Colombia Medica最新文献

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Evidence-based practice in respiratory healthcare professionals in Latin America: 拉丁美洲呼吸系统保健专业人员的循证实践:
IF 1.1 4区 医学
Colombia Medica Pub Date : 2024-05-23 DOI: 10.25100/cm.v55i1.5884
Vicente Benavides, Rodrigo Torres-Castro, Guilherme A.F. Fregonezi, Vanessa Resqueti, Orlando Perez Nieto, Alejandra Cañas, Santiago Larrateguy, Guillermo Mazzucco, Jhonatan Betancourt-Peña
{"title":"Evidence-based practice in respiratory healthcare professionals in Latin America:","authors":"Vicente Benavides, Rodrigo Torres-Castro, Guilherme A.F. Fregonezi, Vanessa Resqueti, Orlando Perez Nieto, Alejandra Cañas, Santiago Larrateguy, Guillermo Mazzucco, Jhonatan Betancourt-Peña","doi":"10.25100/cm.v55i1.5884","DOIUrl":"https://doi.org/10.25100/cm.v55i1.5884","url":null,"abstract":"Background:Evidence-based practice (EBP) is a systematic approach to professional practice using the best available evidence to make informed clinical decisions in healthcare. It is necessary to measure and identify strengths and opportunities for improvement.\u0000Objective: To assess the knowledge and application of EBP in respiratory health professionals in Latin America.\u0000Methods: A cross-sectional study was conducted. The questionnaire was distributed online to health professionals in Latin American countries. Demographic data, professional characteristics, EBP training, and questionnaire responses were collected. Descriptive and inferential statistical analyses were performed.\u0000Results: A total of 448 respiratory health professionals participated in the study. Responses were obtained from 17 countries where the majority were female, with an average age of 42. Participants included physicians, physiotherapists, nurses, respiratory therapists, speech therapists, and occupational therapists. Overall scores indicated moderate to high levels of EBP knowledge and application. However, variations were observed in different dimensions. Factors such as EBP training, reading scientific articles, and professional characteristics were associated with higher scores. Barriers to implementing EBP were identified mostly related to institutional support.\u0000 Conclusions: This study provides information on the knowledge and implementation of EBP in respiratory health professionals in Latin America. Although the overall levels of knowledge and application of EBP were moderate to high, there are options for improvement, especially in addressing barriers to implementation.","PeriodicalId":50667,"journal":{"name":"Colombia Medica","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141106139","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
El hilo de Ariadna en la era de la inteligencia artificial: paralelismos entre el mito griego y las recomendaciones de WAME 人工智能时代的阿里阿德涅之线:希腊神话与 WAME 建议之间的相似之处
IF 1.1 4区 医学
Colombia Medica Pub Date : 2024-05-23 DOI: 10.25100/cm.v55i1.5957
Raúl Aguilera, Ángel Roca Videla, Héctor Fuentes-Barria, C. Yáñez-Baeza
{"title":"El hilo de Ariadna en la era de la inteligencia artificial: paralelismos entre el mito griego y las recomendaciones de WAME","authors":"Raúl Aguilera, Ángel Roca Videla, Héctor Fuentes-Barria, C. Yáñez-Baeza","doi":"10.25100/cm.v55i1.5957","DOIUrl":"https://doi.org/10.25100/cm.v55i1.5957","url":null,"abstract":"Le escribo en referencia al artículo denominado “Directrices de WAME sobre chatbots e inteligencia artificial generativa en publicaciones académicas”. Nuestro propósito es brindar un enfoque adicional, fundamentado en el conocido mito griego del Laberinto de Dédalo y el Hilo de Ariadna. En este antiguo mito, se cuenta que Dédalo creó de manera ingeniosa un laberinto desconcertante que servía como prisión para el Minotauro, un ser excepcional con características tanto humanas como de toro 2 . Ariadna, locamente enamorada de Teseo, le regala amablemente un hilo sutil antes de su valiente ingreso al laberinto para enfrentarse al Minotauro. Este hilo se convierte en el orientador de Teseo, asegurando que no se pierda en la confusión y el desorden dentro de los complicados corredores y, de igual forma, le brinda las herramientas para encontrar exitosamente la ruta de vuelta a la libertad tras terminar su arriesgada misión.