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OBJECTIVE: To examine whether objective sleep parameters are associated with cognitive function (CF) in patients with major depressive disorder (MDD) with chronic insomnia (CI) and whether the severity of these disorders is related to CF. METHOD: Thirty patients with MDD with CI attending a tertiary care institution underwent two consecutive nights of polysomnographic (PSG) recording and a battery of neuropsychological tests, which included episodic memory, sustained attention, working memory, and executive function. The severity of MDD and CI was assessed by clinical scales. We examined the relationship between PSG parameters and CF, as well as whether the severity of the disorders is related to CF. RESULTS: Linear regression analysis revealed that total sleep time (TST) was positively associated with higher learning and recall of episodic memory, as well as better attention. Slow-wave sleep (SWS) showed a positive association with better working memory. Furthermore, wake after sleep onset (WASO) was negatively associated with episodic memory and lower attention. No significant relationships were found between the severity of MDD or CI with CF. CONCLUSION: Both sleep duration and depth are positively associated with several aspects of CF in patients with MDD with CI. Conversely, a lack of sleep maintenance is negatively related to CF in these patients. These findings could help identify modifiable therapeutic targets to reduce CF impairment.
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Cognición , Trastorno Depresivo Mayor , Polisomnografía , Trastornos del Inicio y del Mantenimiento del Sueño , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Atención , Trastorno Depresivo Mayor/complicaciones , Trastorno Depresivo Mayor/fisiopatología , Trastorno Depresivo Mayor/psicología , Memoria Episódica , Memoria a Corto Plazo , Gravedad del Paciente , Trastornos del Inicio y del Mantenimiento del Sueño/complicaciones , Trastornos del Inicio y del Mantenimiento del Sueño/fisiopatología , Trastornos del Inicio y del Mantenimiento del Sueño/psicología , Pruebas NeuropsicológicasRESUMEN
This study focuses on the role of AI in shaping Generation Z's consumer behaviors across fashion, technology, beauty, and education sectors. Analyzing responses from 224 participants, our findings reveal that AI exposure, attitude toward AI, and AI accuracy perception significantly enhance brand trust, which in turn positively impacts purchasing decisions. Notably, flow experience acts as a mediator between brand trust and purchasing decisions. These insights underscore the critical role of AI in developing brand trust and influencing purchasing choices among Generation Z, offering valuable implications for marketers in an increasingly digital landscape.
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Introducción: Se ha descrito que, a nivel medular, el SARS-COV2 puede comprometer la hematopoyesis, manifestándose con citopenias y solo se cuenta con estudios realizados en autopsias. Objetivo: describir las características morfológicas de las médulas óseas de los pacientes hospitalizados por neumonía por COVID-19 en el Hospital Nacional "Dos de Mayo". Material y métodos: Estudio observacional transversal retrospectivo llevado a cabo en pacientes mayores de 18 años con diagnóstico confirmado de COVID-19 mediante prueba rápida o molecular y se excluyeron a aquellos con historia clínica incompleta, ilegible o extraviada y/o neumonía bacteriana o fúngica. Los hallazgos de las lecturas de las médulas óseas fueron confirmados por un hematólogo entrenado, recabándose datos como: Hemosiderina, celularidad, relación mielo/eritroide, serie mieloide, megacariocítica y células plasmáticas. Se utilizó estadística descriptiva basada en frecuencias y porcentajes para las variables cualitativas y media y desviación estándar para las variables cuantitativas. Resultados: Se incluyeron a un total de 30 pacientes. Los hallazgos medulares más frecuentes fueron: macrófagos con citofagocitosis 87% (n=26), hiperplasia con detención en la maduración de los progenitores mieloides en el 70% (n=21). El 87% (n=26) de las muestras presentó eosinofilia. En el 57% (n=17) de las muestras se observó ninguna o poca evidencia de formación plaquetaria. En el 40% (n=12) se encontró 6% de células plasmáticas. Conclusión: Los pacientes con infección por SARS-COV2, presentan alteraciones medulares entre los que destacan: la citofagocitosis con hiperplasia y detención de la maduración en la serie mieloide, poca o nula producción plaquetaria en los megacariocitos y eosinofilia.
