Fermentative Liberation of Ellagic Acid from Walnut Press Cake Ellagitannins.

Oil is extracted from walnut leaves behind large quantities of defatted press cake that is still rich in valuable nutrients. Aspergillus oryzae and Rhizopus oligosporus, two molds traditionally used in Asia, have the necessary enzymes to use the nutrients in the walnut press cake. Walnuts and the press cake contain ellagitannins, known as precursors for ellagic acid and urolithins. In this study, experiments to optimize the solid-state fermentation of walnut press cake were performed in order to liberate ellagic acid from ellagitannins. Extracts of fermented products were then analyzed with an HPLC-DAD to measure the liberation of ellagic acid from ellagitannins. Good growth of R. oligosporus and A. oryzae mycelia on the walnut press cake was observed. A single mold culture was subjected to a hydration of 0.8 mL/g, an addition of 37.5 mmol/kg acetic acid (AA) and 1% NaCl, and an incubation temperature of 25 °C; these were observed to be good conditions for solid-state fermentation for walnut press cake. The highest ellagic acid concentration was obtained at 48 h. At 72 h, degradation dominated the liberation of ellagic acid.

ATP-binding cassette protein ABCA7 deficiency impairs sphingomyelin synthesis, cognitive discrimination, and synaptic plasticity in the entorhinal cortex.

Sphingomyelin (SM) is an abundant plasma membrane and plasma lipoprotein sphingolipid. We previously reported that ATP-binding cassette family A protein 1 (ABCA1) deficiency in humans and mice decreases plasma SM levels. However, overexpression, induction, downregulation, inhibition, and knockdown of ABCA1 in human hepatoma Huh7 cells did not decrease SM efflux. Using unbiased siRNA screening, here, we identified that ABCA7 plays a role in the biosynthesis and efflux of SM without affecting cellular uptake and metabolism. Since loss of function mutations in the ABCA7 gene exhibit strong associations with late-onset Alzheimer's disease across racial groups, we also studied the effects of ABCA7 deficiency in the mouse brain. Brains of ABCA7-deficient (KO) mice, compared with WT, had significantly lower levels of several SM species with long chain fatty acids. In addition, we observed that older KO mice exhibited behavioral deficits in cognitive discrimination in the active place avoidance task. Next, we performed synaptic transmission studies in brain slices obtained from older mice. We found anomalies in synaptic plasticity at the intracortical synapse in layer II/III of the lateral entorhinal cortex but not in the hippocampal CA3-CA1 synapses in KO mice. These synaptic abnormalities in KO brain slices were rescued with extracellular SM supplementation but not by supplementation with phosphatidylcholine. Taken together, these studies identify a role of ABCA7 in brain SM metabolism and the importance of SM in synaptic plasticity and cognition, as well as provide a possible explanation for the association between ABCA7 and late-onset Alzheimer's disease.

Enteric Viral Infections among Domesticated South American Camelids: First Detection of Mammalian Orthoreovirus in Camelids.

Enteric infections are a major cause of neonatal death in South American camelids (SACs). The aim of this study was to determine the prevalence of enteric viral pathogens among alpacas and llamas in Canchis, Cuzco, located in the southern Peruvian highland. Fecal samples were obtained from 80 neonatal alpacas and llamas and tested for coronavirus (CoV), mammalian orthoreovirus (MRV), and rotavirus A (RVA) by RT-PCR. Of the 80 fecal samples analyzed, 76 (95%) were positive for at least one of the viruses tested. Overall, the frequencies of positive samples were 94.1% and 100% among alpacas and llamas, respectively. Of the positive samples, 33 (43.4%) were monoinfected, while 43 (56.6%) had coinfections with two (83.7%) or three (16.3%) viruses. CoV was the most commonly detected virus (87.5%) followed by MRV (50%). RVA was detected only in coinfections. To our knowledge, this is the first description of MRV circulation in SACs or camelids anywhere. These data show that multiple viruses circulate widely among young alpaca and llama crias within the studied areas. These infections can potentially reduce livestock productivity, which translates into serious economic losses for rural communities, directly impacting their livelihoods.