\u0000El antiguo mito que se presenta aquí puede ser interpretado como una metáfora que ayuda a entender las “Directrices de WAME” en el marco de la inteligencia artificial (IA) y su aplicación en las publicaciones académicas.Es reconocido que el campo de la IA es complejo y está acompañado de dilemas éticos y prácticos, muy parecido al laberinto creado por Dédalo. En esta situación particular, las recomendaciones proporcionadas por WAME sirven como nuestro hilo conductor, similar al de Ariadna, ayudándonos a navegar a través de este entorno complejo. La primera recomendación de WAME, que excluye a los “chatbots” como autores, destaca la importancia de la responsabilidad y autoría humanas en la investigación. Esto puede compararse con la forma en que Dédalo construyó el laberinto, pero no tenía autoridad sobre lo que sucedía dentro de él. La segunda recomendación, que aboga por la transparencia en el uso de herramientas de IA, se puede comparar con el hilo que Teseo desenrolla, asegurando un proceso de investigación claro y verificable. Las demás recomendaciones enfatizan","PeriodicalId":50667,"journal":{"name":"Colombia Medica","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141105216","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Content quality and reliability of the YouTube videos about chronic prostatitis 有关慢性前列腺炎的 YouTube 视频的内容质量和可靠性
IF 1.1 4区 医学
Colombia Medica Pub Date : 2024-05-23 DOI: 10.25100/cm.v55i1.5861
M. E. Aydın
{"title":"Content quality and reliability of the YouTube videos about chronic prostatitis","authors":"M. E. Aydın","doi":"10.25100/cm.v55i1.5861","DOIUrl":"https://doi.org/10.25100/cm.v55i1.5861","url":null,"abstract":"Background: YouTube is one of the most used social media platforms for accessing health information. Objective: To evaluate the quality and reliability of YouTube videos about chronic prostatitis.\u0000Methods:YouTube search using the keywords \"kronik prostatit\" for Turkish videos and 'chronic prostatitis' for English videos were done. The videos were evaluated through modified-Quality Criteria for Consumer Health Information (DISCERN), the Journal of the American Medical Association (JAMA), the Global Quality Scale (GQS), and Video Power Index (VPI) scoring systems. The characters of the videos were also recorded and analyzed.\u0000Results: Of the 65 Turkish videos, videos of health professions (HPv) were uploaded 58 and seven videos of laypersons (Lv). There were no significant differences between the views, like counts, VPI, or the content quality and reliability of HPv and Lv. Of the 62 English videos, videos of HP were uploaded 40 and 22 videos of laypersons. Although HPv were found to have greater DISCERN and JAMA values, Lv had more views, view ratio, and Video Power Index than HPv. When all 127 videos were evaluated regardless of the language, Lv were found to have more total views and ratings, but there were no significant differences between like ratio, VPI, DISCERN, JAMA, and GQS values between the two groups.\u0000Conclusions: Most YouTube videos about chronic prostatitis did not have enough quality and reliable information. Health associations should be more attentive to posting more content videos of sufficient quality and reliability on social media platforms.","PeriodicalId":50667,"journal":{"name":"Colombia Medica","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141107281","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Artificial intelligence in scientific writing: What are the ethical boundaries? - A Reflection inspired by the myth of Prometheus. 科学写作中的人工智能:伦理界限是什么?- 受普罗米修斯神话启发的思考。
IF 0.7 4区 医学
Colombia Medica Pub Date : 2023-12-30 eCollection Date: 2023-10-01 DOI: 10.25100/cm.v54i4.5954
Raúl Alberto Aguilera-Eguía, Ángel Roco Videla, Héctor Fuentes-Barria, Cristian Yáñez-Baeza
{"title":"Artificial intelligence in scientific writing: What are the ethical boundaries? - A Reflection inspired by the myth of Prometheus.","authors":"Raúl Alberto Aguilera-Eguía, Ángel Roco Videla, Héctor Fuentes-Barria, Cristian Yáñez-Baeza","doi":"10.25100/cm.v54i4.5954","DOIUrl":"10.25100/cm.v54i4.5954","url":null,"abstract":"","PeriodicalId":50667,"journal":{"name":"Colombia Medica","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2023-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11360813/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142114424","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Proprioceptive rehabilitation strategies in posttraumatic wrist injuries. Scoping review. 腕部创伤后的知觉康复策略。范围审查。
