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1.
Biomedica ; 43(Sp. 1): 69-76, 2023 08 31.
Artículo en Inglés, Español | MEDLINE | ID: mdl-37721905

RESUMEN

Paracoccidioidomycosis is a systemic mycosis endemic in Latin America. The most frequent form involves a chronic compromise of the lungs, skin, and mucosa. The patient started with a single oral lesion that lasted for several years. The absence of other symptoms pointed out a possible malignant neoplasm, specifically a squamous cell carcinoma. Differentiation between both diagnoses ­fungal infection and carcinoma­ depends on the results of the direct examination, the histopathological study, and the initial and subsequent cultures. However, in this case, those findings were not conclusive. The coexistence of both diagnoses is frequent and increases the diagnostic challenge. After several consultations and tests, direct examination, immunodiffusion and real-time PCR findings the multifocal chronic paracoccidioidomycosis diagnosis was confirmed. This case warns about a systematical absence of clinical suspicion of endemic mycoses before the appereance of mucocutaneous lesions, which can be produced by fungi like Paracoccidioides spp, and the importance of considering those mycoses among the differential diagnoses.


La paracoccidioidomicosis es una micosis sistémica endémica en Latinoamérica. La presentación más frecuente compromete crónicamente los pulmones, la piel y las mucosas. Al inicio, este paciente presentó, por varios años, una lesión única en la mucosa oral que, en ausencia de otros síntomas, se relacionó con una neoplasia maligna, específicamente con un carcinoma escamocelular. La diferenciación entre los dos diagnósticos se hace mediante un examen directo, un estudio histopatológico y cultivos iniciales y subsecuentes. Sin embargo, tales estudios no fueron concluyentes. Después de varias consultas y pruebas, con los resultados del examen directo, la inmunodifusión y la PCR en tiempo real se confirmó el diagnóstico de paracoccidioidomicosis crónica multifocal. Este caso alerta sobre la ausencia de sospecha clínica de micosis endémicas, dada la presencia de lesiones mucocutáneas que pueden ser producidas por hongos como Paracoccidioides spp, y la importancia de considerarlas entre los diagnósticos diferenciales.


Asunto(s)
Carcinoma de Células Escamosas , Paracoccidioidomicosis , Humanos , Paracoccidioidomicosis/diagnóstico , Hiperplasia , Carcinoma de Células Escamosas/diagnóstico , Piel , Diferenciación Celular
2.
Neurologia (Engl Ed) ; 2022 Nov 05.
Artículo en Inglés | MEDLINE | ID: mdl-36347422

RESUMEN

INTRODUCTION: There is an extending use of percutaneous closure of patent foramen ovale (PFO) as therapy for PFO-associated cryptogenic strokes. The aim of our study was to investigate the clinical practice of percutaneous closure of PFO and to analyse the variables for decision-making on the selection of patients for this procedure. METHOD: A prospective observational multicentric survey was conducted using all the cases of cryptogenic stroke/transient ischaemic attack associated with PFO recorded in the NORDICTUS hospital registry during the period 2018-2021. Clinical data, radiological patterns, echocardiogram data and factors related to PFO-associated stroke (thromboembolic disease and paradoxical embolism criteria) were recorded. The indication for closure was analysed according to age (≤/> 60 years) and the characteristics of the PFO. RESULTS: In the group ≤ 60 years (n = 488), 143 patients (29.3%) underwent PFO closure. The most influential variables for this therapy were detection of a high-risk PFO (OR 4.11; IC 2.6-6.5, P < .001), criteria for paradoxical embolism (OR 2.61; IC 1.28-5.28; P = .008) and previous use of antithrombotics (OR 2.67; IC 1.38-5.18; P = .009). In the > 60 years group (n = 124), 24 patients had PFO closure (19%). The variables related to this option were history of pulmonary thromboembolism, predisposition to thromboembolic disease, paradoxical embolism criteria, and high-risk PFO. CONCLUSIONS: The detection of a high-risk PFO (large shunt, shunt with associated aneurysm) is the main criterion for a percutaneous closure-based therapy. Other conditions to consider in the eligibility of patients are the history of thromboembolic disease, paradoxical embolism criteria or the previous use of antithrombotics.

3.
Sci Rep ; 12(1): 17097, 2022 Oct 12.
Artículo en Inglés | MEDLINE | ID: mdl-36224273

RESUMEN

In this work, we present an on-chip 2D and 3D photonics integration solution compatible with Front End of Line integration (FEOL) using deposited polycrystalline silicon (poly:Si) for optical interconnects applications. Deposited silicon integration on a bulk silicon wafer is here discussed in all its processing steps and configurations. Moreover, results of deposited silicon high-Q Photonic Crystal (PhC) resonators are shown, demonstrating the possibility to employ optical resonators patterned on this material in the next generation of 2D and 3D integrated optical interconnects.

