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Limitations in the current use of 3- and 5-[micro]m particles in HPLC has lead to interesting theories of how an expanded van Deemter curve can be utilized with smaller particles [...]

The main benefits of increased temperature are shorter retention times and a general improvement in peak efficiency and peak asymmetry. Ultra high temperature liquid chromatography (UHT-LC) is expected to show [...]

The Egyptian Western Desert lies on an important geographic intersection between Africa and Asia. Genetic diversity of this region has been shaped, in part, by climatic changes in the Late Pleistocene and Holocene epochs marked by oscillating humid and arid periods. We present here a whole genome analysis of mitochondrial DNA (mtDNA) and high-resolution molecular analysis of nonrecombining Y-chromosomal (NRY) gene pools of a demographically small but autochthonous population from the Egyptian Western Desert oasis el-Hayez. Notwithstanding signs of expected genetic drift, we still found clear genetic evidence of a strong Near Eastern input that can be dated into the Neolithic. This is revealed by high frequencies and high internal variability of several mtDNA lineages from haplogroup T. The whole genome sequencing strategy and molecular dating allowed us to detect the accumulation of local mtDNA diversity to 5,138 ± 3,633 YBP. Similarly, the Y-chromosome gene pool reveals high frequencies of the Near Eastern J1 and the North African E1b1b1b lineages, both generally known to have expanded within North Africa during the Neolithic. These results provide another piece of evidence of the relatively young population history of North Africa. [ABSTRACT FROM AUTHOR]

We analyzed the current status (as of the end of August 2008) of human mitochondrial genomes deposited in GenBank, amounting to 5140 complete or coding-region sequences, in order to present an overall picture of the diversity present in the mitochondrial DNA of the global human population. To perform this task, we developed mtDNA-GeneSyn, a computer tool that identifies and exhaustedly classifies the diversity present in large genetic data sets. The diversity observed in the 5140 human mitochondrial genomes was compare~I with all possible transitions and transversions from the standard human mitochondrial reference genome. This comparison showed that tRNA and rRNA secondary structures have a large effect in limiting the diversity of the human mitochondrial sequences, whereas for the protein-coding genes there is a bias toward less variation at the second codon positions. The analysis of the observed amino and variations showed a tolerance of variations that convert between the amino acids V, I, A, M, and T. This defines a group of amino acids with similar chemical properties that can interconvert by a single transition. [ABSTRACT FROM AUTHOR]

Large variability in COVID-19 clinical progression urges the need to find the most relevant biomarkers to predict patients' outcomes. We evaluated iron metabolism and immune response in 303 patients admitted to the main hospital of the northern region of Portugal with variable clinical pictures, from September to November 2020. One hundred and twenty-seven tested positive for SARS-CoV-2 and 176 tested negative. Iron-related laboratory parameters and cytokines were determined in blood samples collected soon after admission. Demographic data, comorbidities and clinical outcomes were recorded. Patients were assigned into five groups according to severity. Serum iron and transferrin levels at admission were lower in COVID-19-positive than in COVID-19-negative patients. The levels of interleukin (IL)-6 and monocyte chemoattractant protein 1 (MCP-1) were increased in COVID-19-positive patients. The lowest serum iron and transferrin levels at diagnosis were associated with the worst outcomes. Iron levels negatively correlated with IL-6 and higher levels of this cytokine were associated with a worse prognosis. Serum ferritin levels at diagnosis were higher in COVID-19-positive than in COVID-19-negative patients. Serum iron is the simplest laboratory test to be implemented as a predictor of disease progression in COVID-19-positive patients. [ABSTRACT FROM AUTHOR]

Despite the enormous progress made in the last few decades, infectious diseases still represent a huge challenge to human society and health systems, as evidenced by the recent SARS-CoV-2 pandemic. The identification of host targets of infection with a role in disease progression or resistance represents a new opportunity to envisage host-directed therapies. In a time when antibiotic treatments are being challenged by increasing bacterial resistance rates, host-directed therapies represent an appealing complementary strategy to combat infectious diseases. Ferritin, first discovered as an iron storage protein, has emerged as an important disease biomarker in inflammatory diseases, or diseases in which inflammation has a central role such as infection. [Extracted from the article]

The article presents mitochondrial DNA (mtDNA) data for Yemeni populations that reveal different distributions of lineages of mtDNA. In the study, database of mtDNA sequences from North and East Africa, Middle Eastern and Indian populations was examined in order to give a context for the regional Yemeni mtDNA datasets. The study concludes that the Yemeni gene pool is highly stratified regionally and temporally. It has also received gene flow from West Eurasian, Northern African, and South Asian.

