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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 Q2 Medicine 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
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.Objective: To assess the knowledge and application of EBP in respiratory health professionals in Latin America.Methods: 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.Results: 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. 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.
背景:循证实践(EBP)是一种系统的专业实践方法,利用现有的最佳证据在医疗保健领域做出明智的临床决策。有必要对其进行衡量,并确定其优势和改进机会:评估拉丁美洲呼吸系统保健专业人员对 EBP 的了解和应用情况:方法:进行横断面研究。调查问卷通过网络发放给拉丁美洲国家的医疗卫生专业人员。收集了人口统计学数据、专业特点、EBP 培训和问卷答复。研究进行了描述性和推论性统计分析:共有 448 名呼吸系统卫生专业人员参与了研究。调查对象来自 17 个国家,大多数为女性,平均年龄为 42 岁。参与者包括医生、物理治疗师、护士、呼吸治疗师、语言治疗师和职业治疗师。总体得分表明,EBP 的知识和应用达到了中等至高等水平。然而,在不同的维度上也观察到了差异。EBP 培训、阅读科学文章和专业特点等因素与较高的得分有关。实施 EBP 的障碍主要与机构支持有关。结论:本研究提供了拉丁美洲呼吸健康专业人员对 EBP 的了解和实施情况。虽然 EBP 的总体知识水平和应用水平处于中等偏上水平,但仍有改进的余地,尤其是在解决实施障碍方面。
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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 Q2 Medicine Pub Date : 2024-05-23 DOI: 10.25100/cm.v55i1.5957
Raúl Aguilera, Ángel Roca Videla, Héctor Fuentes-Barria, C. Yáñez-Baeza
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.El 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
我谨就题为 "WAME 关于学术出版物中聊天机器人和生成式人工智能的指导方针 "的文章致函。我们的目的是根据众所周知的希腊神话 "代达罗斯的迷宫和阿里阿德涅的丝线 "提供一种新的方法。在这个古老的神话中,代达罗斯巧妙地创造了一个令人困惑的迷宫,作为弥诺陶洛斯的监狱,弥诺陶洛斯是一种既像人又像牛的特殊生物2 。阿里阿德涅疯狂地爱着忒修斯,在他勇敢地进入迷宫与弥诺陶洛斯对峙之前,好心地送给他一根细线。这根线成了特修斯的向导,确保他不会迷失在混乱无序的复杂走廊中,同样,也为他提供了工具,让他在完成危险的任务后成功找到回归自由的路线。这里介绍的古代神话可以解释为一个隐喻,有助于理解人工智能(AI)框架下的《WAME 指导方针》及其在学术出版物中的应用。 人们认识到,人工智能领域非常复杂,并伴随着伦理和实践困境,就像代达罗斯创建的迷宫一样。在这种特殊情况下,WAME 提出的建议就像阿里阿德涅(Ariadne)一样,帮助我们在这个复杂的环境中穿行。WAME 的第一条建议将聊天机器人排除在作者之外,强调了人类责任和作者身份在研究中的重要性。这可以比作代达罗斯建造迷宫的方式,但他对迷宫内发生的事情却没有控制权。第二项建议主张人工智能工具使用的透明度,可以比作忒修斯解开的线,确保研究过程清晰可查。其他建议强调
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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 Q2 Medicine Pub Date : 2024-05-23 DOI: 10.25100/cm.v55i1.5861
M. E. Aydın
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.Methods: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.Results: 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.Conclusions: 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.
背景:YouTube 是获取健康信息最常用的社交媒体平台之一。目的:评估 YouTube 上有关慢性前列腺炎的视频的质量和可靠性:方法:使用关键词 "kronik prostatit "搜索土耳其语视频,使用关键词 "chronic prostatitis "搜索英语视频。通过修改后的消费者健康信息质量标准(DISCERN)、《美国医学会杂志》(JAMA)、全球质量量表(GQS)和视频能力指数(VPI)评分系统对视频进行评估。此外,还对视频中的人物进行了记录和分析:在 65 个土耳其视频中,上传了 58 个卫生专业人士(HPv)的视频和 7 个非专业人士(Lv)的视频。在 62 个英语视频中,上传了 40 个卫生专业视频和 22 个非专业视频。虽然HPv的DISCERN值和JAMA值更高,但Lv的观看次数、观看比率和视频能力指数都高于HPv。在不考虑语言的情况下,对所有 127 个视频进行评估后发现,Lv 的总浏览量和评分均高于 HPv,但两组之间的同类比率、VPI、DISCERN、JAMA 和 GQS 值没有显著差异:结论:YouTube上大多数关于慢性前列腺炎的视频都没有足够优质可靠的信息。结论:YouTube 上关于慢性前列腺炎的视频大多质量不高、信息不可靠,健康协会应更加注意在社交媒体平台上发布更多质量可靠的视频内容。
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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 Q3 MEDICINE, GENERAL & INTERNAL 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
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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 Q3 MEDICINE, GENERAL & INTERNAL 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

