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  1. Article ; Online: Evaluación de la expresión de PD-L1 e infiltración linfocitaria intratumoral en carcinoma de mama invasivo triple negativo.

    Barrios Barreto, Rina / Silvera Redondo, Carlos / Garavito, María Del Pilar / Ardila Pereira, Laura

    Medicina

    2024  Volume 84, Issue 2, Page(s) 227–235

    Abstract: Introduction: Triple negative breast cancer endophenotype (TNBC) is one of the least frequent and without therapeutic target; therefore we propose to study the correlation of PD-L1 immune checkpoint with the establishment of tumor microenvironment ... ...

    Title translation Evaluation of PD-L1 expression and intratumoral lymphocytic infiltration in triple-negative invasive breast carcinoma.
    Abstract Introduction: Triple negative breast cancer endophenotype (TNBC) is one of the least frequent and without therapeutic target; therefore we propose to study the correlation of PD-L1 immune checkpoint with the establishment of tumor microenvironment assessed by intratumoral stromal lymphocyte infiltration (TILS) and its importance in clinical practice.
    Methods: A retrospective case-control study was performed, with 31 cases of triple-negative infiltrating breast carcinoma and 57 unmatched controls of Luminal A, Luminal B and HER-2 endophenotype seen in one year. The following variables were evaluated: histologic type and grade, PD-L1 expression with clone 22C3, TILS, lymphovascular invasion, tumor size, lymph node involvement and metastasis. Statistical analysis was performed with the chi-square test and Spearman correlation coefficient test.
    Results: a statistically significant negative correlation was found between TILS and PD-L1 (rho - 0.106, p 0.025), indicating that the higher the expression of PD-L1, the lower the intratumoral lymphocytic infiltration. In the TILS B (10-40% TILS) and C (40-90% TILS) groups where there was a marked intratumoral inflammatory infiltrate, a greater number of patients were negative for PD-L1 (CPS <10) with 16 and 10 cases, respectively. For TNBC cases a negative association coefficient was identified (rho -0.378) with statistical significance (p 0.01).
    Discussion: The association between TNBC, TILS and PDL1 expression was established, which is important for the establishment of target therapies and the development of precision medicine.
    MeSH term(s) Aged ; Female ; Humans ; Middle Aged ; B7-H1 Antigen/analysis ; B7-H1 Antigen/metabolism ; Case-Control Studies ; Lymphocytes, Tumor-Infiltrating/immunology ; Retrospective Studies ; Triple Negative Breast Neoplasms/pathology ; Triple Negative Breast Neoplasms/immunology ; Tumor Microenvironment/immunology
    Chemical Substances B7-H1 Antigen ; CD274 protein, human
    Language Spanish
    Publishing date 2024-05-07
    Publishing country Argentina
    Document type English Abstract ; Journal Article
    ZDB-ID 411586-7
    ISSN 1669-9106 ; 0025-7680 ; 0325-951X
    ISSN (online) 1669-9106
    ISSN 0025-7680 ; 0325-951X
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Bioinformatic Analysis of Plus Gene Expression Related to Progression from Leukoplakia to Oral Squamous Cell Carcinoma.

    Guzman De Avila, Jaime / Silvera-Redondo, Carlos / Alviz-Amador, Antistio

    Asian Pacific journal of cancer prevention : APJCP

    2022  Volume 23, Issue 11, Page(s) 3833–3842

    Abstract: Introduction: Leukoplakia is one of the most frequently found lesions in the oral cavity, with a probability of 17 to 24% of becoming malignant cells in a period of 30 years.: Objective: To identify differentially expressed gene profiles of ... ...