IF 0.7 4区 医学
Colombia Medica Pub Date : 2023-12-30 eCollection Date: 2023-10-01 DOI: 10.25100/cm.v54i4.5709
Lida J Sánchez-Montoya, Diana P Sánchez, Leidy Tatiana Ordoñez-Mora
{"title":"Proprioceptive rehabilitation strategies in posttraumatic wrist injuries. Scoping review.","authors":"Lida J Sánchez-Montoya, Diana P Sánchez, Leidy Tatiana Ordoñez-Mora","doi":"10.25100/cm.v54i4.5709","DOIUrl":"10.25100/cm.v54i4.5709","url":null,"abstract":"<p><strong>Background: </strong>The proprioceptive approach can effectively improve strength, mobility, edema reduction, and pain reduction, which in turn has a positive impact on functionality.</p><p><strong>Objective: </strong>To identify proprioceptive rehabilitation strategies reported in the literature in adults with traumatic wrist injuries.</p><p><strong>Methods: </strong>A scoping review was performed following the parameters of the Prisma ScR strategy. We included research with adult patients diagnosed with posttraumatic wrist injuries who used proprioceptive rehabilitation. Pain, functionality, strength, joint mobility ranges, and edema were evaluated.</p><p><strong>Results: </strong>After removing duplicates and applying the exclusion criteria, a total of 123 articles were found, which left six articles, including 125 patients. Rehabilitation protocols based on proprioceptive neuromuscular facilitation and using sensorimotor tools that promote wrist recovery have been generated. In addition, other approaches have been established, such as motor imagery, which generates a work of identification and organization of movement, improving pain and manual function. However, longer follow-ups, standardization of the instruments used during proprioceptive intervention, and increasing the observed population are needed to generate a recommendation for early intervention and cost-benefit estimates.</p><p><strong>Conclusion: </strong>Proprioceptive rehabilitation has demonstrated benefits in the recovery of the lower limb and hip or back. However, for the rehabilitation of traumatic wrist injuries, it is research pending. Well-described data and good quality designs are needed to routinely propose this strategy in the clinic.</p>","PeriodicalId":50667,"journal":{"name":"Colombia Medica","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2023-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11360815/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142114425","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Effects of central intermittent theta-burst stimulation combined with repetitive peripheral magnetic stimulation on upper limb function in stroke patients. 中枢间歇θ-脉冲刺激结合重复外周磁刺激对中风患者上肢功能的影响。
IF 0.7 4区 医学
Colombia Medica Pub Date : 2023-12-30 eCollection Date: 2023-10-01 DOI: 10.25100/cm.v54i4.5766
Shangrong Jiang, Tingtin Han, Zhijie Zhang, Mingming Wen, Yongping Li
{"title":"Effects of central intermittent theta-burst stimulation combined with repetitive peripheral magnetic stimulation on upper limb function in stroke patients.","authors":"Shangrong Jiang, Tingtin Han, Zhijie Zhang, Mingming Wen, Yongping Li","doi":"10.25100/cm.v54i4.5766","DOIUrl":"10.25100/cm.v54i4.5766","url":null,"abstract":"<p><strong>Background: </strong>Intermittent theta-burst stimulation and repetitive peripheral magnetic stimulation can improve motor function in poststroke patients, but the therapeutic effect of this combination remains unclear.</p><p><strong>Objective: </strong>To determine the effects of central intermittent theta-burst stimulation and repetitive peripheral magnetic stimulation on upper limb function.