Data on the cytotoxicity of chlorogenic acid in 3D cultures of HT-29 cells.

Functional foods, beyond basic nutrition, offer health benefits to consumers thanks to the presence of bioactive compounds such as some phytochemicals [1,2]. Today, these foods are of particular interest in biomedical research due to their chemopreventive potential, as they have been shown to induce various biological effects on tumor cells, including the ability to inhibit cell proliferation, induce apoptosis, arrest cell cycle progression, and increase reactive oxygen species [3,4]. Multiple studies have confirmed the relationship between diet and the onset and progression of colorectal cancer (CRC), a malignant neoplasm that arises in the lining of the colon and/or rectum. Therefore, finding foods that can intervene in the carcinogenesis process is an important avenue of research [5,6]. Chlorogenic acid (CGA) is one of the most abundant phenolic compounds in coffee and is also found in fruits and vegetables. Scientific evidence suggests that CGA has chemopreventive potential on CRC cells [7], [8], [9]. For example, in previous studies conducted by our research group, green and roasted coffee extracts were characterized, and this compound was identified as the most abundant [7]. In addition, it was found to significantly decrease cell viability, reduce migration capacity, cause DNA fragmentation, and induce the production of reactive oxygen species in colorectal adenocarcinoma cells cultured in monolayer and treated with different doses of CGA. Furthermore, the mechanism underlying this biological activity has been related to CGA's ability to modulate the Wnt- /ß-catenin pathway, which is implicated in the development and progression of CRC [7,10,11]. This paper presents data on the cytotoxic response of CGA treatments on HT-29 cells cultured in a 3D model. To this end, morphological changes in cell spheroids, propidium iodide and DiOC6 uptake, quantification of reactive oxygen species (ROS) production, phosphatidylserine exposure, and cell cycle progression were evaluated by flow cytometry.

Expression of hes, iha, and tpsA codified in locus of adhesion and autoaggregation and their involvement in the capability of shiga toxin-producing Escherichia coli strains to adhere to epithelial cells.

OBJECTIVES: Shiga toxin-producing Escherichia coli strains LAA-positive are important cause of human infection. The capability to adhere to epithelial cells is a key virulence trait, and genes codified in LAA pathogenicity island could be involved in the adhesion during the pathogenesis of LAA-positive STEC strains. Thus, our objectives were to compare hes-negative and hes-positive STEC strains in their adherence capability to epithelial cells (HEp-2) and to evaluate the expression levels of the hes, iha, and tpsA in the bacteria adhered and non-adhered to HEp-2 cells. These genes are encoded in LAA, and are virulence factors that participate in adhesion and autoaggregation. RESULTS: We could not observe differences between the adhesion of strains but also in the expression level of of hes, iha, and tpsA. Genes encoded in LAA contribute to the adhesion phenotype though the expression of STEC adhesins is a coordinated event that depends not only the strain but also on the environment as well as its genetic background. Therefore, the results of this study suggest that LAA ,the most prevalent PAI among LEE-negative STEC strains, plays a role in pathogenesis.

Antioxidant capacity and cytotoxic effect of an optimized extract of isabella grape (Vitis labrusca) on breast cancer cells.

The phenolic profile of Isabella grape (Vitis labrusca) offers beneficial properties to human health and makes it a functional food product. In order to better understand the phenolic compounds found in this grape variety and the biological effect they induce on breast cancer cells, an ultrasound-assisted extraction was carried out. During the extraction of polyphenols from Isabella grapes organically grown in Antioquia (Colombia), parameters such as frequency (33 kHz and 40 kHz), time and solvent were optimized to finally obtain a crude extract with antioxidant properties (Oxygen Radical Absorbance Capacity, ORAC: 293.22 ± 34.73 µmol of Trolox/g of sample), associated with a total polyphenol content (TPC) of 43.14 ± 5.00 mg GAE/g sample and a total anthocyanin content composed of 17.69 ± 2.59 mg of malvidin-3-glucoside/100 g of sample. MCF-7 breast cancer cells were treated with different concentrations of the optimized extract, and results show a decrease in cell viability related to mitochondrial membrane depolarization, ROS increase, and chromatin condensation. To determine the possible death induction mechanism, molecular docking was simulated to predict the molecular interactions between the most abundant phenolic compounds in Isabella grape and the main apoptosis-related proteins. The results obtained from in silico and in vitro experiments were consistent with each other, suggesting that the phenolic compounds found in Isabella grape can be considered potential adjuvant chemopreventive agents for the treatment of breast cancer.

