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Fragile X syndrome (FXS) is caused by a hypermethylated full mutation (FM) expansion with ≥ 200 CGG repeats, and a decrease in FMR1 mRNA and its protein. However, incomplete silencing from FM alleles has been associated with more severe autism features in FXS males. This study compared scores on the Aberrant Behavior Checklist-Community-FXS version (ABC-CFX) in 62 males affected with FXS (3 to 32 years) stratified based on presence or absence of mosaicism and/or FMR1 mRNA silencing. Associations between ABC-CFX subscales and FMR1 mRNA levels, assessed using real-time PCR relative standard curve method, were also examined. The FXS group mosaic for premutation (PM: 55-199 CGGs) and FM alleles had lower irritability (p = 0.014) and inappropriate speech (p < 0.001) scores compared to males with only FM alleles and complete loss of FMR1 mRNA. The PM/FM mosaic group also showed lower inappropriate speech scores compared to the incomplete silencing (p = 0.002) group. Increased FMR1 mRNA levels were associated with greater irritability (p < 0.001), and lower health-related quality of life scores (p = 0.004), but only in the incomplete silencing FM-only group. The findings suggest that stratification based on CGG sizing and FMR1 mRNA levels may be warranted in future research and clinical trials utilising ABC-CFX subscales as outcome measures.

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Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID) and co-morbid autism. It is caused by an amplification of the CGG repeat (>200), which is known as the full mutation, within the 5'UTR of the FMR1 gene. Expansions between 55-200 CGG repeats are termed premutation and are associated with a greater risk for fragile X-associated tremor/ataxia syndrome and fragile X-associated premature ovarian insufficiency. Intermediate alleles, also called the grey zone, include approximately 45-54 repeats and are considered borderline. Individuals with less than 45 repeats have a normal FMR1 gene. We report the occurrence of CGG expansions of the FMR1 gene in Chile among patients with ID and families with a known history of FXS. Here, we present a retrospective review conducted on 2321 cases (2202 probands and 119 relatives) referred for FXS diagnosis and cascade screening at the Institute of Nutrition and Food Technology (INTA), University of Chile. Samples were analysed using traditional cytogenetic methods and/or PCR. Southern blot was used to confirm the diagnosis. Overall frequency of FMR1 expansions observed among probands was 194 (8·8%), the average age of diagnosis was 8·8 ± 5·4 years. Of 119 family members studied, 72 (60%) were diagnosed with a CGG expansion. Our results indicated that the prevalence of CGG expansions of the FMR1 gene among probands is relatively higher than other populations. The average age of diagnosis is also higher than reference values. PCR and Southern blot represent a reliable molecular technique in the diagnosis of FXS.

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INTRODUCTION: The physical exercise is an important therapeutic tool to prevent and treat obesity, as well as reducing metabolic alterations and the risk of non-communicable diseases. OBJECTIVE: To evaluate the impact of a strength training exercise intervention within the school system, this includes muscular strength exercise, dietary education and psychological support in obese children. METHODS: We worked with 120 obese schoolchildren, between 8 and 13 years, recruited from 3 schools. Group 1 (n = 60) participated in the intervention, which included physical exercise, dietary education, and psychological support, for 3 months. Group 2 (n = 60) received only the educational intervention and psychological support for the first 3 months, and then received the exercise intervention from months 3 to 6. Participants were evaluated for BMI, waist circumference, body fat, presence of metabolic syndrome and cardiovascular risk factors. RESULTS: At 3 months, there were significant differences between the groups for change in BMI z-score, waist circumference, and body fat as well as prevalence of metabolic syndrome, abdominal obesity, hypertriglyceridemia, and fasting hyperglycemia. In group 1, these parameters decreased and increased, in group 2. From months 3 to 6, Group 2 showed a significant decrease in abdominal obesity, high blood pressure, and hypertriglyceridemia, while Group 1 showed a significant increase in high blood pressure and no change in other cardiovascular risk factors. CONCLUSION: This study demonstrates the positive impact of a strength training physical exercise program on reduction of body fat, metabolic syndrome and cardiovascular risk factors. This study supports the use of exercise as a treatment for obesity and its comorbidities in schoolchildren.

Introducción: El ejercicio físico es una importante herramienta terapéutica para prevenir y tratar la obesidad y disminuir las alteraciones metabólicas asociadas al desarrollo de las enfermedades crónicas no transmisibles. Objetivo: Evaluar el impacto de una intervención al interior del sistema escolar, que incluye el ejercicio de fuerza muscular, educación alimentaria y apoyo psicológico en escolares obesos. Métodos: Se trabajó con 120 escolares obesos, entre 8 y 13 AÑOs, reclutados en 3 colegios. El Grupo 1 (n = 60), fueron intervenidos simultáneamente con ejercicio físico, educación alimentaria y apoyo psicológico durante 3 meses. El Grupo 2 (n = 60), durante el mismo período, recibió sólo la intervención educativa y el apoyo psicológico, siendo intervenido con ejercicio entre los 3 y los 6 meses. Se evaluó IMC, perímetro de cintura, grasa corporal, síndrome metabólico y factores de riesgo cardiovasculares. Resultados: A los 3 meses, hubo diferencias significativas entre ambos grupos en la variación del zIMC, circunferencia cintura, grasa corporal, síndrome metabólico, obesidad abdominal, hipertrigliceridemia e hiperglicemia de ayuno. En el grupo 1, estos parámetros disminuyeron y aumentaron, en el grupo 2. Entre los 3-6 meses, en el grupo 2, hubo una disminución significativa en la obesidad abdominal, presión arterial elevada e hipertrigliceridemia, en tanto en el grupo 1, aumento significativo de la presión arterial elevada sin variaciones en los otros factores de riesgo cardiovasculares. Conclusiones: Se demostró el impacto positivo del ejercicio físico de fuerza muscular en la reducción de la grasa corporal, del síndrome metabólico y de los factores de riesgo cardiovasculares. Este trabajo refuerza el uso del ejercicio como tratamiento de la obesidad y de sus comorbilidades en escolares.

