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3 results

  • Increased interstage morbidity and mortality following stage 1 palliation in patients with genetic abnormalities

  • Alyson R. Pierick, Trudy A. Pierick, Thomas D. Scholz, M. Bridget Zimmerman, Benjamin E. Reinking
  • Journal:
    Cardiology in the Young / Volume 32 / Issue 12 / December 2022
    Published online by Cambridge University Press:
    09 February 2022, pp. 1999-2004
    • Article
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  • Background:

    Hypoplastic left heart syndrome and single ventricle variants with aortic hypoplasia are commonly classified as severe forms of CHD. We hypothesised patients with these severe defects and reported genetic abnormalities have increased morbidity and mortality during the interstage period.

    Methods and Results:

    This was a retrospective review of the National Pediatric Cardiology Quality Improvement Collaborative Phase I registry. Three patient groups were identified: major syndromes, other genetic abnormalities, and no reported genetic abnormality. Tukey post hoc test was applied for pairwise group comparisons of length of stay, death, and combined outcome of death, not a candidate for stage 2 palliation, and heart transplant. Participating centres received a survey to establish genetic testing and reporting practices. Of the 2182 patients, 110 (5%) had major genetic syndromes, 126 (6%) had other genetic abnormalities, and 1946 (89%) had no genetic abnormality. Those with major genetic syndromes weighed less at birth and stage 1 palliation. Patients with no reported genetic abnormalities reached full oral feeds sooner and discharged earlier. The combined outcome of death, not a candidate for stage 2 palliation, and heart transplant was more common in those with major syndromes. Survey response was low (n = 23, 38%) with only 14 (61%) routinely performing and reporting genetic testing.

    Conclusions:

    Patients with genetic abnormalities experienced greater morbidity and mortality during the interstage period than those with no reported genetic abnormalities. Genetic testing and reporting practices vary significantly between participating centres.

  • Chapter 12 - Idiopathic generalized epilepsies

  • from Section 2 - Idiopathic 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 91-103

  • Summary

    There is often disagreement about what constitutes "epileptogenesis" and what is meant by "symptomatic epilepsy". In considering various mechanistic hypotheses, investigators have often divided potential participants in epileptogenesis into two categories: changes that are a direct result of the insult and serve to initiate the epileptogenic process, and processes that give rise to an altered brain condition that is capable of generating/supporting aberrant (hyperexcitable, hypersynchronous) neuronal discharge. These two sets of mechanisms may overlap (or turn out to be functionally inseparable). However, given the assumed temporal distinction (immediate vs. delayed) between these two categories of processes, it makes some sense to discuss them separately. The need to identify mechanisms of epileptogenesis in symptomatic epilepsies arises from a conviction that a better understanding of these processes will lead to effective antiepileptogenic therapies.

  • 3 - Rapid-cycling bipolar disorder

    • By Omar Elhaj, Case Western Reserve University, University Hospitals of Cleveland, Cleveland, OH, USA, Joseph R. Calabrese, Case Western Reserve School of Medicine and University Hospitals of Cleveland, Cleveland, OH, USA
  • Edited by Andreas Marneros, Martin Luther-Universität Halle-Wittenburg, Germany, Frederick Goodwin, George Washington University, Washington DC
  • Book:
    Bipolar Disorders
    Published online:
    10 August 2009
    Print publication:
    06 October 2005, pp 61-87

  • Summary

    The frequent recurrence of treatment-refractory depression is emerging as the greatest unmet need in the clinical management of patients with rapid-cycling bipolar disorder, and particularly those comorbid presentations with alcohol and drug abuse. The age-corrected risk of major affective disorder was 23.5% in 179 relatives of rapid cyclers and 31% in 189 relatives of matched non-rapid cyclers, suggesting that rapid cycling is not genetic and does not aggregate within families. Findings from neuroimaging studies continue to enrich our understanding of the pathophysiology of mood disorders generally and rapid-cycling bipolar disorder particularly. Researchers found that the clinical presentation of bipolar disorder I (BP-I) was similar in children and adolescents. Despite being the oldest among the pharmacological armamentarium in the treatment of bipolar disorder, lithium continues to draw attention to its utility as an effective agent in the treatment of different aspects and phases of this disorder.