    Abstract Introduction: Leukoplakia is one of the most frequently found lesions in the oral cavity, with a probability of 17 to 24% of becoming malignant cells in a period of 30 years.
    Objective: To identify differentially expressed gene profiles of leukoplakia and its progression to oral squamous cell carcinoma, essential for the discovery of new biomarkers to predict and prevent the presence of diseases in the oral cavity.
    Methods: Initially, gene profiles of GSE85514 and GSE160042 from the Gene Expression Omnibus database were used. Differentially expressed genes were identified using GEO2R. The CLUEGO plugin in Cytoscape was used for DEG functionality and enrichment analysis. Finally, a protein-protein interaction (PPI) network was constructed using Cytoscape from data collected online from the STRING server.
    Results: According to the MCC algorithm, the 10 most found gene sequences were HNRNPU, SMC1A, PAFAH1B1, EHMT1, SPTBN4, OLFM1, NCAM1, SF3B3, FGF2, and UBE2I; with HNRNPU, SMC1A, and PAFAH1B1 being the most representative of the modules.
    Conclusions: We were able to describe the gene sequences that promote the progression from leukoplakia to oral squamous cell carcinoma. Within these genes, the HNRNPU, SMC1A, and PAFAH1B1 constitute the main promising therapeutic targets to counteract the progression of oral cancer, they could also be important biomarkers for the diagnosis and classification of the disease.
    MeSH term(s) Humans ; Mouth Neoplasms/genetics ; Squamous Cell Carcinoma of Head and Neck ; Carcinoma, Squamous Cell/genetics ; Computational Biology ; Leukoplakia ; Head and Neck Neoplasms ; Gene Expression
    Language English
    Publishing date 2022-11-01
    Publishing country Thailand
    Document type Journal Article
    ZDB-ID 2218955-5
    ISSN 2476-762X ; 1513-7368
    ISSN (online) 2476-762X
    ISSN 1513-7368
    DOI 10.31557/APJCP.2022.23.11.3833
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Secondary involvement of breasts by follicular lymphoma.

    Barrios Barreto, Rina / Mendoza Suarez, Liney / Del Valle, Astrid / Silvera Redondo, Carlos / De La Hoz Herazo, Haydee P

    Medicina

    2023  Volume 83, Issue 1, Page(s) 149–152

    Abstract: Metastatic lesions involving the breast are exceptional; hematolymphoid neoplasias rank second as per their frequency in case series reported in the literature with a prevalence of 0.04% to 1.6% when considering all malignant breast tumors and reaching ... ...

    Title translation Compromiso secundario de glándulas mamarias por linfoma folicular.
    Abstract Metastatic lesions involving the breast are exceptional; hematolymphoid neoplasias rank second as per their frequency in case series reported in the literature with a prevalence of 0.04% to 1.6% when considering all malignant breast tumors and reaching an annual incidence of 0.07%, mainly accounted for by secondary lymphomas. Eighty percent of them are diffuse, large B cells lymphomas (DLBCL), followed by follicular lymphoma and marginal zone lymphoma. This case is about a 60 year-old woman with a diagnosis of follicular lymphoma, who presented with a right perirenal mass and ipsilateral retroperitoneal and inguinal lymph nodes, whose clinical status progressed during the treatment with unusual secondary involvement of both breasts by hematolymphoid neoplasia. The biological behavior of the condition was evaluated to understand the pathophysiological mechanisms; this was done analyzing clinical, histologic and prognostic factors that led to a definitive staging, which was key to select the individualized therapy following the clinical practice guidelines based on scientific evidence, with a positive impact on the patient's medical progress.
    MeSH term(s) Female ; Humans ; Middle Aged ; Lymphoma, Follicular/diagnosis ; Lymphoma, Follicular/drug therapy ; Lymphoma, Follicular/pathology ; Lymphoma, Large B-Cell, Diffuse/pathology ; Lymphoma, B-Cell, Marginal Zone/diagnosis ; Lymph Nodes/pathology ; Incidence
    Language English
    Publishing date 2023-02-11
    Publishing country Argentina
    Document type Case Reports
    ZDB-ID 411586-7
    ISSN 1669-9106 ; 0025-7680 ; 0325-951X
    ISSN (online) 1669-9106
    ISSN 0025-7680 ; 0325-951X
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Renal epidermoid cyst: A case report.

    Barrios Barreto, Rina / Mendoza Suarez, Liney / Del Valle Pestana, Astrid / Silvera Redondo, Carlos

    Urology case reports

    2021  Volume 38, Page(s) 101649

    Abstract: A 56-year-old male patient with no significant clinical history manifested lumbar pain, macroscopic hematuria and dysuria. Radiology images found a renal mass in the upper right pole at the pyelocaliceal level. A partial nephrectomy was performed to ... ...

