Results 71 to 80 of about 608,413 (188)

PREGNANCY AND CHILDBIRTH IN A PATIENT WITH SPINAL MUSCULAR ATROPFY (CLINICAL CASE)

Мать и дитя в Кузбассе, 2020
Spinal muscle atrophy (SMA) is a group of diseases inherited by an autosomal recessive type and characterized by degeneration of cells of the anterior horns of the spinal cord.
Ирина Анатольевна Ушакова, Нонна Марковна Шибельгут, Игорь Анатольевич Гнусарев, Екатерина Владимировна Литовченко, Вадим Гельевич Мозес, Елена Владимировна Рудаева, Светлана Ивановна Елгина   +6 more
doaj  

Severe Spinal Muscular Atrophy Variant Associated With Congenital Bone Fractures

, 2016
Infantile autosomal recessive spinal muscular atrophy (type I) represents a lethal disorder leading to progressive symmetric muscular atrophy of limb and trunk muscles. Ninety-six percent cases of spinal muscular atrophy type I are caused by deletions or
Bührer, Christoph, Obladen, Michael, Harder, Anja, Felderhoff-Mueser, Ursula, Grohmann, Katja, Zerres, Klaus, Stadelmann, Christine   +6 more
core   +1 more source

Nusinersen Treatment for Spinal Muscular Atrophy: Retrospective Multicenter Study of Pediatric and Adult Patients in Kuwait

Neurology International
Spinal muscular atrophy is a neuromuscular genetic condition associated with progressive muscle weakness and atrophy. Nusinersen is an antisense oligonucleotide therapy approved for the treatment of 5q spinal muscular atrophy in pediatric and adult ...
Asma AlTawari, Mohammad Zakaria, Walaa A. Kamel, Nayera Shaalan, Gamal Ahmed Ismail Elghazawi, Mohamed Esmat Anwar Ali, Dalia Salota, Amr Attia, Ehab Elsayed Ali Elanany, Osama Shalaby, Fatema Alqallaf, Vesna Mitic, Laila Bastaki   +12 more
doaj   +1 more source

Spinal Muscular Atrophy Type III

, 2011
Spinal muscular atrophy is a relatively stable chronic disease. Patients may gradually experience declines in muscle strength and motor function over time.
Jacqueline Montes, Megan Montgomery, Patricia A. Ryan, Sally Dunaway, Darryl C. De Vivo, Douglas M. Sproule   +5 more
core   +1 more source

Considerations for Treatment in Clinical Care of Spinal Muscular Atrophy Patients

Children
Spinal Muscular Atrophy is a neurodegenerative disease which can lead to muscle weakness, paralysis, and in some cases death. There are many factors that contribute to the severity of symptoms and those factors can be used to determine the best course of
Stephanie Voight, Kapil Arya
doaj   +1 more source

Spinal Muscular Atrophy Lab

, 2022
Lo Spinal Muscular Atrophy Lab è il primo “laboratorio” di management che ha l’obiettivo di supportare i sistemi sanitari (regionali e aziendali), i professionisti e i pazienti nel migliorare la qualità delle cure per le persone affette da ...
Tozzi, Valeria D., Ferrara, Lucia, Dalponte, Federica   +2 more
core  

Anesthetic management of a patient with spinal muscular atrophy type II for scoliosis surgery: a case report

BMC Anesthesiology
Background Spinal Muscular Atrophy (SMA) is a rare autosomal recessive genetic disorder characterized by degeneration of motor neurons in the spinal cord, resulting in progressive limb muscle weakness, atrophy, and severe scoliosis.
Zhuangyuan Chen, Xiaowei Chen, Xiyun Liang, Qiang Niu, Yauwai Chan, Xuebing Xu   +5 more
doaj   +1 more source

The effects of fluphenazine on the neuromuscular phenotype in a mouse model of spinal muscular atrophy [PDF]

Spinal muscular atrophy (SMA) is a degenerative neuromuscular disorder caused by a mutation in the survival motor neuron 1 gene (SMN1), which renders the gene dysfunctional. SMN protein is vital for the survival of motor neurons.
Haynes, Katie Louise
core  

Cost-Effectiveness of Technologies for the Treatment of Spinal Muscular Atrophy: A Systematic Review of Economic Studies

Objectives This study aims to systematically collect data on cost-effectiveness analyses that assess technologies to treat type I and II spinal muscular atrophy and evaluate their recommendations.
Carvalho, Lélia, Motta-Santos, André, Reis, Carla, Freitas, Daniela, Noronha, Kenya, Andrade, Mônica   +5 more
core   +1 more source

Reduced mesencephalic astrocyte–derived neurotrophic factor expression by mutant androgen receptor contributes to neurodegeneration in a model of spinal and bulbar muscular atrophy pathology

Neural Regeneration Research
Spinal and bulbar muscular atrophy is a neurodegenerative disease caused by extended CAG trinucleotide repeats in the androgen receptor gene, which encodes a ligand-dependent transcription factor.
Yiyang Qin, Wenzhen Zhu, Tingting Guo, Yiran Zhang, Tingting Xing, Peng Yin, Shihua Li, Xiao-Jiang Li, Su Yang   +8 more
doaj   +1 more source