Características citogenéticas y detección de anormalidades de alto riesgo en mieloma múltiple / High risk cytogenetic abnormalities in patients with multiple myeloma

Background: Cytogenetic abnormalities observed in the bone marrow of patients with multiple myeloma (MM) are an important prognostic factor for risk stratification. Aim: To investigate karyotype characteristics and frequency of the high-risk cytogenetic abnormalities t(4;14), t(14;16) and del(17p) in Chilean patients with MM. Material and Methods: We studied 30 patients with MM by conventional cytogenetics (CC) and fluorescent in situ hybridization of plasma cells selected using cytoplasmic immunoglobulin staining (cIg-FISH). Results: Overall, the two techniques in combination allowed us to identify clonal genetic abnormalities in 47% of patients. The t(4;14) abnormality was observed in 19% of patients, del(17p) was observed in 10% of patients, and t(14;16) was not detected. Conclusions: Our results showed frequencies of high-risk abnormalities similar to those reported abroad. Cytogenetic studies should be performed routinely for all MM patients at the moment of diagnosis.

Microarreglos cromosómicos en 236 pacientes chilenos con trastornos del neurodesarrollo y anomalías congénitas / Microarrays in 236 patients with neurodevelopmental disorders and congenital abnormalities

Background: In 20% of neurodevelopmental disorders (NDD) and congenital abnormalities (CA) the cause would be a genomic imbalance detectable only by chromosomal microarrays (CMA). Aim: To analyze the results of CMA performed at the INTA Laboratory of Molecular Cytogenetics, during a period of four years in patients with NDD or CA. Material and Methods: Retrospective study that included all CMA reports of Chilean patients. Age, sex, clinical diagnosis and origin were analyzed, as well as the characteristics of the finding. The percentage of cases diagnosed by CMA was calculated considering all patients with pathogenic (PV) or probably pathogenic variants (VLP). Finally, we studied the association between patients' characteristics and a positive CMA outcome. Results: A total of 236 reports were analyzed. The median age was 5.41 (range 2.25-9.33) years, and 59% were men. Ninety chromosomal imbalances were found, which corresponded mainly to deletions (53.3%), with a median size of 1.662 (range 0.553-6.673) Megabases. The diagnostic rate of CMA in Chilean patients from all over the country was 19.2%. There was a close relationship between the patient's sex and the detection of VLP/VP (p = 0.034). Conclusions: Our diagnostic rate and the association between female sex and a higher percentage of diagnosed cases are concordant with other international studies. Therefore, CMA is a valid diagnostic tool in the Chilean population.

Modelling of the biofiltration of reduced sulphur compounds through biotrickling filters connected in series: effect of H2S

Background: The behaviour of two biotrickling filters connected in serie (BTF) inoculated with Acidithiobacillus thiooxidans and Thiobacillus thioparus, biodegrading hydrogen sulphide (H2S) and dimethyl sulphide (DMS) simultaneously were studied. A model which considers gas to liquid mass transfer and biooxidation in the biofilm attached to the support is developed. Additionally, a fixed bed biotrickling filter where the microorganism is immobilized in a biofilm which degrades a mixture of H2S and DMS is implemented. Validation of the model was carried out using experimental data obtained at different H2S and DMS loads. Results: The inhibitory effect caused by the presence of H2S on the DMS is observed, which is evidenced by the decrease of the DMS removal efficiency from 80 to 27 percent, due to the preference that T. thioparus has by simple metabolism. H2S is not affected by the DMS, with removal efficiencies of 95 to 97 percent, but it decreases at high concentrations of the compound, due to the inhibition of metabolism by high H2S input loads. The model which describes the BFT fits successfully with the experimental results and it has a high sensitivity to inhibition parameters. Conclusion: It is shown that the microorganism has a high affinity for H2S, producing substrate inhibition when the concentration is high. The H2S is able to inhibit the DMS biooxidation, whereas the DMS does not affect the H2S biooxidation.