Article
Pathology
Anya K. Hotinski, Oliver G. Best, Bryone J. Kuss
Summary: Chronic lymphocytic leukaemia (CLL) is a clonally complex disease with high intra-tumoural and inter-patient heterogeneity, requiring accurate prognostic tests. The emergence of new targeted agents in recent years has also created a need for improved predictive tests in therapy.
Article
Oncology
Shenmiao Yang, Abraham M. Varghese, Nitin Sood, Carlos Chiattone, Norah O. Akinola, Xiaojun Huang, Robert Peter Gale
Summary: East Asians, Asian Indians, and Amerindians have a significantly lower incidence rate of chronic lymphocytic leukemia compared to persons of European descent, suggesting a genetic rather than environmental basis for this disparity. These populations have different genetic admixtures with archaic hominins, potentially explaining the varying CLL incidences among them, as well as differences in clinical and molecular covariates of CLL. Further research is needed to determine the exact reasons behind these population variances in CLL and other lymphomas and cancers.
Article
Hematology
Anna Petrackova, Jakub Savara, Peter Turcsanyi, Petr Gajdos, Tomas Papajik, Eva Kriegova
Summary: Germline pathogenic ATM variants are associated with the risk and progression of chronic lymphocytic leukemia (CLL) patients. Most of these variants are pathogenic or predicted to be pathogenic, while a small number are benign. Patients with these pathogenic or predicted pathogenic ATM variants are more likely to develop the disease through gene inactivation, similar to patients with somatic ATM variants. Additionally, these variants are associated with reduced progression-free survival in CLL patients, comparable to the effects of ATM or TP53 gene disruptions.
BRITISH JOURNAL OF HAEMATOLOGY
(2022)
Review
Medicine, General & Internal
Shenmiao Yang, Xiaojun Huang, Robert Peter Gale
Summary: Transplantation has been used to treat chronic lymphocytic leukemia for over 35 years, but is only considered for less than 1% of highly selected patients. While some patients may achieve long-term leukemia-free survival with transplants, they also come with significant morbidity and mortality. The anti-leukemia effects of transplants are influenced by various factors, including drugs, radiation, and immune mechanisms.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Genetics & Heredity
Qiuyi Zhang, Ying Gao, Shuchun Lin, Lynn R. Goldin, Yonghong Wang, Holly Stevenson, Daniel C. Edelman, Keith Killian, Gerald Marti, Paul S. Meltzer, Song Xiang, Neil E. Caporaso
Summary: This study investigated the DNA methylation aberrations in malignant B lymphocytes of CLL patients and identified differentially methylated positions (DMPs) and differentially methylated and expressed genes (DMEGs) associated with CLL by integrating public databases. The direction of each DMEG in CLL was observed based on DMPs in the promoter and the body region, and the methylation heterogeneity of CLL subgroups and the effect of B cell maturation on CLL were explored. The findings suggest the importance of DNA methylation in the pathogenesis of CLL and provide potential markers for diagnostic and therapeutic purposes.
FRONTIERS IN GENETICS
(2023)
Article
Veterinary Sciences
Chen Wang, Yanxi Chen, Xiwang Yang, Yunsha Du, Zhiwen Xu, Yuancheng Zhou, Xu Yang, Xuetao Wang, Chuanming Zhang, Shuwei Li, Yijun Yang, Wenting Li, Xiao Liu
Summary: In this study, significant differential expression of 173 piRNAs was found in SVA-infected porcine kidney (PK-15) cells. GO annotation analysis revealed that metabolism, proliferation, and differentiation were significantly activated after SVA infection. KEGG analysis showed that significant DE piRNAs were mainly enriched in AMPK pathway, Rap1 pathway, circadian rhythm, and VEGF pathway. Additionally, the expression levels of the major piRNA-generating genes BMAL1 and CRY1 were significantly downregulated after SVA infection, suggesting that SVA may affect circadian rhythm and promote apoptosis.
