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PHEMI-Phenylbutyrate in Patients With Lactic Acidosis: A Pilot, Single Arm, Phase I/II, Open-Label Trial.
Clin Ther
March 2025
Fondazione IRCCS Istituto Neurologico Carlo Besta, Medical Genetics and Neurogenetics Unit, Milan, Italy. Electronic address:
Purpose: The 6 months pilot, single arm, phase I/II, open-label clinical trial PHEMI investigated the safety and efficacy of daily administration of phenylbutyrate in reducing lactic acidosis by at least 20% in 3 children (ages 7-10 yrs) with pyruvate dehydrogenase deficiency and 6 adults with mitochondrial myopathy encephalopathy lactic acidosis and stroke-like episodes. As a side study, we investigated the response to phenylbutyrate treatment in skin fibroblasts and cybrids derived from PHEMI patients with the aim of unraveling a possible in vivo-in vitro correlation.
Methods: Safety was assessed through the collection of vital signs, clinical evaluations, blood samples, and reported adverse events.
Comprehensive phenotyping combined with multi-omics of Salmonella Infantis and its HS negative variant - Resolving adaption mechanisms to environmental changes.
Food Microbiol
August 2025
Clinic for Poultry and Fish Medicine, Department for Farm Animals and Veterinary Public Health, University of Veterinary Medicine Vienna, Veterinärplatz 1, 1210, Vienna, Austria.
The zoonotic pathogen S. Infantis is of emerging importance, making detection in poultry critical. Phenotypic changes, which are significant for standardized control programs via EN/ISO 6579-1:2017, could lead to pathogens remaining undetected, increasing the risk of food-borne outbreaks.
View Article and Find Full Text PDFEffects of a 12-week lower limb resistance training with breathing regulation in patients with diabetes-related foot ulcers: A randomized controlled trial.
Appl Nurs Res
April 2025
School of Nursing, National Taipei University of Nursing and Health Sciences, 365 Minte Road, Peitou District, Taipei 1112, Taiwan. Electronic address:
Patients with diabetes-related foot ulcers may require hospitalization and face an increased risk of amputation, which can significantly impact their quality of life. One potential solution is exercise, which can regulate blood glucose levels, improve wound healing, and enhance overall well-being. This randomized controlled trial aimed to evaluate the impact of a lower limb resistance training program combined with breathing-regulation techniques on glycemic control, wound healing, and quality of life in patients with diabetes-related foot ulcers.
View Article and Find Full Text PDFEvaluation of hypoxia pathway genes and serum parameters in new coronavirus pneumonia (COVID-19).
Gene
March 2025
Health Sciences University, Ankara Bilkent City Hospital, Department of Anesthesiology and Reanimation, Ankara, Turkey.
Background: Coronavirus disease-2019 (COVID-19) causes severe hypoxemia. Unlike normal pneumonia, pneumonia due to COVID-19 causes oxygen deprivation without breathing difficulties (i.e.
View Article and Find Full Text PDFIdentifying allergic and non-allergic type 2 asthma endotypes: moving beyond blood eosinophil counts and fractional exhaled nitric oxide.
J Allergy Clin Immunol
March 2025
National Heart & Lung Institute, Imperial College London, Dovehouse Street, London SW3 6LY.
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