Aberrantly Expressed Hsa_circ_0060762 and CSE1L as Potential Peripheral Blood Biomarkers for ALS

Amyotrophic lateral sclerosis (ALS) is a rapidly progressive adult-onset neurodegenerative disease that is often diagnosed with a delay due to initial non-specific symptoms. Therefore, reliable and easy-to-obtain biomarkers are an absolute necessity for earlier and more accurate diagnostics. Circular RNAs (circRNAs) have already been proposed as potential biomarkers for several neurodegenerative diseases. In this study, we further investigated the usefulness of circRNAs as potential biomarkers for ALS. We first performed a microarray analysis of circRNAs on peripheral blood mononuclear cells of a subset of ALS patients and controls. Among the differently expressed circRNA by microarray analysis, we selected only the ones with a host gene that harbors the highest level of conservation and genetic constraints. This selection was based on the hypothesis that genes under selective pressure and genetic constraints could have a major role in determining a trait or disease. Then we performed a linear regression between ALS cases and controls using each circRNA as a predictor variable. With a False Discovery Rate (FDR) threshold of 0.1, only six circRNAs passed the filtering and only one of them remained statistically significant after Bonferroni correction: hsa_circ_0060762 and its host gene CSE1L. Finally, we observed a significant difference in expression levels between larger sets of patients and healthy controls for both hsa_circ_0060762 and CSE1L. CSE1L is a member of the importin fi family and mediates inhibition of TDP-43 aggregation; the central pathogenicity in ALS and hsa_circ_0060762 has binding sites for several miRNAs that have been already proposed as biomarkers for ALS. In addition, receiver operating characteristics curve analysis showed diagnostic potential for CSE1L and hsa_circ_0060762. Hsa_circ_0060762 and CSE1L thus represent novel potential peripheral blood biomarkers and therapeutic targets for ALS

Introductory Editorial: Evolutionary Genomics

This supplement is intended to focus on evolutionary genomics. Evolutionary Bioinformatics aims to provide researchers working in this complex, quickly developing field with online, open access to highly relevant scholarly articles by leading international researchers. In a field where the literature is ever-expanding, researchers increasingly need access to up-to-date, high quality scholarly articles on areas of specific contemporary interest. This supplement aims to address this by presenting high-quality articles that allow readers to distinguish the signal from the noise. The editor in chief hopes that through this effort, practitioners and researchers will be aided in finding answers to some of the most complex and pressing issues of our time

Brazilian Immigrant Mothers’ Beliefs and Practices Related to Infant Feeding: A Qualitative Study

Background: Exclusive breastfeeding for the first 6 months of life and timely introduction of appropriate solid foods are important determinants of weight status in infancy and later life stages. Disparities in obesity rates among young children suggest that maternal feeding practices during the first 2 years of life may contribute to these disparities. Brazilians are a growing immigrant group in the United States, yet little research has focused on parental beliefs and behaviors affecting the health of Brazilian immigrant children in the United States. Research aim: This study aimed to explore beliefs and infant-feeding practices of Brazilian immigrant mothers in the United States. Methods: Focus group discussions were conducted with Brazilian immigrant mothers. Transcripts were analyzed using thematic analysis and themes categorized using the socioecological model. Results: Twenty-nine immigrant Brazilian mothers participated in the study. Analyses revealed that all participants breastfed their infants. The majority initiated breastfeeding soon after childbirth. However, most mothers did not exclusively breastfeed. They used formula and human milk concomitantly. Family and culture influenced mothers’ infant-feeding beliefs and practices in early introduction of solid foods. Conclusion: As the number of children in the United States growing up in families of immigrant parents increases, understanding influences on Brazilian immigrant mothers’ infant-feeding practices will be important to the development of effective interventions to promote healthy infant feeding and weight status among Brazilian children. Interventions designed for Brazilian immigrant families should incorporate an understanding of social context, family, and cultural factors to develop health promotion messages tailored to the needs of this ethnic group

Glucagon-like peptide-1 receptor and sarcoglycan delta genetic variants can affect cardiovascular risk in chronic kidney disease patients under hemodialysis