Of two species of geophilomorph centipedes collected above high waters in termite mounds in the Pantanal of Mato Grosso, one (Schendylops inquilinus) is described here as new; the other (Aphilodon angustatus Silvestri, 1909) is redescribed. [ABSTRACT FROM AUTHOR]

Ancestry testing can provide valuable information in forensic applications, but its efficiency has not yet been properly evaluated when used in highly admixed populations. In this work we tested a commercial ancestry panel containing 165 autosomal SNPs in 30 Dubai residents. Most of the tested individuals displayed, as expected, an admixed profile, but in general the main inferred ancestry was of Southwest Asian extraction, testifying that these tests can provide useful complementary forensic information. [ABSTRACT FROM AUTHOR]

Examines the increasing use of the Y-chromosome polymorphisms in reconstructing the history of human populations in southwestern Europe. Analysis of population affiliations and structures; Clinal distribution that reflects the genetic input associated with the Neolithic spread of agriculture; Admixture between the African males and Western Iberian populations.

Evaluates the allele frequencies and a single-base substitution polymorphism for three short tandem repeat loci of the human myelin basic protein (MBP) gene in North Portugal and Sao Tome e Principe. Strong linkage disequilibrium between loci MBPB and MBPC; Patterns of nonrandom allelic associations.

Transcriptomics, proteomics and pathogen-host interactomics data are being explored for the in silico–informed selection of drugs, prior to their functional evaluation. The effectiveness of this kind of strategy has been put to the test in the current COVID-19 pandemic, and it has been paying off, leading to a few drugs being rapidly repurposed as treatment against SARS-CoV-2 infection. Several neglected tropical diseases, for which treatment remains unavailable, would benefit from informed in silico investigations of drugs, as performed in this work for Dengue fever disease. We analyzed transcriptomic data in the key tissues of liver, spleen and blood profiles and verified that despite transcriptomic differences due to tissue specialization, the common mechanisms of action, "Adrenergic receptor antagonist", "ATPase inhibitor", "NF-kB pathway inhibitor" and "Serotonin receptor antagonist", were identified as druggable (e.g., oxprenolol, digoxin, auranofin and palonosetron, respectively) to oppose the effects of severe Dengue infection in these tissues. These are good candidates for future functional evaluation and clinical trials. [ABSTRACT FROM AUTHOR]

Glazed systems in buildings can account for a significant part of overall energy consumption. The unfavorable relationship between energy savings and the increased cost of energy-efficient windows is often the main drawback cited by customers to justify its non-acquisition. of glazed windows. This study addresses the relationship between the investment costs in windows and their energy performance and associated costs. Seventeen window manufacturers were contacted. This survey studied the state-of-the-art and the most-used windows in terms of energy efficiency and cost. Calumen and Guardian Configurator software were used to perform this assessment. Additionally, SEnergEd software was used to simulate the energy performance and compute the equivalent annual cost for the entire life cycle of buildings. Besides the economic benefits, the impact of the energy performance of the windows on the energy performance of the building was also studied. In terms of energy, the most efficient glazing system was two windows per span, resulting in a combined solar factor of 0.43 and a 0.55 W/(m2·K) heat-transfer coefficient. On the other hand, one window per span, with a solar factor of 0.79 and a 3.05 W/(m2 K) heat-transfer coefficient is the most cost-efficient to be used in Portugal. [ABSTRACT FROM AUTHOR]

Field epidemiology and viral sequencing provide a comprehensive characterization of transmission chains and allow a better identification of superspreading events. However, very few examples have been presented to date during the COVID-19 pandemic. We studied the first COVID-19 cluster detected in Portugal (59 individuals involved amongst extended family and work environments), following the return of four related individuals from work trips to Italy. The first patient to introduce the virus would be misidentified following the traditional field inquiry alone, as shown by the viral sequencing in isolates from 23 individuals. The results also pointed out family, and not work environment, as the primary mode of transmission. [ABSTRACT FROM AUTHOR]

