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1.
Cancers (Basel) ; 16(13)2024 Jun 25.
Artigo em Inglês | MEDLINE | ID: mdl-39001385

RESUMO

We searched for the prevalence of actionable somatic mutations in exon 2 of the KRAS gene in western Mexican patients with CRC. Tumor tissue DNA samples from 150 patients with sporadic CRC recruited at the Civil Hospital of Guadalajara were analyzed. Mutations in exon 2 of the KRAS gene were identified using Sanger sequencing, and the data were analyzed considering clinical-pathological characteristics. Variants in codon 12 (rs121913529 G>A, G>C, and G>T) and codon 13 (rs112445441 G>A) were detected in 26 patients (with a prevalence of 17%). No significant associations were found between these variants and clinical-pathological characteristics (p > 0.05). Furthermore, a comprehensive search was carried out in PubMed/NCBI and Google for the prevalence of KRAS exon 2 mutations in Latin American populations. The 17 studies included 12,604 CRC patients, with an overall prevalence of 30% (95% CI = 0.26-0.35), although the prevalence ranged from 13 to 43% across the different data sources. Determining the variation and frequency of KRAS alleles in CRC patients will enhance their potential to receive targeted treatments and contribute to the understanding of the genomic profile of CRC.

2.
J Equine Vet Sci ; 132: 104985, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38096926

RESUMO

The Costa Rican Paso Horse (CPC) is a breed developed in Costa Rica. The objectives were to estimate the genetic structure and evaluate the levels of genetic variability of the population. The genotypes of 14 microsatellites in 3654 records (2052 females and 1602 males) were analyzed. Expected (He) and observed (Ho) heterozygosity, polymorphic information content (CIP), fixation index (FIS), Shannon index, as well as Hardy-Weinberg disequilibrium (DHW) were evaluated. Kinship relationships (Rij) were estimated throughout the entire population. The effective population size (Ne) was calculated, alternating allele frequencies less than 0.05, 0.02 and 0.01. The Bayesian clustering study was carried out to infer how many lines are appropriate from the analysis of genotypes using multiple loci. The number of alleles per locus ranged from 7 to 17, with an average value of 9.6; nine loci presented DHW (P < 0.05); two loci presented negative FIS values, the same as Ho > He; the average of CIP, Ho and He was 0.254, 0.756 and 0.785, respectively. At the 12 loci where He > Ho, the differences ranged from 0.002 to 0.341 (0.036 on average). For Ne, the estimates were 201.9, 230.1, and 241.5. In the Rij, 54.86% of the estimates were in the interval of 0.01 to 77.7%. The number of lines that define the population corresponds to three, with an approximate composition of 33.1%, 32.4% and 34.5%, respectively. The CPC, as a subdivided population with DHW and a reduction in heterozygotes may be associated with possible Wahlund effects. Keywords: Wahlund effect, equines, genetic markers, synthetic breed, Hardy Weinberg.


Assuntos
Variação Genética , Masculino , Feminino , Cavalos/genética , Animais , Variação Genética/genética , Costa Rica , Teorema de Bayes , Frequência do Gene , Genótipo
3.
Rev. chil. cardiol ; 42(3): 153-160, dic. 2023. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1529982

RESUMO

Antecedentes: El Shock Cardiogénico (SC) y las Angioplastías de Alto Riesgo (AAR) están asociadas con altas tasas de mortalidad. El uso del dispositivo Impella CP podría reducir el riesgo de muerte en estos escenarios. En Chile no existen reportes evaluando el uso del dispositivo Impella CP. Objetivo: Analizar los desenlaces clínicos en pacientes que fueron sometidos al uso del dispositivo Impella CP por SC o por AAR. Métodos: Se realizó un estudio retrospectivo en 17 pacientes, los cuales representan el total de implantes realizados en el país, entre octubre 2021 y agosto 2023. Se describió las características, demográficas, procedimentales y después del implante. Se estimó la mortalidad general y se identificaron factores asociados. Resultados: La edad de los pacientes fue 69± 3,7 años y 88,2% fueron hombres. El 64,7% recibió el dispositivo por SC y 35,3% por AAR. Dentro de las comorbilidades estudiadas, la hipertensión arterial fue la más frecuente, 94,1%. Un 58,8% de los pacientes fueron revascularizados a través de la arteria radial. El 29,4% recibió el dispositivo previo a la angioplastía y 70,6% lo recibió después. El 47,1% de las angioplastías fue guiada por imágenes. En 11,8% de ellos se realizó litotricia intracoronaria y 5,9% por ablación intracoronaria. Los pacientes estuvieron 13 ±3,4 días con el soporte. La mortalidad global fue de 41,2%. Conclusiones: El uso del dispositivo Impella presentó pocas complicaciones vasculares. La mortalidad asociada con su colocación en Chile fue relativamente similar con la reportada en la literatura.


