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The PROPHECI trial: a phase II, double-blind, placebo-controlled, randomized clinical trial for the treatment of pseudoxanthoma elasticum with oral pyrophosphate.
Trials
January 2025
Université Côte d'Azur, CNRS, LP2M, Nice, France.
Background: /aims. Pseudoxanthoma Elasticum (PXE, OMIM 264800) is an autosomal, recessive, metabolic disorder characterized by progressive ectopic calcification in the skin, the vasculature and Bruch's membrane. Variants in the ABCC6 gene are associated with low plasma pyrophosphate (PPi) concentration.
View Article and Find Full Text PDFSexual dysfunction and quality of life across age groups in multiple sclerosis patients: a prospective cross-sectional analysis.
BMC Neurol
January 2025
School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
Introduction: As the most frequent chronic neurological disorder in young adults, Multiple sclerosis (MS) significantly affects neurological function, particularly the autonomic nervous system. While the physical symptoms are visible, MS also causes hidden effects like sexual dysfunction. Research indicates that sexual disorders are more prevalent in MS patients compared to other neurological conditions and are approximately five times more common than in the general population.
View Article and Find Full Text PDFSolving unknown primary cancer with earlier diagnosis - the SUPER-ED trial: study protocol for a stepped-wedge cluster randomised controlled trial to support earlier diagnosis for people presenting with malignancy of undefined primary origin.
BMC Cancer
January 2025
Peter MacCallum Cancer Centre, Parkville, Victoria, Australia.
Background: People with malignancy of undefined primary origin (MUO) have a poor prognosis and may undergo a protracted diagnostic workup causing patient distress and high cancer related costs. Not having a primary diagnosis limits timely site-specific treatment and access to precision medicine. There is a need to improve the diagnostic process, and healthcare delivery and support for these patients.
View Article and Find Full Text PDFMental Well-being in Menopause.
Obstet Gynecol Clin North Am
March 2025
Department of Obstetrics and Gynecology, University of Colorado School of Medicine, Anschutz Medical Campus, Aurora, CO 80045, USA. Electronic address:
The hormonal changes that accompany the transition to menopause are disruptive to most women, and for some, mental health maybe adversely affected. Depressive symptoms and major depression are the best-studied conditions in association with menopause, but anxiety, executive function, and comorbid pre-existing psychiatric conditions all influence the symptomatology that women will experience during this phase of their lives. The epidemiology, diagnosis, and evidence-based treatment guidelines for perimenopausal patients are discussed.
View Article and Find Full Text PDFQuality of Life in Tourette Syndrome.
Psychiatr Clin North Am
March 2025
Department of Neuropsychiatry, BSMHFT and University of Birmingham, Birmingham, UK; Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology and University College London, London, UK; School of Life and Health Sciences, Aston Brain Centre, Aston University, Birmingham, UK; School of Medicine and Surgery, University of Milano-Bicocca, Milan, Italy. Electronic address:
Research conducted since the turn of the millennium has shown that the quality of life in patients with Tourette syndrome is affected by various health-related factors. The condition's chronic nature, along with its social and emotional implications, can significantly diminish the overall quality of life. Both core symptoms-motor and vocal tics-and associated comorbidities can contribute to functional impairments and reduced well-being.
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