Extubación ultra fast-track vs. convencional tras cirugía cardiaca en un centro de referencia cardiovascular en Colombia. Estudio longitudina / Ultra-fast-track extubation vs. conventional extubation after cardiac surgery in a cardiovascular reference centre in Colombia. A longitudinal study

Introducción: Los protocolos fast track y ultra fast-track son técnicas que permiten la optimización del proceso de atención del paciente y una rápida recuperación tras cirugía cardiaca. Actualmente se considera que la extubación temprana es un pilar de la práctica eficiente, en la medida en que con su uso se ha descrito una reducción en los tiempos de estancias hospitalaria y en la unidad de cuidados intensivos (UCI), con un impacto directo en los costos y en la calidad del servicio de salud. Objetivo: Comparar los tiempos de estancia en UCI, tiempo de estancia hospitalaria y mortalidad postoperatoria en pacientes con extubación ultra fast-track (EuFT) y en aquellos con extubación convencional (EC) tras cirugía cardiaca. Métodos: Estudio longitudinal, analítico, retrospectivo. Se incluyó como período de estudio el comprendido entre el momento de la cirugía y el alta hospitalaria. Resultados: Se incluyó a un total de 396 pacientes mayores de 18 años que requirieron cirugía cardiaca. De ellos, 207 pacientes tuvieron EuFT y 189, EC. A pesar de que los grupos no fueron comparables debido a las diferencias estadísticas encontradas, al realizar el ajuste multivariado, la EuFT mantuvo su independencia estadística y estuvo asociada a menor morbilidad cardiovascular, como isquemia miocárdica (IC 95%: 0,37-0,86; p = 0,01) y menor requerimiento de vasopresor posquirúrgico (IC 95%: 0,18-0,49; p < 0,01). No se encontraron diferencias significativas en los tiempos de estancia hospitalaria, estancia en UCI ni mortalidad postoperatoria en UCI. Conclusion: Implementando la estrategia EuFT, disminuye la morbilidad cardiovascular y el requerimiento vasopresor. El cambio a EuFT debe ser acompañado por cambios en modelos y prácticas de recuperación de los pacientes, como protocolos estandarizados. Por lo anterior, con este estudio se demuestra que en los pacientes con EuFT no disminuyen los tiempos de estancia en UCI, estancia hospitalaria ni mortalidad

Introduction: The fast track / ultra-fast-track protocols are techniques used to optimise the patient care process and a quick recovery after cardiac surgery. They are one of the mainstays of efficient practice. With their use, the length of hospital and intensive care unit (ICU) stays are reduced, with a direct impact on costs and the quality of the health service. Objective: To compare the length of stay in the ICU, length of hospital stay, and post-operative mortality in ultra-fast-track extubated (uFTE) patients and those with conventional extubation (CE) after cardiac surgery. Methods: Longitudinal, analytical, retrospective study was conducted, with the period between the time of surgery and discharge being included as the study period. Results: A total of 396 patients older than 18 years who required cardiac surgery were included, of whom 207 patients had (uFTE) and 189 had CE. Although the groups were not comparable due to the statistical differences found, when performing the multivariate adjustment, uFTE maintained its statistical independence and was associated with lower cardiovascular morbidity, such as myocardial ischaemia (95% CI: 0.37-0.86; P = .01) and lower post-surgical vasopressor requirement (95% CI: 0.18-0.49; P < .01). No significant differences were found in the length of hospital stay, ICU stay, or post-operative mortality in the ICU. Conclusion: Implementing the uFTE strategy, decreases cardiovascular morbidity and vasopressor requirement. The change to uFTE should be accompanied by changes in models and practices in patient recovery to standardised protocols. This study shows that uFTE did not reduce the length of ICU stay, hospital stay, or mortality

Ultra-fast-track extubation vs. conventional extubation after cardiac surgery in a cardiovascular reference centre in Colombia. A longitudinal study. / Extubación ultra fast-track vs. convencional tras cirugía cardiaca en un centro de referencia cardiovascular en Colombia. Estudio longitudinal.

