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Background Cystinosis is a rare autosomal recessive disorder caused by intracellular cystine accumulation. Proximal tubulopathy (Fanconi syndrome) is one of the first signs, leading to end-stage renal disease between the age of 12 and 16. Other symptoms occur later and encompass endocrinopathies, distal myopathy and deterioration of the central nervous system. Treatment with cysteamine if started early can delay the progression of the disease. Little is known about the neurological impairment which occurs later. The goal of the present study was to find a possible neuroanatomical dysmorphic pattern that could help to explain the cognitive profile of cystinosis patients. We also performed a detailed review of the literature on neurocognitive complications associated with cystinosis. Methods 17 patients (mean age = 17.6 years, [5.4–33.3]) with cystinosis were included in the study. Neuropsychological assessment was performed including intelligence (Intelligence Quotient (IQ) with Wechsler’s scale), memory (Children Memory Scale and Wechsler Memory Scale), visuo-spatial (Rey’s figure test) and visuo-perceptual skills assessments. Structural brain MRI (3 T) was also performed in 16 out of 17 patients, with high resolution 3D T1-weighted, 3D FLAIR and spectroscopy sequences. Results Intellectual efficiency was normal in patients with cystinosis (mean Total IQ = 93). However the Perceptual Reasoning Index (mean = 87, [63–109]) was significantly lower than the Verbal Comprehension Index (mean = 100, [59–138], p = 0.003). Memory assessment showed no difference between visual and verbal memory. But the working memory was significantly impaired in comparison with the general memory skills (p = 0.003). Visuospatial skills assessment revealed copy and reproduction scores below the 50th percentile rank in more than 70% of the patients. Brain MRI showed cortical and sub-cortical cerebral atrophy, especially in the parieto-occipital region and FLAIR hypersignals in parietal, occipital and brain stem/cerebellum. Patients with atrophic brain had lower Total IQ scores compared to non-atrophic cystinosis patients. Conclusions Patients with cystinosis have a specific neuropsychological and neuroanatomical profile. We suggest performing a systematic neuropsychological assessment in such children aiming at considering adequate management.

The COVID-19 vaccination efficacy depends on serum production level of the neutralizing IgG antibody (NA) specific to the receptor binding domain of SARS-Cov-2 spike protein. Therefore, a high-throughput rapid assay to measure the total SARS-CoV-2 NA level is urgently needed for COVID-19 serodiagnosis, convalescent plasma therapy, vaccine development, and assessment. Here, we developed a nanoplasmonic immunosorbent assay (NanoPISA) platform for one-step rapid quantification of SARS-CoV-2 NAs in clinical serum samples for high-throughput evaluation of COVID-19 vaccine effectiveness. The NanoPISA platform enhanced by the use of nanoporous hollow gold nanoparticle coupling was able to detect SARS-CoV-2 NAs with a limit of detection of 0.1 ng/mL within 15 min. The one-step NanoPISA for SARS-CoV-2 NA detection in clinical specimens yielded good results, comparable to those obtained in the gold standard seroneutralization test and the surrogate virus neutralizing ELISA. Collectively, our findings indicate that the one-step NanoPISA may offer a rapid and high-throughput NA quantification platform for evaluating the effectiveness of COVID-19 vaccines.

Children and young people are seen as fundamental to the design and delivery of clinical research as active and reflective participants. In Europe, involvement of children and young people in clinical research is promoted extensively in order to engage young people in research as partners and to give them a voice to raise their own issues or opinions and for their involvement in planning and decision making in addition to learning research skills. Children and young people can be trained in clinical research through participation in young person advisory groups (YPAGs). Members of YPAGs assist other children and young people to learn about clinical research and share their experience and point of view with researchers, thereby possibly influencing all phases of research including the development and prioritization of research questions, design and methods, recruitment plans, and strategies for results dissemination. In the long term, the expansion of YPAGs in Europe will serve as a driving force for refining pediatric clinical research. It will help in a better definition of research projects according to the patients' needs. Furthermore, direct engagement of children and young people in research will be favorable to both researchers and young people.

The first objective of our study was to analyse whether biomarkers for genotoxic effects (DNA breaks and alkali-labile sites and micronucleus and non-disjunction frequencies) could be fully validated for biomonitoring workers chronically exposed to ionizing radiation (IR). Blood samples of controls and individuals chronically exposed to IR were analysed. The interindividual variation was reduced when the comet data were adjusted for interexperimental variation, but remained statistically significant. No differences were found between groups, either for smoking or for exposure status. The second objective was to determine whether the Comet assay can be used to evaluate global repair phenotype as a susceptibility biomarker for IR-induced DNA damage in nuclear workers. A pilot study was performed and blood from workers exposed or not to radiation was submitted to a challenging dose of gamma-rays. The repair kinetics of each individual donor were analysed by Comet assay at different time points and compared with the frequencies of biomarkers of genotoxic effects. There was a statistically significant interaction between biomarkers assessing the same damage (micronucleus and Comet assays). Multivariate analysis showed that micronucleus frequencies were positively influenced by age and the percentage of residual tail length was negatively influenced by the interaction between smoking and exposure status. The general conclusions from our study are: (i) a positive correlation exists between mechanistically related biomarkers; (ii) multivariate regression analysis confirmed that the interaction between smoking and exposure to IR negatively and statistically significantly influenced residual tail length; (iii) use of the Comet assay for the estimation of global repair phenotype with respect to IR is recommended because it is simple, fast and differences in in vitro repair capacity can be detected.