Results 61 to 70 of about 7,965 (282)

Spinal muscular atrophy 5Q – Treatment with nusinersen [PDF]

Revista da Associação Médica Brasileira, 2018
The Guidelines Project, an initiative of the Brazilian Medical Association, aims to combine information from the medical field in order to standardize producers to assist the reasoning and decision-making of doctors. The information provided through this project must be assessed and criticized by the physician responsible for the conduct that will be ...
Antonio Silvinato, Wanderley M Bernardo
openaire   +5 more sources

Newborn screening for spinal muscular atrophy : the views of affected families and adults [PDF]

, 2017
Spinal muscular atrophy (SMA) is one of the leading genetic causes of infant death worldwide. However, due to a lack of treatments, SMA has historically fallen short of Wilson-Jungner criteria.
Boardman, Felicity K., Griffiths, Frances, Young, Philip J.   +2 more
core   +1 more source

Newborn genetic screening for spinal muscular atrophy in the UK : the views of the general population [PDF]

, 2018
Background: Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder and a leading genetic cause of infant death worldwide. However, there is no routinescreening programme for SMA in the UK.
Ar Rochmah, Bailey, Bertini, Boardman, Boardman, Boardman, Boardman, Bombard, Botkin, Chiriboga, Dankert-Roelse, Friedman, Gavrilov, Grob, Himes, Kato, Kesari, Lawton, Lefebvre, Lefebvre, Lefebvre, Lin, Lunn, McClaren, Munsat, Munsat, O'Neill, Ogino, Ogino, Oprea, Parks, Prior, Prior, Prior, Prior, Rose, Rothwell, Schmidt, Swoboda, Timmermans, Tluczek, Wadman, Wang, Wirth, Wood, Xu, Young   +46 more
core   +1 more source

Assessment of motor function and nutritional status in children with spinal muscular atrophy treated with nusinersen after loading period in Western China: a retrospective study

BMC Neurology, 2023
Background Spinal muscular atrophy (SMA) is a progressive degenerative neuromuscular disease. Nusinersen, with its quick onset of action, can benefit patients early in the treatment course.
Hua Yang, Qiuji Tao, Dan Li, Jie Yang, Qianyun Cai, Jing Gan, Shaoping Huang, Rong Luo   +7 more
doaj   +1 more source

Evaluation of real-life outcome data of patients with spinal muscular atrophy treated with nusinersen in Switzerland. [PDF]

, 2022
Spinal muscular atrophy (SMA) is an autosomal recessive disorder causing progressive proximal muscular, respiratory, and bulbar weakness. We present outcome data on motor function, ventilation, nutrition, and language development of SMA patients treated ...
Baumann, D., Enzmann, C., Hasselmann, O., Jacquier, D., Jung, H.H., Klein, A., Kruijshaar, M.E., Kuehni, C.E., Neuwirth, C., Rüsch, C.T., Stettner, G.M., Tscherter, A.   +11 more
core   +1 more source

Experience with nusinersen as a pathogenetic therapy in adult patients with spinal muscular atrophy 5q in the Republic of Bashkortostan

Нервно-мышечные болезни, 2023
Background. Spinal muscular atrophy (SMA) affects 1 in 11,000 people. Until 2016, this was considered an incurable disease, but after the approval of nusinersen, the situation has changed.
S. V. Umutbaev, L. Sh. Murzabaeva, M. A. Kutlubaev, A. V. Shishigin, T. N. Sharipov, E. V. Sayfullina, R. V. Мagzhanov   +6 more
doaj   +1 more source

Clinical and economic assessment of nusinersen: the Bulgarian perspective

Expert Opinion on Orphan Drugs, 2020
Spinal muscular atrophy (SMA) is a very serious debilitating rare condition mainly affecting newborns and infants. The aim of current chapter is to present the standard of care and treatment available in Bulgaria from both clinical and economic point of view.
Maria Stefanova Kamusheva, Maria Jordanova Dimitrova   +1 more
openaire   +2 more sources

Cone-beam computed tomography guided nusinersen administrations in adult spinal muscular atrophy patients with challenging access [PDF]

, 2022
BACKGROUND: The challenging anatomic predispositions in adult patients with spinal muscular atrophy (SMA) preclude the conventional lumbar punctures. Consequently, an introduction of alternative method for intrathecal delivery of nusinersen is required ...
Koritnik, Blaž, Kostadinova, Viktorija, Leonardis, Lea, Salapura, Vladka, Snoj, Žiga   +4 more
core   +2 more sources

Implications of circulating neurofilamentsfor spinal muscular atrophytreatment early in life: A case series

Molecular Therapy: Methods & Clinical Development, 2021
This longitudinal cohort study aimed to determine whether circulating neurofilaments (NFs) can monitor response to molecular therapies in newborns with spinal muscular atrophy (SMA; NCT02831296).
Christiano R.R. Alves, Marco Petrillo, Rebecca Spellman, Reid Garner, Ren Zhang, Michael Kiefer, Sarah Simeone, Jihee Sohn, Eric J. Eichelberger, Emma Rodrigues, Elizabeth A. Arruda, Elise L. Townsend, Wildon Farwell, Kathryn J. Swoboda   +13 more
doaj   +1 more source

Nusinersen in spinal muscular atrophy: Respiratory outcomes at tertiary care centers

Journal of Nature and Science of Medicine, 2020
Objectives: The objective of the study wasto describe the effect of nusinersen therapy and its 1st-year associated outcomes, weaning of ventilator support, and length of stay in pediatric intensive care among ventilator-dependent spinal muscular atrophy (
Fahad Alsohime, Mohamad-Hani Temsah, Muneera Al-Jelaify, Hind Ali Bafaqih, Kamal El Masri, Ahmed Abusibah, Ayman Al-Eyadhy, Gamal Hasan, Ali Alhaboob, Majed Alabdulhafid, Mohammed Abdulrahman Almazyad, Abdulaziz Alghamdi, Fahad A Bashiri   +12 more
doaj   +1 more source