Análisis de los inhibidores de las alfa-amilasa y la tripsina contenidos en el trigo y otros cereales: potenciales promotores de la inflamación intestinal / Analysis of Amylase/Trypsin's Inhibitors contained in wheat and other cereals: potential promoters of intestinal inflammation

Las plantas han desarrollado un sistema de resistencia a insectos y plagas mediante la síntesis de compuestos como los inhibidores de las alfa-amilasas y/o las proteasas digestivas, proteínas que actúan también contra las enzimas digestivas de mamíferos. Diversos estudios han demostrado su implicación en la activación del sistema inmune y posiblemente, en la sintomatología de patologías como la Sensibilidad al Gluten no Celíaca, siendo esta reacción proporcional al contenido en el cereal. El objetivo de este trabajo fue realizar una revisión de las diferentes estrategias para la extracción, purificación, detección y cuantificación de estas proteínas en el trigo y en otros cereales de la dieta actual. Esta revisión incluyó los métodos de análisis con espectrometría de masas del periodo 2000 - 2017, identificándose 114 artículos relevantes de los que se seleccionaron 26. Actualmente no existe un método estandarizado de control que permita determinar estas proteínas de forma clara, concisa y fiable

Plants have developed a system of resistance to insects and pests through the synthesis of certain compounds such as alpha-amylase inhibitors and/or digestive proteases, proteins that can also act against digestive enzymes of mammals. Studies have shown their involvement in the activation of the immune system and possibly in the symptomatology of non-coeliac Gluten Sensitivity, being the reaction proportional to cereal content. The objective of this study was to review the different strategies used for extraction, purification, detection and quantification of these inhibitors in wheat and other cereals of the current diet. A review of the literature published between 2000-2017 on methods of analysis by mass spectrometry was carried out. 114 relevant articles were identified from which 26 were selected for review. At present, there is no standardized control method for the clear, concise and reliable determination of these proteins

Coping strategies and postpartum depressive symptoms: A structural equation modelling approach.

BACKGROUND: Variables such as the mother's personality, social support, coping strategies and stressful events have been described as risk factors for postpartum depression. Structural Equation Modelling (SEM) analysis was used to examine whether neuroticism, perceived social support, perceived life events, and coping strategies are associated with postpartum depressive symptoms at the 8th and 32nd weeks. METHODS: A total of 1626 pregnant women participated in a longitudinal study. Different evaluations were performed 8 and 32weeks after delivery. Several measures were used: the Edinburgh Postnatal Depression Scale (EPDS), the Diagnostic Interview for Genetic Studies (DIGS), the Eysenck Personality Questionnaire (EPQ-RS), the St. Paul Ramsey life events scale and the Duke-UNC Functional Social Support Questionnaire. The brief COPE scale was used to measure coping strategies. SEM analysis was conducted for all women and in those women with a clinical diagnosis of postpartum depression. RESULTS: Passive coping strategies were associated with postpartum depressive symptoms at both visits (8th and 32nd weeks). Neuroticism was associated with more passive coping strategies and less active coping strategies. Neuroticism and life stress were positively correlated, and social support was negatively correlated with life stress and neuroticism. CONCLUSIONS: Early identification of potential risk for symptomatology of depression postpartum should include assessment of neuroticism, life events, social support and coping strategies.

Cross-sectional study of HPV-16 infection in a population-based subsample of Hispanic adults.

