Conocimiento sobre dengue en dos ciudades de alto y bajo riesgo del Departamento Central, Paraguay 2016 / Dengue awareness in two high and low risk cities of the Central Department, Paraguay 2016

Introducción: El conocimiento sobre el dengue incluye la presentación clínica, modo de transmisión vectorial, medidas de prevención y fuente de la información. Objetivo: Determinar el conocimiento sobre el dengue en dos ciudades de alto y bajo riesgo según endemicidad, Paraguay 2016 Metodología: Observacional, analítico, de corte transversal. La Dirección de Vigilancia de la Salud construye escenarios epidemiológicos regionales clasificándolas en endémica y no endémica según la endemicidad. Las zonas endémicas se reclasifican según umbrales epidémicos en alto riesgo, riesgo medio y bajo riesgo. Se seleccionaron dos distritos, San Lorenzo, de alto riesgo (AR) e Itauguá de bajo riesgo (BR); se realizó muestreo aleatorio simple trietápico (manzanas, casas, personas). Se analizó el conocimiento sobre el dengue según síntomas clínicos, modo de transmisión, medidas preventivas y fuentes de información. Se consideró alto conocimiento haber alcanzado un nivel del 80% o más. Se utilizaron frecuencias y porcentajes para la estadística descriptiva; se estimó la relación entre variables cualitativas con Chi cuadrado, OR con IC 95%, valor de p < 0,05, utilizando Epi Info 7. Resultados: Se entrevistaron 201 personas de ambos distritos; el 80% en AR y 73% en BR eran de sexo femenino. En ambos distritos describen fiebre, cefalea y dolor como los síntomas más conocidos (95%, 85%, 69% AR - 93%, 80%, 43%, BR). Picadura del mosquito citado como modo de trasmisión (73% AR - 68% BR. En cuanto a las medidas de prevención 84% (BR) y 80% (AR) consideran, la eliminación de criadero como la más importante; 80% (BR) y 90% (AR) que es responsabilidad de los miembros del hogar. Los medios masivos de comunicación fueron la fuente de información (85% AR - 59% BR), Se encontró que, al vivir en una zona de alta endemicidad, existe una oportunidad de 2,6 veces más de conocer los síntomas de la enfermedad OR=2,6 (IC 1,35 - 5,1). Conclusión: Se ha encontrado un alto nivel de conocimiento sobre los síntomas, el modo de transmisión y las medidas de prevención. Vivir en una comunidad de alto riesgo facilita el reconocimiento de los síntomas.

Introduction: Knowledge about dengue includes clinical presentation, vector transmission mode, prevention measures and source of information. Objective: To determine the knowledge about dengue in two cities with high and low risk according to endemicity, Paraguay 2016 Methodology: Observational, analytical, cross-sectional. The Health Surveillance Directorate builds regional epidemiological scenarios, classifying them as endemic and non-endemic according to endemicity. Endemic areas are reclassified according to epidemic thresholds in high risk, medium risk and low risk. Two districts were selected, San Lorenzo, high risk (AR) and Itauguá low risk (BR); Simple three-stage random sampling was carried out (blocks, houses, people). Knowledge about dengue was analyzed according to clinical symptoms, mode of transmission, preventive measures and sources of information. High knowledge was considered to have reached a level of 80% or more. Frequencies and percentages were used for descriptive statistics; The relationship between qualitative variables was estimated with Chi square, OR with 95% CI, p <0.05, using Epi Info 7. Results: 201 people from both districts were interviewed; 80% in RA and 73% in BR were female. In both districts they describe fever, headache and pain as the best known symptoms (95%, 85%, 69% AR - 93%, 80%, 43%, BR). Mosquito bite cited as mode of transmission (73% AR - 68% BR. Regarding prevention measures, 84% (BR) and 80% (AR) consider the elimination of the breeding site as the most important; 80% (BR ) and 90% (AR) which is the responsibility of the household members. The mass media were the source of information (85% AR - 59% BR), It was found that, living in an area of ​​high endemic burden, there is a 2.6 times more chance of knowing the symptoms of the disease OR = 2.6 (CI 1.35 - 5.1). Conclusion: A high level of knowledge about symptoms, mode of transmission and prevention measures has been found. Living in a high-risk community makes it easier to recognize symptoms.