Background: At the spinal level, SARS-CoV2 can compromise hematopoiesis, manifesting itself with cytopenias and there are only studies carried out in autopsies. Objective: to describe the morphological characteristics of the bone marrow of patients hospitalized for pneumonia due toCOVID-19 at the Hospital Nacional "Dos de Mayo". The study: Retrospective cross-sectional study carried out in patients diagnosed with COVID-19. The bone marrow readings were confirmed by atrained hematologist. Descriptive statistics were used for the quantitative and qualitative variables. Findings: 30 patients were included. The most frequent findings were: macrophages with cytophagocytosis (87%), hyperplasia with arrest in the maturation of myeloid progenitors (70%). 87% of the samples presented eosinophilia. Little or no evidence of platelet formation was observed in 57% of the samples. In 40%, 6% of plasma cells were found. Conclusion: SARS-CoV2 infection can generate spinal cord disorders.
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Abstract Background: Patients with familial erythrocytosis type 2 have no increased risk of von Hippel-Lindau-associated tumors, although mutations in the VHL gene cause both pathologies. Case report: We present a case of a compound heterozygote patient with von Hippel-Lindau disease and familial erythrocytosis type 2. One of the mutations found in our patient, c.416C>G (p.Ser139Cys) of the VHL gene, has not been previously reported. This case is the second one reported where von Hippel-Lindau disease and familial erythrocytosis type 2 coexist in the same individual. Conclusions: Despite the low frequency of familial erythrocytosis type 2 in patients with von Hippel-Lindau disease, the possibility of this diagnosis should be considered to avoid unnecessary invasive studies to explain the polyglobulia in these patients and guarantee an adequate follow-up and vigilance of both diseases.
Resumen Introducción: Los pacientes con eritrocitosis familiar tipo 2 no muestran un riesgo incrementado de desarrollar tumores asociados con la enfermedad de von Hippel-Lindau, a pesar de que ambas afecciones están causadas por variantes patogénicas en el gen VHL. Caso clínico: Se presenta el caso de un paciente heterocigoto compuesto con enfermedad de von Hippel-Lindau y eritrocitosis familiar tipo 2. Una de las variantes patogénicas en el paciente, VHL c.416C>G (p.Ser139Cys), no ha sido previamente reportada. Este es el segundo reporte de caso en que la enfermedad de von Hippel-Lindau y la eritrocitosis familiar tipo 2 coexisten en el mismo individuo. Conclusiones: A pesar de la baja frecuencia de la eritrocitosis familiar tipo 2 en pacientes con enfermedad de von Hippel-Lindau, la posibilidad del diagnóstico debe considerarse con el fin de evitar estudios invasivos innecesarios para explicar la presencia de poliglobulia en estos pacientes y para garantizar un adecuado seguimiento y una correcta vigilancia de ambas enfermedades.
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Brain atrophy is correlated with risk of cognitive impairment, functional decline, and dementia. Despite a high infectious disease burden, Tsimane forager-horticulturists of Bolivia have the lowest prevalence of coronary atherosclerosis of any studied population and present few cardiovascular disease (CVD) risk factors despite a high burden of infections and therefore inflammation. This study (a) examines the statistical association between brain volume (BV) and age for Tsimane and (b) compares this association to that of 3 industrialized populations in the United States and Europe. This cohort-based panel study enrolled 746 participants aged 40-94 (396 males), from whom computed tomography (CT) head scans were acquired. BV and intracranial volume (ICV) were calculated from automatic head CT segmentations. The linear regression coefficient estimate ß^T of the Tsimane (T), describing the relationship between age (predictor) and BV (response, as a percentage of ICV), was calculated for the pooled sample (including both sexes) and for each sex. ß^T was compared to the corresponding regression coefficient estimate ß^R of samples from the industrialized reference (R) countries. For all comparisons, the null hypothesis ßâT = ßâR was rejected both for the combined samples of males and females, as well as separately for each sex. Our results indicate that the Tsimane exhibit a significantly slower decrease in BV with age than populations in the United States and Europe. Such reduced rates of BV decrease, together with a subsistence lifestyle and low CVD risk, may protect brain health despite considerable chronic inflammation related to infectious burden.
