secondary variants
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2021 ◽  
Author(s):  
◽  
Jane Flynn

<p>In the literature acts of violence are often divided into two dichotomous subtypes: instrumental and reactive violence. The two types of violence are considered to be underpinned by different theoretical paradigms, social learning theory and frustration aggression. This division, although widely criticised and lacking conceptual clarity, appears to be generally accepted in scientific literature. This exploratory study used multidimensional scaling and cluster analysis to see how violence characteristics co-occur in the offences of seriously violent psychopathic offenders; and whether the co-occurrence of offence variables could be explained by the instrumental and reactive dichotomy. The study also explored whether instrumental and reactive violence characteristics differentiate primary and secondary variants of psychopathy, with the hypotheses that primary psychopaths would show more instrumental features in their violence and secondary psychopaths show more reactive features. Findings show that violence characteristics do no co-occur as a mutually exclusive dichotomy and that rather, many violent acts have mix of reactive and instrumental characteristics, reflecting a dimensional rather than a dichotomous structure. This in turn suggests that act specific theories may not be necessary to describe different types of violence. Contrary to prediction, psychopathic subtypes did not differ on violence characteristics.</p>


2021 ◽  
Author(s):  
◽  
Jane Flynn

<p>In the literature acts of violence are often divided into two dichotomous subtypes: instrumental and reactive violence. The two types of violence are considered to be underpinned by different theoretical paradigms, social learning theory and frustration aggression. This division, although widely criticised and lacking conceptual clarity, appears to be generally accepted in scientific literature. This exploratory study used multidimensional scaling and cluster analysis to see how violence characteristics co-occur in the offences of seriously violent psychopathic offenders; and whether the co-occurrence of offence variables could be explained by the instrumental and reactive dichotomy. The study also explored whether instrumental and reactive violence characteristics differentiate primary and secondary variants of psychopathy, with the hypotheses that primary psychopaths would show more instrumental features in their violence and secondary psychopaths show more reactive features. Findings show that violence characteristics do no co-occur as a mutually exclusive dichotomy and that rather, many violent acts have mix of reactive and instrumental characteristics, reflecting a dimensional rather than a dichotomous structure. This in turn suggests that act specific theories may not be necessary to describe different types of violence. Contrary to prediction, psychopathic subtypes did not differ on violence characteristics.</p>


Genes ◽  
2021 ◽  
Vol 12 (9) ◽  
pp. 1300
Author(s):  
Rajan Kumar Jha ◽  
Chhavi Dawar ◽  
Qurratulain Hasan ◽  
Akhilesh Pujar ◽  
Gaurav Gupta ◽  
...  

Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disorder that causes loss of central vision. Three primary variants (m.3460G>A, m.11778G>A, and m.14484T>C) and about 16 secondary variants are responsible for LHON in the majority of the cases. We investigated the complete mitochondrial DNA (mtDNA) sequences of 189 LHON patients and found a total of 54 disease-linked pathogenic variants. The primary variants m.11778G>A and m.14484T>C were accountable for only 14.81% and 2.64% cases, respectively. Patients with these two variants also possessed additional disease-associated variants. Among 156 patients who lacked the three primary variants, 16.02% harboured other LHON-associated variants either alone or in combination with other disease-associated variants. Furthermore, we observed that none of the haplogroups were explicitly associated with LHON. We performed a meta-analysis of m.4216T>C and m.13708G>A and found a significant association of these two variants with the LHON phenotype. Based on this study, we recommend the use of complete mtDNA sequencing to diagnose LHON, as we found disease-associated variants throughout the mitochondrial genome.


2021 ◽  
Author(s):  
Zena Lapp ◽  
Jennifer H Han ◽  
Divya Choudhary ◽  
Stuart Castaneda ◽  
Ali Pirani ◽  
...  