OBJECTIVE: This study aimed to estimate the prevalence and correlates of seropositivity to human papillomavirus (HPV)-16 in a subsample of adults who participated in the parent study Epidemiology of Hepatitis C in the adult population of Puerto Rico (PR). SETTING: The parent study was a population-based household survey aimed to estimate the seroprevalence of hepatitis C and other viral infections (hepatitis A, hepatitis B, HIV, and herpes simplex type 2) in PR (n=1654) between 2005 and 2008. PARTICIPANTS: A subsample of the last 450 consecutive adults aged 21-64 years, recruited between February 2007 and January 2008, who participated in the parent study and agreed to participate in HPV testing. PRIMARY AND SECONDARY OUTCOME MEASURES: The samples were tested by ELISA for HPV-16 viral-like particle-specific immunoglobulin G. Information on sociodemographic, health, and lifestyle characteristics was collected. Logistic regression modelling was used to estimate the prevalence odds ratio (POR) to assess factors associated to HPV-16 seropositivity. RESULTS: Prevalence of seropositivity to HPV-16 was 11.3%. Seroprevalence was higher in women (15.8%) than men (5.6%; p=0.001). After adjusting for age and sex, ever smokers (POR 2.06, 95% CI 1.08 to 3.92) and participants with at least five lifetime sexual partners (POR 2.91, 95% CI 1.24 to 6.81) were more likely to be HPV-16 seropositive. CONCLUSIONS: HPV-16 seropositivity is similar to that reported in the USA (10.4%) for NHANES 2003-2004 participants, although different assays were used in these studies. While future studies should evaluate HPV seroprevalence using a larger population-based sample, our results highlight the need to further understand the burden of HPV infection and HPV-related malignancies in PR, population with a low vaccine uptake.

Hallazgo casual de vena cava superior izquierda persistente / No disponible

No disponible

Síndrome de dificultad respiratoria del recién nacido. Descripción de unacomplicación grave intraoperatoria no diagnosticada previamente / No disponible

No disponible

[Autosomal recessive diseases with mental retardation]. / Enfermedades autosómicas recesivas con retraso mental.

INTRODUCTION: Autosomal recessive diseases with mental retardation are disorders that affect autosomes, and their genetic expression occurs in individuals who are homozygotic for a mutation, while heterozygotic subjects are unaffected carriers. If both parents are carriers, the theoretical possibility of their children also being carriers is 50%, the risk of the children being affected by the disease is 25%, and there is a 25% chance of their being healthy. They are an important source of mental deficiencies and inborn errors of metabolism (IEM) are some of their characteristic syndromes. DEVELOPMENT: The genetic disorders known as IEM can be classified according to the metabolism they affect, that is, purines, pyrimidines, amino acids, and so on. One of the lysosomal disorders is Tay-Sachs disease, which is rare among the general population but is very frequent in populations with a high rate of consanguinity, such as the Ashkenazi Jews. One of the most notable disorders affecting the metabolism of amino acids is the case of phenylketonuria due to mutations in the phenylalanine hydroxylase gene (PAH). It accounts for 0.5-1% of mental diseases and appears with a frequency rate of between 1/11,500 and 1/14,000 in newborn infants. Its early diagnosis through neonatal screening programmes makes it possible to start administering a phenylalanine-free diet and thus prevent mental retardation. CONCLUSIONS: Knowledge of this kind of autosomal diseases with neurological involvement, together with their correct and early diagnosis, makes it possible to establish suitable treatment regimens in some cases and to carry out genetic counselling in all of them.

[Experimental models used in research into genetic disorders that involve intellectual disability]. / Modelos experimentales utilizados en la investigación de trastornos genéticos que cursan con discapacidad intelectual.

INTRODUCTION: A basic principle of molecular and clinical medicine states that the function of the organs and the cells they are made up of is determined by the overall set of specific proteins. Therefore, the function of each organ depends on the molecules present in each cell, and hence it comes as no surprise to find that when tissue function is altered, different changes have taken place in the proteins. In the nervous system there are numerous examples of changes in proteins that correlate with functional alterations, either during normal or pathological development. DEVELOPMENT: In order to understand these relations, and to establish models in which to study the aetiopathogenesis of the disease, it is necessary to direct steady synthesis or to suppress synthesis in the brain of the protein that is potentially involved in the development of the disease. In consequence, it is possible to determine whether the presence or the absence of the protein is the direct or indirect cause of the effects; this is one of the main goals that must be achieved in order to enable researchers to define potential therapeutic targets in hereditary diseases. In order to manipulate the specific protein causing a pathology, we use experimental animal models as essential research tools, since they enable us to determine which mechanisms are altered and how the function of a particular protein affects the mechanisms being studied. CONCLUSIONS: Suppressing a gene or its over-expression in models using genetically modified mice will provide us with a means of modifying the genome and, eventually, the protein in the different tissues as well as in the nervous system in an attempt to imitate the genetic pathology that involves mental retardation. By controlling or suppressing the expression of a protein in the brain it becomes possible to remodel the functional profile of the tissue and study the consequences of molecular genetic manipulation, together with the biochemical, cytological and physiological processes, under normal basal conditions and under specific stimuli or conditions such as stress.

