A5050020925- Chromosomal and Genetic Variations
- DNA Repair Mechanisms
- Cell Adhesion Molecules Research
- CRISPR and Genetic Engineering
- Platelet Disorders and Treatments
- Congenital Ear and Nasal Anomalies
- Creativity in Education and Neuroscience
- Cystic Fibrosis Research Advances
- Caveolin-1 and cellular processes
- Galectins and Cancer Biology
- Genomic variations and chromosomal abnormalities
- Structural Analysis of Composite Materials
- Pineapple and bromelain studies
- Neonatal Respiratory Health Research
Hospital de Sant Pau
2023-2024
Institut de Recerca Sant Pau
2024
Goethe University Frankfurt
2024
University of Trieste
2021-2023
Universitat Autònoma de Barcelona
2021-2023
Bromelain is a complex mixture of thiol proteases and other non-proteolytic constituents, commercially extracted primarily from the pineapple stem. Evidence several in vitro vivo studies highlights its excellent bioavailability, lack side effects, broad spectrum medical efficacies, which antiphlogistic properties are among most valuable ones. has indeed been employed for efficient treatment many inflammatory disorders, ranging osteoarthritis bowel diseases to cancer-related inflammation.The...
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Introduction: Fanconi anemia (FA) is a genome instability condition that drives somatic mosaicism in up to 25% of all patients, phenomenon now acknowledged as good prognostic factor. Herein, we describe the case P1, FA proband carrying splicing variant, molecularly compensated by de novo insertion. Methods and Results: Targeted next-generation sequencing on P1’s peripheral blood DNA detected known FANCA c.2778 + 83C > G intronic mutation suggested presence large deletion other allele,...
Abstract Background Despite consolidated guidelines, the clinical diagnosis and prognosis of cystic fibrosis (CF) is still challenging mainly because extensive phenotypic heterogeneity high number CFTR variants, including their combinations as complex alleles. Results We report a family with complicated syndromic phenotype, which led to suspicion not only CF, but dominantly inherited skeletal dysplasia (SD). Whereas molecular basis SD was clarified, segregation analysis central make correct...
Abstract Fanconi anemia (FA) is a rare genetic disease characterized by high phenotypic and genotypic heterogeneity, extreme chromosome fragility. To better understand the natural history of FA, identify risk prognostic factors, develop novel therapeutic strategies, Spanish Registry Patients with FA collects data on clinical features, fragility, subtypes, DNA sequencing informed consent participating individuals. In this article, we describe evolution 227 patients followed up for to 30...
Somatic mosaicism appears as a recurrent phenomenon among patients suffering from Fanconi anemia (FA), but its direct prognostic significance mostly remains an open question. The clinical picture of FA mosaic subjects could indeed vary just mild features to severe hematologic failure. Here, we illustrate the case proband whose familiarity, modest signs (absence hematological anomalies and fertility issues), chromosome fragility test transition negative overtime were suggestive somatic...
Objective The GNE gene encodes a kinase with key role in sialic acid biosynthesis and its mutations are classically linked to sialuria myopathy. Nevertheless, few recent cases, variants have been associated inherited thrombocytopenia (IT) both without muscle weakness. Herein, we present two young probands (P1, P2) of unrelated consanguineous couples significant platelet count reduction no myopathy signs hitherto, aiming disclose the molecular causes underlying disease.