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11 results

  • Chapter 50 - Microcephaly
    • from Section 3 - Symptomatic epilepsy
  • Edited by Simon D. Shorvon, Frederick Andermann, Renzo Guerrini
  • Book: The Causes of Epilepsy
  • Published online: 05 March 2012
  • Print publication: 14 April 2011, pp 330-340
  • View abstract

    Summary

    Rett syndrome (RTT, MIM 312750) is an X-linked neurodevelopmental disorder which occurs in 1. 09/10,000 females. RTT individuals with R168X, R294X, and C-terminal methyl-CpG-binding protein 2 (MECP2) mutations have been observed to be less likely to have seizure onset before 4 years of age. Partial and generalized seizures are reported to occur in RTT. Video-electroencephalogram (EEG) studies have been performed in RTT individuals with a history of seizures. Early onset of seizures is reported to be linked to the combined MECP2 mutations and brain-derived neurotrophic factor (BDNF) polymorphisms. In addition to efficacy in treatment of seizures and potential side effects, antiepileptic drugs (AEDs) may improve non-epileptic behaviors, such as anxiety and breathing dysrhythmia, commonly observed in RTT. A changing epilepsy phenotype has been described in individuals with X-linked cyclin-dependent kinase-like 5 (CDKL5) mutations. The pathogenesis of epilepsy in CDKL5 mutations may be similar to that of MECP2 mutations.
  • Optimising echocardiographic screening for rheumatic heart disease in New Zealand: not all valve disease is rheumatic
  • Rachel H. Webb, Nigel J. Wilson, Diana R. Lennon, Elizabeth M. Wilson, Ross W. Nicholson, Tom L. Gentles, Clare P. O'Donnell, John W. Stirling, Irene Zeng, Adrian A. Trenholme
  • Journal: Cardiology in the Young / Volume 21 / Issue 4 / 12 July 2011
  • Published online by Cambridge University Press: 31 March 2011, pp. 436-443
  • Print publication: 12 July 2011
  • View abstract
    Aims

    Echocardiography detects a greater prevalence of rheumatic heart disease than heart auscultation. Echocardiographic screening for rheumatic heart disease combined with secondary prophylaxis may potentially prevent severe rheumatic heart disease in high-risk populations. We aimed to determine the prevalence of rheumatic heart disease in children from an urban New Zealand population at high risk for acute rheumatic fever.

    Methods and results

    To optimise accurate diagnosis of rheumatic heart disease, we utilised a two-step model. Portable echocardiography was conducted on 1142 predominantly Māori and Pacific children aged 10–13 years. Children with an abnormal screening echocardiogram underwent clinical assessment by a paediatric cardiologist together with hospital-based echocardiography. Rheumatic heart disease was then classified as definite, probable, or possible. Portable echocardiography identified changes suggestive of rheumatic heart disease in 95 (8.3%) of 1142 children, which reduced to 59 (5.2%) after cardiology assessment. The prevalence of definite and probable rheumatic heart disease was 26.0 of 1000, with 95% confidence intervals ranging from 12.6 to 39.4. Portable echocardiography overdiagnosed rheumatic heart disease with physiological valve regurgitation diagnosed in 28 children. A total of 30 children (2.6%) had non-rheumatic cardiac abnormalities, 11 of whom had minor congenital mitral valve anomalies.

    Conclusions

    We found high rates of undetected rheumatic heart disease in this high-risk population. Rheumatic heart disease screening has resource implications with cardiology evaluation required for accurate diagnosis. Echocardiographic screening for rheumatic heart disease may overdiagnose rheumatic heart disease unless congenital mitral valve anomalies and physiological regurgitation are excluded.

  • 10 - Community benefits from long-term research programs: a case study from Kibale National Park, Uganda
  • Edited by Richard Wrangham, Harvard University, Massachusetts, Elizabeth Ross
  • Book: Science and Conservation in African Forests
  • Published online: 06 July 2010
  • Print publication: 14 August 2008, pp 99-114
  • View extract

    Summary

    The authors of this chapter have known each other for 20 years. For the past 10 years we have been partners in The Kasiisi Project, a project that invests in primary schools in the forest-edge communities around Kibale National Park. We represent the two sides of the Ugandan “aid coin:” expatriate donor (The Kasiisi Project) and Ugandan recipient (AFROKAPS). We share a commitment to common goals but, because of our different cultural backgrounds, we sometimes approach them in different ways. We recognize that our priorities may differ and we do not always agree with each other. Local pressures and community expectations on either side of the Atlantic shackle us both and misunderstandings occasionally arise, but 20 years have given us a foundation of familiarity and friendship that has enabled us to work effectively as a team. Together, we have built a successful project that now works with five schools and 3500 children.

    This chapter looks at the ways in which long-term research programs in Kibale National Park (KNP) have brought benefits to local, national and international communities and how this, in turn, can have positive implications for conservation. Our main focus is on small community projects, started by mainly expatriate researchers and their families. We suggest that the biggest contribution of long-term research programs to these projects is the fostering of alliances between expatriates and nationals. We believe that our experience is probably typical of projects that involve western researchers interacting with tropical forest communities (Collins and Goodall, Chapter 14).