Enfermedades autosómicas recesivas con retraso mental / Autosomal recessive diseases with mental retardation

Introducción. Las enfermedades autosómicas recesivascon retraso mental son alteraciones que afectan a los autosomas ysu expresión genética se da en individuos que son homocigotos parauna mutación, y los heterocigotos son portadores no afectos.Con ambos padres portadores, la posibilidad teórica de que sushijos sean portadores es del 50%, un riesgo de 25% de hijos afectadospor la enfermedad, y otro 25% sanos. Son origen importantede deficiencias mentales, y algunos síndromes característicos sonlos errores congénitos del metabolismo (ECM). Desarrollo. Los trastornosgenéticos de los ECM se pueden clasificar de acuerdo con elmetabolismo alterado: purinas, pirimidinas, aminoácidos, etc. Dentrode los trastornos lisosomales se encuentra la enfermedad de Tay-Sachs, que es rara en la población general, pero con una alta frecuenciaen poblaciones de gran consanguinidad, como los judíosasquenazí. Entre las alteraciones que afectan al metabolismo delos aminoácidos, es especialmente relevante el caso de la fenilcetonuriapor mutaciones en el gen de fenilalanina hidroxilasa (PAH).Supone un 0,5-1% de las enfermedades mentales, y aparece conuna frecuencia de l/11.500-1/14.000 en recién nacidos. Su diagnósticoprecoz con los programas de cribado neonatal permite instaurarla administración de una dieta alimenticia carente de fenilalaninay evitar el retraso mental. Conclusiones. El conocimiento ycorrecto y precoz diagnóstico de este tipo de enfermedades autosómicascon afectación neurológica permite establecer unas pautasadecuadas de tratamiento en unos casos y de asesoramiento genéticoen todos

Introduction. Autosomal recessive diseases with mental retardation are disorders that affect autosomes, and theirgenetic expression occurs in individuals who are homozygotic for a mutation, while heterozygotic subjects are unaffectedcarriers. If both parents are carriers, the theoretical possibility of their children also being carriers is 50%, the risk of thechildren being affected by the disease is 25%, and there is a 25% chance of their being healthy. They are an important sourceof mental deficiencies and inborn errors of metabolism (IEM) are some of their characteristic syndromes. Development. Thegenetic disorders known as IEM can be classified according to the metabolism they affect, that is, purines, pyrimidines, aminoacids, and so on. One of the lysosomal disorders is Tay-Sachs disease, which is rare among the general population but is veryfrequent in populations with a high rate of consanguinity, such as the Ashkenazi Jews. One of the most notable disordersaffecting the metabolism of amino acids is the case of phenylketonuria due to mutations in the phenylalanine hydroxylase gene(PAH). It accounts for 0.5-1% of mental diseases and appears with a frequency rate of between 1/11,500 and 1/14,000 innewborn infants. Its early diagnosis through neonatal screening programmes makes it possible to start administering aphenylalanine-free diet and thus prevent mental retardation. Conclusions. Knowledge of this kind of autosomal diseases withneurological involvement, together with their correct and early diagnosis, makes it possible to establish suitable treatmentregimens in some cases and to carry out genetic counselling in all of them

Modelos experimentales utilizados en la investigación de trastornos genéticos que cursan con discapacidad intelectual / Experimental models used in research into genetic disorders that involve intellectual disability

