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Pain Management in Pediatrics: What the IR has to Offer.
Cardiovasc Intervent Radiol
January 2025
Clínical Area of Medical Imaging and Biomedical Imaging Research Group (GIBI230), Hospital Universitario y Politécnico La Fe - Instituto de Investigación Sanitaria La Fe, Valencia, Spain.
Pediatric pain management presents unique challenges due to the intrinsic characteristics of children such as their developmental stages, communication barriers, and varying pain perceptions. Life-limiting conditions affecting children are a growing medical concern, requiring a comprehensive, multidisciplinary approach to improve quality of life or ensure a dignified end of life. Interventional radiology (IR) plays a critical role in this strategy, similar to its role in adult care.
View Article and Find Full Text PDFEfficacy of Cystic Fibrosis Transmembrane Regulator Corrector C17 in Beta-Sarcoglycanopathy-Assessment of Patient's Primary Myotubes.
Int J Mol Sci
December 2024
Department of Biomedical Sciences, University of Padova, Via U. Bassi 58/B, 35131 Padova, Italy.
Limb-girdle muscular dystrophy type 2E/R4 (LGMD2E/R4) is a rare disease that currently has no cure. It is caused by defects in the gene, mainly missense mutations, which cause the impairment of the sarcoglycan complex, membrane fragility, and progressive muscle degeneration. Here, we studied the fate of some β-sarcoglycan (β-SG) missense mutants, confirming that, like α-SG missense mutants, they are targeted for degradation through the ubiquitin-proteasome system.
View Article and Find Full Text PDF[The repercussions of variations in ambient air pressure on pulmonary airway dystrophy. Applications to scuba diving with mask, commercial air travel and stays in high-altitude settings].
Rev Mal Respir
December 2024
Service de pneumologie, hôpital de la Croix-Rousse, 69004 Lyon, France.
Article Synopsis
- Pulmonary airway dystrophy (PAD) is a rare condition that can be either inherited or developed, with limited research on how air pressure changes during airplane trips or high-altitude situations impact it.
- Studies indicate that all PAD cases have been linked to accidents during exposure to varying air pressures, necessitating careful consideration of each individual case to tailor recommendations based on the disease's origin and severity.
- Establishing a register for cases of barotrauma in individuals with cystic lung disease or pulmonary bullae related to PAD could provide valuable insights and improve patient management.
Posterior segment findings in a patient with a biallelic pathogenic variant.
Am J Ophthalmol Case Rep
December 2024
Genomic Laboratory, Umraniye Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.
Article Synopsis
- A 25-year-old man diagnosed with retinitis pigmentosa (RP) showed distinct posterior segment abnormalities during examination, including bone spicule pigmentation and retinal atrophy.
- Findings from advanced imaging techniques like optical coherence tomography (OCT) revealed unique wavy protrusions on the inner retinal surface, leading to non-cystic petaloid maculopathy and changes in choroidal thickness.
- The patient's condition not only highlighted the retinal involvement linked to a genetic variant but also raised concerns about potential syndromic associations, including a major depressive disorder requiring hospitalization.
Gene Therapy: Towards a New Era of Medicine.
AAPS PharmSciTech
December 2024
Chitkara College of Pharmacy, Chitkara University, Rajpura, Punjab, India.
Over the past years, many significant advances have been made in the field of gene therapy and shown promising results in clinical trials conducted. Gene therapy aims at modifying or replacing a defective, inefficient, or nonfunctional gene with a healthy, functional gene by administration of genome material into the cell to cure genetic diseases. Various methods have been devised to do this by using several viral and non-viral vectors which are either administered by in vivo or ex vivo technique.
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