Background: Cardiogenic shock and high-risk Angioplasty are associated with a high mortality rate. Using the Impella CP device could reduce the risk of death in these scenarios. In Chile, there are no studies evaluating the use of the Impella CP device. Objective: To analyse the clinical outcomes in patients who have undergone placement of the Impella CP device for cardiogenic shock and high-risk angioplasties. Methods: A retrospective study was carried out on 17 patients, which represent the total number of implants performed in the country, between October 2021 and August 2023. The demographic, procedural and post-implant characteristics were described. Overall mortality and associated factors were identified. Results: The age was 69± 3.7 years, where 88.2% were men. 64.7% of patients received the device by SC and 35.3% by AAR. Among the comorbidities studied, arterial hypertension was the most frequent with 94.1%. 58.8% of patients were revascularized through the radial artery. 29.4% of patients received the device before angioplasty and 70.6% received it afterwards. 47.1% of angioplasties were image-guided, 11.8% had intracoronary lithotripsy, and 5.9% had intracoronary ablation. The patients spent 13 ±3.4 days with the support. Overall mortality was 41.2%. Conclusion: use of the Impella device was associated with few vascular complications. Mortality associated with use of the Impella device in Chile was similar to that previously reported in other studies.


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Choque Cardiogênico/cirurgia , Coração Auxiliar , Angioplastia/métodos , Choque Cardiogênico/mortalidade , Chile , Fatores de Risco , Estudo Multicêntrico , Medição de Risco
4.
Rev. méd. Chile ; 151(9)sept. 2023.
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1565708

RESUMO

El dolor torácico es uno de los motivos de consulta más frecuente en un servicio de urgencia. Dentro de las hipótesis diagnósticas se deben descartar las patologías de mayor gravedad: el infarto al miocardio (IM), la disección aórtica, el tromboembolismo pulmonar y el neumotórax. El escenario más frecuente es el IM debido a un accidente de placa, pero existen casos en donde la disección aórtica puede verse acompañada de un déficit de perfusión coronaria (síndrome de malaperfusión) generando un IM. Su diagnóstico es difícil, con una mayor mortalidad y complejidad quirúrgica. Presentamos el caso de un hombre de 59 años que cursó con dolor torácico y electrocardiograma con elevación del segmento ST inferior y anterior, derivado a angioplastia primaria y que en el estudio angiográfico se identifica compromiso ostial de coronarias, se sospecha una disección aórtica, confirmándose por angiotomografía computada de aorta, donde se evidencia una disección de aorta ascendente con compromiso de ambos ostium coronarios que se trató quirúrgicamente.


Chest pain is one of the most frequent reasons for consultation in the emergency department. The most severe pathologies must be quickly ruled out within the diagnostic hypotheses: myocardial infarction (MI), aortic dissection, pulmonary thromboembolism, and pneumothorax. A frequent scenario is ST elevation MI due to a plaque accident. However, there are infrequent cases of aortic dissection associated with a deficit in coronary perfusion (malperfusion syndrome) that triggers a MI. The diagnosis of a double artery is difficult, with higher mortality and surgical complexity. We present the case of a 59-year-old man who presented chest pain and an electrocardiogram with inferior and anterior ST-segment elevation who was referred for primary angioplasty. The angiographic study confirmed the presence of a coronary ostium defect and suggested aortic dissection. Computed tomography angiography confirmed the diagnosis, showing the dissection of the ascending aorta with the compromise of both coronary ostia, which was subjected to surgical treatment.