4.
Rev. argent. reumatolg. (En línea) ; 32(1): 16-20, mar. 2021. ilus, tab
Artículo en Español | LILACS, BINACIS | ID: biblio-1279754

RESUMEN

Introducción: El interferón (IFN) tipo I es una citoquina que juega un rol fundamental en la patogenia del Lupus Eritematoso Sistémico (LES). Diferentes niveles de esta citoquina podrían explicar la heterogeneidad de esta patología y ser útil para evaluar la actividad de la misma. Objetivos: Determinar los niveles de IFN tipo I sérico en pacientes con LES y evaluar su utilidad como biomarcador de actividad. Material y Métodos: 16 pacientes con LES (ACR 1997) y 16 controles. Métodos: Actividad de la enfermedad (SLEDAI-2K), daño orgánico (SLICC), IFN tipo I (HEK-Blue-IFNα/β), anticuerpos anti-DNAdc (Inmunofluorescencia Indirecta), anticuerpos anti-ENA (ELISA), C3-C4 (Inmunoturbidimetría). Estadística: InfoStat/Instat/MedCalc. Valores de p<0,05 fueron considerados estadísticamente significativos. Resultados: Se observó un aumento de la concentración de IFN en el grupo LES con respecto al control (p<0,05). Los pacientes con valores de IFN superiores al punto de corte, se asociaron con la presencia de anticuerpos anti-DNAdc (OR:13,33; p<0,05). Pacientes con hipocomplementemia y aquellos con puntaje de SLEDAI-2K mayor a 8 presentaron mayores niveles de IFN comparados con pacientes con complemento normal y menor puntaje de índice, respectivamente (p<0,05). Conclusiones: Estos resultados sugieren la importancia que podría tener la determinación de IFN tipo I para el monitoreo de la actividad del LES.


Introduction: Type I interferon (IFN) is a cytokine that plays a fundamental role in the pathogenesis of Systemic Lupus Erythematosus (SLE). Different levels of this cytokine could explain the heterogeneity of this pathology and be useful to evaluate its activity. Objectives: To determine the serum type I IFN levels in patients with SLE and evaluate its usefulness as a biomarker of activity. Material and Method: 16 patients with SLE (ACR 1997) and 16 controls. Methods: Disease activity (SLEDAI-2K), organ damage (SLICC), type I IFN (HEK-Blue-IFNα/β), anti-dsDNA antibodies (Indirect Immunofluorescence), anti-ENA antibodies (ELISA), C3-C4 (Immunoturbidimetry). Statistics: InfoStat/Instat/MedCalc. P values <0.05 were statistically significant. Results: An increase in IFN concentration was observed in the SLE group respect to the control (p <0.05). Patients with IFN values above the cut-off point were associated with the presence of anti-dsDNA antibodies (OR: 13.33; p<0.05). Hypocomplementemic patients and those with a SLEDAI-2K score greater than 8 had higher IFN levels compared to patients with normal complement and a lower index score, respectively (p<0.05). Conclusions: These results suggest the importance that the determination of IFN type I could have for the monitoring of SLE activity.


Asunto(s)
Humanos , Lupus Eritematoso Sistémico , Interferón Tipo I , Anticuerpos
5.
Artículo en Español | LILACS, BINACIS | ID: biblio-1125868

RESUMEN

Se describe el caso de una mujer de 35 años que presenta polineuropatía desmielinizante inflamatoria crónica como compromiso neurológico en su diagnóstico inicial de lupus eritematoso sistémico (LES). Si bien el compromiso neurológico es de una prevalencia variable en lupus, la asociación que se describe no es frecuente y tiene importantes connotaciones en el tratamiento.


We described a 35 years old female, who developed Chronic inflammatory demyelinating polyneuropathy as neurologic commitment during the early diagnosis in Systemic Lupus Erithematosus (SLE). While the neuropsychiatric commitment has a variable prevalence in SLE, the association that we describe is infrequent and it has important concerns during its treatment.


Asunto(s)
Polineuropatías , Terapéutica , Diagnóstico , Lupus Eritematoso Sistémico
7.
Rev. argent. reumatolg. (En línea) ; 31(1): 22-24, 2020. tab
Artículo en Español | LILACS, BINACIS | ID: biblio-1123751

RESUMEN

Se describe el caso de una mujer de 35 años que presenta polineuropatía desmielinizante inflamatoria crónica como compromiso neurológico en su diagnóstico inicial de lupus eritematoso sistémico (LES). Si bien el compromiso neurológico es de una prevalencia variable en lupus, la asociación que se describe no es frecuente y tiene importantes connotaciones en el tratamiento.


We described a 35 years old female, who developed Chronic inflammatory demyelinating polyneuropathy as neurologic commitment during the early diagnosis in Systemic Lupus Erithematosus (SLE). While the neuropsychiatric commitment has a variable prevalence in SLE, the association that we describe is infrequent and it has important concerns during its treatment.


