Rodriguezmunck2304

The applications of this method on the biofunctionalization of microrobots and cell scaffolds are also demonstrated.Even if the predominant model of science communication with the public is now based on dialogue, many experts still adhere to the outdated deficit model of informing the public.Several Mendelian disorders follow an autosomal recessive inheritance pattern. Epidemiological information on many inherited disorders may be useful to guide health policies for rare diseases, but it is often inadequate, particularly in developing countries. We aimed to calculate the carrier frequencies of rare autosomal recessive Mendelian diseases in a cohort of Brazilian patients using whole exome sequencing (WES). We reviewed the molecular findings of WES from 320 symptomatic patients who had carrier status for recessive diseases. Using the Hardy-Weinberg equation, we estimated recessive disease frequencies (q2 ) considering the respective carrier frequencies (2pq) observed in our study. We calculated the sensitivity of carrier screening tests based on lists of genes from five different clinical laboratories that offer them in Brazil. A total of 425 occurrences of 351 rare variants were reported in 278 different genes from 230 patients (71.9%). Almost half (48.8%) were carriers of at least one heterozygous pathogenic/likely pathogenic variant for rare metabolic disorders, while 25.9% of epilepsy, 18.1% of intellectual disabilities, 15.6% of skeletal disorders, 10.9% immune disorders, and 9.1% of hearing loss. We estimated that an average of 67% of the variants would not have been detected by carrier screening panels. The combined frequencies of autosomal recessive diseases were estimated to be 26.39/10,000 (or ~0.26%). This study shows the potential research utility of WES to determine carrier status, which may be a possible strategy to evaluate the clinical and social burden of recessive diseases at the population level and guide the optimization of carrier screening panels.Coronaviruses are constantly circulating in humans, causing common colds and mild respiratory infections. In contrast, infection with the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), responsible for coronavirus disease-2019 (COVID-19), can cause additional severe complications, particularly in patients with obesity and associated metabolic disturbances. Obesity is a principal causative factor in the development of the metabolic syndrome; a series of physiological, biochemical, clinical, and metabolic factors that increase the risk of obesity-associated diseases. "Metabolically unhealthy" obesity is, in addition to metabolic disturbances, also associated with immunological disturbances. As such, patients with obesity are more prone to develop serious complications from infections, including those from SARS-CoV-2. In this review, we first describe how obesity and related metabolic disturbances increase the risk of SARS-CoV-2 infection. Then, mechanisms contributing to COVID-19 complications and poor prognosis in these patients are discussed. Finally, we discuss how obesity potentially reduces long-term COVID-19 vaccination efficacy. Despite encouraging COVID-19 vaccination results in patients with obesity and related metabolic disturbances in the short-term, it is becoming increasingly evident that long-term COVID-19 vaccination efficacy should be closely monitored in this vulnerable group.Artificial refuges are human-made structures that aim to create safe places for animals to breed, hibernate, or take shelter in lieu of natural refuges. Artificial refuges are used across the globe to mitigate the impacts of a variety of threats on wildlife, such as habitat loss and degradation. However, there is little understanding of the science underpinning artificial refuges, and what comprises best practice for artificial refuge design and implementation for wildlife conservation. We address this gap by undertaking a systematic review of the current state of artificial refuge research for the conservation of wildlife. We identified 224 studies of artificial refuges being implemented in the field to conserve wildlife species. The current literature on artificial refuges is dominated by studies of arboreal species, primarily birds and bats. Threatening processes addressed by artificial refuges were biological resource use (26%), invasive or problematic species (20%), and agriculture (15%), yet few studies. We outline a series of key steps in the design, implementation, and monitoring of artificial refuges that are required to avoid perverse outcomes and maximise the chances of achieving conservation objectives. This review highlights a clear need for increased rigour in studies of artificial refuges if they are to play an important role in wildlife conservation.Although nonalcoholic fatty liver disease (NAFLD) is known to be a risk factor for cardiovascular diseases, few studies have reported an association between ectopic fat deposition and metabolic complications, including hypertension, in children with NAFLD. check details The present study evaluated the risk factors for hypertension in children with NAFLD from the aspect of ectopic fat. This cross-sectional retrospective study investigated 65 children with NAFLD (49 boys, mean age 13.0 ± 3.2 years, mean body mass index z-score [BMI-z] 2.5 ± 1.2), who underwent liver biopsy and magnetic resonance imaging-based fat fraction measurement for ectopic hepatic and pancreatic fats, as well as anthropometry, blood pressure, laboratory tests, and body composition analysis. A logistic regression model was used to identify the risk factors for hypertension. Through a simple logistic regression analysis, age (OR 1.392), BMI-z (OR 3.971), waist circumference-to-height ratio (OR 1.136), fat-free mass index (OR 1.444), γ-glutamyl transferase (OR 1.021), quantitative insulin sensitivity check index (OR 0.743), dyslipidemia (OR 5.357), and pancreatic fat fraction (PFF) (OR 1.205) were associated with hypertension. The optimal cut-off of PFF to divide children with NAFLD into two groups with and without hypertension was 4.39% (area under the curve 0.754, p = .001, sensitivity 82.4%, specificity 73.9%). Multiple logistic regression analysis in the fully adjusted model revealed both BMI-z (OR 4.912, 95% CI, 1.463-16.497) and PFF (OR 1.279, 95% CI, 1.007-1.624) were independent risk factors for hypertension. In conclusions, in addition to BMI-z, ectopic pancreatic fat is an important risk factor for hypertension in children with NAFLD.