INTRODUCTION: The fast track / ultra-fast-track protocols are techniques used to optimise the patient care process and a quick recovery after cardiac surgery. They are one of the mainstays of efficient practice. With their use, the length of hospital and intensive care unit (ICU) stays are reduced, with a direct impact on costs and the quality of the health service. OBJECTIVE: To compare the length of stay in the ICU, length of hospital stay, and post-operative mortality in ultra-fast-track extubated (uFTE) patients and those with conventional extubation (CE) after cardiac surgery. METHODS: Longitudinal, analytical, retrospective study was conducted, with the period between the time of surgery and discharge being included as the study period. RESULTS: A total of 396 patients older than 18 years who required cardiac surgery were included, of whom 207 patients had (uFTE) and 189 had CE. Although the groups were not comparable due to the statistical differences found, when performing the multivariate adjustment, uFTE maintained its statistical independence and was associated with lower cardiovascular morbidity, such as myocardial ischaemia (95% CI: 0.37-0.86; P = .01) and lower post-surgical vasopressor requirement (95% CI: 0.18-0.49; P < .01). No significant differences were found in the length of hospital stay, ICU stay, or post-operative mortality in the ICU. CONCLUSION: Implementing the uFTE strategy, decreases cardiovascular morbidity and vasopressor requirement. The change to uFTE should be accompanied by changes in models and practices in patient recovery to standardised protocols. This study shows that uFTE did not reduce the length of ICU stay, hospital stay, or mortality.

BACE1-Deficient Mice Exhibit Alterations in Immune System Pathways.

BACE1 encodes for the beta-site amyloid precursor protein cleaving enzyme 1 or ß-secretase. Genetic deletion of Bace1 leads to behavioral alterations and affects midbrain dopaminergic signaling and memory processes. In order to further understand the role of BACE1 in brain function and behavior, we performed microarray transcriptome profiling and gene pathway analysis in the hippocampus of BACE1-deficient mice compared to wild type. We identified a total of 91 differentially expressed genes (DEGs), mostly enriched in pathways related to the immune and inflammation systems, particularly IL-9 and NF-κB activation pathways. Serum levels of IL-9 were elevated in BACE1-deficient mice. Our network analysis supports an intimate connection between immune response via NF-κB and BACE1 signaling through the NRG1/Akt1 pathway. Our findings warrant future mechanistic studies to determine if BACE1 signaling and the IL-9 pathway interact to alter behavior and brain function. This study opens new avenues in the investigation of hippocampus-related neuroimmunological and neuroinflammation-associated disorders.

[Frequency of single nucleotide polymorphisms and alpha-synuclein haplotypes associated with sporadic Parkinson's disease in the Mexican population]. / Frecuencia de polimorfismos de nucleotido unico y haplotipos de alfa-sinucleina asociados con la enfermedad de Parkinson esporadica en poblacion mexicana.

INTRODUCTION: Parkinson's disease (PD) is a common neurodegenerative disease which begins in adulthood. Its incidence in Mexico is estimated to be 40-50 cases per 100,000 inhabitants/year and is the fourth reason for medical care in the National Institute of Neurology and Neurosurgery. The protein alpha-synuclein, SNCA, plays a key role in the pathology of PD, and its polymorphisms have been associated with an increased risk of developing the disease. AIM: To evaluate the risk of PD represented by the polymorphisms rs2619364, rs2619363, rs2736990, rs7684318, rs17016074, rs356219, rs356220 and rs356203 of SNCA in a sample of Mexican subjects. SUBJECTS AND METHODS: Altogether 171 patients diagnosed with PD and 171 gender- and age-paired controls were assessed by means of real-time polymerase chain reaction, and a statistical analysis was performed to determine the association between the polymorphisms and the disease. RESULTS: The SNCA variants rs356220, rs356203, rs7684318 and rs2736990 were associated with the disease and form two haplotypes with a high risk of developing sporadic PD in the Mexican population. CONCLUSIONS: Variations in SNCA are a risk factor for the development of PD and can act as specific genetic biomarkers as a diagnostic support tool in sporadic PD for Mexican mestizo patients.

