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The Arab population encompasses over 420 million people characterized by genetic admixture and a consequent rich genetic diversity. A number of genetic diseases have been reported for the first time from the population. Additionally a high prevalence of some genetic diseases including autosomal recessive disorders such as hemoglobinopathies and familial mediterranean fever have been found in the population and across the region. There is a paucity of databases cataloguing genetic variants of clinical relevance from the population. The availability of such a catalog could have implications in precise diagnosis, genetic epidemiology and prevention of disease. To fill in the gap, we have compiled DALIA, a comprehensive compendium of genetic variants reported in literature and implicated in genetic diseases reported from the Arab population. The database aims to act as an effective resource for population-scale and sub-population specific variant analyses, enabling a ready reference aiding clinical interpretation of genetic variants, genetic epidemiology, as well as facilitating rapid screening and a quick reference for evaluating evidence on genetic diseases. [ABSTRACT FROM AUTHOR]

A total of 115 isolates of lactic acid bacteria were screened from traditional fermented foods in Guizhou Province, People's Republic of China. The cholesterol removal rates of 86 isolates ranged from 7.29 to 25.66%, and 18 isolates showed a cholesterol removal rate of more than 15%. According to the results of physiological and biological tests, 13 isolates were selected to determine the fermentation performance; 9 isolates—MT-4, MT-2, PJ-15, SR2-2, SQ-4, SQ-7, ST2-2, ST2-6, and NR1-7—had high tolerance of bile salt and acid and had a survival rate of more than 96% under pH 3.0 and 0.3% bile salt. ST2-2, SR2-2, NR1-7, SQ-4, and MT-4 had high survival rate in different concentrations of NaCl and NaNO2 under different temperatures. According to BLAST comparison results of the 16S rRNA sequence in the GenBank database and the genetic distance of the 16S rRNA sequence with an ortho-connected algorithm, SR2-2, NR1-7, and ST2-2 were identified as Lactobacillus plantarum, MT-4 was identified as Lactobacillus pentosus, and SQ-4 was identified as Lactobacillus paraplantarum. Moreover, strains SQ-4 and MT-4 were added to fermented beef. Results showed that the fermented beef had delicious taste and was popular to consumers because of its proper pH, pleasant colors, high viable cell count, and suitable content of bound and immobilized water. These results provide a basis for the development of new starter formulation for the production of high-quality fermented meat products. A total of 115 LAB isolates were obtained from traditional fermented products in Guizhou, China. Five strains had high tolerance to acid and bile salt and a high survival rate in NaCl and NaNO2. Lactobacillus pentosus MT-4 and L. paraplantarum SQ-4 could be potential meat starters. [ABSTRACT FROM AUTHOR]

Law enforcement agencies are increasingly turning to genetic databases as a way of solving crime, either through requesting the DNA profile of an identified suspect from a database or, more commonly, by matching crime scene DNA with DNA profiles in a database in an attempt to identify a suspect or a family member of a suspect. Neither of these efforts implicates the Fourth Amendment, because the Supreme Court has held that a Fourth Amendment "search" does not occur unless police infringe "expectations of privacy society is prepared to recognize as reasonable" and has construed that phrase narrowly, without reference to society's actual views. The empirical study presented in this Article, which attempts to gauge societal privacy expectations in this terrain, suggests that laypeople consider law enforcement access to genetic information to be as intrusive as, or more intrusive than, searches of bedrooms, text messages, or emails, not only when one's DNA is held by health care providers, but also when it is obtained from direct-to-consumer genetic testing companies and public genealogy websites. Our research also suggests that the location of genetic information--rather than its nature, the purpose for which it is acquired, or the extent to which its surrender was voluntary--is the primary driver of these intrusiveness perceptions. Based on this research, we argue that both police access to non-governmental genetic databases and police use of covert methods to collect DNA in the hope of matching crime scene DNA require judicial authorization, although not necessarily a traditional warrant. More broadly, we argue that empirical data about the public's privacy concerns surrounding law enforcement's collection of and access to genetic data should be an integral consideration in judicial determinations of how these activities should be regulated by the Constitution. [ABSTRACT FROM AUTHOR]

Introduction: This study assessed the hypothesis that circulating human amylin (amyloid-forming) cross-seeds with amyloid beta (Aβ) in early Alzheimer’s disease (AD). Methods: Evidence of amylin-AD pathology interaction was tested in brains of 31 familial AD mutation carriers and 20 cognitively unaffected individuals, in cerebrospinal fluid (CSF) (98 diseased and 117 control samples) and in genetic databases. For functional testing, we genetically manipulated amylin secretion in APP/PS1 and non-APP/PS1 rats. Results: Amylin-Aβ cross-seeding was identified in AD brains. High CSF amylin levels were associated with decreased CSF Aβ42 concentrations. AD risk and amylin gene are not correlated. Suppressed amylin secretion protected APP/PS1 rats against AD-associated effects. In contrast, hypersecretion or intravenous injection of human amylin in APP/PS1 rats exacerbated AD-like pathology through disruption of CSF-brain Aβ exchange and amylin-Aβ cross-seeding. Discussion: These findings strengthened the hypothesis of circulating amylin-AD interaction and suggest that modulation of blood amylin levels may alter Aβ-related pathology/symptoms. [ABSTRACT FROM AUTHOR]

Investigative genetic genealogy (IGG) is a new technique for identifying criminal suspects that has sparked controversy. The technique involves uploading a crime scene DNA profile to one or more genetic genealogy databases with the intention of identifying a criminal offender's genetic relatives and, eventually, locating the offender within the family tree. IGG was used to identify the Golden State Killer in 2018 and it is now being used in connection with hundreds of cases in the USA. Yet, as more law enforcement agencies conduct IGG, the privacy implications of the technique have come under scrutiny. While these issues deserve careful attention, we are concerned that their discussion is, at times, based on misunderstandings related to how IGG is used in criminal investigations and how IGG departs from traditional investigative techniques. Here, we aim to clarify and sharpen the public debate by addressing four misconceptions about IGG. We begin with a detailed description of IGG as it is currently practiced: what it is and—just as important—what it is not. We then examine misunderstood or not widely known aspects of IGG that are potentially confusing efforts to have constructive discussions about its future. We conclude with recommendations intended to support the productivity of those discussions. [ABSTRACT FROM AUTHOR]

