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Mitokondriyal nörogastrointestinal ensefalomiyopati sendromu nedeni ile yapılan hematopoietik kök hücre transplantasyonunda fizyoterapi ve rehabilitasyonun etkileri: olgu sunumu

Year 2015, Volume: 2 Issue: 1 - Volume: 2 Issue: 1, 33 - 38, 23.07.2016

Abstract

(MNGIE), nadir görülen otozomal resesif geçişli, pek çok sistemi etkileyen bir hastalıktır. Ciddi kas kuvvet kaybı, gastrointestinal dismotilite, lökoensefalopati, periferal nöropati ve oftalmopleji ile karakterizedir. Trombosit transfüzyonu, hemodiyaliz, peritoneal diyaliz ve hematopoietik kök hücre transplantasyonu kullanılan tedavi yöntemlerindendir. Çalışmamızın amacı, hematopoietik kök hücre transplantasyonu uygulanan 14 yaşındaki hastada fizyoterapi ve rehabilitasyon programının etkinliğini araştırmaktır. Hastanın başlangıç kas kuvveti, eklem hareket açıklığı, duyu, fonksiyonel performansı değerlendirmelerine göre bireysel bir fizyoterapi ve rehabilitasyon programı oluşturuldu. Çalışmamız sonucunda hastanın fonksiyonel performansının geliştiği, duyu, kas kuvveti, günlük yaşam aktiviteleri ve eklem hareket açıklığının ise korunduğu bulunmuştur

References

  • Garone C, Tadesse S, Hirano M. Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. Brain. 2011;134(Pt.11):3326-3332.
  • Hirano M, Silvestri G, Blake DM, et al. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical and genetic features of an autosomal recessive mitochondrial disorder. Neurology. 1994;44:721-727.
  • Lara MC, Weiss B, Illa I, et al. Infusion of platelets transiently reduces nucleoside overload in MNGIE. Neurology. 2006; 67:1461-1463.
  • la Marca G, Malvagia S, Casetta B, et al. Preand post-dialysis quantitative dosage of thymidine in urine and plasma of a MNGIE patient by using HPLC-ESIMS/MS. J Mass Spectrom. 2006;41:586-592.
  • Hirano M, Mart R, Casali C, et al. Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE. Neurology. 2006;67:1458-1460.
  • Persoon S, Kersten M, Weiden K, et al. Effects of exercise in patients treated with stem cell transplantation for a hematologic malignancy: a systematic review and meta-analysis. Cancer Treat Rev. 2013;39:682-690.
  • San Juan AF, Chamorro Vina C, Fernandez del Valle M, et al. Benefits of intrahospital exercise training after pediatric bone marrow transplantation. Int J Sports Med. 2008;29:439-446.
  • Chamorro Vina C, Ruiz JR, Santana Sosa E, et al. Exercise during hematopoietic stem cell transplant hospitalization in children. Med Sci Sports Exerc. 2010;42:1045-1053.
  • Rosenhagen A, Bernhörster M, Vogt L, et al. Implementation of structured physical activity in the pediatric stem cell transplantation. Klin Padiatr 2011;223:147-151.
  • Fess EE. Grip strength. In: Clinical assessment Recommandations. Casanova JS Ed. 2.nd ed. Chicago: American Society of Hand Therapists; 1992: 41-45.
  • Rikli RE, Jones CE. Development and validation of a functional fitness test for community residing older adults. Journal of Aging and Physical Activity. 1999;7:129-161.
  • Maeda A, Yuasa T, Nakamura K, et al. Physical performance tests after stroke:Reliability and validity. Am J Phys Med Rehabil. 2000;79:519-525.
  • Uniform Data System for Medical Rehabilitation. Guide for the Uniform Data Set for Medical Rehabilitation for Children (WeeFIM), version 4.0. Buffalo, NY: State University of New York at Buffalo, 1993.
  • Aybay C, Erkin G, Elhan AH, et al. ADL assessment of non-disabled Turkish children with the WeeFIM instrument. Am J Phys Med Rehabil 2007;86:176-182
  • Wiskemann J, Huber G. Physical exercise as adjuvant therapy for patients undergoing hematopoietic stem cell transplantation. Bone Marrow Transplant. 2008;41:321-329

Effects of physiotherapy and rehabilitation in hematopoietic stem cell transplantation performed due to mitochondrial neurogastrointestinal ensefalomiyopathy syndrome: a case report

