No effective treatment for McArdle disease exists.We report a Japanese patient with McArdle disease who was treated with vitamin B(6) supplementation (60-90 mg/day). After treatment, increased muscle phosphorylase activity was confirmed by follow-up muscle biopsy (3.8 times higher than pretreatment levels). Increased lactate levels were seen on the forearm exercise test, and regular work activities could be resumed. Vitamin B(6) supplementation can enhance residual phosphorylase activity and improve insufficient anaerobic glycolysis of skeletal muscle.
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http://dx.doi.org/10.1002/mus.22290 | DOI Listing |
Int J Surg
December 2024
Department of Oncology and Cancer Institute, Sichuan Academy of Medical Sciences, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.
Background: Biological evidence has revealed antitumor effect of vitamin D, but whether it could predict the response to neoadjuvant chemotherapy (NAC) in breast cancer (BC) patients remains inconclusive. The aim was to investigate the association between pretreatment vitamin D level and response to NAC and subsequent survival outcomes in BC patients.
Materials And Methods: The authors systematically searched the Medline, Embase, Cochrane Library, and Web of Science databases and clinical trial registries to identify relevant articles from inception to 8 October 2024.
BMJ Open
December 2024
Division of Nephrology, Department of Internal Medicine, Showa University Graduate School of Medicine, Shinagawa-ku, Tokyo, Japan.
Introduction: Coenzyme Q10 (CoQ10) is a fat-soluble vitamin-like quinone. The plasma levels of CoQ10 are reduced in patients with chronic kidney disease (CKD). CoQ10 supplementation can improve mitochondrial function and decrease oxidative stress in these patients.
View Article and Find Full Text PDFJ Med Food
January 2025
Integrative Skin Science and Research, Sacramento, California, USA.
Photoprotective effects of various nutritional components and supplements have been demonstrated in animal and studies. The objective of this systematic review is to assess the photoprotective effects of various dietary supplements. A systematic review of studies assessing dietary supplements on photoprotective outcomes was performed.
View Article and Find Full Text PDFJ Pediatr Endocrinol Metab
January 2025
Department of Medical Genetics, Demiroglu Bilim University Faculty of Medicine, Istanbul, Türkiye.
Objectives: HSD3B7 deficiency is a genetic disorder caused by mutations in the gene, leading to impaired bile acid synthesis and the accumulation of toxic intermediates. Affected patients typically present with cholestatic liver disease, including jaundice and progressive liver dysfunction.
Case Presentation: This case series describes three pediatric patients from two families diagnosed with HSD3B7 deficiency, each demonstrating varying clinical severity and outcomes.
This article provides an overview of vitamin C for preventing and treating respiratory infections. Studies in a wide variety of animals have shown vitamin C to be protective against infections. In controlled trials in the general human population, >1 g/day vitamin C did not prevent common colds.
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