.6 for isolated, +2.9 for multiple non-syndromic, and +7.7 for syndromes (p < .05). When comparing the OFC's prevalence of the subperiod 2010-2021 (11.86 per 10,000) with 1996-2009 (9.36 per 10,000) the prevalence ratio was 1.3 (p < .01): 1.1 (p < .05) for isolated, 1.6 (p < .01) for multiple non-syndromic, and 3.3 (p < .01) for syndromes. The prevalence of OFCs from 2010 to 2021 was 9.1 for CL ± P and 2.8 for CP. Seventy-one percent of the OFCs were isolated, 22% multiple non-syndromic, and 7% syndromes., Conclusion: The trend in OFCs' prevalence is toward increasing, mainly due to improvements in the surveillance system., (© 2024 Wiley Periodicals LLC.)

Background: Hirschsprung's disease is a rare congenital anomaly of the colon with absence of the ganglionic nerve cells. The treatment of the anomaly is surgical., Methods: This population-based data-linkage cohort study was part of the EUROlinkCAT project and investigated mortality and morbidity for the first 5 years of life for European children diagnosed with Hirschsprung's disease. Nine population-based registries in five countries from the European surveillance of congenital anomalies network (EUROCAT) participated. Data on children born 1995-2014 and diagnosed with Hirschsprung's disease were linked to hospital databases. All analyses were adjusted for region and length of follow-up, which differed by registry., Results: The study included 680 children with Hirschsprung's disease. One-year survival was 97.7% (95% CI: 96.4-98.7). Overall, 85% (82-87) had a code for a specified intestinal surgery within the first year increasing to 92% (90-94) before age 5 years. The median age at the first intestinal surgery up to 5 years was 28 days (11-46) and the median number of intestinal surgical procedures was 3.5 (3.1-3.9). Thirty days mortality after neonatal surgery (within 28 days after birth) was 0.9% (0.2-2.5) for children with a code for intestinal surgery within the first 28 days after birth and there were no deaths for children with a code for stoma surgery in the neonatal period., Conclusion: Children with Hirschsprung's disease have a high morbidity in the first 5 years of life requiring more surgical procedures in addition to the initial surgery. Mortality after neonatal surgery is low., (© 2024 The Authors. Birth Defects Research published by Wiley Periodicals LLC.)

Objective: In 1991, the Medical Research Council (MRC) Vitamin Study demonstrated that folic acid taken before pregnancy and in early pregnancy reduced the risk of a neural tube defect (NTD). We aimed to estimate the number of NTD pregnancies that would have been prevented if flour had been fortified with folic acid in the UK from 1998 as it had been in the USA.Design: Estimates of NTD prevalence, the preventive effect of folic acid and the proportion of women taking folic acid supplements before pregnancy were used to predict the number of NTD pregnancies that would have been prevented if folic acid fortification had been implemented.Setting: Eight congenital anomaly registers in England and Wales.Main Outcome Measures: The prevalence of pregnancies with an NTD in the UK and the number of these pregnancies that would have been prevented if folic acid fortification had been implemented.Results: From 1991 to 2012, the prevalence of NTD pregnancies was 1.28 (95% CI 1.24 to 1.31) per 1000 total births (19% live births, 81% terminations and 0.5% stillbirths and fetal deaths ≥20 weeks' gestation). If the USA levels of folic acid fortification from 1998 onwards had been adopted in the UK, an estimated 2014 fewer NTD pregnancies would have occurred.Conclusions: Failure to implement folic acid fortification in the UK has caused, and continues to cause, avoidable terminations of pregnancy, stillbirths, neonatal deaths and permanent serious disability in surviving children. [ABSTRACT FROM AUTHOR]

Background: Precise and correct classification of congenital anomalies is important in epidemiological studies, not only to classify according to etiology but also to group similar congenital anomalies together, to create homogeneous subgroups for surveillance and research. This paper presents the updated EUROCAT (European surveillance of congenital anomalies) subgroups of congenital anomalies and the updated multiple congenital anomaly (MCA) algorithm and provides the underlying arguments for the revisions., Methods: The EUROCAT methodology is described. In addition, we show how we validated the revised EUROCAT subgroups and MCA algorithm, which are both based on the International Classification of Diseases (ICD10/ICD9) codes., Results: The updated EUROCAT subgroups and the updated MCA algorithm are described in detail and the updated version is compared to the previous versions., Conclusion: The EUROCAT subgroups and MCA algorithm provide a standardized and clear methodology for congenital anomaly research and epidemiological surveillance of congenital anomalies in order to facilitate the identification of teratogenic exposures and to assess the impact of primary prevention and prenatal screening policies. The EUROCAT subgroups and MCA algorithm are made freely available for other researchers via the EUROCAT Database Management Software., (© 2024 The Authors. Birth Defects Research published by Wiley Periodicals LLC.)