TITLE: Frecuencia de polimorfismos de nucleotido unico y haplotipos de alfa-sinucleina asociados con la enfermedad de Parkinson esporadica en poblacion mexicana.Introduccion. La enfermedad de Parkinson (EP) es una entidad neurodegenerativa comun de inicio en la etapa adulta. Su incidencia en Mexico se estima en 40-50 casos por 100.000 habitantes/año y constituye la cuarta causa de atencion medica en el Instituto Nacional de Neurologia y Neurocirugia. La proteina alfa-sinucleina, SNCA, es clave en la patologia de la EP y sus polimorfismos se han asociado a un riesgo aumentado de desarrollarla. Objetivo. Evaluar el riesgo que representan los polimorfismos rs2619364, rs2619363, rs2736990, rs7684318, rs17016074, rs356219, rs356220 y rs356203 de SNCA en una muestra de sujetos mexicanos para la EP. Sujetos y metodos. Se evaluaron 171 pacientes con diagnostico de EP y 171 controles pareados por sexo y edad mediante reaccion en cadena de la polimerasa en tiempo real, y se realizo un analisis estadistico para determinar la asociacion de los polimorfismos con la enfermedad. Resultados. Las variantes rs356220, rs356203, rs7684318 y rs2736990 de SNCA estan asociadas a la enfermedad y forman dos haplotipos de riesgo elevado para desarrollar EP esporadica en la poblacion mexicana. Conclusiones. Las variaciones en SNCA son un factor de riesgo para desarrollar EP y pueden ser biomarcadores geneticos especificos para pacientes mestizos mexicanos como herramienta de apoyo diagnostico en la EP esporadica.

CYP2C9, CYP2C19, ABCB1 genetic polymorphisms and phenytoin plasma concentrations in Mexican-Mestizo patients with epilepsy.

We aimed to explore the possible influence of CYP2C9 (*2, *3 and IVS8-109 A>T), CYP2C19 (*2, *3 and *17) and ABCB1 (1236C>T, 2677G>A/T and 3435C>T) on phenytoin (PHT) plasma concentrations in 64 Mexican Mestizo (MM) patients with epilepsy currently treated with PHT in mono- (n=25) and polytherapy (n=39). Genotype and allele frequencies of these variants were also estimated in 300 MM healthy volunteers. Linear regression models were used to assess associations between the dependent variables (PHT plasma concentration and dose-corrected PHT concentration) with independent variables (CYP2C9, CYP2C19 and ABCB1 genotypes, ABCB1 haplotypes, age, sex, weight, and polytherapy). In multivariate models, CYP2C9 IVS8-109 T was significantly associated with higher PHT plasma concentrations (t(64)=2.27; P=0.03). Moreover, this allele was more frequent in the supratherapeutic group as compared with the subtherapeutic group (0.13 versus 0.03, respectively; P=0.05, Fisher's exact test). Results suggest that CYP2C9 IVS8-109 T allele may decrease CYP2C9 enzymatic activity on PHT. More research is needed to confirm findings.

Misidentification of two Brazilian triatomes, Triatoma arthurneivai and Triatoma wygodzinskyi, revealed by geometric morphometrics.

Triatoma arthurneivai Lent & Martins and Triatoma wygodzinskyi Lent (Hemiptera: Reduviidae) are two Brazilian species found in the sylvatic environment. Several authors may have misidentified T. arthurneivai and consequently published erroneous information. This work reports the use of geometric morphometric analysis on wings in order to differentiate T. arthurneivai and T. wygodzinskyi, and thus to detect possible misidentifications. Triatomines collected from the field in the states of Minas Gerais and São Paulo, and from laboratory colonies, were used. Analyses show a clear differentiation between specimens of T. arthurneivai and T. wygodzinskyi. This indicates that T. arthurneivai populations from São Paulo state were misidentified and should be considered as T. wygodzinskyi. This study also suggests that T. arthurneivai is an endemic species from Serra do Cipó, Minas Gerais state.

Deciphering morphology in Triatominae: the evolutionary signals.

Many species of Triatominae show evidence for morphological plasticity. Frequent taxonomic questions arose from this variability leading to disputes about describing new subspecies, species or even genera. We suggest this phenotypic flexibility is primarily an intraspecific feature, but with potential for evolutionary changes. We present arguments for a selection regime leading to the separation of species having low developmental canalization into morphologically distinct ecotypes. We suggest that these ecotypes, or morphs, or forms, may have evolutionary importance even if gene flow still exists between them. Thus, although we consider the morphological plasticity of Triatominae as an intraspecific trait, we defend the idea that it might represent a common evolutionary route to new species. Speciation processes in Triatominae could result from disruptive selection regimes combined with weak developmental canalization. Added to this basic pattern, accidental events could hasten evolutionary change. We suggest the heterosis as one of them.

