Neurodevelopment Genes Encoding Olduvai Domains Link Myalgic Encephalomyelitis to Neuropsychiatric Disorders.

The aetiology of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS), a chronic and severe debilitating disease with a complex phenotype, remains elusive. Associations with infectious diseases and autoimmune and neuropsychiatric disorders have been observed, without the identification of mechanisms. Previous studies suggest that genetic predisposition plays a role, but results are difficult to replicate, with Genome-Wide Association Studies of ME/CFS being challenging due to the relative rareness and heterogeneity of the disorder.

Survival Analysis in a Colombian Cohort of Mantle Cell Lymphoma. A Real-World Experience.

Mantle cell lymphoma is a type of B-cell lymphoma with limited epidemiologic data in Latin America. The main objective was evaluating survival, in mantle cell lymphoma in Colombia and the influence of hematopoietic stem cell transplantation in the outcomes. In a retrospective cohort of new diagnostic Mantle Cell Lymphoma between 2010 and 2024, we identified main characteristics at diagnosis and the influence of MIPI score and ASCT.

Predicting diabetes mellitus metabolic goals and chronic complications transitions-analysis based on natural language processing and machine learning models.

Objective: To estimate Diabetes mellitus (DM) progression at one and two years in terms of glycemic targets and development of complications.

Research Design And Methods: We analyzed a retrospective cohort of adult DM patients treated in a Health Maintenance Organization in Colombia, including those with at least one glycosylated hemoglobin (HbA1c) measurement in 2018, 2019, and 2020. We defined four disease transition stages based on metabolic goals according to HbA1c levels and complications: 1.

Epidemiology and Survival of Marginal Zone Lymphoma in Colombian Patients: An Observational Retrospective Study.

Purpose: Marginal zone lymphomas (MZLs) are indolent non-Hodgkin lymphomas, categorized into three subtypes: extranodal, splenic, and nodal MZL (NMZL). MZL epidemiology and outcomes in Latin America remain underexplored.

Materials And Methods: This retrospective cohort study included patients with MZL in Colombia from 2000 to 2023.

Interplay of Transcriptomic Regulation, Microbiota, and Signaling Pathways in Lung and Gut Inflammation-Induced Tumorigenesis.

Inflammation can positively and negatively affect tumorigenesis based on the duration, scope, and sequence of related events through the regulation of signaling pathways. A transcriptomic analysis of five pulmonary arterial hypertension, twelve Crohn's disease, and twelve ulcerative colitis high throughput sequencing datasets using R language specialized libraries and gene enrichment analyses identified a regulatory network in each inflammatory disease. IRF9 and LINC01089 in pulmonary arterial hypertension are related to the regulation of signaling pathways like MAPK, NOTCH, human papillomavirus, and hepatitis c infection.

Real-world data lipid profiles in one million colombian adults: The LiPAC million person study.

Background And Aims: Lipid profile results are of clinical interest for assessing the presence of dyslipidemia and the risk of cardiovascular disease. This study aimed to characterize lipid profile parameters in a large adult population from different regions of Colombia.

Methods: Cross-sectional study.

Advancing Cancer Care in Colombia: Results of the First In Situ Implementation of Comprehensive Genomic Profiling.

Background: Comprehensive genomic profiling (CGP) identifies genetic alterations and patterns that are crucial for therapy selection and precise treatment development. In Colombia, limited access to CGP tests underscores the necessity of documenting the prevalence of treatable genetic alterations. This study aimed to describe the somatic genetic profile of specific cancer types in Colombian patients and assess its impact on treatment selection.

Global transcriptomic network analysis of the crosstalk between microbiota and cancer-related cells in the oral-gut-lung axis.

Background: The diagnosis and treatment of lung, colon, and gastric cancer through the histologic characteristics and genomic biomarkers have not had a strong impact on the mortality rates of the top three global causes of death by cancer.

Methods: Twenty-five transcriptomic analyses (10 lung cancer, 10 gastric cancer, and 5 colon cancer datasets) followed our own bioinformatic pipeline based on the utilization of specialized libraries from the R language and DAVID´s gene enrichment analyses to identify a regulatory metafirm network of transcription factors and target genes common in every type of cancer, with experimental evidence that supports its relationship with the unlocking of cell phenotypic plasticity for the acquisition of the hallmarks of cancer during the tumoral process. The network's regulatory functional and signaling pathways might depend on the constant crosstalk with the microbiome network established in the oral-gut-lung axis.

