Publications by authors named "Olaya M"

Introduction: Inborn errors of immunity is a diverse group of rare diseases caused by over 400 genetic mutations affecting the immune system and increasing infection susceptibility, autoimmunity, and malignancy. Hematopoietic stem cell transplantation offers a curative option for some inborn errors of immunity, with haploidentical donors providing a viable alternative when identical donors are unavailable.

Objective: To determine survival, usefulness of weekly chimerism monitoring, immune reconstitution, and complications in patients with inborn errors of immunity who underwent haploidentical hematopoietic stem cell transplantation at a reference center in Colombia.

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Introduction: Immunodeficiencies are disturbances in the immune system that can affect cell function, quantity, or both. They can be either primary, associated with genetic defects, or secondary, linked to external factors such as hemato-oncological conditions. Secondary immunodeficiencies can lead to the initiation, reactivation, or acceleration of latent, residual, or active infections, which are the leading cause of mortality.

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Background: Children born to women with hypertension during pregnancy have a two to threefold increased risk of developing cognitive disorders compared to children born to women without hypertension. However, structural changes in the central nervous system of these children remain poorly understood. We aim to compare the brain histological findings from autopsies of neonates and fetuses born to women with and without hypertension during pregnancy.

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In this cross-sectional, descriptive, and observational study conducted at Fundación Valle del Lili in Colombia, the clinical and sociodemographic characteristics of anaphylaxis were investigated in a cohort of 80 patients who sought medical care between January 2021 and December 2022. With a median age of 16 years and a notable prevalence among individuals aged below 18 years, the study revealed that 63.8% of patients had concomitant allergic diseases.

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Article Synopsis
  • Dysmorphologists face challenges due to the diverse phenotypic variability of human faces, particularly when using Next-Generation Phenotyping (NGP) tools, which are often trained on limited data.
  • To address this, the GestaltMatcher Database (GMDB) was created, compiling over 10,980 facial images from various global populations, significantly improving the representation of underrepresented ancestries, especially African and Asian patients.
  • The study found that incorporating data from non-European patients enhanced NGP accuracy by over 11% without compromising performance for European patients, highlighting the importance of diverse datasets in identifying genetic disorders.
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Article Synopsis
  • The significant phenotypic variability of human faces complicates the work of dysmorphologists by challenging Next-Generation Phenotyping (NGP) tools, especially when analyzing patients from diverse genetic backgrounds.
  • The research established the GestaltMatcher Database (GMDB), which includes over 10,000 facial images from patients with rare genetic disorders worldwide, striving to improve representation of underrepresented populations, particularly Asian and African patients.
  • The analysis showed that incorporating data from non-European patients enhanced the accuracy of NGP in diagnosing facial disorders without negatively affecting performance on European patients, emphasizing the need for more diverse datasets in medical genetics.
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Purpose: Eosinophilic esophagitis (EoE) is an immunologically mediated chronic disease of the gastrointestinal tract. The objective of this study was to clinically and demographically describe a child population with EoE diagnosed in a high-complexity hospital in Cali, Colombia.

Methods: A retrospective study was carried out.

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Multipotent mesenchymal stromal cells (MSCs) have been described as bone marrow stromal cells, which can form cartilage, bone or hematopoietic supportive stroma. In 2006, the International Society for Cell Therapy (ISCT) established a set of minimal characteristics to define MSCs. According to their criteria, these cells must express CD73, CD90 and CD105 surface markers; however, it is now known they do not represent true stemness epitopes.

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Background: Respiratory recurrent papillomatosis (RRP) is a fatal disease with no known cure. In severe RRP cases, systemic bevacizumab (SB) could be used as adjuvant therapy.

Objective: This study aims to determine the extent and type of evidence in relation to the clinical outcomes of RRP after SB treatment.

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  • Some hard ticks in Colombia can spread diseases to humans and animals, with 46 species identified in the region, including Amblyomma patinoi and others.
  • The study focused on the Cauca department, where many people live in rural areas and work in agriculture, increasing their risk of exposure to ticks.
  • During the study, 2809 ticks were collected, and a high percentage tested positive for pathogens like Anaplasma, Ehrlichia, and Rickettsia, marking the first report of these infections in ticks from this area.
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  • A new pathogenic bacterium, Ehrlichia minasensis, has been identified as infecting cattle in Colombia.
  • Borrelia theileri has also been linked to bovine borreliosis in the same region.
  • Both bacteria were detected through PCR testing and are being considered potential causes of febrile syndrome in cattle.
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Introduction: In recent decades, there has been a growing increase in the diagnosis of patients with inborn errors of the immune system, formerly known as primary immunodeficiency disorders (PIDs). Timely diagnosis remains a challenge due to low clinical suspicion and poor education on the subject. It is estimated that between 70% and 90% of these pathologies remain underdiagnosed in our environment.

