Publications by authors named "Montardi C"
PUPAID is a workflow written in R + ImageJ languages which is dedicated to the semi-automated processing and analysis of multi-channel immunofluorescence data. The workflow is designed to extract fluorescence signals within automatically-segmented cells, defined here as Areas of Interest (AOI), on whole multi-layer slides (or eventually cropped sections of them), defined here as Regions of Interest (ROI), in a simple and understandable yet thorough manner. The included (but facultative) R Shiny-based interactive application makes PUPAID also suitable for scientists who are not fluent with R programming.
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- Fabry disease results from a deficiency in the enzyme alpha-galactosidase A, leading to a buildup of glycosphingolipids and causing various health issues, including neurologic symptoms like neuropathic pain and strokes, with aseptic meningitis being a potential complication.
- A study reviewed patients from 1995 to 2023, finding that 3.7% experienced aseptic meningitis, with additional data from published cases leading to a total of 29 patients analyzed, predominantly young adults.
- The findings indicate that many of these patients were unaware they had Fabry disease before their meningitis episode, and the underlying causes of the inflammation in these cases are still not fully understood.
Inborn metabolic diseases or inborn errors of metabolism comprise a large number of rare and heterogeneous genetic diseases categorized in several subgroups depending on their pathophysiologic mechanisms. In this review, we focus on different metabolic diseases with respiratory symptoms in adults: lysosomal glycosphingolipidoses such as acid sphingomyelinase deficiency (Niemann-Pick types A and B disease), Gaucher, Fabry, Pompe diseases and mucopolysaccharidoses in general. We also address classical homocystinuria, which is a monogenic vascular disease, Hermansky-Pudlak syndrome, which is associated with disorders in the lysosomal-related-organelles, and lysinuric protein intolerance, which is due to an amino-acid transporter defect.
View Article and Find Full Text PDFIntroduction: Patients with psychiatric disorders suffer from a higher rate of somatic disorders than those without psychiatric disorder, often inappropriately managed. Our study aimed to describe patients with psychiatric comorbidity in post-emergency internal medicine units and to compare their length of hospital stay to patients without psychiatric disease.
Methods: This French cross sectional study used the data warehouse of the greater Paris hospitals.