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| http://dx.doi.org/10.3389/fnut.2022.868722 | DOI Listing |
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Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita.
Front Genet
December 2024
Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Myotonia congenita, both in a dominant (Thomsen disease) and recessive form (Becker disease), is caused by molecular defects in that encodes the major skeletal muscle chloride channel, ClC-1. This channel is important for the normal repolarization of muscle action potentials and consequent relaxation of the muscle, and its dysfunction leads to impaired muscle relaxation after voluntary or evoked contraction and muscle stiffness. More than 300 pathogenic variants have been found in association with congenital myotonia, inherited as recessive or dominant traits (with complete or incomplete penetrance).
View Article and Find Full Text PDFEditorial: Advances in the treatment of sexual precocity and infertility.
Front Endocrinol (Lausanne)
November 2024
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NIH), Bethesda, MD, United States.
Minimizing unnecessary brain magnetic resonance imaging in pediatric endocrinology: a retrospective cohort analysis.
Front Endocrinol (Lausanne)
September 2024
Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.
Background: Brain magnetic resonance imaging (MRI) is mandatory or highly recommended in many pediatric endocrinological conditions to detect causative anatomic anomalies and rule out neoplastic lesions. However, MRI can also show findings associated with the underlying clinical condition, as well as unrelated "incidentalomas". These latter findings are often abnormalities with a high incidence in the general population for which there is no clear literature regarding their management, especially in pediatric patients.
View Article and Find Full Text PDFReal-World Primary Resistance to First-Line Immune-Based Combinations in Patients with Advanced Renal Cell Carcinoma (ARON-1).
Target Oncol
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Oncology Unit, Macerata Hospital, Macerata, Italy.
Article Synopsis
- Advances in immuno-oncology have improved treatment for renal cell carcinoma, but patients with "primary refractory" disease have poor outcomes; our study found a 19% prevalence of this group among 1,709 metastatic clear cell patients across 72 centers in 22 countries.
- The highest primary refractory rate was 27% with nivolumab/ipilimumab, while pembrolizumab/lenvatinib had the lowest at 10%; those classified as primary refractory only had a median survival of 7.6 months compared to 55.7 months for non-primary refractory patients.
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Coronary microvascular dysfunction in autoimmune rheumatic diseases: beyond coronary flow velocity reserve.
Front Cardiovasc Med
August 2024
Department of Cardiac, Thoracic, and Vascular Sciences and Public Health, University of Padova, Padova, Italy.
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- Autoimmune rheumatic diseases (ARDs) lead to inappropriate immune responses that can significantly increase the risk of cardiovascular issues among patients, affecting their long-term health.
- Endothelial dysfunction and related factors contribute to conditions like atherosclerosis and coronary microvascular dysfunction (CMD), which impairs the heart's ability to respond to increased metabolic demands.
- Advanced imaging techniques, especially stress cardiac magnetic resonance (CMR) and the myocardial perfusion reserve index (MPRI), play a crucial role in detecting CMD in ARDs patients, allowing for early intervention to potentially prevent serious cardiac complications.
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