Relación del consumo de calcio con el síndrome metabólico en adultos de la Amazonía Ecuatoriana / Relationship of calcium consumption with metabolic syndrome in adults from the Ecuadorian Amazon

Introducción. El Síndrome Metabólico (SM) comprende un conjunto de factores de riesgo cardiometabólico representado por obesidad central, dislipidemia, hipertensión arterial y glucosa alterada, se ha evidenciado que el consumo adecuado de calcio representa una disminución del riesgo para este síndrome. Objetivo. Analizar la relación entre el consumo de calcio total, de origen animal y vegetal con el SM y sus indicadores. Materiales y métodos. Estudio transversal de eje correlacional, con una muestra de 100 adultos de la región amazónica ecuatoriana, durante el último trimestre del 2020. La ingesta dietética de calcio se determinó mediante un recordatorio de 24 horas y el SM según los criterios de Adult Treatment Panel-IV (ATP-IV). Resultados. La población estuvo conformada por adultos maduros (40 a 60 años) que evidenciaron una ingesta de calcio deficiente (182,50 mg y 228,60 mg en mujeres y hombres respectivamente). Se evidenció, además, una relación directamente proporcional entre la circunferencia abdominal (r=0,391 ­ p=0,000), presión arterial sistólica (r=0,290 ­ p=0,000) y glucosa en ayuno (r=0,326 ­ p=0,000) con la edad. La ingesta de calcio total se relacionó positivamente con los triglicéridos, (r=0,221 ­ p=0,027). Conclusiones. La ingesta dietética de calcio en ambos sexos no alcanza el requerimiento diario y se relaciona positivamente con los triglicéridos(AU)

Introduction. The Metabolic Syndrome (MS) comprises a set of cardiometabolic risk factors represented by central obesity, dyslipidemia, high blood pressure and altered glucose, it has been shown that adequate calcium intake represents a decreased risk for this syndrome. Objective. To analyze the relationship between the consumption of total calcium, animal and vegetable origin, with MS and its indicators. Materials and methods. Cross-sectional study of correlational axis, with a sample of 100 adults from the Ecuadorian Amazon region, during the last quarter of 2020. Dietary calcium intake was determined through a 24-hour recall and the diagnosis of MS according to the Adult Treatment Panel- IV (ATP-IV) criteria. Results. The population consisted of mature adults (40 to 60 years) who showed a deficient calcium intake in both sexes (182.50 mg and 228.60 mg in women and men respectively). There is also evidence of a directly proportional relationship between abdominal circumference (r=0.391 - p=0.000), systolic blood pressure (r=0.290 - p=0.000) and fasting glucose (r=0.326 - p=0.000) with age. Total calcium intake was positively related to triglycerides (r=0.221 ­ p=0.027). Conclusions. Calcium dietary intake in both sexes does not reach the daily requirement and is positively related to triglycerides(AU)

Estrategias nutricionales implementadas en los paisesandinos. Una mirada a la nutrición escolar en Ecuador, Perú y Bolivia / Nutritional strategies implemented in Andean countries. A look at schoolnutrition in Ecuador, Peru and Bolivia

Introducción: La nutrición es sumamente importantepara el normal desarrollo de los seres humanos, por lo tanto,es importante conocer el proceso que se ha llevado a cabopara mejorar los procesos de alimentación escolar en AméricaLatina, tomando como referencia a los países andinos. Se manifiesta que en América Latina el Programa de Alimentación Escolar (PAE) es de gran envergadura por losobjetivos, la cobertura y los recursos que asigna el Estadopara su operación, haciendo de este uno de los programas sociales de mayor importancia en la región. La presente investigación cumple con los siguientes objetivos: Descripción sobre estrategias nutricionales que han mejorado los índices de nutrición escolar en Ecuador, Boliviay Perú. Identificación de los alimentos que no contribuyen a unanutrición adecuada para los niños. Material y métodos: Se realizó una búsqueda bibliográfica en bases de datos de la Organización de Naciones Unidas(ONU), Organización de las Naciones Unidas para la Agri cultura y la Alimentación (FAO) y Ministerios de Educación de lospaíses sudamericanos. Para complementar la investigacióntambién se buscaron artículos en Association for Computing Machinery (ACM) y Scopus, empleando los términos: estrategias nutricionales, nutrición infantil, escolares en Sudamérica,malnutrición, PAE. En la presente investigación se aplica la descripción histórica y comparativa de ciertos proyectos de nutrición escolarque han sido ejecutados desde el 2008 hasta 2018 en los países andinos. Resultados: Los países sudamericanos, especialmente losandinos han reformado sus procesos de alimentación escolar,mejorando así también aspectos sociales como la economía y la educación, basados en estrategias de equidad que promueven la incorporación y estabilidad de los estudiantes alsector académico.(AU)