Escherichia coli productora de toxina Shiga: el desafío de adherirse para sobrevivir / Shiga toxin producing Escherichia coli: the challenge of adherence to survive

Resumen Las cepas de Escherichia coli productoras de toxina Shiga (STEC) son reconocidas como responsables de un alto número de casos de enfermedades de transmisión alimentaria a nivel mundial. Su patogenicidad ha sido vinculada directamente con la actividad de las toxinas (Stx); sin embargo, la habilidad de estas bacterias para colonizar al huésped y otras superficies puede ser esencial para desarrollar su poder patogénico. La gran plasticidad genómica de cepas STEC se infiere de la variabilidad de perfiles de virulencia, con la frecuente emergencia de cepas con nuevos genes, codificados en nuevas islas de patogenicidad vinculadas al metabolismo y la adherencia. La formación de biofilm es un mecanismo espontáneo por el cual las cepas STEC resisten en un ambiente hostil, lo que les permite sobrevivir y, de esa forma, llegar al huésped, a través de los alimentos o de las superficies que están en contacto con ellos. Este mecanismo presenta una alta variabilidad intra e interserotipo y su desarrollo no depende solo de los microorganismos que lo conforman. Factores inherentes al ambiente (pH, temperatura) y la superficie (acero inoxidable, poliestireno) a la que pueden adherirse influyen en la expresión de biofilm. El concepto «una salud¼ implica la interrelación entre los actores de salud pública, animal y ambiental para lograr alimentos inocuos y evitar contaminación cruzada y resistencia a sanitizantes, lo cual pone de manifiesto la necesidad de identificar patógenos emergentes a través de nuevos marcadores moleculares, que detecten cepas STEC portadoras del denominado locus for enterocyte effacement (LEE) o del locus de adherencia y autoagregación (LAA).

Abstract Shiga Toxin-producing Escherichia coli (STEC) is recognized as being responsible for a large number of foodborne illnesses around the world. The pathogenicity of STEC has been related to Stx toxins. However, the ability of STEC to colonize the host and other surfaces can be essential for developing its pathogenicity. Different virulence profiles detected in STEC could cause the emergence of strains carrying new genes codified in new pathogenicity islands linked to metabolism and adherence. Biofilm formation is a spontaneous mechanism whereby STEC strains resist in a hostile environment being able to survive and consequently infect the host through contaminated food and food contact surfaces. Biofilm formation shows intra-and inter-serotype variability, and its formation does not depend only on the microorganisms involved. Other factors related to the environment (such as pH, temperature) and the surface (stainless steel and polystyrene) influence biofilm expression. The «One Health¼ concept implies the interrelation between public, animal, and environmental health actors to ensure food safety, prevent cross-contamination and resistance to sanitizers, highlighting the need to identify emerging pathogens through new molecular markers of rapid detection that involve STEC strains carrying the Locus of Enterocyte Effacement or Locus of Adhesion and Autoaggregation.

Biogenic selenium nanoparticles with antifungal activity against the wood-rotting fungus Oligoporus pelliculosus.

Selenium nanoparticles (SeNPs) have antimicrobial and antifungal activity. SeNPs using Se resistant bacteria is a low cost and eco-friendly technology. Fungal contamination of wood during drying is one of the main causes of economic losses in the wood industry. The bacterium Delftia sp. 5 resistance to Se and its ability to produce SeNPs able to inhibit the growth of the wood brown-rotting fungus Oligoporus pelliculosus was analyzed. The strain showed an optimal SeNPs production when selenite concentration was 160 mg L -1. The SeNPs were spherical with an average size 192.33 ± 8.6 nm and a zeta potential of -41.4 ± 1.3 nm. The SeNPs produced by Delftia sp. 5 (33.6 ± 0.1 mg L -1 Se) inhibited the growth of O. pelliculosus in agar plates and in Nothofagus pumilio (Lenga) wood samples. Delftia sp. 5 SeNPs could be used for embedding lenga wood prior to drying for preventing the growth of the deteriorating fungi O. pelliculosus.

[Shiga toxin producing Escherichia coli: the challenge of adherence to survive]. / Escherichia coli productora de toxina Shiga: el desafío de adherirse para sobrevivir.

Shiga Toxin-producing Escherichia coli (STEC) is recognized as being responsible for a large number of foodborne illnesses around the world. The pathogenicity of STEC has been related to Stx toxins. However, the ability of STEC to colonize the host and other surfaces can be essential for developing its pathogenicity. Different virulence profiles detected in STEC could cause the emergence of strains carrying new genes codified in new pathogenicity islands linked to metabolism and adherence. Biofilm formation is a spontaneous mechanism whereby STEC strains resist in a hostile environment being able to survive and consequently infect the host through contaminated food and food contact surfaces. Biofilm formation shows intra-and inter-serotype variability, and its formation does not depend only on the microorganisms involved. Other factors related to the environment (such as pH, temperature) and the surface (stainless steel and polystyrene) influence biofilm expression. The «One Health¼ concept implies the interrelation between public, animal, and environmental health actors to ensure food safety, prevent cross-contamination and resistance to sanitizers, highlighting the need to identify emerging pathogens through new molecular markers of rapid detection that involve STEC strains carrying the Locus of Enterocyte Effacement or Locus of Adhesion and Autoaggregation.