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Encéfalo , Enfermedad de la Arteria Coronaria , Inflamación/etnología , Estilo de Vida , Adulto , Anciano , Anciano de 80 o más Años , Bolivia/epidemiología , Encéfalo/diagnóstico por imagen , Enfermedad de la Arteria Coronaria/etnología , Femenino , Humanos , Pueblos Indígenas , Masculino , Persona de Mediana Edad , Tamaño de los Órganos , América del Sur/epidemiologíaRESUMEN
BACKGROUND: Patients with familial erythrocytosis type 2 have no increased risk of von Hippel-Lindau-associated tumors, although mutations in the VHL gene cause both pathologies. CASE REPORT: We present a case of a compound heterozygote patient with von Hippel-Lindau disease and familial erythrocytosis type 2. One of the mutations found in our patient, c.416C>G (p.Ser139Cys) of the VHL gene, has not been previously reported. This case is the second one reported where von Hippel-Lindau disease and familial erythrocytosis type 2 coexist in the same individual. CONCLUSIONS: Despite the low frequency of familial erythrocytosis type 2 in patients with von Hippel-Lindau disease, the possibility of this diagnosis should be considered to avoid unnecessary invasive studies to explain the polyglobulia in these patients and guarantee an adequate follow-up and vigilance of both diseases.
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Policitemia , Enfermedad de von Hippel-Lindau , Niño , Humanos , Mutación , Policitemia/congénito , Policitemia/diagnóstico , Policitemia/genética , Proteína Supresora de Tumores del Síndrome de Von Hippel-Lindau/genética , Enfermedad de von Hippel-Lindau/diagnóstico , Enfermedad de von Hippel-Lindau/genéticaRESUMEN
PURPOSE: It has been proposed that the cardiovascular effects of obesity are related to epicardial adipose tissue (EAT), which seems to play an active role on the development and calcification of atherosclerotic plaques, but the mechanisms are still unknown. Therefore, the aim of this study was to determine whether the EAT expresses the genes of calcifying factors and whether such expression is associated with the body mass index (BMI) and with the presence of coronary artery calcium (CAC) in patients with coronary artery disease (CAD). PATIENTS AND METHODS: Forty-three patients with CAD were enrolled specifically for this study, and their CAC score and EAT volume were determined by computed tomography. As the group of comparison, 41 patients with aortic valve stenosis and CAC = 0 were included (control group). A representative subgroup of 16 CAD patients and 23 controls were selected to obtain EAT biopsies during the chirurgical procedure from the atrio-interventricular groove. The mRNA expression of bone morphogenetic protein-2 and -4 (BMP-2, BMP-4), osteopontin (OPN), osteonectin (ON), and osteoprotegerin (OPG) in EAT was determined by qPCR. RESULTS: The gene expression of OPN and BMP-2 was 70% and 52% higher in the EAT from CAD patients than that in controls, respectively, whereas the expression of OPG, ON, and BMP-4 was similar in both groups. The EAT volume positively correlated with OPG and with the BMI, suggesting a relationship of obesity with local higher expression of calcifying genes in the coronary territory. The logistic regression analysis showed that high levels of both OPN and BMP-2 increased about 6 and 8 times the odds of coronary calcification (CAC score > 0), respectively. CONCLUSION: EAT correlated with BMI and expressed the mRNA of calcifying genes but only OPN and BMP-2 expression was higher in CAD patients. Higher levels of both OPN and BMP-2 statistically determined the presence of calcium in coronary arteries of CAD patients.
