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Genetics of metabolic obesity phenotypes. 代谢性肥胖表型的遗传学。
IF 0.6 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-01 DOI: 10.24875/GMM.M25000970
Marisol Olivares-Arévalo, Hugo Villamil-Ramírez, Blanca López-Contreras, Paola León-Mimila, Teresa Villarreal-Molina, Samuel Canizales-Quinteros

Although obesity is an important risk factor for cardiometabolic diseases, not every individual with obesity shows metabolic complications, this phenotype is called metabolically healthy obesity (MHO). Several studies suggest that the distribution of body fat and its accumulation in ectopic depots, rather than overall adiposity, are important factors in defining the metabolic health of individuals with obesity. The identification of genes involved in fat accumulation, particularly in the expansion of subcutaneous adipose tissue, has contributed to better understanding the physiological mechanisms related to metabolic health. Notably, some Latin American populations have an increased susceptibility to the development of metabolic complications. In this review, we discuss the differences in the prevalence of MHO among populations, including Latin Americans, as well as some of the main genetic findings related to healthy and unhealthy metabolic phenotypes of obesity.

虽然肥胖是心脏代谢疾病的重要危险因素,但并非每个肥胖患者都表现出代谢并发症,这种表型被称为代谢健康型肥胖(MHO)。一些研究表明,体脂的分布及其在异位储存库的积累,而不是整体肥胖,是确定肥胖个体代谢健康的重要因素。识别与脂肪积累有关的基因,特别是与皮下脂肪组织的扩张有关的基因,有助于更好地理解与代谢健康相关的生理机制。值得注意的是,一些拉丁美洲人群对代谢并发症的易感性增加。在这篇综述中,我们讨论了包括拉丁美洲人在内的人群中MHO患病率的差异,以及与肥胖的健康和不健康代谢表型相关的一些主要遗传发现。
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引用次数: 0
Genomics of cardiometabolic disease: contributions of Mexican research groups. 心脏代谢疾病基因组学:墨西哥研究小组的贡献。
IF 0.6 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-01 DOI: 10.24875/GMM.24000415
Mayra Domínguez-Pérez, Leonor Jacobo-Albavera, Samuel Canizales-Quinteros, Ma Teresa Villarreal-Molina

Understanding the genetic architecture of complex disease has helped identify at risk individuals, new pathways involved in pathophysiology, and potential pharmacological targets for prevention and/or treatment. Thus, the identification of susceptibility variants of Native American or Mexican origin can potentially benefit any patient, regardless of ethnic origin. The purpose of this review is to provide an overview of the most relevant contributions of Mexican researchers to knowledge on genomics of cardiometabolic disease in the Mexican population, including ethnic-specific variants and population genomics studies, stressing the importance of evolutionary approaches in understanding complex disease. Collaborative efforts and large long-term cohort studies including genomic, multi-omic, fine phenotyping and environmental exposure data are necessary to identify the clinical relevance of these variants and how they interact with the environment, in order to apply this knowledge to personalized medicine.

了解复杂疾病的遗传结构有助于识别高危个体、病理生理学的新途径以及预防和/或治疗的潜在药理学靶点。因此,鉴定美洲原住民或墨西哥血统的易感性变异可能对任何患者都有潜在的益处,无论其种族血统如何。本综述的目的是概述墨西哥研究人员对墨西哥人群心脏代谢疾病基因组学知识的最相关贡献,包括种族特异性变异和群体基因组学研究,强调进化方法在理解复杂疾病中的重要性。协作努力和大型长期队列研究,包括基因组学、多组学、精细表型和环境暴露数据,是确定这些变异的临床相关性以及它们如何与环境相互作用的必要条件,以便将这些知识应用于个性化医疗。
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引用次数: 0
High frequency of metabolic syndrome in non-obese Maya children from México: Implications of PPARG, KCNJ1, HHEX, HNF4A, ACE (I/D), FTO and ABCA1 genetics variants. 非肥胖玛雅儿童代谢综合征的高频率:PPARG, KCNJ1, HHEX, HNF4A, ACE (I/D), FTO和ABCA1遗传变异的意义
IF 0.6 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-01 DOI: 10.24875/GMM.25000022
Barbara Peña-Espinoza, Carlos Juárez-López, Guadalupe Ortiz-López, Angéles Granados-Silvestre, Marta Menjivar

Background: Both environmental and genetic factors determine metabolic syndrome (MetS) and eventually result in metabolic diseases. MetS is a national health problem in adults and children, with a higher incidence in Indigenous than mestizo individuals.

Objective: Evaluate the association of PPARG/rs1801282, KCNJ11/rs5219, HHEX/rs1111875, HNF4A/rs1800961, ACE-I/D, FTO/rs9939609 and ABCA1/rs9282541 variants with MetS or its components in the Maya children from Yucatan.