[Alkaptonuria: evolution and course of the disease towards ochronotic arthropathy. Series of cases managed with joint replacement]. / Alcaptonuria: evolución y curso de la enfermedad hacia artropatía ocronótica. Serie de casos manejados con reemplazo articular.

INTRODUCTION: alkaptonuria is a very rare metabolic disease with autosomal recessive inheritance due to HGA oxidase deficiency. Classically described and diagnosed in the third to fourth decade of life, affecting both men and women; Its diagnostic impression is clinical based on the blue/black coloration of the conjunctivae, however it is confirmed by the specific analysis of the enzyme in the urine, to date there is no cure and its treatment is palliative and symptomatic. MATERIAL AND METHODS: descriptive, observational, case series study, the primary objective of which is to describe the progression of the disease and its involvement in the musculoskeletal system. RESULTS: two clinical cases are presented in women and men in which the broad clinic is illustrated, its progressive advance and the different alterations that it can generate in the musculoskeletal system. CONCLUSIONS: alkaptonuria is a rare disease which leads to a severe secondary arthropathy, currently without a specific management which is based on treating the symptoms, in its final stages joint replacements are a management option with satisfactory results for the relief of pain.

INTRODUCCIÓN: la alcaptonuria es una enfermedad metabólica inusual, de herencia autosómica recesiva dada por la deficiencia de la oxidasa de HGA. Clásicamente descrita y diagnosticada sobre la tercera a cuarta década de la vida, la cual tiene afectación en ambos sexos, su impresión diagnóstica es clínica, basándose en la coloración azul/negro de las conjuntivas; sin embargo, se confirma mediante el análisis específico de la enzima en la orina, actualmente no existe un tratamiento definitivo, sólo alternativas en cuanto a lo paliativo y sintomático. MATERIAL Y MÉTODOS: estudio descriptivo, observacional, de tipo serie de casos, como objetivo primario se describe la progresión de la enfermedad y su compromiso en el sistema musculoesquelético. RESULTADOS: se presentan dos casos clínicos en mujer y hombre, los cuales ilustran: variedad clínica, avance progresivo y las alteraciones que puede generar en el sistema musculoesquelético. CONCLUSIONES: la alcaptonuria es una enfermedad rara, la cual conlleva una artropatía secundaria severa, sin un tratamiento definitivo dirigido a tratar los síntomas, incluso en sus estadios finales los reemplazos articulares son una opción para proporcionar manejo del dolor obteniendo resultados satisfactorios.

Psychogenic non-epileptic and epileptic seizures: clues for a differential diagnosis. Findings from a Colombian study. / Crisis psicogenas no epilepticas y crisis epilepticas: pistas para un diagnostico diferencial. Hallazgos de un estudio colombiano.

INTRODUCTION: Psychogenic non-epileptic seizures (PNES) are paroxysmal changes in behavior that resemble epileptic seizures, although they have no electrophysiological correlation or clinical evidence of epilepsy. AIM: To compare clinical and sociodemographic characteristics of patients diagnosed with PNES-alone and PNES-and-epilepsy. PATIENTS AND METHODS: A cross-sectional study of consecutive patients diagnosed with PNES in a 20-month period was carried out. A video-EEG was performed in all patients. Socio-demographical, clinical and semiological characteristics were compared between those patients with and without concomitant epilepsy. RESULTS: Sixty-five patients were included, 35 (53.9%) had PNES-alone and 30 (46.1%) had PNES-and-epilepsy. The proportion of women in the study was 70.8%. The median age at seizure onset was 16 years. A late start was recorded in PNES-alone group (23 years) compared to PNES-and-epilepsy group (11 years), however, it was not significant. There was a lower frequency of antiepileptic drugs use in the PNES-alone group compared with the PNES-and-epilepsy group. The most frequent semiological features were the gradual onset of events (69.2%) and the duration longer than two minutes (63.1%). CONCLUSION: The waxing and waning pattern during paroxysmal events suggest a non-epileptic origin. However, it is not uncommon to find patients with concomitant epileptic seizures.

