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Background In Colombia and worldwide, breast cancer (BC) is the most frequently diagnosed neoplasia and the leading cause of death from cancer among women. Studies predominantly involve hereditary and familial cases, demonstrating a gap in the literature regarding the identification of germline mutations in unselected patients from Latin-America. Identification of pathogenic/likely pathogenic (P/LP) variants is important for shaping national genetic analysis policies, genetic counseling, and early detection strategies. The present study included 400 women with unselected breast cancer (BC), in whom we analyzed ten genes, using Whole Exome Sequencing (WES), know to confer risk for BC, with the aim of determining the genomic profile of previously unreported P/LP variants in the affected population. Additionally, Multiplex Ligation-dependent Probe Amplification (MLPA) was performed to identify Large Genomic Rearrangements (LGRs) in the BRCA1/2 genes. To ascertain the functional impact of a recurrent intronic variant ( ATM c.5496 + 2_5496 + 5delTAAG), a minigene assay was conducted. Results We ascertained the frequency of P/LP germline variants in BRCA2 (2.5%) , ATM (1.25%) , BRCA1 (0.75%), PALB2 (0.50%), CHEK2 (0.50%), BARD1 (0.25%) , and RAD51D (0.25%) genes in the population of study. P/LP variants account for 6% of the total population analyzed. No LGRs were detected in our study. We identified 1.75% of recurrent variants in BRCA2 and ATM genes. One of them corresponds to the ATM c.5496 + 2_5496 + 5delTAAG. Functional validation of this variant demonstrated a splicing alteration probably modifying the Pincer domain and subsequent protein structure. Conclusion This study described for the first time the genomic profile of ten risk genes in Colombian women with unselected BC. Our findings underscore the significance of population-based research, advocating the consideration of molecular testing in all women with cancer.

Although adult T-cell leukemia/lymphoma (ATL) has a higher burden in Latin America compared to North American or European countries, few studies have described the outcomes of this disease. We estimated the hospital-based prevalence and overall survival (OS) of ATL. We conducted a cohort study among patients aged ≥ 18 years with pathologically diagnosed mature T-cell lymphoma across 11 Latin American countries from 2000 to 2023 by pooling data from 3 hospital-based registries. We used the Kaplan-Meier method to estimate survival outcomes. Among 1963 patients with mature T-cell lymphoma, the pooled prevalence of ATL was 17 % (n = 329; 95 % confidence interval [CI]=15–18 %), with the highest observed in Peru (n = 158; 38 %, 95 % CI=33–43 %) and Colombia (n = 17; 29 %, 95 % CI=18–41 %). Over time, ATL cases only increased significantly in Peru, from 14 % in 2000–2004 to 58 % in 2019–2023 (Ptrend<0.001). With a median follow-up of 37 months (95 % CI=30–54 months), the 3-year OS of ATL was 25 % (95 % CI=20–32 %), and the median OS was 9 months (95 % CI=8–12 months). OS did not differ across countries (range 19–47 %, P = 0.210). Patients with lymphomatous ATL had worse outcomes than those with PTCL-NOS only in Peru (Pheterogeneity=0.029). Our findings indicate a higher ATL prevalence in Latin America than previously reported in North America or Europe, likely due to differences in HTLV-1 endemicity and diagnostic practices. The similar and poor survival rates across countries underscore the need for targeted interventions to improve patient outcomes. We propose expert-based research priorities and suggest further epidemiological validation studies. •ATL prevalence in Latin America is likely higher than in other regions.•Survival rates for ATL patients remain poor across countries.•Lack of HTLV screening may lead to misdiagnosis of ATL as PTCL-NOS.•Population- based validation studies and expert-based research priorities and are needed to improve outcomes•Collaborative capacity-building will accelerate discovery and enhance ATL-related health outcomes globally

There is a limited information available on the clinical characteristics, treatment patterns and outcomes on older patients diagnosed with Acute Myeloid Leukemia (AML) in Latin-America. This multicenter retrospective study analyzed 269 patients over 60 years of age diagnosed with AML in Colombia, using data from RENEHOC-PETHEMA registry, from 2009 to 2023. The median age at diagnosis was 70 years (Range:60–98), 55% were men, 61% had an ECOG < 2, and 75.5% had de novo AML. FLT3-ITD or NPM1 mutations were performed in 23.4% and 15.6% patients, and detected in 14.3% and 16.7% of cases, respectively. Treatment included intensive chemotherapy (IC) (36.8%), Low-Intensity Regimen Based on Low-Dose Cytarabine (LDAC-based) (12.6%), hypomethylating agents (HMAs, with/without venetoclax) (35.3%), and supportive care (15.2%). The overall survival (OS) rate was 35.2% at 1 year and 5.6% at 5 years (13.7% for IC, 9.4% for LDAC-based, and 0% for other treatments); with median OS of 8.2 months (10.6 months after IC, 8.8 months after non-IC, 8.9 months after azacitidine/decitabine, 8.2 months after azacitidine-venetoclax, and 1.9 months with supportive care). Only 1.5% of patients underwent a transplant in the first line. The Leukemia-free survival (LFS) rate was 45.8% at 1-year and 13.7% at 5-years (22.4% for IC, 9.4% and 0% for other treatments); with median LFS of 9.5 months (17.3 months after IC, 7.4 months after LDAC-based, and 10.8 months after HMA). This study provides new insights into the management of patients in Colombia, highlighting the need for a highly individualized approach in treating AML in elderly patients.

El presente consenso de expertos basándose en la evidencia disponible sobre el tratamiento de los desórdenes linfoproliferativos y la pandemia COVID-19. Presentamos las recomendaciones que se consideran urgentes para el manejo de pacientes con Linfomas en estado de pandemia por SARS-CoV/COVID19 unificando criterios en toda Latinoamérica.

Vowels make a strong contribution to speech perception under natural conditions. Vowels are encoded in the auditory nerve primarily through neural synchrony to temporal fine structure and to envelope fluctuations rather than through average discharge rate. Neural synchrony is thought to contribute less to vowel coding in central auditory nuclei, consistent with more limited synchronization to fine structure and the emergence of average-rate coding of envelope fluctuations. However, this hypothesis is largely unexplored, especially in background noise. The present study examined coding mechanisms at the level of the midbrain that support behavioral sensitivity to simple vowel-like sounds using neurophysiological recordings and matched behavioral experiments in the budgerigar. Stimuli were harmonic tone complexes with energy concentrated at one spectral peak, or formant frequency, presented in quiet and in noise. Behavioral thresholds for formant-frequency discrimination decreased with increasing amplitude of stimulus envelope fluctuations, increased in noise, and were similar between budgerigars and humans. Multiunit recordings in awake birds showed that the midbrain encodes vowel-like sounds both through response synchrony to envelope structure and through average rate. Whereas neural discrimination thresholds based on either coding scheme were sufficient to support behavioral thresholds in quiet, only synchrony-based neural thresholds could account for behavioral thresholds in background noise. These results reveal an incomplete transformation to average-rate coding of vowel-like sounds in the midbrain. Model simulations suggest that this transformation emerges due to modulation tuning, which is shared between birds and mammals. Furthermore, the results underscore the behavioral relevance of envelope synchrony in the midbrain for detection of small differences in vowel formant frequency under real-world listening conditions.