Terapias adyuvantes a la terapia antifibrótica en la fibrosis pulmonar idiopática: importancia del manejo multidisciplinario / Adjuvant therapies to antifibrotic therapy in IPF: importance of multidisciplinary management

La fibrosis pulmonar idiopática (FPI) se caracteriza por presentar una capacidad funcional reducida, disnea e hipoxia inducida por el ejercicio, lo que disminuye su tolerancia al esfuerzo y limita su capacidad de realizar actividades diarias. Las comorbilidades son frecuentes y su presencia contribuyen al empeoramiento de la calidad de vida y aumento de la mortalidad. Por lo anterior, es que además de las terapias antifibróticas, los pacientes con FPI se benefician de un enfoque integral de la atención que puede incluir: pesquisa, diagnóstico y tratamiento de comorbilidades, ingreso a protocolos de investigación, manejo sintomático, cuidados paliativos, oxígeno suplementario, rehabilitación pulmonar, educación y apoyo por un equipo multidisciplinario.

Idiopathic pulmonary fibrosis (IPF) is characterized by reduced functional capacity, dyspnea and exercise-induced hypoxia, which decreases tolerance to exertion and limits the ability to perform daily activities. Comorbidities are frequent and their presence contribute to worsening quality of life and increased mortality. Therefore, in addition to antifibrotic therapies, patients with IPF benefit of a comprehensive approach to care that may include: screening, diagnosis and treatment of comorbidities, admission to research protocols, symptomatic management, palliative care, supplementary oxygen, pulmonary rehabilitation, education and support by a multidisciplinary team.

Re-emergence of rabies virus maintained by canid populations in Paraguay.

Paraguay has registered no human cases of rabies since 2004, and the last case in dogs, reported in 2009, was due to a variant maintained in the common vampire bat "Desmodus rotundus". In 2014, a dog was diagnosed as positive for rabies with aggression towards a boy and all required measures of control were successfully adopted. Epidemiological investigation revealed that the dog was not vaccinated and had been attacked by a crab-eating fox, "zorro" (Cerdocyon thous). The sample was diagnosed by the Official Veterinary Service of the Country and sent to the Center on Rabies Research from the University of São Paulo, Brazil, for antigenic and genetic characterization. A second sample from a dog positive for rabies in the same region in 2015 and 11 samples from a rabies outbreak from Asuncion in 1996 were also characterized. The antigenic profile of the samples, AgV2, was compatible with one of the variants maintained by dogs in Latin America. In genetic characterization, the samples segregated in the canine (domestic and wild species)-related group in an independent subgroup that also included samples from Argentina. These results and the epidemiology of the case indicate that even with the control of rabies in domestic animals, the virus can still circulate in wildlife and may be transmitted to domestic animals and humans, demonstrating the importance of continuous and improved surveillance and control of rabies, including in wild species, to prevent outbreaks in controlled areas.

Re-emergence of rabies virus maintained by canid populations in Paraguay

Paraguay has registered no human cases of rabies since 2004, and the last case in dogs, reported in 2009, was due to a variant maintained in the common vampire bat "Desmodus rotundus". In 2014, a dog was diagnosed as positive for rabies with aggression towards a boy and all required measures of control were successfully adopted. Epidemiological investigation revealed that the dog was not vaccinated and had been attacked by a crab­eating fox, "zorro" (Cerdocyon thous). The sample was diagnosed by the Official Veterinary Service of the Country and sent to the Center on Rabies Research from the University of São Paulo, Brazil, for antigenic and genetic characterization. A second sample from a dog positive for rabies in the same region in 2015 and 11 samples from a rabies outbreak from Asuncion in 1996 were also characterized. The antigenic profile of the samples, AgV2, was compatible with one of the variants maintained by dogs in Latin America. In genetic characterization, the samples segregated in the canine (domestic and wild species)­related group in an independent subgroup that also included samples from Argentina. These results and the epidemiology of the case indicate that even with the control of rabies in domestic animals, the virus can still circulate in wildlife and may be transmitted to domestic animals and humans, demonstrating the importance of continuous and improved surveillance and control of rabies, including in wild species, to prevent outbreaks in controlled areas.(AU)

Errores innatos del metabolismo / Inborn errors of metabolism

Los Errores Innatos del Metabolismo (EIM) son un grupo de condiciones caracterizadas por el acúmulo de sustancias tóxicas producido habitualmente por un defecto enzimático. Su relevancia dentro del grupo de las Enfermedades Raras, es que son consideradas hoy un conjunto de patologías tratables, ya que han sido particularmente beneficiadas por leyes de drogas huérfanas, permitiendo el acceso a terapias seguras y eficaces en tratar sus síntomas y la causa que las produce. Su diagnóstico se debe sospechar clínicamente ante ciertos patrones de síntomas y signos, y con un laboratorio sencillo disponible en todos los hospitales y clínicas de Chile, se puede acceder fácilmente a una aproximación inicial, confirmada por estudios realizados en centros de referencia. Su tratamiento debe ser instaurado oportunamente para evitar el desarrollo de secuelas irreparables. La existencia de Programas de Pesquisa Neonatal es la aproximación diagnóstica ideal para llegar precozmente al diagnóstico de estas condiciones.