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BACKGROUND: Previous studies suggest a relationship of the epicardial adipose tissue (EAT) with progression and calcification of the atherosclerotic plaque; however, it is unknown if this tissue expresses genes that may participate on these processes and if the expression of these genes is regulated by high-density lipoprotein (HDL) subclasses. METHODS: To explore this possibility, we determined the mRNA expression by qPCR of a pro-calcifying gene (osteopontin (OPN)), and two anti-calcifying genes (osteoprotegerin (OPG) and osteonectin (ON)), in biopsies of EAT obtained from 15 patients with coronary artery disease (CAD) determined by angiography, and 15 patients with diagnostic of aortic valve stenosis but without CAD as control group. We determined the distribution and composition of HDL subclasses by electrophoresis and their statistical relationship with the gene expression in EAT. RESULTS: EAT from CAD patients showed a higher expression level of OPN and OPG than control group, whereas ON expression was similar between groups. Large HDL subclasses were cholesterol-poor in CAD patients as estimated by the cholesterol-to-phospholipid ratio. A linear regression model showed an independent association of OPN expression with HDL3a-cholesterol, and OPG expression with the relative proportion of HDL3b protein. Logistic analysis determined that OPN expression was positively associated with the presence of atherosclerotic plaque CONCLUSION: OPN, ON, and OPG genes are transcribed in EAT; to the exception of ON, the level of expression was different in CAD patients and control group, and correlated with some HDL subclasses, suggesting a new role of these lipoproteins.
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Estenosis de la Válvula Aórtica/genética , Enfermedad de la Arteria Coronaria/genética , Osteopontina/genética , Osteoprotegerina/genética , Placa Aterosclerótica/genética , Tejido Adiposo/metabolismo , Tejido Adiposo/patología , Anciano , Estenosis de la Válvula Aórtica/metabolismo , Estenosis de la Válvula Aórtica/patología , Estudios de Casos y Controles , HDL-Colesterol/sangre , Enfermedad de la Arteria Coronaria/metabolismo , Enfermedad de la Arteria Coronaria/patología , Femenino , Regulación de la Expresión Génica , Humanos , Lipoproteínas HDL3/genética , Lipoproteínas HDL3/metabolismo , Masculino , Persona de Mediana Edad , Osteonectina/genética , Osteonectina/metabolismo , Osteopontina/metabolismo , Osteoprotegerina/metabolismo , Pericardio/metabolismo , Pericardio/patología , Placa Aterosclerótica/metabolismo , Placa Aterosclerótica/patología , ARN Mensajero/genética , ARN Mensajero/metabolismo , Índice de Severidad de la EnfermedadRESUMEN
The clinical manifestations of human Chagas disease are associated with several factors, including immunological alterations, in this regard, many studies propose that tissue damage might be more severe in the absence of immune regulatory mechanisms, other factors are the genetic background of host and parasite. Trypanosoma cruzi population is genetically, biochemistry and pathogenic diverse along the Latin-America continent and phylogenetic ally are divided into six intra-species lineages TcI-VI. The TcI lineage has a wide distribution with heterogeneous virulence and pathogenesis within strains. In Mexico, the main circulating lineage is TcI in human infections. We analyzed intracytoplasmic cytokines of unstimulated peripheral T lymphocytes, and the level of cytokines (IL-2, IL-4, IL-12, IL-10, IFN-γ and sIL-2R) in the serum of Mexican chagasic subjects. The population studied consisted of 15 asymptomatic individuals, 17 patients with chronic chagasic cardiopathy (CCC), 20 patients with cardiopathy but negative serology for T. cruzi, and 10 healthy subjects. The analysis of CD4+ cells revealed that CCC and asymptomatic patients have higher CD25+ and CD69 activation markers than controls. The Th1 subset (CD4+/IFN- γ +) was higher in CCC than in asymptomatic and control subjects, whereas Th2 subset was markedly high in asymptomatic subjects. Circulating cytokines were below level detection with the exception of IL-2 and sIL-2R. Infection with Mexican Trypanosoma cruzi strains in asymptomatic chagasic subjects have a tendency for a Th2 response with higher CD8+/IFN-γ T cells. In contrast, CCC patients have low levels of intracellular IFN- γ and IL-2 cytokines. In both groups circulating serum cytokines are below the detectable level.
