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  • 1.
    Hedberg-Oldfors, Carola
    et al.
    Univ Gothenburg, Sweden.
    Abramsson, Alexandra
    Univ Gothenburg, Sweden.
    Osborn, Daniel P. S.
    St Georges Univ London, England.
    Danielsson, Olof
    Linköping University, Department of Clinical and Experimental Medicine, Division of Neuro and Inflammation Science. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Local Health Care Services in Central Östergötland, Department of Neurology.
    Fazlinezhad, Afsoon
    Imam Reza Int Univ, Iran.
    Nilipour, Yalda
    Shahid Beheshti Univ Med Sci, Iran.
    Hübbert, Laila
    Linköping University, Department of Medical and Health Sciences, Division of Cardiovascular Medicine. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Heart and Medicine Center, Department of Cardiology in Norrköping.
    Nennesmo, Inger
    Karolinska Univ Hosp, Sweden.
    Visuttijai, Kittichate
    Univ Gothenburg, Sweden.
    Bharj, Jaipreet
    St Georges Univ London, England.
    Petropoulou, Evmorfia
    St Georges Univ London, England.
    Shoreim, Azza
    St Georges Univ London, England.
    Vona, Barbara
    Julius Maximilians Univ Wurzburg, Germany.
    Ahangari, Najmeh
    Mashhad Univ Med Sci, Iran.
    Lopez, Marcela Davila
    Univ Gothenburg, Sweden.
    Doosti, Mohammad
    Next Generat Genet Polyclin, Iran.
    Banote, Rakesh Kumar
    Univ Gothenburg, Sweden.
    Maroofian, Reza
    St Georges Univ London, England.
    Edling, Malin
    Univ Gothenburg, Sweden.
    Taherpour, Mehdi
    Imam Reza Int Univ, Iran.
    Zetterberg, Henrik
    Univ Gothenburg, Sweden; Sahlgrens Univ Hosp, Sweden; UCL Inst Neurol, England.
    Karimiani, Ehsan Ghayoor
    Imam Reza Int Univ, Iran; Islamic Azad Univ, Iran.
    Oldfors, Anders
    Univ Gothenburg, Sweden.
    Jamshidi, Yalda
    St Georges Univ London, England.
    Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL242019In: Human Molecular Genetics, ISSN 0964-6906, E-ISSN 1460-2083, Vol. 28, no 11, p. 1919-1929Article in journal (Refereed)
    Abstract [en]

    Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disorder, yet the genetic cause of up to 50% of cases remains unknown. Here, we show that mutations in KLHL24 cause HCM in humans. Using genome-wide linkage analysis and exome sequencing, we identified homozygous mutations in KLHL24 in two consanguineous families with HCM. Of the 11 young affected adults identified, 3 died suddenly and 1 had a cardiac transplant due to heart failure. KLHL24 is a member of the Kelch-like protein family, which acts as substrate-specific adaptors to Cullin E3 ubiquitin ligases. Endomyocardial and skeletal muscle biopsies from affected individuals of both families demonstrated characteristic alterations, including accumulation of desmin intermediate filaments. Knock-down of the zebrafish homologue klhl24a results in heart defects similar to that described for other HCM-linked genes providing additional support for KLHL24 as a HCM-associated gene. Our findings reveal a crucial role for KLHL24 in cardiac development and function.

  • 2.
    Luttik, Maria
    et al.
    Linköping University, Faculty of Medicine and Health Sciences. Linköping University, Department of Medical and Health Sciences, Division of Nursing Science. Hanze University of Applied Sciences, Research Group Nursing Diagnostics, Groningen, .
    Goossens, E
    KU Leuven, University of Leuven.
    Ågren, Susanna
    Linköping University, Department of Medical and Health Sciences, Division of Nursing Science. Region Östergötland, Heart and Medicine Center, Department of Thoracic and Vascular Surgery. Linköping University, Faculty of Medicine and Health Sciences.
    Jaarsma, Tiny
    Linköping University, Department of Social and Welfare Studies, Division of Nursing Science. Linköping University, Faculty of Medicine and Health Sciences.
    Mårtensson, J
    Jönköping University, School of Health and Welfare, Department of Nursing, Jönköping, Sweden.
    Thompson, D R
    Australian Catholic University, Centre for the Heart and Mind, Melbourne, Australia.
    Moons, P
    7KU Leuven, University of Leuven, Department of Public Health and Primary Care, Leuven, Belgium Institute of Health and Care Sciences, University of Gothenburg, Sweden..
    Strömberg, Anna
    Linköping University, Department of Medical and Health Sciences, Division of Nursing Science. Linköping University, Faculty of Health Sciences. Region Östergötland, Heart and Medicine Center, Department of Cardiology in Norrköping. Undertaking Nursing Interventions Throughout Europe (UNITE) research group..
    Attitudes of nurses towards family involvement in the care for patients with cardiovascular diseases.2017In: European Journal of Cardiovascular Nursing, ISSN 1474-5151, E-ISSN 1873-1953, Vol. 16, no 4, p. 299-308Article in journal (Refereed)
    Abstract [en]

    INTRODUCTION: There is increasing evidence supporting the relationship between family support and patient outcomes. Therefore, involving families in the care of cardiovascular patients is expected to be beneficial for patients. The quality of the encounter with families highly depends on the attitudes of nurses towards the importance of families in patient care.

    AIM: The aim of this study was to describe the attitudes of nurses towards family involvement in patient care and to investigate the individual contributions of demographic, professional and regional background characteristics.

    METHOD: A survey was distributed among cardiovascular nurses attending an international conference in Norway and a national conference in Belgium. Nurses were asked to complete a questionnaire, including the Families' Importance in Nursing Care - Nurses' Attitudes scale. The study population consisted of respondents from Belgium (n = 348) and from Scandinavian countries (Norway, Sweden and Denmark; n = 77).

    RESULTS: In general, nurses viewed the family as important in care. However, attitudes towards actively inviting families to take part in patient care were less positive. Higher educational level and a main practice role in research, education or management were significantly associated with more positive attitudes. Furthermore, the attitudes of respondents living in Scandinavia were more positive as compared to the attitudes of respondents living in Belgium.

    CONCLUSION: Education on the importance of families and active family involvement in patient care seems to be necessary in basic, undergraduate education, but also in clinical practice. More research is necessary in order to explore the cultural and regional differences in the attitudes of nurses towards the involvement of families in patient care.

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