Chromosomal variation and genome size support existence of cryptic species of Triatoma dimidiata with different epidemiological importance as Chagas disease vectors.

The wide geographical distribution of Triatoma dimidiata, one of the three major vectors of Chagas disease, ranges from Mexico to northern Peru. Since this species occupies a great diversity of artificial and natural ecotopes, its eradication is extremely difficult. In order to assist control efforts, we used chromosome analyses and DNA amount as taxonomic markers to study genetic variability in populations of T. dimidiata from Mexico, Guatemala, El Salvador and Colombia. We differentiated three groups or cytotypes defined by characteristic chromosome C-banding patterns and genome size measured by flow cytometry. The three cytotypes are restricted to different geographic locations. Cytotype 1 occurs in Mexico (excluding Yucatán), Guatemala (excluding Petén), El Salvador and Colombia. Cytotype 2 occurs in Yucatán and cytotype 3 occurs in Petén. Cytotype 1, commonly associated with domestic and peridomestic environments but also inhabiting sylvatic ecotopes, is the most widespread and with major epidemiological significance. In contrast, the Yucatán cytotype inhabits wild ecotopes but increasingly enters houses, while the Petén cytotype appears exclusively sylvatic. We suggest that these cytotypes represent cryptic species of T. dimidiata with different epidemiological relevance as Chagas disease vectors. Poor ability to colonize human dwellings, together with their restricted geographic distribution, indicate that the Yucatán and Petén putative species probably have much less epidemiological significance than cytotype 1. Thus, the genetic markers we describe are powerful tools to differentiate cryptic species in T. dimidiata with different epidemiological significance, contributing to planning the most effective control measures.

Adherencia al tratamiento de pacientes diagnosticados con HPB y manejados con alfabloqueadores / Adherences when dealing with patients diagnosed with BPH and treated with alpha blockers

El tratamiento de los síntomas urinarios bajos secundarios a la hiperplasia prostática benigna (HPB) cambió de manera importante desde la aparición de los alfabloqueadores. La HPB constituye un problema mayor de salud en los hombres y afecta especialmente a los individuos mayores de 50 años(2). Previo a 1980, la prostatectomía era la única intervención ampliamente aceptada para HPB(1). La cirugía continúa siendo el tratamiento más frecuente de los síntomas obstructivos del tracto urinario de salida. El procedimiento quirúrgico de resección transuretral de próstata (RTUP), es mucho más común que la prostatectomía abierta. La RTUP es efectiva para reducir los síntomas excepto en aquellos en los que eran inicialmente leves(3) (4). El entusiasmo por la terapia medicamentosa ha sido soportado en parte por las limitaciones de la prostatectomía, que incluye morbilidad del procedimiento quirúrgico, fallas para conseguir un resultado exitoso, y la necesidad de reintervención en un porcentaje de pacientes. Aunque la terapia medicamentosa no alcanza los mismos niveles de eficacia que la prostatectomía y su uso se limita a los casos moderados o leves, su atractivo es que los resultados clínicos se obtienen con menores, menos serios y reversibles efectos secundarios.

Changes associated with laboratory rearing in antennal sensilla patterns of Triatoma infestans, Rhodnius prolixus, and Rhodnius pallescens (Hemiptera, Reduviidae, Triatominae).