Background: The proprioceptive approach can effectively improve strength, mobility, edema reduction, and pain reduction, which in turn has a positive impact on functionality.

Objective: To identify proprioceptive rehabilitation strategies reported in the literature in adults with traumatic wrist injuries.

Methods: 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.

Results: 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.

Conclusion: 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.

背景:本体感觉疗法可有效改善患者的力量、活动能力、减轻水肿和疼痛,从而对患者的功能产生积极影响:本体感觉方法可以有效改善力量、活动能力、减轻水肿和疼痛,进而对功能产生积极影响:确定文献中报道的针对腕部外伤成人的本体感觉康复策略:方法:根据 Prisma ScR 策略的参数进行范围审查。我们纳入了对被诊断为腕部创伤后损伤的成年患者进行本体感觉康复的研究。对疼痛、功能、力量、关节活动范围和水肿进行了评估:结果:在去除重复文章并应用排除标准后,共找到 123 篇文章,其中有 6 篇文章涉及 125 名患者。基于本体感觉神经肌肉促进和使用感觉运动工具促进腕部恢复的康复方案已经产生。此外,还建立了其他方法,如运动想象,它能产生识别和组织运动的工作,改善疼痛和手动功能。然而,需要进行更长时间的随访,对本体感觉干预过程中使用的工具进行标准化,并增加观察人群,以便为早期干预和成本效益估算提出建议:结论:本体感觉康复对下肢、髋部或背部的恢复有明显的益处。然而,对于腕部外伤的康复,还有待于研究。要在临床上常规采用这一策略,需要有详尽的数据描述和高质量的设计。
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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 Q3 MEDICINE, GENERAL & INTERNAL 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

Background: 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.

Objective: To determine the effects of central intermittent theta-burst stimulation and repetitive peripheral magnetic stimulation on upper limb function.

Methods: 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.

Results: 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.

Conclusion: Combining the two treatment methods can improve patients' motor function and daily living abilities but cannot improve muscle tone.

背景:间歇性θ-脉冲刺激和重复性外周磁刺激可以改善卒中后患者的运动功能,但这种组合的治疗效果仍不明确:目的:确定中枢间歇θ-脉冲刺激和重复外周磁刺激对上肢功能的影响:将 56 名亚急性中风患者随机分配到三组:CMS 组(18 人)、外周磁刺激组(19 人)和 CPS 组(19 人)。CMS组接受间歇性θ-脉冲刺激和外周假刺激,而PMS组接受重复性外周磁刺激和中枢假刺激,每天一次,每周五天,持续四周。CPS 组接受间歇性θ-脉冲刺激和重复性外周磁刺激,每天一次,持续四周。Fugl-Meyer 评估、行动研究手臂测试、改良 Barthel 指数和改良 Ashworth 量表对治疗四周前后的结果进行了评估:结果:与治疗前相比,治疗后各组的运动功能评分均有明显提高,而改良阿什沃斯量表评分则无明显变化。CPS组的运动功能评分与CMS组和PMS组相比有明显差异,但改良阿什沃斯量表评分没有明显改善:结论:两种治疗方法联合使用可改善患者的运动功能和日常生活能力,但不能改善肌张力。
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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 Q3 MEDICINE, GENERAL & INTERNAL 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

Objectives: 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.

Methods: 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.

Results: 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).

Conclusions: 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.