Inborn Errors of Metabolism are a group of conditions characterized by the accumulation of toxic substances commonly produced by an enzymatic defect. Its relevance within the group of rare diseases is that they are considered today a set of treatable pathologies, as they have been particularly benefit from orphan drug laws, allowing access to safe and effective therapies to treat their symptoms. Its diagnosis should be suspected clinically to certain patterns of symptoms and signs, and with a simple laboratory available in all Hospitals and Clinics Chile can easily earn an initial approximation, to be confirmed by studies in reference centers. The treatment should be started promptly to prevent the development of irreversible sequelae. The existence of Newborn Screening Programs is ideal for reaching early diagnosis and treatment of these conditions.

Ética de la equidad y justicia en el acceso al diagnóstico, tratamiento y rehabilitación de los pacientes con enfermedades raras / Ethics of equity and justice in access to diagnosis, treatment and rehabilitation of patients with rare diseases

Las enfermedades raras se definen por su reducida frecuencia en la población, lo que supone numerosas consecuencias adversas, tanto a nivel médico como social. Estas patologías, al ser poco conocidas, tienen un diagnóstico tardío y no cuentan con tratamientos específicos para muchas de ellas. Se caracterizan por ser enfermedades crónicas, degenerativas, invalidantes con calidad de vida disminuida, pérdida de autonomía, alto nivel de dolor y sufrimiento de la persona y su familia, y generalmente ponen en riesgo la vida. Aquellas que tienen un tratamiento específico son de tan alto costo que no pueden ser financiadas por el paciente sin el aporte estatal. Esta situación implica desde el punto de vista ético la necesidad de considerar el principio de Beneficencia y de Justicia Social en las decisiones que se adopten.

Rare diseases are defined by the reduced frequency in the population, leading to numerous adverse consequences, both at medical and social level. These pathologies, being little known, the diagnose is late or non-existent and there are no specific treatments for many of them. They are characterized by debilitating, degenerative, chronic diseases with decreased quality of life, loss of autonomy, high level of pain and suffering of the person and his family, and usually life threatening. Those with specific treatment are so costly that they can not be financed by the patient without the state contribution. This situation results from the ethical point of view the need to consider the principle of Beneficence and Social Justice in the decisions taken.

Evaluación del seguimiento de 29 niños chilenos con la enfermedad de la orina olor a jarabe de arce clásica / Follow up evaluation of 29 chilean children with classical maple syrup urine disease

Introduction: Maple Syrup Urine Disease (MSUD) is caused by a defect of the ketoacid dehydrogenase enzyme complex of the branched amino acids Valine, Isoleucine and Leucine (VIL). The treatment consists of a leucine-restricted diet. Objective: To evaluate the long-term follow-up in children with MSUD. Methodology: 29 records were reviewed of patients with MSUD, of which 24 were clinically identified (> 5th day of life), 4 cases by MSUD family history and one by neonatal screening (< 5th day of life). Leucine (Leu) levels were measured at diagnosis (Biotronic 2000) and during follow-up (mass spectrometry). The number of decompensation events, Total Intellectual Quotient (TIQ, Bayley and Wechsler scale) and nutritional status were also measured. STATA statistical software version 9.2 was applied (p≤0.05). Results: Mean age at diagnosis was 14 days old. In all cases the diagnosis was confirmed by elevated levels of Leu and alloisoleucin. When comparing the TIQ of 19 cases over 3 years old with their age at diagnosis, it was observed that those cases screened by the 5th day of life had a TIQ 84.6 ± 13, while those diagnosed later had a TIQ 73 ± 17 (p≤0.05). In assessing the number of hospitalizations that occurred during follow-up, we determined that the 5 cases screened early never had a metabolic crisis and had a higher TIQ than those who had had one or more decompensation (92 and 74, respectively, p≤0.05). An inverse correlation was observed between the Leu+Isoleucine value and TIQ. Conclusion: The diagnosis before the 5th day of life and a good metabolic control during follow-up, enables children with MSUD to have normal cognitive development.