Introducción. Es un principio básico en medicina moleculary clínica que el conjunto de proteínas específicas determinan lafunción de la célula y los órganos que componen. Por tanto, la funciónde cada órgano depende de las moléculas presentes en cada célula;no es sorprendente que cuando se altera la función tisular hanocurrido distintos cambios en las proteínas. En el sistema nerviosohay numerosos ejemplos de cambios en proteínas que se correlacionancon alteraciones funcionales, ya sea durante el desarrollo normalo patológico. Desarrollo. Para entender estas relaciones, y paraestablecer modelos en los que estudiar la etiopatogenia de la enfermedad,es necesario dirigir la síntesis estable o anular la síntesis enel cerebro de la proteína candidata involucrada en el desarrollo dela enfermedad. Como resultado, se puede determinar si la presenciade la proteína o su ausencia causa los efectos directamente o indirectamente;es una de las metas principales para poder definir potencialesdianas terapéuticas de las enfermedades hereditarias. Paraafectar la proteína específica causante de una patología, usamosmodelos animales de experimentación como herramientas esencialesen la investigación; con ellos se pueden establecer qué mecanismosse alteran y cómo afecta la función de la proteína concreta a losmecanismos estudiados. Conclusiones. La anulación de un gen o susobreexpresión, a través de modelos de ratón modificados genéticamente,proporcionarán un medio para modificar el genoma y, alfinal, la proteína de los distintos tejidos y también del sistema nervioso,en un intento de imitar la patología genética que cursa conretraso mental. Controlando o anulando la expresión de una proteínaen el cerebro es posible remodelar el perfil funcional del tejido yestudiar las consecuencias de la manipulación genética molecular,y los procesos bioquímicos, citológicos y fisiológicos, bajo condicionesbasales y bajo estímulos o condiciones específicas como elestrés

Introduction. A basic principle of molecular and clinical medicine states that the function of the organs and the cellsthey are made up of is determined by the overall set of specific proteins. Therefore, the function of each organ depends on themolecules present in each cell, and hence it comes as no surprise to find that when tissue function is altered, different changeshave taken place in the proteins. In the nervous system there are numerous examples of changes in proteins that correlate withfunctional alterations, either during normal or pathological development. Development. In order to understand these relations,and to establish models in which to study the aetiopathogenesis of the disease, it is necessary to direct steady synthesis or tosuppress synthesis in the brain of the protein that is potentially involved in the development of the disease. In consequence, it ispossible to determine whether the presence or the absence of the protein is the direct or indirect cause of the effects; this is oneof the main goals that must be achieved in order to enable researchers to define potential therapeutic targets in hereditarydiseases. In order to manipulate the specific protein causing a pathology, we use experimental animal models as essentialresearch tools, since they enable us to determine which mechanisms are altered and how the function of a particular proteinaffects the mechanisms being studied. Conclusions. Suppressing a gene or its over-expression in models using geneticallymodified mice will provide us with a means of modifying the genome and, eventually, the protein in the different tissues as well asin the nervous system in an attempt to imitate the genetic pathology that involves mental retardation. By controlling or suppressingthe expression of a protein in the brain it becomes possible to remodel the functional profile of the tissue and study theconsequences of molecular genetic manipulation, together with the biochemical, cytological and physiological processes, undernormal basal conditions and under specific stimuli or conditions such as stress

[Large-scale genotyping in research into autism spectrum disorders and attention deficit hyperactivity disorder]. / Genotipado a gran escala en la investigación del trastorno del espectro autista y el trastorno por deficit de atención con hiperactividad.

INTRODUCTION AND DEVELOPMENT: Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are two neuropsychiatric disorders beginning in childhood that present a high degree of familial aggregation. ASD is characterised by social interaction and communication disorders, whereas patients with ADHD display persistent inattention and/or hyperactive-impulsive behaviour. With the exception of a few cases of autism in which cytogenetic anomalies or mutations have been reported in specific genes, the aetiology of these diseases remains unknown. This is a group of multifactorial diseases with several genes having a lesser effect and there is also an environmental component. Genetic linkage studies have pointed to about 20 chromosomal regions that could well contain genes that grant susceptibility to autism, to ADHD or to both disorders. The challenge to researchers lies in the clinical characterisation, recruitment of patients with ASD and ADHD, gene dosage quantification studies, comparative genomic methylation and hybridisation in order to identify chromosomal rearrangements in patients with autism and severe mental retardation. CONCLUSIONS: Genotyping large SNP-type collections that are potentially functional in genes that are candidates for these disorders, based on pharmacological, biochemical and neuropathological data together with that coming from animal models and linkage studies in a wide collection of samples from patients and controls, will enable us to identify the genetic components of these pathologies and to define their biological foundations.

