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Evaluation of polygenic risk scores for hormones and receptors levels in patients with vestibulodynia: a case-control study.
J Sex Med
January 2025
Clinical Obstetric and Gynecological V Buzzi, ASST-FBF-Sacco, Via Castelvetro 24-20124-University of the Study of Milan, Milan, Italy.
Background: Vulvodynia is a multifactorial disease affecting 7%-16% of reproductive-aged women in general population; however, little is still known about the genetics underlying this complex disease.
Aim: To compare polygenic risk scores for hormones and receptors levels in a case-control study to investigate their role in vulvodynia and their correlation with clinical phenotypes.
Methods: Our case-control study included patients with vestibulodynia (VBD) and healthy women.
Characterization of a novel conditional knockout mouse model to assess efficacy of mRNA therapy in the context of severe ornithine transcarbamylase deficiency.
Mol Ther
January 2025
Moderna, Inc., Cambridge, MA, USA 02142. Electronic address:
Ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder, characterized by hyperammonemia and accompanied by a high unmet patient need. mRNA therapies have been shown to be efficacious in hypomorphic Sparse-fur abnormal skin and hair (Spf-ash) mice, a model of late-onset disease. However, studying the efficacy of ornithine transcarbamylase (OTC) mRNA therapy in traditional knockout mice, a model for severe early-onset OTCD, is hampered by the rapid lethality of the model, and poor lipid nanoparticle (LNP) uptake into neonatal mouse liver.
View Article and Find Full Text PDFDeveloping a decision support tool to predict delayed discharge from hospitals using machine learning.
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Department of Industrial Engineering, Dalhousie University, PO Box 15000, Halifax, B3H 4R2, NS, Canada.
Background: The growing demand for healthcare services challenges patient flow management in health systems. Alternative Level of Care (ALC) patients who no longer need acute care yet face discharge barriers contribute to prolonged stays and hospital overcrowding. Predicting these patients at admission allows for better resource planning, reducing bottlenecks, and improving flow.
View Article and Find Full Text PDFAssociation between four anthropometric indices with age-related Macular Degeneration from NHANES 2005-2008.
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Department of Ophthalmology, The First Affiliated Hospital of Nanchang University, Jiangxi Medical College, Nanchang University, Nanchang, Jiangxi, People's Republic of China.
Background: Age-related macular degeneration (AMD) decrease vision and presents considerable challenges for both public health and clinical management strategies. Obesity is usually implicated with increased AMD, and body mass index (BMI) does not reflect body fat distribution. An array of studies has indicated a robust relationship between body fat distribution and obesity.
View Article and Find Full Text PDFDiagnosis and treatment of pediatric arterial stenosis associated with neurofibromatosis type 1.
BMC Pediatr
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Department of Orthopedics, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, No.56, Nanlishi Road, Beijing, 100045, China.
Background: Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder affecting multiple systems. However, arterial stenosis is a rare manifestation in patients with NF1. Since the symptoms of arterial stenosis caused by NF1 are often atypical and have a high under-diagnosis rate, this can lead to serious complications such as hypertension, ischemic stroke, or even death.
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