La enfermedad de la orina olor a jarabe de arce (EOJA) se produce por un defecto del complejo enzimático deshidrogenasa de los cetoácidos de los aminoácidos ramificados: Valina, Isoleucina, Leucina (VIL). El tratamiento es una dieta restringida en leucina (Leu). Objetivo: evaluar el seguimiento a largo plazo en niños con EOJA. Metodología: Se revisaron 29 fichas de pacientes EOJA, 24 fueron pesquisados por clínica (> 5to día de vida) y 4 casos por antecedentes familiares con EOJA y 1 por pesquisa neonatal (< 5to día de vida). Se midió nivel de Leu al diagnóstico (Biotronic 2000) y durante el seguimiento (Espectrometría de masa), número de descompensaciones, Coeficiente Intelectual Total (CIT) (Escalas de Bayley y Wechsler) y estado nutricional. Se aplicó programa estadístico STATA versión 9.2 (p≤0.05). Resultados: La edad de diagnóstico fue a los 14 días de edad. En todos se confirmó el diagnóstico por los niveles elevados de Leu y presencia de alloisoleucina. Al comparar el CIT de los 19 casos mayores de 3 años con la edad de diagnóstico, se observó que aquellos casos pesquisados antes del 5to día tenían un CIT de 84,6±13, a diferencia de los diagnosticados posteriormente que tenían un CIT=73±17 (p≤0.05). Al evaluar el número de descompensaciones ocurridas durante el seguimiento, se determinó que los 5 casos nunca habían tenido una crisis metabólica, tuvieron un CI mayor que aquellos que habían tenido una o más descompensaciones (92 y 74 respectivamente) (p≤0.05). Cuando se correlacionó el valor de Leu+Iso de seguimiento con el CIT, se observó una correlación inversamente proporcional. Conclusión: el diagnóstico antes de los 5to día de vida y un buen control metabólico durante el seguimiento, permite que los niños con EOJA tengan un desarrollo cognitivo normal.

Guía clínica: consenso para Chile en enfermedad de Fabry / Clinical guidelines: Chilean consensus in Fabry disease

Fabry's disease is an X-linked recessive inborn error of metabolism of glycosphingolipids, caused by the deficiency of the lisosomal enzyme alpha-galactosidase. It is a rare disease with an estimated incidence rate of approximately 1:80.000 to 1:117,000 births in the general population. Recently, the growing knowledge about this disease has permitted the development of enzyme replacement therapy, which has modified the prognosis and quality of life of these patients. In Chile, the real incidence is unknown, but the increase in the number of patients diagnosed during the last five years, mainly in the north of the country. This guide was prepared with the intention of establishing a consensus for the diagnosis, treatment and monitoring of the patients with Fabry disease based on the present available scientific evidence.

La enfermedad de Fabry es un error innato del catabolismo de los glucoesfingolipidos, de herencia recesiva ligada al cromosoma X, causado por la deficiencia de la enzima lisosomal alfa-galactosidasa A (alfa-gal A). Es un defecto poco frecuente, con una incidencia estimada de 1:80.000 a 1:117.000, entre la población general. Recientemente, el creciente conocimiento acerca de esta enfermedad, ha permitido el desarrollo de la terapia de reemplazo enzimático, la cual ha modificado el pronóstico y calidad de vida de los pacientes. En Chile, se desconoce la incidencia real, pero el aumento del número de pacientes diagnosticados durante los últimos cinco años, principalmente en la zona norte del país, ha generado un mayor interés por esta enfermedad. Esta guía fue elaborada con la intención de establecer un consenso para el diagnóstico, tratamiento y seguimiento de los pacientes con enfermedad de Fabry, basado en la evidencia científica, actualmente disponible.

[Mandibular distraction osteogenesis in patients with craniofacial malformation]. / Distracción mandibular osteogénica en pacientes con malformaciones craneofaciales.

Craniofacial malformations (Pierre-Robin sequence, Treacher-Collins syndrome, Nager syndrome, etc.) are frequently associated to severe mandibular hypoplasia, which can cause upper airway obstruction by retroposition of the base of the tongue in the posterior pharyngeal space. Most of the patients respond to postural treatment. In prone decubitus position, it may be necessary to monitor oxygen saturation, insert a nasopharyngeal tube and even an endotracheal one. In more severe cases with prolonged and frequent pauses of apnea, tracheostomy may be necessary, but it is associated with high morbidity and sometimes mortality. In the last two years, in the Multidisciplinary Cleft Lip and Palate Unit of the Hospital Virgen de las Nieves, 4 children with severe obstructive apnea secondary to severe mandibular hypoplasia have been treated with mandibular distraction osteogenesis, this procedure being effective in the resolution of the condition. It has avoided tracheostomy, it has lengthened the jaw in a period of 2-3 weeks. During this time, the obstructive respiratory problems and also swallowing problems have disappeared. The esthetic results were excellent and the complications, for the moment, minimum.