BACKGROUND: Traditional Chinese medicine believes that the early bone erosions mostly belong to phlegm and blood stasis, so early treatment of osteonecrosis of the femoral head (ONFH) is often similar to the treatment of phlegm and blood stasis. Based on network pharmacology we can build a “component-targetpathway- disease” network of drugs to explore the relationship between drugs and diseases, thereby clarifying the mechanism of drugs OBJECTIVE: To construct the component-target-pathway-disease network of Qutan Zhuyu Decoction and to explore the key targets and mechanism of Qutan Zhuyu Decoction in the treatment of ONFH. METHODS: Taohong Siwu Decoction and Erchen Decoction are effective prescriptions for the treatment of early ONFH. The representative drugs include Pinellia tangerine peel, medlar, peach kernel and safflower, named as Qutan Zhuyu Decoction. The main active components and targets of Qutan Zhuyu Decoction was searched and screened in the Chinese Medicine Computing System Pharmacology Analysis Platform (TCMSP), and a search for ONFH targets in the Human Gene Database (GeneCards) and the Human Mendelian Genetic Database (OMIM) was performed. The common targets of Qutan Zhuyu Decoction and ONFH were got by Venn diagrams. Cytoscape3.6.1 was used to construct a Chinese medicine-ingredient-disease-target regulation network, then establish a protein-protein interaction network through the STRING data platform, and finally use the Bioconductor platform and R language for gene ontology enrichment analysis and gene interaction (KEGG) pathway analysis. RESULTS AND CONCLUSION: The main components of Qutan Zhuyu Decoction for the treatment of ONFH were 78 active components such as sitosterol and naringenin. The targets for therapeutic effects might include 61 key targets such as NCOA2 and PTGS1. The biological processes affecting the treatment of ONFH mainly included proximal promoters, sequence-specific DNA binding, and regulation of DNA-binding transcriptional activity. Key pathways for therapeutic use included interleukin-17 signaling pathway and apoptosis. Overall, the therapeutic effect of Qutan Zhuyu Decoction on ONFH reflects the characteristics of multi-component-multi-target-multi-channel of traditional Chinese medicine, suggesting that its mechanism may be achieved by multi-components, multi-targets and multi-channels. [ABSTRACT FROM AUTHOR]

Background: Streptomycin is used as an epidemiological marker in monitoring programs for antimicrobial resistance in Salmonella serovars and indicates the presence of pentaresistance. However, comprehensive data on streptomycin resistant Salmonella among human, animal, and animal products is lacking in Ethiopia. In this review, we aimed to assess heterogeneity and pooled proportion of Salmonella serovars to streptomycin resistance among human, animal and animal products in Ethiopia. Methods: We conducted a systematic review and meta-analysis of published literature from Ethiopia. We used the MEDLINE/ PubMed, Embase, Cochrane Library, and Google Scholar databases to identify genetic and phenotypic data on Salmonella isolates. To determine the heterogeneity and pooled proportion, we used metaprop commands and the random-effects model. Relative and cumulative frequencies were calculated to describe the overall preponderance of streptomycin resistance isolates after arcsine-transformed data. Metan funnel and meta-bias using a begg test were performed to check for publication bias. Results: Overall, we included 1475 Salmonella serovars in this meta-analysis. The pooled proportion of streptomycin resistance was 47% (95% CI: 35–60%). Sub-group analysis by target population showed that the proportion of streptomycin resistance in Salmonella serovars was 54% (95% CI: 35–73%) in animal, 44% (95% Cl: 33–59%) in humans and 39% (95% CI: 24–55%) in animals products. The streptomycin resistant Salmonella serovars were statistically increasing from 0.35(95% CI: 0.12–0.58) in 2003 to 0.77(95% CI: 0.64–0.89) in 2018. The level of multidrug-resistant (MDR) Salmonella serovars was 50.1% in the meta-analysis. Conclusion: We found a high level of streptomycin resistance, including multidrug, Salmonella serovars among human, animals, and animal products. This resistance was significantly increasing in the last three decades (1985–2018). The resistance to streptomycin among Salmonella serovars isolated from animals was higher than humans. This mandates the continuous monitoring of streptomycin use and practicing one health approach to preventing further development of resistance in Ethiopia. Registration: We conducted a systematic review and meta-analysis after registration of the protocol in PROSPERO (CRD42019135116) following the MOOSE (Meta-Analysis of Observational Studies in Epidemiology). [ABSTRACT FROM AUTHOR]

Law enforcement agencies increasingly use online commercial and open source DNA databases to identify suspects in cases that have long since gone cold. By uploading crime scene DNA to one of these websites, investigators can find family members who have used the website and build a family tree leading back to the owner of the original DNA. This is called "familial DNA searching." The highest profile use of this investigative method to date occurred in California, but law enforcement in Washington State has been quick to begin utilizing the method as well. However, article I, section 7 of the Washington Constitution provides an enhanced privacy right to Washington residents when compared to the United States Constitution. This privacy right, which protects citizens' private affairs from governmental intrusion without a warrant, is likely violated by law enforcement use of these databases in this manner. Washington courts should and will probably conclude that this investigative technique seriously threatens this crucial constitutional right. However, the Washington legislature should not wait for the courts to weigh in. Instead, lawmakers should pass legislation to ensure that this violation of citizens' privacy is prohibited. [ABSTRACT FROM AUTHOR]

Due to the difficulties associated with detecting and correctly identifying mirids, developing an accurate species identification approach is crucial, especially for potential harmful species. Accurate identification is often hampered by inadequate morphological key characters, invalid and/or outdated systematics, and biases in the molecular data available in public databases. This study aimed to verify whether molecular characterization (i.e. DNA barcoding) is able to identify mirid species of economic relevance and if species delimitation approaches are reliable tools for species discrimination. Cytochrome c oxydase 1 (cox1) data from public genetic databases were compared with new data obtained from mirids sampled in different Italian localities, including an old specimen from private collection, showing contrasting results. Based on the DNA barcoding approach, for the genus Orthops, all sequences were unambiguously assigned to the same species, while in Adelphocoris, Lygus and Trigonotylus there were over-descriptions and/or misidentifications of species. On the other hand, in Polymerus and Deraeocoris there was an underestimation of the taxonomic diversity. The present study highlighted an important methodological problem: DNA barcoding can be a good tool for pest identification and discrimination, but the taxonomic unreliability of public DNA databases can make this method useless or even misleading. [ABSTRACT FROM AUTHOR]

On the basis of the materials of the 2010 All-Russian Population Census in Moscow, an analysis of the unevenness of the settlement of ethnic groups in the urban area is carried out. Maps reflecting the "ethnic topography" of the megalopolis have been constructed. Using the attribute "nationality" as a "quasi-genetic" marker, estimates of the level of territorial subdivision of the megalopolis population have been obtained for two levels of the population structure: for the level of large administrative-territorial units Fst= 0.129 × 10–2; for the level of small administrative-territorial units Fst = 0.742 × 10–2. Areas of the city characterized by the greatest ethnic diversity have been identified. The analysis of changes in the ethnic topography of Moscow for more than a century is carried out. The results of the study should be taken into account when forming genetic databases for the purposes of DNA identification in the Moscow population. [ABSTRACT FROM AUTHOR]

