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
×

13 results

  • Clinical, cellular, and molecular characterisation of cardiac rhabdomyoma in tuberous sclerosis

  • Part of
  • Hamood N. Al Kindi, Ayman M. Ibrahim, Mohamed Roshdy, Besra S. Abdelghany, Dina Yehia, Ahmed Nageeb Masoud, Walid Simry, Yasmine Aguib, Magdi H. Yacoub
  • Journal:
    Cardiology in the Young / Volume 31 / Issue 8 / August 2021
    Published online by Cambridge University Press:
    19 February 2021, pp. 1297-1305
  • Background:

    Rhabdomyoma is the most common cardiac tumour in children. It is usually associated with tuberous sclerosis complex caused by mutations in TSC-1 or TSC-2 genes. This tumour typically regresses by unknown mechanisms; however, it may cause inflow or outflow obstruction that necessitates urgent surgery. Here we investigate the clinical features and the genetic analysis of patients with tuberous sclerosis complex presenting with large rhabdomyoma tumours. We also investigate the potential role of autophagy and apoptosis in the pathogenesis of this tumour.

    Methods:

    All the patients with cardiac rhabdomyoma referred to Aswan Heart Centre from 2010 to 2018 were included in this study. Sanger sequencing was performed for coding exons and the flanking intronic regions of TSC1 and TSC2 genes. Histopathological evaluation, immunohistochemistry, and western blotting were performed with P62, LC3b, caspase3, and caspase7, to evaluate autophagic and apoptotic signaling.

    Results:

    Five patients were included and had the clinical features of tuberous sclerosis complex. Three patients, who were having obstructive tumours, were found to have pathogenic mutations in TSC-2. The expression of two autophagic markers, P62 and LC3b, and two apoptotic markers, caspase3 and caspase7, were increased in the tumour cells compared to normal surrounding myocardial tissue.

    Conclusion:

    All the patients with rhabdomyoma were diagnosed to have tuberous sclerosis complex. The patients who had pathogenic mutations in the TSC-2 gene had a severe disease form necessitating urgent intervention. We also demonstrate the potential role of autophagy and apoptosis as a possible mechanism for tumourigenesis and regression. Future studies will help in designing personalised treatment for cardiac rhabdomyoma.

Lung Transplantation
  • Edited by Nicholas R. Banner, Julia M. Polak, Magdi H. Yacoub
  • Published online:
    06 January 2010
    Print publication:
    15 May 2003
  • This book provides a detailed account of the principles and practice of contemporary lung transplantation. An accomplished, international team of contributing authors have combined their expertise to provide scientific developments and clinical knowledge based on their extensive experience. The book covers pulmonary vascular and parenchymal lung disease, which necessitate transplantation, together with all aspects of the multidisciplinary management of lung transplant patients. It concludes by looking at future developments in the treatment of advanced respiratory failure. This multidisciplinary approach makes the publication suitable for several subspecialities in addition to pulmonary medicine and lung transplantation, including haematology, radiology and clinical psychology. It will serve as a valuable source of reference and practical information for medical specialists in transplantation and all those working in thoracic organ transplant units.

  • Preface

  • Edited by Nicholas R. Banner, Julia M. Polak, Imperial College of Science, Technology and Medicine, London, Magdi H. Yacoub, University of London
  • Book:
    Lung Transplantation
    Published online:
    06 January 2010
    Print publication:
    15 May 2003, pp xv-xvi

  • Summary

    Organ transplantation has been one of the major medical achievements of the twentieth century. Transplants have saved the lives of countless patients with failure of one, or more, of their vital organs and have returned most to a happy and productive existence. The lung proved to be one of the most difficult organs to transplant and clinically successful lung transplantation was first achieved two decades after the first renal allografts were performed. The results of lung transplantation have steadily improved and the procedure is now accepted as a standard therapy for patients with advanced parenchymal or vascular pulmonary disease. This success has produced a growing population of lung transplant recipients but has also highlighted the problems and limitations of lung transplantation that now represent challenges for the twenty-first century.

    Currently, the potential long-term benefits of lung transplantation are reduced by the frequent occurrence of bronchiolitis obliterans, which leads to progressive dysfunction of the pulmonary allograft and eventually to respiratory failure. Our understanding of the pathogenesis of this condition remains limited but there is some hope that newer approaches to pharmacological immunosuppression, including the use of drugs with antiproliferative properties, together with more effective prophylaxis against infection may reduce the impact of this condition. The burden of long-term pharmacological immunosuppression (infection and malignancy), as well as side effects of individual immunosuppressive drugs, are other important problems faced by transplant recipients. Progress has been made in this area through the more effective use of drug combinations to minimize the side effects of individual agents, the introduction of agents with better side effect profiles, and prophylaxis against some specific complications, such as infection with Pneumocystis or cytomegalovirus and against corticosteroid-related osteoporosis.

  • Localization of the fast skeletal muscle troponin I gene (TNNI2) to 11p15.5: genes for troponin I and T are organized in pairs

  • P. J. R. BARTON, P. J. TOWNSEND, N. J. BRAND, M. H. YACOUB
  • Journal:
    Annals of Human Genetics / Volume 61 / Issue 6 / November 1997
    Published online by Cambridge University Press:
    01 November 1997, pp. 519-523
    Print publication:
    November 1997

  • We have localized the gene encoding the fast skeletal muscle isoform of troponin I (TNNI2) to 11p15.5 by PCR-based analysis of somatic cell hybrid panels: based on the Genebridge4 radiation hybrid panel, TNNI2 is coincident with the marker D11S922. The gene encoding the fast skeletal muscle troponin T gene (TNNT3) has been previously assigned to 11p15.5 suggesting that TNNI2 and TNNT3 may be closely linked. The overall location of genes encoding troponin I and T isoforms now reveals that they are organized at three loci each containing a troponin I/troponin T gene pair. This organization contrasts with all other sarcomeric protein genes and has implications for the evolution of these two gene families, for their regulation and for the analysis of mutations suspected to result in cardiomyopathy.