Microarray-based comparative genomic hybridization (aCGH) between basic research and clinical diagnostic

In the vast spectrum of human pathology, a significant proportion is represented by genetic disorders. To elucidate the mechanisms leading to disease, various approaches have been used: G-banded karyotyping and FISH allow the survey of the entire genome for large aberrations or analysis of pre-defined segments, while sequencing detects nucleotide alterations with the prior requirement of knowing which DNA segment to address. The last two decades have seen the rise of another generation of investigative methods, such as aCGH, which inquire the condition of the whole genome at sequence level; starting as a research instrument, aCGH is increasingly regarded as a powerful diagnostic tool for clinical use. As an example of its utility in the diagnostic of mental retardation, we present three cases where aCGH contributed to the identification and refinement of the precise genetic aberrations

Genetic testing in myelodysplastic syndromes contribution in diagnosis, prognostic and clinical management

Myelodysplastic syndromes (MDS) represent a group of clonal hematological malignancies characterized by ineffective hematopoiesis. Other hematological disorders associating dysplastic features are grouped under the myelodysplastic/ myeloproliferative neoplasms (MDS/MPN) category. The great diversity of the acquired chromosomal abnormalities described in MDS highlights the molecular heterogeneity of these diseases. We report on 12 MDS and 3 MDS/MPN patients investigated by cytogenetic and molecular techniques (FISH). The most frequent chromosomal anomalies were 5q deletion and trisomy 8. Other trisomies, deletions and new translocations were also detected. MDS and MDS/MPN stand as challenging entities in hemato-oncology due to their heterogeneity. Thus, genetic testing provides important means for diagnosis confirmation and offers further insight into the prognosis and management of these patients

Exploring the Role of Interleukin-6 Receptor Inhibitor Tocilizumab in Patients with Active Rheumatoid Arthritis and Periodontal Disease

Background: The aim of our study was to explore the influence of weekly subcutaneous administration of interleukin-6 (IL-6) receptor inhibitor tocilizumab (TCZ) on periodontal status in a local longitudinal study of patients with rheumatoid arthritis (RA) and periodontal disease (PD). Methods: We performed a 6-month prospective study in 51 patients with chronic periodontitis and moderate-to-severe RA starting TCZ in accordance with local recommendations. Extensive rheumatologic (clinical activity, inflammatory, serological biomarkers) and periodontal (visible plaque index, gingival index, bleeding on probing, probing pocket depth, clinical attachment loss) assessments were done. Changes in RA activity and periodontal status were reassessed after 3 and 6 months. Results: We demonstrated significant correlations between periodontal status, disease activity, and serologic biomarkers (p < 0.05). Tocilizumab significantly improved the gingival index scores and decreased the number of sites with bleeding on probing after only 3 months (p < 0.05), while the probing pocket depth significantly decreased after 6 months; overall, clinical attachment loss presented only slight changes without any statistical significance as well as teeth count and plaque levels (p > 0.05). Conclusion: IL-6 inhibition is able to improve periodontal outcomes in patients with RA and concomitant PD, which is essentially related to a dramatic decrease in serum inflammatory mediators