Human activities impact all ecosystems on Earth, which urges scientists to better understand biodiversity changes across temporal and spatial scales. Environmental DNA (eDNA) metabarcoding is a promising non‐invasive method to assess species composition in a wide range of ecosystems. Yet, this method requires the completeness of a reference database, i.e. a list of DNA sequences attached to each species of the regional pool, which is rarely met. As an alternative, molecular operational taxonomic units (MOTUs) can be extracted as clusters of sequences. However, the extent to which the diversity of MOTUs can predict the diversity of species across spatial scales is unknown. Here, we used 196 samples along the Rhone river (France) for which the reference database is complete to assess whether a blind eDNA approach can reliably predict the ground‐truth number of species at different spatial scales. Using the 12S rDNA teleo primer, we curated and clustered 60 million sequences into MOTUs using a new assembled bioinformatic pipeline. We show that stringent quality filters were necessary to remove artefact noise, notably MOTUs present in a single PCR replicate, which represented 55% of MOTUs (103). Post‐clustering cleaning also removed 19 additional erroneous MOTUs and only discarded one truly present species. We then show that the diversity of retained fish MOTUs accurately predicted the local (α, r = 0.98) and regional (γ) ground‐truth species diversity (67 MOTUs versus 63 species), but also the species dissimilarity between samples (β‐diversity, r = 0.98). This work paves the way towards extending the use of eDNA metabarcoding in community ecology and biogeography despite major gaps in genetic reference databases. [ABSTRACT FROM AUTHOR]

Because the mutant mlo allele causes a non-race specific and broad-spectrum resistance to powdery mildew caused by Blumeria graminis f. sp. hordei, the Mlo gene was taken into consideration in barley. Mlo genes also play important roles in plant growth and responses to biotic and abiotic stresses. The Mlo gene family has been studied in several plant species. In this study, we used bioinformatics tools and searches in genomic databases to reveal the genetic characteristics and protein structure of the Mlo family in wheat (Triticum aestivum) and apple (Malus domestica). We employed Mlo proteins sequences of Arabidopsis thaliana as a template for tBLASTn, which eventually identified 29 MdMlo (M. domestica Mlo) proteins and 11 TaMlo proteins (T. aestivum Mlo). The comparative phylogenetic analysis classified MdMlo and TaMlo proteins into three main clades and showed that, regardless of plant species, Mlo1s (the first member of the Mlo protein family in wheat, apple and Arabidopsis), Mlo2s, Mlo3s, and so on up to Mlo12s, are closely related. This indicates that after the separation of these species, no further expansion has been occurred in the Mlo gene family. The functionally conserved motifs present in the Mlo proteins were investigated using MEME tool, which showed a maximum of 15 and minimum 10 conserved motifs. The genes TaMlo6, MdMlo8, MdMlo11, TaMlo2, and TaMlo1 are predicted to participate in powdery mildew resistance because of having E/D-F-S-F motif. Analysis of gene organization, protein properties, and conserved domains revealed that the M. domestica and T. aestivum Mlo gene paralogs are more divergent from each other than from their orthologous pairs. [ABSTRACT FROM AUTHOR]

Pathogenic mitochondrial DNA (mtDNA) mutations leading to mitochondrial dysfunction can cause cardiomyopathy and heart failure. Owing to a high mutation rate, mtDNA defects may occur at any nucleotide in its 16 569 bp sequence. Complete mtDNA sequencing may detect pathogenic mutations, which can be difficult to interpret because of normal ethnic/geographic-associated haplogroup variation. Our goal is to show how to identify candidate mtDNA mutations by sorting out polymorphisms using readily available online tools. The purpose of this approach is to help investigators in prioritizing mtDNA variants for functional analysis to establish pathogenicity. We analyzed complete mtDNA sequences from 29 Italian patients with mitochondrial cardiomyopathy or suspected disease. Using MITOMASTER and PhyloTree, we characterized 593 substitution variants by haplogroup and allele frequencies to identify all novel, non-haplogroup-associated variants. MITOMASTER permitted determination of each variant's location, amino acid change and evolutionary conservation. We found that 98% of variants were common or rare, haplogroup-associated variants, and thus unlikely to be primary cause in 80% of cases. Six variants were novel, non-haplogroup variants and thus possible contributors to disease etiology. Two with the greatest pathogenic potential were heteroplasmic, nonsynonymous variants: m.15132T>C in MT-CYB for a patient with hypertrophic dilated cardiomyopathy and m.6570G>T in MT-CO1 for a patient with myopathy. In summary, we have used our automated information system, MITOMASTER, to make a preliminary distinction between normal mtDNA variation and pathogenic mutations in patient samples; this fast and easy approach allowed us to select the variants for traditional analysis to establish pathogenicity.

Understanding the etiology of congenital disorders requires interdisciplinary research and close collaborations between clinicians, geneticists and developmental biologists. The pace of gene discovery has quickened due to advances in sequencing technology, resulting in a wealth of publicly available sequence data but also a gap between gene discovery and crucial mechanistic insights provided by studies in model systems. In this Spotlight, I highlight the opportunities for developmental biologists to engage with human geneticists and genetic resources to advance the study of congenital disorders. [ABSTRACT FROM AUTHOR]

Thus, there are three forms of CPOX: long CPOX transcribed from TIC-1, short CPOX transcribed from TIC2, and mature CPOX after proteolytic processing of the N-terminal presequence [4]. Transfection and immunostaining experiments indicated that the TIC-1 mutated CPOX only synthesized short CPOX and that mature CPOX can be produced from short CPOX in the cytoplasm. Daimon, E. Gojyou, M. Sugawara, K. Yamatani, A novel missense mutation in exon 4 of the human coproporphyrinogen oxidase gene in two patients with hereditary coproporphyria. [Extracted from the article]

