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Pushing the boundaries: future directions in the management of spinal muscular atrophy.
Trends Mol Med
January 2025
MDUK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford, OX3 9DU, UK; NIHR Oxford Biomedical Research Centre, Oxford, OX3 9DU, UK; Neuromuscular Centre, Division of Paediatrics, University Hospital of Liège and University of Liège, 4000, Liège, Belgium. Electronic address:
Spinal muscular atrophy (SMA) is a devastating, degenerative, paediatric neuromuscular disease which until recently was untreatable. Discovery of the responsible gene 30 years ago heralded a new age of pioneering therapeutic developments. Three disease-modifying therapies (DMTs) have received regulatory approval and have transformed the disease, reducing disability and prolonging patient survival.
View Article and Find Full Text PDFPrenatal visualization of the fetal uterus in routine 2D ultrasound examination.
Ann Med
December 2025
Department of Nursing, Faculty of Health Sciences of Ceuta, University of Granada, Ceuta, Spain.
Objective: To establish a new technique to easily identify the fetal cervix-uterus complex in normal female fetuses from 20 to 40 weeks of gestation.
Material And Methods: The study was performed in routine examination in normal fetuses by two observers. Twenty-five consecutive cases per gestational week were assessed between 20 and 40 weeks.
Occupational physical activity and cardiovascular disease mortality in the United States, 1988-2019.
BMC Public Health
January 2025
Department of Epidemiology, Fielding School of Public Health, University of California Los Angeles, Los Angeles, CA, 90095, USA.
Background: Although leisure time physical activity (LTPA) is a beneficial factor for cardiovascular disease (CVD) mortality, relationships between occupational physical activity (OPA) and CVD mortality are inconclusive. We aimed to examine prospective associations of OPA with CVD mortality using a large representative sample of adult workers in the United States (US), and explore how socioeconomic status (SES) may influence these associations.
Methods: This cohort study included US workers (≥ 18 years) participating in the 1988 National Health Interview Survey (NHIS) and passively followed until December 31, 2019.
Oligometastatic Disease Is Not an Absolute Contraindication to Pelvic Exenteration in Selected Patients With Locally Recurrent Rectal Cancer.
Dis Colon Rectum
December 2024
Surgical Outcomes Research Centre (SOuRCe), Royal Prince Alfred Hospital, Sydney, Australia.
Background: The treatment of locally recurrent rectal cancer has evolved dramatically in recent decades. As the boundaries of exenterative surgery continue to be pushed, one of the unanswered and controversial questions is the role of radical salvage surgery for locally recurrent rectal cancer in the setting of oligometastatic disease.
Objective: To investigate the impact of synchronous or previously treated distant metastases on survival following pelvic exenteration for locally recurrent rectal cancer.
Tumor mutational burden: why is it still a controversial agnostic immunotherapy biomarker?
Future Oncol
December 2024
Department of Hematology-Oncology, Université Saint-Joseph de Beyrouth, Beyrouth, Lebanon.
For the past few years, researchers and oncologists have been pushing to find biomarkers that would help predict which treatment option would best work on a patient. Tumor Mutational Burden (TMB) is one of the latest biomarkers that is being studied and considered as a promising agnostic immunotherapy biomarker. However, it still shows controversial results in studies due to the difficulty in finding solid comparable results.
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