This report describes a 33-year-old primigravid woman with spinal muscular atrophy Type III (Kugelberg-Welander syndrome). Elective caesarean section was performed at 38 weeks gestation under spinal anaesthesia. The implications of spinal muscular atrophy for anaesthesia for caesarean section are described.
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Hirayama's Disease: About a Clinical Observation.
Cureus
December 2024
Neurology, Hassan II University Hospital, Fez, MAR.
Hirayama disease, also known as non-progressive juvenile spinal muscular atrophy of the upper limbs, brachial monomelic amyotrophy, or benign focal atrophy, affects the C7 D1 myotomes; an electromyogram (EMG) shows neurogenic damage in the C7-C8-T1 territories. It causes weakness and amyotrophy of the distal upper limb. Although it usually occurs on one side only, bilateral symmetric cases of Hirayama disease have occasionally been described.
View Article and Find Full Text PDFMotor function and compound muscle action potential amplitude in children with spinal muscular atrophy treated with nusinersen.
Brain Dev
January 2025
Department of Neurology Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Chongqing, China. Electronic address:
Background: Disease-modifying therapies can improve motor function in patients with spinal muscular atrophy (SMA), but efficacy varies between individuals. The aim was to evaluate the efficacy and safety of nusinersen treatment in children with SMA and to investigate prognostic factors.
Methods: Motor function, compound muscle action potential (CMAP), and other indicators were prospectively collected before and 14 months after nusinersen treatment.
Biomarkers.
Alzheimers Dement
December 2024
National Institute of Neurological Disorders and Stroke, Rockville, MD, USA.
Background: Access to biospecimens is an oft cited challenge to the progress in research on neurological disorders. Access to clinical biospecimens for development of validated biomarkers and improved cellular models of Alzheimer's Disease and Alzheimer's Disease Related Dementias (AD/ADRD) are cited as priorities across several NIH AD/ADRD Research Implementation Milestones (https://www.nia.
View Article and Find Full Text PDFCalculation of the Minimal Clinically Important Difference in Upper and Lower Limb Motor Assessment in Spinal Muscular Atrophy.
Prog Rehabil Med
January 2025
Department of Rehabilitation Medicine, The Jikei University School of Medicine, Tokyo, Japan.
Objectives: Physical function assessments in patients with spinal muscular atrophy (SMA) are important indicators for assessing the effectiveness of treatment and changes over time in rehabilitation therapy. However, few reports exist on this indicator. This study calculated the minimal clinically important difference (MCID) for assessing motor function in the upper and lower limbs of individuals with SMA to estimate the degree of change within a functional score that is considered clinically meaningful.
View Article and Find Full Text PDFA high-fidelity CRISPR-Cas13 system improves abnormalities associated with C9ORF72-linked ALS/FTD.
Nat Commun
January 2025
Department of Bioengineering, The Grainger College of Engineering, University of Illinois Urbana-Champaign, Urbana, IL, USA.
An abnormal expansion of a GGGGCC (GC) hexanucleotide repeat in the C9ORF72 gene is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), two debilitating neurodegenerative disorders driven in part by gain-of-function mechanisms involving transcribed forms of the repeat expansion. By utilizing a Cas13 variant with reduced collateral effects, we develop here a high-fidelity RNA-targeting CRISPR-based system for C9ORF72-linked ALS/FTD. When delivered to the brain of a transgenic rodent model, this Cas13-based platform curbed the expression of the GC repeat-containing RNA without affecting normal C9ORF72 levels, which in turn decreased the formation of RNA foci, reduced the production of a dipeptide repeat protein, and reversed transcriptional deficits.
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