Introduction: Nutrition is extremely important for thenormal development of human beings, therefore, it is important to know the process that has been carried out to improveschool feeding processes in Latin America, taking the Andeancountries as a reference.It is clear that in Latin America the School Feeding Program(PAE) is of great importance due to its objectives, coverageand the resources allocated by the State for its operation,making it one of the most important social programs in theregion. This research has the following objectives: Description on nutritional strategies that have improvedschool nutrition indices in Ecuador, Bolivia and Peru. Identification of foods that do not contribute to adequatenutrition for children. Material and methods: A bibliographic search was carried out in databases of the United Nations (UN), Food andAgriculture Organization of the United Nations (FAO) andMinistries of Education of South American countries. To complement the research, articles were also searched in theAssociation for Computing Machinery (ACM) and Scopus, using the terms: nutritional strategies, child nutrition, schoolchildren in South America, malnutrition, PAE.The present research applies the historical and comparativedescription of certain school nutrition projects that have beenimplemented from 2008 to 2018 in the Andean countries. Results: South American countries, especially the Andeancountries have reformed their school nutrition processes, thusalso improving social aspects such as economy and education, based on equity strategies that promote the incorporation and stability of students to the academic sector. Discussion / conclusions: The PAE, work under thecomprehensive protection approach, contributing mainly tothe guarantee of two fundamental rights: education and foodfor children and adolescents enrolled in the public education system.(AU)

Anemia, estado nutricional y parasitosis intestinales en niños de hogares de Guayas / Anemia, nutritional status and intestinal parasites in children from homes in Guayas

Las parasitosis intestinales afectan principalmente a países subdesarrollados, donde se presentan condiciones socioeconómicas y geográficas propicias para desarrollarse, con mayor prevalencia en la población infantil. Dichas infecciones se han asociado a desnutrición y anemia, consideradas las alteraciones nutricionales más graves a nivel global. Se realizó un estudio descriptivo en 87 niños de la provincia de Guayas, Ecuador, con edades entre 24 y 59 meses, para determinar anemia, evaluar el estado nutricional y parasitosis intestinal. Se determinaron parámetros antropométricos, valores de hemoglobina y hematocrito, y se identificó las especies parasitarias. Se obtuvo mayor proporción de infantes eutróficos para talla e IMC según el género y grupo etáreo; los niños presentaron mayor prevalencia de sobrepeso, obesidad, retardo en la talla y delgadez, respecto las niñas; además el grupo etáreo entre 4 -5 años presentó mayor retardo en crecimiento y delgadez. Asimismo, 24,14% de niños presentaron anemia y los individuos parasitados significativamente presentaron anemia, mayor retardo en la talla y delgadez, frente a los no parasitados; siendo los protozoarios Entamoeba histolytica, Entamoeba coli y Giardia intestinalis los más frecuentes, mientras que, Enterobius vermicularis y Ascaris lumbricoides fueron los helmintos predominantes. El presente estudio evidencia deficiencias nutricionales asociadas a anemia e infección por parásitos intestinales en niños menores de 5 años de la provincia de Guayas; cuya población requiere adecuados servicios de salud y saneamiento, acceso a los alimentos, apropiadas prácticas de higiene y educación sanitaria, que contribuyan a aminorar los efectos de estas patologías y sus complicaciones(AU)

Intestinal parasites mainly affect underdeveloped countries, where socioeconomic and geographical conditions are conducive to development, with a higher prevalence in the child population. These infections have been associated with malnutrition and anemia, considered the most serious nutritional disorders globally. A descriptive study was carried out in 87 children from the province of Guayas, Ecuador, aged between 24 and 59 months, to determine anemia, evaluate nutritional status and intestinal parasitosis. A higher proportion of eutrophic infants was obtained for height and BMI according to gender and age group; boys had a higher prevalence of overweight, obesity, delayed height and thinness, compared to girls; In addition, the age group between 4 -5 years presented greater retardation in growth and thinness. Likewise, 24.14% of children presented anemia and significantly parasitized individuals presented anemia, greater delay in height and thinness, compared to those without parasitization; being the protozoa Entamoeba histolytica, Entamoeba coli and Giardia intestinalis the most frequent, while Enterobius vermicularis and Ascaris lumbricoides were the predominant helminths. The present study shows nutritional deficiencies associated with anemia and infection by intestinal parasites in children under 5 years of age in the province of Guayas; whose population requires adequate health and sanitation services, access to food, appropriate hygiene practices and health education, which contribute to lessen the effects of these pathologies and their complications(AU)

Influence of Telemedicine on the Number of Visits and HbA1c Determinations in Latin American Children with Type 1 Diabetes.

