Expanding the phenotypic and genotypic characteristics of trichohepatoenteric syndrome: a report of eight patients from five unrelated families.

BACKGROUND: Trichohepatoenteric syndrome (THES) is characterized by neonatal-onset intractable diarrhea. It often requires long-term total parenteral nutrition (TPN). In addition, other characteristic findings of the syndrome include growth retardation, facial dysmorphism, hair abnormalities, various immunological problems and other rare system findings. Two genes and their associated pathogenic variants have been associated with this syndrome: SKIC3 and SKIC2. METHODS AND RESULTS: In this case series, the clinical findings and molecular analysis results of a total of 8 patients from 5 different families who presented with persistent diarrhea and were diagnosed with THES were shared. Pathogenic variants were detected in the SKIC3 gene in 6 of our patients and in the SKIC2 gene in 2 patients. It was planned to compare the clinical findings of our patients with other patients, together with literature data, and to present yet-undefined phenotypic features that may be related to THES. In our case series, in addition to our patients with a novel variant, patient number 2 had a dual phenotype (THES and Spondyloepimetaphyseal dysplasia, sponastrime type) that has not been reported yet. Delay in gross motor skills, mild cognitive impairment, radioulnar synostosis, osteoporosis, nephropathy and cystic lesions (renal and liver) were observed as unreported phenotypic findings. CONCLUSIONS: We are expanding the clinical and molecular repertoire of the syndrome regarding patients diagnosed with THES. We recommend that the NGS (next-generation sequencing) multigene panel should be used as a diagnostic tool in cases with persistent diarrhea.

Chronic diarrhoea due to trichohepatoenteric syndrome (THES) in an infant.

An infant was admitted with suspected postinfectious malabsorption with watery diarrhoea, fever and failure to thrive. She had dehydration, acute kidney injury and metabolic acidosis, which were corrected with intravenous fluids and managed with empiric antibiotics and prophylactic antifungals. She also developed Escherichia coli sepsis, meningitis and Candida skin infections during hospitalisation, which were treated according to the culture reports. Intrauterine growth restriction, woolly hair and a broad nasal bridge with chronic refractory diarrhoea prompted genetic testing to rule out syndromic diarrhoea. Whole-exome sequencing revealed a pathogenic compound heterozygous mutation causing trichohepatoenteric syndrome. She succumbed to severe infections at 80 days of life. The condition is rare, and no established guidelines or specific treatments exist; the focus is to promote optimal growth through parenteral nutrition, elemental formula and infection control. Early suspicion and molecular genetic testing can help reduce the time to diagnosis, treatment and genetic counselling.

Probióticos y prebióticos: rol en la terapéutica de la enfermedad diarreica aguda infantil / Probiotics and prebiotics: its role in childhood acute diarrheal disease therapy

RESUMEN: La enfermedad diarreica aguda infantil (EDAI), constituye un problema de salud pública, representando la 2ª causa de morbimortalidad infantil en menores de 5 años, en el Ecuador. La hidratación oral y parenteral en los niños hospitalizados bajo normas de administración de conformidad con el grado de deshidratación y pérdida de peso, así como medidas preventivas como la vacunación obligatoria contra el rotavirus, han contribuido a disminuir, pero no a solucionar este problema de salud infantil. Múltiples factores contribuyen para que no se resuelva: socioeconómicos, educacionales, el destete temprano y malas prácticas alimenticias, entre otros. Últimos estudios han propuesto la utilización de probióticos que contribuyan a disminuir el problema sugieriendo el usode Saccharomyces boulardii (SB), asociado a un prebiótico; lo que permitiría acortar el tiempo de tratamiento de una EDAI; por lo que la simbiosis entre SB y un prebiótico denominado fructooligosacárido (FOS), podría ser una alternativa para reducir costos y complicaciones. Una alternativa para medir el curso clínico de una EDAI en infantes es la escala BITTS, de reciente creación y fácil aplicación por clínicos. El objetivo de este manuscrito fue resumir la evidencia existente respecto del rol de losprobióticos y prebióticos en la terapéutica de de la EDAI.