Asunto(s)
Humanos , Femenino , Polineuropatías , Terapéutica , Lupus Eritematoso Sistémico
8.
Rev Neurol ; 69(2): 45-52, 2019 Jul 16.
Artículo en Español | MEDLINE | ID: mdl-31287147

RESUMEN

AIM: It has been suggested that the repetitive transcranial magnetic stimulation could be useful as a non-pharmacological treatment for spasticity. The aim of this study was to evaluate the clinical and neurophysiological effects of high-frequency intermittent theta burst stimulation (iTBS) on lower limb spasticity in patients with relapsing multiple sclerosis in a randomized, double-blind placebo controlled trial. PATIENTS AND METHODS: Seventeen patients in the remitting phase of the disease were randomly allocated to sham or magnetic therapy group and underwent iTBS over contralateral motor cortex of the most affected leg once a day for two weeks. Each session consisted of 10 bursts containing three pulses at 50 Hz repeated at 200 ms intervals (5 Hz) every 10 s for a total of 600 stimuli. The iTBS effect was assessed by using clinical (such as the Modified Ashworth Scale) and neuro-physiological (H/M amplitude ratio and cortical silent period duration) parameters. RESULTS: Two-week iTBS over motor cortex of the most affected leg did not produce any significant clinical effect on spasticity. However, it decreases the H/M amplitude ratio and increases duration of cortical silent period but not significantly, in patients with relapsing multiple sclerosis. CONCLUSION: The stimulation protocol used in this study does not have significant therapeutic effect. Therefore, we do recommend further studies as neurophysiological changes were evident.


TITLE: Estimulacion magnetica transcraneal theta-burst intermitente para el tratamiento de la espasticidad en pacientes con esclerosis multiple recurrente: resultados de un ensayo clinico aleatorizado doble ciego.Objetivo. La estimulacion magnetica transcraneal repetitiva podria ser util como tratamiento no farmacologico para la espasticidad. El objetivo de este estudio es reevaluar el efecto clinico y los cambios neurofisiologicos que produce la estimulacion theta-burst intermitente (ETBi) sobre la espasticidad de las extremidades inferiores en pacientes con esclerosis multiple recurrente en un ensayo aleatorizado, doble ciego, controlado con placebo. Pacientes y metodos. Diecisiete pacientes en la fase remitente de la enfermedad fueron aleatoriamente asignados al grupo placebo o al grupo de tratamiento activo mediante estimulacion magnetica transcraneal repetitiva con protocolo ETBi sobre la corteza motora contralateral de la pierna mas afectada. El procedimiento consistio en 10 sesiones diarias durante dos semanas. Cada sesion consistio en 10 rafagas que contenian tres pulsos a 50 Hz repetidos a intervalos de 200 ms (5 Hz) cada 10 s para un total de 600 estimulos. El efecto de ETBi se evaluo mediante el uso de parametros clinicos (como la escala de Ashworth modificada) y neurofisiologicos (ratio de amplitud H/M y duracion del periodo cortical silente). Resultados. Dos semanas de ETBi sobre la corteza motora de la pierna mas afectada no produjeron ningun efecto clinico significativo sobre la espasticidad en pacientes con esclerosis multiple recurrente. Sin embargo, aunque de forma no significativa, se observo disminucion de la ratio de amplitud H/M y un aumento de la duracion del periodo cortical silente. Conclusion. El protocolo de estimulacion utilizado en este estudio no parece tener un efecto terapeutico significativo. Sin embargo, recomendamos estudios adicionales, ya que los cambios neurofisiologicos fueron evidentes.


Asunto(s)
Esclerosis Múltiple/complicaciones , Espasticidad Muscular/etiología , Espasticidad Muscular/terapia , Estimulación Magnética Transcraneal/métodos , Adulto , Anciano , Método Doble Ciego , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Recurrencia , Resultado del Tratamiento
11.
Acta Odontol Latinoam ; 32(1): 36-43, 2019 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-31206573

RESUMEN

Several studies have tried to associate the presence of different pathogens with the onset and progression ofperiodontitis, reporting a wide variety of results from different populations and environments. The aim of this study was to determine the main periodontal pathogens present in the subgingival biofilm of Dominican patients with periodontitis, by using specific microbiological culturing techniques. Periodontitis patients were selected after a full-mouth periodontal evaluation, and assigned to different periodontitis groups based on percentage of affected locations. Subgingival samples were collected and analyzed by means of specific culture techniques. Anaerobic counts, frequency of detection and proportions of target pathogens were calculated. Variables were analyzed by means of Student's T-test or chi-square test. Twenty-nine subjects were recruited, of whom 17 were diagnosed with generalized periodontitis (GenP) and 12 with localized periodontitis (LocP). The most prevalent bacterial species in both groups was Prevotella intermedia (94.1% in GenP and 91.7% in LocP), followed by Porphyromonas gingivalis (88.2% in GenP and 83.3% in LocP). Total microbiota in subgingival samples was 1.3 x107 colony-forming units (CFU)/mL (standard deviation, SD=1.5 x107) and 9.6x10s CFU/mL (SD=1.1 x107) in GenP and LocP subjects, respectively, though differences were not statistically significant (p=0.222). The highest counts were observed for P gingivalis in both groups, with mean concentration 2.5x10s CFU/mL (6.1x10s) in GenP and 2.9x10s CFU/mL (5x10s) in LocP, with no statistically significant difference (p=0.879). These results suggest that relevant periodontal pathogens are found with diversity and abundance in the subgingival microbiota of adult Dominican patients with periodontitis.