目的在一项真实的登记中确定接受心脏再同步化疗法(CRT)治疗的左束支传导阻滞(LBBB)和急性心力衰竭(AHF)患者的患病率、特征、实施时间和预后:我们分析了AHF和LBBB患者纳入EAHFE(流行病学急性心力衰竭急诊)队列时的特征,以确定CRT的适应症、实施时机及其对10年全因死亡率的影响:729名患者的中位年龄为82岁,合并症和功能依赖性较高。左心室射血分数(LVEF)中位数为 40%。46名(6%)患者在随访期间的某个阶段接受了CRT治疗,CRT实施的中位延迟时间为960天(IQR=1,147天),另有至少108名未经治疗的患者符合CRT标准。接受CRT治疗的患者更年轻,合并症不同,功能依赖性较低(巴特尔指数较高),LVEF值较低。中位随访时间为 5.7 年(95% CI:5.6-5.8 年),CRT 与 10 年死亡率的变化无关(调整后 HR 1.33,95% CI:0.72-2.48;P 值 0.4)。与符合CRT标准的未接受治疗的患者相比,结果非常相似(调整后HR为1.34,95% CI为0.67-2.68):结论:CRT在AHF和LBBB患者中延迟实施且使用不足。结论:AHF和LBBB患者延迟实施CRT且使用不足,在这种情况下,CRT与长期降低全因死亡率无关。
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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 Q2 Medicine 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

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.

背景:淀粉样轻链(AL)淀粉样变性的特征是由单克隆免疫球蛋白轻链产生的淀粉样纤维沉积,导致多器官功能障碍。有关AL淀粉样变性临床特征的数据有限:本研究旨在描述哥伦比亚 AL 淀粉样变性患者的临床特征、治疗方法和结果:在哥伦比亚麦德林市的三家高复杂性中心开展了一项回顾性描述性研究。研究纳入了2012年至2022年期间确诊的AL淀粉样变性成人患者。研究分析了临床、实验室、组织学、治疗和生存数据:研究共纳入 63 名患者。肾脏受累的比例最高(66%),其次是心脏受累(61%)。61%的患者出现多器官受累。肾活检最常发现淀粉样沉积(40%)。68%的患者接受了以硼替佐米为基础的治疗,23.8%的患者接受了大剂量化疗和自体造血干细胞移植(HDCT-ASCT)。在有数据可查的患者中,95%的患者出现了血液学反应。心脏和肾脏器官反应分别为15%和14%。中位总生存期为45.1个月(95% CI:22.2-63.8个月)。在多变量分析中,心脏受累与较差的总生存期显著相关(HR 3.27;95% CI:1.23-8.73;P=0.018),HDCT-ASCT对总生存期的改善趋势不显著(HR 0.25;95% CI:0.06-1.09;P=0.065):在这项针对哥伦比亚AL淀粉样变性患者的研究中,肾脏受累比心脏受累更为常见。总生存率和多器官受累情况与世界其他地区的数据一致。多变量分析确定心脏受累和HDCT-AHCT是可能的预后因素。
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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 Q2 Medicine 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

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 mutations in genes, such as the JAK2, MPL, and CALR genes, which participate in regulating the JAK-STAT signaling pathway.

Objective: 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.

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. 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.

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.

背景:与 BCR-ABL 基因突变无关的慢性骨髓增殖性肿瘤(MPNs)包括真性红细胞增多症、原发性骨髓纤维化和原发性血小板增多症。这些疾病是由参与调节 JAK-STAT 信号通路的 JAK2、MPL 和 CALR 等基因突变引起的:本研究旨在确定一组临床诊断为阴性 BCR-ABL 慢性骨髓增生性肿瘤的哥伦比亚患者的 JAK2、MPL 和 CALR 基因突变频率:方法:对52名患有真性红细胞增多症、原发性骨髓纤维化和原发性血小板增多症的哥伦比亚患者的JAK2 V617F和MPL W515K突变以及CALR基因第9外显子的缺失或插入进行了分析:结果:51.9%的患者携带JAK2V617F基因突变,23%的患者携带CALR基因突变,3.8%的患者携带MPL基因突变;23%的患者在所分析的基因突变中呈三阴性。在这些肿瘤中,发现了 6 种 CALR 突变类型,其中一种以前从未报道过。此外,一名患者的 CALR 和 JAK2 基因出现了双重突变。关于突变的血液学结果,三种肿瘤的血红蛋白水平、血细胞比容水平和血小板计数均存在显著差异:因此,本研究表明,对哥伦比亚患者的 JAK2、CALR 和 MPL 基因突变(上述肿瘤的遗传背景仍不清楚)进行分子鉴定对于准确诊断、良好预后、适当治疗和患者生存具有重要意义。
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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 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-09-30 eCollection Date: 2023-07-01 DOI: 10.25100/cm.v54i3.5867
Mauricio Palacios Gomez
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Colombia Medica
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