    Abstract A 56-year-old male patient with no significant clinical history manifested lumbar pain, macroscopic hematuria and dysuria. Radiology images found a renal mass in the upper right pole at the pyelocaliceal level. A partial nephrectomy was performed to resect the tumor, and histology revealed the diagnosis of a renal epidermoid cyst, which is an infrequent lesion with a benign biological behavior. Its etiology is still controversial, but its clinical course is satisfactory after complete resection of the lesion.
    Language English
    Publishing date 2021-03-23
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2745459-9
    ISSN 2214-4420
    ISSN 2214-4420
    DOI 10.1016/j.eucr.2021.101649
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Dermatofibrosarcoma protuberans with unusual presentation in vulva.

    Barrios Barreto, Rina / Mendoza Suarez, Liney / Del Valle, Astrid / Silvera Redondo, Carlos / De La Hoz Pabola, Andrés

    Medicina

    2022  Volume 82, Issue 3, Page(s) 441–444

    Abstract: Gynecological sarcomas are rare and their location in the vulva and vagina has an incidence of 5% of all malignant neoplasms in the female genital tract. We present the case of a 54-year-old patient with a diagnosis of dermatofibrosarcoma protuberans in ... ...

    Title translation Dermatofibrosarcoma protuberans con presentación inusual en vulva.
    Abstract Gynecological sarcomas are rare and their location in the vulva and vagina has an incidence of 5% of all malignant neoplasms in the female genital tract. We present the case of a 54-year-old patient with a diagnosis of dermatofibrosarcoma protuberans in the vulva, an infrequent pathology with less than 60 cases reported worldwide in this anatomical location. Clinically, it is locally aggressive, due to the proliferation of spindle cells with pleomorphism and frequent mitotic figures infiltrating the reticular dermis and subcutaneous cellular tissue, giving rise to variable size tumors with high local recurrence rates. The first-line treatment is surgical excision of the tumor with Mohs micrographic surgery among other surgical techniques for complete circumferential peripheral and deep margin assessment. However, identification of carcinogenesis mechanisms where the chromosomal translocation t (17; 22) (q22; q13) is recognized, forming the COL1A1-PDGFB fusion gene, which participates in stimulating tumor cell proliferation, allowing treatment with tyrosine kinase inhibitors such as imatinib for neoadjuvant therapy of surgically unresectable tumors and local recurrences.
    MeSH term(s) Dermatofibrosarcoma/diagnosis ; Dermatofibrosarcoma/genetics ; Dermatofibrosarcoma/surgery ; Female ; Humans ; Imatinib Mesylate/therapeutic use ; Middle Aged ; Skin Neoplasms/diagnosis ; Translocation, Genetic ; Vulva/pathology
    Chemical Substances Imatinib Mesylate (8A1O1M485B)
    Language English
    Publishing date 2022-05-27
    Publishing country Argentina
    Document type Case Reports
    ZDB-ID 411586-7
    ISSN 1669-9106 ; 0025-7680 ; 0325-951X
    ISSN (online) 1669-9106
    ISSN 0025-7680 ; 0325-951X
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Mitochondrial DNA deletion and duplication in Kearns-Sayre Syndrome (KSS) with initial presentation as Pearson Marrow-Pancreas Syndrome (PMPS): Two case reports in Barranquilla, Colombia.

    Sabella-Jiménez, Vanessa / Otero-Herrera, Carlos / Silvera-Redondo, Carlos / Garavito-Galofre, Pilar

    Molecular genetics & genomic medicine

    2020  Volume 8, Issue 11, Page(s) e1509

    Abstract: Background: Kearns-Sayre Syndrome (KSS) and Pearson Marrow-Pancreas Syndrome (PMPS) are among the classic phenotypes caused by mitochondrial DNA (mtDNA) deletions. KSS is a rare mitochondrial disease defined by a classic triad of progressive external ... ...

