Background: In this study, we evaluated children who underwent prenatal myelomeningocele (MMC) repair to investigate the influence of the anatomical level of the lesion on functional motor skills and congenital orthopedic malformations.
Methods: This cross-sectional study evaluated children who underwent prenatal correction. The anatomical level of the lesion was classified by observing the magnetic resonance of the spine. The sensory/motor assessment was performed by physical examination to classify the status of ambulation, functional level, and functional performance according to chronological age using the Pediatric Evaluation of Disability Inventory (PEDI-CAT) scale.
Results: One hundred cases were evaluated; for 60%, lesions were located in the upper lumbar region and for 40%, they were located in the lower lumbar and sacral regions. The functionality, measured by the PEDI-CAT scale, showed a normal average according to age (mean 50), with 71% of children being community ambulators. Congenital orthopedic malformations were also unrelated to the injury levels, except for knee dislocation in relation to upper lumbar injury. At the functional level, we observed that for the majority, the levels of function of at least 2 vertebrae were below the anatomical level.
Conclusions: There were no differences in functional motor skills, walking pattern, or congenital orthopedic malformation when compared with the anatomical level of injury in patients who underwent prenatal repair of MMC, except for congenital knee dislocation.
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http://dx.doi.org/10.1016/j.wneu.2021.02.038 | DOI Listing |
Mol Biol Rep
January 2025
Department of Pharmacology, School of Health Sciences, Central University of Punjab, Bathinda, 151401, India.
Background: Multiple sclerosis (MS) is a chronic autoimmune condition that damages the myelin sheath of neurons in the central nervous system, resulting in compromised nerve transmission and motor impairment. The astrocytopathy is considered one of the prominent etiological factor in the pathophysiology of demyelination in MS. The expression level of ceramide synthase-2 (CS-2) is yet to be established in the pathophysiology of astrocytopathy although the derailed ceramide biosynthetic pathways is well demonstrated in the pathophysiology of demyelination.
View Article and Find Full Text PDFJ Biol Phys
January 2025
Laboratory of Soft Matter Physics, Institute of Physics, Chinese Academy of Science, Beijing, 100190, China.
Conventional kinesin protein is a prototypical biological molecular motor that can step processively on microtubules towards the plus end by hydrolyzing ATP molecules, performing the biological function of intracellular transports. An important characteristic of the kinesin is the load dependence of its velocity, which is usually measured by using the single molecule optical trapping method with a large-sized bead attached to the motor stalk. Puzzlingly, even for the same kinesin, some experiments showed that the velocity is nearly independent of the forward load whereas others showed that the velocity decreases evidently with the increase in the magnitude of the forward load.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Medicine, Surgery and Dentistry, Center for Neurodegenerative Diseases (CEMAND), University of Salerno, Fisciano, Italy.
Subtle gait and cognitive dysfunction are common in Parkinson's disease (PD), even before most evident clinical manifestations. Such alterations can be assumed as hypothetical phenotypical and prognostic/progression markers. To compare spatiotemporal gait parameters in PD patients with three cognitive status: cognitively intact (PD-noCI), with subjective cognitive impairment (PD-SCI) and with mild cognitive impairment (PD-MCI) in order to detect subclinical gait differences.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, 82, Gumi-ro 173beon-gil, Bundang-gu, Seongnam, 13620, Gyeonggi-do, Republic of Korea.
Duane retraction syndrome (DRS) is complicated to treat due to its wide spectrum of clinical presentations and the treatment of choice varies among surgeons. To provide insight into this challenging condition, we evaluated the long-term surgical outcomes of esotropic DRS type 1. The surgical motor success, defined as a horizontal deviation of 8 prism diopters (PD) or less, was found in 77.
View Article and Find Full Text PDFLife Sci Alliance
April 2025
Telethon Institute of Genetics and Medicine, TIGEM, Pozzuoli, Italy
Protein aggregates in motoneurons, a pathological hallmark of amyotrophic lateral sclerosis, have been suggested to play a key pathogenetic role. ALS8, characterized by ER-associated inclusions, is caused by a heterozygous mutation in VAPB, which acts at multiple membrane contact sites between the ER and almost all other organelles. The link between protein aggregation and cellular dysfunction is unclear.
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