MaizeMine is the data mining resource of the Maize Genetics and Genome Database (MaizeGDB; http://maizemine.maizegdb.org). It enables researchers to create and export customized annotation datasets that can be merged with their own research data for use in downstream analyses. MaizeMine uses the InterMine data warehousing system to integrate genomic sequences and gene annotations from the Zea mays B73 RefGen_v3 and B73 RefGen_v4 genome assemblies, Gene Ontology annotations, single nucleotide polymorphisms, protein annotations, homologs, pathways, and precomputed gene expression levels based on RNA-seq data from the Z. mays B73 Gene Expression Atlas. MaizeMine also provides database cross references between genes of alternative gene sets from Gramene and NCBI RefSeq. MaizeMine includes several search tools, including a keyword search, built-in template queries with intuitive search menus, and a QueryBuilder tool for creating custom queries. The Genomic Regions search tool executes queries based on lists of genome coordinates, and supports both the B73 RefGen_v3 and B73 RefGen_v4 assemblies. The List tool allows you to upload identifiers to create custom lists, perform set operations such as unions and intersections, and execute template queries with lists. When used with gene identifiers, the List tool automatically provides gene set enrichment for Gene Ontology (GO) and pathways, with a choice of statistical parameters and background gene sets. With the ability to save query outputs as lists that can be input to new queries, MaizeMine provides limitless possibilities for data integration and meta-analysis. [ABSTRACT FROM AUTHOR]

The article discusses Progranulin (PGRN) has a secreted pleiotropic glycoprotein associated with the development of common neurodegenerative diseases. Topics include the pathophysiological role of PGRN has helped uncover biological underpinnings; and loss-of-function animal models revealed that potential pathogenesis mechanisms have involved neuroinflammation, autophagy, and cell signaling.

The various clustering methods are widely applied in analyzing biological interaction networks, such as the protein–protein interaction and the genetic interaction networks. With the rapid growth of these biological datasets in scale, much longer runtime is required to make cluster analyses on them. In this paper, we propose a novel parallel Markov clustering (MCL) method based on the ELLPACK-R sparse matrix format that can run on multiple graphic processing units (GPUs) equipped standalone computers. The method is implemented using the Compute Unified Device Architecture (CUDA) programming framework, and fine-grained warp-level optimization is introduced for improving the performance. The BioGRID, a large-scale and freely accessible database of protein and genetic interactions, is adopted as the dataset in the experiment. The method has been assessed on a desktop computer equipped with two NVIDIA GTX 1070 GPUs. The results show that the proposed multi-GPU method can conduct MCL clustering on the full-size BioGRID database with about 6.5 min, that is much faster than the CPU serial MCL implementation which needs almost an hour and a half execution time. [ABSTRACT FROM AUTHOR]

Online databases containing genetic information are crucial to extract new candidate genes from existing data and web‐based resources. The objective of this study was, therefore, to predict putative candidate genes associated with resistance to SBR in line UG‐5 and understand their functions using different bioinformatics tools from the online available databases. The physical positions for the flanking markers of the identified putative QTLs were searched on the SoyBase database genome browser based on Glyma 1.01 assembly. The putative candidate genes and annotated functions of the surrounding genes were discovered in the vicinity using SoyBase and Phytozome databases. A total of 18 putative candidate genes were predicted on approximately 482.7 kb region of QTL‐3 (chromosome 18), among which, six putative candidate genes were found to encode leucine‐rich repeat (LRR), Ser/Thr protein phosphatase, leucine‐rich repeat receptor‐like protein kinase (LRR‐RLK) and chitinase‐related proteins, which are associated with plant defence signalling pathways. Moreover, F‐box and leucine‐rich repeat, glycosyltransferase family member and serine/threonine‐protein phosphatase 2A catalytic subunit coding genes were predicted on the novel putative QTL detected on chromosome 9. This information could, therefore, be used for further prediction and annotation of candidate genes from sequenced regions of line UG‐5 as these putative candidate genes were predicted from the Glyma 1.01 assembly. [ABSTRACT FROM AUTHOR]

Background: Leukodystrophies are genetic diseases affecting the white matter and leading to early death. Our objective was to determine leukodystrophy incidence, using genomics sequencing databases allele frequencies of disease-causing variants.Methods: From 49 genes, representing the standardly defined group of leukodystrophies, we identified potential disease-causing variants from publications in the Human Genetic Mutation Database and from predictions in the Genome Aggregation Database. Allele frequencies were estimated from Genome Aggregation Database. Allele frequencies for each gene were summed to generate a super allele frequency and we used the Hardy-Weinberg equation to calculate overall expected live birth incidence associated with the gene in question.Results: We identified 4564 pathogenic variants for 25 discrete leukodystrophies. The largest effect was from GALC variants (Krabbe disease), which had a predicted incidence of one in 12,080 live births, 8.3 times higher than published estimates. The second most frequently predicted leukodystrophy was the RNA polymerase III-related disorders, which had an incidence of 1:26,160. Overall, we found a leukodystrophy incidence of 1 in 4733 live births, significantly higher than previous estimates.Conclusions: Our data are consistent with a significant underdiagnosis of leukodystrophy patients. An intriguing additional consideration is that there may be genetic modifiers that lead to weaker, absent, or adult-onset disease phenotypes. [ABSTRACT FROM AUTHOR]

In this study, Bassaniodes pseudorectilineus (Wunderlich, 1995) (Thomisidae) populations were investigated genetically using the mitochondrial COI gene region. The haplotypes of the populations were determined, network analyses and neutrality tests were performed, and a BEAST (Bayesian evolutionary analysis sampling tree) was created. The populations were not completely separated from each other and that ongoing gene flow was maintained between the populations. The Bassaniodes pseudorectilineus population expanded from south to north and it is thought that the ancestral population is in the south. In addition, the study enabled recording of the taxon in genetic databases for the first time. [ABSTRACT FROM AUTHOR]

Numerous eligible articles investigated the potential impact of the promoter region of UCP2 (rs659366) variant and the susceptibility for obesity with questionable outcomes. Our team designed this case–control combined with meta-analysis survey to illustrate the contribution of this variant with obesity. This case–control survey was formulated based on 110 obese Egyptian patients and 122 non-obese controls. Genomic DNA was amplified for ascertaining of UCP2 (G-866A; rs659366) variant exploiting the PCR–RFLP technique. A literature search was completed to investigate the involvement of this variant with obesity from various genetic databases. In this case–control study, the distribution of UCP2 (rs659366) variant showed a significant association with obesity among Egyptian subjects under allelic and dominant models (P value = 0.0006 and < 0.001, respectively). Overall, twenty-five comparisons for this variant (8652 obese patients and 10,075 non-obese controls) were recruited in this meta-analysis survey. A noteworthy association of UCP2 (rs659366) variant with obesity was identified among Asians and Africans but not Caucasians under allelic, dominant as well as heterozygote models. Nevertheless, this meta-analysis could not accomplish a noticeable association with overall subjects under different genetic models. This case-controlled study revealed a robust association for UCP2 (rs659366) variant with obesity susceptibility in Egyptian subjects; however, this meta-analysis survey failed to achieve an association for this variant with obesity in overall subjects except among Asians and Africans. [ABSTRACT FROM AUTHOR]