</p><p><strong>Methods: </strong>Fifty-six subacute stroke patients were randomly assigned to three groups: the CMS (n = 18), peripheral magnetic stimulation (PMS) (n = 19) and CPS (n = 19) groups. The CMS group received intermittent theta-burst stimulation and peripheral false stimulation, while the PMS group received repetitive peripheral magnetic stimulation and central false stimulation once a day for five days a week over four weeks. The CPS group received intermittent theta-burst stimulation and repetitive peripheral magnetic stimulation simultaneously once daily for four weeks. The Fugl-Meyer Assessment, Action Research Arm Test, Modified Barthel Index and Modified Ashworth Scale evaluated outcomes before and after four weeks of treatment.</p><p><strong>Results: </strong>The motor function scores of all groups were significantly increased after treatment compared with before treatment, while the Modified Ashworth Scale score showed no significant change. There was a significant difference in the motor function score of the CPS group compared with that of the CMS and PMS groups, but there was no significant improvement in the Modified Ashworth Scale score.</p><p><strong>Conclusion: </strong>Combining the two treatment methods can improve patients' motor function and daily living abilities but cannot improve muscle tone.</p>","PeriodicalId":50667,"journal":{"name":"Colombia Medica","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2023-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11341120/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142057187","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cardiac resynchronization therapy in acute heart failure and left bundle-branch block in a real-life registry. 心脏再同步化疗法在急性心力衰竭和左束支传导阻滞中的实际应用登记。
IF 0.7 4区 医学
Colombia Medica Pub Date : 2023-12-29 eCollection Date: 2023-10-01 DOI: 10.25100/cm.v54i4.5850
Oriol Aguiló, Joan Carles Trullàs, Begoña Espinosa, Pedro López-Ayala, Víctor Gil, María Luisa López-Grima, Pablo Herrero-Puente, Javier Jacob, María Pilar López-Díez, José Manuel Garrido, Javier Millán, Alfons Aguirre, Pascual Piñera, Christian E Müller, Pere Llorens, Òscar Miro
{"title":"Cardiac resynchronization therapy in acute heart failure and left bundle-branch block in a real-life registry.","authors":"Oriol Aguiló, Joan Carles Trullàs, Begoña Espinosa, Pedro López-Ayala, Víctor Gil, María Luisa López-Grima, Pablo Herrero-Puente, Javier Jacob, María Pilar López-Díez, José Manuel Garrido, Javier Millán, Alfons Aguirre, Pascual Piñera, Christian E Müller, Pere Llorens, Òscar Miro","doi":"10.25100/cm.v54i4.5850","DOIUrl":"10.25100/cm.v54i4.5850","url":null,"abstract":"<p><strong>Objectives: </strong>To determine the prevalence, characteristics, timing of implementation and prognosis of patients with left bundle branch block (LBBB) and acute heart failure (AHF) treated with cardiac resynchronization therapy (CRT) in a real-life registry.</p><p><strong>Methods: </strong>We analysed the characteristics of patients with AHF and LBBB at the time of inclusion in the EAHFE (Epidemiology Acute Heart Failure Emergency) cohort to determine the indication for CRT, the timing of implementation and its impact on 10-year all-cause mortality.</p><p><strong>Results: </strong>729 patients with a median age of 82 years and there was a high burden of comorbidities and functional dependence. The median left-ventricle ejection fraction (LVEF) was 40%. Forty-six (6%) patients were treated with CRT at some point during follow-up, with a median time of delay for CRT implementation of 960 (IQR=1,147 days) and at least 108 more untreated patients fulfilled criteria for CRT. Patients receiving CRT were younger, had different comorbidities, less functional dependence (higher Barthel index) and lower LVEF values. The median follow-up was 5.7 years (95% CI: 5.6-5.8) and CRT was not associated with changes in 10-year mortality (adjusted HR 1.33, 95% CI: 0.72-2.48; p-value 0.4). When compared with untreated patients fulfilling criteria for CRT, very similar results were observed (adjusted HR 1.34, 95% CI: 0.67-2.68).<b></b></p><p><strong>Conclusions: </strong>CRT implementation was delayed and underused in patients with AHF and LBBB. Under these circumstances, CRT is not associated with a reduction in all-cause mortality in the long term.</p>","PeriodicalId":50667,"journal":{"name":"Colombia Medica","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2023-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11346346/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142074479","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical characterization and outcomes of a cohort of colombian patients with AL Amyloidosis. 一组哥伦比亚 AL 淀粉样变性患者的临床特征和预后。