SUMMARY: In Ecuador childhood acute diarrheal disease (CADD) constitutes a serious public health problem, representing the 2nd cause of infant morbidity and mortality in children under 5 years of age. Oral and parenteral hydration in hospitalized children, with standard treatments according to their degree of dehydration and weight loss, as well as preventive measures such as mandatory vaccination against rotavirus, have contributed to a decrease. Nevertheless, this childhood disease has still not been resolved. There are multiple contributing factors involved that prevent complete eradication of the disease Among these are socio-economic problems, education, early weaning and poor feeding practices, all of which continue to affect infants. Recent studies have proposed the use of probiotics that help reduce the problem and it has been suggested that Saccharomyces boulardii (SB), associated with a prebiotic, would reduce the treatment time of an CADD. Therefore, the symbiosis between the SB probiotic and a prebiotic called fructo- oligosaccharide (FOS) could be an alternative to reduce complications and reduce costs. An alternative to measure the clinical course of an CADD in infants is the BITTS scale, which was recently created and can easily be applied by clinicians. The aim of this manuscript was to summarize the existing evidence regarding the role of PROBIOTICS and prebiotics in the treatment of CADD.

Choque por dengue interpretado inicialmente como sepsis grave / Shock by dengue initially interpreted as severe sepsis

Introducción: La forma más frecuente de dengue grave es el choque por dengue. Sin embargo, los lactantes con dengue no presentan las manifestaciones clinicas que lo caracterizan ni tienen tan a menudo esta complicación como lo hacen los pacientes con edades mayores. Objetivo: Dar a conocer las características clinicas y laboratoriales de una paciente menor de un año de edad cuyo síndrome de choque por dengue fue interpretado inicialmente como un caso de sepsis grave. Presentación del caso: Paciente femenina de 8 meses de edad con fiebre y diarreas que concurre a más de un centro hospitalario y la madre se niega a ingresarla. Al quinto dia de enfermedad apareció exantema y ya estando afebril presenta cianosis y otros signos de hipoperfusión tissular, haciéndole diagnóstico inicial de choque por sepsis. Responde satisfactoriamente a la reposición de líquidos cristaloides por via intravenosa administrados inicialmente y es enviada despues a una unidad de terapia intensiva pediátrica donde continua recibiendo tratamiento de rehidratacion y se inicia antibioticoterapia. Posteriormente, la sepsis fue descartada por la evolución del caso y los resultados de laboratorio clinico y microbiológicos, asi como una serología positiva a dengue. Conclusiones. El choque por dengue en el lactante puede expresarse sin su cuadro clinico típico y para su diagnostico es imprescindible considerar el antecedente epidemiológico(AU).

Introduction: The most common form of severe dengue is the dengue shock syndrome. However, infants with dengue don´t present the clinical manifestations that characterize it neither have this complication as often as older patients do. Objective: To know the clinical and laboratory characteristics of a patient of less than one-year-old whose dengue shock syndrome was initially interpreted as a case of severe sepsis. Case presentation: 8-months-old female patient with fever and diarrhea that was checked in more than one hospital and the mother refuses to hospitalize her. In the fifth day of being ill appeared exanthem, and having fever she presented cyanosis and other signs of tisular hypoperfusion, being initially diagnosed a sepsis shock. She responded satisfactorily to the replacement of crystalloid fluids intravenously administered initially and she was sent to a pediatric intensive care unit where she continued receiving rehydration treatment and antibiotic therapy was started. Subsequently, sepsis was ruled out due to the case´s evolutions and the clinical and microbiological laboratory´s results, as well as a serology positive to dengue fever. Conclusions: Dengue shock syndrome in an infant can present without its typical clinical manifestations and for its diagnosis is essential to consider the epidemiological history(AU)

Eosinophilic colitis in infants / Colite eosinofílica em lactentes

OBJECTIVE: To review the literature for clinical data on infants with allergic or eosinophilic colitis. DATA SOURCE: MEDLINE search of all indexes was performed using the words ''colitis or procto-colitis and eosinophilic'' or ''colitis or proctocolitis and allergic'' between 1966 and February of 2013. All articles that described patients' characteristics were selected. DATA SYNTHESIS: A total of 770 articles were identified, of which 32 met the inclusion criteria. The 32 articles included a total of 314 infants. According to the available information, 61.6% of infants were male and 78.6% were younger than 6 months. Of the 314 patients, 49.0% were fed exclusively breast milk, 44.2% received cow's milk protein, and 6.8% received soy protein. Diarrheal stools were described in 28.3% of patients. Eosinophilia was found in 43.8% (115/263) of infants. Colonic or rectal biopsy showed infiltration by eosinophils (between 5 and 25 perhigh-power field) in 89.3% (236/264) of patients. Most patients showed improvement with theremoval of the protein in cow's milk from their diet or the mother's diet. Allergy challenge tests with cow's milk protein were cited by 12 of the 32 articles (66 patients). CONCLUSIONS: Eosinophilic colitis occurs predominantly in the first six months of life and in males. Allergy to cow's milk was considered the main cause of eosinophilic colitis. Exclusion of cow'smilk from the diet of the lactating mother or from the infant's diet is generally an effective therapeutic measure. .