    Abstract Background: Kearns-Sayre Syndrome (KSS) and Pearson Marrow-Pancreas Syndrome (PMPS) are among the classic phenotypes caused by mitochondrial DNA (mtDNA) deletions. KSS is a rare mitochondrial disease defined by a classic triad of progressive external ophthalmoplegia, atypical pigmentary retinopathy, and onset before 20 years. PMPS presents in the first year of life with bone marrow failure and exocrine pancreatic dysfunction, and can evolve into KSS later in life. Even though an mtDNA deletion is the most frequent mutation in KSS and PMPS, cases of duplications and molecular rearrangements have also been described. In Colombia, few case reports of KSS and PMPS have been published in indexed journals or have been registered in scientific events.
    Methods: We discuss clinical and genetic aspects of two case reports of pediatric female patients, with initial clinical diagnosis of PMPS who later evolved into KSS, with confirmatory molecular studies of an mtDNA deletion and an mtDNA duplication.
    Results: A large-scale mtDNA deletion, NC_012920.1:m.8286_14416del, was confirmed by Southern Blot in patient 1. An mtDNA duplication of 7.9 kb was confirmed by MLPA in patient 2.
    Conclusions: Our findings are compatible with the phenotypic and genetic presentation of PMPS and KSS. We present the first molecularly confirmed case reports of Colombian patients, diagnosed initially with PMPS, who later evolved to KSS.
    MeSH term(s) Child ; Congenital Bone Marrow Failure Syndromes/genetics ; Congenital Bone Marrow Failure Syndromes/pathology ; DNA, Mitochondrial/genetics ; Diagnosis, Differential ; Female ; Gene Duplication ; Humans ; Kearns-Sayre Syndrome/genetics ; Kearns-Sayre Syndrome/pathology ; Lipid Metabolism, Inborn Errors/genetics ; Lipid Metabolism, Inborn Errors/pathology ; Mitochondrial Diseases/genetics ; Mitochondrial Diseases/pathology ; Muscular Diseases/genetics ; Muscular Diseases/pathology ; Phenotype ; Sequence Deletion
    Chemical Substances DNA, Mitochondrial
    Language English
    Publishing date 2020-10-08
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 2734884-2
    ISSN 2324-9269 ; 2324-9269
    ISSN (online) 2324-9269
    ISSN 2324-9269
    DOI 10.1002/mgg3.1509
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article: Exosomes: Potential Disease Biomarkers and New Therapeutic Targets.

    Mosquera-Heredia, Maria I / Morales, Luis C / Vidal, Oscar M / Barceló, Ernesto / Silvera-Redondo, Carlos / Vélez, Jorge I / Garavito-Galofre, Pilar

    Biomedicines

    2021  Volume 9, Issue 8

    Abstract: Exosomes are extracellular vesicles released by cells, both constitutively and after cell activation, and are present in different types of biological fluid. Exosomes are involved in the pathogenesis of diseases, such as cancer, neurodegenerative ... ...

    Abstract Exosomes are extracellular vesicles released by cells, both constitutively and after cell activation, and are present in different types of biological fluid. Exosomes are involved in the pathogenesis of diseases, such as cancer, neurodegenerative diseases, pregnancy disorders and cardiovascular diseases, and have emerged as potential non-invasive biomarkers for the detection, prognosis and therapeutics of a myriad of diseases. In this review, we describe recent advances related to the regulatory mechanisms of exosome biogenesis, release and molecular composition, as well as their role in health and disease, and their potential use as disease biomarkers and therapeutic targets. In addition, the advantages and disadvantages of their main isolation methods, characterization and cargo analysis, as well as the experimental methods used for exosome-mediated drug delivery, are discussed. Finally, we present potential perspectives for the use of exosomes in future clinical practice.
    Language English
    Publishing date 2021-08-20
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2720867-9
    ISSN 2227-9059
    ISSN 2227-9059
    DOI 10.3390/biomedicines9081061
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article: 19p13.3 Deletion With Polyotia: A Case Report and Literature Review.

    Silvera Redondo, Carlos / Avendaño Capriles, Camilo Andrés / Fernández Sánchez, David / David Espinosa, Ricardo / Acostamadiedo Marx, Ana Sofía

    Cureus

    2021  Volume 13, Issue 11, Page(s) e19661

    Abstract: Mutations at chromosome 19 are rare, and reports in the literature are scarce and clinically variable. This chromosome has a high genetic density, and hence a given deletion can cause distinctive effects on body systems and, in addition, result in a ... ...

    Abstract Mutations at chromosome 19 are rare, and reports in the literature are scarce and clinically variable. This chromosome has a high genetic density, and hence a given deletion can cause distinctive effects on body systems and, in addition, result in a characteristic phenotype.  We report the case of a patient who presented with distinctive signs and symptoms such as delayed psychomotor development, severe postnatal delay, dolichocephaly, polyotia, and ocular hypertelorism. Even though all cases with a chromosome 19 deletion do not present in the same way, they still share some clinical manifestations that should be considered, which prompted us to present a summary of the available literature on the subject. Additionally, to our knowledge, this is the first and only case with polyotia in its phenotype to be reported in Colombia to date.
    Language English
    Publishing date 2021-11-17
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2747273-5
    ISSN 2168-8184
    ISSN 2168-8184
    DOI 10.7759/cureus.19661
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article: APOE gene polymorphism analysis in Barranquilla, Colombia.