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Linfocitos T CD4-Positivos/fisiología , Linfocitos T CD8-positivos/fisiología , Cardiomiopatía Chagásica/metabolismo , Citocinas/metabolismo , Cardiomiopatía Chagásica/inmunología , Citocinas/sangre , Citocinas/genética , Regulación de la Expresión Génica/inmunología , Humanos , México/epidemiologíaRESUMEN
Background. Thrombin has been implicated as a key molecule in atherosclerotic progression. Clinical evidence shows that thrombin generation is enhanced in atherosclerosis, but its role as a risk factor for coronary atherosclerotic burden has not been proven in coronary artery disease (CAD) stable patients. Objectives. To evaluate the association between TAT levels and homocysteine levels and the presence of coronary artery disease diagnosed by coronary angiography in patients with stable CAD. Methods and Results. We included 95 stable patients admitted to the Haemodynamics Department, including 63 patients with significant CAD and 32 patients without. We measured the thrombin-antithrombin complex (TAT) and homocysteine concentrations in all the patients. The CAD patients exhibited higher concentrations of TAT (40.76 µg/L versus 20.81 µg/L, p = 0.002) and homocysteine (11.36 µmol/L versus 8.81 µmol/L, p < 0.01) compared to the patients without significant CAD. Specifically, in patients with CAD+ the level of TAT level was associated with the severity of CAD being 36.17 ± 24.48 µg/L in the patients with bivascular obstruction and 42.77 ± 31.81 µg/L in trivascular coronary obstruction, p = 0.002. Conclusions. The level of in vivo thrombin generation, quantified as TAT complexes, is associated with the presence and severity of CAD assessed by coronary angiography in stable CAD patients.
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An international study was performed by 26 experienced PCR laboratories from 14 countries to assess the performance of duplex quantitative real-time PCR (qPCR) strategies on the basis of TaqMan probes for detection and quantification of parasitic loads in peripheral blood samples from Chagas disease patients. Two methods were studied: Satellite DNA (SatDNA) qPCR and kinetoplastid DNA (kDNA) qPCR. Both methods included an internal amplification control. Reportable range, analytical sensitivity, limits of detection and quantification, and precision were estimated according to international guidelines. In addition, inclusivity and exclusivity were estimated with DNA from stocks representing the different Trypanosoma cruzi discrete typing units and Trypanosoma rangeli and Leishmania spp. Both methods were challenged against 156 blood samples provided by the participant laboratories, including samples from acute and chronic patients with varied clinical findings, infected by oral route or vectorial transmission. kDNA qPCR showed better analytical sensitivity than SatDNA qPCR with limits of detection of 0.23 and 0.70 parasite equivalents/mL, respectively. Analyses of clinical samples revealed a high concordance in terms of sensitivity and parasitic loads determined by both SatDNA and kDNA qPCRs. This effort is a major step toward international validation of qPCR methods for the quantification of T. cruzi DNA in human blood samples, aiming to provide an accurate surrogate biomarker for diagnosis and treatment monitoring for patients with Chagas disease.
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Enfermedad de Chagas/sangre , ADN Protozoario/análisis , Reacción en Cadena en Tiempo Real de la Polimerasa/métodos , Trypanosoma cruzi/genética , Enfermedad de Chagas/diagnóstico , Enfermedad de Chagas/genética , Enfermedad de Chagas/parasitología , ADN Protozoario/aislamiento & purificación , Humanos , Cooperación Internacional , Ensayos de Aptitud de Laboratorios , Tipificación Molecular , Parasitemia/sangre , Parasitemia/diagnóstico , Parasitemia/genética , Sensibilidad y Especificidad , Trypanosoma cruzi/aislamiento & purificaciónRESUMEN
The aim of the present study was to evaluate the role of AGT and REN gene polymorphisms as susceptibility markers for coronary artery disease (CAD) and/or restenosis after coronary stent placement in a group of Mexican patients. Five polymorphisms of the AGT (rs699, rs4762, rs5051, rs5049, rs5046) and two of the REN (rs5707, rs5705) genes were analyzed by 5' exonuclease TaqMan genotyping assays in 240 patients with CAD who underwent coronary artery stenting (76 with restenosis and 164 without restenosis). A group of 610 individuals without clinical and familial antecedents of cardiovascular diseases were included as controls. The results showed that the distribution of AGT and REN polymorphisms were similar in patients with and without restenosis. However, when the whole group of patients (with and without restenosis) was compared to healthy controls, under co-dominant, dominant, heterozygous and additive models, the REN A4280C (rs5705) polymorphism was associated with increased risk of CAD (OR=1.76, PCo-dom=0.006, OR=1.81, PDom=0.001, OR=1.75, PHet=0.003 and OR=1.59, PAdd=0.003, respectively). All models were adjusted for age, gender, diabetes, dyslipidemia, hypertension and smoking habit. The TC haplotype of the REN gene was associated with increased risk of CAD (OR=1.53, P=0.014). The data suggest that the REN C4280A (rs5705) polymorphism plays an important role in the risk of developing CAD with the highest risk for C allele, but do not support its role as a risk factor for developing restenosis after coronary stenting.