Objective: To measure the changes in the number of medical visits and the number of hemoglobin A1c (HbA1c) determinations according to telemedicine access in children with type 1 diabetes (T1DM) during the pandemic 2020 compared with 2019 and 2018. Methods: This is a multinational study of children with T1DM from four Latin American countries. The number of medical visits, the number of HbA1c determinations, and access to telemedicine during 2020 were extracted from their records. Results: Two hundred twenty-seven children (59% females) aged 12.7 ± 3.2 years with a duration of 5.4 ± 2.7 years of T1DM in 2018 were evaluated. There was a higher prevalence of children with telemedicine access in the pandemic 2020 versus those without [145 (63.9%) vs. 82 (36.1%); P < 0.01]. There was a higher number of medical visits during 2020 in children with telemedicine access versus those without (6.9 vs. 2.6; P < 0.01). Children with telemedicine access had a higher number of visits in 2020 versus 2018 (6.87 vs. 5.04, P < 0.01), but similar to 2019. Children without access had a lower number of visits in 2020 versus 2019 (2.6 vs. 5.5; P < 0.01) and versus 2018 (2.6 vs. 5.1; P < 0.01). In 2020, the number of HbA1c determinations in children with telemedicine access was higher versus those without (1.8 vs. 0.9; P < 0.01). Children with telemedicine access had a lower number of HbA1c determinations in 2020 versus 2019 (1.8 vs. 2.4; P < 0.01), but similar to 2018. Furthermore, children without access had a lower number of HbA1c determinations in 2020 versus 2019 (0.9 vs. 1.9; P < 0.01) and versus 2018 (0.9 vs. 2.0; P < 0.01). Conclusions: We found that children with T1DM with telemedicine access had a significantly higher number of medical visits and HbA1c determinations during lockdown than those without access in different Latin American centers.

Efecto de la suplementación con vitamina D en dosis única sobre el estado nutricional de vitamina D / Effect of vitamin D supplementation as a single dose on the nutritional status of vitamin D

INTRODUCCIÓN: El primer año de vida es un periodo de riesgo de deficiencia de vitamina D (VD). La administración de 400 UI diarias de VD no tiene una adherencia del 100%, en cambio dosis únicas de 100.000 UI de VD oral son seguras en recién nacidos. OBJETIVO: Comparar el efecto de la suplementación oral de VD en dosis única de 100.000 UI al mes de edad vs dosis diarias de 400 UI sobre las concentraciones séricas de VD, a los 6 meses de vida. SUJETOS Y MÉTODOS: Ensayo clínico aleatorizado, sin enmascaramiento. Se incluyeron 84 lactantes sanos de 1 mes de vida, asignados al azar al grupo de estudio (GE) que recibió una dosis única de VD de 100.000 UI oral o al grupo control (GC), que recibió dosis diarias de VD de 400 UI oral del 1er al 6to mes de vida. A los 6 meses de edad se determinó la concentración sérica de VD. RESULTADOS: 65 lactantes terminaron el estudio, 36 en GE y 29 en GC. No se encontró deficiencia de VD. La insuficiencia de VD fue de 5,5% y 6,8% en el GE y GC, respectivamente. La concentración sérica de VD a los 6 meses de vida, fue de 38,8 ± 5,2 ng/ml y 39,7 ± 6,3 ng/ml para GE y GC, respectivamente (NS). CONCLUSIONES: La suplementación con 100.000 UI de VD única al mes de edad logra concentraciones séricas de VD a los 6 meses de vida, similares a dosis diarias de 400 UI de VD, del 1er al 6to mes.