Varios estudios han tratado de asociar la presencia de diferentes patógenos con el inicio y la progresión de la periodontitis, mostrando una gran variedad de resultados en diferentes poblaciones y entornos. El objetivo del presente estudio fue determinar los principales patógenos periodontales presentes en la biopelícula subgingival de pacientes dominicanos con periodontitis, utilizando técnicas específicas de cultivo microbiológico. Los pacientes con periodontitis se seleccionaron después de una evaluación periodontal de boca completa y se asignaron a diferentes grupos de periodontitis según el porcentaje de localizaciones afectadas. Las muestras subgingivales fueron recolectadas y analizadas mediante técnicas de cultivo específicas. Se calcularon los recuentos anaeróbicos, la frecuencia de detección y las proporciones de los patógenos seleccionados. Las variables se analizaron mediante la prueba T de Student o la prueba de chi-cuadrado. Se reclutaron veintinueve sujetos, 17 diagnosticados como periodontitis generalizada (GenP) 12 con periodontitis localizada (LocP). La especie bacteriana más prevalente en ambos grupos fue Prevotella intermedia (94.1% y 91.7%, respectivamente) y seguida de Porphyromonas gingivalis (88.2% y 83.3%, respectivamente). La microbiota total en muestras subgingivales fue 1.3 x107 unidades formadoras de colonias (CFU)/mL (desviación estándar, SD=1.5 x107) y 9.6x106 CFU / mL (SD=1.1 x107) en sujetos GenP y LocP, respectivamente, pero no hubo diferencias estadísticamente significativas (p=0.222). Los recuentos más altos se observaron para P. gingivalis en ambos grupos, con una concentración media de 2.5x106 CFU/mL (6.1x106) en GenP y 2.9x106 CFU/mL (5x106) en LocP, sin diferencias estadísticamente significativas (p=0.879). Estos resultados sugieren que se encuentran patógenos periodontales relevantes con diversidad y abundancia en la microbiota subgingival de pacientes adultos dominicanos con periodontitis.


Asunto(s)
Infecciones Bacterianas/microbiología , Técnicas de Cultivo/métodos , Bacterias Gramnegativas/aislamiento & purificación , Periodontitis/microbiología , Adulto , Aggregatibacter actinomycetemcomitans/aislamiento & purificación , Infecciones Bacterianas/epidemiología , Biopelículas , Estudios Transversales , República Dominicana/epidemiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Periodontitis/clasificación , Periodontitis/epidemiología , Porphyromonas gingivalis/aislamiento & purificación , Prevalencia , Prevotella intermedia/aislamiento & purificación
12.
Genome ; 62(4): 287-293, 2019 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-30817213

RESUMEN

One of the major challenges in molecular analysis of arthropods, especially for natural enemies of insect pests, is the intact preservation of the specimens to be integrated into entomological collections. However, most of the DNA extraction protocols involve maceration of the tissue, avoiding the preservation of the original specimen. Two general methods were adapted into non-destructive DNA extraction protocols, DNeasy® Blood & Tissue Kit (A) and the CaCl2 lysis buffer method (B), while the potential of the method with the alkaline lysis buffer (HotSHOT; C) was evaluated for the first time on insect specimens. These protocols were assessed for the recovery of DNA from Ceraeochrysa valida, Tamarixia radiata, and Hippodamia convergens. Photographical records showed that morphological features of the specimens were preserved after the DNA extraction process. COI fragments were successfully amplified with method A (100%), B (77%), and C (88%), respectively. We conclude that these non-destructive DNA extraction methods avoid the destruction of tissue and preserve the original insects and their morphological characteristics for future reference.


Asunto(s)
ADN/aislamiento & purificación , Insectos/genética , Animales , Agentes de Control Biológico , Técnicas Genéticas , Reacción en Cadena de la Polimerasa
13.
Acta odontol. latinoam ; 32(1): 36-43, 2019. tab
Artículo en Inglés | LILACS | ID: biblio-1015020