OBJETIVO: Revisão da literatura sobre dados clínicos de lactentes com colite eosinofílica oualérgica. FONTE DOS DADOS: Pesquisa no Medline de todas as indexações com as palavras ''colitis or proc-tocolitis and eosinophilic'' ou ''colitis or proctocolitis and allergic'' entre 1966 e fevereiro de 2013. Foram selecionados todos os artigos que descreviam as características dos pacientes. SÍNTESE DOS DADOS: Foram identificados 770 artigos dos quais 32 preenchiam os critérios de inclusão. Os 32 artigos incluíram o total de 314 lactentes. Conforme as informações disponíveis, 61,6% dos lactentes eram do sexo masculino e 78,6% apresentavam idade inferior a 6 meses. Dos 314 pacientes, 49,0% encontrava-se em aleitamento natural exclusivo, 44,2% recebiam proteína do leite de vaca e 6,8% proteína da soja. Fezes diarreicas foram descritas em 28,3% dos pacientes. Eosinofilia foi encontrada em 43,8% (115/263) dos lactentes. Biópsia retal ou colônica mostrou infiltração por eosinófilos (entre 5 e 25 por campo de grande aumento) em 89,3% (236/264) dos pacientes. A maioria dos pacientes apresentou melhora com a retirada da proteína do leite de vaca da sua dieta ou das suas mães. Teste de desencadeamento com proteína do leite de vaca foi citado em 12 dos 32 artigos (66 pacientes). CONCLUSÕES: Colite eosinofílica ocorre predominantemente nos primeiros seis meses de vida e no sexo masculino. Alergia ao leite de vaca foi considerada a principal causa de colite eosinofílica. Dieta de exclusão do leite de vaca da mãe lactante ou da dieta do lactente é uma medidate rapêutica geralmente eficaz. .

Manejo nutricional de las intolerancias digestivas más comunes del lactante / Nutritional management of the most common digestive intolerance in infants

Las intolerancias digestivas más comunes del lactante i n c l u y e n e s t r e ñ imi e n t o , r e g u r g i t a c i ó n , llanto/irritabilidad, cólico, gas excesivo y diarrea, que en muchos casos, pueden ser normales, sin embargo, es frecuente ante estas intolerancias, cambiar las fórmulas infantiles. En el presente artículo, un grupo de profesionales de la salud relacionados con la gastroenterología y alergología pediátrica, describen los antecedentes, las definiciones, y el manejo nutricional de cada una de estas intolerancias digestivas.

The most common symptoms of digestive intolerances in infants include constipation, regurgitation,crying/irritability, cramps, excessive gas and diarrhea. Some of these symptoms may be completely normaland are explained in part as a result of the maturation process of the GI tract of young infants. However, it isvery common that parents and doctors due to any of these symptoms switch formulas. A group of experts'pediatric gastroenterologists and pediatric allergists from different countries decided to review this topicand provide practical recommendations.

Nuevos y viejos agentes asociados a diarrea en niños en Honduras / New and old agents of acute diarrhea In children In Honduras

INTRODUCCIÓN: La diarrea es la segunda causa de morbilidad y mortalidad en niños menores de 5 años en Honduras. El objetivo de este estudio fue determinar los agentes etiológicos virales, bacterianos y parasitarios en niños con diarrea no sanguino lenta de 2 barrios marginales de Comayagüela, Honduras. METODOLOGÍA: Estudio de casos y controles realizado del 1er de marzo al 31 de agosto 2004 en los centros de Salud de Las Crucitas y El Carrizal, en 151 niños de 6 meses a 5 años de edad con diarrea aguda que acudieron por demanda espontanea; con los correspondientes 151 controles apareados por edad, sexo y vecindario, una vez obtenido el consentimiento informado. Las muestras de heces se procesaron por virus, bacterias y parásitos utilizando métodos convencionales en el laboratorio. El análisis estadístico además de la prueba exacta de Fisher. RESULTADOS: Se encontró una asociación significativa entre los niños infectados por Cryptosporidium spp. y Adenovirus y los episodios de diarrea aguda, comparada con los no infectados por esos agentes patógenos (OR=9.31, 95%CI=1.24 - 69.97; OR = 5.47, 95%CI=1.51 – 19.80, respectivamente); los 8 pacientes infectados con Rotavirus tenían un cuadro diarreico agudo evidente (prueba exacta de Fisher p<0.01). CONCLUSIONES: Las infecciones por Adenovirus, Rotavirus y Cryptosporidium spp. se asociaron fuertemente con diarrea aguda no sanguinolenta en niños en Honduras...

