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From genomics to precision medicine in type 2 diabetes. 从基因组学到2型糖尿病的精准医学。
IF 0.6 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-01 DOI: 10.24875/GMM.M25000969
Humberto García-Ortiz, Francisco M Barajas-Olmos, Cecilia Contreras-Cubas, Angélica Martínez-Hernández, Lorena Orozco

Type 2 diabetes (T2DM) is a public health problem and the second leading cause of death in Mexico. More than 20 years after the human genome project was completed, the development of innovative technologies and methodologies to determine the genetic risk factors that predispose an individual to develop this and other pathologies, have made the implementation of genomic medicine as part of clinical practice become a reality. Although in Mexico genomic studies are still in the beginning, these have generated knowledge about the etiopathogenesis of T2DM. In this review, we will address genomic knowledge applications in clinical practice, as well as the advances in the genomics of T2DM in Mexico.

2型糖尿病(T2DM)是一个公共卫生问题,也是墨西哥第二大死亡原因。在人类基因组计划完成20多年后,创新技术和方法的发展确定了使个体易患这种疾病和其他疾病的遗传风险因素,使基因组医学作为临床实践的一部分的实施成为现实。尽管在墨西哥基因组研究仍处于起步阶段,但这些研究已经产生了关于2型糖尿病发病机制的知识。在这篇综述中,我们将讨论基因组知识在临床实践中的应用,以及墨西哥T2DM基因组学的进展。
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引用次数: 0
Relationship of nuclear and mitochondrial variants with type 2 diabetes and its microvascular comorbidities in a population of Mexican origin. 核和线粒体变异与墨西哥裔2型糖尿病及其微血管合并症的关系
IF 0.6 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-01 DOI: 10.24875/GMM.M25000979
Ricardo Muñoz-Gómez, Eduardo Domínguez-de la Cruz, Rubén Oropeza-Sánchez, Juan E Chacón-Hernández, Normand García-Hernández, Ma de Lourdes Muñoz

Type 2 diabetes mellitus (T2DM), diabetic nephropathy, retinopathy, and neuropathy represent significant public health challenges in Mexico. The multifactorial nature of these conditions, influenced by both environmental and genetic factors, underscores the complexity of their development. Therefore, it is essential to design new preventive strategies to reduce mortality rates and the substantial economic burden they impose. This review examines genetic variants associated with these pathologies, aiming to establish genetic profiles that explain predisposition in the Mexican population. An extensive search of scientific publications was conducted, selecting studies on nuclear DNA and mitochondrial DNA variants associated with these diseases in different global populations, with a focus on Mexico. Among these variants, genes with critical molecular mechanisms for disease development and progression were identified. Additionally, genetic variants unique to the Mexican population were found. Based on this review, we conclude that increasing genetic association studies is crucial to validate previously described variants and identify new ones, which could serve as molecular markers for predisposition and progression in the Mexican population.

2型糖尿病(T2DM)、糖尿病肾病、视网膜病变和神经病变是墨西哥重大的公共卫生挑战。这些疾病的多因素性质,受环境和遗传因素的影响,突出了其发展的复杂性。因此,必须设计新的预防战略,以降低死亡率及其造成的沉重经济负担。本综述研究了与这些病理相关的遗传变异,旨在建立解释墨西哥人群易感性的遗传谱。对科学出版物进行了广泛搜索,选择了全球不同人群中与这些疾病相关的核DNA和线粒体DNA变异的研究,重点是墨西哥。在这些变异中,确定了具有疾病发生和进展的关键分子机制的基因。此外,还发现了墨西哥人特有的遗传变异。基于这一综述,我们得出结论,增加遗传关联研究对于验证先前描述的变异和识别新的变异至关重要,这些变异可以作为墨西哥人群易感性和进展的分子标记。
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引用次数: 0
Efficacy comparison of single-dose thoracic epidural analgesia with morphine and erector spinae plane block for open thoracotomy analgesia. 吗啡单剂量硬膜外镇痛与竖脊肌平面阻滞用于开胸镇痛的疗效比较。
IF 0.8 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-01 DOI: 10.24875/GMM.24000404
Fatma Acil, Andaç Dedeoğlu, Okan Andıç, Zeki Korhan, Ahmet Sızlanan, Atilla Durkan, Hülya Tosun-Söner, Osman Uzundere, Sedat Kaya, Cem Kıvılcım-Kaçar, Erhan Gökçek

Backgound: Postoperative pain after thoracotomy can be severe.