RESUMEN

The aim of this study was to evaluate the deproteinization of primary enamel by analyzing etching pattern types, with and without the application of 5% NaOCl before acid etching with 37% H3PO4. Fifteen extracted human primary molars were randomly selected for the present in vitro study; 1mm x 1mm blocks were prepared and divided into two groups (n = 21). These groups were treated as follows: Group AAcid Etching with 37% H3PO4 gel for 15 s; Group B5% NaOCl for 60 s + Acid Etching with 37% H3PO4for 15 s. The specimens were prepared for scanning electron microscopy analysis. The images were evaluated for quality types I and II etching of the enamel surface using ImageJ software. Datasets were checked for normality by KolgomorvSmirnov test and the nonparametric unpaired MannWhitney test was applied. The mean surface area of type I and II etching pattern values was 1922.314 µm2for Group A and 3840.473 µm2Group B. We conclude that deproteinization with 5% NaOCl prior to acid etching can be used to increase the area of adhesion and the quality of the etching pattern (AU)


El objetivo del estudio fue evaluar la desproteinización del esmalte primario a través de los tipos de patrones de grabado, con y sin NaOCl 5% utilizado antes del grabado ácido con H3PO4 37%. Quince dientes primarios humanos extraídos se seleccionaron al azar para el presente estudio in vitro, se prepararon bloques de 1mm x 1 mm y se dividieron en dos grupos (n = 21). Estos grupos se trataron de la siguiente manera: Grupo A: Grabado ácido con H3PO4 37% en gel durante 15 segundos; Grupo B: NaOCl 5% durante 60 segundos + Grabado ácido con H3PO4 37% durante 15 segundos. Las muestras se prepararon para el análisis de microscopía electrónica de barrido. Las imágenes obtenidas se evaluaron principalmente por la calidad de los grabados tipo I y II de la superficie del esmalte primario, utilizando el software Image J. Los datos se analizaron en cuanto a su normalidad mediante la prueba de KolgomorvSmirnov, se utilizó pruebas no paramétricas: Prueba de MannWhitney no pareada. Como resultado, se encontró que el área de superficie media de los valores de patrón de grabado de tipo I y II para el Grupo A era 1922,314 µm2 y el Grupo B era 3840,473 µm2. Finalmente, llegamos a la conclusión de que se puede usar la desproteinización con NaOCl 5% antes del grabado ácido para aumentar el área de adhesión y la calidad del patrón de grabado (AU)


Asunto(s)
Humanos , Masculino , Femenino , Adolescente , Adulto , Periodontitis/microbiología , Medios de Cultivo , Recuento de Colonia Microbiana/métodos , Estudios Transversales , República Dominicana
14.
Rev Neurol ; 67(11): 436-440, 2018 Dec 01.
Artículo en Español | MEDLINE | ID: mdl-30484276

RESUMEN

INTRODUCTION: The behavioural variant of frontotemporal dementia is characterised by progressive social, cognitive and personality deterioration associated with several molecular pathologies of frontotemporal lobar dementia (FTLD): FTLD-tau, FTLD-TDP and FTLD-FUS. Its diagnosis requires pathological studies. CASE REPORT: A 61-year-old male, with a three-year progressive history of behavioural disorder, apathy, poor language skills, perseveration, lack of empathy, bulimia and executive dysfunction. Neuroimaging revealed right-dominant frontal cortical atrophy, and a single-photon emission tomography brain scan showed bilateral frontal hypoperfusion with thalamic and caudate involvement. Clinically, he was diagnosed with probable frontotemporal dementia, behavioural variant. On his death, his brain was donated to the Neurological Tissue Bank and the neuropathological diagnosis was corticobasal degeneration. CONCLUSIONS: Corticobasal degeneration is one of the FTLD-tau tauopathies. The 2013 diagnostic criteria for corticobasal degeneration include executive dysfunction and behavioural and personality disorders similar to those of this patient as a clinical phenotype. The anatomoclinical case presented illustrates the absence of any correlation between the clinical phenotype and the underlying neuropathological diagnosis in frontotemporal dementia, and the need to conduct a histopathological study in order to reach a definitive diagnosis.


TITLE: Variante conductual de la demencia frontotemporal como forma de presentacion de la degeneracion corticobasal.Introduccion. La variante conductual de la demencia frontotemporal se caracteriza por el deterioro progresivo de la personalidad, social y cognitivo que se asocia con diversas patologias moleculares de la degeneracion lobar frontotemporal (DLFT): DLFT-tau, DLFT-TDP y DLFT-FUS. El estudio anatomopatologico es necesario para su diagnostico. Caso clinico. Varon de 61 años, con un cuadro progresivo de tres años de evolucion de trastorno conductual, apatia, lenguaje pobre, perseveracion, falta de empatia, bulimia y disfuncion ejecutiva. En la neuroimagen se objetivo una atrofia cortical frontal de predominio derecho, y en la tomografia simple por emision de foton unico cerebral, una hipoperfusion frontoparietotemporal bilateral con afectacion de talamos y caudados. Clinicamente, se le diagnostico probable demencia frontotemporal, variante conductual. Tras su fallecimiento, se dono el cerebro al Banco de Tejidos Neurologicos y el diagnostico neuropatologico fue el de degeneracion corticobasal. Conclusiones. La degeneracion corticobasal es una de las taupatias de la DLFT-tau. Los criterios diagnosticos de degeneracion corticobasal de 2013 contemplan como fenotipo clinico la disfuncion ejecutiva, las alteraciones conductuales y de personalidad similar al de este paciente. El caso anatomoclinico presentado ilustra la falta de correlacion entre el fenotipo clinico y el diagnostico neuropatologico subyacente en la demencia frontotemporal, y la necesidad de realizar el estudio histopatologico para llegar al diagnostico definitivo.