TITLE: Crisis psicogenas no epilepticas y crisis epilepticas: pistas para un diagnostico diferencial. Hallazgos de un estudio colombiano.Introduccion. Las crisis psicogenas no epilepticas (CPNE) son cambios paroxisticos en el comportamiento que se asemejan a las crisis epilepticas, aunque no tienen correlacion electrofisiologica ni evidencia clinica de epilepsia. Objetivo. Comparar las caracteristicas clinicas y sociodemograficas entre pacientes diagnosticados con CPNE, con y sin epilepsia concomitante. Pacientes y metodos. Estudio transversal de pacientes consecutivamente diagnosticados de CPNE durante un periodo de 20 meses. A todos los participantes se les realizo un videoelectroencefalograma (video-EEG). Se compararon las caracteristicas sociodemograficas, clinicas y semiologicas entre los que presentaban y los que no presentaban epilepsia concomitante. Resultados. Se incluyo a 65 pacientes, 35 con CPNE (53,9%), y 30 con CPNE y epilepsia (46,1%). La edad mediana en el inicio del video-EEG fue de 33 años, y un 70,8% eran mujeres. La edad mediana de inicio de las crisis fue de 16 años. En el grupo de CPNE hubo un inicio mas tardio (23 años) en comparacion con el grupo de CNPE y epilepsia (11 años), pero la diferencia no fue significativa. La proporcion de pacientes en terapia con farmacos antiepilepticos fue significativamente mayor en el grupo con CPNE y epilepsia comparado con el grupo con CPNE. Las caracteristicas semiologicas mas frecuentemente encontradas fueron el inicio gradual de las crisis (69,2%) y una duracion de mas de dos minutos (63,1%). Conclusion. La variabilidad en los sintomas sugiere un origen no epileptico de los eventos paroxisticos, los cuales se presentan frecuentemente en pacientes con epilepsia.

Behavior and gut bacteria of Partamona helleri under sublethal exposure to a bioinsecticide and a leaf fertilizer.

The exposure of bees to agrochemicals during foraging and feeding has been associated with their population decline. Sublethal exposure to agrochemicals can affect behavior and the microbiota. Gut microbiota is associated with insect nutritional health, immunocompetence, and is essential for neutralizing the damage caused by pathogens and xenobiotics. Research on the effect of the bioinsecticides and fertilizers on the microbiota of bees remains neglected. In this study, we assessed the sublethal effect of both bioinsecticide spinosad and the fertilizer copper sulfate (CuSO4) on the behavior and gut microbiota in forager adults of the stingless bee Partamona helleri (Friese), which is an important pollinator in the Neotropical region. Behavioral assays and gut microbiota profiles were assessed on bees orally exposed to estimated LC5 values for spinosad and CuSO4. The microbiota were characterized through 16S rRNA gene target sequencing. Acute and oral sublethal exposure to spinosad and CuSO4 did not affect the overall activity, flight take-off, and food consumption. However, CuSO4 decreased bee respiration rate and copper accumulated in exposed bees. Exposure to spinosad increased the proportional abundance of the genus Gilliamella, but CuSO4 did not alter the composition of the gut microbiota. In conclusion, sublethal exposure to CuSO4 induces changes in respiration, and spinosad changes the abundance of gut microorganisms of P. helleri.

Age at natural menopause and physical function in older women from Albania, Brazil, Colombia and Canada: A life-course perspective.

OBJECTIVE: Grip strength and gait speed are objective measures of physical function, which in turn is an indicator of biological aging. We evaluate the association between age at natural menopause (ANM) and physical functioning in a sample of postmenopausal women drawn from the International Mobility in Aging Study (IMIAS). STUDY DESIGN: Retrospective cohort study of 775 women aged 65-74, from Albania, Brazil, Colombia and Canada, who had experienced natural menopause. MAIN OUTCOME MEASURES: Gait speed and grip strength were obtained following standardized protocols. The association between self-reported ANM (<40, 40-44, 45-49, 50-54 and ≥55) and gait speed (m/s) and grip strength (kg) was assessed by linear regression analyses adjusting for several life-course economic and reproductive exposures, height, BMI and smoking. RESULTS: Overall, women with ANM ≥ 55 had higher gait speed than those with ANM 50-54 (ß = 0.05; 95%CI: 0.01, 0.10). Women with ANM < 40 had significantly lower grip strength compared with all other groups (ß= -2.58; 95%CI: -4.43, -0.74). In region-specific analyses, ANM was associated with grip strength in Albania and Latin America and with gait speed in Albania only. No associations were observed in Canada. CONCLUSIONS: ANM is associated with markers of physical functioning. Differences across study sites suggest that women in socially disadvantaged areas may reach menopause with different physiological reserves than those from more advantaged settings, leading to greater losses in muscle strength in postmenopausal years. More work comparing distinct populations is needed to better understand the underlying mechanisms.

[Functional results and complications of the use of the proximal femoral nail in the treatment of intertrochanteric hip fractures]. / Resultados funcionales y complicaciones del uso del clavo cefalomedular en el tratamiento de las fracturas de cadera.

