12 research outputs found
Glossing Over: How Magazine Fact Checkers Use Conditional Self-Presentation to Straddle Glamour and Dreariness in Their Work
In this paper, we introduce the concept of Glossy Work, work that has a glamorous patina but that is actually mundane and unfulfilling. We studied magazine fact checkers, who exemplify Glossy Work, specifically examining how they balance these discrepant aspects of the job in presenting their work to others. We found that fact checkers use conditional presentation to modulate their portrayal of the work according to audience members’ knowledge of their job’s secret taint and the nature of presenter’s relationship to that audience. Presentations ranged from full disclosure to deliberate attempts to reframe the presentation to unfettered job enhancement
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis
Importance: Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation.Objective: To identify the genetic variants associated with juvenile ALS.Design, Setting, and Participants: In this multicenter family-based genetic study, trio whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation. The patients and their family members were enrolled at academic hospitals and a government research facility between March 1, 2016, and March 13, 2020, and were observed until October 1, 2020. Whole-exome sequencing was also performed in a series of patients with juvenile ALS. A total of 66 patients with juvenile ALS and 6258 adult patients with ALS participated in the study. Patients were selected for the study based on their diagnosis, and all eligible participants were enrolled in the study. None of the participants had a family history of neurological disorders, suggesting de novo variants as the underlying genetic mechanism.Main Outcomes and Measures: De novo variants present only in the index case and not in unaffected family members.Results: Trio whole-exome sequencing was performed in 3 patients diagnosed with juvenile ALS and their parents. An additional 63 patients with juvenile ALS and 6258 adult patients with ALS were subsequently screened for variants in the SPTLC1 gene. De novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient) were identified in 3 unrelated patients diagnosed with juvenile ALS and failure to thrive. A fourth variant (p.Leu39del) was identified in a patient with juvenile ALS where parental DNA was unavailable. Variants in this gene have been previously shown to be associated with autosomal-dominant hereditary sensory autonomic neuropathy, type 1A, by disrupting an essential enzyme complex in the sphingolipid synthesis pathway.Conclusions and Relevance: These data broaden the phenotype associated with SPTLC1 and suggest that patients presenting with juvenile ALS should be screened for variants in this gene.</p
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.Peer reviewe
Knowing your place: Self-perceptions of status in face-to-face groups
Status is the prominence, respect, and influence individuals enjoy in the eyes of others. Theories of positive illusions suggest that individuals form overly positive perceptions of their status in face-to-face groups. In contrast, the authors argue that individuals ’ perceptions of their status are highly accurate— that is, they closely match the group’s perception of their status—because forming overly positive status self-perceptions can damage individuals ’ acceptance in a group. Therefore, the authors further argue that individuals are likely to refrain from status self-enhancement to maintain their belongingness in a group. Support for their hypotheses was found in 2 studies of status in face-to-face groups, using a social relations model approach (D. A. Kenny & L. La Voie, 1984). Individuals showed high accuracy in perceiving their status and even erred on the side of being overly humble. Moreover, enhancement in status self-perceptions was associated with lower levels of social acceptance
Being distinctive versus being conspicuous: The effects of numeric status and sex-stereotyped tasks on individual performance in groups
Being in the numeric minority (e.g., being a solo woman in a group of men) influences how well a person performs within a work group. But being the solo member is only one way in which people can be atypical in a group; a person can also represent a social or demographic category that has not typically been associated with the task that the group is working on. Using a design with four categories of group composition (minority, balanced, majority, homogeneous) and two categories of tasks (sex-typical, sex-atypical) we found that the sex composition of the group interacted with the sex typicality of the task to influence both positive deferrals by group members and individual performance in groups. But, rather than consistently reducing performance as prior research has suggested, being numerically atypical enhanced individual performance when the task was typical for that person's sex. Further, positive deferrals mediated between the interaction of numeric composition and task typicality in influencing individual performance suggesting that both majority group members and the solo member affect one another's performance in groups. We conclude by discussing why understanding the interplay between these two sources of stereotyping, numeric composition and task typicality, is important for understanding the social nature of individual performance in groups.Solo status Sex-congruent tasks Diversity Relational demography Gender Groups Teams
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion
There are indications that both familial amyotrophic lateral sclerosis (ALS) and sporadic ALS phenotype and prognosis are partly regulated by genetic and environmental factors, supporting the theory that ALS is a multifactorial disease. The aim of this article was to assess the role of ATXN2 intermediate length repeats in a large series of Italian and Sardinian ALS patients and controls carrying a pathogenetic C9ORF72 GGGGCC hexanucleotide repeat. A total of 1972 ALS cases were identified through the database of the Italian ALS Genetic consortium, a collaborative effort including 18 ALS centers throughout Italy. The study population included: (1) 276 Italian and 57 Sardinian ALS cases who carried the C9ORF72 expansion; (2) 1340 Italian and 299 Sardinian ALS cases not carrying the C9ORF72 expansion. A total of healthy 1043 controls were also assessed. Most Italian and Sardinian cases and controls were homozygous for 22/22 or 23/23 repeats or heterozygous for 22/23 repeats of the ATXN2 gene. ATXN2 intermediate length repeats alleles (≥28) were detected in 3 (0.6%) Italian ALS cases carrying the C9ORF72 expansion, in none of the Sardinian ALS cases carrying the expansion, in 60 (4.3%) Italian cases not carrying the expansion, and in 6 (2.0%) Sardinian ALS cases without C9ORF72 expansion. Intermediate length repeat alleles were found in 12 (1.5%) Italian controls and 1 (0.84%) Sardinian controls. Therefore, ALS patients with C9ORF72 expansion showed a lower frequency of ATXN2 polyQ intermediate length repeats than both controls (Italian cases, p = 0.137; Sardinian cases, p = 0.0001) and ALS patients without C9ORF72 expansion (Italian cases, p = 0.005; Sardinian cases, p = 0.178). In our large study on Italian and Sardinian ALS patients with C9ORF72 GGGGCC hexanucleotide repeat expansion, compared to age-, gender- and ethnic-matched controls, ATXN2 polyQ intermediate length does not represent a modifier of ALS risk, differently from non-C9ORF72 mutated patients