Colombia Medica

JAK2, CALR, and MPL Mutation Profiles in Colombian patients with BCR-ABL Negative Myeloproliferative Neoplasms

Ana Isabel Giraldo-Rincon — 2023-12-05

Background
Among 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.

Objective
This 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.

Methods
The 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.

Results
The 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.

Conclusion
Thus, 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.

Survival of patients living with HIV and cancer in Cali, Colombia

Luis Gabriel Parra-Lara — 2023-12-04

Background:
People living with HIV have an increased risk of cancer compared to the general population. However, with the increase in life expectancy and advances in antiretroviral therapy, the survival of patients with cancer and HIV has changed.

Objective:
To determine the survival of patients living with HIV and cancer in Cali, Colombia.

Methods:
A retrospective cohort study was conducted at the Fundación Valle del Lili, Cali, Colombia. Data from the HIV database was crossed with data from the hospital and population-based cancer registries between 2011 and 2019. Patients <18 years, limited available clinical information on the diagnosis and treatment of HIV and cancer, and non-oncological tumor diagnosis were excluded.

Results:
A total of 173 patients were included. The frequencies of AIDS-defining neoplasms were: non-Hodgkin lymphoma (42.8%), Kaposi sarcoma (27.8%), and cervical cancer (4.6%). Overall survival was 76.4% (95% CI 68.9-82.3) at five years. Poorer survival was found in patients with AIDS-defining infections (56.9% vs. 77.8%, p=0.027) and non-AIDS-defining infections (57.8% vs. 84.2%, p=0.013), while there was better survival in patients who received antiretroviral therapy (65.9% vs. 17.9%, p=0.021) and oncological treatment (66.7% vs. 35.4%, p<0.001). The presence of non-AIDS-defining infections increases the risk of dying (HR = 2.39, 95% CI 1.05-5.46, p=0.038), while oncological treatment decreases it (HR = 0.33, 95% CI 0.14-0.80, p=0.014).

Conclusions:
In people living with HIV, non-Hodgkin lymphoma and Kaposi sarcoma are the most common neoplasms. Factors such as AIDS-associated and non-AIDS-associated infections have been identified as determinants of survival. Cancer treatment seems to improve survival.

Clinimetric properties of the Perme Intensive Care Unit Mobility Score

Ricardo Kenji Nawa — 2023-12-04

Background:
The use of instruments in clinical practice with measurement properties tested is highly recommended, in order to provide adequate assessment and measurement of outcomes.

Objective:
To calculate the minimum clinically important difference (MCID) and responsiveness of the Perme Intensive Care Unit Mobility Score (Perme Score).

Methods:
This retrospective, multicentric study investigated the clinimetric properties of MCID, estimated by constructing the Receiver Operating Characteristic (ROC). Maximizing sensitivity and specificity by Youden's, the ROC curve calibration was performed by the
Hosmer and Lemeshow goodness-of-fit test. Additionally, we established the responsiveness, floor and ceiling effects, internal consistency, and predictive validity of the Perme Score.

Results:
A total of 1.200 adult patient records from four mixed general intensive care units (ICUs) were included. To analyze which difference clinically reflects a relevant evolution we calculated the area under the curve (AUC) of 0.96 (95% CI: 0.95-0.98), and the optimal cut-off value of 7.0 points was established. No substantial floor (8.8%) or ceiling effects (4.9%) were observed at ICU discharge. However, a moderate floor effect was observed at ICU admission (19.3%), in contrast to a very low incidence of ceiling effect (0.6%). The Perme Score at ICU admission was associated with hospital mortality, OR 0.86 (95% CI: 0.82-0.91), and the predictive
validity for ICU stay presented a mean ratio of 0.97 (95% CI: 0.96-0.98).

Conclusions:
Our findings support the establishment of the minimum clinically important difference and responsiveness of the Perme Score as a measure of mobility status in the ICU.