Genotipado a gran escala en la investigación del trastorno del espectro autista y el trastorno por déficit de atención con hiperactividad / Large-scale genotyping in research into autism spectrum disorders and attention déficit hyperactivity disorder

Introducción y desarrollo. El trastorno del espectro autista (TEA) y el trastorno por déficit de atención con hiperactividad (TDAH) son dos trastornos neuropsiquiátricos de inicio en la infancia que presentan un elevado grado de agregación familiar. El TEA se caracteriza por alteraciones de la interacción social y problemas de la comunicación, mientras que los pacientes con TDAH presentan inatención persistente y/o comportamiento hiperactivoimpulsivo. A excepción de unos pocos casos de autismo en los que se han descrito anomalías citogenéticas o mutaciones en genes concretos, la etiología de estas enfermedades es desconocida. Se trata de enfermedades multifactoriales, con varios genes con un efecto menor y la contribución del ambiente. Los estudios de ligamiento genético han señalado unas 20 regiones cromosómicas sugestivas de contener genes que confieren susceptibilidad al autismo, al TDAH o a ambos trastornos. Los retos de investigación se centran en la caracterización clínica, el reclutamiento de pacientes con TEA y TDAH, estudios de cuantificación de dosis génica, metilación e hibridación genómica comparada para identificar reordenamientos cromosómicos en pacientes con autismo y retraso mental grave. Conclusión. El genotipado de amplias colecciones del tipo SNP potencialmente funcionales en genes candidatos para estos trastornos, en base a datos farmacológicos, bioquímicos, neuropatológicos, de modelos animales y de estudios de ligamiento, en una amplia colección de muestras de pacientes y controles permitirán identificar los componentes genéticos de estas patologías y definir sus bases biológicas (AU)

Introduction and development. Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are two neuropsychiatric disorders beginning in childhood that present a high degree of familial aggregation. ASD is characterised by social interaction and communication disorders, whereas patients with ADHD display persistent inattention and/or hyperactive-impulsive behaviour. With the exception of a few cases of autism in which cytogenetic anomalies or mutations have been reported in specific genes, the aetiology of these diseases remains unknown. This is a group of multifactorial diseases with several genes having a lesser effect and there is also an environmental component. Genetic linkage studies have pointed to about 20 chromosomal regions that could well contain genes that grant susceptibility to autism, to ADHD or to both disorders. The challenge to researchers lies in the clinical characterisation, recruitment of patients with ASD and ADHD, gene dosage quantification studies, comparative genomic methylation and hybridisation in order to identify chromosomal rearrangements in patients with autism and severe mental retardation. Conclusions. Genotyping large SNP-type collections that are potentially functional in genes that are candidates for these disorders, based on pharmacological, biochemical and neuropathological data together with that coming from animal models and linkage studies in a wide collection of samples from patients and controls, will enable us to identify the genetic components of these pathologies and to define their biological foundations (AU)

Pancreatitis hipertrigliceridémica y embarazo / Hypertriglyceridemic pancreatitis in pregnancy

Una mujer de 33 años, secundípara, con antecedentes de hipertrigliceridemia familiar que se agravó en el embarazo anterior y diabetes gestacional, fue ingresada en la 36 semana de gestación por dolor abdominal difuso, vómitos, febrícula y mal estado general. La muestra de sangre era de aspecto lipémico, lechoso-rosado, con una concentración de triglicéridos plasmáticos de 2173 mg/dl, colesterol de 320 mg/dl, amilasa de 801 U/l, LDH 650 U/l, creatinina 1,5 mg/dl, glucemia de 380 mg/dl y leucocitosis con desviación a la izquierda. Fue diagnosticada de pancreatitis aguda, y por signos de sufrimiento fetal se le realizó una cesárea bajo anestesia general con propofol, succinilcolina, sevoflurano y tras el pinzamiento del cordón rocuronio y fentanilo. El recién nacido nació sano y la paciente evolucionó favorablemente con tratamiento conservador. La incidencia de la pancreatitis en el embarazo es baja, pero de morbimortalidad elevada. La etiología más habitual es la patología del tracto biliar, aunque alteraciones metabólicas poco frecuentes como la hiperlipidemia pueden actuar ocasionalmente como factor desencadenante. Hay que destacar la importancia del diagnóstico y tratamiento precoz de estos procesos como clave para el mejor pronóstico en quirófano y en su seguimiento en la Unidad de Reanimación (AU)

[Early extubation with caudal morphine after pediatric heart surgery]. / Extubación precoz con morfina caudal tras cirugía cardíaca pediátrica.

