Clinical Classification of Borderline Cases in the Family Study of Essential Tremor: An Analysis of Phenotypic Features

Background: In genetic research on essential tremor (ET), certain individuals may be particularly challenging to categorize diagnostically. Methods: In the Family Study of Essential Tremor (>200 enrollees), 28 participants with borderline clinical findings who did not meet strict criteria for ET were assigned final diagnoses of ET. We scrutinized the clinical features of these cases and the sensitivity/specificity of certain features that best separated them from 19 unaffected individuals. Results: Borderline ET cases differed from unaffected individuals in eight features: total tremor score, at least one kinetic tremor rating ≥1.5, at least one kinetic tremor rating ≥1.5 in the dominant arm, tremor rating during spiral drawing ≥1.5, higher spiral axis score, head tremor, complaint of tremor, and comment on tremor by others. The combination of at least one kinetic tremor rating ≥1.5 in the dominant arm and the presence of at least three of the remaining seven features predicted the clinician‐assigned diagnosis in 88.6% of borderline ET vs. unaffected individuals (sensitivity 84.6%, specificity 94.4%). Discussion: In a family study, a small number of clinical features characterized borderline ET, and a particular combination of these separated the majority of these borderline cases from normals. These analyses may help researchers minimize diagnostic misclassification

The Mathematical Nature of Reasoning-and-Proving Opportunities in Geometry Textbooks

International calls have been made for reasoning-and-proving to permeate school mathematics. It is important that efforts to heed this call are grounded in an understanding of the opportunities to reason- and-prove that already exist, especially in secondary-level geometry where reasoning-and-proving opportunities are prevalent but not thoroughly studied. This analysis of six secondary-level geometry textbooks, like studies of other textbooks, characterizes the justifications given in the exposition and the reasoning-and-proving activities expected of students in the exercises. Furthermore, this study considers whether the mathematical statements included in the reasoning-and-proving opportunities are general or particular in nature. Findings include the fact that the majority of expository mathematical statements were general, whereas reasoning-and-proving exercises tended to involve particular mathematical statements. Although reasoning-and-proving opportunities were relatively numerous, it remained rare for the reasoning-and-proving process itself to be an explicit object of reflection. Relationships between these findings and the necessity principle of pedagogy are discussed

The Tnfrh1 (Tnfrsf23) gene is weakly imprinted in several organs and expressed at the trophoblast-decidua interface

BACKGROUND: The Tnfrh1 gene (gene symbol Tnfrsf23) is located near one end of a megabase-scale imprinted region on mouse distal chromosome 7, about 350 kb distant from the nearest known imprinting control element. Within 20 kb of Tnfrh1 is a related gene called Tnfrh2 (Tnfrsf22) These duplicated genes encode putative decoy receptors in the tumor necrosis factor (TNF) receptor family. Although other genes in this chromosomal region show conserved synteny with genes on human Chr11p15.5, there are no obvious human orthologues of Tnfrh1 or Tnfrh2. RESULTS: We analyzed Tnfrh1 for evidence of parental imprinting, and characterized its tissue-specific expression. Tnfrh1 mRNA is detectable in multiple adult and fetal tissues, with highest expression in placenta, where in situ hybridization reveals a distinctive population of Tnfrh1-positive cells in maternal decidua, directly beneath the trophoblast giant cells. In offspring of interspecific mouse crosses, Tnfrh1 shows a consistent parent-of-origin-dependent allelic expression bias, with relative repression, but not silencing, of the paternal allele in several organs including fetal liver and adult spleen. CONCLUSIONS: Genes preferentially expressed in the placenta are predicted to evolve rapidly, and Tnfrh1 appears to be an example of this phenomenon. In view of its strong expression in cells at the fetal-maternal boundary, Tnfrh1 warrants further study as a gene that might modulate immune or trophic interactions between the invasive placental trophoblast and the maternal decidua. The preferential expression of Tnfrh1 from the maternal allele indicates weak functional imprinting of this locus in some tissues

The risk and time preferences of young truants and their parents

We use an incentivized experiment to measure the risk and time preferences of truant adolescents and their parents. We find that adolescent preferences do not predict school attendance and that a unique police-school partnership program targeting school absences was most effective in reducing the truancy of adolescents with relatively risk-averse parents

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Nonparametric estimation of age-at-onset distributions from censored kin-cohort data

SUMMARY We present a nonparametric estimator of genotype-specific age-at-onset distributions from kin-cohort data. Standard error calculations are derived and the methodology is illustrated through an analysis of the influence of mutations of the Parkin gene on Parkinson's disease. Semiparametric efficiency considerations are briefly discussed

Secondary and 2-Year Outcomes of a Sexual Assault Resistance Program for University Women

We report the secondary outcomes and longevity of efficacy from a randomized controlled trial that evaluated a novel sexual assault resistance program designed for first-year women university students. Participants (N = 893) were randomly assigned to receive the Enhanced Assess, Acknowledge, Act (EAAA) program or a selection of brochures (control). Perception of personal risk, self-defense self-efficacy, and rape myth acceptance was assessed at baseline; 1-week postintervention; and 6-, 12-, 18-, and 24-month postrandomization. Risk detection was assessed at 1 week, 6 months, and 12 months. Sexual assault experience and knowledge of effective resistance strategies were assessed at all follow-ups. The EAAA program produced significant increases in women’s perception of personal risk, self-defense self-efficacy, and knowledge of effective (forceful verbal and physical) resistance strategies; the program also produced decreases in general rape myth acceptance and woman blaming over the entire 24-month follow-up period. Risk detection was significantly improved for the intervention group at post-test. The program significantly reduced the risk of completed and attempted rape, attempted coercion, and nonconsensual sexual contact over the entire follow-up period, yielding reductions between 30% and 64% at 2 years. The EAAA program produces long-lasting changes in secondary outcomes and in the incidence of sexual assault experienced by women students. Universities can reduce the harm and the negative health consequences that young women experience as a result of campus sexual assault by implementing this program. Online slides for instructors who want to use this article for teaching are available on PWQ’s website at http://journals.sagepub.com/page/pwq/suppl/index