Material and methods: A total of 508 Maya children of 9 to 13 years were recruited. We analyze the association of genetic variants with MetS in non-obese Maya children by univariate and multivariate models adjusted by sex, age, and BMI.

Results: Interestingly, the frequency of MetS in non-obese Maya children from rural and urban areas was 35% and 39%, respectively. The genotype-phenotype analysis in rural Maya children revealed that rs9282541-ABCA1 was associated with high glucose (p = 0.011); rs9939609-FTO, with high blood pressure (p = 0.048) and rs1800961-HNF4A, with high insulin and HOMA-IR (p = 0.038, p = 0.043). In urban children, I/D-ECA was associated with high blood pressure (p = 0.022); rs1111875-HHEX, with high triglycerides (p = 0.050) and rs1800961-HNF4A, with low HDL-c (p = 0.048).

Conclusions: These findings provide strong evidence of the role of the studied variants in conferring genetic susceptibility to develop MetS in non-obese Maya children from Mexico.

背景:环境和遗传因素共同决定代谢综合征(MetS)并最终导致代谢性疾病。MetS是成人和儿童的全国性健康问题,土著居民的发病率高于混血儿。目的:评价PPARG/rs1801282、KCNJ11/ rss5219、HHEX/rs1111875、HNF4A/rs1800961、ACE-I/D、FTO/rs9939609和ABCA1/rs9282541基因变体与美国Yucatan地区玛雅儿童met或其成分的相关性。材料和方法:共招募了508名9至13岁的玛雅儿童。我们通过性别、年龄和BMI调整的单变量和多变量模型分析了遗传变异与非肥胖玛雅儿童MetS的关系。有趣的是,来自农村和城市地区的非肥胖玛雅儿童的MetS频率分别为35%和39%。玛雅农村儿童的基因型-表型分析显示,rs9282541-ABCA1与高糖相关(p = 0.011);rs9939609-FTO伴高血压(p = 0.048), rs1800961-HNF4A伴高胰岛素和HOMA-IR (p = 0.038, p = 0.043)。在城市儿童中,I/D-ECA与高血压相关(p = 0.022);rs1111875-HHEX具有高甘油三酯(p = 0.050), rs1800961-HNF4A具有低HDL-c (p = 0.048)。结论:这些发现提供了强有力的证据,证明所研究的变异在赋予墨西哥非肥胖玛雅儿童发生MetS的遗传易感性方面的作用。
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引用次数: 0
The genomics of Mexicans in metabolic diseases. 墨西哥人代谢性疾病的基因组学研究。
IF 0.6 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-01 DOI: 10.24875/GMM.M25000968
Miguel Cruz, Jaime Berumen
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引用次数: 0
Artificial intelligence and ChatGPT in medicine: a good alternative? 人工智能和ChatGPT在医学上:一个好的选择?
IF 0.8 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-01 DOI: 10.24875/GMM.M25001036
Aldo Medina-Gamero, Mónica Regalado-Chamorro
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引用次数: 0
Recommendations of the National Academy of Medicine of Mexico in the face of artificial intelligence in the biomedical scenario. 墨西哥国家医学院在面对人工智能在生物医学场景中的建议。
IF 0.8 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-01 DOI: 10.24875/GMM.M25001008
Rodrigo Ramos-Zúñiga, Manuel H Ruiz de Chávez, Patricio J Santillán-Doherty, Melchor Sánchez-Mendiola, Carlos Gutiérrez-Cirlos, Raúl Carrillo-Esper

Artificial intelligence as a generic concept is present in all activities of daily life in contemporary society. In the biomedical scenario has had a particular presence, with the development of systems ranging from the generation of knowledge in medical research to applications in different areas of individual and collective health. Such is the case of new tools based AI in different modalities, in public health, diagnostics, image, medical and surgical clinical processes, as well as rehabilitation, inclusion and functional facilitation strategies. Despite being a relevant advance based on technological innovation and knowledge transfer for management and decision making, it is pertinent to consider some reasonable precautionary measures as recommendations, to evaluate the safety, efficacy and risks in a timely manner.