Mortality in individuals with trisomy 18 has significantly decreased over the past 20 years, but there is scant literature addressing the prognosis and cause of death in individuals with trisomy 18 and survival past the first year of life (YOL). This study analyzed factors associated with mortality and cause of death in a retrospective cohort of 174 individuals with trisomy 18 and survival past the first YOL, the largest such series to date. Data were collected via retrospective survey of parents of affected individuals. Prenatal diagnosis of trisomy 18; postnatal respiratory distress; maternal age > 35 years; birthweight <2000 g; brain and spinal cord defect(s); atrial and/or ventricular septal defect(s); inability to feed orally without medical assistance; and failure to meet sitting and rolling milestones were associated with mortality in this sample. Cause of death was compared between our cohort of individuals with trisomy 18 and existing literature on those with mortality before the first YOL. Individuals with trisomy 18 with mortality after the first YOL demonstrated a predominance of infectious (n = 10/22) and postoperative (n = 6/22) contributing causes of death, in contrast to the existing literature, which shows a predominance of cardiopulmonary causes of death (e.g., cardiopulmonary arrest, pulmonary hypertension). These findings demonstrate that individuals with trisomy 18 and survival past the first YOL have unique medical needs, but further research is needed to develop clinical guidelines for this growing population., (© 2023 Wiley Periodicals LLC.)

In this retrospective cohort study, we investigated the impact of tracheostomies on the long-term survival of children with trisomy 13 syndrome at a Japanese tertiary pediatric center. We compared survival and survival to discharge rates between patients who underwent tracheostomies during their NICU stays (T group, n = 8) and those who did not (non-T group, n = 11). A total of 19 patients enrolled. Median survival in all patients was 673 (266-1535) days. Significant differences in the 1-, 2-, and 3-year survival rates were found between the T and the non-T groups (100% vs. 46%, p = 0.018; 88% vs. 18%, p = 0.006; 63% vs. 9%, p = 0.041, respectively). The survival to discharge rate was higher in the T versus non-T group (75% vs. 45%, p = 0.352). This study highlights a significantly higher long-term survival of patients with trisomy 13 syndrome who underwent tracheostomies during their NICU stays., (© 2023 Wiley Periodicals LLC.)

Abstract Why are certain organization design arrangements enacted in a project-based organization? Building on extant literature, this article addresses this fundamental question by explicating three distinct explanations of the raison d’etre of salient organization design arrangements: Functional, Legitimacy, and Agency. Conceiving these explanations as coexisting, interacting logics of organizing, the article argues to draw upon the powerful concept of logic multiplicity to pave the way for integrating diverse theoretical perspectives. Thus, the article contributes to the organization design stream of research in project studies by developing a typology of organization design logics and proposing a way forward for pursuing pluralistic theorizing. [ABSTRACT FROM AUTHOR]

Abstract Prior research has indicated that knowledge integration is essential for succeeding with large-scale transformation (LST) projects. However, research has largely ignored the processual properties of knowledge integration. This article embarks on the notion of knowledge entrainment and demonstrates the criticality of the processual nature of knowledge integration. Through a comparative qualitative case study of two LST projects in the healthcare sector, two knowledge entrainment strategies were identified (the evidence-based strategy and the innovation-based strategy). Data analysis uncovered triggers, practices, and outcomes of the two knowledge entrainment strategies. Additionally, the central role of temporary project management offices (PMOs) for arranging knowledge entrainment within the LST projects is demonstrated. [ABSTRACT FROM AUTHOR]

Fetal anomalies among young women and adolescents pose major public health concerns. This systematic review aims to elucidate the relationship between young maternal age and the incidence of fetal abnormalities. According to the systematic review and meta-analysis PRISMA protocol, cohort, cross-sectional and case–control studies were scrutinized to include 80,393,450 participants across diverse regions. The meta-analysis utilized Odds Ratios (OR) as the effect measure, adopting a random-effects model. The screening process involved 157 selected and verified manuscripts, which ultimately resulted in the final inclusion of 20 studied in the meta-analysis. The criterion for young maternal age was the age of ≤ 20 years. The meta-analysis revealed a pooled OR of 0.93 (95% CI: 0.82–1.05, p = 0.252), indicating no statistically significant association between young maternal age (≤ 20 years) and fetal anomalies. However, considerable heterogeneity (I² = 96.21%) was noted, prompting the use of a random-effects model to derive the reported results. The meta-analysis did not find statistically significant differences in the occurrence of congenital anomalies in fetuses of younger women than in overall population. Although due to significant heterogeneity of the analyzed studies, and a risk of bias, caution should be exercised when interpreting the results, further investigation may be warranted to understand the relationship between maternal age and risk of fetal anomalies. Nevertheless, the study shows significant differences, which diminish in collective analysis, suggests that factors beyond age may be influential. Specifically, the limited access to or quality of healthcare in certain regions could be a more critical factor than maternal age itself. [ABSTRACT FROM AUTHOR]

