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Neural Stem/Progenitor Cell Therapy in Patients and Animals with Amyotrophic Lateral Sclerosis: A Systematic Review and Meta-analysis.
Mol Neurobiol
January 2025
Hebei Medical University-Galway University Stem Cell Research Center, Hebei Medical University, Shijiazhuang, Hebei Province, 050017, China.
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative malady that causes progressive degeneration and loss of motor neuron function in the brain and spinal cord, eventually resulting in muscular atrophy, paralysis, and death. Neural stem/progenitor cell (NSPC) transplantation can improve bodily function in animals and delay disease progression in patients with ALS. This paper summarizes and analyzes the efficacy and safety of neural stem/progenitor cell (NSPC) transplantation as a treatment for ALS, aiming to improve function and delay disease progression in patients.
View Article and Find Full Text PDFA Homozygous ATP2A2 Variant Alters Sarcoendoplasmic Reticulum Ca-ATPase 2 Function in Skeletal Muscle and Causes a Novel Vacuolar Myopathy.
Neuropathol Appl Neurobiol
February 2025
Department of Neurology, Neuromuscular Diseases Unit, Hospital de la Santa Creu i Sant Pau, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain.
Aims: Sarcoendoplasmic reticulum Ca-ATPase 2 (SERCA2), encoded by ATP2A2, is a key protein involved in intracellular Ca homeostasis. The SERCA2a isoform is predominantly expressed in cardiomyocytes and type I myofibres. Variants in this gene are related to Darier disease, an autosomal dominant dermatologic disorder, but have never been linked to myopathy.
View Article and Find Full Text PDFFulminant non-traumatic Clostridium perfringens necrotizing fasciitis and myonecrosis in a child with acute myeloid leukemia.
J Infect Public Health
December 2024
Department of Pediatric Infectious Diseases, Ministry of National Guard-Health Affairs (MNGHA), King Abdullah Specialist Children Hospital, Riyadh, Saudi Arabia; King Abdullah International Medical Research Centre, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs, Riyadh, Saudi Arabia; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City (KAMC), MNGHA, Riyadh, Saudi Arabia.
Necrotizing fasciitis is a potentially life-threatening infection that can lead to rapid muscular and fascial necrosis, often resulting in sepsis. In addition to the rapid disease progression, diagnosing this disease in children can be challenging as they cannot accurately communicate their symptoms. Spontaneous necrotizing fasciitis secondary to Clostridial infection has rarely been described in the literature but occurs in neutropenic patients with significant morbidity and mortality from myonecrosis and gas gangrene.
View Article and Find Full Text PDFChild Neurology: Severe -Related Congenital Muscular Dystrophy With Rapidly Progressive Encephalopathy Leading to Infantile Death.
Neurology
February 2025
Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada.
Pathogenic variants in cause congenital muscular dystrophy through hypoglycosylation of alpha-dystroglycan (OMIM #615350). The established phenotypic spectrum of GMPPB-related disorders includes recurrent rhabdomyolysis, limb-girdle muscular dystrophy, neuromuscular transmission abnormalities, and congenital muscular dystrophy with variable brain and eye anomalies. We report a 9-month-old male infant with congenital muscular dystrophy, infantile spasms, and compound heterozygous pathogenic variants (c.
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