Relação entre aleitamento materno e internações por doenças diarreicas nas crianças com menos de um ano de vida nas capitais brasileiras e Distrito Federal, 2008 / Relationship between breastfeeding and hospitalization due to diarrheal diseases among Children Under one year of Life in Brazilian state capitals and the Federal District, 2008

Objetivo: avaliar a relação entre aleitamento materno e internações por doenças diarreicas em crianças com menos de um ano de vida nas capitais brasileiras e no Distrito Federal, em 2008. Metodologia: trata-se de estudo epidemiológico ecológico que utiliza dados secundários de internação por doenças diarréias (desfecho) e de prevalência de aleitamento materno (exposição); foi estimado modelo estatístico binomial negativo [intervalo de confiança (IC) de 95 por cento], ajustado por rede de abastecimento de água e esgoto e analfabetismo da população. Resultados: tanto o aleitamento materno exclusivo (razão de taxas = 0,76; IC95 por cento: 0,61-0,94) quanto o aleitamento materno em crianças com nove a doze meses incompletos de vida (razão de taxas = 0,72; IC95 por cento: 0,52-0,99) podem reduzir as taxas de internação por doenças diarreicas na população estudada. Conclusão: os resultados sugerem que o aleitamento materno é uma pratica importante para redução média da taxa de internação hospitalar por doenças diarreicas na população de crianças com menos de um ano de vida.

Objective: evaluate the relationship between breastfeeding and hospitalization due to diarrheal diseases among children under one year of life in Brazilian state capitals and the Federal District, in 2008. Methodology: this is an epidemiological ecological study that employ Brazilian secondary data of hospitalization due to diarrheal diseases (outcome) and breastfeeding prevalences (exposure); a binomial negative statistical model has been estimated [confidence interval (CI) of 95 per cent], adjusted by water supply, sanitation and analfabetism of the population. RESULTS: both exclusive breastfeeding (RT = 0.76; CI95 per cent 0.61-0.94) and breastfeeding in children from nine to twelve incomplete months of life (RT = 0.72; CI95 per cent 0.52-0.99) can reduce hospitalization rates due to diarrheal diseases among the population. Conclusion: the results suggest that breastfeeding is an important practice to reduce hospitalization mean taxes due to diarrheal diseases among children up to one year of age.

Diarrea funcional como causa de diarrea crónica / Functional diarrhea as cause of chronic diarrhea

La diarrea funcional se presenta con frecuencia en la práctica pediátrica, y generalmente no se asocia a alteraciones nutricionales, pero sí a esquemas dietéticos incorrectos. Se actualiza su importancia clínica, se hace énfasis en la patogenia, diagnóstico y en los métodos de tratamiento. Consideramos que es la causa más frecuente de diarrea crónica inespecífica y que el interrogatorio dirigido según los criterios de Roma es útil para su diagnóstico. La mayoría de los pacientes con esta enfermedad en la infancia deben ser tratados en la atención primaria

The functional diarrhea is frequent in the pediatric practice and in general it is not associated with nutritional alterations, but to incorrect dietary schemes. Its clinical significance is updated and its pathogenesis, diagnosis and treatment methods are emphasized. Authors considered that the functional diarrhea is the more frequent cause of unspecific chronic diarrhea and the questioning directed according the Rome criteria is very useful for its diagnosis. Most of patients presenting with this disease during childhood must to be treated in primary care services

Nucleótidos y carotenoides naturales / Nucleotides and carotenoids

El concepto de los nucleótidos no es nuevo; máxime que son elementos que hacen parte de los componentes naturales de la leche materna. Casi todos los estudios señalan que el consumo de carotenoides, previenen el desarrollo de enfermedades crónicas en la edad adulta, posiblemente por su efecto antioxidante que disminuye el estrés oxidativo, mejorando enfermedades degenerativas y malignas.

