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Purpose: The purpose of this paper is to provide an overview of the methodology used to estimate radiation genetic risks and quantify the risk of hereditary effects as outlined in the ICRP Publication 103. It aims to highlight the historical background and development of the doubling dose method for estimating radiation-related genetic risks and its continued use in radiological protection frameworks.
Results: This article emphasizes the complexity associated with quantifying the risk of hereditary effects caused by radiation exposure and highlights the need for further clarification and explanation of the calculation method. As scientific knowledge in radiation sciences and human genetics continues to advance in relation to a number of factors including stability of disease frequency, selection pressures, and epigenetic changes, the characterization and quantification of genetic effects still remains a major issue for the radiological protection system of the International Commission on Radiological Protection.
Conclusion: Further research and advancements in this field are crucial for enhancing our understanding and addressing the complexities involved in assessing and managing the risks associated with hereditary effects of radiation.
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http://dx.doi.org/10.1080/09553002.2023.2295289 | DOI Listing |
Brain
September 2025
Departamento de Fisiología, Facultad de Medicina, Universidad de Granada, 18016 Granada, Spain.
Primary coenzyme Q (CoQ) deficiency is a mitochondrial disorder with variable clinical presentation and limited response to standard CoQ10 supplementation. Recent studies suggest that 4-hydroxybenzoic acid (4-HBA), a biosynthetic precursor of CoQ, may serve as a substrate enhancement treatment in cases caused by pathogenic variants in COQ2, a gene encoding a key enzyme in CoQ biosynthesis. However, it remains unclear whether 4-HBA is required throughout life to maintain health, whether it offers advantages over CoQ10 treatment, and whether these findings are translatable to humans.
View Article and Find Full Text PDFDan Med J
August 2025
Department of Cardiology, Copenhagen University Hospital - Bispebjerg and Frederiksberg Hospital.
Introduction: Cardiac amyloidosis is an underdiagnosed disease, and its prevalence is probably higher than previously estimated. We aimed to investigate the effect of introducing a systemic diagnostic algorithm for cardiac amyloidosis in clinical practice.
Methods: A systematic diagnostic algorithm was developed and clinically applied in two hospitals in Eastern Denmark.
Front Genet
August 2025
Federal Medical and Biologicl Agency, Moscow, Russia.
Background: Familial hypercholesterolemia (FH) is a prevalent hereditary disorder, with its monogenic form linked to an elevated risk of early-onset ischemic heart disease. Evaluating the prevalence and penetrance of pathogenic and likely pathogenic variants associated with this disorder would provide valuable information supporting routine FH screening of the general population. Such informed screening would facilitate early identification of at-risk individuals, enabling timely intervention and management.
View Article and Find Full Text PDFBMC Neurol
September 2025
Department of Neurology, University Hospital, RWTH Aachen University, Pauwelsstrasse 30, Aachen, North Rhine-Westphalia, Germany.
Background: Cerebellar pathologies in adults can have a wide range of hereditary, acquired and sporadic-degenerative causes. Due to the frequency in daily hospital, especially intensive care, settings, electrolyte imbalances are an important, yet rare differential diagnosis. The hypomagnesemia-induced cerebellar syndrome (HiCS) constitutes a relevant disease entity with clinical and morphological variability due to a potential progression of symptoms and a promising causal treatment.
View Article and Find Full Text PDFEMBO Mol Med
September 2025
Institute for Regenerative Medicine, Medical Innovation Center and State Key Laboratory of Cardiovascular Diseases, Shanghai East Hospital, National Stem Cell Translational Resource Center & Ministry of Education Stem Cell Resource Center, Frontier Science Center for Stem Cell Research, School of Li
Primary microcephaly, a rare congenital condition characterized by reduced brain size, occurs due to impaired neurogenesis during brain development. Through whole-exome sequencing, we identified compound heterozygous loss-of-function mutations in CENTRIN 3 (CETN3) in a 5-year-old patient with primary microcephaly. As CETN3 has not been previously linked to microcephaly, we investigated its potential function in neurodevelopment in human pluripotent stem cell-derived cerebral organoids.
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