We examined changes in the array of antennal sensilla of three species of Triatominae (Triatoma infestans, Rhodnius prolixus, and R. pallescens) following their establishment for different periods in laboratory culture. In each case, the laboratory colonies were compared with conspecific samples taken directly from the field, by quantitative analysis of the sensilla arrays on the three distal segments of the antenna in terms of the densities of three types of chemoreceptors (basiconics and thick and thin walled trichoids) and one type of mechanoreceptor (bristles). Sensilla densities were compared by ANOVA or non-parametric tests, and by multivariate discriminant analysis. Strains of the same species reared in different laboratories showed significant differences in their sensilla arrays, especially when compared to field-collected material from the same geographic origin. A Bolivian strain of T. infestans reared in the laboratory for 15 years and fed at monthly intervals, showed greatest differences from its conspecific wild forms, especially in terms of reductions in the number of chemoreceptors. By contrast, an Argentine strain of T. infestans reared for 25 years in the laboratory and fed weekly, showed a relative increase in the density of mechanoreceptors. A Colombian strain of R. prolixus reared for 20 years and fed weekly or fortnightly, showed only modest differences in the sensilla array when compared to its wild populations from the same area. However, a Colombian strain of R. pallescens reared for 12 years and fed fortnightly, did show highly significant reductions in one form of chemoreceptor compared to its conspecific wild populations. For all populations, multivariate analysis clearly discriminated between laboratory and field collected specimens, suggesting that artificial rearing can lead to modifications in the sensory array. This not only supports the idea of morphological plasticity in these species, but also suggests caution in the use of long-established laboratory material for experimental studies designed to extrapolate the natural behaviour and physiology of these species.

Changes associated with laboratory rearing in antennal sensilla patterns of Triatoma infestans, Rhodnius prolixus, and Rhodnius pallescens (Hemiptera, Reduviidae, Triatominae)

We examined changes in the array of antennal sensilla of three species of Triatominae (Triatoma infestans, Rhodnius prolixus, and R. pallescens) following their establishment for different periods in laboratory culture. In each case, the laboratory colonies were compared with conspecific samples taken directly from the field, by quantitative analysis of the sensilla arrays on the three distal segments of the antenna in terms of the densities of three types of chemoreceptors (basiconics and thick and thin walled trichoids) and one type of mechanoreceptor (bristles). Sensilla densities were compared by ANOVA or non-parametric tests, and by multivariate discriminant analysis. Strains of the same species reared in different laboratories showed significant differences in their sensilla arrays, especially when compared to field-collected material from the same geographic origin. A Bolivian strain of T. infestans reared in the laboratory for 15 years and fed at monthly intervals, showed greatest differences from its conspecific wild forms, especially in terms of reductions in the number of chemoreceptors. By contrast, an Argentine strain of T. infestans reared for 25 years in the laboratory and fed weekly, showed a relative increase in the density of mechanoreceptors. A Colombian strain of R. prolixus reared for 20 years and fed weekly or fortnightly, showed only modest differences in the sensilla array when compared to its wild populations from the same area. However, a Colombian strain of R. pallescens reared for 12 years and fed fortnightly, did show highly significant reductions in one form of chemoreceptor compared to its conspecific wild populations. For all populations, multivariate analysis clearly discriminated between laboratory and field collected specimens, suggesting that artificial rearing can lead to modifications in the sensory array. This not only supports the idea of morphological plasticity in these species, but also suggests caution in the use of long-established laboratory material for experimental studies designed to extrapolate the natural behaviour and physiology of these species.

New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia.

Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal disorder exhibiting a wide clinical spectrum ranging from minimal anomalies to classic CCD. Mutations scattered throughout the entire CBFA1 gene have been related to this disorder. However, it seems that most of them affect the highly conserved Runt domain, abolishing the DNA-binding ability of this transcription factor. Moreover, no systematic effect has been found to relate the type of mutation to the severity of the clinical features. In this paper, we studied two unrelated patients with classic CCD. DNA analysis revealed two novel mutations and three undescribed polymorphisms. One of the substitutions was a missense mutation in the Q/A domain leading to the replacement of a polar residue by a nonpolar one (158 A --> T [Q53L]). The second was an uncommon heterozygous stop codon mutation (1565 G --> C [X522S]) which theoretically results in a longer protein with 23 additional amino acids. This is the first report of this type of mutation in CBFA1. We discuss the possible consequences of these mutant sequences, although no phenotype-genotype correlation could be established. Our findings expand the existing number of allelic variants in this pathology.

Del Xq23 in a mosaic Turner female: molecular and cytogenetic studies.