Purpose: Utilization of genetic databases to identify genes involved in ulcerative colitis (UC), Crohn's disease (CD), and their extra-intestinal manifestations. Methods: Protein coding genes involved in ulcerative colitis (3783 genes), Crohn's disease (3980 genes), uveitis (1043 genes), arthritis (5583 genes), primary sclerosing cholangitis (PSC) (1313 genes), and pyoderma gangrenosum (119 genes) were categorized using four genetic databases. These include Genecards: The Human Gene Database (www.genecards.org), DisGeNET (https://www.disgenet.org/), The Comparative Toxicogenomics Database (http://ctdbase.org/) and the Universal Protein Resource (https://www.uniprot.org/). NDex, Network Data Exchange (http://www.ndexbio.org/), was then utilized for mapping a unique signal pathway from the identified shared genes involved in the above disease processes. Results: We have detected a unique array of 20 genes with the highest probability of overlay in UC, CD, uveitis, arthritis, pyoderma gangrenosum, and PSC. Figure 1 represents the interactome of these 20 protein coding genes. Of note, unique immune modulators in different disease processes are also noted. Interleukin-25 (IL-25) and monensin-resistant homolog 2 (MON-2) are only noted in UC, CD, pyoderma gangrenosum, and arthritis. Arachidonate 5-lipoxygenase (ALOX5) is involved in UC, CD, and arthritis. SLCO1B3 is exclusively involved with pyoderma gangrenosum, UC, and CD. As expected, TNF involvement is noted in CD, UC, PSC, and arthritis. Table 1 depicts the detailed result. Conclusion: Our work has identified a distinctive set of genes involved in IBD and its associated extra-intestinal disease processes. These genes play crucial roles in mechanisms of immune response, inflammation, and apoptosis and further our understanding of this complex disease process. We postulate that these genes play a critical role at intersecting pathways involved in inflammatory bowel disease, and these novel molecules, their upstream and downstream effectors, are potential targets for future therapeutic agents. [ABSTRACT FROM AUTHOR]

The use of genetic databases by the police and justice system has risen dramatically over the last 20 years, particularly in France, which has the second largest database in Europe. In such a context, this article analyses the legal and scientific effects of the forensic use of DNA on the formation of individuals' (bio)identities in France. More specifically, we adopt a line of investigation that builds out from forms of resistance to genetic databases. Our methodology draws on a series of interviews and observations of legal proceedings against people who have refused to give DNA samples. In the first part of this text, we focus on the 'jurisdiction effects' of the DNA database being expanded to populations, showing that legal classifications (offender, suspect, etc.) constitute a key issue for these opponents. We then go on to analyse the 'veridiction effects' at work among social actors, in terms of the medical information/information related to origin that is conveyed (or not) by DNA profiles. In conclusion, we show that genetic analyses applied in a criminal context to populations, rather than simply individuals, shift (bio)identities through these dual effects, which form the basis of opponents' resistance to genetic databases. [ABSTRACT FROM AUTHOR]

To further assess the scale and level of parental somatic mosaicism, we queried the CMA database at Baylor Genetics. We selected 50 unrelated families where clinically relevant apparent de novo CNV-deletions were found in the affected probands. Parental blood samples screening using deletion junction-specific PCR revealed four parents with somatic mosaicism. Droplet digital PCR (ddPCR), qPCR, and amplicon-based next-generation sequencing (NGS) were applied to validate these findings. Using ddPCR levels of mosaicism ranged from undetectable to 18.5%. Amplicon-based NGS and qPCR for the father with undetectable mosaicism was able to detect mosaicism at 0.39%. In one mother, ddPCR analysis revealed 15.6%, 10.6%, 8.2%, and undetectable levels of mosaicism in her blood, buccal cells, saliva, and urine samples, respectively. Our data suggest that more sensitive and precise methods, e.g. CNV junction-specific LR-PCR, ddPCR, or qPCR may allow for a more refined assessment of the potential disease recurrence risk for an identified variant. • The scale and levels of low-level parental somatic mosaicism are incompletely understood. • We propose an approach for more effective detection of low-level parental somatic mosaicism for CNV deletions for a more accurate assessment and estimate of disease recurrence risk. [ABSTRACT FROM AUTHOR]

The Erythraean species of mantis shrimp, Erugosquilla massavensis, has been reported as the first Lessepsian migrant stomatopod to the Mediterranean Sea in 1933, off Alexandria, Egypt via the Suez Canal. Currently, it extended to the middle and western Mediterranean competing with the native spot-tail mantis shrimp Squilla mantis (Linnaeus, 1758). The continuous increase of invasive species to the Mediterranean claimed the necessity to update and revise the identification of those early migrants. The present study aimed to confirm the morphological identification of E. massavensis from the coast of the Egyptian Mediterranean Sea using the DNA barcoding gene cytochrome oxidase subunit I (COI) and conducting a phylogenetic analysis. Genomic DNA of samples collected from the Mediterranean Sea at Port Said in 2016 was extracted and COI was amplified and sequenced. Our phylogenetic analysis revealed that E. massavensis (MH447072 and MH447073) constitutes a single monophyletic clade and appeared more linked with E. woodmasoni than the Japanese mantis shrimp Oratosquilla oratoria (divergence value < 3%). The phylogenetic relationship between E. massavensis, E. woodmasoni, and O. oratoria was confirmed by the Neighbor-Joining tree. The present study confirmed the morphological identification and document, for the first time in GenBank/EMBL/ DDBJ genetic databases, the genetic status of E. massavensis from the Mediterranean of Egypt using COI. [ABSTRACT FROM AUTHOR]

The population diversity of the Euro-Siberian species Meromyza nigriseta Fedoseeva, 1960 was analysed using morphometric and molecular genetic data obtained (CO1 mtDNA locus) based on 12 populations from the central part of its geographical range. The colour variations of the mid mesonotal stripes were insufficient for identification of inter-population diversity. The size of the anterior processes of postgonites (AP) and the unique sequence of the CO1 mtDNA gene can serve as markers of the population diversity. Seven haplotypes with genetic distance from 0.1 to 0.3% were identified. We recorded H1 haplotype in samples from all regions, except Tula (T), Brest (B) and Kaliningrad (Kl) populations. The load-graph in the plane of the principal components revealed a strong influence of the total (St) and main (Smap) part of AP. The Moscow (M) and Ural (Ur) populations of M. nigriseta differed most substantially from T and Kl populations by the projecting part of the area of AP (Spap), Smap and St. In addition, St of AP increased from Ur to the western population and Smap from U to Kl ones. Meromyza nigriseta originated in the grasslands and steppe ecosystems of Eastern Europe and then during the period from 44,000 to 130,000 years invaded new regions. [ABSTRACT FROM AUTHOR]