Sistema de vigilancia epidemiológica comunitaria bonis: estado actualy proyecciones futuras / Community epidemiological surveillance system bonis: current status and future projections

El sistema actual de vigilancia epidemiológica en la zona del Centro de Ayuda Mutua y Salud para Todos (CAMSAT) del Bañado Sur, de Asunción, se basa en la búsqueda rutinaria de posibles casos febriles mediante visitas domiciliarias, realizadas por las agentes comunitarias adscritas a la Unidad de Salud Familiar (USF). Cada una de las diezagentes comunitarias de CAMSAT tiene asignada 150 hogares, y los resultados de susvisitas domiciliarias quedan recogidos en planillas que se reportan mediante medios tradicionales (papel, correo interno, fax, etc.) a la DGVS del Ministerio de Salud. La consecuencia de este modo de trabajo es que muchas veces las acciones de bloqueo de la transmisión llegan tarde con el coste social y económico que ello significa. El sistema Bonis introduce la telefonía móvil como elemento catalizador para transformar la búsqueda rutinaria de posibles casos febriles en una acción proactiva, y también la utilización de tecnologías web y bases de datos para el registro de pacientes y su correspondiente seguimiento por el personal sanitario. La utilización de estas tecnologíasde la información y comunicación (TICs) transforman el sistema de vigilancia epidemiológica en un caso de estudio de e-Salud en Paraguay. Se describe el estado actual y proyecciones futuras del sistema de vigilancia epidemiológica comunitaria “Bonis”,que utiliza las TICs para prevenir, alertar, supervisar y controlar la expansión de síndromes febriles en un área de influencia del Hospital Barrio Obrero (HBO), en la Unidad de Atención Primaria en Salud del Centro de Ayuda Mutua y Salud para Todos, Asunción,Paraguay.

The current system of epidemiologic surveillance in the area of Mutual Aid Centre and Health for All (CAMSAT in Spanish) in the “Bañado Sur” in Asuncion is based on routine screening of possible febrile cases through home visits made by community agents fromthe Primary Health Care Unit (USF in Spanish). Each of the ten community agents are assigned to 150 households and the results of these home visits are recorded on sheets that are reported through traditional means (paper, internal mail, fax, etc.) to the DGVSof the Ministry of Health. The consequence of this working system is that often the blocking actions arrive late with the social and economic costs that this implies. The Bonis system uses the mobile phone as a catalyst to transform the routine screening ofpotential feverish cases in a proactive action and the web technology and databases for patient records and appropriate follow-up by health personnel. The use of theseinformation and communication technologies of (ICTs) transforms the Epidemiological Surveillance System in a study case of e-Health in Paraguay. This document describes the current status and future projections of the community epidemiological surveillancesystem Bonis which uses Information and Communication Technologies (ICTs) to prevent, warn, monitor and control the spread of febrile syndromes in a catchment area of Barrio Obrero Hospital (HBO), Unit of Primary Health Care Center Mutual Aid and Health for All, Asuncion, Paraguay.

Embarazo como factor de riesgo de hospitalización y muerte en la pandemia por influenza A (H1N1) en Paraguay / Pregnancy as a risk factor for hospitalization and death during influenza A (H1N1) pandemic in Paraguay

La influenza A (H1N1) se ha identificado como la causa de epidemia de Infección Respiratoria Aguda en Paraguay y en el mundo. Se analizaron los factores de riesgo asociados a la morbimortalidad en embarazadas con sospecha de infección por H1N1 notificadas a la Dirección General de Vigilancia de la Salud (DGVS) del MSPBS durante los primeros cuatro meses de la pandemia, en comparación con mujeres en edad fértil no embarazadas con sospecha de infección por H1N1. A partir del 28 de abril de 2009, la DGVS comenzó sistemáticamente la vigilancia de H1N1 en todas sus unidades notificadoras, siendo la notificación inmediata y por planilla individual basándose la notificación en la definición de casos confirmado establecidas por el país. Hasta el 25 de agosto del 2009 fueron notificadas 2268 mujeres con sospecha de H1N1, de las cuales 1120 tenían entre 15 a 40 años, y de ellas 117 estaban embarazadas. El 68% (79/117)de las embarazadas requirió hospitalización y la mortalidad fue de 21% (25/117), mientras que en grupo de las no embarazadas el 21% se hospitalizó (288 /1003) y la mortalidad fue de 1,5% (16/1003). Todos los casos fallecidos desarrollaron Infección Respiratoria Aguda Grave caracterizado por un síndrome de distrés respiratorio que en algunos casos requirieron asistencia respiratoria mecánica (ARM). Ninguna de las embarazadas refirió antecedente de co-morbilidad. El 22% (26/117) de las embarazadas y 2,9% (30/1003) de las no embarazadas recibieron Oseltamivir como tratamiento. Se evidencian que la infección produce alta morbimortalidad en embarazadas en comparación con mujeres del mismo grupo de edad, los cuales apoyan la recomendación de un tratamiento antiviral precoz en gestantes, así como un seguimiento clínico cercano.