Background Chronic kidney disease (CKD) patients under hemodialysis show a higher risk of cardiovascular (CV) mortality and morbidity than the general population. This study aims to identify genetic markers that could explain the increased CV risk in hemodialysis. Methods A total of 245 CKD patients under hemodialysis were recruited and followed up for 5\u2009years to record CV events. Genetic analysis was performed using single-nucleotide polymorphisms (SNPs) genotyping by Infinium Expanded Multi-Ethnic Genotyping Array (Illumina, San Diego, CA, USA) comparing patients with and without a history of CV events [161 cardiovascular diseases (CVDs) and 84 no CVDs]. The fixation index (Fst) measure was used to identify the most differentiated SNPs, and gene ontology analysis [Protein Analysis THrough Evolutionary Relationships (PANTHER) and Ingenuity Pathway Analysis (IPA)] was applied to define the biological/pathological roles of the associated SNPs. Partitioning tree analysis interrogated the genotype\u2013phenotype relationship between discovered genetic variants and CV phenotypes. Cox regression analysis measured the effect of these SNPs on new CV events during the follow-up (FU). Results Fst analysis identified 3218 SNPs that were significantly different between CVD and no CVD. Gene ontology analysis identified two of these SNPs as involved in cardiovascular disease pathways (Ingenuity Pathway) and heart development (Panther) and belonging to 2 different genes: Glucagon-like peptide-1 receptor (GLP1R) and Sarcoglycan delta (SGCD). The phenotype\u2013genotype analysis found a higher percentage of CVD patients carrying the GLP1R rs10305445 allele A (P\u2009=\u20090.03) and lower percentages of CVD patients carrying the SGCD rs145292439 allele A (P\u2009=\u20090.038). Moreover, SGCD rs145292439 was associated with higher levels of high-density lipoprotein (P\u2009=\u20090.015). Cox analysis confirmed the increased frequency of CV events during the 5-year FU in patients carrying GLP1R rs1035445 allele A but it did not show any significant association with SGCD rs145292439. Conclusions This study identified GLP1R rs10305445 and SCGD rs145292439 as potential genetic markers that may explain the higher risk of CVD in hemodialysis patients

Squarephaneic tetraanhydride: a conjugated square‐shaped cyclophane for the synthesis of porous organic materials

Aromatic carboxylic anhydrides are ubiquitous building blocks in organic materials chemistry and have received considerable attention in the synthesis of organic semiconductors, pigments, and battery electrode materials. Here we extend the family of aromatic carboxylic anhydrides with a unique new member, a conjugated cyclophane with four anhydride groups. The cyclophane is obtained in a three-step synthesis and can be functionalised efficiently, as shown by the conversion into tetraimides and an octacarboxylate. Crystal structures reveal the high degree of porosity achievable with the new building block. Excellent electrochemical properties and reversible reduction to the tetraanions are shown for the imides; NMR and EPR measurements confirm the global aromaticity of the dianions and evidence the global Baird aromaticity of the tetraanions. Considering the short synthesis and unique properties, we expect widespread use of the new building block in the development of organic materials

What Will the Future ofUAV Cellular Communications Be?A Flight from 5G to 6G

What will the future of UAV cellular communicationsbe?In this tutorial article, we address such a compelling yetdifficult question by embarking on a journey from 5G to 6Gand expounding a large number of case studies supported byoriginal results. We start by overviewing the status quo on UAVcommunications from an industrial standpoint, providing freshupdates from the 3GPP and detailing new 5G NR features insupport of aerial devices. We then dissect the potential andthe limitations of such features. In particular, we demonstratehow sub-6 GHz massive MIMO can successfully tackle cellselection and interference challenges, we showcase encouragingmmWave coverage evaluations in both urban and suburban/ruralsettings, and we examine the peculiarities of direct device-to-device communications in the sky. Moving on, we sneak a peekat next-generation UAV communications, listing some of the usecases envisioned for the 2030s. We identify the most promising6G enablers for UAV communication, those expected to takethe performance and reliability to the next level. For each ofthese disruptive new paradigms (non-terrestrial networks, cell-free architectures, artificial intelligence, reconfigurable intelligentsurfaces, and THz communications), we gauge the prospectivebenefits for UAVs and discuss the main technological hurdles thatstand in the way. All along, we distil our numerous findings intoessential takeaways, and we identify key open problems worthyof further study

Reconstructing Druze population history

The Druze are an aggregate of communities in the Levant and Near East living almost exclusively in the mountains of Syria, Lebanon and Israel whose ~1000 year old religion formally opposes mixed marriages and conversions. Despite increasing interest in genetics of the population structure of the Druze, their population history remains unknown. We investigated the genetic relationships between Israeli Druze and both modern and ancient populations. We evaluated our findings in light of three hypotheses purporting to explain Druze history that posit Arabian, Persian or mixed Near Eastern-Levantine roots. The biogeographical analysis localised proto-Druze to the mountainous regions of southeastern Turkey, northern Iraq and southeast Syria and their descendants clustered along a trajectory between these two regions. The mixed Near Eastern-Middle Eastern localisation of the Druze, shown using both modern and ancient DNA data, is distinct from that of neighbouring Syrians, Palestinians and most of the Lebanese, who exhibit a high affinity to the Levant. Druze biogeographic affinity, migration patterns, time of emergence and genetic similarity to Near Eastern populations are highly suggestive of Armenian-Turkish ancestries for the proto-Druze