5.
Biosensors (Basel) ; 13(8)2023 Aug 17.
Artigo em Inglês | MEDLINE | ID: mdl-37622912

RESUMO

Overweight and obesity promote diabetes and heart disease onset. Triglycerides are key biomarkers for cardiovascular disease, strokes, and other health issues. Scientists have devised methods and instruments for the detection of these molecules in liquid samples. In this study, an enzymatic biosensor was developed using an Arduino-based microfluidic platform, wherein a lipolytic enzyme was immobilized on an ethylene-vinyl acetate polymer through physical adsorption. This low-cost optical biosensor employed a spectrophotometric transducer and was assessed in liquid samples to indirectly detect triglycerides and fatty acids using p-nitrophenol as an indicator. The average triglyceride level detected in the conducted experiments was 47.727 mg/dL. The biosensor exhibited a percentage of recovery of 81.12% and a variation coefficient of 0.791%. Furthermore, the biosensor demonstrated the ability to detect triglyceride levels without the need for sample dilution, ranging from 7.6741 mg/dL to 58.835 mg/dL. This study successfully developed an efficient and affordable enzymatic biosensor prototype for triglyceride and fatty acid detection. The lipolytic enzyme immobilization on the polymer substrate provided a stable and reproducible detection system, rendering this biosensor an exciting option for the detection of these molecules.


Assuntos
Microfluídica , Infarto do Miocárdio , Humanos , Adsorção , Ácidos Graxos , Polímeros
6.
Front Genet ; 14: 1037406, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37614819

RESUMO

Colorectal cancer is a complex disease resulting from the interaction of genetics, epigenetics, and environmental factors. DNA methylation is frequently found in tumor suppressor genes to promote cancer development. Several factors are associated with changes in the DNA methylation pattern, and recently, the gastrointestinal microbiota could be associated with this epigenetic change. The predominant phyla in gut microbiota are Firmicutes and Bacteroidetes; however, an enrichment of Bacteroides fragilis, Fusobacterium nucleatum, and Streptococcus bovis, among others, has been reported in colorectal cancer, although the composition could be influenced by several factors, including diet, age, sex, and cancer stage. Fusobacterium nucleatum, a gram-negative anaerobic bacillus, is mainly associated with colorectal cancer patients positive for the CpG island methylator phenotype, although hypermethylation in genes such as MLH1, CDKN2A, MTSS1, RBM38, PKD1, PTPRT, and EYA4 has also been described. Moreover, Hungatella hathewayi, a gram-positive, rod-shaped bacterium, is related to hypermethylation in SOX11, THBD, SFRP2, GATA5, ESR1, EYA4, CDX2, and APC genes. The underlying epigenetic mechanism is unclear, although it could be implicated in the regulation of DNA methyltransferases, enzymes that catalyze the transfer of a methyl group on cytosine of CpG sites. Since DNA methylation is a reversible event, changes in gut microbiota could modulate the gene expression through DNA methylation and improve the colorectal cancer prognosis.

7.
Rev. méd. Chile ; 151(7): 899-907, jul. 2023. ilus, tab
Artigo em Espanhol | LILACS | ID: biblio-1565680

RESUMO

La biopsia endomiocárdica (BEM) es un procedimiento invasivo y una herramienta diagnóstica, que en el pasado se encontraba principalmente enfocado en el seguimiento del rechazo post trasplante cardíaco. Actualmente, juega un rol importante en el diagnostico de las miocardiopatías no isquémicas. Se realiza frecuentemente por un acceso venoso para acceder al ventrículo derecho. El rendimiento diagnóstico ha mejorado con el avance del análisis anatomo-patológico. El riesgo de complicaciones, cercana al 1%, de este procedimiento en centros con experiencia puede justificarse frente al beneficio potencial de un diagnóstico y pronóstico preciso.


Endomyocardial biopsy (EMB) is an invasive procedure and a diagnostic tool used mainly on the follow-up of post-heart transplant rejection in the past years. Currently, it has an important role in the diagnosis of non-ischemic cardiomyopathies. EMB is frequently performed through a venous access to enter the right ventricle. Diagnostic performance has improved with advances in pathology analysis. Its complications risk, close to 1% in high-volume interventional centers, can be justified considering the potential benefit of an accurate diagnosis and prognosis.