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Enfermedad de la Arteria Coronaria/genética , Polimorfismo de Nucleótido Simple , Renina/genética , Anciano , Alelos , Angiotensinógeno/genética , Angiotensinógeno/metabolismo , Estudios de Casos y Controles , Biología Computacional , Reestenosis Coronaria/genética , Femenino , Frecuencia de los Genes , Marcadores Genéticos , Predisposición Genética a la Enfermedad , Técnicas de Genotipaje , Haplotipos , Heterocigoto , Humanos , Desequilibrio de Ligamiento , Modelos Logísticos , Masculino , México , Persona de Mediana Edad , Renina/metabolismo , Factores de Riesgo , StentsRESUMEN
Serenoa repens has been widely used to treat benign prostatic hyperplasia and lower urinary tract symptoms; however, most of the studies have been conducted in individuals with normal weight and not obese. In this study, the effects of a lipidic extract of S. repens, in markers of oxidative stress, inflammation, and growth factors, in obese rats with testosterone-induced prostatic hyperplasia, were investigated. Total nitrites, malondialdehyde, total glutathione, superoxide dismutase (SOD), and catalase activity were measured; in addition, assays for inflammatory cytokines TNF-α, IL-1ß, IL-6 and the growth factors basic fibroblast growth factor (FGFb) and vascular endothelial growth factor (VEGF) were performed. The obese rats had a higher prostate weight compared with controls. S. repens significantly decreased prostate weight, total nitrites, and malondialdehyde; improved total glutathione, SOD, and catalase activity; and significantly reduced inflammatory (TNF-α, IL-1ß and IL-6) and growth factors (VEGF and FGFb). S. repens showed high antioxidant and antiinflammatory activity in obese rats, suggesting that their use could be beneficial in the treatment of benign prostatic hyperplasia.
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Obesidad/tratamiento farmacológico , Hiperplasia Prostática/tratamiento farmacológico , Antagonistas de Andrógenos/uso terapéutico , Animales , Antiinflamatorios/uso terapéutico , Antioxidantes/uso terapéutico , Humanos , Inflamación/tratamiento farmacológico , Interleucina-6 , Masculino , Obesidad/complicaciones , Estrés Oxidativo , Fitoterapia , Extractos Vegetales , Hiperplasia Prostática/complicaciones , Ratas , Ratas Wistar , Serenoa , Factor de Necrosis Tumoral alfa , Factor A de Crecimiento Endotelial VascularRESUMEN
The I/D insertion/deletion polymorphism of the angiotensin-converting enzyme has been related to hypertension. This polymorphism also seems to have gender related implications. Angiotensin II contributes to the production and release of oxygen reactive species that react with nitric oxide, inactivating its effects. Objective: To establish whether the ACE I/D polymorphism correlates with nitric oxide plasma metabolites in healthy men and women. Methods: Among 896 subjects between 18 and 30 years of age range, 138 fulfilled inclusion criteria. The polymorphism was identified by polymerase chain reaction, and blood nitric oxide metabolites were analyzed following the method described by Bryan. Results: Both systolic and diastolic arterial pressures were higher in men than in women (107/67 vs. 101/65 mmHg, p < 0.001). In terms of the ACE gene, there were differences in the concentration of nitric oxide metabolites in men with the I/D and D/D genotypes when compared to carriers of the I/I genotype (33.55 and 29.23 vs. 53.74 pmol/ml; p = <0.05), while there were no significant differences in women when compared by genotype. Men with the D/D genotype had higher systolic blood pressure than I/D carriers (111 vs. 104 mmHg, p < 0.05). We observed no arterial blood pressure differences in women when grouped by ACE genotype. Conclusions: The ACE D/D genotype was associated with nitric oxide metabolite levels and systolic blood pressure in clinically healthy men while it had no effect in women.
