Luz Dary Gutierrez

Fundación Universitaria de Ciencias de la Salud- Centro Dermatológico Federico Lleras Acosta · Genetics

Introducción: El cáncer de endometrio ocupa el sexto lugar en incidencia del cáncer en mujeres. La caracterización molecular de este cáncer permite optimizar la estratificación de riesgo para mejorar el tratamiento de las pacientes. Objetivo: Determinar el perfil molecular TCGA de pacientes con cáncer de endometrio en Bogotá, D.C., Colombia. Méto...

The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID-19) had an estimated overall case fatality ratio of 1.38% (pre-vaccination), being 53% higher in males and increasing exponentially with age. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, we found 133 cases (1.42%) with detectable clonal...

The genetic basis of severe COVID-19 has been thoroughly studied and many genetic risk factors shared between populations have been identified. However, reduced sample sizes from non-European groups have limited the discovery of population-specific common risk loci. In this second study nested in the SCOURGE consortium, we have conducted the larges...

Background The lepromatous leprosy (LL) disease is caused by Mycobacterium leprae and Mycobacterium lepromatosis which is characterized by inadequate response to treatment, a propensity to drug resistance, and patient disability. We aimed to evaluate current immunomodulatory medicines and their target proteins collectively as a drug repurposing str...

El cáncer en niños y adolescentes comprende un grupo heterogéneo de neoplasias. Dentro de estas, la leucemia es la más frecuente. Actualmente, la inmunoterapia con anticuerpos monoclonales y la terapia celular adoptiva basada en la modificación por medio de ingeniería genética de las células T representa una gran oportunidad para los pacientes que...

Background: Single nucleotide variants in toll-like receptor genes play a crucial role in leprosy susceptibility or resistance. Methods: With an epidemiology case-control study, associations between SNVs rs5743618 in TLR1, rs5743708 in TLR2, and rs5743810 in TLR6 and overall susceptibility for leprosy were estimated in 114 cases and 456 controls...

Colorectal carcinoma (CRC) is the third most frequent neoplasm worldwide and the second leading cause of mortality. Neuroendocrine peptides such as glucagon, bombesin, somatostatin, cholecystokinin, and gastrin as well as growth factors such as platelet-derived growth factor, epidermal growth factor, insulin-like growth factor, and fibro-blast grow...

Despite the high contagion and mortality rates that have accompanied the coronavirus disease-19 (COVID-19) pandemic, the clinical presentation of the syndrome varies greatly from one individual to another. Potential host factors that accompany greater risk from COVID-19 have been sought and schizophrenia (SCZ) patients seem to present more severe C...

Background Cardiovascular disease is the leading cause of premature death among patients with rheumatoid arthritis (RA). Inflammatory cytokines play a pivotal role in this process, leading to impaired artery elasticity by priming endothelial dysfunction and enhanced arterial stiffness. Objectives To assess the expression of inflammatory cytokines...

Despite advances in biomedical research, gastric cancer remains the leading cause of morbidity and mortality worldwide due to the limited efficacy of conventional therapies. In recent decades, oncolytic viruses have emerged as a biological therapeutic alternative to cancer due to their selectivity, effectiveness, and low toxicity. However, clinical...

Background Leprosy is a chronic infectious disease caused by Mycobacterium leprae. The development of leprosy involves several factors, including the causative agent, the individual host’s immune response, environmental factors, and the genetic background of the host. Specifically, the host’s innate immune response, encoded by genes, determines the...

Background: The solute carrier family 45-member 2 (SLC45A2) gene, located on chromosome 5p13.2, is involved in melanin biosynthesis. Single-nucleotide variants (SNVs) in this gene are associated with skin, eye, and hair color variations in the population. SNVs p.L374F (C/T) and p.E272K (C/G) are additionally associated with protection against melan...

Background Our previous study reported higher mRNA levels of the human epidermal growth factor receptor 2 (HER2)-amplicon genes ERBB2 and GRB7 in estrogen receptor (ER)-positive breast cancer patients with relatively high Indigenous American (IA) ancestry from Colombia. Even though the protein expression of HER2 and GRB7 is highly correlated, they...