Assuntos
Humanos , Miocárdio/patologia , Biópsia/efeitos adversos , Biópsia/métodos , Transplante de Coração , Endocárdio/patologia , Cardiomiopatias/patologia
8.
Biomedica ; 43(1): 61-68, 2023 03 30.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-37167463

RESUMO

Introduction: Periodontitis is an inflammatory disease that affects the supporting tissues of teeth, the effects of excess of nitric oxide, may contribute to the symptoms of periodontitis. Objective: To determine the serum nitric oxide concentration in generalized chronic and aggressive periodontitis patients and to compare it with a healthy subject group from the Mexican population. Materials and methods: A case and control study was performed. Sixty-nine individuals were recruited from the Clínica de Posgrado de Periodoncia of the Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, México. Patients with clinical features of generalized chronic periodontitis (GCP group, n=19), generalized aggressive periodontitis (GAP group, n=11), and a group of healthy subjects (HS group, n=39) were included in the study. Informed consent was obtained from each subject, and serum nitric oxide concentration was measured by an enzyme-linked immunosorbent assay. Results: Nitric oxide concentration in the study groups was greater in the GCP group (462.57 ± 16.57 µmol/L) than in the GAP group (433.84 ± 18.61 µmol/L) and the HS group (422.46 ± 12.07 µmol/L). A comparison using Student's t-test (one-tailed) between healthy subjects and generalized chronic periodontitis showed borderline significance (p<0.04), whereas no significant differences were observed in HS and GAP groups, with a p-value of 0.64, and the GAP vs. GCP p-value was 0.33. Conclusion: The serum nitric oxide concentration observed in the present study suggests that nitric oxide plays a major role in the inflammatory process, which cannot necessarily be linked to the severity of the disease and periodontal tissue destruction.


Introducción. La periodontitis es una enfermedad inflamatoria que afecta los tejidos de soporte dental; los efectos del exceso de óxido nítrico pueden contribuir a los síntomas de la periodontitis. Objetivo. Determinar la concentración de óxido nítrico en el suero de los pacientes con periodontitis agresiva y crónica generalizada, y compararla con la de individuos sanos de población mexicana. Materiales y métodos. Se trata de un estudio de casos y controles. Se incluyeron 69 individuos de la Clínica de Posgrado de Periodoncia del Centro Universitario de Ciencias de la Salud de la Universidad de Guadalajara. Se dividieron en tres grupos: pacientes con periodontitis crónica generalizada (GCP, n=19), pacientes con periodontitis agresiva generalizada (GAP, n=11) e individuos sanos periodontalmente (HS, n=39). Se obtuvo el consentimiento informado de todos los participantes. Se utililizó la prueba ELISA para medir la concentración de óxido nítrico en suero. Resultados. Las concentraciones de óxido nítrico observadas fueron mayores en el grupo GCP (462,57 ± 16,57 µmol/L) que en los grupos GAP (433,84 ± 18,61 µmol/L) y HS (422,46 ± 12,07 µmol/L). La comparación entre HS y GCP mediante la prueba estadística t de Student (una cola), mostró diferencias significativas (p<0,04), y no se observaron diferencias entre los grupos HS y GAP (p=0,64), ni entre GAP y GCP (p=0,33). Conclusiones. La concentración de óxido nítrico en suero, observada en el presente estudio, sugiere que el óxido nítrico desempeña un importante papel en el proceso inflamatorio, lo que no necesariamente está ligado a la gravedad de la enfermedad ni a la destrucción del tejido periodontal.

9.
Biomédica (Bogotá) ; 43(1): 61-68, mar. 2023. tab
Artigo em Inglês | LILACS | ID: biblio-1533920

RESUMO

Introduction: Periodontitis is an inflammatory disease that affects the supporting tissues of teeth, the effects of excess of nitric oxide, may contribute to the symptoms of periodontitis. Objective: To determine the serum nitric oxide concentration in generalized chronic and aggressive periodontitis patients and to compare it with a healthy subject group from the Mexican population. Materials and methods: A case and control study was performed. Sixty-nine individuals were recruited from the Clínica de Posgrado de Periodoncia of the Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, México. Patients with clinical features of generalized chronic periodontitis (GCP group, n=19), generalized aggressive periodontitis (GAP group, n=11), and a group of healthy subjects (HS group, n=39) were included in the study. Informed consent was obtained from each subject, and serum nitric oxide concentration was measured by an enzyme-linked immunosorbent assay. Results: Nitric oxide concentration in the study groups was greater in the GCP group (462.57 ± 16.57 µmol/L) than in the GAP group (433.84 ± 18.61 µmol/L) and the HS group (422.46 ± 12.07 µmol/L). A comparison using Student's t-test (one-tailed) between healthy subjects and generalized chronic periodontitis showed borderline significance (p<0.04), whereas no significant differences were observed in HS and GAP groups, with a p-value of 0.64, and the GAP vs. GCP p-value was 0.33. Conclusion: The serum nitric oxide concentration observed in the present study suggests that nitric oxide plays a major role in the inflammatory process, which cannot necessarily be linked to the severity of the disease and periodontal tissue destruction.