Biodiversity monitoring via environmental DNA, particularly metabarcoding, is evolving into a powerful assessment tool for riverine systems. However, for metabarcoding to be fully integrated into standardized monitoring programmes, some current challenges concerning sampling design, laboratory workflow, and data analysis need to be overcome. Here, we review some of these major challenges and potential solutions. We further illustrate three potential pitfalls, namely the choice of suitable metabarcoding primers, the necessity of complete reference databases, and varying assay sensitivities, by a reappraisal of our‐own recently carried out metabarcoding study in the Volga headwaters. TaqMan qPCRs had detected catfish (Silurus glanis) and European eel (Anguilla anguilla), whereas metabarcoding had not, in the same samples. Furthermore, after extending the genetic reference database by 12 additional species and re‐analysing the metabarcoding data, we additionally detected the Siberian spiny loach (Cobitis sibirica) and Ukrainian brook lamprey (Eudontomyzon mariae) and reassigned the operational taxonomic units previously assigned to Misgurnus fossilis to Cobitis sibirica. In silico analysis of metabarcoding primer efficiencies revealed considerable variability among primer pairs and among target species, which could lead to strong primer bias and potential false‐negatives in metabarcoding studies if not properly compensated for. These results highlight some of the pitfalls of eDNA‐metabarcoding as a means of monitoring fish biodiversity in large rivers, which need to be considered in order to fully unleash the full potential of these approaches for freshwater biodiversity monitoring. [ABSTRACT FROM AUTHOR]

Background: Cardiovascular diseases are the leading causes of mortality worldwide. One reason behind this lethality lies in the fact that often cardiovascular illnesses develop into systemic failure due to the multiple connections to organismal metabolism. This in turn is associated with co-morbidities and multimorbidity. The prevalence of coexisting diseases and the relationship between the molecular origins adds to the complexity of the management of cardiovascular diseases and thus requires a profound knowledge of the genetic interaction of diseases. Objective: In order to develop a deeper understanding of this phenomenon, we examined the patterns of comorbidity as well as their genetic interaction of the diseases (or the lack of evidence of it) in a large set of cases diagnosed with cardiovascular conditions at the national reference hospital for cardiovascular diseases in Mexico. Methods: We performed a cross-sectional study of the National Institute of Cardiology. Socioeconomic information, principal diagnosis that led to the hospitalization and other conditions identified by an ICD-10 code were obtained for 34,099 discharged cases. With this information a cardiovascular comorbidity networks were built both for the full database and for ten 10-years age brackets. The associated cardiovascular comorbidities modules were found. Data mining was performed in the comprehensive ClinVar database with the disease names (as extracted from ICD-10 codes) to establish (when possible) connections between the genetic associations of the genetic interaction of diseases. The rationale is that some comorbidities may have a stronger genetic origin, whereas for others, the environment and other factors may be stronger. Results: We found that comorbidity networks are highly centralized in prevalent diseases, such as cardiac arrhythmias, heart failure, chronic kidney disease, hypertension, and ischemic diseases. Said comorbidity networks are actually modular on their connectivity. Modules recapitulate physiopathological commonalities, e.g., ischemic diseases clustering together. This is also the case of chronic systemic diseases, of congenital malformations and others. The genetic and environmental commonalities behind some of the relations in these modules were also found by resorting to clinical genetics databases and functional pathway enrichment studies. Conclusions: This methodology, hence may allow the clinician to look up for non-evident comorbidities whose knowledge will lead to improve therapeutically designs. By continued and consistent analysis of these types of patterns, we envisaged that it may be possible to acquire, strong clinical and basic insights that may further our advance toward a better understanding of cardiovascular diseases as a whole. Hopefully these may in turn lead to further development of better, integrated therapeutic strategies. [ABSTRACT FROM AUTHOR]

Sudden cardiac death (SCD) is an important cause of mortality worldwide. It accounts for approximately half of all deaths from cardiovascular disease. While coronary artery disease and acute myocardial infarction account for the majority of SCD in the elderly population, inherited cardiac diseases (inherited CDs) comprise a substantial proportion of younger SCD victims with a significant genetic component. Currently, the use of next-generation sequencing enables the rapid analysis to investigate relationships between genetic variants and inherited CDs causing SCD. Genetic contribution to risk has been considered an alternate predictor of SCD. In the past years, large numbers of SCD susceptibility variants were reported, but these results are scattered in numerous publications. Here, we present the SCD-associated Variants Annotation Database (SVAD) to facilitate the interpretation of variants and to meet the needs of data integration. SVAD contains data from a broad screening of scientific literature. It was constructed to provide a comprehensive collection of genetic variants along with integrated information regarding their effects. At present, SVAD has accumulated 2,292 entries within 1,239 variants by manually surveying pertinent literature, and approximately one-third of the collected variants are pathogenic/likely-pathogenic following the ACMG guidelines. To the best of our knowledge, SVAD is the most comprehensive database that can provide integrated information on the associated variants in various types of inherited CDs. SVAD represents a valuable source of variant information based on scientific literature and benefits clinicians and researchers, and it is now available on http://svad.mbc.nctu.edu.tw/. [ABSTRACT FROM AUTHOR]

Pleiotropy—when a single mutation affects multiple traits—is a controversial topic with far-reaching implications. Pleiotropy plays a central role in debates about how complex traits evolve and whether biological systems are modular or are organized such that every gene has the potential to affect many traits. Pleiotropy is also critical to initiatives in evolutionary medicine that seek to trap infectious microbes or tumors by selecting for mutations that encourage growth in some conditions at the expense of others. Research in these fields, and others, would benefit from understanding the extent to which pleiotropy reflects inherent relationships among phenotypes that correlate no matter the perturbation (vertical pleiotropy). Alternatively, pleiotropy may result from genetic changes that impose correlations between otherwise independent traits (horizontal pleiotropy). We distinguish these possibilities by using clonal populations of yeast cells to quantify the inherent relationships between single-cell morphological features. Then, we demonstrate how often these relationships underlie vertical pleiotropy and how often these relationships are modified by genetic variants (quantitative trait loci [QTL]) acting via horizontal pleiotropy. Our comprehensive screen measures thousands of pairwise trait correlations across hundreds of thousands of yeast cells and reveals ample evidence of both vertical and horizontal pleiotropy. Additionally, we observe that the correlations between traits can change with the environment, genetic background, and cell-cycle position. These changing dependencies suggest a nuanced view of pleiotropy: biological systems demonstrate limited pleiotropy in any given context, but across contexts (e.g., across diverse environments and genetic backgrounds) each genetic change has the potential to influence a larger number of traits. Our method suggests that exploiting pleiotropy for applications in evolutionary medicine would benefit from focusing on traits with correlations that are less dependent on context. Pleiotropy has been studied since the dawn of genetics, yet diametrically opposite views of it persist. This study presents the first massive-scale quantification of the inherent relationships between traits and of how genetic and nongenetic perturbations alter these relationships. [ABSTRACT FROM AUTHOR]