Influenza A (H1N1) has been identified as the cause of the Acute Respiratory Infection epidemic in Paraguay and the world. Risk factors associated to morbid-mortality in cases of pregnant women with suspicion of H1N1 infection and notified to the General Direction of Health Surveillance (DGVS in Spanish) of the Ministry of Public Health and Social Welfare (MSPBS in Spanish) during the fourth first months of the pandemic were analyzed in comparison to non-pregnant fertile women with suspicion of H1N1 infection. From April28, 2009 the DGVS started a systematic surveillance of H1N1 in all its notifying units, being the notification immediate and by individual spreadsheet basing the notification inthe case definition established by the country. Until August 25, 2009 2,268 cases of women with suspicion of H1N1 were notified, 1,120 of them were between 15 to 40 years and from them 117 were pregnant. Sixty eight percent (79/117) of the pregnant women required hospitalization and mortality was 21% (25/117) while in the non-pregnant women, 21% were hospitalized (288 /1003) and mortality was 1.5% (16/1003). All deceased cases developed Serious Acute Respiratory Infection characterized by a respiratory distress syndrome that, in some cases, required mechanical respiratory assistance (MRA). None of the regnant women referred history of co-morbidity. Twenty two percent (26/117) of the pregnant women and 2.9% (30/1003) of the non-pregnant women received Oseltamivir as treatment. These results show that the infection produces high morbid-mortality in pregnant women in comparison to women of the same age group, supporting the recommendation of an early antiviral treatment in pregnant women as well as a close clinical follow-up.

Evolución clínica de niños con niveles plasmáticos de fenilalanina entre 2.1 y 6.0 mg/dl en el período neonatal / Clinical evolution of children with phenylalanine plasma levels between 2.1 and 6.0 mg/dl during the neonatal period

Introducción: La Academia Americana de Pediatría (AAP) ha clasificado la Fenilquetonuria (PKU) e Hiperfenilalaninemia (HFA) según la tolerancia de la ingesta de fenilalanina (FA) en: PKU clásica: 20 mg FA/kg/día, PKU moderada: 21 y 25 mg FA/kg/día y PKU leve: 25 y 50 mg FA/kg/día, e HFA benigna con dieta normal, manteniendo un nivel plasmático de FA entre 2,0 y 10,0 mg/dl. Objetivo: Evaluar la evolución clínica de 67 niños con valores de FA plasmática entre 2.1 y 6.0 mg/dL en el período neonatal. Resultados: Del total, 29 niños tenía entre 0 y 2 años, 23 entre 2 y 4 años y 15 niños eran mayores de 4 años de edad. El estado nutricional de 45 niños era normal, 14 niños estaban con sobrepeso u obesidad, y 8 casos tenían riesgo nutricional. Se determinó que 4 niños tenían una ingesta menor de 20 mg FA/kg/día, dos niños entre 21 y 25 mg FA/kg/día, 15 casos entre los 26 a 50 mg FA/kg/día y 46 niños estaban con dieta normal. Conclusión: Los recién nacidos con niveles de FA entre 2.1 y 6.0 mg/dl durante el período neonatal, tienen una evolución clínica y nutricional diferente, que puede ir desde una PKU clásica a una HFA benigna, por lo cual se recomienda mantener un control frecuente de FA sanguínea y una vigilancia nutricional, con un mínimo de 2 años de seguimiento.

Introduction: The American Academy of Pediatric (AAP) has classified Phenylketonuria (PKU) and Hyperphenylalaninaemias (HPhe) according to tolerance of phenylalanine (Phe) intake in: Classic PKU (20 mg Phe/kg/day), moderate PKU (between 21 and 25 mg Phe/kg/day) and mild PKU (between 25 and 50 mg Phe/kg/day), and benign HPhe with normal diet, maintaining blood Phe levels between 2,0 and 10,0 mg/dL. Objective: To evaluate the clinical evolution of 67 children with blood Phe values between 2,1 and 6.0 mg/dl in the neonatal period. Results: Of the total, 29 children were aged between 0 and 2 years, 23 between 2 and 4 years and 15 children were older than 4 years of age. The nutritional state of 45 children was normal, 14 children were overweight or obese, and 8 were at nutritional risk. Four children had Phe intake below 20 mg/kg/day, two children between 21 and 25 mg/kg/day; 15 cases between 26 to 50 mg/kg/day and 46 children were on normal diet. Conclusion: Newborns with blood Phe levels between 2,1 and 6,0 mg/dl in the neonatal period, had a different clinical and nutritional evolution, which could go from the classic PKU to a benign HPhe. Thus, it is recommended to keep a frequent control of plasmatic Phe levels and nutritional monitoring for a minimum of 2 years of follow up.