Background: Mild cognitive impairment (MCI) represents a prodromal stage of dementia, characterized by cognitive decline exceeding that expected with normal aging. Exercise interventions have emerged as a promising approach to counter functional decline and enhance cognitive function in the elderly MCI population. However, the optimal exercise modalities and dosage (doseresponse relationship) are understudied. Objective: It aims to determine the most effective exercise modality for MCI patients by optimizing the dose-response relationship to ensure sufficient intensity to induce positive neurological adaptations. Methods: A systematic search of electronic databases, including PubMed, Embase, Scopus, Web of Science, and Cochrane Central Register of Controlled Trials was conducted from inception to April 15, 2024. Studies evaluating the efficacy of exercise interventions in MCI participants were included. Primary outcomes of interest are global cognition and executive function. Randomeffects models will be utilized for both pairwise and network meta-analysis. Results: Following the application of specific inclusion and exclusion criteria, a total of 42 articles, encompassing 2832 participants, were chosen for inclusion in a network meta-analysis. The findings revealed that multi-component exercise demonstrated superior efficacy in mitigating the deterioration of global cognition, as evidenced by standard mean differences (SMDs) of 1.09 (95% CI: 0.68 to 1.51) compared to passive controls. Additionally, multi-component exercise exhibited a significant impact on executive function, with SMDs of 2.50 (95% CI: 0.88 to 4.12) when contrasted with passive controls. Our research has demonstrated that sessions lasting 30 minutes, occurring 3-4 times per week, with interventions lasting 12-24 weeks and an intensity of 60-85% of maximum heart rate, yield higher effect sizes in improving global cognition. However, sessions lasting 30-61 minutes, with interventions lasting 25 weeks or longer, show greater effectiveness in enhancing executive function. Conclusion: A network meta-analysis identified multi-component exercise as the most effective intervention for improving global cognitive and executive function in patients with mild cognitive impairment. Notably, moderate-intensity exercise performed at least three times weekly appears beneficial, with evidence suggesting shorter sessions and higher frequencies may optimize cognitive outcomes. [ABSTRACT FROM AUTHOR]

Subarachnoid hemorrhage (SAH) is a severe subtype of hemorrhagic stroke. The molecular mechanisms of its secondary brain damage remain obscure. To investigate the alterations in gene and metabolite levels following SAH, we construct the transcriptome and metabolome profiles of the rat cerebral cortex post-SAH using whole transcriptome sequencing and untargeted metabolomics assays. Transcriptomic analysis indicated that there were 982 differentially expressed genes (DEGs) and 540 differentially expressed metabolites (DEMs) between the sham group and SAH 1d, and 292 DEGs and 254 DEMs between SAH 1d and SAH 7d. Most notably, DEGs were predominantly involved in the activation of immune and inflammatory pathways, particularly the Complement and coagulation cascades, TNF signaling pathway, and NOD-like receptor signaling pathway. Metabolic analysis revealed that the metabolic pathways of Arginine and proline, Arachidonic acid, Folate biosynthesis, Pyrimidine, and Cysteine and methionine were remarkably affected after SAH. Metabolites of the above pathways are closely associated not only with immune inflammation but also with oxidative stress, endothelial cell damage, and blood-brain barrier disruption. This study provides new insights into the underlying pathologic mechanisms of secondary brain injury after SAH and further characterization of these aberrant signals could enable their application as potential therapeutic targets for SAH. [ABSTRACT FROM AUTHOR]