Objective: To assess whether low-dose morphine-assisted thoracic epidural analgesia (TEA) reduces pain (as measured by the visual analogue scale - VAS) and opioid consumption more than erector spinae plane block (ESP) in patients after thoracotomy.

Material and methods: 140 patients scheduled for elective thoracotomy (69 with TEA and 71 with ESP) were evaluated. VAS scores, respiratory capacity, nausea, vomiting, pruritus and opioid consumption were recorded at different intervals after the operation (30 min, 2, 6, 12 and 24 hours).

Results: Patients with TEA had significantly lower VAS scores in all postoperative measurements compared to the ESP group (p < 0.001). Respiratory capacity was also higher in the TEA group (p < 0.001). Postoperative opioid consumption was lower in the TEA group (p < 0.001), although there were no differences in intraoperative consumption (p = 1).

Conclusion: Thoracic epidural analgesia with low-dose morphine improves long-term postoperative pain control compared with ESP block.

背景:开胸术后疼痛可能很严重。目的:评价低剂量吗啡辅助胸廓硬膜外镇痛(TEA)是否比直立脊柱平面阻滞(ESP)更能减轻开胸术后患者的疼痛(以视觉模拟量表VAS衡量)和阿片类药物的消耗。材料与方法:对140例择期开胸患者(TEA 69例,ESP 71例)进行评价。术后不同时间间隔(30 min、2、6、12、24 h)分别记录VAS评分、呼吸能力、恶心、呕吐、瘙痒、阿片类药物消耗情况。结果:与ESP组相比,TEA组患者术后VAS评分均显著降低(p < 0.001)。TEA组呼吸量也较高(p < 0.001)。TEA组术后阿片类药物用量较低(p < 0.001),术中用量无差异(p = 1)。结论:与ESP阻滞相比,低剂量吗啡胸段硬膜外镇痛能改善术后远期疼痛控制。
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引用次数: 0
Self-care and quality of life of medical students. 医学生的自我照顾与生活质量。
IF 0.8 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-01 DOI: 10.24875/GMM.M25001005
José L Rodríguez-Eguizabal
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引用次数: 0
Impressions about dementia in our society. 我们社会对痴呆症的印象。
IF 0.8 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-01 DOI: 10.24875/GMM.M25001030
Henry C Rivas-Sucari
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引用次数: 0
Immunization recommendations in children with acute lymphoblastic leukemia. 急性淋巴细胞白血病儿童的免疫建议。
IF 0.8 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-01 DOI: 10.24875/GMM.M25001009
Berenice Sánchez-Jara, Alfonso R Torres-Jiménez, María G Ortiz-Torres, Ángel García-Soto, Paloma R Loza-Santiaguillo, Dulce M Aguilar-Olvera, Annecy N Herver-Olivares, Emmanuel R Rodríguez-Cedeño, Ricardo Saldaña-Vargas, Dulce S Morales-González, Carolina F Cruz-García, Mario A Noya-Rodríguez, Armando García-Baltazar, Edna S Huitron-Salazar, Perla V Reynoso-Arenas, Diana G Fuentes-Santana, José F Mariano-González, Alfredo Galindo-Martínez, Abril Castillo-Aguilar, Myleeng Conde-Hernández, Ángel R Rivas-Peyrano

In Mexico, cancer is the leading cause of death from disease among children between the ages of 5 and 14, with more than 2000 deaths annually. Acute leukemia is the most common malignancy, with a prevalence of 48% and an estimated five-year overall survival rate of 45% to 73%. Correct immunization of these children is essential, although it is often not possible to carry it out during times of greatest risk. There are several types of vaccines, and their use in patients with acute lymphoblastic leukemia depends on their mechanism for generating immunity. Non-live vaccines based on toxoids, protein subunits, bacterial antigens, or immunogenic proteins obtained with recombinant technology are not contraindicated during chemotherapy. At the Pediatric Hematology Service of the La Raza National Medical Center of the Mexican Social Security Institute, we conducted a review of the vaccines available in the country, their indications, and the scientific evidence on safety and efficacy, as well as the best time to administer them during and after oncological treatment.