Síndrome de deficiencia del transportador de glucosa tipo 1 (SDGLUT-1) tratado con dieta cetogénica: Caso clínico / Glucose transponer type 7 deficiency síndrome (GLUT-1 SD) treated with ketogenic diet: Report of one case

The glucose transporter type 1 deficiency syndrome (GLUT-1 SD) (OMIM 606777) is an inborn error of metabolism of brain glucose transport. The characteristic clinical manifestations are seizures, hypotonia, developmental delay, microcephaly and hypoglycorrhachia. We report a girl with normal weight and height at birth. At 6 weeks of age she started with convulsions reaching up to 20 myoclonic seizures a day. She was treated with valproate, phenobarbital and carbamazepine without response. Blood analysis including aminoacids and acylcarnitines were all normal. The brain MRI showed frontal atrophy with an increased subarachnoidal space and Electroencephalography was abnormal. Blood glucose was 84 mg/dl and spinal fluid glucose 26 mg/dl with a ratio of 0.31 (Normal Ratio >0.65+00.1). These results suggested the diagnosis of GLUT-1 SD, and was confirmed with erythrocyte glucose uptake of 44 percent (Normal range 80-100 percent). A molecular study found the mutation 969del, C971T in exon 6 of the gene Glut-1. Treatment with a ketogenic diet was started immediately and after 7 days with this diet seizures ceased. Anticonvulsants were progressively suspended. At present, the patient is 6 years old, she continues on a ketogenic diet and supplements with L-carnitine, lipoic acid, vitamins and minerals. Growth and development are normal with an intelligence quotient of 103. It is concluded that it is necessary to include GLUT-1 SD in the differential diagnosis of children with early seizures that are non responsive to pharmacological treatment.

Solución protésica compleja de dos implantes próximos, con espacio reducido en sector anterior: caso clínico / Complex prosthetic solution next two implants with reduced anterior space: case report

Se presenta la solución clínica, con protesis fija, en un caso de implantes instalados en posición desfavorable y con espacio mesio dental reducido en el sector antero superior con severo compromiso estético

It show a clinical solution with Fixed Prosthetic crown, in an implant case installed in bad position and reduced mesio distal gap in the anterior zone of maxilla, with esthetic compromise.

Evaluación de la respuesta inmunitaria en niños con quemaduras / Evaluation of the immunity response in children with burns

En el paciente quemado se reúnen una serie de factores que favorecen la aparición de un desbalance en su respuesta inmunitaria que incrementan la susceptibilidad de los mismos a las infecciones. Las personas con quemaduras, sobretodo los niños, que presentan una mayor alteración inmunológica son aquellos con peor pronóstico y con mayores posibilidades de presentar complicaciones. El objetivo del presente trabajo es evaluar la utilidad de la respuesta proliferativa con mitogenos de los linfocitos en niños con quemaduras como un marcador pronóstico. Fueron estudiados 11 niños con quemaduras desde enero a marzo del 2004, de ambos sexos, provenientes del área rural, sin complicaciones infecciosas. Como controles se estudiaron 9 niños aparentemente sanos. Todos fueron estudiados luego de obtenerse el consentimiento informado de sus padres. Se utilizó sangre periférica, obtenida en forma estéril con heparina. Las células mononucleares fueron separadas sobre gradiente de Ficoll­Hypaque. Las células mononucleares (2,5 x 106 células/ml) fueron cultivadas en medio RPMI 1640 con 10% de suero fetal bovino (FBS), en triplicado a 37°C y 5% CO2 estimuladas con fitohemaglutinina­M (PHA­M). Como controles se utilizaron células mononucleares no estimuladas con PHA­M. La proliferación celular se midió utilizando un método colorimétrico MTT [3­(4.5 dimethylthiazol­2­yl)­2.5 diphenyl tetrazolium bromide].De nueve niños (82%) fueron masculinos y 2 ((18%) fueron femeninos. La edad media de los niños quemados fue de 4,03 ± 4,19 años y la de los niños controles 3,26 ± 5,62 años. En el grupo estudiado se observó en la proliferación celular una respuesta de los linfocitos disminuida en relación a los controles. (1,16 ± 0,31 versus 2,66 ± 0,37, p<0,01).Esto pone en evidencia una disminución significativa de la inmunidad celular en los niños, secundaria a las quemaduras. La elevada incidencia de las quemaduras en la edad pediátrica, su gravedad, la complejidad del mecanismo fisiopatológico y la enorme mortalidad que conllevan hace que sea importante la evaluación de la inmunosupresión en el niño quemado y de esta manera contribuir a la búsqueda de nuevas y mejores opciones para estos lesionados.