OBJECTIVES: To analyze the viability of immediate extubation of children after corrective surgery for congenital heart defects with extracorporeal membrane oxygenation using an anesthetic technique involving caudal morphine, and to study the effect on length of stay in the pediatric intensive care unit (PICU) or elsewhere in the hospital. MATERIAL AND METHODS: Twenty-nine ASA I-II patients without coagulation alterations undergoing surgery to correct simple heart defects were selected for extubation after surgery. Anesthesia was provided with with sevoflurane, midazolam, rocuronium, fentanil (maximum dose 10 micrograms/Kg) and a bolus of caudal morphine (50-60 micrograms/Kg) after anesthetic induction. Patient characteristics, type of surgery, times of extracorporeal circulation and of ischemia, arterial blood gases upon arrival in the PICU, postoperative complications and quality of analgesia were the variables analyzed. We also compared length of stay in the PICU and hospital for the study group and for a historical control group of 23 patients who had no received caudal morphine or been selected for early extubation. RESULTS: All patients were extubated satisfactorily in the operating room. None required reintubation or reoperation. Postoperative pain was controlled with metamizol alone for 79.3%. No episodes of respiratory depression or neurological complications were observed. PICU and hospital stays were significantly shorter in the study group than in the control group. CONCLUSIONS: Of patients undergoing simple corrective heart surgery with extracorporeal membrane oxygenation immediate extubation did not increase postoperative morbimortality and shortened the hospital stay. A single dose of caudal morphine provided optimum conditions for extubation and good control of postoperative pain. Strict measures must be taken, however, to avoid postpuncture bleeding.

Extubación precoz con morfina caudal tras cirugía cardíacapediátrica / Early exttubation with caudal morphine after pediatric heart surgery

OBJETIVO: Analizar la viabilidad y la influencia en la estancia en la Unidad de Cuidados Intensivos Pediátricos (UCIP) y en el hospital de la extubación inmediata de niños sometidos a corrección de cardiopatías congénitas bajo circulación extracorpórea (CEC) utilizando una técnica anestésica basada en la administración de morfina caudal. MATERIAL Y MÉTODOS: 29 pacientes ASA I-II, sin alteraciones de la coagulación y sometidos a corrección de una cardiopatía simple, fueron seleccionados para ser extubados tras la intervención. La anestesia se realizó con sevoflurano, midazolam, rocuronio, fentanilo (dosis máxima de 10 µg/Kg) y bolo de morfina caudal (50-60 µg/Kg) tras la inducción anestésica. Se analizaron las variables demográficas, tipo de cirugía, tiempo de CEC y de isquemia, gasometría arterial a su llegada a UCIP, complicaciones postoperatorias y grado de analgesia. Asimismo se compararon las estancias en la UCIP y en el hospital con las de un grupo control histórico de 23 pacientes a los que no se administró morfina caudal ni hubo intencionalidad de conseguir su extubación precoz. RESULTADOS: Todos los pacientes fueron extubados satisfactoriamente en quirófano. Ninguno requirió reintubación o reintervención. En el 79,3 por ciento de los casos el dolor se controló sólo con metamizol durante el postoperatorio. No se registraron episodios de depresión respiratoria ni complicaciones neurológicas. La estancia en UCIP y hospitalaria fueron significativamente más bajas que en el grupo control. CONCLUSIONES: La extubación inmediata de pacientes intervenidos por cardiopatía simple bajo CEC no aumentó la morbimortalidad postoperatoria y acortó la estancia hospitalaria. La morfina caudal en dosis única proporcionó unas condiciones óptimas para la extubación y un buen control del dolor postoperatorio, aunque deben extremarse las precauciones para prevenir un sangrado postpunción (AU)