Genetic data are a crucial and exponentially growing resource across all biological sciences, yet curated databases are scarce. The widespread occurrence of sequence and (meta)data errors in public repositories calls for comprehensive improvements of curation protocols leading to robust research and downstream analyses. We collated and curated all available GenBank cytochrome-b sequences for amphibians, a benchmark marker in this globally declining vertebrate clade. The Amphibia's Curated Database of Cytochrome-b (ACDC) consists of 36,514 sequences representing 2,309 species from 398 genera (median = 2 with 50% interquartile ranges of 1–7 species/genus). We updated the taxonomic identity of >4,800 sequences (ca. 13%) and found 2,359 (6%) conflicting sequences with 84% of the errors originating from taxonomic misidentifications. The database (accessible at 10.6084/m9.figshare.9944759) also includes an R script to replicate our study for other loci and taxonomic groups. We provide recommendations to improve genetic-data quality in public repositories and flag species for which there is a need for taxonomic refinement in the face of increased rate of amphibian extinctions in the Anthropocene. Measurement(s) DNA • mitochondrial_DNA • cytochrome b Technology Type(s) digital curation • bioinformatics analysis Sample Characteristic - Organism Amphibian Machine-accessible metadata file describing the reported data: 10.6084/m9.figshare.12587744 [ABSTRACT FROM AUTHOR]

Despite guidelines recommending that all women with invasive serous ovarian cancer (SOC) are offered genetic testing, published referral and testing rates have been poor. Many centers have implemented novel genetic counseling service delivery models to increase testing rates. In light of increased awareness and implementation of small process changes at our center, this study aims to establish baseline referral rates and testing outcomes prior to diverging from the traditional model of care. A list of women diagnosed with SOC at Princess Margaret Cancer Center (PM) between 2010 and 2016 was obtained from the PM Cancer Registry and cross-referenced against the genetics database to determine referral rates and outcomes of genetic testing. Of 724 women with SOC, 68% were referred for genetic counseling, with an overall testing rate of 61%. Higher referral rates were seen among women with younger ages at diagnosis and high-grade tumors. Of women tested, 22% were found to have a pathogenic variant in BRCA1/2 and 9% in another cancer gene. Notably, 24% of women with a pathogenic variant reported no family history of breast or ovarian cancer. Genetic counseling referral and testing rates for women with SOC are higher than previously reported, yet barriers to referral remain. To maximize genetic testing rates and address increasing patient volumes, clinics may be faced with integrating novel genetic counseling delivery models. Findings from this study may serve as a more accurate baseline to which large scale service delivery changes can be compared. • The number of women with SOC referred for genetic counseling and seen for genetic testing increased from previous reports. • A significant number of BRCA1/2 carriers report no family history of breast or ovarian cancer. • Low tumor grade and late age of diagnosis are barriers to genetic counseling referral for women with SOC. [ABSTRACT FROM AUTHOR]

The enzymatic production of 2,5-furandicarboxylic acid (FDCA) from 5-hydroxy19 methylfurfural (HMF) has gained interest in recent years, as the renewable precursor of poly(ethylene-2,5-furandicarboxylate) (PEF). 5-Hydroxymethylfurfural oxidases (HMFOs) form a flavoenzyme family with genes annotated in a dozen bacterial species, but only one enzyme purified and characterized to date (after heterologous expression of a Methylovorus sp hmfo gene). This oxidase acts on both furfuryl alcohols and aldehydes being, therefore, able to catalyze the conversion of HMF into FDCA through 2,5-diformylfuran (DFF) and 2,5-formylfurancarboxylic acid (FFCA), with the only need of oxygen as cosubstrate. To enlarge the repertoire of HMFO enzymes available, genetic databases were screened for putative hmfo genes, followed by heterologous expression in Escherichia coli. After unsuccessful trials with other bacterial hmfo genes, HMFOs from two Pseudomonas species were produced as active soluble enzymes, purified and characterized. The Methylovorus sp enzyme was also produced and purified in parallel for comparison. Enzyme stability against temperature, pH and hydrogen peroxide, three key aspects for application, were evaluated (together with optimal conditions for activity) revealing differences between the three HMFOs. Also the kinetic parameters for HMF, DFF and FFCA oxidation were determined, having the new HMFOs higher efficiencies for the oxidation of FFCA, which constitutes the bottleneck in the enzymatic route for FDCA production. These results were used to set up the best conditions for FDCA production by each enzyme, attaining a compromise between optimal activity and half-life under different operation conditions. [ABSTRACT FROM AUTHOR]

Background: Functional movement disorders (FMDs), part of the wide spectrum of functional neurological disorders (conversion disorders), are common and often associated with a poor prognosis. Nevertheless, little is known about their neurobiological underpinnings, particularly with regard to the contribution of genetic factors. Because FMD and stress-related disorders share a common core of biobehavioural manifestations, we investigated whether variants in stress-related genes also contributed, directly and interactively with childhood trauma, to the clinical and circuit-level phenotypes of FMD.Methods: Sixty-nine patients with a 'clinically defined' diagnosis of FMD were genotyped for 18 single-nucleotide polymorphisms (SNPs) from 14 candidate genes. FMD clinical characteristics, psychiatric comorbidity and symptomatology, and childhood trauma exposure were assessed. Resting-state functional connectivity data were obtained in a subgroup of 38 patients with FMD and 38 age-matched and sex-matched healthy controls. Amygdala-frontal connectivity was analysed using a whole-brain seed-based approach.Results: Among the SNPs analysed, a tryptophan hydroxylase 2 (TPH2) gene polymorphism-G703T-significantly predicted clinical and neurocircuitry manifestations of FMD. Relative to GG homozygotes, T carriers were characterised by earlier FMD age of onset and decreased connectivity between the right amygdala and the middle frontal gyrus. Furthermore, the TPH2 genotype showed a significant interaction with childhood trauma in predicting worse symptom severity.Conclusions: This is, to our knowledge, the first study showing that the TPH2 genotype may modulate FMD both directly and interactively with childhood trauma. Because both this polymorphism and early-life stress alter serotonin levels, our findings support a potential molecular mechanism modulating FMD phenotype. [ABSTRACT FROM AUTHOR]

