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Complete androgen insensitivity syndrome (CAIS), where 46,XY individuals present as female, is caused by variants in the androgen receptor gene (AR). We analyzed the DNA of a patient with suspected CAIS using a targeted gene sequencing panel and whole exome sequencing (WES) but did not detect any small nucleotide variants in AR. Analysis of WES data using our bioinformatics pipeline designed to detect copy number variations (CNV) uncovered a rare duplication of exon 2 of AR. Using array comparative genomic hybridization, the duplication was found to span 43.6 kb and is predicted to cause a frameshift and loss of AR protein. We confirmed the power of our WES-CNV detection protocol by identifying pathogenic CNVs in FSHR and NR5A1 in previously undiagnosed patients with disorders of sex development. Our findings illustrate the usefulness of CNV analysis in WES data to detect pathogenic genomic changes that may go undetected using only standard analysis protocols.
The emergence and spread of Plasmodium falciparum parasites resistant to antimalarial drugs constitutes an obstacle to malaria control and elimination. This study aimed to identify the prevalence of polymorphisms in pfk13, pfmdr1, pfdhfr, pfdhps and pfcrt genes in isolates from asymptomatic and symptomatic school-age children in Kinshasa.
Nested-PCR followed by sequencing was performed for the detection of pfk13, pfmdr1, pfdhfr, pfdhps and pfcrt polymorphisms.
Two mutations in pfk13, C532S and Q613E were identified in the Democratic Republic of Congo for the first time. The prevalence of the drug-resistance associated mutations pfcrt K76T, pfdhps K540E and pfmdr1 N86Y was low, being 27%, 20% and 9%, respectively.
We found a low prevalence of genetic markers associated with chloroquine and sulfadoxine-pyrimethamine resistance in Kinshasa. Furthermore, no mutations previously associated with resistance against artemisinin and its derivatives were observed in the pfK13 gene. These findings support the continued use of ACTs and IPTp-SP. Continuous molecular monitoring of antimalarial resistance markers is recommended.
We found a low prevalence of genetic markers associated with chloroquine and sulfadoxine-pyrimethamine resistance in Kinshasa. Furthermore, no mutations previously associated with resistance against artemisinin and its derivatives were observed in the pfK13 gene. These findings support the continued use of ACTs and IPTp-SP. Continuous molecular monitoring of antimalarial resistance markers is recommended.Strongly alkaline high Cr(VI) contaminated (SAHCR) soil poses a high risk to the environment and public health, yet lacks rapid and efficient remediation technology. In this study, a novel approach combining microwave irradiation with zerovalent iron/pyrite (FeS2/ZVI) was developed for the remediation of SAHCR soil. The results indicated that fast and efficient remediation of the SAHCR soil was achieved by microwave irradiation-assisted FeS2/ZVI, with 99.9% of removal rate of Cr(VI) within 10 min, and Cr(VI) concentration from 3900.8 plummeted to 2.38 mg kg-1. The data of Cr(VI) reduction kinetics at different temperatures indicated that the activation energies (Ea) for microwave-FeS2/ZVI system was 27.4 kJ mol-1, 28.5% lower than that without microwave irradiation, suggesting that in addition to the heating effect of microwave, the accelerated Cr(VI) reduction also comes from the catalytic effect of "hot spots" on FeS2/ZVI under microwave irradiation. Furthermore, it was demonstrated that microwave irradiation promoted the transformation of reduced Cr(III) into the stable FeCr2O4 mineral and the excellent long-term stability of the remediated SAHCR soil. These findings can provide a perspective for advanced remediation of the difficult-to-treat SAHCR soil by the synergism of microwave irradiation with the iron-sulfur based reducing materials.Organic ultraviolet (UV) filters are used in personal care products, but they are also added to industrial products and are constantly released to the environment. This study analyses the occurrence of 8 widely used organic UV filters in seawater from three beaches on the Gran Canaria Island (Spain) and in three wastewater treatment plants (WWTPs) by taking samples from influents and effluents. It also discusses the target compounds' post-treatment removal efficiencies. Sampling was carried out for 6 months and analytes were extracted by solid phase extraction with Sep-pak C18 cartridges. They were determined by ultra-high performance liquid chromatography coupled to mass spectrometry in tandem. The potential environmental hazard associated with the found concentrations was also assessed for marine organisms. Different target compounds were detected on the analysed beaches and in the wastewater. Benzophenone-3 (BP3) was the most recurrent compound in the seawater samples (frequency detection of 83%) and also igh hazard for living species if these compounds are present.Synthetic microfibers have been identified as the most prevalent type of microplastic in samples from aquatic, atmospheric, and terrestrial environments across the globe. Apparel washing has shown to be a major source of microfiber pollution. We used California as a case study to estimate the magnitude and fate of microfiber emissions, and to evaluate potential mitigation approaches. First, we quantified synthetic microfiber emissions and fate from apparel washing in California by developing a material flow model which connects California-specific data on synthetic fiber consumption, apparel washing, microfiber generation, and wastewater and biosolid management practices. Next, we used the model to assess the effectiveness of different interventions to reduce microfiber emissions to natural environments. We estimate that in 2019 as much as 2.2 kilotons (kt) of synthetic microfibers were generated by apparel washing in California, a 26% increase since 2008. The majority entered terrestrial environments (1.6 kt reduction of all modeled