El polimorfismo inserción/deleción del gen de la enzima convertidora de la angiotensina (polimorfismo I/D de la ECA), se relaciona con hipertensión y sus efectos podrían estar asociados al género. La angiotensina II contribuye a la producción y liberación de especies reactivas de oxígeno, que reaccionan con el óxido nítrico (ON), inactivándolo. Objetivo: Conocer si existen diferencias en la concentración de metabolitos de ON en hombres y mujeres sanos que puedan estar influidas por el polimorfismo I/D de la ECA. Métodos: De 896 sujetos de entre 18 y 30 años, 138 cumplieron los criterios de inclusión. El polimorfismo fue identificado usando reacción en cadena de la polimerasa y los metabolitos de ON fueron analizados en sangre usando el método de Bryan. Resultados: Las presiones sistólica y diastólica fueron más elevadas en hombres que en mujeres (107/67 vs. 101/65 mmHg p < 0.001). En relación con el genotipo, existieron diferencias significativas en la concentración de metabolitos de ON en los hombres con genotipos I/D, D/D comparados con los portadores del genotipo I/I (33.55 y 29.23 vs. 53.74 pmol/ml, respectivamente; p = <0.05). No hubo diferencias significativas en las mujeres portadoras de los diferentes genotipos. Respecto a la presión arterial, los hombres con genotipo D/D presentaron mayor presión arterial sistólica que aquellos portadores de I/D (111 vs. 104 mmHg, p < 0.05). En las mujeres no se observaron diferencias significativas comparándolas por genotipo. Conclusiones: El genotipo D/D de la ECA está asociado con el nivel de metabolitos de ON en plasma y la presión arterial sistólica en hombres clínicamente sanos; esta asociación no se observa en las mujeres.
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Adolescente , Adulto , Femenino , Humanos , Masculino , Adulto Joven , Presión Sanguínea , Óxido Nítrico/sangre , Polimorfismo Genético , Peptidil-Dipeptidasa A/genética , Genotipo , México , Óxido Nítrico/metabolismoRESUMEN
Hereditary sudden cardiac death syndromes comprise a wide range of diseases resulting from alteration in cardiac ion channels. Genes involved in these syndromes represent diverse mutations that cause the altered encoding of the diverse proteins constituting these channels, thus affecting directly the currents of the corresponding ions. In the present article we will briefly review how to arrive to a clinical diagnosis and we will present the results of molecular genetic studies made in Mexican subjects attending the SCD Syndromes Clinic of the National Institute of Cardiology of Mexico City.
Los síndromes hereditarios de muerte súbita cardíaca comprenden una amplia gama de enfermedades resultantes de la alteración en los canales iónicos cardíacos. Los genes implicados en estos síndromes presentan mutaciones que causan alteraciones de las diversas proteínas que constituyen estos canales y que, por lo tanto, afectan directamente a las diferentes corrientes iónicas. En el presente artículo se revisa brevemente la forma de llegar a un diagnóstico clínico de dichos síndromes y se presentan los resultados de los estudios genéticos moleculares realizados en sujetos mexicanos que asisten a la Clínica de Síndromes Hereditarios de Muerte Súbita del Instituto Nacional de Cardiología Ignacio Chávez.