INTRODUCTION: Cephalomedullary nails are used for the treatment of hip fractures; however, there are few studies that allow identifying data on the complications of the use of these devices and the results in terms of restoration of the functionality of the patient. METHODS: A cross-sectional study of patients with femur fracture was conducted during the period from January 2008 to December 2012. Data on demographic and clinical variables were collected. Telephone follow-up was performed up to six postoperative months. A descriptive analysis was done using absolute and relative frequency measurements. Quantitative variables are presented with averages and standard deviation or median and interquartile range, according to the normality of the data. RESULTS: 82.9% of the patients managed to walk with or without help within six months after surgery; anemia (16.2%), urinary tract infection (9.7%), pneumonia (9.5%) and myocardial infarction (0.7%) were the main complications. Of the patients included, 57.1% had an ASA level 3; a mortality rate of 16% was identified. DISCUSSION: Cephalomedullary nails show positive results regarding recovery of functional mobility and a low prevalence of complications, with similar mortality to that reported in the literature at 6 months of follow up.

INTRODUCCIÓN: El clavo cefalomedular es utilizado para el tratamiento de la fractura de cadera; sin embargo, existen pocos estudios que permitan identificar datos sobre las complicaciones del uso de estos dispositivos y los resultados en términos de restauración de la funcionalidad del paciente. MÉTODOS: Se realizó un estudio de corte transversal en pacientes con fractura de fémur durante el período de Enero de 2008 a Diciembre de 2012. Se recopiló información de variables demográficas y clínicas. Se llevó a cabo un seguimiento telefónico hasta seis meses postoperatorios. Se efectuó un análisis descriptivo utilizando medidas de frecuencia absolutas y relativas. Las variables cuantitativas se presentan con promedios y desviación estándar o mediana y rango intercuartil, según la normalidad de los datos. RESULTADOS: De los pacientes, 82.9% logró caminar con o sin ayuda dentro de los seis meses posteriores a la cirugía. El tiempo de hospitalización fue de cuatro días en promedio; las principales complicaciones fueron anemia (16.2%), infección urinaria (9.7%), neumonía (9.5%) e infarto del miocardio (0.7%). De quienes fueron incluidos, 57.1% tenían un nivel ASA 3; se identificó una mortalidad de 16% en ellos. DISCUSIÓN: El clavo cefalomedular muestra resultados positivos en cuanto a recuperación funcional de la movilidad y una baja prevalencia de complicaciones, con una mortalidad similar a la reportada en la literatura dentro de los primeros 6 meses de nuestro seguimiento.

Application of Saccharomyces cerevisiae var. boulardii in food processing: a review.

Probiotics are increasingly being added to food in order to develop products with health-promoting properties. Particularly, Saccharomyces cereviceae var. boulardii yeast is recently being investigated like a starting-culture for development of functional and probiotic foods. Although the literature is abundant on the beneficial effects of S. boulardii on health, slight information is available on the effects of supplementing this probiotic to food systems. The aim of this paper is to examine the applications of S. boulardii to different food matrices and its implication in food processing (stability, sensorial properties and other technological implications) and the concomitant effects on nutrition and health.

Resultados funcionales y complicaciones del uso del clavo cefalomedular en el tratamiento de las fracturas de cadera / Functional results and complications of the use of the proximal femoral nail in the treatment of intertrochanteric hip fractures

Resumen: Introducción: El clavo cefalomedular es utilizado para el tratamiento de la fractura de cadera; sin embargo, existen pocos estudios que permitan identificar datos sobre las complicaciones del uso de estos dispositivos y los resultados en términos de restauración de la funcionalidad del paciente. Métodos: Se realizó un estudio de corte transversal en pacientes con fractura de fémur durante el período de Enero de 2008 a Diciembre de 2012. Se recopiló información de variables demográficas y clínicas. Se llevó a cabo un seguimiento telefónico hasta seis meses postoperatorios. Se efectuó un análisis descriptivo utilizando medidas de frecuencia absolutas y relativas. Las variables cuantitativas se presentan con promedios y desviación estándar o mediana y rango intercuartil, según la normalidad de los datos. Resultados: De los pacientes, 82.9% logró caminar con o sin ayuda dentro de los seis meses posteriores a la cirugía. El tiempo de hospitalización fue de cuatro días en promedio; las principales complicaciones fueron anemia (16.2%), infección urinaria (9.7%), neumonía (9.5%) e infarto del miocardio (0.7%). De quienes fueron incluidos, 57.1% tenían un nivel ASA ≥ 3; se identificó una mortalidad de 16% en ellos. Discusión: El clavo cefalomedular muestra resultados positivos en cuanto a recuperación funcional de la movilidad y una baja prevalencia de complicaciones, con una mortalidad similar a la reportada en la literatura dentro de los primeros 6 meses de nuestro seguimiento.