Burnt patients have several factors favoring the appearance of an imbalance in their immune response, increasing their susceptibility to infections. People with burns, especially children, presenting greater immunological alterations are those with worse prognosis and more possibilities of having complications. The aim of the present work is to evaluate the proliferative response of the lymphocytes in children with burns as a prognosis marker. Eleven boys and girls with burns were studied from January to March, 2004. They were from rural areas and did not have infectious complications. Nine apparently healthy children were included as controls. The children were included in the study with previous consent of their parents. Peripheral blood obtained in sterile form with heparin was used. The mononuclear cells were separated on Ficoll­Hypaque gradient and the cells (2,5 x 106cell/ml) were cultivated in RPMI 1640 with 10% of fetal bovine serum (FBS), in triplicate at 37°C y 5% CO2 stimulated with phytohemaglutinin­M (PHA­M). Non­stimulated mononuclear were used as control. The cellular proliferation was measured using a colorimetric method with MTT [3­(4.5 dimethylthiazol­2­yl)­2.5 diphenyl tetrazolium bromide]. Nine (82%) were male and 2(18%) were female. The mean age of the burnt children was of 4,03±4,19 years and that of the children control was 3,26±5,62 years. In the studied group, the cellular proliferation showed a decreased response of the lymphocytes in relation to the controls. (1,16±0,31 versus 2,66±0,37, p<0,01). This shows a significant decrease of the cellular immunity in these children, secondary to the burns. The high incidence of burns in paediatric age, seriousness of the lesions, complexity of the physiopathological mechanism and enormous mortality they have make very important the evaluation of the immunosuppression in the burnt child and hereby to contribute to the search of new and better options for these patients.

Histoplasmosis pulmonar / Pulmonary histoplasmosis

Histoplasma capsulatum es un hongo dismórfico de distribución geográfica, que reside en la tierra. Su presencia se favorece en la deposición de pájaros y murciélagos. La infección en humanos es por inhalación de un alto inóculo de esporas. Se presenta el curso clínico de un paciente de 43 años, inmunocompetente, geólogo, quien adquirió la infección al recorrer minas subterráneas en Centroamérica y Perú. El 90 por ciento de las infecciones por Histoplasma spp son asintomáticas, el resto cursa con infección pulmonar o diseminada, aguda o crónica. Su diagnóstico se basa en tests de reacción cutánea, detección de antígenos en sangre u orina, visión directa del agente en muestras clínicas y cultivo. Estos pacientes deben ser tratados con itraconazol o anfotericina B, de acuerdo a la gravedad clínica

[Technology for the whole utilization of brewer's yeast in food industry]. / Tecnología para la utilización integral de la levadura de cerveza en la industria alimenticia.

A flexible scheme for the fractionation of brewer's yeast was developed. The procedure allows the production of different products such as: dry yeast flakes, dry yeast pills, yeast-extract based table sauce, yeast protein concentrates and soy-like sauce. The investment required for the processing of one ton per day is below 2 million dollars with an overall profitability higher than 53%. Investment is recovered in 0.75 years. The production of food ingredients from yeast upgrades its biomass about 25 fold. Present procedure is compared with other biomass fractionation processes taking into account the utilization of all technological streams where the process becomes environmentally friendly since effluent production significantly lower than similar technologies.

[Early erythropoietin use for the prevention of anemia in infant premature]. / Uso precoz de la eritropoyetina en la prevención de la anemia del prematuro.

BACKGROUND: Anemia is common among very low birth weight newborns and requires frequent blood transfusions. Erythropoietin was been reported to be useful in the prevention of this anemia. AIM: To assess the benefits of early (before the third week of life) Human recombinant Erythropoietin (r-EPO) administration to reduce the requirement of blood transfusions in very low birth weight newborns. PATIENTS AND METHODS: Sixty newborns under 1500 g of birthweight were randomly assigned to receive r-EPO (n = 29) or placebo (n = 31) three times per week, during four weeks. Packed red cell volume and reticulocyte counts were measured weekly. Serum erythropoietin was measured prior to eighth dose. Transfusion requirements were recorded. RESULTS: r-EPO reduced transfusions from 1.41 +/- 1.1 to 0.69 +/- 1 transfusions/newborns (p < 0.001). At the fourth week of treatment, reticulocyte count was 14.8 +/- 7 and 6.4 +/- 4.9% in the active treatment group and placebo group respectively (p < 0.001). CONCLUSIONS: r-EPO reduces the requirement of transfusions in low birth weight infants.