We report a Turner patient aged 22 years with a 45,X/46,X,del(X)(q23) karyotype. Late replication studies showed preferential inactivation of the deleted X chromosome; FISH studies with a probe for total human telomeres showed hybridisation signal in the telomeres on both the normal and the deleted X chromosomes. Microsatellite analysis in the proposita and her family permitted us to conclude to the maternal origin of the deleted X chromosome, and to detect using the marker DXS1106 (Xq22) a probable meiotic recombination event above the breakage point suggesting that the deletion occurred underneath this point. The mild Turner stigmata may be explained by the 45,X cell line, and the gonadal dysgenesis probably by a partial deletion of the gonadal dysgenesis region Xq13-q23 (excluding Xq22).

[Factorial and discriminant analyses of neuropsychological variables in familial and sporadic late onset Alzheimer disease]. / Anàlisis factorial y discriminante de variables neuropsicológicas en la demencia tipo Alzheimer de inicio tardío, familiar y esporádica.

INTRODUCTION: Prevalence of late onset Alzheimer's disease (LOAD) both familial and sporadic is increasing with the raising proportion of third-age population. There are evidences either supporting or rejecting the existence of differences in the behavior of neuropsychological variables between familial and sporadic cases of LOAD. OBJECTIVE: To identify neuropsychological variables discriminating between familial and sporadic cases of LOAD, in order to detect clinical manifestations that may provide information on the pathological process of the neurodegenerative process. PATIENTS AND METHODS: Using sequential sampling, we selected individuals affected by LOAD according to the criteria of the DSM-IV and NINCS-ADRDA. The following neuropsychological protocol was used: CERAD, Wisconsin, Phonological Fluency, Rey's Figure, Raven, A Cancellation Test, WAIS (Arithmetic); also used were: Global Deterioration Scale, Functional Assessment Staging of Reisberg (FAST), Barthel and Yesavage. Parametrical and non-parametrical univariate, factorial (principal components) and discriminant analyses were performed. In total, 52 patients were analyzed (average age: 74.8 years; mean age at onset of the disease: 69 years; time of disease's evolution: 5.7 years; average of educational level: 6.4 years). RESULTS: No significant statistical differences were found in clinical or neuropsychological variables between familial and sporadic cases of LOAD. Additionally, neither variables nor models were detected discriminating significantly between them. CONCLUSION: Familial and sporadic cases of LOAD present the same clinical and neuropsychological phenotype which makes very probable that sporadic cases are low penetrance familial ones.

Análisis factorial y discriminante de variables neuropsicológicas en la demencia tipo Alzheimer de inicio tardío, familiar y esporádica / Factorial and discriminant analyses of neuropsychological variables in familial and sporadic late onset Alzheimer disease

Introducción. La prevalencia de demencia tipo Alzheimer de inicio tardío (DTAIT) va en aumento, dado el mayor porcentaje de población de la tercera edad. Existen evidencias a favor y en contra de que el comportamiento de las variables neuropsicológicas es diferente entre los casos familiares y los esporádicos de DTAIT. Objetivo. Identificar variables neuropsicológicas que discriminen entre DTAIT familiar y esporádica, con el fin de detectar manifestaciones clínicas particulares que informen sobre el proceso fisiopatológico del síndrome. Pacientes y métodos. Mediante muestreo secuencial se seleccionaron individuos con DTAIT según los criterios del DSM-IV y NINCS-ADRDA. Se utilizó el siguiente protocolo neuropsicológico: CERAD, Wisconsin, fluidez fonológica, figura de Rey, Raven, cancelación de la A, WAIS (prueba aritmética); además, se emplearon: la escala de deterioro global, la escala funcional de Reisberg, el índice de Barthel y Yesavage. Se realizaron los siguientes análisis: univariado mediante pruebas paramétricas y no paramétricas; factorial mediante estudio de componentes principales, y discriminante. Se estudiaron 52 pacientes cuya edad promedio al inicio de la demencia era de 69 años, con una media de 74,8 años en el momento de la evaluación, 5,7 años como media de evolución de la enfermedad y una escolaridad media de 6,4 años. Resultados. No se encontraron diferencias estadísticas significativas, clínicas y neuropsicológicas, entre ambos grupos, ni variables o modelos que discriminaran significativamente entre uno y otro. Conclusión. Las DTAIT familiar y esporádica presentaron en la población investigada el mismo fenotipo clínico y neuropsicológico, lo que hace muy probable que los casos esporádicos sean casos familiares con baja penetrancia (AU)