INTRODUCTION: Infants are a group at risk of vitamin D (VD) deficiency. The administration of 400 IU of VD per day during the first year of life does not achieve 100% adherence. A single dose of 100,000 IU of oral VD is safe in newborns. OBJECTIVE: To compare the effect of oral administration of VD between a single dose of 100,000 IU at one month of age vs daily doses of 400 IU on serum concentrations of VD, at 6 months of age. SUBJECTS AND METHOD: Randomized clinical trial, without masking. 84 healthy infants were included at 1 month of age, randomized to the study group (SG) receiving a single oral dose of 100,000 IU or to the control group (CG), who received daily oral doses of VD of 400 IU from the 1st to the 6th month of life. At 6 months of life, the serum concentration of VD was determined. RESULTS: 65 infants completed the study, 36 in SG and 29 in CG. No VD deficiency was found. VD insufficient was 5.5% and 6.8% in the SG and CG, respectively. The serum concentration of VD at six months of age was 38.8 ± 5.2 ng/ml and 39.7 ± 6.3 ng/ml for the SG and CG, respectively (NS). CONCLUSIONS: Supplementation of 100,000 IU of VD at one month age achieves serum concentrations of VD at 6 months of life similar to the administration of daily doses of 400 IU of VD from the 1st to the 6th month.

Effect of vitamin D supplementation as a single dose on the nutritional status of vitamin D. / Efecto de la suplementación con vitamina D en dosis única sobre el estado nutricional de vitamina D.

INTRODUCTION: Infants are a group at risk of vitamin D (VD) deficiency. The administration of 400 IU of VD per day during the first year of life does not achieve 100% adherence. A single dose of 100,000 IU of oral VD is safe in newborns. OBJECTIVE: To compare the effect of oral administration of VD between a single dose of 100,000 IU at one month of age vs daily doses of 400 IU on serum concentrations of VD, at 6 months of age. SUBJECTS AND METHOD: Randomized clinical trial, without masking. 84 healthy infants were included at 1 month of age, randomized to the study group (SG) receiving a single oral dose of 100,000 IU or to the control group (CG), who received daily oral doses of VD of 400 IU from the 1st to the 6th month of life. At 6 months of life, the serum concentration of VD was determined. RESULTS: 65 infants completed the study, 36 in SG and 29 in CG. No VD deficiency was found. VD insufficient was 5.5% and 6.8% in the SG and CG, respectively. The serum concentration of VD at six months of age was 38.8 ± 5.2 ng/ml and 39.7 ± 6.3 ng/ml for the SG and CG, respectively (NS). CONCLUSIONS: Supplementation of 100,000 IU of VD at one month age achieves serum concentrations of VD at 6 months of life similar to the administration of daily doses of 400 IU of VD from the 1st to the 6th month.

Transición de la complexión ósea y el estado nutricional en escolares de Portoviejo, Ecuador / Transition of bone complexion and nutritional status in schoolchildren from Portoviejo, Ecuador

INTRODUCCIÓN: Del litoral ecuatoriano hay reportes de condición nutricional alterada en niños y motiva al pesquisaje nutricional. OBJETIVO: Evaluar la transición de la complexión ósea y estado nutricional en escolares de Portoviejo, Ecuador. MÉTODOS: Diagnóstico nutricional a 1258 escolares de cinco a nueve años en unidades educativas de Portoviejo. Se realiza medición de peso, talla y circunferencia de la muñeca, para determinar índice de complexión corporal y de masa corporal, además de índices de crecimiento segregados por sexo. El análisis estadístico se realiza con software IBM SPSS versión 23.0. RESULTADOS: La media de talla es 1,24(0,11) m, peso 28,11(10,34) kg y la circunferencia de la muñeca 11,88(2,09) cm. Las féminas (1,19(0,12) m) tienen altura inferior a varones (1,21(0,11) m) hasta ocho años, luego los sobrepasan. Situación similar con el peso. El estado nutricional es normopeso y la complexión que prevalece es grande. DISCUSIÓN: Se muestra incremento progresivo en talla y peso, con disparidad en los rangos 5-7,9 y 8-9 años por efecto sinérgico edad-sexo y de eventos prepuberales. El índice de complexión no incrementa según edad e influye en el de masa corporal por asociación con el contenido de grasa abdominal. CONCLUSIONES: talla y peso tienen un incremento genérico similar hasta que se inician cambios fisiológicos asociados a la pubertad femenina, cuando ellas sobrepasan a sus pares sexuales. Individuos de mayor altura presentan un IMC más elevado. La complexión corporal está influida por cambios puberales con prevalencia de una complexión grande en el crecimiento activo y predisposición al sobrepeso u obesidad, la pequeña a la emaciación