Abstract: Introduction: Cephalomedullary nails are used for the treatment of hip fractures; however, there are few studies that allow identifying data on the complications of the use of these devices and the results in terms of restoration of the functionality of the patient. Methods: A cross-sectional study of patients with femur fracture was conducted during the period from January 2008 to December 2012. Data on demographic and clinical variables were collected. Telephone follow-up was performed up to six postoperative months. A descriptive analysis was done using absolute and relative frequency measurements. Quantitative variables are presented with averages and standard deviation or median and interquartile range, according to the normality of the data. Results: 82.9% of the patients managed to walk with or without help within six months after surgery; anemia (16.2%), urinary tract infection (9.7%), pneumonia (9.5%) and myocardial infarction (0.7%) were the main complications. Of the patients included, 57.1% had an ASA level ≥ 3; a mortality rate of 16% was identified. Discussion: Cephalomedullary nails show positive results regarding recovery of functional mobility and a low prevalence of complications, with similar mortality to that reported in the literature at 6 months of follow up.

[A phenotypic description of 26 patients with Ritscher-Schinzel syndrome (cranio-cerebello-cardiac dysplasia or 3C syndrome)]. / Descripcion fenotipica de 26 pacientes con sindrome de Ritscher-Schinzel (displasia craneo-cerebelo-cardiaca o sindrome 3C).

INTRODUCTION: Ritscher-Schinzel syndrome (also known as cranio-cerebello-cardiac dysplasia or 3C syndrome) is a rare genetic syndrome that is mainly characterised by the association of cardiac and craniofacial anomalies together with others affecting the posterior fossa. PATIENTS AND METHODS: We report on 26 patients with Ritscher-Schinzel syndrome at a hospital in Medellin, in the Department of Antioquia, Colombia. RESULTS: Males account for 69% of this cohort. The mean age of the cohort was 30 months, and 42% were under the age of one year at the time of diagnosis. All of them presented ocular disorders, and megalocornea was the most frequent ocular manifestation (69%), whereas low-set ears (80.7%) and septal heart defects (68.7%) were the most common facial and cardiac malformations, respectively. The most frequent malformations of the posterior fossa were megacisterna magna (31.8%) and Dandy-Walker malformation (27%). 84% of the cases had delayed neurodevelopment or intellectual disability. Skeletal manifestations were frequent: the group consisting of camptodactyly, single palmar crease, overlapping fingers, vertical talus and nail hypoplasia were found in hands and feet in 96% of the cases. CONCLUSIONS: Ritscher-Schinzel syndrome is a heterogeneous syndrome from the genetic and clinical point of view. These results suggest that the skeletal and ocular abnormalities that were observed can facilitate the phenotypic diagnosis. However, it is necessary to conduct further studies that allow us to gain a deeper knowledge of its prevalence and help identify other genes involved in this syndrome.

TITLE: Descripcion fenotipica de 26 pacientes con sindrome de Ritscher-Schinzel (displasia craneo-cerebelo-cardiaca o sindrome 3C).Introduccion. El sindrome de Ritscher-Schinzel (tambien conocido como displasia craneo-cerebelo-cardiaca o sindrome 3C) es un sindrome genetico raro que se caracteriza principalmente por la asociacion de anomalias cardiacas, craneofaciales y de la fosa posterior. Pacientes y metodos. Se describen 26 pacientes con sindrome de Ritscher-Schinzel pertenecientes a un hospital de Medellin en el departamento de Antioquia, Colombia. Resultados. La presente cohorte esta compuesta en un 69% por hombres. La mediana de edad de la cohorte fue de 30 meses y el 42% tenia menos de 1 año de edad en el momento del diagnostico. Todos presentaban afectacion ocular, y la megalocornea fue la manifestacion ocular mas frecuente (69%), mientras que las orejas de implantacion baja (80,7%) y los defectos cardiacos septales (68,7%) fueron las malformaciones faciales y cardiacas mas comunes, respectivamente. Las malformaciones de la fosa posterior mas frecuentes fueron megacisterna magna (31,8%) y malformacion de Dandy-Walker (27%). El 84% tenia retraso del neurodesarrollo o discapacidad intelectual. Las manifestaciones esqueleticas fueron frecuentes: el conjunto de camptodactilia, pliegue palmar unico, dedos sobrelapados, astragalo vertical e hipoplasia ungueal en las manos y los pies se hallo en el 96% de los casos. Conclusiones. El sindrome de Ritscher-Schinzel es heterogeneo desde el punto de vista genetico y clinico. Estos resultados sugieren que las anormalidades esqueleticas y oculares observadas pueden facilitar el diagnostico fenotipico. No obstante, es necesario realizar estudios adicionales que permitan conocer mejor su prevalencia y facilitar la identificacion de otros genes implicados en este sindrome.