在墨西哥,癌症是5至14岁儿童疾病死亡的主要原因,每年有2000多人死亡。急性白血病是最常见的恶性肿瘤,患病率为48%,估计5年总生存率为45%至73%。对这些儿童进行正确的免疫接种是至关重要的,尽管在风险最大的时候往往不可能进行免疫接种。有几种类型的疫苗,它们在急性淋巴细胞白血病患者中的使用取决于它们产生免疫的机制。基于类毒素、蛋白质亚基、细菌抗原或重组技术获得的免疫原性蛋白质的非活疫苗在化疗期间不禁忌。在墨西哥社会保障研究所La Raza国家医疗中心的儿童血液学服务部门,我们对该国现有的疫苗、它们的适应症、安全性和有效性的科学证据以及肿瘤治疗期间和之后接种疫苗的最佳时间进行了审查。
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引用次数: 0
Contributions of pharmacogenetics to personalized precision therapy of diabetes and hypercholesterolemia. 药物遗传学对糖尿病和高胆固醇血症个体化精准治疗的贡献。
IF 0.6 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-01 DOI: 10.24875/GMM.M25000975
Hugo A Barrera-Saldaña, Rafael B R León-Cachón, Vanessa González-Covarrubias, Héctor E Sánchez-Ibarra, Fernando Lavalle-González

Background: Personalized medicine allows the selection of the drug and dose based on the patient's genetic information, which is imperative in the treatment of diabetes and hypercholesterolemia, diseases with high prevalence in Mexico.

Objective: To integrate pharmacogenetic and genomic research on antidiabetic and antihypercholesterolemic drugs in Mexican patients.

Material and methods: We integrated our research, relating it with similar research from national and foreign laboratories.

Results: For antidiabetic pharmacological treatments, variants in the ABCC8 and KCNJ11 genes were consistently associated with the response to sulfonylureas, while variants in the SLC47A1, SLC28A1 and ABCG2 genes explained up to 55% of the variability in the response to metformin. Regarding hypercholesterolemia, atorvastatin treatment is influenced by variants in the genes MTHFR, DRD3, GSTM3, TNFα MDR1, SLCO1BI, ABCB1, CYP2D6, CYP2B6, NAT2 and COMT.

Conclusion: Our findings highlight the need to integrate pharmacogenetics into clinical practice to achieve greater therapeu tic success in diabetes and hypercholesterolemia.

背景:个性化医疗允许根据患者的遗传信息选择药物和剂量,这在治疗糖尿病和高胆固醇血症这两种墨西哥高发疾病中是必不可少的。目的:对墨西哥患者抗糖尿病和抗高胆固醇药物进行药物遗传学和基因组学研究。材料和方法:我们整合了我们的研究,并将其与国内外实验室的类似研究联系起来。结果:对于降糖药物治疗,ABCC8和KCNJ11基因的变异始终与磺脲类药物的反应相关,而SLC47A1、SLC28A1和ABCG2基因的变异解释了二甲双胍反应中高达55%的变异性。对于高胆固醇血症,阿托伐他汀治疗受MTHFR、DRD3、GSTM3、TNFα MDR1、SLCO1BI、ABCB1、CYP2D6、CYP2B6、NAT2和COMT基因变异的影响。结论:我们的研究结果强调需要将药物遗传学纳入临床实践,以获得更大的治疗糖尿病和高胆固醇血症的成功。
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引用次数: 0
Implementation of neural networks for predicting metabolic syndrome: a multinational data study. 神经网络预测代谢综合征的实现:一项跨国数据研究。
IF 0.8 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-01 DOI: 10.24875/GMM.M25001027
Alberto Guevara-Tirado

Background: Metabolic syndrome (MS) is composed of abnormalities such as central obesity, insulin resistance, hypertension and dyslipidemia.