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Neoadjuvant chemotherapy (NAT) in breast cancer (BC) has been used to reduce tumor burden prior to surgery. However, the impact on prognosis depends on the establishment of Pathological Complete Response (pCR), which is influenced by tumor-infiltrating lymphocyte levels and the activation of the antitumor immune response. Nonetheless, NAT can affect immune infiltration and the quality of the response.

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Background: Hemophagocytic lymphohistiocytosis (HLH) is an exaggerated inflammatory reaction secondary to a host's inadequate immune response causing a self-perpetuating loop of altered regulation. Signs and symptoms of HLH are compatible with other common diseases and are nonspecific. Underdiagnosis makes it difficult to estimate the real incidence of HLH, especially in developing countries.

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The placenta can be affected by environmental factors, such as exposure to cigarette smoke. This exposure in the fetal context is considered a risk factor for the development of short-term postnatal diseases, such as asthma. Asthma is an inflammatory disease characterized by predominant acquisition of CD4 T lymphocytes (TLs) of the Th2 type.

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The complex is an emerging opportunistic pathogen whose increased resistance to carbapenems is considered a public health problem. This is due to the loss of efficacy of beta-lactam antibiotics, which are used as the first treatment option in the management of infections caused by Gram-negative bacteria. The objective of this study was to perform the molecular characterization of 28 isolates of the complex resistant to cephalosporins and carbapenems isolated between 2011 and 2018 from five hospitals located in the municipality of Santiago de Cali, Colombia.

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Introduction: Hemophagocytic lymphohistiocytosis (HLH) is an exaggerated activation of the immune system which can be either primary (familial) or secondary. Familial hemophagocytic lymphohistiocytosis type 3 (FHL-3) is a severe immune disorder, caused by mutations in the UNC13D gene, which codes for a protein crucial to the cytotoxic function of lymphocytes.

Objective: To describe the diagnostic relevance of next-generation sequencing in the approach of a patient with suspected FHL and to demonstrate the effectiveness of bone marrow transplantation as the only curative measure.

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Background: The current literature describes the characteristics of some skin manifestations in the context of primary immunodeficiency diseases (PIDs), also known as inborn errors of the immune system. However, there are hardly any data on the epidemiological trends of skin manifestations and PIDs in Latin America (LA). We aimed to describe the characteristics of patients with skin manifestations and the diagnosis of a PID treated at a tertiary hospital in Colombia.

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Purpose: Primary hemophagocytic lymphohistiocytosis is a severe and uncommon disease affecting pediatric patients. Genetic abnormalities have been related to altered apoptosis and exaggerated inflammatory reactions. Chemoimmunotherapy and stem cell transplantation are treatment options, but transplant is the only curative treatment.

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VACTERL association (OMIM 192350) is a heterogeneous clinical condition characterized by congenital structural defects that include at least 3 of the following features: vertebral abnormalities, anal atresia, heart defects, tracheoesophageal fistula, renal malformations, and limb defects. The nonrandom occurrence of these malformations and some familial cases suggest a possible association with genetic factors such as chromosomal alterations, gene mutations, and inherited syndromes such as Fanconi anemia (FA). In this study, the clinical phenotype and its relationship with the presence of chromosomal abnormalities and FA were evaluated in 18 patients with VACTERL association.

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Background: SCID are characterized by an imbalance in cellular and humoral immunity. Enzyme ADA deficiency represents from 10% to 15% of the SCID. This generates diminished maturation of the cell precursors.

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Introduction: The European Network of Drug Allergy and the European Academy of Allergy and Clinical Immunology have classified hypersensitivity reactions induced by nonsteroidal anti-inflammatory drugs (NSAIDs) into 5 phenotypes according to the pathophysiology, clinical manifestations, number of drugs involved, and the presence of underlying diseases. This classification does not include anaphylaxis as part of NSAID cross-reactivity. The objective of this study was to characterize a group of patients with anaphylactic NSAID cross-reactivity.

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Purpose: To characterize the pediatric population with inborn errors of immunity (IEI) that was treated with hematopoietic stem cell transplantation (HSCT) in three reference centers in Colombia. What have been the characteristics and outcomes of hematopoietic stem cell transplantation in pediatric patients with inborn errors of immunity in three reference care centers in Colombia between 2007 and 2018?

Methods: We conducted an observational, retrospective cohort study in children with a diagnosis of IEI who underwent HSCT between 2007 and 2018.

Results: Forty-seven patients were identified, and 5 were re-transplanted.

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Background: adolescence is a relevant period to educate in healthy eating behaviors. For this purpose it is necessary to obtain expert opinions and reach consensus and prioritize the best methodologies available to educate adolescents on healthy eating. Methods: the Delphi method was chosen to get consensus through repeated iterations of anonymous opinions in two rounds.

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Background: The objective of this study was to assess dietary behavior among sixth- to eighth-grade students to inform the delivery and content of nutrition education.

Methods: This was a qualitative study through focus groups. Subjects were 57 adolescents 10-14 years old, 30 males and 27 females distributed in six groups.

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