INTRODUCTION: In the Ecuadorian coast there are reports of altered nutritional condition in children and motivates nutritional research. OBJECTIVE: To evaluate the transition of bone complexion and nutritional status in schoolchildren from Portoviejo, Ecuador. METHODS: Nutritional diagnosis of 1258 schoolchildren from five to nine years old in educational units in Portoviejo. Measurement of weight, height and circumference of the wrist is performed to determine body complexion index and body mass, in addition to growth rates segregated by sex. Statistical analysis is performed with IBM SPSS software version 23.0. RESULTS: The mean height is 1.24 (0.11) m, weight 28.11 (10.34) kg and the wrist circumference is 11.88 (2.09) cm. Females (1.19 (0.12) m) have height less than males (1.21 (0.11) m) up to eight years, then they exceed them. Similar situation with weight. Nutritional status is normal and the complexion that prevails is large. DISCUSSION: Progressive increase in height and weight is shown, with disparity in the ranges 5-7.9 and 8-9 years due to synergistic age-sex and prepubertal events. The complexion index does not increase according to age and influences body mass by association with abdominal fat content. CONCLUSIONS: height and weight have a similar generic increase until physiological changes associated with female puberty begin, when they surpass their sexual partners. Higher individuals have a higher BMI. Body complexion is influenced by pubertal changes with prevalence of a large complexion in active growth and predisposition to overweight or obesity, the small to emaciation

Vitamin D deficiency in pediatric clinical practice. / Deficiencia de vitamina D en la práctica clínica pediátrica.

INTRODUCTION: Vitamin D research suggests it has a role in disorders other than bone metabolism. OBJECTIVE: To update the information on vitamin D deficiency (VDD) in pediatric clinical disorders. METHODS: Search in virtual libraries, giving priority to clinical and longitudinal studies and meta-analyses on VDD in the pediatric age group published in the past 20 years. The terms "vitamin D deficiency", "children and adolescents" (both in Spanish and English) were used as search descriptors. RESULTS: In the pediatric population, VDD is associated with different clinical diseases, such as bone alterations, insulin resistance, metabolic syndrome, respiratory tract infections, asthma, and autoimmune diseases. Besides, it is associated with prematurity, obesity, malabsorption, use of anticonvulsant agents, and lifestyle characteristics, such as clothing, extreme latitudes, low consumption, and little sun exposure. CONCLUSIONS: According to the evidence, VDD is highly prevalent in several disorders and diseases in the pediatric age group. The recommendation is to prevent VDD in risk conditions and to maintain 25(OH)D serum levels > 75 nmol/L.

INTRODUCCIÓN: La investigación sobre vitamina D sugiere roles que van más allá del metabolismo óseo. OBJETIVO: Actualizar la información sobre la deficiencia de vitamina D (DVD) en trastornos clínicos pediátricos. MÉTODOS: Búsqueda en bibliotecas virtuales, en la que se priorizaron estudios clínicos, longitudinales y metaanálisis sobre DVD en edades pediátricas publicados en los últimos 20 años. Se utilizaron como descriptores de búsqueda "deficiencia de vitamina D", "niños y adolescentes" y, en inglés, "vitamin D deficiency", "children and adolescents". RESULTADOS: En la población pediátrica, la DVD se asocia a diversas patologías clínicas, como alteraciones óseas, insulinorresistencia, síndrome metabólico, infecciones del tracto respiratorio, asma y enfermedades autoinmunes. Además, se asocia a prematurez, obesidad, mala absorción, medicación anticonvulsivante y a particularidades de vida, como uso de vestimentas, latitudes extremas, bajo consumo y poca exposición solar. CONCLUSIONES: La evidencia sugiere una alta prevalencia de DVD en varios trastornos y enfermedades en edades pediátricas. Se recomienda prevenir la DVD en las condiciones de riesgo, manteniendo concentraciones séricas de 25(OH)D > 75 nmol/L.

Whole-Exome Sequencing Identifies a de novo AHDC1 Mutation in a Colombian Patient with Xia-Gibbs Syndrome.

Xia-Gibbs syndrome is an autosomal dominant multisystem developmental disorder characterized by global developmental delay, hypotonia, obstructive sleep apnea, seizures, retrocerebellar cysts, delayed myelination, micrognathia, and mild dysmorphic features. Using whole-exome sequencing, we identified a de novo AHDC1 frameshift mutation c.2030_2030delG (p.G677Afs*52) in a Colombian patient, which was absent in both parents. Furthermore, we summarized the phenotypes of patients reported in the literature.