Introduction: Human epidemiological studies suggest that heavy alcohol consumption may lead to earlier onset of Alzheimer's Disease (AD), especially in individuals with a genetic predisposition for AD. Alcohol-related brain damage (ARBD) during a critical developmental timepoint, such as adolescence, interacts with AD-related pathologies to accelerate disease progression later in life. The current study investigates if voluntary exercise in mid-adulthood can recover memory deficits caused by the interactions between adolescence ethanol exposure and AD-transgenes. Methods: Male and female TgF344-AD and wildtype F344 rats were exposed to an intragastric gavage of water (control) or 5 g/kg of 20% ethanol (adolescent intermittent ethanol; AIE) for a 2 day on/off schedule throughout adolescence (PD27-57). At 6 months old, rats either remained in their home cage (stationary) or were placed in a voluntary wheel running apparatus for 4 weeks and then underwent several behavioral tests. The number of cholinergic neurons in the basal forebrain and measure of neurogenesis in the hippocampus were assessed. Results: Voluntary wheel running recovers spatial working memory deficits selectively in female TgF344-AD rats exposed to AIE and improves pattern separation impairment seen in control TgF344-AD female rats. There were sexdependent effects on brain pathology: Exercise improves the integration of recently born neurons in AIE-exposed TgF344-AD female rats. Exercise led to a decrease in amyloid burden in the hippocampus and entorhinal cortex, but only in male AIE-exposed TgF344-AD rats. Although the number of basal forebrain cholinergic neurons was not affected by AD-transgenes in either sex, AIE did reduce the number of basal forebrain cholinergic neurons in female rats. Discussion: These data provide support that even after symptom onset, AIE and AD related cognitive decline and associated neuropathologies can be rescued with exercise in unique sex-specific ways. [ABSTRACT FROM AUTHOR]

Purpose: The aim of this paper was to identify the determinants of human resources management (HRM) risk in district public hospitals (PSP) and to estimate the impact of macroenvironmental factors on HRM risk. Design/methodology/approach: The research process was carried out in two ways. Firstly, a critical analysis of the literature of an integrative nature was performed. Secondly, the empirical research used a qualitative approach using a multiple case study strategy and survey research conducted in selected PSPs. Findings: The distribution of the indicator values is characterized by relatively high left-sided skewness, which means that most of the values of this indicator have a value higher than the average. Moreover, taking into account the fact that each of the partial measures included in the construction of the Indicator-Macro was assessed on a 4-point scale, it can be concluded that this indicator has an average value at a relatively high level (2.52). Taking into account the average value of the Indicator-Macro (2.52), it can be assumed that there is a high level of influence of macroenvironmental factors on HRM risk, which confirms the truthfulness of the formulated hypothesis. Research limitations/implications: There is a need for further broad research in this problem, in order to compare different hospitals in different regions of the country. Practical implications: It was emphasized that there are difficulties in achieving the goals of public hospitals experiencing a shortage of medical staff, therefore this area should receive special care by the management staff of these entities, as well as decision-makers in the health care system. Social implications: The factors indicated by the respondents were also confirmed in the literature, where both the problem of staff shortages and the relatively low valuation of medical services have been raised for years. Therefore these factors strongly influence health care quality and should be monitored carefully. Originality/value: The obtained research results fill the theoretical gap in the identification of HRM risk determinants in organizations, with particular emphasis on district public hospitals. [ABSTRACT FROM AUTHOR]

Background: Cognitive impairment is a prevalent complication of type 2 diabetes, influenced significantly by various dietary patterns. High-carbohydrate diets (HCDs) are commonly consumed nowadays; however, the specific impact of HCDs on cognitive function in diabetes remains unclear. Methods: The objective of this study was to investigate whether an HCD has effects on cognition in diabetes. Eight-week-old diabetic (db/db) mice and wild-type (WT) mice underwent a twelve-week dietary intervention, including a normal diet (ND), an HCD, or a high-fat diet (HFD). Following this, behavioral tests were conducted, and related hippocampal pathology was evaluated. Results: Our results demonstrated that an HCD exacerbated cognitive decline in db/db mice compared to an ND. Additionally, an HCD increased amyloid-β burden and expression of β-site APP cleaving enzyme-1. An HCD was also found to promote the phosphorylation of tau protein via the PI3K/Akt/GSK-3β pathway. Furthermore, an HCD markedly induced neuroinflammation and increased the quantity of microglia and astrocytes. However, these damages induced by an HCD were less severe than those caused by an HFD. Conclusions: Collectively, our findings indicate that a high intake of carbohydrates can have an adverse impact on cognitive function in diabetes. [ABSTRACT FROM AUTHOR]