Objective: To implement a neural network to predict MS from cholesterol, triglycerides, high density lipoproteins (HDL), obesity and hypertension.

Material and methods: Analytical and cross-sectional study with 1878 patients from databases in Venezuela, Thailand and Indonesia. Variables such as MS, hypertension, obesity, HDL, triglycerides and total cholesterol were included. Multilayer perceptron neural networks were used, evaluated with classification tables, area under the curve (AUC) and performance metrics (sensitivity, specificity, positive and negative predictive values).

Results: The neural network showed a high capacity to predict MS, with a low percentage of incorrect predictions both in the training set (15.80%) and in the test set (18.20%). In training, the overall accuracy was 84.20%, with higher accuracy for cases without MS (88.30%) than for cases with MS (77.80%). In testing, the overall accuracy was 81.80%, also with higher accuracy for cases without MS (86.60%) than for cases with MS (74.80%). The AUC was 0.911, indicating an outstanding predictive capacity. Regarding the model performance, the sensitivity was 81.25% in training and 79.26% in testing, while the specificity reached 85.92% and 83.33%, respectively. The positive predictive value was 77.80% in training and 74.78% in testing, and the negative predictive value was 88.30% and 86.57%, respectively.

Conclusions: The multilayer perceptron neural network is an effective tool to predict MS, showing an outstanding predictive capacity.

背景:代谢综合征(Metabolic syndrome, MS)由中枢性肥胖、胰岛素抵抗、高血压和血脂异常等异常组成。目的:建立基于胆固醇、甘油三酯、高密度脂蛋白(HDL)、肥胖和高血压的神经网络预测多发性硬化症。材料和方法:对来自委内瑞拉、泰国和印度尼西亚数据库的1878例患者进行分析和横断面研究。包括多发性硬化症、高血压、肥胖、高密度脂蛋白、甘油三酯和总胆固醇等变量。使用多层感知器神经网络,用分类表、曲线下面积(AUC)和性能指标(灵敏度、特异性、阳性和阴性预测值)进行评估。结果:神经网络对MS的预测能力较高,训练集和测试集的预测错误率均较低(15.80%)。训练时,总体准确率为84.20%,其中非MS组准确率为88.30%,高于MS组(77.80%)。在检测中,总体准确率为81.80%,非MS患者的准确率为86.60%,高于MS患者的准确率(74.80%)。AUC为0.911,具有较好的预测能力。在模型性能方面,训练灵敏度为81.25%,测试灵敏度为79.26%,特异性分别为85.92%和83.33%。训练阳性率为77.80%,检验阳性率为74.78%,阴性预测值分别为88.30%和86.57%。结论:多层感知器神经网络是预测多发性硬化症的有效工具,具有较强的预测能力。
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引用次数: 0
Nutritional genomics in the Mexican population. An approach to prevent the development of obesity-associated metabolic diseases. 墨西哥人口的营养基因组学。预防肥胖相关代谢疾病发展的方法。
IF 0.6 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-01 DOI: 10.24875/GMM.M25000973
Augusto Aguilar-Salazar, Génesis K González-Quijano, M Elizabeth Tejero, Guadalupe León-Reyes

Obesity is characterized by excess body fat, metabolic dysfunction, and an increased risk of developing other chronic diseases. This review aims to describe the main molecular mechanisms involved in metabolic diseases associated with obesity and to highlight the most recent studies on Nutritional Genomics in the Mexican population. The findings show that in Mexico, multiple observational and experimental investigations have been carried out on the gene-nutrient interaction, and its effect on human health. Changes in the eating pattern towards obesogenic diets and the presence of certain genetic variants can predispose to developing obesity and other disorders. These genetic variants could have a differential impact on each ethnicity; some of them have been identified in Caucasian populations, and they have subsequently been analyzed in the Mexican population (e.g., CAPN10, apolipoproteins, and PPARs). On the contrary, there are genetic variants that are more frequent (almost exclusive) to the Mexican population, and that have been consistently associated with metabolic alterations. For example, the rs9282541-ABCA1 variant associated with lower HDL-C concentrations. These findings highlight the importance of studying these genetic variants in different populations, to establish better strategies for the prevention, prognosis and treatment of metabolic diseases.