IF 1.1 4区 医学
Colombia Medica Pub Date : 2023-09-30 eCollection Date: 2023-07-01 DOI: 10.25100/cm.v54i3.5667
Jorge Andrés Lacouture Fierro, Daniel Andrés Ribero Vargas, Juanita Sánchez Cano, Lina Maria Gaviria Jaramillo, Oliver Gerardo Perilla Suarez, Kenny Mauricio Galvez Cárdenas, Sigifredo Ospina Ospina
{"title":"Clinical characterization and outcomes of a cohort of colombian patients with AL Amyloidosis.","authors":"Jorge Andrés Lacouture Fierro, Daniel Andrés Ribero Vargas, Juanita Sánchez Cano, Lina Maria Gaviria Jaramillo, Oliver Gerardo Perilla Suarez, Kenny Mauricio Galvez Cárdenas, Sigifredo Ospina Ospina","doi":"10.25100/cm.v54i3.5667","DOIUrl":"https://doi.org/10.25100/cm.v54i3.5667","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Objective: </strong>This study aims to describe the clinical characteristics, treatments, and outcomes in Colombian patients with AL amyloidosis.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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; <i>p</i>=0.018), HDCT-ASCT had a non-significant trend towards improved overall survival (HR 0.25; 95% CI: 0.06-1.09; <i>p</i>=0.065).</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":50667,"journal":{"name":"Colombia Medica","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2023-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10723764/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138813027","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
JAK2, CALR, and MPL Mutation Profiles in Colombian patients with BCR-ABL Negative Myeloproliferative Neoplasms. 哥伦比亚 BCR-ABL 阴性骨髓增殖性肿瘤患者的 JAK2、CALR 和 MPL 基因突变概况。
IF 1.1 4区 医学
Colombia Medica Pub Date : 2023-09-30 eCollection Date: 2023-07-01 DOI: 10.25100/cm.v54i3.5353
Ana Isabel Giraldo-Rincón, Sara Naranjo Molina, Natalia Gomez-Lopera, Daniel Aguirre Acevedo, Andrea Ucroz Benavidez, Kenny Gálvez Cárdenas, Francisco Cuellar Ambrosí, Jose Domingo Torres, Sigifredo Ospina, Katherine Palacio, Lina Gaviria Jaramillo, Carlos Mario Muñeton, Gonzalo Vasquez Palacio
{"title":"JAK2, CALR, and MPL Mutation Profiles in Colombian patients with BCR-ABL Negative Myeloproliferative Neoplasms.","authors":"Ana Isabel Giraldo-Rincón, Sara Naranjo Molina, Natalia Gomez-Lopera, Daniel Aguirre Acevedo, Andrea Ucroz Benavidez, Kenny Gálvez Cárdenas, Francisco Cuellar Ambrosí, Jose Domingo Torres, Sigifredo Ospina, Katherine Palacio, Lina Gaviria Jaramillo, Carlos Mario Muñeton, Gonzalo Vasquez Palacio","doi":"10.25100/cm.v54i3.5353","DOIUrl":"10.25100/cm.v54i3.5353","url":null,"abstract":"<p><strong>Background: </strong>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 mutations in genes, such as the JAK2, MPL, and CALR genes, which participate in regulating the JAK-STAT signaling pathway.</p><p><strong>Objective: </strong>This study aimed to establish the frequencies of mutations in the JAK2, MPL, and CALR genes in a group of Colombian patients with a negative clinical diagnosis of BCR-ABL chronic myeloproliferative neoplasms.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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. In these neoplasms, 6 mutation types in CALR were identified, one of which has not been previously reported. Additionally, one patient presented a double mutation in both 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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":50667,"journal":{"name":"Colombia Medica","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2023-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10726695/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138813032","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Human intelligence for authors, reviewers and editors using artificial intelligence. 利用人工智能为作者、审稿人和编辑提供人类智能。
IF 0.7 4区 医学
Colombia Medica Pub Date : 2023-09-30 eCollection Date: 2023-07-01 DOI: 10.25100/cm.v54i3.5867
Mauricio Palacios Gomez
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