This study aimed to examine the impact of employment transitions (ETs) on anthropometric changes among middle-aged and older workers (ages 45y+). Using two waves of data from the Canadian Longitudinal Study on Aging, we analyzed the impact of ETs (stayed working, entered retirement, and stopped working) on change in body weight and waist circumference (WC) on continuous scales as well as categories (≥5% cut-off). Analyses were sex/gender-stratified. Women did not show significant weight or WC change that differed across ETs, but estimated directions suggested those who stopped working were more likely to have ≥5% change in weight. Estimated directions of continuous outcomes for women who stopped working relative to continued workers showed less weight gain and more WC gain. Men who retired gained less weight and had smaller WC gain compared to reference. The findings imply that the short-run impact of exiting the labor force may not exacerbate weight gain. [ABSTRACT FROM AUTHOR]

Abstract We present a novel framework to assess 27 earned value management system (EVMS) environment factors and investigate their impact on project performance. A study of the EVMS literature, a survey of practitioners, and focus group meetings with 36 EVMS industry and government experts, supported the development of the framework. Focus groups involving 80 practitioners refined and tested it. We analyzed performance data from 35 completed projects/programs representing over US$21.8 billion in total cost; a project demonstrating a positive environment could save up to 25% in cost versus baseline. Practitioners can develop an effective EVMS environment by following the provided guidance. [ABSTRACT FROM AUTHOR]

Background: We aimed to analyze the prevalence and trend of birth defects (BDs) in Costa Rica, where BDs are the second leading cause of infant and under-five mortality., Methods: A descriptive analysis of selected BDs prevalence and trends from 2000 to 2019 was performed, based on data from the Costa Rican Birth Defects Register Center, the national BDs surveillance system with coverage of 98% of live births in the country. We used Joinpoint regression to identify any calendar year where a significant change in trend occurred; the annual percent change (APC) and the average annual percent change (AAPC) were determined. Marginal means and prevalence ratios by subperiod (2000-2009 as referent and 2010-2019) were estimated using Poisson regression, and compared using Wald's chi-square tests (alpha ≤0.05)., Results: From 2000 to 2019, BDs occurred in 2.3% of live births (95% CI: 2.3-2.4); 73% of which were major BDs. Males presented a significantly higher prevalence (sex ratio 1.13 males/females). The trend showed an AAPC of +3.7 (p < .05) with two joinpoints, 2005 and 2013. A significant APC (+11.3) was observed during 2005-2013, within the context of improvements in the surveillance system, such as the increase in the reporting age, and the incorporation of other data sources in addition to maternity hospitals. Most of the BDs groups presented a significant upward trend. The highest AAPC was observed for the respiratory system (+11.7), congenital heart defects (+9.5), and nervous system (+8.5)., Conclusions: The BDs present a clear upward trend in the last two decades due, among other things, to a significant improvement in the surveillance system., (© 2023 Wiley Periodicals LLC.)

Background: Turner syndrome is a rare congenital anomaly caused by complete or partial X chromosome monosomy that may affect mortality and morbidity in childhood., Methods: This population-based data-linkage cohort study, as part of the EUROlinkCAT project, investigated mortality and morbidity for the first 5 years of life for liveborn European children diagnosed with Turner syndrome. Thirteen population-based registries in 10 countries from the European surveillance of congenital anomalies (EUROCAT) network participated. Data on children born 1995-2014 and diagnosed with Turner syndrome were linked to mortality, hospital and prescription records. Children with any congenital anomaly and children without a congenital anomaly were included for comparison on morbidity., Results: Out of a population of 5.8 million livebirths 404 were diagnosed with Turner syndrome prenatally or in infancy and 95.5% survived to their fifth birthday. During the first year of life 72.3% (95% CI 59.5;81.6) of children with Turner syndrome were hospitalized, the median length of stay was 5.6 days (95% CI 3.5;7.7) and 18.7% (95% CI 13.9;23.9) underwent surgery. After the first year of life hospitalizations and length of stay decreased but more children underwent surgery (30.8% [95% CI 17.6;44.7]). In the first 5 years the percentage of children with Turner syndrome having a prescription for antibiotics was 12%-20% per year and increased with the age of child., Conclusions: In the first year of life, the burden of disease was relatively high for children with Turner syndrome. The outlook is more positive beyond the first year, though overall morbidity still exceeded that of children without congenital anomalies., (© 2023 The Authors. Birth Defects Research published by Wiley Periodicals LLC.)