[Two new mutations in the gene that codes for acid alpha-glucosidase in an adolescent with late-onset Pompe disease]. / Dos nuevas mutaciones en el gen que codifica la alfa-glucosidasa ácida en un adolescente con enfermedad de Pompe de inicio tardío.

INTRODUCTION. Glycogen storage disease type II, or Pompe disease, is a lysosomal disease with an autosomal recessive pattern of inheritance. Late-onset Pompe disease is a progressive metabolic myopathy caused by decreased activity of the enzyme acid alpha-glucosidase (GAA), which gives rise to reduced degradation and later accumulation of glycogen in the lysosomes and cell cytoplasm. CASE REPORT. A 16-year-old Venezuelan male, diagnosed with late-onset glycogen storage disease type II, or Pompe disease, based on the patient's clinical picture and the biochemical findings. The patient presented unmistakable signs of muscular atrophy in the upper and lower limbs, as well as positive Gowers' sign. Levels of creatinkinase in serum were high. His functional respiratory capacity was diminished. The quantification of the enzymatic activity of acid alpha-glucosidase on filter paper did not show any significant decrease in activity. A molecular genetic analysis revealed the existence of two homozygotic mutations in the gene GAA, c.547-67C>G and c.547-39T>G, both on exon 2 of chromosome 17. According to the human genome database and the review that was undertaken, the changes detected in this patient represent new mutations in the acid alpha-glucosidase gene, GAA. This claim is in agreement with the clinical features and biochemical changes found in the patient. CONCLUSION. A molecular genetic study is mandatory in patients suspected of having this disease.

TITLE: Dos nuevas mutaciones en el gen que codifica la alfa-glucosidasa acida en un adolescente con enfermedad de Pompe de inicio tardio.Introduccion. La glucogenosis tipo II o enfermedad de Pompe es una enfermedad lisosomal con un patron de herencia autosomico recesivo. La enfermedad de Pompe de inicio tardio es una miopatia metabolica progresiva causada por una disminucion de la actividad de la enzima alfa-glucosidasa acida (GAA), lo que origina una disminucion de la degradacion y posterior acumulo del glucogeno dentro de los lisosomas y el citoplasma celular. Caso clinico. Adolescente venezolano, de 16 años, diagnosticado de glucogenosis tipo II o enfermedad de Pompe, de comienzo tardio, basado en la clinica del paciente y los hallazgos bioquimicos. La atrofia muscular de los miembros superiores e inferiores era evidente y presentaba maniobra de Gowers positiva. Los niveles sericos de creatincinasa eran elevados. Su capacidad funcional respiratoria estaba disminuida. La cuantificacion de la actividad enzimatica de la GAA en papel de filtro no mostraba una disminucion significativa de la actividad. El analisis genetico molecular revelo la existencia de dos mutaciones en condicion homocigotica en el gen GAA, c.547-67C>G y c.547-39T>G, ambas en el exon 2 del cromosoma 17. De acuerdo con la base de datos del genoma humano y la revision emprendida, los cambios detectados en este paciente representan nuevas mutaciones en el gen GAA. Esta afirmacion esta en concordancia con la clinica y cambios bioquimicos encontrados en el paciente. Conclusion. Es obligatorio el estudio genetico molecular en un paciente en el que se sospecha la enfermedad.

Anomalía de Ebstein “tipo B”: caso clínico / Ebstein’s anomaly “type B”: case report

La anomalía de Ebstein es una rara enfermedad cardíacacongénita, con incidencia 1/200.000 nacidos vivos, presenta un espectro morfológico amplio caracterizado por diferentes grados de desplazamiento y adherencia de la valvas septal y posterior de la válvula tricúspide hacia el ventrículo derecho, comunicación interauricular o foramen oval permeable, asociada a degeneración del miocardio subyacente a las valvas posterior y septal incriminadas. El reservorio venoso auricular aumenta su volumen al desplazarse el orificio tricuspídeo efectivo dentro de la cámara de entrada del ventrículo derecho, afectándose su función sistolo-diastólica y aparece cianosis secundaria a cortocircuito a nivel auricular. En 20% - 30% se asocia a síndrome de Wolff-Parkinson-White (WPW). Presentamos el caso clínico de un adolescente de 16 años con anomalía de Ebstein y taquicardia supraventricular, quién presentó evento cerebrovascular isquémico a los 7 años, la evaluación clínica y ecocardiográfica resultó en anomalía de Ebstein tipo B, se realizó ablación por radiofrecuencia eficaz de vía accesoria posterolateral derecha guiada por sistema de navegación, sin embargo, 7 meses después reingresa por disnea progresiva y acentuación de la cianosis, se realiza resonancia magnética y cateterismo cardíaco; para calcular volumen ventricular funcional del ventrículo derecho y medir presiones pulmonares, realizándole corrección bi-ventricular con técnica de Carpentier y reemplazo valvular tricuspídeo (Prótesis Medtronic Advantage N°23), con resultado satisfactorio y evolución clínica a clase funcional I-II NYHA.