The concept of nucleotides is not new, especially since they are elements that are part of the natural components of human milk. Most studies indicate that the consumption of carotenoids, prevent the development of chronic diseases in adulthood, possibly by its antioxidant effect that reduces oxidative stress, improving degenerative diseases and malignancies.

Prevalence of rotavirus in feces of children with acute diarrhea: clinical signs and associated symptoms / Prevalência de rotavírus em fezes de crianças com diarreia aguda: sinais e sintomas clínicos associados

Introduction: Rotavirus is a very common etiologic agent in acute diarrheas in children worldwide, affecting mainly children under five years of age. The overall annual mortality associated with rotavirus infection was estimated at 454000-705000 deaths annually, predominantly in the developing countries. The aim of this study was to describe the prevalence and serotypes of rotavirus in a region of Brazil, as well as to present a clinical evaluation of this diarrheal disorder in children. Methods: Cross-sectional study which selected 124 samples from the same number of children under five years of age with acute gastroenteritis, attended to in a Basic Health Unit. Results: Thirty-one samples were positive for rotavirus A, with higher occurrence from September to March (p <0.05). With respect to genotype G, 16 (80%) samples were rated as G1. P genotype showed that all strains were P[8]. Dehydration was found 2.45 times more often among children infected with rotavirus. Conclusion: It is hoped that determining the prevalence of infection and disease caused by rotavirus and the characterization of the profile of circulating viral strains may contribute to information on the molecular biology and epidemiology of infection by that agent

Introdução: O rotavírus é agente etiológico muito comum em diarreias agudas em crianças, em todo o mundo, afetando principalmente crianças menores de cinco anos de idade. A mortalidade anual global associada a infecções por rotavírus foi estimada em 454.000 a 705.000 mortes por ano, predominantemente nos países em desenvolvimento. Os objetivos deste estudo foi descrever os sorotipos circulantes e a prevalência de rotavírus em uma região do Brasil, bem como, apresentar a caracterização clínica da doença diarréica em crianças. Métodos: Estudo transversal que selecionou 124 amostras de um mesmo número de crianças de até cinco anos de idade, com gastrenterite aguda, atendidas em uma Unidade Básica de Saúde. Resultados: Trinta e uma amostras foram positivas para rotavírus A com maior ocorrência de setembro a março (p < 0,05). Com relação ao genótipo G, 16 (80%) amostras foram classificadas como G1. O genótipo P mostrou que todas as cepas eram P[8]. A desidratação foi encontrada 2,45 vezes mais entre crianças infectadas com rotavírus. Conclusão: Espera-se que a determinação da prevalência da infecção e doença provocada pelo rotavírus e a caracterização do perfil de cepas virais circulantes possa contribuir para informação sobre a biologia molecular e a epidemiologia da infecção pelo referido agente

Zinc en la infancia: rompiendo paradigmas / Zinc in childhood: breaking paradigms

El zinc es un ejemplo de un micronutriente esencial, cuya deficiencia juega un papelimportante en la comprensión de las altas tasas de mortalidad y morbilidad infantil en países en desarrollo. Tanto la deficiencia intermedia de zinc como de vitamina A, pueden pasar inadvertidas clínicamente. Con respecto a la inmunidad, el zinc es fundamental para las funciones de tejidos de alto recambio, especialmente en el sistema inmunitario, y su deficiencia se asocia a alteraciones de la inmunidad innata, la inmunidad humoral y la inmunidad celular. Existe evidencia que avala la s u p l eme n t a c i o n d e z i n c d u r a n t e e inmediatamente después de un episodio de diarrea aguda, con lo que se disminuye su tiempo de duración y la gravedad, con reducción en la incidencia de diarrea en los dos o tres meses siguientes.Aun no se conoce exactamente cuál es el mecanismo que explique por qué se encuentra limitada la proliferación celular ante la deficiencia de zinc.

Zinc is an example of an essential micronutrient whose deficiency plays an important role in understanding the high rates of infant mortality and morbidity in developing countries. Both intermediate zinc deficiency and vitamin A, may go unnoticed clinically.With respect to immunity, zinc is essential for the functions of tissues of high turnover, especially in the immune system, and its deficiency is associated with alterations of innate immunity, humoral immunity and cellular immunity. There is evidence supporting zinc supplementation during and immediately after an episode of acute diarrhea, which shortens their duration and severity, with a reduction in the incidence of diarrhea in the two or three months. Still not known exactly what the mechanism that explains why it is limited to cell proliferation in zinc deficiency.