Background and Purpose. Physical exercise (PE) is a well‐recognized means of ameliorating the burden of morbidity that is associated with aging. However, the specific components of exercise programs, and health outcomes that are of benefit, are less consistently agreed upon. Further, it is not evident if those who are not considered to be healthy benefit from the same exercise as those who are. In this systematic review, we collated evidence with the aim of determining if exercise needs to be tailored to suit the needs of those who are frail compared to those who are healthy. Methods. All English studies published after 1989 with a controlled design, investigating PE in adults 65 years and over were considered if the study design compared PE to a nonexercise control group. Health‐related outcomes included physical, cognitive, and psychological function. Studies that investigated cardiorespiratory disease and used designs like systematic review were excluded. Results and Discussion. Altogether, 57 studies were included of which 38 had data that were useable for meta‐analysis. In the healthy aged, a significant benefit of multicomponent exercises (p = 0.006, SMD = 1.40, CI = 0.41, 2.40) and tai chi (p = 0.01, MD = 0.51, CI = 0.12, 0.91) on physical function was revealed, while strength exercise benefitted cognitive function (p = 0.04, SMD = 0.86, CI = 0.03, 1.68). In frail older adults, there was a significant benefit of multicomponent exercises on physical function (p < 0.0001, SMD = −10.85, CI = 5.66, 16.04) and mental health (p = 0.0002, SMD = −0.39, CI=‐0.18, 0.59). Strength exercise had a significant benefit on activity of daily living (ADL) (p < 0.0003, SMD = 15.78, CI = 7.28, 24.28). Conclusion. The substantial disparity of research in the field of exercise in older adults renders synthesis of the evidence problematic. However, it appears that multicomponent exercise is the most suitable approach for both healthy and frail older adults although the benefit may be reflected in different health outcomes. [ABSTRACT FROM AUTHOR]

Familial amyotrophic lateral sclerosis (ALS) is a progressive neuromuscular disorder that is due tomutations in one of several target genes, including SOD1. So far, clinical records, rodent studies, and in vitro models have yielded arguments for either a primary motor neuron disease, or a pleiotropic pathogenesis of ALS. While mouse models lack the human origin, in vitromodels using human induced pluripotent stem cells (hiPSC) have been recently developed for addressing ALS pathogenesis. In spite of improvements regarding the generation ofmuscle cells fromhiPSC, the degree of maturation ofmuscle cells resulting fromthese protocols has remained limited. To fill these shortcomings, we here present a new protocol for an enhanced myotube differentiation fromhiPSC with the option of furthermaturation upon coculture with hiPSC-derived motor neurons. The described model is the first to yield a combination of key myogenic maturation features that are consistent sarcomeric organization in association with complex nAChR clusters in myotubes derived from control hiPSC. In this model, myotubes derived from hiPSC carrying the SOD1 D90A mutation had reduced expression of myogenic markers, lack of sarcomeres, morphologically different nAChR clusters, and an altered nAChR-dependent Ca2+ response compared to control myotubes. Notably, trophic support provided by control hiPSC-derived motor neurons reduced nAChR cluster differences between control and SOD1 D90A myotubes. In summary, a novel hiPSC-derived neuromuscular model yields evidence for both muscle-intrinsic and nerve-dependent aspects of neuromuscular dysfunction in SOD1-based ALS. [ABSTRACT FROM AUTHOR]

One of the most important health problems worldwide is the increase in pathogenic microorganisms resistant to a variety of antimicrobial materials. In this study, the antibacterial properties of biosynthesized Ag/AgCl Nanoparticles (Ag NPs) by Satureja hortensis leaf extract under different gamma ray doses were compared. Biosynthesis of Ag NPs was performed by leaf extract of S. hortensis grown from seeds exposed to different gamma ray doses (0, 15, 30, 60 and 90 gray). Formation of Ag NPs confirmed by UV-Visible spectroscopy and X-ray diffraction (XRD) methods.The biosynthesized nanoparticles were characterized using Dynamic Light Scattering (DLS), Field Emission Scanning Electron Microscope (FESEM) and Energy Dispersive X-ray analysis (EDAX).The functional groups of the biomolecules involved in the process were identified using Fourier Transform Infrared Spectroscopy (FTIR) and antibacterial properties of the biosynthesized Ag NPs were performed by disc diffusion method. The highest antibacterial property of the biosynthesized Ag NPs was related to 15 gray dose of gamma radiation with mean diameter of the nanoparticles about 40.02 nm in size and zone of inhibition about 13 mm in diameter against Escherichia coli and the lowest was observed in treatment 90 gray with mean diameter about 170.62 nm in size and zone of inhibition about 10 mm in diameter against the same bacteria. Biosynthesized Ag NPs using S. hortensis extract under 15 gray dose of gamma irradiation revealed the highest antibacterial properties against Bacillus subtilis and especially Escherichia coli. The high biocompatibility of these biogenic nanoparticles makes them a suitable alternative to similar materials synthesized by non-biological methods. [ABSTRACT FROM AUTHOR]

