Correlating the global increase in type 1 diabetes incidence across age groups with national economic prosperity: A systematic review

BackgroundAmong the chronic myeloproliferative neoplasms (MPNs) not associated with BCR-ABL mutations are polycythemia vera, primary myelofibrosis, and essential thrombocythemia. These diseases are caused by gene mutations, such as the JAK2, MPL, and CALR genes, which regulate the JAK-STAT signaling pathway. ObjectiveThis study aimed to establish the frequencies of mutations in the JAK2, MPL, and CALR genes in Colombian patients with a negative clinical diagnosis of BCR-ABL chronic myeloproliferative neoplasms. MethodsThe JAK2 V617F and MPL W515K mutations and deletions or insertions in exon 9 of the CALR gene were analyzed in 52 Colombian patients with polycythemia vera, primary myelofibrosis, and essential thrombocythemia. ResultsThe JAK2V617F mutation was carried by 51.9% of the patients, the CALR mutation by 23%, and the MPL mutation by 3.8%; 23% were triple-negative for the mutations analyzed. Six mutation types in CALR were identified in these neoplasms, one of which has not been previously reported. Additionally, one patient presented a double mutation in the CALR and JAK2 genes. Regarding the hematological results for the mutations, significant differences were found in the hemoglobin level, hematocrit level, and platelet count among the three neoplasms. ConclusionThus, this study demonstrates the importance of the molecular characterization of the JAK2, CALR and MPL mutations in Colombian patients (the genetic context of which remains unclear in the abovementioned neoplasms) to achieve an accurate diagnosis, a good prognosis, adequate management, and patient survival.

Background: Multiple myeloma (MM) is a genetically heterogeneous disease where specific genetic abnormalities have a significant impact on a patient’s prognosis. Diagnostic and prognostic tools like fluorescence in situ hybridization (FISH), PCR, microarrays, and next-generation sequencing (NGS) have transformed MM management. However, the effectiveness of these techniques is often limited by the low concentration of plasma cells in bone marrow samples, which makes enrichment methods necessary. This review aims to clarify how these techniques enhance the detection of genetic abnormalities, reduce false-negative results, and facilitate more precise risk stratification for MM patients. Content: Following Preferred Reporting Items for Systematic reviews and Meta-Analyses Extension for Scoping Review (PRISMA-ScR) guidelines, the literature on plasma cell separation methods used in genetic studies of MM was systematically identified and mapped. Searches were conducted in the Medline and Embase databases using a structured strategy, supplemented by manual searches on Google Scholar. Of 399 publications evaluated, 69 met the inclusion criteria; 37% utilized FISH and 19% demonstrated an increasing use of NGS. Plasma cell enrichment significantly improved diagnostic accuracy, increasing the detection rates of genetic abnormalities from 61% in non-enriched samples to 95.5% in enriched samples. While FISH remains the gold standard, emerging technologies such as NGS offer superior sensitivity and the ability to identify critical genetic alterations to refine molecular subtypes. Summary: Clinically significant genetic alterations are detected more frequently with plasma cell enrichment techniques, contributing to improved prognosis and treatment strategies for MM patients.

Epidemiological studies have consistently linked air pollution to severe health risks. One strategy to reduce the impact of combustion products from engines is adding additives to the fuel. Potential benefits have been observed in terms of performance and emissions, as well as in decreasing fuel consumption. However, the associated emission of particulate matter into the environment may have unforeseen health effects. This study examines the effects of diesel exhaust particles (DEPs) from diesel fuel mixed with amide-functionalized carbon nanotubes (CNTF). The aim is to analyze the properties of DEPs and determine their toxic effects on lung cells. The DEPs were characterized using scanning and transmission electron microscopy, while the polycyclic aromatic hydrocarbons (PAHs) were analyzed through gas chromatography. Various assays were conducted to assess cell viability, apoptosis, oxidative stress, and DNA damage. The addition of CNTF to diesel fuel altered the morphology and size of the particles, as well as the quantity and composition of PAHs. At the cellular level, diesel DEPs induce higher levels of reactive oxygen species (ROS) production, DNA damage, apoptosis, and cytotoxicity compared to both CNTF and diesel–CNTF DEPs. These findings suggest that the nano-additives enhance energy efficiency by reducing pollutants without significantly increasing cell toxicity.

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. Methods: A retrospective cohort study was conducted at Clínica Colsanitas S.A. from March 2023 to June 2024. Sequencing was performed on the NextSeq2000 platform with the TruSight Oncology 500 (TSO500) assay, which simultaneously evaluates 523 genes for DNA analysis and 55 for RNA; additionally, analyses were performed with the SOPHiA DDM software. The tumor mutational burden (TMB), microsatellite instability (MSI), and programmed cell death ligand 1 (PDL1) were assessed. Results: Among 111 patients, 103 were evaluated, with gastrointestinal (27.93%), respiratory (13.51%), and central nervous system cancers (10.81%) being the most prevalent. TP53 (37%), KMT2C (28%), and KRAS (21%) were frequent mutations. Actionable findings were detected in 76.7% of cases, notably in digestive (20 patients) and lung cancers (8 patients). MSI was stable at 82.52% and high at 2.91%, whilst TMB was predominantly low (91.26%). Conclusions: The test has facilitated access to targeted therapies, improving clinical outcomes in Colombian patients. This profiling test is expected to increase opportunities for personalized medicine in Colombia.