Asunto(s)
Conducta , Demencia Frontotemporal/psicología , Degeneraciones Espinocerebelosas/etiología , Degeneraciones Espinocerebelosas/patología , Resultado Fatal , Humanos , Masculino , Persona de Mediana Edad
15.
OMICS ; 22(9): 575-588, 2018 09.
Artículo en Inglés | MEDLINE | ID: mdl-30183544

RESUMEN

Pharmacogenetic variation in Latin Americans is understudied, which sets a barrier for the goal of global precision medicine. The RIBEF-CEIBA Network Consortium was established to characterize interindividual and between population variations in CYP2D6, CYP2C9, and CYP2C19 drug metabolizing enzyme genotypes, which were subsequently utilized to catalog their "predicted drug metabolism phenotypes" across Native American and Ibero American populations. Importantly, we report in this study, a total of 6060 healthy individuals from Ibero-America who were classified according to their self-reported ancestry: 1395 Native Americans, 2571 Admixed Latin Americans, 96 Afro-Latin Americans, 287 white Latin Americans (from Cuba), 1537 Iberians, and 174 Argentinean Ashkenazi Jews. Moreover, Native Americans were grouped into North-, Central-, and South Amerindians (from Mexico, Costa Rica, and Peru, respectively). All subjects were studied for the most common and functional CYP2D6, CYP2C9, and CYP2C19 allelic variants, and grouped as genotype-predicted poor or ultrarapid metabolizer phenotypes (gPMs and gUMs, respectively). Native Americans showed differences from each ethnic group in at least two alleles of CYP2D6, CYP2C9, and CYP2C19. Native Americans had higher frequencies of wild-type alleles for all genes, and lower frequency of CYP2D6*41, CYP2C9*2, and CYP2C19*17 (p < 0.05). Native Americans also showed less CYP2C19 gUMs than the rest of the population sample. In addition, differences within Native Americans (mostly North vs. South) were also found. The interethnic differences described supports the need for population-specific personalized and precision medicine programs for Native Americans. To the best of our knowledge, this is the largest study carried out in Native Americans and other Ibero-American populations analyzing CYP2D6, CYP2C9, and CYP2C19 genetic polymorphisms. Population pharmacogenomics is a nascent field of global health and warrants further research and education.


Asunto(s)
Citocromo P-450 CYP2C19/genética , Citocromo P-450 CYP2C9/genética , Citocromo P-450 CYP2D6/genética , Farmacogenética/métodos , Adolescente , Adulto , Anciano , Femenino , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven
16.
Lupus ; 27(1): 33-39, 2018 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-28385125

RESUMEN

Objective The aim of this study was to measure presenteeism (productivity impairment while the patient is at work) and the related risk factors in patients with systemic lupus erythematosus (SLE) from Argentina. Methods A total of 130 consecutive (1997 American College of Rheumatology (ACR) criteria) working patients with SLE were assessed using a standardized data collection form. Sociodemographic, disease and work-related variables were collected. The Work Productivity and Activity Impairment (WPAI) questionnaire was performed. Results Overall, 130 patients were included in the analysis; 91% were women, and the mean age was 39 years (range 19-77). A total of 43% were White, 43% Mestizo and 13% Amerindian. Overall, 38% were single and 38% were married. A total of 75% had more than 12 years of formal education. The median disease duration was 7 years (interquartile range 25-75 (IQR) 4-13). Median Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) score was 0 (IQR 0-2), and median Systemic Lupus International Collaborating Clinics/ACR Damage Index (SLICC-SDI) score was 0 (IQR 0-1). Lupus quality of life (LupusQoL) domains scores were: physical health 87 (IQR 70-96), emotional health 78 (IQR 54-91), burden to others 75 (IQR 50-92), intimate relationships 87 (IQR 50-100), and body image 85 (IQR 70-100). Absenteeism was 8%, presenteeism was 19%, and overall work impairment (absenteeism + presenteeism) was 26%. In the multiple regression analysis, considering presenteeism as dependent variable, (adjusting by age, disease duration, >12 years of education, Non-white race, Visual Analogue Scale (VAS) pain, VAS fatigue, SLICC-SDI, LupusQoL, physical and emotional domains), we found that SLICC-SDI (odds ratio (OR) 1.68, confidence interval (CI) 1-2.7) and Non-white race (OR 3.27, CI 1.04-10) were related to presenteeism and >12 years of education (OR 0.30, CI 0.09-0.98) and higher scores of LupusQoL emotional health domain (OR 0.95, CI 0.92-0.98) were protective. Conclusions organ damage and Non-white race were significantly associated with presenteeism while >12 years of education and higher scores of LupusQoL emotional health domain were protective.