Trombectomía mecánica: técnica de primera elección en el tratamiento ictus isquémico agudo: análisis de beneficios y resultados / Mechanical thrombectomy: first choice therapeutical approach in acute ischemic stroke; analysis of benefits and results

Esta revisión tiene como objetivo el uso de la Trombectomía Mecánica como técnica de primera elección en el tratamiento de Ictus Isquémico Agudo. Materiales y Método: La revisión incluye 9 pacientes con diagnóstico de Ictus Isquémico a los que se le realizo Trombectomía Mecánica, se utilizó el dispositivo de recanalización tipo Solitaire asociado a rtPA intraarterial 10 por ciento de la dosis intravenosa, los criterios diagnósticos: edad, período de ventana, imagen de TC al ingreso. Resultados: 8 pacientes (89 por ciento) correspondieron a oclusión de la circulación Anterior, 1 (11 por ciento) a la oclusión de circulación posterior, la efectividad terapéutica se la evalúo según la Escala de Rankin Modificada, 5 (55 por ciento) obtuvieron recuperación completa de sus funciones, 3 (33 por ciento) presentaron secuelas leves, y 1(11 por ciento) no obtuvo mejoría alguna. Discusión: Los resultados de nuestra revisión son alentadores sobre todo al reducir la secuela discapacitante, deja una ventana abierta para posteriores revisiones sobre estetratamiento.

This review aims to use Trombrectomy Mechanics and technique as choice in the treatment of Acute Ischemic Stroke. Materials and Methods: Age, period: The review included 9 patients with a diagnosis of Ischemic Stroke those who underwent Trombrectomy Mechanics, recanalization device type associated with intra-arterial rtPA Solitaire 10 percent of the intravenous dose, the diagnostic criteria was used with CT. Results: 8 patients (89 percent) were occluded circulation Earlier, 1 (11 percent) to occlusion of posterior circulation, the therapeutic succes was evaluated according to the modified Rankin scale, 5 (55 percent) had complete recovery its functions, 3 (33 percent) had mild sequelae, and 1 (11 percent) not obtained any improvement. Discussion: The results of our review are encouraging especially by reducing the disabling sequel, leave a window open for further review on this treatment.

Adulteration of Argentinean milk fats with animal fats: Detection by fatty acids analysis and multivariate regression techniques.

The aims of the present study were to test the accuracy of the fatty acid ratios established by the Argentinean Legislation to detect adulterations of milk fat with animal fats and to propose a regression model suitable to evaluate these adulterations. For this purpose, 70 milk fat, 10 tallow and 7 lard fat samples were collected and analyzed by gas chromatography. Data was utilized to simulate arithmetically adulterated milk fat samples at 0%, 2%, 5%, 10% and 15%, for both animal fats. The fatty acids ratios failed to distinguish adulterated milk fats containing less than 15% of tallow or lard. For each adulterant, Multiple Linear Regression (MLR) was applied, and a model was chosen and validated. For that, calibration and validation matrices were constructed employing genuine and adulterated milk fat samples. The models were able to detect adulterations of milk fat at levels greater than 10% for tallow and 5% for lard.

Tratamiento con vitamina E en pacientes con esteatohepatitis no alcohólica / Vitamin E Treatment for Patients with Nonalcoholic Steatohepatitis

La esteatohepatitis no alcohólica se caracteriza histológicamente por el balonamiento de los hepatocitos, la inflamación lobulillar y la esteatosis. Al sospechar este diagnóstico es importante la exclusión de otras causas de lesión hepática principalmente el consumo excesivo de alcohol; sin embargo, la biopsia es el único método disponible hasta el momento para confirmar el diagnóstico. Para el tratamiento de esta enfermedad, la vitamina E debe ser considerada una terapia de primera línea debido a que en diversos ensayos clínicos se ha observado que aunque sin un impacto significativo en la fibrosis, a dosis de 800 UI día mejora la histología en adultos no diabéticos con NASH confirmado por biopsia. A pesar de los beneficios demostrados con el uso de este medicamento se debe tener en cuenta que no reemplaza los cambios en la dieta y el ejercicio, y que por el contrario, representa un complemento a estas medidas.

Nonalcoholic Steatohepatitis (NASH) is characterized histologically by the ballooning of hepatocytes, lobular inflammation and steatosis. If this diagnosis is suspected, it is important to exclude other causes of liver damage, especially excessive consumption of alcohol. Nevertheless, to date, a biopsy is the only method available to confirm the diagnosis. Vitamin E should be considered a first-line therapy for treatment of this disease because several clinical studies have shown that a dose of 800 UI/day improves the histology of non-diabetic adults suffering from NASH even when there is no significant impact on fibrosis. These results were confirmed by biopsies. Despite the proven benefits of the use of this drug, it is important to be aware that its use cannot replace changes in diet and exercise but rather should be seen as a complement to these measures.

First Report of Foliar Infection of Cabbage by Phytophthora drechsleri in Argentina.