Background: Few studies have explored the feasibility of online language interventions for young children with Down syndrome. Additionally, none have manipulated dose frequency or reported on the use of music as a medium through which language and sign can be learned. Purpose: The purpose of this study was to (a) examine the feasibility and acceptability of an online language through music intervention for young children (1-3;6 years) with Down syndrome and (b) compare effectiveness at two intervention dose frequencies. Method: The study was carried out in two phases using a mixed-methods design. Phase 1: Qualitative data were gathered from parents to examine feasibility when implementing a video-based language intervention. Phase 2: Seventy-six families participated in an online language intervention at home. Effectiveness was examined comparing two groups, randomly assigned to a high and low dose frequency. The Down Syndrome Education (DSE) checklists (combined) were the primary outcome measure. Process data were gathered to determine intervention acceptability in practice and to identify factors that would improve successful future implementation. Acceptability data were analyzed with reference to the theoretical framework of acceptability (Version 2). Results: Forty-three parents completed the Phase 1 scoping questionnaire, five of whom took part in focus groups. Once weekly morning sessions were indicated as the preferred scheduling choice. Phase 2 quantitative data were analyzed using beta regression adjusted for baseline scores and indicated no additional benefit to receiving the higher dose. However, exploratory interaction models suggested that the efficacy of the high-dose intervention was higher (than low-dose intervention) in participants with higher baseline DSE performance. Parents perceived the intervention to be effective and positive for the family. Conclusion: The results add to our knowledge of real-world effective online interventions and suggest that a critical minimum language level is required for children with Down syndrome to benefit optimally from a higher intervention dose frequency. [ABSTRACT FROM AUTHOR]

Observational studies have suggested that the use of antihypertensive drugs was associated with the risk of frailty; however, these findings may be biased by confounding and reverse causality. This study aimed to explore the effect of genetically predicted lifelong lowering blood pressure (BP) through different antihypertensive medications on frailty. One‐sample Mendelian randomization (MR) and summary data‐based MR (SMR) were applied. We utilized two kinds of genetic instruments to proxy the antihypertensive medications, including genetic variants within or nearby drugs target genes associated with systolic/diastolic BP, and expression level of the corresponding gene. Among 298,618 UK Biobank participants, one‐sample MR analysis observed that genetically proxied BB use (relative risk ratios, 0.76; 95% CI, 0.65–0.90; p = 0.001) and CCB use (0.83; 0.72–0.95; p = 0.007), equivalent to a 10‐mm Hg reduction in systolic BP, was significantly associated with lower risk of pre‐frailty. In addition, although not statistically significant, the effect directions of systolic BP through ACEi variants (0.72; 0.39–1.33; p = 0.296) or thiazides variants (0.74; 0.53–1.03; p = 0.072) on pre‐frailty were also protective. Similar results were obtained in analyses for diastolic BP. SMR of expression in artery showed that decreased expression level of KCNH2, a target gene of BBs, was associated with lower frailty index (beta −0.02, p = 2.87 × 10−4). This MR analysis found evidence that the use of BBs and CCBs was potentially associated with reduced frailty risk in the general population, and identified KCNH2 as a promising target for further clinical trials to prevent manifestations of frailty. [ABSTRACT FROM AUTHOR]

One of the more important factors responsible for synaptic dysfunction of neurons is neurological ageing. It is a natural consequence of occurrence of biochemical pathways in cells, promoting oxidation processes, an increase in the amount of free oxygen radicals that damage DNA, disorders in calcium ion homeostasis, interactions between lipids of cell membranes, formation of neurofibrillary tangles and deposition of toxic protein deposits. Diet modifications can delay neurometabolic disorders that occur as a result of ageing, as well as limit the development of neurodegenerative diseases. The aim of this study on rats was to verify the hypothesis regarding the effect of dietary addition of copper nanoparticles (CuNPs; instead of standard CuCO3) in combination with various dietary fibers on changes in hippocampus and jejunum biochemical parameters related to metabolic disorders appearing with neurological ageing in rats. Male rats were fed a control diet with fiber α-cellulose and a standard or enhanced content of Cu provided as CuCO3 (6.5 or 13 mg/kg diet). The diets of other groups were deprived of CuCO3 and the animals were fed diets supplemented with two CuNPs aforementioned doses, and additionally combined with four different types of dietary fiber: α-cellulose (control fiber), pectin, inulin or psyllium (Plantago psyllium). The addition of dietary CuNPs increased the level of acetylcholinesterase (AChE) and decreased the levels of Tau protein, glycosylated AChE (GAChE) and Ca/calmodulin dependent protein kinase II alpha (CAMK2α) in the examined organs. To sum up, both applied doses of CuNPs, 6.5 mg and 13 mg per kg of a diet, can beneficially modulate some important parameters describing metabolic and neurodevelopmental status in the hippocampal and small intestinal tissue of rats. With regard to the fiber type added to rats' diet, the Plantago psyllium fiber strengthened the mentioned effects of copper nanoparticles. The observed effects should be confirmed in a model study of neurodegeneration. [ABSTRACT FROM AUTHOR]

