A5011232698- Acute Myeloid Leukemia Research
- Chronic Myeloid Leukemia Treatments
- Acute Lymphoblastic Leukemia research
- Hematological disorders and diagnostics
- Lymphoma Diagnosis and Treatment
- Eosinophilic Disorders and Syndromes
- Hematopoietic Stem Cell Transplantation
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Chronic Lymphocytic Leukemia Research
- Hemoglobinopathies and Related Disorders
- Retinoids in leukemia and cellular processes
- Muscle Physiology and Disorders
- Multiple Myeloma Research and Treatments
- Histone Deacetylase Inhibitors Research
- Cardiomyopathy and Myosin Studies
- Pneumocystis jirovecii pneumonia detection and treatment
- Blood disorders and treatments
- Neurogenetic and Muscular Disorders Research
- Prenatal Screening and Diagnostics
- Immune Cell Function and Interaction
- Genomic variations and chromosomal abnormalities
- TGF-β signaling in diseases
- Childhood Cancer Survivors' Quality of Life
- Pluripotent Stem Cells Research
- Sarcoma Diagnosis and Treatment
Consejo Nacional de Investigaciones Científicas y Técnicas
2014-2024
Academia Nacional de Medicina
2015-2024
Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia
2023
ORCID
2023
Experimental Medicine and Biology Institute
2012-2021
Background A growing body of research shows a reciprocal regulation between the neural and immune systems. Acetylcholine (ACh) is most important parasympathetic neurotransmitter, increasing evidence indicates that it able to modulate response. Interestingly, in recent years, has become clear cells express non-neuronal cholinergic system, which stimulated course inflammatory processes. We have previously shown dendritic (DC) muscarinic receptors, as well enzymes responsible for synthesis...
Abstract Myelodysplastic syndromes (MDS) include a group of heterogeneous hematological disorders with variable risk leukemic evolution and short survival. Around 40–50% patients show abnormal karyotypes that are mostly characterized by monosomies or deletions. Cytogenetic findings an independent prognostic factor the International scoring system (IPSS) differentiates three cytogenetic categories, despite Intermediate one being heterogeneous. The aim this study, including 421 Argentinean...
There are previously reported data describing differences between Asian and European patients with Myelodysplastic Syndromes (MDS), few direct comparisons based on cancer registration characteristics or using cohorts to validate scoring systems. This is the first study from South-America, which attempts describe demographic, clinical features, outcome of MDS patients. We retrospectively analyzed 1,080 de novo Argentina (635), Brazil (345), Chile (100). Chilean were younger (P = 0.001) female...
FHL1 gene locates in the Xq26 region and encodes for four half LIM domain protein 1. It plays a crucial role muscle cells mutations are related to muscular dystrophy (MD). Peripheral blood mononuclear (PBMCs) were obtained from 2 family patients with MD that carry pathogenic missense mutation (c.377G > A, p.C126Y). Induced pluripotent stem (iPSCs) generated by PBMCs reprogramming using lentiviral-hSTEMCCA-loxP vector, obtaining FHL1-T FHL1-V iPSCs lines patients. genotype was maintained,...
The Molecular International Prognostic Scoring System (IPSS-M) has improved the prediction of clinical outcomes for myelodysplastic syndromes (MDS). Artificial Intelligence MDS (AIPSS-MDS), based on classical parameters, outperformed IPSS, revised version (IPSS-R). For first time, we validated IPSS-M and other molecular prognostic models compared them with established IPSS-R AIPSS-MDS using data from South American patients.
The impaired hematopoiesis in acquired aplastic anemia (AA) results from immune-mediated mechanisms. We characterized polymorphisms implicated controlling type-1 cytokine production 69 patients with AA. Our data suggest that the studied are not associated susceptibility overall AA population. However, presence of higher expressing TNF - 308A allele was younger age (p = 0.0297) and more profound neutropenia 0.0312), over-represented very severe 0.0168). producing IFNG 12 CA-repeat showed...
Chronic myeloid leukemia (CML) is a clonal malignant disorder of pluripotent hematopoietic stem cell characterized by the presence Philadelphia (Ph) chromosome. Less than 10% patients present variant Ph chromosomes involving 1 or more additional chromosomes, other 9 and 22, with uncertain prognosis. There are mainly 1- 2-step mechanisms proposed to explain genesis depending on whether involved simultaneously broken rejoined if standard t(9;22) occurs first. By combined cytogenetic FISH...
An animal model of undifferentiated thyroid carcinoma (UTC), which may be useful for studying tumorigenesis and response to new therapies, is described. The UTC human cell line ARO was implanted into the back nude mice. histology, induction metastasis, biokinetics in vivo vitro growth, as well cytogenetic molecular aspects were studied. tumor showed extensive viability with high mitotic activity. At 117 days, tumors reached a size 1,700 mm3 central necrotic portion thin layer viable cells....
A small primary or secondary tumor load can occasionally induce more deleterious effects than a histologically identical larger one. In the four murine models studied herein this enhanced aggressiveness could not be attributed to NRAS mutations other hereditary changes, differential vascularization of live tissues, necrosis content. Instead, main feature associated with aggressive behavior was presence high number vessels, sometimes filled inflammatory cells, inside area, which we have...
BCR-ABL1 point mutations are the most common cause of resistance in patients with chronic myeloid leukemia (CML) who fail or lose response to tyrosine kinase inhibitors. We have developed a rapid method screen by high resolution melting (HRM). designed strategy based on amplification refractory mutational system-quantitative polymerase chain reaction (ARMS-qPCR) identify and quantify several clinically relevant mutations. From 856 CML studied during 2 years our laboratory, we selected 32...
Myelodysplastic Syndromes (MDS) are a heterogeneous group of hematologic diseases characterized by refractory cytopenia(s) and variable risk leukemic progression. Cytogenetic analysis is important in day-to-day clinical practice helping to define subgroups MDS patients who share similarities the course disease. There recurring aberrations affecting chromosomes 5, 7, 8, 20. While all them do not suggest therapeutic approach, their presence has been considered as indicator since original...
The arrhythmogenic cardiomyopathy (ACM) is an inherited heart muscle disease characterized by the progressive replacement of contractile myocardium fibro-fatty adipose tissue, that generates ventricular arrhythmias and sudden death in patients. ACM has a genetic origin with alterations desmosomal genes most commonly mutated being PKP2 gene. We generated two CRISPR/Cas9 edited iPSCs lines, one iPSC line point mutation reported patients another premature stop codon to knock-out same
Specific NRAS oncogene missense mutations have been frequently found in some tumors and several hematological diseases, especially those of myeloid origin. There is a wide range PCR-based methods for screening detection exon 1 single-base substitutions. However, there are disadvantages ambiguities associated with these techniques because all them require either separate probes, PCR amplifications, or complicated post-PCR manipulations. This report describes new approach gene at codon 12 13...
We describe a multiplex polymerase chain reaction (PCR)-based test that detected all relevant NRAS activating mutations using single PCR followed directly by electrophoresis. The uses Universal Heteroduplex Generator (UHG) to detect exon-2 (codon 61) in with an UHG for exon-1 (codons 12 and 13). method differentiated 19 these exons showed mutation independent sensitivity of approximately 6%. sensitive, specific detection this rapid represents minimum workload could be applied readily...