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6 results

  • Chapter 27 - Genetic Disorders

  • Edited by David R. Gambling, University of California, San Diego, M. Joanne Douglas, University of British Columbia, Vancouver, Grace Lim, University of Pittsburgh
  • Book:
    Obstetric Anesthesia and Uncommon Disorders
    Published online:
    26 January 2024
    Print publication:
    01 February 2024, pp 443-455

  • Summary

    Genetic disorders commonly present or show severe manifestations early in life and in reproductive-age women. The impacts of such disorders in pregnancy are complex, often involving both mother and fetus. This chapter provides an overview of key concepts in genetics, focusing on the patterns of inheritance of monogenic disorders. The features and management of several common disorders are discussed, including alpha-1 antitrypsin deficiency, autosomal dominant polycystic kidney disease, Charcot Marie Tooth disease, Ehlers Danlos syndrome, Loeys-Dietz syndrome, glucose-6-phosphate dehydrogenase deficiency, Down syndrome, Turner syndrome, and mitochondrial disorders with a focus on management considerations, relevant for the practice of the obstetric anesthesiologist.

  • 10 - The West and the Rest: Geographic Diversity and the Role of Arbitrator Nationality in Investment Arbitration

  • from Part III - Output Legitimacy
  • Edited by Daniel Behn, Universitetet i Oslo, Ole Kristian Fauchald, Universitetet i Oslo, Malcolm Langford, Universitetet i Oslo
  • Book:
    The Legitimacy of Investment Arbitration
    Published online:
    06 January 2022
    Print publication:
    13 January 2022, pp 283-314

  • Summary

    The lack of geographic diversity among arbitrators is a common critique of investor–state dispute settlement. This has emerged as a major legitimacy problem as 80% of ISDS cases are against non-Western respondent states. In this chapter, the authors map the existing level of diversity with new methods (tracking both nationality and residence) and examine whether greater diversity would make a difference in outcomes. The descriptive statistics reveal that only a third of arbitral appointments have gone to non-Western individuals, and that this falls to 25% when residence is taken into account. However, the issue becomes more complicated when examining the effect on outcomes. The regression analysis indicates that the absence of geographic representativeness can favour Western home and host states, especially when the Chair is from the West. However, possibly due to a high degree of institutionalization and socialization of arbitrators in the system, it does not appear at present that arbitrator nationality has a significant effect on outcomes.

  • Variation in Prevalence of Rare Heritable Traits — A Simulation Study — Illustrated by Neurofibromatosis Type 1

  • Alan E. Stark
  • Journal:
    Twin Research and Human Genetics / Volume 22 / Issue 4 / August 2019
    Published online by Cambridge University Press:
    25 July 2019, pp. 229-232
    • Article
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  • The epidemiology of heritable traits whose prevalence is determined by a balance between mutation and selection is often explored through deterministic models. Here, the properties are explored by simulation of a model population followed through a sequence of closely spaced time points. Mutation and birth and death occur randomly. The condition neurofibromatosis type 1 (NF1) is used as a point of reference. Critical parameters, such as mutation rates and selection forces, are not known precisely for NF1 so speculative values based on published data from Finland and other studies are proposed.

  • Language dominance and inhibition abilities in bilingual older adults*

  • MIRA GORAL, LUCA CAMPANELLI, AVRON SPIRO III
  • Journal:
    Bilingualism: Language and Cognition / Volume 18 / Issue 1 / January 2015
    Published online by Cambridge University Press:
    04 April 2013, pp. 79-89

  • This study aimed to examine the so-called bilingual advantage in older adults’ performance in three cognitive domains and to identify whether language use and bilingual type (dominant vs. balanced) predicted performance. The participants were 106 Spanish–English bilinguals ranging in age from 50 years to 84 years. Three cognitive domains were examined (each by a single test): inhibition (the Simon task), alternating attention (the Trail Making test), and working memory (Month Ordering). The data revealed that age was negatively correlated to performance in each domain. Bilingual type – balanced vs. dominant – predicted performance and interacted with age only on the inhibition measure (the Simon task). Balanced bilinguals showed age-related inhibition decline (i.e., greater Simon effect with increasing age); in contrast, dominant bilinguals showed little or no age-related change. The findings suggest that bilingualism may offer cognitive advantage in older age only for a subset of bilinguals.

  • Novel frameshift mutation in Troponin C (TNNC1) associated with hypertrophic cardiomyopathy and sudden death

  • Wendy K. Chung, Carrie Kitner, Barry J. Maron
  • Journal:
    Cardiology in the Young / Volume 21 / Issue 3 / June 2011
    Published online by Cambridge University Press:
    25 January 2011, pp. 345-348
  • Purpose

    Hypertrophic cardiomyopathy is the most common cause of sudden death in young people, including trained athletes, and is caused by mutations in genes encoding proteins of the cardiac sarcomere. Mutations in the Troponin C gene (TNNC1) are a rare genetic cause of hypertrophic cardiomyopathy. We describe a novel type of mutation (c.363dupG) in Troponin C, a rare form of hypertrophic cardiomyopathy.

    Methods

    A family in which a 19-year-old asymptomatic male died of sudden cardiac death due to hypertrophic cardiomyopathy was genetically studied by sequencing 17 genes associated with hypertrophic cardiomyopathy or its phenocopies.

    Results

    A c.363dupG mutation in Troponin C was identified, and tested across the family.

    Conclusions

    We report the first frameshift mutation (c.363dupG or p.Gln122AlafsX30) in Troponin C causing hypertrophic cardiomyopathy (and sudden cardiac death) in a 19-year-old male, and have demonstrated that the mutation segregates with hypertrophic cardiomyopathy within the family.

  • Familial Ménière's disease: clinical and genetic aspects

  • A W Morrison, M E S Bailey, G A J Morrison
  • Journal:
    The Journal of Laryngology & Otology / Volume 123 / Issue 1 / January 2009
    Published online by Cambridge University Press:
    11 July 2008, pp. 29-37
    Print publication:
    January 2009
  • Background and purpose:

    Ménière's disease is not uncommon, with an incidence in Caucasians of about one in 2000. The incidence peaks in the fifth decade. Cases are usually isolated or sporadic, but in perhaps five per cent other family members are affected. We report here the clinical and genetic characteristics of a comprehensive set of familial Ménière's disease cases from the UK.

    Methods:

    Forty-six affected families were studied. All cases were diagnosed using the American Academy of Otolaryngology–Head and Neck Surgery committee on hearing and equilibrium 1995, or more stringent, criteria.

    Outcomes and results:

    Autosomal dominant inheritance with reduced penetrance was the most likely mode of inheritance overall. Apparent genetic anticipation was observed, but may also be a result of ascertainment bias given the collection strategy. There was also a slight tendency for cases to result from maternal transmission within the families in this set. The family pedigrees are presented, and the authors have also set up a website at which all the pedigrees may be viewed in greater detail.