Asunto(s)
Lupus Eritematoso Sistémico/psicología , Rendimiento Laboral/estadística & datos numéricos , Adulto , Anciano , Argentina/epidemiología , Estudios Transversales , Femenino , Humanos , Lupus Eritematoso Sistémico/epidemiología , Masculino , Persona de Mediana Edad , Adulto Joven
17.
mBio ; 8(5)2017 10 10.
Artículo en Inglés | MEDLINE | ID: mdl-29018116

RESUMEN

Suppression of the SOS response has been postulated as a therapeutic strategy for potentiating antimicrobial agents. We aimed to evaluate the impact of its suppression on reversing resistance using a model of isogenic strains of Escherichia coli representing multiple levels of quinolone resistance. E. coli mutants exhibiting a spectrum of SOS activity were constructed from isogenic strains carrying quinolone resistance mechanisms with susceptible and resistant phenotypes. Changes in susceptibility were evaluated by static (MICs) and dynamic (killing curves or flow cytometry) methodologies. A peritoneal sepsis murine model was used to evaluate in vivo impact. Suppression of the SOS response was capable of resensitizing mutant strains with genes encoding three or four different resistance mechanisms (up to 15-fold reductions in MICs). Killing curve assays showed a clear disadvantage for survival (Δlog10 CFU per milliliter [CFU/ml] of 8 log units after 24 h), and the in vivo efficacy of ciprofloxacin was significantly enhanced (Δlog10 CFU/g of 1.76 log units) in resistant strains with a suppressed SOS response. This effect was evident even after short periods (60 min) of exposure. Suppression of the SOS response reverses antimicrobial resistance across a range of E. coli phenotypes from reduced susceptibility to highly resistant, playing a significant role in increasing the in vivo efficacy.IMPORTANCE The rapid rise of antibiotic resistance in bacterial pathogens is now considered a major global health crisis. New strategies are needed to block the development of resistance and to extend the life of antibiotics. The SOS response is a promising target for developing therapeutics to reduce the acquisition of antibiotic resistance and enhance the bactericidal activity of antimicrobial agents such as quinolones. Significant questions remain regarding its impact as a strategy for the reversion or resensitization of antibiotic-resistant bacteria. To address this question, we have generated E. coli mutants that exhibited a spectrum of SOS activity, ranging from a natural SOS response to a hypoinducible or constitutively suppressed response. We tested the effects of these mutations on quinolone resistance reversion under therapeutic concentrations in a set of isogenic strains carrying different combinations of chromosome- and plasmid-mediated quinolone resistance mechanisms with susceptible, low-level quinolone resistant, resistant, and highly resistant phenotypes. Our comprehensive analysis opens up a new strategy for reversing drug resistance by targeting the SOS response.


Asunto(s)
Antibacterianos/farmacología , Farmacorresistencia Bacteriana/genética , Escherichia coli/efectos de los fármacos , Escherichia coli/genética , Quinolonas/farmacología , Respuesta SOS en Genética , Cromosomas Bacterianos/genética , Escherichia coli/crecimiento & desarrollo , Pruebas de Sensibilidad Microbiana/métodos , Mutación , Fenotipo , Plásmidos
18.
Neumol. pediátr. (En línea) ; 12(2): 85-89, abr. 2017. tab
Artículo en Español | LILACS | ID: biblio-999094

RESUMEN

INTRODUCTION. Tracheostomy is an old surgical procedure, wich is currwently performed, in pediatric patients. Bronchoscopy is an effective procedure to follow these patients as it reveals data that can not be obtained with other methods. The aim of this study was to determine indications, bronchoscopic findings and mortality in patients with tracheostomy at the Hospital del Niño Morelense (HNM). in addiction, we sought to detail the role of bronchoscopy in patients follow-up. METHODS. Observational, descriptive and transversal study. We reviewed the records of the patients with tracheostomy during 5 years looking for bronchoscopic findings. RESULTS: The main indication for tracheostomy was prolonged ventilation (74.4 percent). The main bronchoscopic diagnoses were subglottic stenosis (20 percent), granulomas in the trachea (70 percent), and in bronchi abnormal secretions (70 percent) mortality was 32.5 percent. CONCLUSIONS: The main indication for tracheostomy is prolonged ventuilation. Mortality in children with tracheostomy depends mainly on the underlying pathology. Bronchospy is useful for monitoring the child with a tracheostomy


