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Bone marrow transplantation reverses metabolic alterations in multiple sulfatase deficiency: a case series.
Commun Med (Lond)
January 2025
Department of Pediatrics, Division of Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN, USA.
Background: Multiple sulfatase deficiency (MSD) is an exceptionally rare neurodegenerative disorder due to the absence or deficiency of 17 known cellular sulfatases. The activation of all these cellular sulfatases is dependent on the presence of the formylglycine-generating enzyme, which is encoded by the SUMF1 gene. Disease-causing homozygous or compound heterozygous variants in SUMF1 result in MSD.
View Article and Find Full Text PDFChildhood hand, foot and mouth disease sequelae cohort study in Henan, China: cohort profile.
BMJ Open
January 2025
College of Public Health, Zhengzhou University, Zhengzhou, Henan, China
Purpose: The childhood hand, foot and mouth disease (HFMD) sequelae cohort study (HNHFMDCS) is an ambispective cohort study of patients with HFMD based in Henan Province, China, consisting of patients treated in a key hospital for the diagnosis and treatment of HFMD in Henan Province. The study aims to investigate the long-term sequelae of HFMD survivors and to provide a comprehensive understanding of the potential harm caused by this infectious disease.
Participants: In the retrospective phase of the cohort study, children diagnosed with HFMD from January 2014 to January 2023 were included, and clinical and demographic information about the patients was collected through a self-developed questionnaire.
Randomised double-blind placebo-controlled trial protocol to evaluate the therapeutic efficacy of lyophilised faecal microbiota capsules amended with next-generation beneficial bacteria in individuals with metabolic dysfunction-associated steatohepatitis.
BMJ Open
January 2025
Amsterdam UMC Locatie AMC, Amsterdam, Netherlands.
Background: The spectrum of metabolic dysfunction-associated steatotic liver disease (MASLD) is highly prevalent, affecting 30% of the world's population, with a significant risk of hepatic and cardiometabolic complications. Different stages of MASLD are accompanied by distinct gut microbial profiles, and several microbial components have been implicated in MASLD pathophysiology. Indeed, earlier studies demonstrated that hepatic necroinflammation was reduced in individuals with MASLD after allogenic faecal microbiota transplantation (FMT) from healthy donors on a vegan diet.
View Article and Find Full Text PDFIntramolecular distance-regulated G4 DNA enzymatic activity-based chromophotometric system for visual monitoring of diquat.
Anal Chim Acta
January 2025
Key Laboratory of Luminescence Analysis and Molecular Sensing (Southwest University), Ministry of Education, College of Chemistry and Chemical Engineering, Southwest University, Chongqing, 400715, PR China. Electronic address:
Background: As global food production continues to surge, the widespread use of herbicides has also increased concurrently, posing challenges like health risks and environmental pollution. Traditional detection methods for pesticide residues, such as diquat (DQ), were hampered by limitations like high expenses, lengthy detection times and complex operations, restricting their practical application in rapid clinical diagnosis.
Results: In light of the pressing necessity for the identification of minute pesticide residues and the intrinsic constraints of small molecule analysis, a novel chromophotometric biosensor targeting small molecules was developed based on bi-epitopes on single antibody to immobilize two DQ-PAL, inhibiting the hybridization of DQ-PAL.
Wood membrane: A sustainable electrochemical platform for enzyme-free and pretreatment-free monitoring uric acid in bodily fluids.
Anal Chim Acta
January 2025
School of Forensic Medicine, China Medical University, No.77 Puhe Road, Shenyang, Liaoning, 110122, China. Electronic address:
The detection of biomarkers is crucial for assessing disease status and progression. Uric acid (UA), a common biomarker in body fluids, plays an important role in the diagnosis and monitoring of conditions such as hyperuricemia, chronic kidney disease, and cardiovascular disease. However, the low concentration of UA in non-invasive body fluids, combined with numerous interfering substances, makes its detection challenging.
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