Year 2015, Volume: 2 Issue: 1 - Volume: 2 Issue: 1, 33 - 38, 23.07.2016

Abstract

Effects of physiotherapy and rehabilitation in hematopoietic stem cell transplantation performed due to mitochondrial neurogastrointestinal ensefalomiyopathy syndrome: a case report Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) is a rare autosomal recessive disorder affecting a lot of system. The disease is characterized by muscle atrophy, gastrointestinal dysmotility, leukoencephalopathy, peripheral neuropathy, and ophthalmoplegia. Thrombocyte transfusions, hemodialysis, peritoneal dialysis, and hematopoietic stem cell transplantation are treatment methods which were used. The aim of our study was to investigate the efficacy of physiotherapy and rehabilitation program in a 14 years old patient who has been applied hematopoietic stem cell transplantation. Based on initial assessments of muscle strength, range of motion, sensation, functional performance, an individual physiotherapy and rehabilitation program was designed. As a the result of our study it was found that exercise program improved the functional performance of the child; prevented sense, muscle strength, daily life activities, and the range of motion

References

  • Garone C, Tadesse S, Hirano M. Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. Brain. 2011;134(Pt.11):3326-3332.
  • Hirano M, Silvestri G, Blake DM, et al. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical and genetic features of an autosomal recessive mitochondrial disorder. Neurology. 1994;44:721-727.
  • Lara MC, Weiss B, Illa I, et al. Infusion of platelets transiently reduces nucleoside overload in MNGIE. Neurology. 2006; 67:1461-1463.
  • la Marca G, Malvagia S, Casetta B, et al. Preand post-dialysis quantitative dosage of thymidine in urine and plasma of a MNGIE patient by using HPLC-ESIMS/MS. J Mass Spectrom. 2006;41:586-592.
  • Hirano M, Mart R, Casali C, et al. Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE. Neurology. 2006;67:1458-1460.
  • Persoon S, Kersten M, Weiden K, et al. Effects of exercise in patients treated with stem cell transplantation for a hematologic malignancy: a systematic review and meta-analysis. Cancer Treat Rev. 2013;39:682-690.
  • San Juan AF, Chamorro Vina C, Fernandez del Valle M, et al. Benefits of intrahospital exercise training after pediatric bone marrow transplantation. Int J Sports Med. 2008;29:439-446.
  • Chamorro Vina C, Ruiz JR, Santana Sosa E, et al. Exercise during hematopoietic stem cell transplant hospitalization in children. Med Sci Sports Exerc. 2010;42:1045-1053.
  • Rosenhagen A, Bernhörster M, Vogt L, et al. Implementation of structured physical activity in the pediatric stem cell transplantation. Klin Padiatr 2011;223:147-151.
  • Fess EE. Grip strength. In: Clinical assessment Recommandations. Casanova JS Ed. 2.nd ed. Chicago: American Society of Hand Therapists; 1992: 41-45.
  • Rikli RE, Jones CE. Development and validation of a functional fitness test for community residing older adults. Journal of Aging and Physical Activity. 1999;7:129-161.
  • Maeda A, Yuasa T, Nakamura K, et al. Physical performance tests after stroke:Reliability and validity. Am J Phys Med Rehabil. 2000;79:519-525.
  • Uniform Data System for Medical Rehabilitation. Guide for the Uniform Data Set for Medical Rehabilitation for Children (WeeFIM), version 4.0. Buffalo, NY: State University of New York at Buffalo, 1993.
  • Aybay C, Erkin G, Elhan AH, et al. ADL assessment of non-disabled Turkish children with the WeeFIM instrument. Am J Phys Med Rehabil 2007;86:176-182
  • Wiskemann J, Huber G. Physical exercise as adjuvant therapy for patients undergoing hematopoietic stem cell transplantation. Bone Marrow Transplant. 2008;41:321-329
There are 15 citations in total.

Details

Other ID JA64ED66KJ
Journal Section Articles
Authors

Vesile Yıldız Kabak This is me

Tülin Düger This is me

Duygu Uçkan Çetinkaya This is me

Publication Date July 23, 2016
Submission Date July 23, 2016
Published in Issue Year 2015 Volume: 2 Issue: 1 - Volume: 2 Issue: 1

Cite

Vancouver Yıldız Kabak V, Düger T, Uçkan Çetinkaya D. Mitokondriyal nörogastrointestinal ensefalomiyopati sendromu nedeni ile yapılan hematopoietik kök hücre transplantasyonunda fizyoterapi ve rehabilitasyonun etkileri: olgu sunumu. JETR. 2016;2(1):33-8.