Ebstein’s anomaly is a rare congenital heart disease, with incidence 1/200.000 live births, has a broad morphologics pectrum characterized by different degrees of displacement and adherence of the septal and posterior leaflets of the tricuspid valve into the right ventricle atrial septal defect or patent foramen ovale associated with myocardial degeneratio nunderlying the posterior and septal leaflets incriminated. The atrial venous reservoir increases in volume by moving the effective tricuspid orifice in the right ventricle inlet chamber, affecting systolic-diastolic function and appears cyanosis secondary to shunt at the atrial level. In 20% - 30% is associated with Wolff-Parkinson-White (WPW). We report the case of a 16-year Ebstein’s anomaly and supraventricular tachycardia, who presented ischemic stroke event at age 7-year, the clinical and echocardiographic assessment of Ebstein’s anomaly resulted in type B, was performed radiofrequency ablation of accessory pathway effective right postero-lateral guided navigation system, but seven months later readmitted because of progressive dyspnoea and cyanosis accentuation is performed cardiac MRI and catheterization to calculate volume right ventricle and measure functional pulmonary pressures, performing bi-ventricular correction technique Carpentier tricuspid valve replacement (Medtronic Advantage prosthesis No. 23), with satisfactory results and clinical functional class NYHA I-II.

Factores de riesgo cardiovascular en estudiantes universitarios chilenos / Cardiovascular risk factors in Chilean university students

Objetivo. Evaluar la prevalencia de factores de riesgo cardiovascular en universitarios asintomáticos de ambos sexos, de entre 18 y 25 años de edad. Material y métodos. La muestra quedó integrada por 1,301 estudiantes. En una submuestra de 293 sujetos se midieron lípidos séricos, con un analizador químico Hitachi 717. La obesidad se estimó considerando el índice de masa corporal (IMC); el antecedente familiar de infarto, así como el consumo de cigarrillos y el nivel de actividad física se determinaron mediante un cuestionario de autoevaluación. Se contruyeron tablas de contingencia para estudiar asociaciones entre factores de riesgo lipídicos y no lipídicos, usando la prueba X² de Pearson. Se realizó un análisis de regresión múltiples para determinar la relación de cada una de las variables lipídicas (colesterol total, colesterol-lipoproteína de baja densidad, colesterol-lipoproteína de alta densidad y triglicéridos), así como de las no lipídicas (edad, peso, estatura, IMC, sexo, presión arterial alta, conducta sedentaria y antecedente familiar de infarto precroz). Resultados. Se encontraron niveles de riesgo lipídico en 29.2 por ciento de los casos para colesterol total, en 16.2 por ciento para lipoproteína de baja densidad y en 5 por ciento para lipoproteína de alta densidad. Entre los factores de riesgo no lipídicos más prevalentes, estaban el consumo de cigarrillos, con 46.1 por ciento, y el sedentarismo, que alcanzó 60.8 por ciento. La obesidad, la hipertensión arterial y el antecedente familiar alcanzaron 1.9, 4.6 y 11 por ciento, respectivamente. Se observó una asociación entre el perfil lipídico de riesgo, la obesidad, la conducta fumadora y el antecedente familiar. Conclusiones. Los resultados mostraron una alta prevalencia de sedentarismo y conducta fumadora, asociada a un perfil lipídico de riesgo. Se deduce la necesidad imperiosa de diseñar programas de intervención con el fin de modificar el estilo de vida y prevenir la posible presencia de enfermedades cardiovasculares en la vida adulta de los jóvenes