Background: Finding long matches in deoxyribonucleic acid (DNA) sequences in large aligned genetic sequences is a problem of great interest. A paradigmatic application is the identification of distant relatives via large common subsequences in DNA data. However, because of the sensitive nature of genomic data such computations without security consideration might compromise the privacy of the individuals involved. Methods: The secret sharing technique enables the computation of matches while respecting the privacy of the inputs of the parties involved. This method requires interaction that depends on the circuit depth needed for the computation. Results: We design a new depth-optimized algorithm for computing set-maximal matches between a database of aligned genetic sequences and the DNA of an individual while respecting the privacy of both the database owner and the individual. We then implement and evaluate our protocol. Conclusions: Using modern cryptographic techniques, difficult genomic computations are performed in a privacy-preserving way. We enrich this research area by proposing a privacy-preserving protocol for set-maximal matches. [ABSTRACT FROM AUTHOR]

The Allegheny woodrat (Neotoma magister) is a species of high conservation concern and relatively well-studied with respect to habitat use/associations, food habits, conservation genetics, and population trends. However, with the exception of raccoon roundworm (Baylisascaris procyonis) occurrence and etiology in woodrats, most disease and parasite ecology aspects for the woodrat are unknown. Herein, we examined the prevalence of bot flies (Cuterebra) over nearly three decades of woodrat surveys (1990–2018) in the central Appalachian Mountains of western Virginia. We use genetic analyses to identify recent bot fly specimen collections from a woodrat captured in 2017. Though highly variable from year to year, the overall prevalence of parasitism was low (typically < 4% of captures). As such, bot flies do not appear to be a widespread parasitic burden to Allegheny woodrats in Virginia. Genetic analysis of four collected bot fly larvae was inconclusive, as the genetic signature of these woodrat bots did not match any of the six bot species known to parasitize rodents and lagomorphs in the eastern United States. Further collections and genetic analyses will be needed to determine if the genetic database is incomplete or incorrect, or if our find is a new species of bot fly not yet taxonomically recognized. [ABSTRACT FROM AUTHOR]

Routine endurance exercise confers numerous health benefits, and high intensity exercise may accelerate and magnify many of these benefits. To date, explanatory molecular mechanisms and the influence of exercise intensity remain poorly understood. Circulating factors are hypothesized to transduce some of the systemic effects of exercise. We sought to examine the role of exercise and exercise intensity on the human plasma proteome. We employed an aptamer-based method to examine 1,305 plasma proteins in 12 participants before and after exercise at two physiologically defined intensities (moderate and high) to determine the proteomic response. We demonstrate that the human plasma proteome is responsive to acute exercise in an intensity-dependent manner with enrichment analysis suggesting functional biological differences between the moderate and high intensity doses. Through integration of available genetic data, we estimate the effects of acute exercise on exercise-associated traits and find proteomic responses that may contribute to observed clinical effects on coronary artery disease and blood pressure regulation. In sum, we provide supportive evidence that moderate and high intensity exercise elicit different signaling responses, that exercise may act in part non-cell autonomously through circulating plasma proteins, and that plasma protein dynamics can simulate some the beneficial and adverse effects of acute exercise. [ABSTRACT FROM AUTHOR]

Modern biological models based on stress-diathesis consider suicide an independent form of behavior, which is the basis for the search for specific genetic markers. The current review embraces all presently existing GWAS studies of suicidal phenotypes (suicidal ideation, attempts, and completed suicides). Fifteen studies based on this strategy and using different approaches to data analysis, including comparisons with existing databases on psychiatric genetics, pathway analysis, protein-protein interactions, functional grouping of genes, and enrichment analysis are discussed. In contrast to the candidate gene studies which intensively discussed associations with neurotransmitter systems of the brain (indol- and catecholamines, GABA, excitatory aminoacids, etc.), GWAS suggest a rather different set of factors. Many findings are among the genes involved in neurodevelopment, neuroplasticity, cell adhesion and migration, proliferation, and intracellular signaling, as well as immune system functioning. We consider that this confirms the relevance of the stress-vulnerability models implying a key role of the early development, which affects neuroplasticity. Stress as a systemic reaction of the organism demonstrates a significant role in the genesis of suicidal behavior. It should be noted that findings of different studies rarely coincide, thus demonstrating heterogeneous findings. This may be due to differences in bioinformatics approaches, description of phenotypes, and design of the study. Future accumulation of data especially considering the ethnic factor, increase in the sample size, and meta-analyses may clarify the polygenic nature of suicidal behavior and identify genetic markers that are valuable for both understanding the pathogenesis of suicidality and suicide prediction and prevention. [ABSTRACT FROM AUTHOR]

This article reviews genetic and rare disease resources from the National Library of Medicine and National Institutes of Health that assist patients and their families to decipher the complexity of rare and genetically related diseases. Librarians can use these resources to guide those seeking genetic information that encompasses the medical, social, psychological, and financial aspects of living with a rare disease. Physicians and healthcare professionals will find these resources helpful when assisting patients and engaging in genetic research. [ABSTRACT FROM AUTHOR]

Objective: The hippocampus is a key structure in feeding behaviors and weight regulation. Obesity may lead to disruptions in hippocampal structure. In animals, obesity-related factors (e.g., high-fat/sugar foods) are associated with hippocampal insult (e.g., alterations in the blood brain barrier). In humans, individuals with obesity, relative to healthy weight, have smaller hippocampal volumes. Few studies have examined the association between body weight and the hippocampus during adolescence, a critical brain development period. This study examined hippocampal volume and tissue signal intensity in adolescents across the weight spectrum.Methods: Structural magnetic resonance imaging and anthropomorphic data were available for 102 12- to 18-year-old adolescents (53% female; 15.07 [SD 1.84] years; standardized BMI [BMIz] scores using the Centers for Disease Control and Prevention growth charts: 0.54 [SD 1.17]) from the Pediatric Imaging, Neurocognition, and Genetics database. Linear regression models controlling for age, sex, genetic ancestry, scanner, and household income examined the relationship between BMIz, hippocampal volume, and T2-weighted hippocampal signal intensity.Results: BMIz was negatively associated with T2-weighted hippocampal signal intensity in the left (t = -3.05; P = 0.003; r = -0.21) and right (t = -2.50; P = 0.01; r = -0.36) hippocampi. BMIz was not significantly associated with hippocampal volume.Conclusions: BMIz is associated with hippocampal tissue characteristics during adolescence, which could impact later brain development. [ABSTRACT FROM AUTHOR]