Predicting chronic kidney disease progression with artificial intelligence.

Background: The use of tools that allow estimation of the probability of progression of chronic kidney disease (CKD) to advanced stages has not yet achieved significant practical importance in clinical setting. This study aimed to develop and validate a machine learning-based model for predicting the need for renal replacement therapy (RRT) and disease progression for patients with stage 3-5 CKD.

Methods: This was a retrospective, closed cohort, observational study.

Host Transcriptional Regulatory Genes and Microbiome Networks Crosstalk through Immune Receptors Establishing Normal and Tumor Multiomics Metafirm of the Oral-Gut-Lung Axis.

The microbiome has shown a correlation with the diet and lifestyle of each population in health and disease, the ability to communicate at the cellular level with the host through innate and adaptative immune receptors, and therefore an important role in modulating inflammatory process related to the establishment and progression of cancer. The oral cavity is one of the most important interaction windows between the human body and the environment, allowing the entry of an important number of microorganisms and their passage across the gastrointestinal tract and lungs. In this review, the contribution of the microbiome network to the establishment of systemic diseases like cancer is analyzed through their synergistic interactions and bidirectional crosstalk in the oral-gut-lung axis as well as its communication with the host cells.

Multiclass classification of breast cancer histopathology images using multilevel features of deep convolutional neural network.

Breast cancer is a common malignancy and a leading cause of cancer-related deaths in women worldwide. Its early diagnosis can significantly reduce the morbidity and mortality rates in women. To this end, histopathological diagnosis is usually followed as the gold standard approach.

Structural Protein Effects Underpinning Cognitive Developmental Delay of the p.Phe233del Mutation Modelled by Artificial Intelligence and the Hybrid Quantum Mechanics-Molecular Mechanics Framework.

A whole-exome capture and next-generation sequencing was applied to an 11 y/o patient with a clinical history of congenital hypotonia, generalized motor and cognitive neurodevelopmental delay, and severe cognitive deficit, and without any identifiable Syndromic pattern, and to her parents, we disclosed a de novo heterozygous pathogenic mutation, c.697_699del p.Phe233del (rs786204835)(ACMG classification PS2, PM1, PM2, PP5), harbored in the gene (MIM*600473) (5q31.

A Comprehensive Machine Learning Framework for the Exact Prediction of the Age of Onset in Familial and Sporadic Alzheimer's Disease.

Machine learning (ML) algorithms are widely used to develop predictive frameworks. Accurate prediction of Alzheimer's disease (AD) age of onset (ADAOO) is crucial to investigate potential treatments, follow-up, and therapeutic interventions. Although genetic and non-genetic factors affecting ADAOO were elucidated by other research groups and ours, the comprehensive and sequential application of ML to provide an exact estimation of the actual ADAOO, instead of a high-confidence-interval ADAOO that may fall, remains to be explored.

The cost of hospital care for HIV patients in Colombia: an insurer's perspective.

The aim of this study was to evaluate the cost derived from the hospitalization of people living with HIV (PLHIV) in Colombia between 2011 and 2015. This is an analysis of the direct cost of PLHIV hospitalization from the perspective of an insurer of the Colombian General Social Security System. The costs were calculated in Colombian pesos and corrected for inflation on the basis of the 2017 Consumer Price Index of the Bank of the Republic of Colombia.

Targeting Neuroplasticity, Cardiovascular, and Cognitive-Associated Genomic Variants in Familial Alzheimer's Disease.

The identification of novel genetic variants contributing to the widespread in the age of onset (AOO) of Alzheimer's disease (AD) could aid in the prognosis and/or development of new therapeutic strategies focused on early interventions. We recruited 78 individuals with AD from the Paisa genetic isolate in Antioquia, Colombia. These individuals belong to the world largest multigenerational and extended pedigree segregating AD as a consequence of a dominant fully penetrant mutation in the PSEN1 gene and exhibit an AOO ranging from the early 1930s to the late 1970s.