An unusual T-cell childhood acute lymphoblastic leukemia harboring a yet unreported near-tetraploid karyotype

<p>Abstract</p> <p>Background</p> <p>Near-tetraploid (model #81-103) and near-triploid (model #67-81) karyotypes are found in around 1% of childhood acute lymphoblastic leukemia. Due to its rarity, these two cytogenetic subgroups are generally included in the hyperdiploid group (model # > 51). Therefore separate informations about these two subgroups are limited to a few reports. Some studies found that near-tetraploidy is relatively more frequent in higher median ages and it is associated to Frech-American-British Classification subtype L2. Although the mechanisms by which leukemic blast cells divide is still unclear, studies have suggested that hyperdiploidy, near-triploidy and near-tetraploidy do not seem to share the same mechanism.</p> <p>Findings</p> <p>Herewith, we present a new childhood T-acute lymphoblastic leukemia case of near-tetraploid karyotype with loss of two p53-gene copies, characterized in detail by cytogenetic and molecular studies.</p> <p>Conclusion</p> <p>We suggest that p53 is a good target gene to be screened, once p53 is one of the main effectors of cell cycle checkpoints.</p

Exome and Tissue-Associated Microbiota as Predictive Markers of Response to Neoadjuvant Treatment in Locally Advanced Rectal Cancer

The clinical and pathological responses to multimodal neoadjuvant therapy in locally advanced rectal cancers (LARCs) remain unpredictable, and robust biomarkers are still lacking. Recent studies have shown that tumors present somatic molecular alterations related to better treatment response, and it is also clear that tumor-associated bacteria are modulators of chemotherapy and immunotherapy efficacy, therefore having implications for long-term survivorship and a good potential as the biomarkers of outcome. Here, we performed whole exome sequencing and 16S ribosomal RNA (rRNA) amplicon sequencing from 44 pre-treatment LARC biopsies from Argentinian and Brazilian patients, treated with neoadjuvant chemoradiotherapy or total neoadjuvant treatment, searching for predictive biomarkers of response (responders, n = 17; non-responders, n = 27). In general, the somatic landscape of LARC was not capable to predict a response; however, a significant enrichment in mutational signature SBS5 was observed in non-responders (p = 0.0021), as well as the co-occurrence of APC and FAT4 mutations (p < 0.05). Microbiota studies revealed a similar alpha and beta diversity of bacteria between response groups. Yet, the linear discriminant analysis (LDA) of effect size indicated an enrichment of Hungatella, Flavonifractor, and Methanosphaera (LDA score ≥3) in the pre-treatment biopsies of responders, while non-responders had a higher abundance of Enhydrobacter, Paraprevotella (LDA score ≥3) and Finegoldia (LDA score ≥4). Altogether, the evaluation of these biomarkers in pre-treatment biopsies could eventually predict a neoadjuvant treatment response, while in post-treatment samples, it could help in guiding non-operative treatment strategies.Fil: Takenaka, Isabella Kuniko T. M.. No especifíca;Fil: Bartelli, Thais F.. No especifíca;Fil: Defelicibus, Alexandre. No especifíca;Fil: Sendoya, Juan Martín. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones Bioquímicas de Buenos Aires. Fundación Instituto Leloir. Instituto de Investigaciones Bioquímicas de Buenos Aires; ArgentinaFil: Golubicki, Mariano. Gobierno de la Ciudad de Buenos Aires. Hospital de Gastroenterología "Dr. Carlos B. Udaondo"; ArgentinaFil: Robbio, Juan. No especifíca;Fil: Serpa, Marianna S.. No especifíca;Fil: Branco, Gabriela P.. No especifíca;Fil: Santos, Luana B. C.. No especifíca;Fil: Claro, Laura C. L.. No especifíca;Fil: Oliveira dos Santos, Gabriel. No especifíca;Fil: Kupper, Bruna E. C.. No especifíca;Fil: da Silva, Israel T.. No especifíca;Fil: Llera, Andrea Sabina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones Bioquímicas de Buenos Aires. Fundación Instituto Leloir. Instituto de Investigaciones Bioquímicas de Buenos Aires; ArgentinaFil: de Mello, Celso A. L.. No especifíca;Fil: Riechelmann, Rachel P.. No especifíca;Fil: Dias Neto, Emmanuel. Universidade de Sao Paulo; BrasilFil: Iseas, Soledad. Gobierno de la Ciudad de Buenos Aires. Hospital de Gastroenterología "Dr. Carlos B. Udaondo"; ArgentinaFil: Aguiar, Samuel. No especifíca;Fil: Nunes, Diana Noronha. No especifíca

Genomics and epidemiology of the P.1 SARS-CoV-2 lineage in Manaus, Brazil

Cases of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in Manaus, Brazil, resurged in late 2020 despite previously high levels of infection. Genome sequencing of viruses sampled in Manaus between November 2020 and January 2021 revealed the emergence and circulation of a novel SARS-CoV-2 variant of concern. Lineage P.1 acquired 17 mutations, including a trio in the spike protein (K417T, E484K, and N501Y) associated with increased binding to the human ACE2 (angiotensin-converting enzyme 2) receptor. Molecular clock analysis shows that P.1 emergence occurred around mid-November 2020 and was preceded by a period of faster molecular evolution. Using a two-category dynamical model that integrates genomic and mortality data, we estimate that P.1 may be 1.7- to 2.4-fold more transmissible and that previous (non-P.1) infection provides 54 to 79% of the protection against infection with P.1 that it provides against non-P.1 lineages. Enhanced global genomic surveillance of variants of concern, which may exhibit increased transmissibility and/or immune evasion, is critical to accelerate pandemic responsiveness