Perfil de la diarrea aguda en niños hospitalizados de Santa Bárbara / Profile of acute diarrhea in hospitalized children from Santa Barbara

Introducción: la diarrea aguda ha sido una de las principales causas de morbilidad y mortalidad en la infancia. Estudiar el comportamiento clínicos y epidemiológico de la diarrea en menores de cinco años ingresados en el Servicio de Pediatría del Hospital Santa Bárbara Integrado de Honduras durante los primeros cinco meses del año 2008. Pacientes y métodos: El universo estuvo constituido por 200 niños desde cero hasta cinco años que ingresaron en el servicio con el diagnóstico de Enfermedad Diarreica Aguda en el transcurso de una epidemia. Se utilizó un cuestionario que fue aplicado a las madres y además se utilizó información de los expedientes clínicos de los pacientes. Resultados: La afectación fue en el amplio grupo de 1 hasta 4 años, con predominio en el sexo masculino y la mayoría de los pacientes estaban eutróficos. El bajo percápita familiar, el hacinamiento y la baja escolaridad materna fueron los principales antecedentes de riesgo detectados. La deshidratación fue la principal complicación y no ocurrieron defunciones. Conclusión: Los hallazgos clínicos y epidemiológicos encontrados en este grupo indican que las condiciones socioeconómicas se asocian a enfermedad diarreica...

Prevalencia de norovirus como agente etiológico de gastroenteritis en niños venezolanos / Prevalence of norovirus like gastroenteritis etiologic agent in venezuelan children

Las gastroenteritis representan una causa importante de morbimortalidad en el mundo y en Venezuela. Su etioligía en infantes es principalmente viral, encontrando a los Norovirus como agentes asociados. Considerando la escasa documentación al respecto, se realizó este estudio para evaluar la prevalencia de Norovirus en niños de 0 a 10 años con diarrea aguda que acudieron a la Policlínica Metropolitana en Caracas; verificando su asociación con otros factores etiológicos y demográficos. 102 muestras fecales fueron sometidas al análisis bacteriológico, parasitológico y viral, utilizando para la detección de Norovirus un ensayo ELISA RIDASCREEN Norwalk-like-Virus. Al análisis estadístico incluyó los índices O. R, y Chi Cuadrado para analizar las frecuencias de los agentes etiológicos, permitiendo además verificar si la diarrea por Norovirus era Independiente de otros patogénos, del sexo y grupos etareos. Se utilizó Excel y el paquete estadístico SPSS 1.0. Los resultados sugirieron que el riesgo de diarrea por Norovirus se sextuplicó en los niños de 1-2 años en comparación con los mayores a 5 años (O.R 5,8842 p:0,0070;x210,879 p:0,012). En los casos positivos, la prevalencia de Norovirus fue del 68,9% y 30% de ellos presentó coinfección con otros patógenos, pero la asociación no fue significativa (p>0,05). Considerando los casos de diarrea que quedan sin diagnósticar, sería lógico pensar que Norovirus circularía con una lata frecuencia en Venezuela, ya que la prevalencia fue superior a la resprtada en otras poblaciones (39,2% vs 5-33%). El impacto de las infecciones por Norovirus en Venezuela se desconece completamente y debe ser estudiado con mayor profundidad.

Gastroenteritis is a very important cause of mobility and mortality in Venezuela and the rest of the World. Their etiology on children is mainly caused by viruses, including Norovirus. Considering the lack of related documentarion in Venezuela, we performed a study in order to calculate the prevalence of Norovirus on children betwen 0 to 10 years old, with acute diarrhea treated on the Policlinica Metropolitna, Caracas; also we analyzed his association with other etiological and demographic factors. 102 stool samples were tested for bacteria parasitic and viruses. For Norovirus we used the ELISA RIDASCREEN Norwalk-like-Virus, (r-biopharm, Germany). The statistical calculations included O.R. and Chi Square ratios, in order to analyze the frequency of the different etiological agents and also to verify if the diarrheas for Norovirus were independent from other pathogenic agents, sex or age groups. We used Excel and SPSS 1.0 software for statistical calculations. The results suggested that the risk of getting a diarrhea caused for Norovirus was 6 times higher on children from 1 to 2 years old than those older that five years old. (OR 5,8842 p:0,0070;x210,879p:0,012) The prevalence for Norovirus was 68,9% and 30% of them presented simultaneous infection with other pathogenic agents, but this association wasn't significative (p>0,05). Considering the high number of diarrhea cases that lack of a proper etiological diagnostic, it's possible that the Norovirus are circulating with a high frequency in Venezuela, due the prevalence reported on this study is above the reported in other population studies (39,2% vs 5-33%). The actual impact of Norovirus in Venezuela is still unknown and must be study with more detail.