Introducción. La periodontitis es una enfermedad inflamatoria que afecta los tejidos de soporte dental; los efectos del exceso de óxido nítrico pueden contribuir a los síntomas de la periodontitis. Objetivo. Determinar la concentración de óxido nítrico en el suero de los pacientes con periodontitis agresiva y crónica generalizada, y compararla con la de individuos sanos de población mexicana. Materiales y métodos. Se trata de un estudio de casos y controles. Se incluyeron 69 individuos de la Clínica de Posgrado de Periodoncia del Centro Universitario de Ciencias de la Salud de la Universidad de Guadalajara. Se dividieron en tres grupos: pacientes con periodontitis crónica generalizada (GCP, n=19), pacientes con periodontitis agresiva generalizada (GAP, n=11) e individuos sanos periodontalmente (HS, n=39). Se obtuvo el consentimiento informado de todos los participantes. Se utililizó la prueba ELISA para medir la concentración de óxido nítrico en suero. Resultados. Las concentraciones de óxido nítrico observadas fueron mayores en el grupo GCP (462,57 ± 16,57 µmol/L) que en los grupos GAP (433,84 ± 18,61 µmol/L) y HS (422,46 ± 12,07 µmol/L). La comparación entre HS y GCP mediante la prueba estadística t de Student (una cola), mostró diferencias significativas (p<0,04), y no se observaron diferencias entre los grupos HS y GAP (p=0,64), ni entre GAP y GCP (p=0,33). Conclusiones. La concentración de óxido nítrico en suero, observada en el presente estudio, sugiere que el óxido nítrico desempeña un importante papel en el proceso inflamatorio, lo que no necesariamente está ligado a la gravedad de la enfermedad ni a la destrucción del tejido periodontal.


Assuntos
Periodontite , Óxido Nítrico , Periodontite Agressiva , Perda do Osso Alveolar , Periodontite Crônica
10.
Rev. invest. clín ; 75(1): 37-44, Jan.-Feb. 2023. tab
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1450101

RESUMO

ABSTRACT Background Reduced or null expression of E-cadherin protein is a frequent cause of diffuse gastric cancer (DGC). More than 50% of patients with DGC present somatic variants in CDH1 gene. Objectives The objectives of this study were to study E-cadherin expression and identify variants in the CDH1 gene in gastric tumors of patients with DGC. Methods We studied 18 Mexican DGC patients who attended a hospital of the Mexican Social Security Institute; E-cadherin expression was determined by immunohistochemistry, and variants were identified by Sanger sequencing in promoter and coding regions. Predictive analysis was performed using PolyPhen-2 and HOPE software. Results We found that 56% of DGC patients showed reduced expression of E-cadherin. All patients carried CDH1 variants; overall, 12 different CDH1 variants were identified. Predictive analysis revealed that the rs114265540 variant was probably damaging, with a value of 0.985, indicating a functional impact on the E-cadherin protein. Variants rs34939176 and rs33964119 were identified as risk factors for DGC (odds' ratios [OR] = 31.3, 95% CI 6.3-154.0, p < 0.001; OR = 6.1, 95% CI 2.0-19.0, p < 0.001, respectively) given their elevated frequency and by comparing it with those reported for MXL population in the 1000 Genomes Project database. Conclusions In this Mexican population, the percentage of diffuse gastric tumors with reduced expression of E-cadherin was similar to that reported in other populations. All gastric tumors of DGC patients studied had somatic CDH1 gene variants; however, the rs114265540, rs34939176, and rs33964119 variants were importantly related to DGC.

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