FRONTIERS IN VETERINARY SCIENCE
(2023)
Article
Oncology
Carmela Ciardullo, Katarzyna Szoltysek, Peixun Zhou, Monika Pietrowska, Lukasz Marczak, Elaine Willmore, Amir Enshaei, Anna Walaszczyk, Jia Yee Ho, Vikki Rand, Scott Marshall, Andrew G. Hall, Christine J. Harrison, Meera Soundararajan, Jeyanthy Eswaran
Summary: This study investigates the clinical significance of B-cell regulators BACH2 and BCL6 in chronic lymphocytic leukaemia (CLL). The results show that low levels of BACH2 and BCL6 RNA expression are associated with shorter overall survival in CLL patients.
Article
Chemistry, Physical
Xi Zeng, Shaowei Jiang, Zhixing Zhong, Xiaoping Yang, Qiuyue Chen, Jin Li, Zhi Zhu, Jia Song, Chaoyong Yang
Summary: DIRECT is a digital microfluidics-based method that allows for simultaneous analysis of DNA methylation and gene expression in a single library construction, providing a cost-effective and simplified approach for single-cell analysis.
Article
Oncology
Ana Vagos Mata, Eduardo Espada, Daniela Alves, Blanca Polo, Maria Joao Costa, Conceicao Lopes, Joao F. Lacerda, Joao Raposo
Summary: R-HDMP is a valuable treatment option for elderly and frail patients with CLL/SLL, with low risk of severe myelotoxicity and other severe adverse events. It has been shown to serve as a bridge to other lines of treatment, including chemo-immunotherapy.
Article
Medicine, General & Internal
Amarpreet Devi, Lieze Thielemans, Eleni E. Ladikou, Taran K. Nandra, Timothy Chevassut
Summary: Lymphocytosis is a common blood-test finding that requires clinical evaluation to determine whether it is benign or malignant. Most chronic lymphocytic leukemia (CLL) patients are identified incidentally through routine blood tests. Patient outcomes are influenced by genetic predisposition and various prognostic markers. Chemo-immunotherapy is an effective treatment strategy for the majority of patients, and novel oral therapies are being developed.
Review
Hematology
Marta Kulis, Jose Ignacio Martin-Subero
Summary: Chronic lymphocytic leukaemia (CLL) is characterized by both driver genetic alterations and extensive epigenetic changes. Epigenomic studies have revealed the DNA methylome, chromatin accessibility, histone modifications, and 3D genome architecture of CLL. The DNA methylome contains information about the cellular origin and proliferative history of CLL cells, which are independent prognostic factors. Integrative analyses of chromatin marks have identified novel regulatory elements and altered transcription factor networks in CLL. Additionally, CLL cells display disease-specific patterns of 3D genome interactions. Single-cell analyses are becoming increasingly important in CLL research.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Article
Cell Biology
Michal K. Zarobkiewicz, Agnieszka A. Bojarska-Junak
Summary: CLL is the most common leukemia among adults, and currently there is no cure. Despite the dysfunction of gamma delta T cells in CLL patients, they can still be used for immunotherapy.
Article
Medicine, General & Internal
Martin Simkovic, Pavel Vodarek, Monika Motyckova, Dominika ecsiova, Petra Rozsivalova, Heidi Mocikova, Pavla Stepankova, Alice Sykorova, Katerina Hrochova, Filip Vrbacky, David Belada, Pavel Zak, Lukas Smolej
Summary: The RCD regimen is an effective treatment option for elderly patients with relapsed CLL, with significant predictors of shorter PFS being TP53 deletion/mutation, advanced Rai stage, and >= 2 previous lines of treatment. The addition of cyclophosphamide to the R-Dex regimen maintains similar efficacy, even with a 50% reduction in the dexamethasone dose.
EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
(2021)
Article
Chemistry, Multidisciplinary
Xing Xu, Li Lin, Jian Yang, Weizhou Qian, Rui Su, Xiaoxu Guo, Linfeng Cai, Zirun Zhao, Jia Song, Chaoyong Yang
Summary: This article introduces a nanoliter-scale single-cell multi-omics sample preparation platform called DMF-DR-seq, based on digital microfluidics. DMF-DR-seq demonstrates improved performance compared to current technology, with lower amplification bias, higher genome-wide coverage in DNA sequencing, and better gene detection ability in RNA sequencing. DMF-DR-seq was used to identify genome variation-induced abnormal transcriptome expression, revealing potential essential genes involved in the pathologic progress. The unique flexibility, sensitivity, and accuracy of DMF-DR-seq suggest its potential utility in deeper multi-omics analysis for inheritance mechanism study in single-cell biology.
Review
Medicine, General & Internal
Wan Norizzati Wan Mohamad Zamri, Nazihah Mohd Yunus, Ahmad Aizat Abdul Aziz, Ninie Nadia Zulkipli, Sarina Sulong
Summary: Chronic lymphocytic leukaemia (CLL) is a rare haematological malignancy in Asian countries but has a more aggressive disease course compared to Western countries. Various cytogenomic methods have been used to detect chromosomal aberrations in CLL, with DNA microarrays gaining popularity due to their speed and accuracy. However, challenges exist for every technology.
Article
Pharmacology & Pharmacy
Alvaro Fajardo, Paula Perbolianachis, Irene Ferreiro, Pilar Moreno, Gonzalo Moratorio
Summary: The article discusses the interpretation and combination of molecular or antigen-based detection methods for SARS-CoV-2, as well as their appropriate usage in different epidemiological contexts.
CURRENT OPINION IN PHARMACOLOGY
(2022)
Article
Oncology
Volundur Hafstao, Rolf Sokilde, Jari Hakkinen, Malin Larsson, Johan Vallon-Christersson, Carlos Rovira, Helena Persson
Summary: Research has found that fusion transcripts involving miRNA host genes in breast tumors are non-random, with overrepresentation of highly expressed genes in cancer pathways. Additionally, many miRNAs were upregulated in samples with host gene fusions, including established onco-genic miRNAs. This suggests that miRNA host fusions may act as "driver" mutations in tumors.
INTERNATIONAL JOURNAL OF CANCER
(2022)
Letter
Gastroenterology & Hepatology
Jimena Prieto, Florencia Rammauro, Martin Lopez, Romina Rey, Ana Fernandez, Sergio Bianchi, Solange Gerona, Julio Medina, Otto Pritsch
LIVER TRANSPLANTATION
(2022)
Article
Parasitology
Matias Gaston Perez, Natalia Rego, Markus Spiliotis, Klaus Brehm, Mara Cecilia Rosenzvit
Summary: This study compared the genome-wide expression profiles between primary cells of E. multilocularis and primary cells under electroporated conditions after 48 hours of culture using transcriptome data and bioinformatic analyses. They found that about 15% of genes showed significant variation in expression level in electroporated cells, including highly upregulated genes involved in detoxification and membrane remodeling. Genes related to carbohydrate metabolism, proteolysis, calcium ion binding, and microtubule processing were also significantly altered.
PARASITOLOGY RESEARCH
(2022)
Article
Urology & Nephrology
Mariana Seija, Florencia Rammauro, Jose Santiago, Natalia Orihuela, Catherine Zulberti, Danilo Machado, Cecilia Recalde, Javier Noboa, Victoria Frantchez, Rossana Astesiano, Federico Yandian, Ana Guerisoli, Alvaro Morra, Daniela Cassinelli, Cecilia Coelho, Belen de Aramburu, Paulina Gonzalez-Severgnini, Romina Moreno, Aldana Pippolo, Gabriela Lopez, Monica Lemos, Lorena Somariva, Eliana Lopez, Soledad Fumero, Carla Orihuela, Rosalia Rodriguez, Gonzalo Acuna, Victoria Rabaza, Nancy Perg, Rossana Cordero, Cristina Reisfeld, Paula Olivera, Paola Montero, Cecilia Nogueira, Catheryn Nalerio, Sergio Orihuela, Lilian Curi, Ema Burgstaller, Oscar Noboa, Otto Pritsch, Marcelo Nin, Sergio Bianchi
Summary: The antibody response against SARS-CoV-2 after vaccination is weak in kidney transplant patients, especially those who received inactivated virus-based vaccines. Strategies are needed to improve the immunogenicity in this population.