Genética clínica comunitaria: exploración de patología genética en Boyacá, Colombia / Clinical community genetics: exploring genetic disorders in Boyacá, Colombia

RESUMEN Objetivo Explorar la presencia de patología genética sindrómica en el Departamento de Boyacá, mediante un acercamiento de medicina genética comunitaria. Materiales y Métodos Un grupo conformado por genetistas, neurólogo pediátrico y genetista bioquímico, llevó a cabo jornadas clínicas en las cuales se evaluaron pacientes con sospecha de enfermedad genética. Se obtuvieron datos demográficos, epidemiológicos y clínicos y se realizó el cálculo de frecuencias de los mismos. En los centros de referencia visitados se realizaron actividades de capacitación al personal médico. Resultados Se encontraron dos agrupamientos genéticos: MPSIII y Síndrome de Ellis Van Creveld, con incidencias mayores a lo reportado en la literatura, además una alta frecuencia de patologías de herencia autosómica recesiva, así como sospecha de síndromes de microdeleción-microduplicación. Conclusiones Se deben establecer mecanismos no convencionales de atención médica para facilitar el acceso a las comunidades a un diagnóstico y tratamiento adecuados en genética. Se espera que el apoyo brindado a los pacientes, familias y personal asistencial de los hospitales a través de las jornadas clínicas y la capacitación, permitan alcanzar este objetivo y a la vez sea un punto de inicio de procesos de prevención primaria y secundaria.(AU)

ABSTRACT Objectives To explore the incidence of syndromic genetic pathologies in Boyacá, Colombia, through a community genetics approach. Materials and Methods A group made up by different medical specialists (geneticists, a pediatric neurologist, and a biochemical geneticist) developed clinical campaigns, in which patients with clinical suspicion of genetic diseases were involved. Demographic, epidemiological and clinical data were collected, and frequency calculations were made based on the collected data. Several training workshops for health personnel were done in each center visited. Results Two genetic clusters were found: mucopolysaccharidosis type III, and Ellis-Van Creveld Syndrome, both of them with higher incidences than those found in the literature. Also, a high frequency of autosomal recessive diseases was found, as well as microdeletion/microduplication syndromes. Conclusions Conventional mechanisms of medical attention must be established, in order to facilitate the access to an appropriate diagnosis and treatment. This work intended to provide support to patients, families and health care services personnel through the workshops and clinical campaigns, and to become a starting point to develop primary and secondary prevention processes.(AU)

[Clinical community genetics: exploring genetic disorders in Boyacá, Colombia]. / Genética clínica comunitaria: exploración de patología genética en Boyacá, Colombia.

OBJECTIVES: To explore the incidence of syndromic genetic pathologies in Boyacá, Colombia, through a community genetics approach. MATERIALS AND METHODS: A group made up by different medical specialists (geneticists, a pediatric neurologist, and a biochemical geneticist) developed clinical campaigns, in which patients with clinical suspicion of genetic diseases were involved. Demographic, epidemiological and clinical data were collected, and frequency calculations were made based on the collected data. Several training workshops for health personnel were done in each center visited. RESULTS: Two genetic clusters were found: mucopolysaccharidosis type III, and Ellis-Van Creveld Syndrome, both of them with higher incidences than those found in the literature. Also, a high frequency of autosomal recessive diseases was found, as well as microdeletion/microduplication syndromes. CONCLUSIONS: Conventional mechanisms of medical attention must be established, in order to facilitate the access to an appropriate diagnosis and treatment. This work intended to provide support to patients, families and health care services personnel through the workshops and clinical campaigns, and to become a starting point to develop primary and secondary prevention processes.

OBJETIVO: Explorar la presencia de patología genética sindrómica en el Departamento de Boyacá, mediante un acercamiento de medicina genética comunitaria. MATERIALES Y MÉTODOS: Un grupo conformado por genetistas, neurólogo pediátrico y genetista bioquímico, llevó a cabo jornadas clínicas en las cuales se evaluaron pacientes con sospecha de enfermedad genética. Se obtuvieron datos demográficos, epidemiológicos y clínicos y se realizó el cálculo de frecuencias de los mismos. En los centros de referencia visitados se realizaron actividades de capacitación al personal médico. RESULTADOS: Se encontraron dos agrupamientos genéticos: MPSIII y Síndrome de Ellis Van Creveld, con incidencias mayores a lo reportado en la literatura, además una alta frecuencia de patologías de herencia autosómica recesiva, así como sospecha de síndromes de microdeleción-microduplicación. CONCLUSIONES: Se deben establecer mecanismos no convencionales de atención médica para facilitar el acceso a las comunidades a un diagnóstico y tratamiento adecuados en genética. Se espera que el apoyo brindado a los pacientes, familias y personal asistencial de los hospitales a través de las jornadas clínicas y la capacitación, permitan alcanzar este objetivo y a la vez sea un punto de inicio de procesos de prevención primaria y secundaria.