Generation of Volatile Compounds from Carotenoids of Dunaliella bardawil

The volatile compounds formed by thermal degradation of the carotenoids present in Dunaliella bardawil were investigated by microwave irradiation (MW) and water bath heating (WB) in different conditions of temperature and time using central composite design. Volatiles extraction by solid phase microextraction (SPME) was optimized and performed at 40 °C for 15 minutes, and those in greater amount were quantified by a validated method of gas chromatography coupled to a quadrupole mass spectrometer (GC-qMS). Employing WB, 10, 12 and 120 ng mL-1 of &#946;-cyclocitral, &#945;-ionone e &#946;-ionone, respectively, were obtained between 60 and 87 °C for 30-75 min, while by MW, 5, 5, 50 ng mL-1 were obtained between 75-107 °C for 1.5-2.8 min. Considering the shorter time of MW, it can be concluded that if the time necessary to obtain the best yield by WB is employed in multiple MW cycles, an amount 10 times greater of those compounds would be obtained by MW than by WB. The results suggest a new biotechnology application for the carotenoids of the microalgae of the Dunaliella genus

Contrasting patterns of foraging behavior in neotropical stingless bees using pollen and honey metabarcoding

Abstract Stingless bees are major flower visitors in the tropics, but their foraging preferences and behavior are still poorly understood. Studying stingless bee interactions with angiosperms is methodologically challenging due to the high tropical plant diversity and inaccessibility of upper canopy flowers in forested habitats. Pollen DNA metabarcoding offers an opportunity of assessing floral visitation efficiently and was applied here to understand stingless bee floral resources spectra and foraging behavior. We analyzed pollen and honey from nests of three distantly related stingless bee species, with different body size and social behavior: Melipona rufiventris, Scaptotrigona postica and Tetragonisca angustula. Simultaneously, we evaluate the local floristic components through seventeen rapid botanical surveys conducted at different distances from the nests. We discovered a broad set of explored floral sources, with 46.3 plant species per bee species in honey samples and 53.67 in pollen samples. Plant families Myrtaceae, Asteraceae, Euphorbiaceae, Melastomataceae and Malpighiaceae dominated the records, indicating stingless bee preferences for abundant resources that flowers of these families provide in the region. Results also reinforce the preference of stingless bees for forest trees, even if only available at long distances. Our high-resolution results encourage future bee-plant studies using pollen and honey metabarcoding in hyper-diverse tropical environments

Leishmaniose tegumentar americana: flebotomíneos de área de transmissão no Norte do Paraná, Brasil American cutaneous leishmaniasis: phlebotominae of the area of transmission in the North of Parana, Brazil

Dos casos de leishmaniose tegumentar diagnosticados no Laboratório de Ensino e Pesquisa de Análises Clínicas da Universidade Estadual de Maringá-PR (Brasil), a maioria está relacionada a áreas, no Norte do Paraná, que vem sendo ocupadas desde a década de 1940, quando se iniciou extenso desmatamento naquela Região. A vegetação nativa, já em grande parte destruída, é constituída por mata densa do tipo tropical de transição para subtropical. A paisagem no seu conjunto é de planalto, com clima tropical de transição para subtropical, temperaturas médias anuais entre 20&deg;C e 22&deg;C e média do mês mais quente superior a 22&deg;C. Das florestas nativas restam poucas e esparsas manchas de vegetação, geralmente modificadas, ao longo das bacias dos rios Ivaí, Paranapanema e Paraná, e seus afluentes. Neste ambiente foram feitas 24 capturas de flebotomíneos, 2 por mês, de outubro de 1986 a setembro de 1987, das 18 horas à l hora do dia seguinte. As capturas, com armadilhas de Shannon, foram realizadas às margens de mata modificada, tendo sido classificados 16.496 flebotomíneos, pertencentes na sua quase totalidade a 13 espécies. Observou-se prevalência de Lutzomyia whitmani com 11.188 (67,82%) exemplares, seguido por Lutzomyia intermedia com 2.900 (17,58%) e Lutzomyia migonei com 1.491 (9,03%). Lutzomyia whitmani e Lutzomyia intermedia vêm mostrando grande capacidade de adaptação nos ambientes antrópicos, onde têm destacado papel na transmissão de leishmaniose.<br>Most of the cases of cutaneous leishmaniasis diagnosed in the laboratory of the State University of Maringá, Paraná, Brazil, are related to areas of northern Paraná State, which have been settled since 40 years age, when the destructions of vast areas of forest in this region was begun. The native vegetation, already, in large part, destroyed is constituted of dense forest of the type found in the transition from tropical to subtropical regions. The landscape is constituted of plateau with a climate of transition from tropical to subtropical and annual mean temperatures of 20&deg;C to 22&deg;C, the mean of the hottest month being superior to 22&deg;C. The native forests are represented by small, sparse patches of vegetation, with some modification in the basins of the rivers Ivaí, Paranapanema and Paraná and their tributaries. In this environment 24 captures of phlebotomines were made - 2 per month from October 1986 to September 1987, between 6 P.M. and 1 A.M. The captures with Shannon trap were made in the outlying forest of Palmital farm. The majority of the 16,496 phlebotomines were classified into 13 species. Lutzomyia whitmani was predominant with 11,188 (67.82%) specimens, followed by Lutzomyia intermedia with 2,900 (17.58%) and Lutzomyia migonei with 1,481 (9.03%). Lutzomyia whitmani and Lutzomyia intermedia have been manifesting great capacity of adaptation in modified environments, where they have played a significant role in transmission of leishmaniasis