    Ruiz, Martha / Arias, Isis / Rolón, Gloria / Hernández, Enio / Garavito, Pilar / Silvera-Redondo, Carlos

    Biomedica : revista del Instituto Nacional de Salud

    2016  Volume 36, Issue 1, Page(s) 52–58

    Abstract: Introduction: The genetic variability present in the APOE gene polymorphism is considered an important factor associated with predisposition to diseases affecting lipid metabolism, as well as heart diseases and Alzheimer's disease, among others. ... ...

    Abstract Introduction: The genetic variability present in the APOE gene polymorphism is considered an important factor associated with predisposition to diseases affecting lipid metabolism, as well as heart diseases and Alzheimer's disease, among others. Understanding it as a risk factor in different populations and ethnic groups is a useful tool. 
    Objective: To analyze the APOE gene polymorphism and determine allelic and genotypic frequencies of a representative sample of population from Barranquilla, Colombia. 
    Materials and methods: We performed a descriptive and comparative study. The sample size was 227 unrelated individuals from Barranquilla, Colombia. 
    Results: The most frequent allele was the ε3, with 85%, followed by the ε4 allele (13%) and ε2 (1.8%). The genotypes found were: ε3/ε3: 71.8%, ε3/ε4: 24.2%, ε2/ε3: 2.2%, ε2/ε4: 1.3% and ε4/ε4: 0.4%. The ε2/ε2 genotype was not found in this study. The sample exhibited the Hardy-Weinberg equilibrium. 
    Conclusion: The frequency of the ε3 allele and the ε3/ε3 genotype was similar to that reported in the literature in countries like Brazil, Mexico, Colombia, and in some Colombian Amerindian ethnic groups. The ε2/ε2 genotype was absent. This result is consistent with those found in other population groups worldwide. The frequency of the ε4 allele and the genotypes associated in this population could be related to the presence of diseases such as hypercholesterolemia, myocardial infarction and Alzheimer.
    Language English
    Publishing date 2016-03-03
    Publishing country Colombia
    Document type Journal Article
    ISSN 0120-4157
    ISSN 0120-4157
    DOI 10.7705/biomedica.v36i1.2612
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Polymorphisms of leptin-melanocortin system genes associated with obesity in an adult population from Barranquilla

    Garavito, Pilar / Mosquera-Heredia, María Isabel / Fang, Luis / Payares, Fausto / Ruiz, Martha / Arias, Isis / Tuesca, Rafael / Navarro, Édgar / Silvera-Redondo, Carlos

    Biomedica : revista del Instituto Nacional de Salud

    2020  Volume 40, Issue 2, Page(s) 257–269

    Title translation [Polimorfismos de los genes del sistema leptina-melanocortina asociados con la obesidad en la población adulta de Barranquilla].
    MeSH term(s) Adult ; Aged ; Alleles ; Blood Pressure/genetics ; Case-Control Studies ; Cholesterol, HDL/blood ; Colombia/epidemiology ; Cross-Sectional Studies ; Female ; Gene Frequency ; Genotype ; Glycated Hemoglobin/analysis ; Humans ; Insulin/blood ; Leptin/genetics ; Male ; Middle Aged ; Obesity/blood ; Obesity/epidemiology ; Obesity/genetics ; Polymorphism, Single Nucleotide ; Real-Time Polymerase Chain Reaction ; Receptor, Melanocortin, Type 4/genetics ; Receptors, Leptin/genetics ; Sampling Studies ; Young Adult
    Chemical Substances Cholesterol, HDL ; Glycated Hemoglobin A ; Insulin ; LEP protein, human ; LEPR protein, human ; Leptin ; MC4R protein, human ; Receptor, Melanocortin, Type 4 ; Receptors, Leptin
    Language Spanish
    Publishing date 2020-06-15
    Publishing country Colombia
    Document type Journal Article
    ZDB-ID 2059952-3
    ISSN 2590-7379 ; 2590-7379
    ISSN (online) 2590-7379
    ISSN 2590-7379
    DOI 10.7705/biomedica.4827
    Database MEDical Literature Analysis and Retrieval System OnLINE

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