scenarios.For some students, university, can be a period of increased autonomy in food choice and for black, Asian and minority ethnic (BAME) and international students, the addition of culture may be a governing factor. This study aimed to examine the extent of dietary acculturation and dietary enculturation on the influence of student's food choices using a phenomenological approach. Sixty participants (forty-one home students and nineteen international students) recruited by purposive sampling, were included in the study. Data collection involved self-administered multiple choice and short answer questionnaires and semi structured interviews. The results were analysed using thematic analysis. When living away from home, six major themes influenced the eating behaviour of the studied population social environment, individual factors, physical environment, university life, enculturation and acculturation. When at home, five major themes were influential social environment, individual factors, physical environment, enculturation and acculturation. The main findings suggest dietary enculturation is a factor which influences the dietary behaviour of both international students and BAME home students.Given overwhelming evidence that current levels of meat consumption jeopardize human and planetary health, there is a need for governmental action to reduce meat consumption (i.e., Meat Curtailment Policies, or MCPs). However, few such policies are actually being implemented, in part due to fear of backlash. Better understanding the ideological underpinning of backlash is thus crucial for designing strategies that can further the much needed transition towards more plant-based diets. To address this issue, this study unravels the diverse ideological notions informing backlash in discourse against MCPs. Data consists of three news articles in right-wing publications and over 2700 corresponding comments, posted on Facebook in response to policy proposals to reduce animal protein consumption in the Netherlands. Analysis of the data is based on a framework for ideological discourse analysis, which enables the identification of ideological notions through recognizing semantic and formal structures in text. The research reveals that next to the well documented notions related to neoliberalism (e.g., freedom of choice) and carnism (e.g., meat is normal), populist notions are a significant ideological basis of backlash. In addition, ideological notions related to populism, such as anti-elitism, are interlocked with carnism and neoliberalism. The analysis contributes to a better understanding of the socio-political nature of backlash against MCPs. It suggests that while notions related to carnism can explain how people justify their meat consumption, such notions are only partly relevant for explaining resistance to MCPs. Such resistance is not just an individual response, but a theme around which groups of people converge, through shared ideologies.Nowadays people use screens, such as mobile phones, television, or tablets, more often during mealtimes, which may have an effect on intake. This review aims to analyze the effect of screen use, during food consumption, on intake. A systematic review was carried out, based on those protocols established by PRISMA. The Cochrane Library, PubMed, Web of Science and Scopus databases were consulted. Experimental studies, published between 2010 and 2021, that recorded individual intake while using screens such as television, cell phones, or tablets, were selected. A total of 7181 relevant articles were obtained, which were then assessed in accordance with predetermined inclusion and exclusion criteria. Finally, 35 studies were included in the complete review 22 compared different kinds of television content (e.g., adverts), five which compared television versus the absence of screens, four which compared television versus video games, two which compared the use of simultaneous screens, and two studies which included cell phones. A total of 27 studies reported consumption increases related to the presence of advertisements and food signals on screens. Roxadustat No significant differences in intake were reported in the eight studies that reported design or sample size limitations, or lack of control of certain variables. It is thus concluded that screen use during food consumption may increase intake. Education is necessary to regulate the habit of consuming food in the presence of screens. Also, the creation of policies that regulate advertising and food cues on screens are justified and must be accompanied by strategies to monitor compliance. As a limitation, further evidence is necessary in order to determine the effect of mobile phone and tablet use while eating. This protocol was registered via PROSPERO, ID CRD42020211797.Cognitive theories of eating disorders implicate Attentional Bias (AB) towards food-related information in the development and maintenance of eating disorders. Empirical evidence for this proposal, however, has been inconsistent, and the measures used to examine AB to food-related stimuli typically showed poor reliability. The aim of the current study was twofold. Firstly, we aimed to examine the psychometric properties of a newly devised eye-tracking task for the assessment of AB in the context of eating disorders. Secondly, we examined the role of Eating Disorder-specific (ED-specific) rumination as a potential moderator of the association between attentional bias to food images and eating disorder symptoms. One hundred and three female students were recruited and completed an eye-tracking task comprising 21 matrices that each contained 8 low-calorie and 8 high-calorie food images. Each matrix was presented for 6 s. First fixation location, first fixation latency, and total dwell time were assessed for low and high-calorie food images and the dwell-time based AB measure showed good reliability based on Cronbach's alpha, McDonald's Omega, and split-half method.
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