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http://dx.doi.org/10.1038/jp.2013.53 | DOI Listing |
Orphanet J Rare Dis
December 2024
Department of Internal Medicine D, and Interdisciplinary Fabry Center (IFAZ), University Hospital Muenster, Muenster, Germany.
Background: The aim of our multicenter study was to investigate the implementation of the European Fabry guidelines on therapeutic recommendations in female patients with Fabry disease (FD) and to analyze the impact of enzyme replacement therapy (ERT) in treated and untreated females.
Results: Data from 3 consecutive visits of 159 female FD patients from 6 Fabry centers were retrospectively analyzed. According to their treatment, patients were separated in 3 groups (untreated, n = 71; newly ERT-treated, n = 47; long-term ERT-treated, n = 41).
BMC Cancer
December 2024
Department of Data Science, Faculty of Interdisciplinary Science and Technology, Tarbiat Modares University, Tehran, Iran.
Glioblastoma Multiforme (GBM), classified as a grade IV glioma by the World Health Organization (WHO), is a prevalent and notably aggressive form of brain tumor derived from glial cells. It stands as one of the most severe forms of primary brain cancer in humans. The median survival time of GBM patients is only 12-15 months, making it the most lethal type of brain tumor.
View Article and Find Full Text PDFSpinal Cord Ser Cases
December 2024
Institut Universitaire sur la Réadaptation en Déficience Physique de Montréal - Centre for Interdisciplinary Research in Rehabilitation, Montréal, QC, Canada.
Study Design: Quasi-experimental pilot study.
Objectives: Evaluate the immediate effect of virtual reality (VR), gait-like muscle vibration (MV) and transcranial direct current stimulation (tDCS) combined or alone on neuropathic pain in individuals with spinal cord injury (SCI).
Setting: Inpatient rehabilitation centre.
Pediatr Transplant
February 2025
Division of Critical Care, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA.
Background: Pediatric solid organ transplantation is challenging due to the limited availability of suitable organs resulting in an increasing waitlist. Many pediatric transplant recipients receive organs from deceased donors, often after neurologic determination of death. Organ donation from patients on extracorporeal membrane oxygenation (ECMO) at the time of death has been described in adults, offering the potential for donation after circulatory determination of death (DCDD) with minimal ischemia time.
View Article and Find Full Text PDFJAMA Netw Open
December 2024
Department of Radiation Oncology, Wake Forest University School of Medicine, Winston-Salem, North Carolina.
Importance: Radiotherapy (RT) plan quality is an established predictive factor associated with cancer recurrence and survival outcomes. The addition of radiologists to the peer review (PR) process may increase RT plan quality.
Objective: To determine the rate of changes to the RT plan with and without radiology involvement in PR of radiation targets.
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