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Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community.
Int J Neonatal Screen
January 2025
Cellular, Molecular and Genomics Biomedicine Group, La Fe Health Research Institute, 46026 Valencia, Spain.
Spinal muscular atrophy (SMA) is a degenerative neuromuscular condition resulting from a homozygous deletion of the survival motor neuron 1 () gene in 95% of patients. A timely diagnosis via newborn screening (NBS) and initiating treatment before the onset of symptoms are critical for improving health outcomes in affected individuals. We carried out a screening test by quantitative PCR (qPCR) to amplify the exon seven of using dried blood spot (DBS) samples.
View Article and Find Full Text PDFComprehensive Analysis Reveals the Potential Diagnostic Value of Biomarkers Associated With Aging and Circadian Rhythm in Knee Osteoarthritis.
Orthop Surg
January 2025
Department of Orthopedics, Tianjin Medical University General Hospital, International Science and Technology Cooperation Base of Spinal Cord Injury, Tianjin Key Laboratory of Spine and Spinal Cord, Tianjin, China.
Objective: Knee osteoarthritis (KOA) is characterized by structural changes. Aging is a major risk factor for KOA. Therefore, the objective of this study was to examine the role of genes related to aging and circadian rhythms in KOA.
View Article and Find Full Text PDFZebrafish PEX1 Is Required for the Generation of GABAergic Neuron in p3 Domain.
Dev Reprod
December 2024
Department of Chemical and Biological Engineering, Hanbat National University, Daejeon 34158, Korea.
Maintenance of neural progenitors requires Notch signaling in vertebrate development. Previous study has shown that Jagged2-mediated Notch signaling maintains proliferating neural progenitors in the ventral spinal cord. However, components for Jagged-mediated signaling remain poorly defined during late neurogenesis.
View Article and Find Full Text PDFEvaluation of Hydatid Cyst Cases: A Single-center Retrospective Study.
Turkiye Parazitol Derg
January 2025
University of Health Sciences Türkiye, Kartal Dr. Lütfi Kırdar City Hospital, Clinic of Infectious Diseases and Clinical Microbiology, İstanbul, Türkiye.
Objective: Cystic echinococcosis (CE) is a zoonotic condition that can be encountered, particularly in developing countries, and leads to significant economic losses. This study was planned to observe the treatment options, complications, in the patients we followed.
Methods: Patients aged 18 and over who were diagnosed with hydatid cyst and followed in our hospital between January 2018 and December 2023 were included in the study.
Following Up Patients With Chronic Pain Using a Mobile App With a Support Center: Unicenter Prospective Study.
JMIR Hum Factors
January 2025
Department of Neurosurgery, Hospital Universitario Virgen de las Nieves, Av. Juan Pablo II s/n, Granada, 18013, Spain, 34 699699250.
Background: Chronic pain is among the most common conditions worldwide and requires a multidisciplinary treatment approach. Spinal cord stimulation is a possible treatment option for pain management; however, patients undergoing this intervention require close follow-up, which is not always feasible. eHealth apps offer opportunities for improved patient follow-up, although adherence to these apps tends to decrease over time, with rates dropping to approximately 60%.
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