Caracterización fenotípica y molecular de una familia colombiana con fenilcetonuria / Phenotypic and molecular characterization of a Colombian family with phenylketonuria

Introducción. La fenilcetonuria es un trastorno metabólico caracterizado por un compromiso neurológico grave y por alteraciones del comportamiento. Su diagnóstico temprano permite establecer un tratamiento efectivo que evita las secuelas y modifica el pronóstico. Objetivo. Caracterizar a una familia con fenilcetonuria en Colombia, a nivel clínico, bioquímico y molecular. Materiales y métodos. Se estudió una población de siete individuos de una familia consanguínea en la que cuatro hijos presentaban signos clínicos sugestivos de fenilcetonuria. Una vez firmado el consentimiento informado, se tomaron muestras de sangre y orina para las pruebas colorimétricas, la cromatografía de capa fina y la cromatografía líquida de alta eficacia. Se extrajo el ADN y se secuenciaron los 13 exones del gen PAH de todos los sujetos estudiados. Se diseñaron iniciadores para cada exón con el programa Primer 3; la secuenciación automática se hizo con el equipo Abiprism 3100 Avant y, el análisis de las secuencias, con el programa SeqScape v2.0. Resultados. Se describieron las características clínicas y moleculares de una familia colombiana con fenilcetonuria en la que se identificó la mutación c.398_401delATCA; se presentó una correlación fenotipo-genotipo con una interesante variabilidad clínica entre los afectados, a pesar de tener la misma mutación. Conclusiones. Es importante el reconocimiento temprano de esta enfermedad para evitar sus secuelas neurológicas y psicológicas, pues los pacientes llegan a edades avanzadas sin diagnóstico ni tratamiento adecuados.

Introduction: Phenylketonuria is a metabolic disorder characterized by severe neurological involvement and behavioral disorder, whose early diagnosis enables an effective treatment to avoid disease sequelae, thus changing the prognosis. Objective: To characterize a family with phenylketonuria in Colombia at clinical, biochemical and molecular levels. Materials and methods: The population consisted of seven individuals of a consanguineous family with four children with suggestive symptoms of phenylketonuria. After signing an informed consent, blood and urine samples were taken for colorimetric tests and high performance liquid and thin layer chromatographies. DNA extraction and sequencing of the 13 exons of the PAH gene were performed in all subjects. We designed primers for each exon with the Primer 3 software using automatic sequencing equipment Abiprism 3100 Avant. Sequences were analyzed using the SeqScape, v2.0, software. Results: We described the clinical and molecular characteristics of a Colombian family with phenylketonuria and confirmed the presence of the mutation c.398_401delATCA. We established a genotype-phenotype correlation, highlighting the interesting clinical variability found among the affected patients despite having the same mutation in all of them. Conclusions: Early recognition of this disease is very important to prevent its neurological and psychological sequelae, given that patients reach old age without diagnosis or proper management.

Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome).

INTRODUCTION: Maroteaux-Lamy syndrome, or mucopolysaccharidosis (MPS) type VI, is an autosomal recessive lysosomal storage disease caused by a deficient activity of the enzyme arylsulfatase B (ARSB), required to degrade dermatan sulfate. The onset and progression of the disease vary, producing a spectrum of clinical presentation. So far, 133 mutations have been reported. The aim of this study is to determine the mutations in the ARSB gene that are responsible for this disease in Colombian patients. RESULTS: Fourteen patients with clinical manifestations and biochemical diagnosis of MPS VI were studied, including two siblings. The 8 exons of the gene were directly sequenced from patients' DNA, and 14 mutations were found. 57% of these mutations had not been previously reported (p.H111P, p.C121R, p.G446S, p.*534W, p.S334I, p.H147P, c.900T > G, and c.1531_1553del) and 43% had been previously reported (p.G144R, p.W322*, p.G302R, p.C447F, p.L128del, and c.1143-1G > C). Of the previously reported mutations, 80% have been associated with severe phenotypes and 20% with intermediate-severe phenotypes. Bioinformatic predictions indicate that the new mutations reported in this paper are also highly deleterious. CONCLUSIONS: Most of the Colombian patients in this study had private mutations.

Chest wall motion analysis in healthy volunteers and adults with cystic fibrosis using a novel Kinect-based motion tracking system.