Clinical characterization and outcomes of a cohort of colombian patients with AL Amyloidosis

Jorge Andrés Lacouture Fierro — 2023-12-04

Background: Amyloid light chain (AL) amyloidosis is characterized by amyloid fibril deposition derived from monoclonal immunoglobulin light chains, resulting in multiorgan dysfunction. Limited data exist on the clinical features of AL amyloidosis.

Objective: This study aims to describe the clinical characteristics, treatments, and outcomes in Colombian patients with AL amyloidosis.

Methods: A retrospective descriptive study was conducted at three high-complexity centers in Medellín, Colombia. Adults with AL amyloidosis diagnosed between 2012 and 2022 were included. Clinical, laboratory, histological, treatment, and survival data were analyzed.

Results: The study included 63 patients. Renal involvement was most prevalent (66%), followed by cardiac involvement (61%). Multiorgan involvement occurred in 61% of patients. Amyloid deposition was most commonly detected in renal biopsy (40%). Bortezomib-based therapy was used in 68%, and 23.8% received high-dose chemotherapy with autologous hematopoietic stem cell transplantation (HDCT-ASCT). Hematological response was observed in 95% of patients with available data. Cardiac and renal organ responses were 15% and 14%, respectively. Median overall survival was 45.1 months (95% CI: 22.2-63.8).

In multivariate analysis, cardiac involvement was significantly associated with inferior overall survival (HR 3.27; 95% CI: 1.23-8.73; p=0.018), HDCT-ASCT had a non-significant trend towards improved overall survival (HR 0.25; 95% CI: 0.06-1.09; p=0.065).

Conclusions: In this study of Colombian patients with AL amyloidosis, renal involvement was more frequent than cardiac involvement. Overall survival and multiorgan involvement were consistent with data from other regions of the world. Multivariate analysis identified
cardiac involvement and HDCT-AHCT as possible prognostic factors.

Human intelligence for authors, reviewers and editors using artificial intelligence

Mauricio Palacios Gómez — 2023-12-05

We call artificial intelligence any machine that processes information with some purpose, complying with the logical rules of Turing's computation described more than 70 years ago. These machines work with instructions called algorithms, a finite and well-defined sequence of information processing implemented by automata (computers) or any digital technology to optimize a process. (2) This means that the purpose of artificial intelligence is optimization.

Optimization is the ability to do or solve something in the most efficient way possible and, in the best case, using the least amount of resources. The intended optimization is programmed and preset by humans; therefore, these technologies are tools humans create for human purposes.

The optimization capability of artificial intelligence is staggering. It is estimated that using artificial intelligence will facilitate the achievement of 134 of the 169 goals agreed in the 2030 Agenda for Sustainable Development. However, in this evaluation, it was projected that it could negatively affect the progress of 59 goals of the same agreement, being social, economic, educational, legal and gender inequality, the phenomenon most affected by artificial intelligence.

This projection shows us that it is necessary to counterbalance the development and implementation of processes mediated by artificial intelligence, to maintain reflection and question the influence of these technological tools, and, above all, to be based on human intelligence. A definition of human intelligence in the data science and artificial intelligence environment would be a collection of contextual tacit knowledge about human values, responsibility, empathy, intuition, or care for another living being that algorithms cannot describe or execute.

Chatbots, generative AI, and scholarly manuscripts

Chris Zielinski — 2023-12-04

This statement revises our earlier “WAME Recommendations on ChatGPT and Chatbots in Relation to Scholarly Publications” (January 20, 2023). The revision reflects the proliferation of chatbots and their expanding use in scholarly publishing over the last few months, as well as emerging concerns regarding lack of authenticity of content when using chatbots. These recommendations are intended to inform editors and help them develop policies for the use of chatbots in papers published in their journals. They aim to help authors and reviewers understand how best to attribute the use of chatbots in their work and to address the need for all journal editors to have access to manuscript screening tools. In this rapidly evolving field, we will continue to modify these recommendations as the software and its applications develop.