To combat antibiotic resistance, it is critical to improve our understanding of how new resistant strains emerge and spread. An antibiotic resistance threat of critical priority is the epidemic ST258 strain of carbapenem-resistant Klebsiella pneumoniae (CRKP). Here, we studied the spread of resistance among ST258 to an antibiotic of last resort, colistin, by tracking its evolution across 21 U.S. long-term acute care hospitals over the course of a year. Phylogenetic analysis suggested that a significant cost was associated with colistin resistance in most cases, as resistance emergence was common but resistance variants were rarely transmitted. The high cost of resistance was further supported by the observation that several of the resistance variants that were transmitted had acquired secondary variants that reverted the strain to colistin susceptibility. The exceptions to the general pattern of instability associated with colistin resistance were two large clusters of resistant strains in one ST258 clade II sublineage (clade IIB) present across 11 of the 12 sampled Southern California hospitals. Quantification of transmission fitness in the healthcare environment using time-scaled haplotypic density indicated that while resistant isolates from other clades were less fit than their susceptible counterparts, clade IIB resistant isolates were more fit. Overlaying patient clinical data suggested that the increased fitness of colistin-resistant clade IIB isolates is in part driven by a lineage defining variant that increased clade IIB's association with patient subpopulations who were more likely to be treated with colistin. These results show that a favorable genetic background and sustained selective pressure led to the emergence and spread of a colistin-resistant ST258 sublineage across a regional healthcare network. More broadly, these findings highlight the utility of integrating pathogen genomic and corresponding clinical data from regional healthcare networks to detect and understand the origin and dissemination of antibiotic resistance threats.


2021 ◽  
pp. 1-13
Author(s):  
Pedro Pechorro ◽  
Matt DeLisi ◽  
Joana Andrade ◽  
Rui Abrunhosa Gonçalves ◽  
Jorge Quintas

2020 ◽  
Author(s):  
shu li ◽  
li haoyu ◽  
xiao neng ◽  
lin yixiang ◽  
yu wenxian ◽  
...  

Abstract Background:There was a lacking of clinical diagnostic evidence in follow-up studies for reporting of secondary variants in 59 genes in American College of Medical Genetics and Genomics recommendations for reporting secondary findings and various strategies were applied to interpret the secondary variants. Results: Out of 1330 participants performed whole-exome sequencing, we identified 15 families with convincing clinical evidence. After Sanger validation and a comprehensive clinical follow-up, 10 families with both convincing clinical evidence and convincing genetic evidence of hereditary variants were found. Detailed clinical presentations and related clinical evidence were collected. Conclusions: Our research is a comprehensive follow-up study to identify secondary variants with convincing genetic and clinical evidence and it could help improve the strategy of screening actionable secondary variants and contribute to translation of genetic findings into medical practice.


2018 ◽  
Vol 3 (12) ◽  
pp. 1013-1021 ◽  
Author(s):  
Arjun Sethi ◽  
Eamon McCrory ◽  
Vanessa Puetz ◽  
Ferdinand Hoffmann ◽  
Annchen R. Knodt ◽  
...  
Keyword(s):  

2018 ◽  
Vol 9 (5) ◽  
pp. 408-419 ◽  
Author(s):  
Olivier F. Colins ◽  
Kostas A. Fanti ◽  
Randall T. Salekin ◽  
Eva Mulder ◽  
Henrik Andershed

2018 ◽  
Author(s):  
Maria Kousi ◽  
Onuralp Söylemez ◽  
Aysegül Ozanturk ◽  
Sebastian Akle ◽  
Irwin Jungreis ◽  
...  

AbstractThe influence of genetic background on driver mutations is well established; however, the mechanisms by which the background interacts with Mendelian loci remains unclear. We performed a systematic secondary-variant burden analysis of two independent Bardet-Biedl syndrome (BBS) cohorts with known recessive biallelic pathogenic mutations in one of 17 BBS genes for each individual. We observed a significant enrichment of trans-acting rare nonsynonymous secondary variants compared to either population controls or to a cohort of individuals with a non-BBS diagnosis and recessive variants in the same gene set. Strikingly, we found a significant over-representation of secondary alleles in chaperonin-encoding genes, a finding corroborated by the observation of epistatic interactions involving this complex in vivo. These data indicate a complex genetic architecture for BBS that informs the biological properties of disease modules and presents a model paradigm for secondary-variant burden analysis in recessive disorders.


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