Respiratory disease is the leading cause of death in the UK. Methods for assessing pulmonary function and chest wall movement are essential for accurate diagnosis, as well as monitoring response to treatment, operative procedures and rehabilitation. Despite this, there is a lack of low-cost devices for rapid assessment. Spirometry is used to measure air flow expired, but cannot infer or directly measure full chest wall motion. This paper presents the development of a low-cost chest wall motion assessment system. The prototype was developed using four Microsoft Kinect sensors to create a 3D time-varying representation of a patient's torso. An evaluation of the system in two phases is also presented. Initially, static volume of a resuscitation mannequin with that of a Nikon laser scanner is performed. This showed the system has slight underprediction of 0.441 %. Next, a dynamic analysis through the comparison of results from the prototype and a spirometer in nine cystic fibrosis patients and thirteen healthy subjects was performed. This showed an agreement with correlation coefficients above 0.8656 in all participants. The system shows promise as a method for assessing respiratory disease in a cost-effective and timely manner. Further work must now be performed to develop the prototype and provide further evaluations.

Chest wall mechanics before and after diaphragm plication.

BACKGROUND: Following diaphragmatic plication for unilateral paralysis, the effect on global chest wall function are unknown. Our hypothesis was that chest wall function would improve in both sides of the chest after plication of the paralysed side. CASE PRESENTATION: Using Optoelectronic Plethysmography, total and regional chest wall volumes were measured in one patient before and after left diaphragmatic plication. Volumes were recorded at quiet breathing. Respiratory capacity improved during quiet breathing when measured before and 6 months after surgery. These improvements occur at the abdominal-rib cage level in both operated and contralateral. Prior to surgery the abdominal rib cage motion was out of phase to the upper rib cage and abdominal compartment in both sides of the chest. Synchrony of all three compartments was restored after plication. CONCLUSION: This physiological study is the first published data in humans to show improvement in chest wall motion both in operated and contralateral side following diaphragmatic plication for unilateral paralysis.

Incidence of nutrition deterioration in nonseriously ill hospitalized children younger than 5 years.

BACKGROUND: The concept of deterioration of nutrition status in inpatient children, also called nutrition deterioration (ND), has gained widespread importance and is described as significant weight loss during hospitalization periods. Our main purpose was to determine the incidence of ND in nonseriously ill children younger than age 5 years admitted as inpatients and explore the presence of associated factors. MATERIALS AND METHODS: This descriptive study analyzed a prospective cohort of hospitalized children. We considered a significant weight loss of >2% or >0.25 SD in body mass index with respect to the admission weight. The correspondence between the 2 methods was assessed. The frequency of some clinical variables and its association with the outcome was explored. RESULTS: The incidence of ND was 28.5% with at least 1 of the 2 methods of detection and was 20% with both definitions. The correlation between both methods was high (κ = 0.79). In children with ND, results were statistically significant in those with 5 or more stools a day, those hospitalized 5 or more days, and patients with lower respiratory tract disease. CONCLUSIONS: The incidence of ND was higher than that reported in the literature in children with nonserious disease. Diarrhea, lower respiratory tract disease, and hospital length of stay seem to be associated with these results. More studies are required to establish associations with those factors for an early detection of children at risk and for early interventions.

Exercise improvement after pectus excavatum repair is not related to chest wall function.

OBJECTIVES: In patients undergoing corrective surgery for pectus excavatum, there is evidence of improvement in cardiopulmonary function. It is unclear how much of this improvement is attributable to improved chest wall function. Thus, we observed changes in chest wall function in response to an incremental load exercise pre- and postoperatively. METHODS: Using optoelectronic plethysmography, total and regional chest wall volumes were measured in 7 male patients with severe pectus excavatum who underwent a Nuss correction. Rib cage and abdominal volumes were recorded at rest and during exercise (incremental cycle ergometry), pre- and postoperatively in conjunction with spirometry. RESULTS: Tidal volume increases during exercise are blunted compared with baseline measurements at 6 days (-36 ± 7%) partially recovering at 6 months postoperatively (-18 ± 22%). This is mirrored by changes in spirometry. Tidal volume decreased during exercise initially in all compartments, but persisted in the rib cage compartment. An increase of 44% (P = 0.009) in exercise tolerance was found 6 months after surgical correction. CONCLUSIONS: Six months after Nuss correction in pectus patients, there was a decrease in rib cage mobility. Despite reduction, patients had a significant improvement in exercise tolerance. Therefore, we conclude that early postoperative improvement in exercise capacity is not due to changes in chest wall function. The longer term effects on chest wall function are yet to be defined.