Background: One-carbon metabolism coenzymes may influence brain aging in cognitively unimpaired adults. Methods: Baseline data were used from the UK Biobank cohort. Estimated intake of vitamin B6, B12, and folate was regressed onto neural network functional connectivity in five resting-state neural networks. Linear mixed models tested coenzyme main effects and interactions with Alzheimer’s disease (AD) risk factors. Results: Increased B6 and B12 estimated intake were linked with less functional connectivity in most networks, including the posterior portion of the Default Mode Network. Conversely, higher folate was related to more connectivity in similar networks. AD family history modulated these associations: Increased estimated intake was positively associated with stronger connectivity in the Primary Visual Network and Posterior Default Mode Network in participants with an AD family history. In contrast, increased vitamin B12 estimated intake was associated with less connectivity in the Primary Visual Network and the Cerebello– Thalamo–Cortical Network in those without an AD family history. Conclusions: The differential patterns of association between B vitamins and resting-state brain activity may be important in understanding AD-related changes in the brain. Notably, AD family history appears to play a key role in modulating these relationships. [ABSTRACT FROM AUTHOR]

Background/Objectives: Orofacial clefts (OFCs) are some of the most common congenital anomalies worldwide. The aim of this case–control study was to evaluate the association of OFCs with selected maternal characteristics. Methods: Data on isolated non-syndromic cases of OFCs were extracted from the population-based registry of congenital anomalies of Tuscany. A sample of live-born infants without any congenital anomaly was used as the control group. We investigated the association with sex and some maternal characteristics: age, body mass index, smoking, and education. Adjusted odds ratios (OR) were calculated using a logistic regression model. Analyses were performed for the total OFCs and separately for cleft lip (CL) and cleft palate (CP). Results: Data on 219 cases and 37,988 controls were analyzed. A higher proportion of males (57.9%) was observed, particularly for CL. A decreasing trend among the maternal age classes was observed (OR:0.81 (95%CI 0.70–0.94)). Underweight mothers had a higher prevalence of OFCs, in particular for CL (OR:1.88 (95%CI 1.08–3.26)). Conclusions: We found an association of OFCs with lower maternal age. The association with maternal age remains controversial and further epidemiological evidence is needed through multicenter studies. We observed that CL was more common in underweight mothers, suggesting actions of primary prevention. [ABSTRACT FROM AUTHOR]

Background: Uncontrolled blood pressure is a major risk factor for cardiovascular diseases. Fixed-dose combination (FDC) therapy offers a promising approach to addressing this challenge by providing a convenient single-tablet solution that enhances the effectiveness of blood pressure control. In our systematic review, we assess the effectiveness of perindopril/amlodipine FDC in managing blood pressure. Methods: We conducted a comprehensive search across four primary electronic databases, namely, PubMed, Virtual Health Library (VHL), Global Health Library (GHL), and Google Scholar, as of 8 February 2022. Additionally, we performed a manual search to find relevant articles. The quality of the selected articles was evaluated using the Study Quality Assessment Tools (SQAT) checklist from the National Institute of Health and the ROB2 tool from Cochrane. Results: Our systematic review included 17 eligible articles. The findings show that the use of perindopril/amlodipine FDC significantly lowers blood pressure and enhances the quality of blood pressure control. Compared to the comparison group, the perindopril/amlodipine combination tablet resulted in a higher rate of blood pressure response and normalization. Importantly, perindopril/amlodipine FDC contributes to improved patient adherence with minimal side effects. However, studies conducted to date have not provided assessments of the cost-effectiveness of perindopril/amlodipine FDC. Conclusion: In summary, our analysis confirms the effectiveness of perindopril/amlodipine FDC in lowering blood pressure, with combination therapy outperforming monotherapy and placebo. Although mild adverse reactions were observed in a small subset of participants, cost-effectiveness assessments for this treatment remain lacking in the literature. [ABSTRACT FROM AUTHOR]