INTRODUCCIÓN. La traqueostomía es un procedimiento quirúrgico antiguo, que se realiza en pediatría cada vez con mayor frecuencia. La broncoscopía es un procedimiento efectivo para el seguimiento del paciente con traqueostomía ya que nos revela datos que no se pueden obtener con otros métodos. Se tuvo como objetios determinar indicaciones, hallazgos broncoscópicos y mortalidad en pacientes con traqueostomía, en el Hospital del Niño Morelense (HNM). MÉTODOS. Estudio observacional, descriptivo y transversal. Se revisaron los expedientes de los pacientes a quienes se les realizó traqueostomía durante 5 años buscando hallazgos broncoscópicos. RESULTADOS. La principal indicación de traqueostomía fue la ventilación prolongada (74 por ciento). Los principales diagnósticos broncoscópicos fueron: estenosis subglótica (20 por ciento), granulomas en tráquea (70 por ciento) y en bronquios secreciones anormales (70 por ciento). La mortalidad fue de 32.5 por ciento. CONCLUSIONES. la principal indicación para traqueostomía fue la ventilación prolongada. la mortalidad en niños con traqueostomía depende principalmente de la patología subyacente. La broncoscopía es útil para el seguimiento del niño con traqueostomía


Asunto(s)
Humanos , Masculino , Femenino , Lactante , Niño , Adolescente , Complicaciones Posoperatorias/diagnóstico , Broncoscopía/métodos , Traqueostomía/métodos , Traqueostomía/mortalidad , Respiración Artificial/efectos adversos , Traqueostomía/efectos adversos , Estudios Transversales , Selección de Paciente , Obstrucción de las Vías Aéreas/cirugía , Obstrucción de las Vías Aéreas/etiología , Estudio Observacional , México/epidemiología
19.
Genome ; 60(1): 85-91, 2017 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-27996299

RESUMEN

Because of the tiny size of microhymenoptera, successful morphological identification typically requires specific mounting protocols that require time, skills, and experience. Molecular taxonomic identification is an alternative, but many DNA extraction protocols call for maceration of the whole specimen, which is not compatible with preserving museum vouchers. Thus, non-destructive DNA isolation methods are attractive alternatives for obtaining DNA without damaging sample individuals. However, their performance needs to be assessed in microhymenopterans. We evaluated six non-destructive methods: (A) DNeasy® Blood & Tissue Kit; (B) DNeasy® Blood & Tissue Kit, modified; (C) Protocol with CaCl2 buffer; (D) Protocol with CaCl2 buffer, modified; (E) HotSHOT; and (F) Direct PCR. The performance of each DNA extraction method was tested across several microhymenopteran species by attempting to amplify the mitochondrial gene COI from insect specimens of varying ages: 1 day, 4 months, 3 years, 12 years, and 23 years. Methods B and D allowed COI amplification in all insects, while methods A, C, and E were successful in DNA amplification from insects up to 12 years old. Method F, the fastest, was useful in insects up to 4 months old. Finally, we adapted permanent slide preparation in Canada balsam for every technique. The results reported allow for combining morphological and molecular methodologies for taxonomic studies.


Asunto(s)
ADN/genética , ADN/aislamiento & purificación , Insectos/clasificación , Insectos/genética , Museos , Animales , Complejo IV de Transporte de Electrones/genética , Análisis de Secuencia de ADN
20.
Artículo en Español | MEDLINE | ID: mdl-27419893

RESUMEN

BACKGROUND: The QT interval modification has been described in patients witrthritis (RA) and it could be a useful marker of cardiovascular morbidity and mortality. AIMS: To evaluate the QT interval modifications in patients with early arthritis (EA) and its association with disease activity (DA). METHODS: We studied patients with diagnosis of EA attended to Rheumatology Unit at Córdoba Hospital from January 2010 to December 2013. Control group was population age, gender and cardiovascular risk factors matched. Exclusion criteria were: myocardial infarction, arrhythmia, K level >5, or anti-arrhythmia treatment. ECG was performed by standard technique and QT interval was measured from the beginning of QRS to the end of T wave. QTC value was calculated by Bazzet formula. The activity disease was measured by Disease Activity Score (DAS 28), and was considered low disease activity below 3.2, and moderate / high disease activity more than 3,2. RESULTS: 31 patients were included with 83.9 % of females and the mean age was 41.9 years old and DAS 28 was 5.09. 31 persons were included as a control group with a mean age of 42.2 years old. QT interval was 0.376 mm/s and l QTC 0.408 in EA and QT was 0.381 mm/s and QTC 0.415 mm/s in the control group ( p= NS, p= NS). QT interval and QTC were 0.39 and 0.38 in low DA patients; 0.37 and 0.411 in Moderate / High DA ( p=NS) Conclusions: The QT interval was not modified and it was not related with DA in EA.


Asunto(s)
Artritis Reumatoide/complicaciones , Sistema de Conducción Cardíaco/fisiopatología , Síndrome de QT Prolongado/etiología , Adulto , Artritis Reumatoide/fisiopatología , Estudios Transversales , Electrocardiografía , Femenino , Humanos , Síndrome de QT Prolongado/diagnóstico , Síndrome de QT Prolongado/fisiopatología , Masculino , Factores de Riesgo , Índice de Severidad de la Enfermedad
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