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Adolescente , Niño , Preescolar , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Muerte Súbita Cardíaca , Paro Cardíaco/diagnóstico , Paro Cardíaco/genética , Técnicas de Diagnóstico Molecular , Análisis de Secuencia de ADN , México , SíndromeRESUMEN
UNLABELLED: The I/D insertion/deletion polymorphism of the angiotensin-converting enzyme has been related to hypertension. This polymorphism also seems to have gender related implications. Angiotensin II contributes to the production and release of oxygen reactive species that react with nitric oxide, inactivating its effects. OBJECTIVE: To establish whether the ACE I/D polymorphism correlates with nitric oxide plasma metabolites in healthy men and women. METHODS: Among 896 subjects between 18 and 30 years of age range, 138 fulfilled inclusion criteria. The polymorphism was identified by polymerase chain reaction, and blood nitric oxide metabolites were analyzed following the method described by Bryan. RESULTS: Both systolic and diastolic arterial pressures were higher in men than in women (107/67 vs. 101/65 mm Hg, p<0.001). In terms of the ACE gene, there were differences in the concentration of nitric oxide metabolites in men with the I/D and D/D genotypes when compared to carriers of the I/I genotype (33.55 and 29.23 vs. 53.74 pmol/ml; p=<0.05), while there were no significant differences in women when compared by genotype. Men with the D/D genotype had higher systolic blood pressure than I/D carriers (111 vs. 104 mm Hg, p<0.05). We observed no arterial blood pressure differences in women when grouped by ACE genotype. CONCLUSIONS: The ACE D/D genotype was associated with nitric oxide metabolite levels and systolic blood pressure in clinically healthy men while it had no effect in women.
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Presión Sanguínea , Óxido Nítrico/sangre , Peptidil-Dipeptidasa A/genética , Polimorfismo Genético , Adolescente , Adulto , Femenino , Genotipo , Humanos , Masculino , México , Óxido Nítrico/metabolismo , Adulto JovenRESUMEN
Hereditary sudden cardiac death syndromes comprise a wide range of diseases resulting from alteration in cardiac ion channels. Genes involved in these syndromes represent diverse mutations that cause the altered encoding of the diverse proteins constituting these channels, thus affecting directly the currents of the corresponding ions. In the present article we will briefly review how to arrive to a clinical diagnosis and we will present the results of molecular genetic studies made in Mexican subjects attending the SCD Syndromes Clinic of the National Institute of Cardiology of Mexico City.
Asunto(s)
Muerte Súbita Cardíaca , Paro Cardíaco/diagnóstico , Paro Cardíaco/genética , Técnicas de Diagnóstico Molecular , Análisis de Secuencia de ADN , Adolescente , Niño , Preescolar , Femenino , Humanos , Masculino , México , Persona de Mediana Edad , Síndrome , Adulto JovenRESUMEN
El síndrome de Andersen-Tawil resulta de la alteración de canales de potasio, se hereda de forma autosómica dominante y se cataloga como el tipo 7 de los síndromes de QT largo congénitos. El gen afectado es el KCNJ2, el cual codifica la proteína Kir2.1 que forma el canal de potasio rectificador interno («inward rectifier¼). Este canal interviene en la estabilización del potencial de membrana en reposo y controla la duración del potencial de acción en el sistema musculoesquelético y cardíaco. En miocitos ventriculares, es un componente responsable de la rectificación de la corriente de potasio en la fase 3 del potencial de acción. Debido a que Kir2.1 está presente en el sistema musculoesquelético, corazón y cerebro, las alteraciones de esta proteína dan origen a las principales características del síndrome: parálisis flácida, arritmias ventriculares y alteraciones leves a moderadas en el desarrollo del esqueleto, especialmente en manos y pies. En la presente revisión se aborda esta enfermedad desde el punto de vista del diagnóstico clínico y molecular con énfasis en sus manifestaciones cardíacas.
The Andersen-Tawil syndrome is a cardiac ion channel disease that is inherited in an autosomal dominant way and is classified as type 7 of the congenital long QT syndromes. Affected gene is KCNJ2, which forms the inward rectifier potassium channel designated Kir2.1. This protein is involved in stabilizing the resting membrane potential and controls the duration of the action potential in skeletal muscle and heart. It also participates in the terminal repolarization phase of the action potential in ventricular myocytes and is a major component responsible for the correction in the potassium current during phase 3 of the action potential repolarization. Kir 2.1 channel has a predominant role in skeletal muscle, heart and brain. Alterations in this channel produce flaccid paralysis, arrhythmias, impaired skeletal development primarily in extremities and facial area. In this review we address the disease from the point of view of clinical and molecular diagnosis with emphasis on cardiac manifestations.