Cystic Fibrosis (CF) is a life-long genetic disease, causing increased energy needs and a healthy diet with a specific nutrient distribution. Nutritional status is an indicator of disease prognosis and survival. This study aimed at assessing the effectiveness of a self-management mobile app in supporting patients with CF to achieve the dietary goals set by the CF nutrition guidelines. A clinical trial was conducted in pancreatic insufficient children with CF, followed in six European CF centres, where the self-management app developed within the MyCyFAPP project was used for six months. To assess secondary outcomes, three-day food records were compiled in the app at baseline and after 3 and 6 months of use. Eighty-four subjects (mean 7.8 years old) were enrolled. Compared to baseline, macronutrient distribution better approximated the guidelines, with protein and lipid increasing by 1.0 and 2.1% of the total energy intake, respectively, by the end of the study. Consequently, carbohydrate intake of the total energy intake decreased significantly (−2.9%), along with simple carbohydrate intake (−2.4%). Regarding food groups, a decrease in ultra-processed foods was documented, with a concomitant increase in meat and dairy. The use of a self-management mobile app to self-monitor dietary intake could become a useful tool to achieve adherence to guideline recommendations, if validated during a longer period of time or against a control group. [ABSTRACT FROM AUTHOR]

The adaptation of spaces to different usage typologies can be complex in heritage buildings. Facilities were initially planned for a specific type of use that, when changed, require additional measures to ensure a suitable indoor environment. Passive strategies—e.g., free cooling—are commonly used as an alternative without requiring equipment installation. However, its implementation often leads to unsatisfactory conditions. Therefore, it is important to clarify the main barriers to achieving thermal comfort in readapted historic buildings. The present work investigates the thermal comfort conditions reported by workers in office spaces of a historic building in the University of Coimbra. A monitoring campaign was carried out between May and September 2020 to assess indoor conditions' quality. Due to the current pandemic of COVID-19, offices were not occupied at full capacity. A one-day evaluation of thermal comfort was made using a climate analyzer and six occupants were surveyed on 19 August 2020. The main results highlighted discomfort due to overheating of spaces. The causes were related to the combination of inadequate implementation of the free cooling actions and the building use. Furthermore, it was recommended the installation of HVAC systems in case of full capacity. [ABSTRACT FROM AUTHOR]

In an asymptomatic patient, the first reference to the association of mitral valve prolapse and coronary fistula is described and a pathogenic connection discussed. [ABSTRACT FROM AUTHOR]

In higher-education world heritage sites, the conservation and energy retrofitting of heritage buildings (HBs) is an important vector for their development, competitiveness and welfare. To guarantee their ongoing use, these buildings must be adapted to face current and emerging societal challenges: (i) the conservation of cultural heritage and the maintenance of their original characteristics and identity; (ii) the transformation of heritage sites into tourist centers that energize the local economy, generating revenue and jobs; (iii) the adaptation of the buildings to new uses and functions that demand energy retrofitting strategies to satisfy today's standards of thermal comfort, indoor environmental quality (IEQ) and energy efficiency; (iv) tackling impacts of climate change, particularly global warming and extreme weather events; and finally, (v) the implementation of strategies to mitigate the impact of a growing number of tourists. The combined implications of these challenges require a comprehensive approach with interrelated measures strongly reliant on the use of technology and innovation. This work aims to discuss how higher-education cultural HBs can be rethought to serve these expectations. Moreover, a multidisciplinary intervention framework is provided to discuss how HBs can respond to the challenges and risks of rehabilitation, energy retrofitting, climate change and increasing tourism. [ABSTRACT FROM AUTHOR]

A few molecularly proven severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) cases of symptomatic reinfection are currently known worldwide, with a resolved first infection followed by a second infection after a 48 to 142-day intervening period. We report a multiple-component study of a clinically severe and prolonged viral shedding coronavirus disease 2019 (COVID-19) case in a 17-year-old Portuguese female. She had two hospitalizations, a total of 19 RT-PCR tests, mostly positive, and criteria for releasing from home isolation at the end of 97 days. The viral genome was sequenced in seven serial samples and in the diagnostic sample from her infected mother. A human genome-wide array (>900 K) was screened on the seven samples, and in vitro culture was conducted on isolates from three late samples. The patient had co-infection by two SARS-CoV-2 lineages, which were affiliated in distinct clades and diverging by six variants. The 20A lineage was absolute at the diagnosis (shared with the patient's mother), but nine days later, the 20B lineage had 3% frequency, and two months later, the 20B lineage had 100% frequency. The 900 K profiles confirmed the identity of the patient in the serial samples, and they allowed us to infer that she had polygenic risk scores for hospitalization and severe respiratory disease within the normal distributions for a Portuguese population cohort. The early-on dynamic co-infection may have contributed to the severity of COVID-19 in this otherwise healthy young patient, and to her prolonged SARS-CoV-2 shedding profile. [ABSTRACT FROM AUTHOR]