人工智能作为一个通用概念,存在于当代社会日常生活的方方面面。在生物医学领域,随着系统的发展,从医学研究知识的产生到个人和集体健康不同领域的应用,生物医学领域已经有了特别的存在。在公共卫生、诊断、影像、医疗和外科临床过程以及康复、包容和功能促进战略等不同模式的基于人工智能的新工具就是这种情况。尽管这是一项基于技术创新和知识转移的相关进展,以促进管理和决策,但仍有必要考虑一些合理的预防措施作为建议,以便及时评估安全性、有效性和风险。
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引用次数: 0
The medical residency exam in Peru: challenges in specialized training and opportunities for improvement. 秘鲁的住院医师考试:专业培训的挑战和改进的机会。
IF 0.8 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-01 DOI: 10.24875/GMM.M25001026
Ana M Flores-Núñez, Henry C Rivas-Sucari

The medical residency exam is an essential academic filter to access medical residency in Peru. This article examines the factors that influence the performance of applicants, from the quality of the training system to work and emotional conditions. Through a narrative review, deficiencies in supervision, infrastructure and research promotion were identified, in addition to the high prevalence of emotional exhaustion and depersonalization among applicants. Inequalities between regions and the lack of standardization in educational quality also condition the results. Structural reforms and support programs are proposed to improve the system and ensure equitable training.

住院医师考试是获得秘鲁住院医师资格的重要学术筛选。本文考察了影响应聘者表现的因素,从培训系统的质量到工作和情绪状况。通过叙述性审查,我们发现了监管、基础设施和研究促进方面的不足,以及申请人中情绪衰竭和人格解体的高患病率。地区之间的不平等和教育质量缺乏标准化也影响了结果。提出了结构改革和支持方案,以改善制度,确保公平培训。
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引用次数: 0
[Authors' reply to the letter "Guillain-Barré syndrome before and during the COVID-19 pandemic"]. [作者对 "COVID-19 大流行之前和期间的格林-巴利综合征 "一信的回复]。
IF 0.6 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-04-08 DOI: 10.24875/GMM.M24000872
Juan C López-Hernández, Javier Galnares-Olalde, Edwin S Vargas-Cañas
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引用次数: 0
[Authors' reply to the letter to the editor "Artificial intelligence and screening for visual impairment related to diabetic retinopathy and macular edema"]. [作者对致编辑的信 "人工智能与糖尿病视网膜病变和黄斑水肿相关视力损伤筛查 "的回复]。
IF 0.6 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-04-08 DOI: 10.24875/GMM.M24000873
Liliana Pérez-Peralta, David Rivera-De la-Parra, Enrique O Graue-Hernández, Sergio Hernández-Jiménez, Paloma Almeda-Valdés, Héctor Velázquez-Jurado, Aída Jiménez-Corona
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引用次数: 0
[Non-therapeutic hysterectomy in Mexican young females with intellectual disability: a problematized reality]. [墨西哥智障女青年的非治疗性子宫切除术:一个问题化的现实]。
IF 0.6 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-04-08 DOI: 10.24875/GMM.M24000879
Edith Valdez-Martínez, Horacio Márquez-González, Miguel Bedolla

Background: Non-therapeutic hysterectomy in girls and adolescents with intellectual disability (ID) is an acceptable practice, even when there is a lack of prescriptive ethical reason.

Objectives: To determine the magnitude of the practice of hysterectomy in girls and adolescents with ID, and explore the emic factors associated with this procedure.

Material and methods: Multicenter, intersectoral study with a mixed methods design.

Results: The quantitative results showed that 50 of 234 reported hysterectomies corresponded to females with ID. Average age at the time of surgery was 15 ± 2.9 years. Prophylactic abdominal hysterectomy was the most common procedure, and the justifications for it were "fertility control", "menstrual hygiene management", and "risk of sexual abuse". A qualitative analysis of 15 focus groups revealed that parents' main concern was how to manage their daughters' index disease and reproductive health; they perceived menstruation positively; they expressed their fear of dying and leaving them without support, and emphasized fertility control; none of them approved hysterectomy.

Conclusions: The bodies that define health policies need to create a new philosophy that avoids the reductionist approach of current biomedical model, which separates (in the health-disease process) our interdependence with other humans.

背景:对智障女童和青少年实施非治疗性子宫颈切除术是一种可接受的做法,即使缺乏规范性的伦理理由:确定对智障女童和青少年实施子宫切除术的规模,并探讨与该手术相关的情感因素:多中心、跨部门研究,采用混合方法设计:定量结果显示,234 例子宫切除术中有 50 例为智障女性。手术时的平均年龄为 15±2.9 岁。预防性腹部子宫切除术是最常见的手术,其理由是 "生育控制"、"月经卫生管理 "和 "性虐待风险"。对 15 个焦点小组进行的定性分析显示,父母的主要关切是如何管理女儿的指数疾病和生殖健康;他们对月经持积极态度;他们表达了对死亡和让女儿失去依靠的恐惧,并强调要控制生育;他们中没有人同意切除子宫:制定卫生政策的机构需要建立一种新的理念,避免当前生物医学模式中的还原论方法,这种方法(在健康-疾病过程中)分离了我们与其他人的相互依存关系。
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Gaceta medica de Mexico
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