Genetic association studies in rheumatoid arthritis conducted in various populations have yielded heterogeneous results. The present systematic review was conducted to synthesize the results of the studies in order to establish the impact of polymorphisms in the ficolin-coding genes FCN1, FCN2, and FCN3 on the susceptibility to develop rheumatoid a...

Introducción: Los probióticos son microorganismos vivos que brindan beneficios al hués-ped mediante diversos mecanismos de acción. Han sido fuente de estudio en diversas pato-logías pediátricas, mostrando algunos resultados prometedores. Objetivo: Elaborar una revisión de la literatura sobre los mecanismos de acción y la eviden-cia actual que tie...

El cáncer de mama debe considerarse como un problema de salud pública ya que es la causa principal de muerte en mujeres en el mundo. Se conoce que es multifactorial y heterogéneo de manera que cada tumor tiene características genéticas y moleculares propias, lo cual se refleja en el comportamiento clínico, respuesta al tratamiento y pronóstico. La...

[This corrects the article DOI: 10.1055/s-0038-1636998.].

Introduction The risk of cardiovascular disease (CVD) in patients with rheumatoid arthritis (RA) is 1.5–2 times higher than the general population. The fundamental risk factor for CVD is age, related to alterations at the arterial level. The aim of the study was to compare vascular age (VA) in RA patients under a strict treat-to-target (T2T) strate...

The SLC45A2 gene, located at chromosome 5p13.2, is involved in melanin biosynthesis. Single Nucleotide Variant (SNVs) in this gene have been associated with normal variation of skin, eye and hair color in human population. Additionally, there are SNVs like L374F (C/T) and E272K (c/G) that are associated with protection against melanoma. In this pro...

Background The risk of cardiovascular disease (CVD) in patients with rheumatoid arthritis (RA) is higher than in individuals in the general population. The fundamental risk factor for CVD is age, related to alterations at the arterial level, called vascular aging reflected by arterial stiffness and endothelial dysfunction Objectives The aim of the...

Background COVID-19, rheumatoid arthritis (RA) and osteoarthrosis (OA) are diseases characterized by the secretion of cytokines related to the stimulation of the inflammatory response. Objectives To identify the differences in the cytokine and matrix metalloproteinases (MMP) profile within one acute infectious disease and two chronic inflammatory...

Introducción: El término apego en la comunidad médica es poco conocido, sin embargo, cumple un papel de gran importancia dentro del desarrollo humano ya que está involucrado en la determinación de las características psicológicas y emocionales de los infantes respecto a su personalidad y la consolidación de sus relaciones interpersonales. Objetiv...

Background/aim: Non-melanoma skin cancer is the most common cancer in the world. Somatic mutations in the TP53 gene are associated with the development of this cancer. To describe mutations in exons 5-8 of the TP53 gene in a sample of Colombian patients with non-melanoma skin cancer. Materials and methods: One hundred and fifteen patients with n...

Being an ϵ4 carrier in the Apoϵ gene has been suggested as a modifying factor for the interaction between cardio-metabolic, social risk factors, and the development of cognitive impairment. Objective: The main objective of this study was to assess the existence of such interaction in a sample of Bogota's elderly population. Methods: A cross-sec...

Objectives Genetic association studies on alopecia areata (AA) performed in various populations have shown heterogeneous results. The aim of the current review was to synthesize the results of said studies to estimate the impact of FAS, FASL, PTPN22, CTLA4 and IL2RA gene polymorphisms on AA susceptibility. Design A systematic literature search was...

El melanoma es el cáncer de piel con mayor mortalidad a nivel mundial. Se han descrito 4 subtipos principales en melanoma cutáneo; melanoma de extensión superficial, melanoma nodular, melanoma lentigo maligno y melanoma lentiginoso acral. Existen diferencias raciales en la distribución y frecuencia de éstos subtipos. En caucásicos, el riesgo es may...

Background/aim: Genetic variations of the CDKN2A and CDK4 gene have been associated to melanoma development. In the present study we investigated the potential associations of CDKN2A and CDK4 gene variants in a colombian population diagnosed with melanoma. Materials and methods: DNA was extracted from whole blood samples from 85 patients diagnos...

Introducción: la apolipoproteína E (APOE) es una glicoproteína implicada en el transporte de moléculas lipídicas. Se han descrito tres alelos del gen APOE: Ɛ2, Ɛ3 y Ɛ4. Varios estudios demuestran asociación de la isoforma APOE4 con Alzheimer de inicio tardío. Objetivos: determinar las frecuencias genotípicas y alélicas del gen APOE en una muestra d...

