Skip to main content Accessibility help

We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.

Close cookie message
×
  1. Home
  2. Search

Refine search

Refine search

Access:
Content type:
Publication date:
Apply   From and To filters
Subject: Show more
Journals Show more
Publishers: Show more
Societies Show more
Series: Show more
Collections: Show more

Actions for selected content:

Select all | Deselect all
  • View selected items
  • Export citations
  • Download PDF (zip)
  • Save to Kindle
  • Save to Dropbox
  • Save to Google Drive

Save Search

You can save your searches here and later view and run them again in "My saved searches".

Please provide a title, maximum of 40 characters.
Cancel
×

3 results

  • Chapter 17 - Disorders of Intermediaries of Metabolism and Malignant Hyperthermia

  • 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 273-289

  • Summary

    Many inherited conditions result from disorders of intermediary metabolism. Many more are discovered annually using advanced gene sequencing and other tools. These diseases cause symptoms because of the accumulation of precursors, absence of the final product, excessive toxic intermediaries, or a combination of all three mechanisms. Many are fatal in childhood, but some are compatible with adult life and pregnancy. A better understanding of the enzymatic deficiencies and new technologies have made recombinant enzyme replacement therapy possible. Along with early diet manipulation, current management allows many patients to live relatively normal lives. Because fertility may not be affected, some of these conditions will be encountered by the anesthesiologist. This chapter describes diseases caused by certain enzyme deficiencies and the by-products that cause symptoms. Some are exacerbated by pregnancy and the stress of labor and delivery. The anesthesiologist plays an essential role in reducing physiologic stress and avoiding triggering agents and routines that cause severe metabolic derangements or cardiopulmonary decompensation. The final portion of the chapter describes the most recent advances in the prevention and treatment of malignant hyperthermia in pregnancy, discussing the impact on mother and baby.

  • PATIENT-REPORTED OUTCOMES IN RARE LYSOSOMAL STORAGE DISEASES: KEY INFORMANT INTERVIEWS AND A SYSTEMATIC REVIEW PROTOCOL

  • Part of
  • Patricia A. Miller, Sohail M. Mulla, Thomasin Adams-Webber, Yasmin Sivji, Gordon H. Guyatt, Bradley C. Johnston
  • Journal:
    International Journal of Technology Assessment in Health Care / Volume 32 / Issue 6 / 2016
    Published online by Cambridge University Press:
    28 December 2016, pp. 393-399

  • Objectives: To investigate the use, challenges and opportunities associated with using patient-reported outcomes (PROs) in studies with patients with rare lysosomal storage diseases (LSDs), we conducted interviews with researchers and health technology assessment (HTA) experts, and developed the methods for a systematic review of the literature. The purpose of the review is to identify the psychometrically sound generic and disease-specific PROs used in studies with patients with five LSDs of interest: Fabry, Gaucher (Type I), Niemann-Pick (Type B) and Pompe diseases, and mucopolysaccharidosis (Types I and II).

    Methods: Researchers and HTA experts who responded to an email invitation participated in a telephone interview. We used qualitative content analysis to analyze the anonymized transcripts. We conducted a comprehensive literature search for studies that used PROs to investigate burden of disease or to assess the impact of interventions across the five LSDs of interest.

    Results: Interviews with seven researchers and six HTA experts representing eight countries revealed five themes. These were: (i) the importance of using psychometrically sound PROs in studies with rare diseases, (ii) the paucity of disease-specific PROs, (iii) the importance of having PRO data for economic analyses, (iv) practical and psychometric limitations of existing PROs, and (v) suggestions for new PROs. The systematic review has been completed.

    Conclusions: The interviews highlight current challenges and opportunities experienced by researchers and HTA experts involved in work with rare LSDs. The ongoing systematic review will highlight the experience, opportunities, and limitations of PROs in LSDs and provide suggestions for future research.

  • Echocardiographic study of paediatric patients with mucopolysaccharidosis

  • Gabriela N. Leal, Ana C. de Paula, Cláudio Leone, Chong A. Kim
  • Journal:
    Cardiology in the Young / Volume 20 / Issue 3 / June 2010
    Published online by Cambridge University Press:
    26 April 2010, pp. 254-261
  • Principle

    Mucopolysaccharidosis is an inborn error of metabolism causing glucosaminoglycans tissue storage. Cardiovascular involvement is variable but contributes significantly towards the morbidity and mortality of the patients.

    Objective

    To characterise the echocardiographic abnormalities in children and adolescents with different types of mucopolysaccharidosis.

    Method

    Echocardiograms and medical records of 28 patients aged 2–14 years, seen from 2003 to 2005, were revised. At that time, the enzymatic replacement therapy was still not available in our institution.

    Results

    Echocardiographic alterations were detected in 26 patients (93%), whereas 16 (57%) had abnormal auscultation, and only 6 (21%) presented with cardiovascular complaint. Mitral valve thickening with dysfunction (regurgitation, stenosis, or double lesion) was diagnosed in 60.8%, left ventricular hypertrophy in 43% and aortic valve thickening with regurgitation in 35.8% of the patients. There was no systolic dysfunction and mild left diastolic dysfunction was shown in 21.5% of the patients. Pulmonary hypertension was present in 36% of the patients, causing the only two deaths recorded. There was a strong association between the accumulation of dermatan sulphate and the presence of mitral valve dysfunction (p = 0.0003), aortic valve dysfunction (p = 0.006), and pulmonary hypertension (p = 0.006). Among individuals with two or more examinations, 82% had a worsening evolution.

    Conclusions

    Echocardiographic alterations in children with Mucopolysaccharidosis are frequent and have a progressive character. Left valve lesions, ventricular hypertrophy, and pulmonary hypertension were the most common findings and there was an association between the accumulation of dermatan sulphate and cardiovascular involvement. Unlike in adults, pulmonary hypertension was the main cause of death, not left ventricle systolic dysfunction.