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An unusual cause of hypertrophic cardiomyopathy in an infant: A case report and brief literature review.
Tunis Med
January 2025
University of Sfax, Military University Hospital of Sfax, Cardiology Department, Sfax, Tunisia.
Introduction: Nemaline myopathy (NM), also known as Nemalinosis, is a rare congenital muscle disease with an incidence of 1 in 50000. It is characterized by nemaline rods in muscle fibers, leading to muscle weakness. We reported a case of NM revealed by cardiac involvement, and we highlighted the challenges in diagnosing this condition as well as its poor prognosis.
View Article and Find Full Text PDFOnasemnogene Abeparvovec is Safe in Hemolytic Disease of the Newborn: A Case Report.
Neuropediatrics
December 2024
Department of Physiotherapy, King Fahd Specialist Hospital, Dammam, Saudi Arabia.
Spinal muscular atrophy (SMA) is a rare autosomal recessive genetic disease caused by Survival Motor Protein 1 () gene mutations. Classically divided into three types, SMA is characterized by hypotonia, weakness, and tongue fasciculation in the first 6 months of life in type 1, inability to walk and limb weakness in type 2, and failure to run with proximal weakness in type 3 SMA. With the advent of newborn screening, treating presymptomatic patients with Onasemnogene abeparvovec (OA) is the treatment of choice in some centers worldwide.
View Article and Find Full Text PDFUltrasonography for Assessment and Intervention With Botulinum Toxin Injection for Tremors.
Ann Rehabil Med
December 2024
Department of Rehabilitation Medicine, National Rehabilitation Center, Ministry of Health and Welfare, Seoul, Korea.
Objective: Tremors are caused by contractions of reciprocally innervated muscles. The role of ultrasound in diagnosing tremors has not yet been investigated, although it appears to be promising because it can visualize muscle movements. In the present study, we report four cases of tremor (Holmes' tremor, extremity tremor associated with palatal myoclonus, dystonic tremor, and tremor associated with dystonia), which were evaluated using ultrasound and treated with botulinum toxin injections.
View Article and Find Full Text PDFFloppy Infant with Tongue Fasciculations: Not Always Spinal Muscular Atrophy.
Indian J Pediatr
November 2024
Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India.
Preemptive dual therapy for children at risk for infantile-onset spinal muscular atrophy.
Ann Clin Transl Neurol
July 2024
Clinic for Special Children, Gordonville, Pennsylvania, USA.
Objective: Compare efficacy of gene therapy alone (monotherapy) or in combination with an SMN2 augmentation agent (dual therapy) for treatment of children at risk for spinal muscular atrophy type 1.
Methods: Eighteen newborns with biallelic SMN1 deletions and two SMN2 copies were treated preemptively with monotherapy (n = 11) or dual therapy (n = 7) and followed for a median of 3 years. Primary outcomes were independent sitting and walking.
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