CLINICAL KIDNEY JOURNAL
(2022)
Letter
Urology & Nephrology
Mariana Seija, Florencia Rammauro, Javier Noboa, Jose Santiago, Natalia Orihuela, Catherine Zulberti, Danilo Machado, Cecilia Recalde, Rossana Astesiano, Federico Yandian, Victoria Frantchez, Ana Guerisoli, Alvaro Morra, Daniela Cassinelli, Cecilia Coelho, Belen de Aramburu, Paulina Gonzalez-Severgnini, Romina Moreno, Aldana Pippolo, Gabriela Lopez, Monica Lemos, Lorena Somariva, Eliana Lopez, Soledad Fumero, Carla Orihuela, Ana Laura Suarez, Rosalia Rodriguez, Gonzalo Acuna, Victoria Rabaza, Nancy Perg, Rossana Cordero, Cristina Reisfeld, Paula Olivera, Paola Montero, Cecilia Nogueira, Catheryn Nalerio, Sergio Orihuela, Lilian Curi, Ema Bugstaller, Otto Pritsch, Marcelo Nin, Oscar Noboa, Sergio Bianchi
KIDNEY INTERNATIONAL REPORTS
(2022)
Article
Multidisciplinary Sciences
Martin Flo, Federico Carrion, Natalia Olivero-Deibe, Sergio Bianchi, Madelon Portela, Florencia Rammauro, Beatriz Alvarez, Otto Pritsch
Summary: The study successfully expressed and characterized the retropepsin of Bovine leukemia virus, shedding light on its activity and kinetic properties. The findings contribute to a better understanding of the infection process of this virus and may have implications for the study of other viral proteases.
Article
Immunology
Florencia Rammauro, Federico Carrion, Natalia Olivero-Deibe, Martin Flo, Ana Ferreira, Otto Pritsch, Sergio Bianchi
Summary: Heterologous prime-boost vaccination with CoronaVac and BNT162b2 led to a significant increase in serum anti-RBD specific antibody levels followed by a decrease. However, these levels remained higher than those in individuals vaccinated only with CoronaVac. Serum IgG levels were correlated with antibody binding, blocking RBD-ACE2 interaction, and Fc-effector mechanisms. This study provides insights into the humoral immune response to heterologous vaccination and the scheduling of future vaccine boosters.
Article
Virology
Angelica A. Palm, Joakim Esbjornsson, Anders Kvist, Fredrik Mansson, Antonio Biague, Hans Norrgren, Marianne Jansson, Patrik Medstrand
Summary: This study investigated the evolution of molecular properties of HIV-2 Env regions during the asymptomatic phase of the infection. It found that the rate of change in potential N-linked glycosylation sites and diversity differed between faster and slower progressors.
Article
Immunology
Natalia Rego, Maria Gabriela Libisch, Carlos Rovira, Juan Pablo Tosar, Carlos Robello
Summary: Chagas disease, caused by Trypanosoma cruzi, can infect various nucleated cells in mammals. This study focused on the role of microRNAs in the host-T. cruzi interaction and found that miR-146a, miR-708, and miR-1246 consistently respond to T. cruzi infection across different human cell types. The response to parasite infection was broad in macrophages, while changes in microRNAs were modest in epithelial and cardiomyocytes. These findings highlight the importance of considering microRNA changes at the cellular level and suggest miR-1246 and miR-708 as potential biomarkers for Chagas disease.
FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY
(2023)
Article
Genetics & Heredity
Cecilia Salazar, Ignacio Ferres, Mercedes Paz, Alicia Costabile, Gonzalo Moratorio, Pilar Moreno, Gregorio Iraola
Summary: Most relevant mutations in the SARS-CoV-2 genome are found in the S gene, but large-scale whole-genome sequencing is challenging in developing countries due to cost and infrastructure limitations. To address this issue, a fast and cost-effective workflow is presented, which includes a library preparation protocol based on tiled amplification of the S gene and sequencing using Nanopore platforms. This protocol enables quick identification of key variants and mutational surveillance of the highly relevant S gene, reducing detection time and overall costs, particularly in low-income regions.
MICROBIAL GENOMICS
(2023)
Article
Multidisciplinary Sciences
Marianoel Pereira-Gomez, Rodrigo Arce, Diego Ferla, Diego Simon, Cecilia Salazar, Paula Perbolianachis, Alicia Costabile, Alvaro Fajardo, Fabian Aldunate, Nicolas Nin, Javier Hurtado, Gregorio Iraola, Pilar Moreno, Gonzalo Moratorio
Summary: Understanding the transmission routes of SARS-CoV-2 is crucial for effective interventions in healthcare institutions. Longitudinal studies about surface contamination in hospitals with different infrastructure are needed to advance our knowledge about viral spread. Our study found that negative pressure systems in hospitals were associated with lower levels of surface contamination with SARS-CoV-2.
Article
Oncology
Carlos Enrique Balcazar Lopez, Juliane Albrecht, Voelundur Hafstao, Cornelia Borjesson Freitag, Johan Vallon-Christersson, Cristian Bellodi, Helena Persson
Summary: This study provides a comprehensive annotation of estrogen receptor alpha (ER) isoforms and investigates their functional differences. It also highlights the potential impact of antibody specificity on the interpretation of ER-status in breast cancer pathology.
Meeting Abstract
Surgery
M. Seija, F. Rammauro, J. Santiago, N. Orihuela, C. Zulberti, D. Machado, C. Recalde, J. Noboa, R. Astesiano, F. Yandian, A. Guerisoli, A. Morra, D. Cassinelli, A. Pippolo, B. De Aramburu, C. Coelho, P. Gonzalez, R. Romero, R. Rodriguez-Teja, G. Acuna, V. Rabaza, N. Perg, R. Cordero, S. Orihuela, L. Curi, E. Burgstaller, O. Noboa, O. Pritsch, M. Nin, S. Bianchi
AMERICAN JOURNAL OF TRANSPLANTATION
(2022)
Letter
Immunology
Natalia Rego, Alicia Costabile, Mercedes Paz, Cecilia Salazar, Paula Perbolianachis, Lucia Spangenberg, Ignacio Ferres, Rodrigo Arce, Alvaro Fajardo, Mailen Arleo, Tania Possi, Natalia Reyes, Ma Noel Bentancor, Andres Lizasoain, Maria Jose Benitez, Viviana Bortagaray, Ana Moller, Gonzalo Bello, Ighor Arantes, Mariana Brandes, Pablo Smircich, Odhille Chappos, Melissa Duquia, Belen Gonzalez, Luciana Griffero, Mauricio Mendez, Ma Pia Techera, Juan Zanetti, Bernardina Rivera, Matias Maidana, Martina Alonso, Cecilia Alonso, Julio Medina, Henry Albornoz, Rodney Colina, Veronica Noya, Gregorio Iraola, Tamara Fernandez-Calero, Gonzalo Moratorio, Pilar Moreno
Summary: The study presents a genomic surveillance program for monitoring SARS-CoV-2 variants in Uruguay, including a PCR method for VOCs, surveillance workflow, and the multiple introductions and community transmission of the SARS-CoV-2 P.1 VOC in Uruguay.
EMERGING INFECTIOUS DISEASES
(2021)