肥胖的特点是身体脂肪过多,代谢功能紊乱,患其他慢性疾病的风险增加。这篇综述旨在描述与肥胖相关的代谢性疾病的主要分子机制,并重点介绍墨西哥人群营养基因组学的最新研究。研究结果表明,在墨西哥,对基因-营养素相互作用及其对人类健康的影响进行了多次观察和实验调查。饮食模式向致肥性饮食的改变以及某些基因变异的存在,都容易导致肥胖和其他疾病。这些基因变异可能对每个种族产生不同的影响;其中一些已在高加索人群中被发现,随后在墨西哥人群中进行了分析(例如,CAPN10、载脂蛋白和ppar)。相反,有一些遗传变异在墨西哥人群中更为常见(几乎是排他的),并且一直与代谢改变有关。例如,rs9282541-ABCA1变异与较低的HDL-C浓度相关。这些发现强调了在不同人群中研究这些遗传变异的重要性,从而为代谢性疾病的预防、预后和治疗建立更好的策略。
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引用次数: 0
Surgical and medical complications associated with mucormycosis in a tertiary hospital. 三级医院毛霉菌病的外科和内科并发症。
IF 0.8 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-01 DOI: 10.24875/GMM.M25000988
Francisco J Barrera-López, Maura E Noyola-García, Natalia G Barrera-López, Alejandra Albarrán-Sánchez

Background: Mucormycosis is an infection caused by Mucorales. Management includes surgical treatment and antifungals.

Objective: To describe the surgical and medical complications associated with mucormycosis in a third-level hospital.

Material and methods: Records of patients with mucormycosis treated between 2019 and 2022 were collected.

Results: A total of 25 patients were obtained, 17 (68%) men and 8 (32%) women. Surgical complications occurred on admission in 16% and early in 4% of cases. The most frequent medical complications were soft tissue infection on admission (84%) and late sepsis (52%). Amphotericin B deoxycholate was used in all cases, finding hypokalemia in 20 (80%), hypomagnesemia in 18 (72%), and acute kidney injury in 15 (60%).

Conclusions: The most commonly performed surgery was surgical debridement on admission (76%). Surgical complications occurred mainly on admission (16%). The most frequent medical complications were soft tissue infection on admission (84%) and late sepsis (52%). Due to the high cost of the liposomal and lipid forms of amphotericin, the use of amphotericin B deoxycholate continues to persist in our setting, which leads to a high degree of renal toxicity and hydroelectrolytic alterations.

背景:毛霉菌病是由毛霉菌引起的感染。治疗包括手术治疗和抗真菌药物。目的:了解某三级医院毛霉病的外科及内科并发症。材料与方法:收集2019 - 2022年治疗的毛霉菌病患者的记录。结果:共获得25例患者,其中男性17例(68%),女性8例(32%)。16%的病例入院时发生手术并发症,4%的病例入院早期发生手术并发症。最常见的医学并发症是入院时软组织感染(84%)和晚期败血症(52%)。所有病例均使用两性霉素B去氧胆酸盐,发现低钾血症20例(80%),低镁血症18例(72%),急性肾损伤15例(60%)。结论:最常见的手术是入院时的手术清创(76%)。手术并发症主要发生在入院时(16%)。最常见的医学并发症是入院时软组织感染(84%)和晚期败血症(52%)。由于两性霉素脂质体和脂质形式的高成本,两性霉素B脱氧胆酸盐的使用继续在我们的环境中持续存在,这导致了高度的肾毒性和水电解质改变。
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引用次数: 0
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Gaceta medica de Mexico
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