Candida albicans is fungus capable of changing from yeast to filamentous form when it’s transformed from a normal commensal to an opportunistic pathogen. The development of alternatives that interfere with this transition could be an effective way to reduce candidiasis. In this regard, evaluate the inhibitory effect of two Borojoa patinoi silver na...

Introduction: Melanoma is the most aggressive type of skin cancer, with poor prognosis in advanced stages. The incidence and mortality rates have increased in recent years. Single nucleotide polymorphisms p.R24P, p.M53I, p.G101W, p.V126D, and p.A148T in the CDKN2A (HGNC ID: 1787) gene have been associated with the development of melanoma in differ...

Introduction: Mutations in the BRAF, NRAS, and C-KIT genes have been associated with the histopathological characteristics of melanoma. Likewise, the incidence of each of these subtypes changes according to the geographical origin of the population analyzed. Objective: To determine the mutation frequency in exons 11 and 15 of the BRAF gene, exon...

The presence of mutations of BRAF, NRAS, and KIT genes is recognized as playing a role during carcinogenesis. Our study aims to evaluate and review other studies that present the frequency of mutations of BRAF, NRAS, and KIT genes for different populations, and analyse correlation to their clinical-pathological characteristics and to the demographi...

Objective: The aim of the present study was to determine the expression of heat shock protein 27 (Hsp 27) in patients with ovar-ian carcinoma and its relationship with clinical and histopathological characteristics. Materials and Methods: Cross-sectional study in patients diagnosed with ovarian carcinoma. From paraffin blocks with tumor material, a...

Ovarian cancer is the fifth leading cause of cancer-related deaths. It causes approximately 125,000 deaths per year worldwide; its diagnosis is made in advanced stages resulting in a high mortality rate. The objective of the study was optimizing the isolation of cells obtained from the solid tumor and ascitic fluid of patients with ovarian cancer a...

The Hutchinson-Gilford syndrome or progeria is a laminopathy generated by mutations that affect LMNA gene. This produces an abnormal protein named progerine which alters the formation of the cellular membrane inducing premature aging of all cells. In the present review aspects related to the pathophysiology and clinical characteristics of this synd...

Introduction: Papillary thyroid carcinoma is the most common endocrine neoplasm; therefore, markers with possible prognostic utility have been evaluated. Objective: To analyze the presence of RET/PTC1 rearrangement, lymphocytic thyroiditis and associated clinical features in patients with papillary thyroid cancer treated at the Hospital de San Jos...

Ovarian cancer is the fifth leading cause of cancer‐related deaths. It causes approximately 125,000 deaths per year worldwide; its diagnosis is made in advanced stages resulting in a high mortality rate. The objective of the study was optimizing the isolation of cells obtained from the solid tumor and ascitic fluid of patients with ovarian cancer a...

Multiple hereditary exostoses (MHE) is a rare disease with autosomal dominant inheritance, caused by heterozygous germline mutations in the EXT1 or EXT2 genes. This disorder is characterized by the growth of prominences surrounded by cartilage in the growth plates and the long bones. Here, we report a family affected by MHE. In this family, a patho...

Resumen Introducción La dermatitis de contacto es un motivo de consulta frecuente en Colombia, donde existe poca información sobre su epidemiología y su etiología. Objetivo Describir las características clínicas, epidemiológicas y los resultados de las pruebas epicutáneas realizadas en el Centro Dermatológico Federico Lleras Acosta de Bogotá (Col...

Background: In the last fifteen years, familiar ovarian carcinoma has been related to BRCA 1 and 2 mutations. However, 25% of new cases of ovarian neoplasm are explained by isolated genes involved in the mechanism of homologous recombination. Patients with family history of ovarian and breast carcinoma, negative for BRCA mutations and at least with...

El cáncer es una enfermedad caracterizada por la proliferación anormal de células neoplásicas, dada en esencia por alteraciones genéticas y epigenéticas. El control de las diferentes funciones celulares está dado por los genes codificados en el ADN, por lo tanto algunas alteraciones en genes que codifican para las proteínas involucradas en el ciclo...