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Motor neuron diseases are not exclusively motor; the SSR paradigm.
Amyotroph Lateral Scler Frontotemporal Degener
January 2025
2nd Second Department of Neurology, National and Kapodistrian University of Athens, School of Medicine, Attikon University Hospital, Athens, Greece.
Motor Neuron Diseases (MNDs), familial and sporadic, are progressive neurodegenerative disorders that, for an extended period in the past, were considered purely motor disorders. During the course of the disease, however, some patients exhibit concomitant non-motor signs; thus, MNDs are currently perceived as multisystem disorders. Assessment of non-motor symptoms is usually performed clinically, although laboratory tests can also be routinely used to objectively evaluate these symptoms.
View Article and Find Full Text PDFAssessing Clinical Improvement of Infants Hospitalized for Respiratory Syncytial Virus-Related Critical Illness.
J Infect Dis
January 2025
Department of Anesthesiology, Critical Care, and Pain Medicine, Boston Children's Hospital, Boston, Massachusetts, USA.
Background: Pediatric respiratory syncytial virus (RSV)-related acute lower respiratory tract infection (LRTI) commonly requires hospitalization. The Clinical Progression Scale Pediatrics (CPS-Ped) measures level of respiratory support and degree of hypoxia across a range of disease severity, but it has not been applied in infants hospitalized with severe RSV-LRTI.
Methods: We analyzed data from a prospective surveillance registry of infants hospitalized for RSV-related complications across 39 U.
A Comparative Study of the Electroneurographic Findings in Amyloidotic Polyneuropathy in Patients with Light-Chain Amyloidosis and Glu54Gln Transthyretin Amyloidosis.
Medicina (Kaunas)
December 2024
Fundeni Clinical Institute, 022328 Bucharest, Romania.
: Amyloidosis is a disorder characterized by the abnormal folding of proteins, forming insoluble fibrils that accumulate in tissues and organs. This accumulation disrupts normal tissue architecture and organ function, often with serious consequences, including death if left untreated. Light-chain amyloidosis (AL) and hereditary transthyretin-type amyloidosis (hATTR) are two of the most common types.
View Article and Find Full Text PDFCorrection of aberrant splicing of ELP1 pre-mRNA by kinetin derivatives - A structure activity relationship study.
Eur J Med Chem
February 2025
Laboratory of Experimental Biology, Faculty of Science, Palacký University, Šlechtitelů 27, CZ-78371 Olomouc, Czech Republic; Institute of Molecular and Translational Medicine, Faculty of Medicine and Dentistry, Palacký University, Hněvotínská 3, 775 15 Olomouc, Czech Republic. Electronic address:
Familial dysautonomia is a debilitating congenital neurodegenerative disorder with no causative therapy. It is caused by a homozygous mutation in ELP1 gene, resulting in the production of the transcript lacking exon 20. The compounds studied as potential treatments include the clinical candidate kinetin, a plant hormone from the cytokinin family.
View Article and Find Full Text PDFEngineered CRISPR-Base Editors as a Permanent Treatment for Familial Dysautonomia.
bioRxiv
December 2024
Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA.
Article Synopsis
- - Familial dysautonomia (FD) is a serious inherited disorder caused by a specific genetic mutation that leads to neurological and systemic issues, resulting in shorter life expectancy for those affected.
- - Researchers developed a CRISPR base editor that can precisely correct the T-to-C mutation causing FD, achieving up to 70% successful editing in cell tests and improving the inclusion of a specific gene exon by over 50%.
- - The study also included an effective delivery method using engineered adeno-associated virus vectors, demonstrating that this approach can correct genetic defects in neurons and shows promise for a potential permanent treatment for FD with minimal side effects.
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