Cabbage (Brassica oleracea var. capitata L.) is a popular crop grown along the northeast horticultural belt of Buenos Aires Province, Argentina. In the summer of 2010, fields in this region remained flooded for long periods due to frequent and intense precipitation (560 mm from January to March). Commercial cabbage crops in the cities of Luján and General Rodríguez developed patches of diseased plants that were stunted and wilted. Affected plants had necrotic areas in the crowns and roots. Symptoms expanded to the upper stems, leaving vascular tissues exposed. During April 2010, samples from 2 fields were brought to the laboratory where the stems were washed thoroughly and disinfected with a 1% bleach solution for 2 minutes. Small pieces (5 mm in diameter) were removed from the lesion edge, plated on V8 agar (V8A) plates, and incubated at 24°C in the dark for 5 days. Four isolates were transferred to V8A using hyphal tips. Morphological studies were performed on the V8A cultures as well as plates flooded with tap water. Sporangia were obpyriform, nonpapillate, persistent, and variable in size, averaging 44 × 28 µm. Each isolate belonged to the A1 mating type when paired with P. capsici tester isolates, CBS 370.72 and CBS 111.334 (Fungal Biodiversity Centre, CBS, Utrecht, the Netherlands). The isolates produced amphigynous antheridia, and chlamydospores were present but scarce. Maximum temperatures for growth (37°C) were also performed. Edited sequences of the internal transcribed spacer (ITS) region of the rDNA (GenBank Accession Nos. JQ653300, JQ653301, JQ653302, and JQ653303) were compared with Phytophthora sequences available in GenBank using the BLASTN search utility (1) and aligned to the data set of Cooke et al. (2). Sequences of the four isolates (strains 2: R-cai-cuello-col-3, 3: R-cai-cuello-col-18, 4: R-AN-col-1A and 5: R-AN-col-1B) matched 100% with GenBank sequences of P. drechsleri (100% coverage, 100% identity and no gaps). Based on these results, the four Argentinian cabbage isolates were identified as P. drechsleri (3). Pathogenicity tests were completed using three detached heads of mature cabbage plants (B. oleracea var. capitata) for each isolate. A 5-mm colonized mycelial plug of the appropriate isolate was placed on the main vein of the outermost leaves. For the control treatments, three heads were inoculated with non-colonized V8A plugs. The inoculated and control heads of cabbage were incubated in plastic boxes wrapped in black nylon bags at 24°C for 4 days. Broccoli (B. oleracea var. italica) and cauliflower (B. oleracea var. botrytis) were also tested following the same procedure. All heads of cabbage, broccoli, and cauliflower developed necrotic lesions 2 to 4 cm in diameter and a dark grey color. Control heads of each plant remained green. P. dreschleri was consistently reisolated as described above from the inoculated heads, but not from the control heads. To our knowledge, this is the first report of cabbage as a host for P. dreschleri in Argentina. Frezzi (4) reported this species as a pathogen of Chrysanthemum cinerariefolium, Celosia plumosa, Schinus molle, and Solanum lycopersicum in Argentina in 1950. References: (1) S. S. Altschul et al. Nucleic Acids Res. 25:3389, 1997. (2) D. E. L. Cooke et al. Fungal Gen. Biol. 30:17, 2000. (3) D. C. Erwin and O. K. Ribeiro. Phytophthora Diseases Worldwide. The American Phytopathological Society Press, St. Paul, MN, 1996. (4) M. J. Frezzi. Rev. Invest. Agric. Buenos Aires 4:49, 1950.

Somatic mosaicism caused by monoallelic reversion of a mutation in T cells of a patient with ADA-SCID and the effects of enzyme replacement therapy on the revertant phenotype.

Patients with adenosine deaminase (ADA) deficiency exhibit spontaneous and partial clinical remission associated with somatic reversion of inherited mutations. We report a child with severe combined immunodeficiency (T-B- SCID) due to ADA deficiency diagnosed at the age of 1 month, whose lymphocyte counts including CD4+ and CD8+ T and NK cells began to improve after several months with normalization of ADA activity in Peripheral blood lymphocytes (PBL), as a result of somatic mosaicism caused by monoallelic reversion of the causative mutation in the ADA gene. He was not eligible for haematopoietic stem cell transplantation (HSCT) or gene therapy (GT); therefore he was placed on enzyme replacement therapy (ERT) with bovine PEG-ADA. The follow-up of metabolic and immunologic responses to ERT included gradual improvement in ADA activity in erythrocytes and transient expansion of most lymphocyte subsets, followed by gradual stabilization of CD4+ and CD8+ T (with naïve phenotype) and NK cells, and sustained expansion of TCRγδ+ T cells. This was accompanied by the disappearance of the revertant T cells as shown by DNA sequencing from PBL. Although the patient's clinical condition improved marginally, he later developed a germinal cell tumour and eventually died at the age of 67 months from sepsis. This case adds to our current knowledge of spontaneous reversion of mutations in ADA deficiency and shows that the effects of the ERT may vary among these patients, suggesting that it could depend on the cell and type in which the somatic mosaicism is established upon reversion.