Patogénesis molecular, epidemiología y diagnóstico de Escherichia coli enteropatógena / Molecular pathogenesis, epidemiology and diagnosis of enteropathogenic Escherichia coli

Escherichia coli enteropatógena (EPEC) es una de las principales causas de diarrea en niños menores de dos años en países en vías de desarrollo. La principal característica histopatológica de la infección es una lesión que induce la EPEC en el intestino conocida como la lesión A/E (adherencia y eliminación). Las bacterias se adhieren a los enterocitos y permiten la acumulación de la actina del citoesqueleto en la región apical de la célula, hasta formar una estructura de tipo "pedestal" y causar la eliminación de las microvellosidades intestinales. A pesar de que se conoce de modo detallado el proceso de formación de los pedestales de actina, aún no se ha esclarecido el mecanismo global de la diarrea que induce EPEC. La diarrea se ha vinculado con: a) la destrucción de las microvellosidades del enterocito, b) la salida masiva de iones hacia la luz intestinal y c) la secreción de alguna enterotoxina. En estudios realizados en países en vías de desarrollo se ha demostrado que EPEC es uno de los principales agentes participantes en la diarrea infantil, con elevadas tasas de morbilidad y mortalidad. El diagnóstico microbiológico de la infección se realiza con metodologías adicionales a las utilizadas con regularidad en el laboratorio de microbiología clínica, entre ellas las siguientes: a) serotipificación, b) ensayo de adherencia, c) prueba de FAS (tinción fluorescente para actina) y d) detección específica de genes que codifican a proteínas incluidas en la patogénesis, como el bfpA y eae. Un objetivo de esta revisión es actualizar los avances observados en la patogénesis molecular de la infección por EPEC, las metodologías para el diagnóstico microbiológico y la epidemiología en México y otros países en vías de desarrollo.

Enteropathogenic Escherichia coli (EPEC) is a leading cause of diarrhea in infants less than two years of age in developing countries. To induce diarrhea EPEC uses several virulence factors acting on a still unknown and mysterious mechanism. The hallmark of EPEC infection is a histological intestinal alteration known as the attaching and effacing (A/E) lesion. The bacterium attaches intimately to the enterocyte and induces assembly of cytoskeleton intracellular actin on the cellular surface. Rearrangements of the actin cytoskeleton form a pedestal-like structure where bacterium tightly cups the cells, leading to degeneration of brush border microvilli. Although the mechanism of EPEC-induced pedestal formation has been dissected in detail, the overall mechanism of diarrhea is still obscure. It is believed that EPEC-mediated secretory diarrhea is related to a) intestinal microvilli effacement, b) massive loss of intracellular ions into the intestinal milieu and c) secretion of an EPEC enterotoxin. Epidemiological studies conducted in developing countries have shown that EPEC is one of the main bacteria frequently isolated from children with diarrhea, causing high morbidity and mortality rates. The microbiological diagnosis of EPEC-induced disease is performed with analytic methodologies different from those used by the standard microbiology laboratory, the most relevant being: a) serotypification, b) the adherence assay, c) FAS test, and d) the specific detection of virulence-involved genes (bfpA and eae genes) using molecular biology techniques. The purpose of this review is to update the most recent findings regarding the molecular pathogenesis of EPEC, its epidemiology in Mexico as well as other developing countries, and also the developed methodology for the diagnosis of EPEC infection.

Influencia de la consulta previa con empíricos sobre la morbilidad y mortalidad de niños internados / Influence of previous consultation with non-medical personnel

Los niños que consultan en los hospitales públicos del Paraguay y que requieren hospitalización, han recibido en gran medida medicaciones tradicionales, principalmente hierbas medicinales de gran arraigo popular. Estas son administradas por prescripción de la propia familia del niño, o por curanderos.