Background: Most patients with cystic fibrosis (CF) suffer from pancreatic insufficiency, leading to fat malabsorption, malnutrition and abdominal discomfort. Until recently, no specific tool was available for assessing gastro-intestinal related quality of life (GI QOL) in patients with CF. As the Horizon2020 project MyCyFAPP aims to improve GI QOL by using a newly designed mobile application, a sensitive and reliable outcome measure was needed. We aimed to study the applicability of the existing child-specific Pediatric Quality of Life Inventory, Gastrointestinal Symptoms Scales and Module (PedsQL GI) in children with CF. Methods: A multicenter, prospective observational study was performed in 6 European centers to validate the PedsQL GI in children with CF during 3 months. Results: In total, 248 children and their parents were included. Within-patient variability of PedsQL GI was low (24.11), and there was reasonable agreement between children and parents (ICC 0.681). Nine of 14 subscales were informative (no ceiling effect). The PedsQL GI and the median scores for 4 subscales were significantly lower in patients compared to healthy controls. Positive associations were found between PedsQL GI and age (OR = 1.044, p = 0.004) and between PedsQL GI and BMI z-score (OR = 1.127, p = 0.036). PedsQL GI correlated with most CFQ-R subscales (r 0.268 to 0.623) and with a Visual Analogue Scale (r = 0.20). Conclusions: PedsQL GI is a valid and applicable instrument to assess GI QOL in children with CF. Future research efforts should examine the responsiveness of the CF PedsQL GI to change in the context of clinical interventions and trials. [ABSTRACT FROM AUTHOR]

An amendment to this paper has been published and can be accessed via a link at the top of the paper. [ABSTRACT FROM AUTHOR]

Background: Grief in parents has been described as a very intense long-lasting experience, characterized by deep sadness, and social isolation, therefore, the recommendation of scientific societies in pediatrics is to provide bereavement care to parents and relatives of deceased children who have previously been cared for by health professionals. Objetive: A bereavement workshop for parents is proposed as an intervention strategy, providing accompaniment to the families of deceased patients who received pediatric palliative care (PPC). Methods: This is a descriptive, qualitative, and exploratory study. Two focal group sessions were performed in 2019 with 23 families who were formal caregivers of pediatric patients in the Programa de Cuidando de ti (Program "Taking Care of You"), Cali, Colombia. These sessions, guided by the pediatric palliative care group. Data were analyzed using content analysis. Results: 60 families received the personalized letter of condolences with invitation to the workshop, 23 families attended the workshop. From the gratitude activity, families made 49 thank you cards, the following categories were highlighted: Communication, Hope, compassion, acceptance, humanization, learning, gratitude, active listening, coping strategies, regards, faith and humanization. Conclusion: Strategies that favor adequate emotional management of the grieving process should be promoted. This study reflects the perceptions of parents attending a bereavement workshop. It highlights the gratitude, feelings and reflections of the family members during the health process and the death of the child while receiving accompaniment by a pediatric palliative care team. [ABSTRACT FROM AUTHOR]

Despite being the fourth largest island in the Mediterranean basin, the genetic variation of Corsica has not been explored as exhaustively as Sardinia, which is situated only 11 km South. However, it is likely that the populations of the two islands shared, at least in part, similar demographic histories. Moreover, the relative small size of the Corsica may have caused genetic isolation, which, in turn, might be relevant under medical and translational perspectives. Here we analysed genome wide data of 16 Corsicans, and integrated with newly (33 individuals) and previously generated samples from West Eurasia and North Africa. Allele frequency, haplotype-based, and ancient genome analyses suggest that although Sardinia and Corsica may have witnessed similar isolation and migration events, the latter is genetically closer to populations from continental Europe, such as Northern and Central Italians. [ABSTRACT FROM AUTHOR]