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INTRODUCTION: The high prevalence of the obesity in Chilean students (23,1%), necessitates the application of interventions that incorporate muscle strength exercise, as this shows great efficacy in obese children. OBJECTIVE: To evaluate the residual effect of muscle strength exercise on body fat, metabolic syndrome and physical fitness in obese schoolchildren. METHODS: The sample included 111 obese schoolchildren, between 8 and 13 years, of 3 schools in the city of Santiago. Early intervention (n = 60) participated in parallel intervention that included muscle strength exercise, nutrition education and psychological support for 3 months. The late intervention (n = 51) incorporated the first 3 months, only the educational intervention and psychological support, and exercise was added between 3 and 6 months. At 9 months post intervention, we evaluated the residual effect of exercise. Body fat was determined by anthropometric equations. The metabolic syndrome was diagnosed by the criteria of Cook. Physical fitness was assessed by the distance walked in six minutes test. RESULTS: The body fat percentage decreased at the end of the intervention and post intervention increased with the exception of the men of early intervention. The distance traveled increased at the end of the intervention but declined in the post intervention. Metabolic syndrome, decreased at the end of the intervention increased post intervention (p < 0,05). CONCLUSION: The sustainability of the exercise is essential to maintain the changes, which is checked to determine the residual effect of exercise on body fat, metabolic syndrome and physical condition.

Introducción: La elevada prevalencia de la obesidad en escolares chilenos (23,1%), hace necesario la aplicación de intervenciones que incorporen el ejercicio físico de fuerza muscular, pues éste muestra gran eficacia en niños obesos. Objetivo: Evaluar el efecto residual del ejercicio físico de fuerza muscular sobre la grasa corporal, el síndrome metabólico y la condición física en escolares obesos. Métodos: La muestra incluyó 111 escolares obesos, entre 8 y 13 AÑOs, de 3 colegios de la ciudad de Santiago. La intervención temprana (n = 60) ejecutó en paralelo ejercicio físico de fuerza muscular, educación alimentaria y apoyo psicológico durante 3 meses. La intervención tardía (n = 51), incorporó los primeros 3 meses, sólo la intervención educativa y el apoyo psicológico, y el ejercicio se agregó entre los 3 y 6 meses. A los 9 meses post-intervención, se evaluó el efecto residual del ejercicio físico. La grasa corporal se determinó por ecuaciones antropométricas. El síndrome metabólico se diagnóstico por el criterio de Cook. La condición física se evaluó por la distancia recorrida en el test de seis minutos. Resultados: El porcentaje grasa corporal disminuyó al final de la intervención y aumentó post-intervención, con la excepción de los hombres de la intervención temprana. La distancia recorrida se incrementó al final de la intervención, pero se redujo en la post-intervención. El síndrome metabólico, disminuyó al término de la intervención incrementando post-intervención (p < 0,05). Conclusiones: La sustentabilidad del ejercicio es fundamental para mantener los cambios, lo que se comprueba al evaluar el efecto residual del ejercicio físico sobre la grasa corporal, el síndrome metabólico y la condición física.

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Resumen. El Síndrome X Frágil (SXF) constituye la causa más frecuente de retraso mental hereditario y autismo. Los individuos con mutación completa (MC) presentan alteraciones clínicas que incluyen: déficit cognitivo y atencional, hiperactividad, autismo y problemas emocionales. Los portadores de premutación (PM) pueden afectarse del síndrome de temblor y ataxia asociado a X frágil (FXTAS); el 30 por ciento de las mujeres con PM presentan insuficiencia ovárica prematura(FXPOI). Cuando un individuo presenta una MC es frecuente encontrar otros familiares afectados. El fenotipo al nacer no es evidente, se sugiere que debe hacerse el diagnóstico entre los35-37 meses, sin embargo, la edad de diagnóstico en Chile es en promedio de 8 +/- 5.8 años. El centro de diagnóstico, tratamiento y seguimiento de pacientes con síndrome X frágil (CDTSXF)es un centro multidisciplinario, que incluye diagnósticos moleculares, genetistas médicos, asesoramiento genético, neurólogos, terapeutas ocupacionales, fonoaudiólogo, evaluaciones nutricionales y psicológicas para las familias afectadas. Desde el año 2010 hemos asistido a 28familias y detectado un número significativo de afectados debido a la detección en cascada. Se ha diagnosticado a 63 probandos, 57 MC y ocho mosaicos de MC/PM. Entre las madres portadoras 37 son PM y dos presentaron una MC. En 9/28 familias había un adulto mayor con FXTAS, diez familias presentaron mujeres con FXPOI. 41/63 probandos han participado denle el protocolo multidisciplinario del CDTSXF. Los resultados de este enfoque multidisciplinario nos motiva a seguir trabajando en mejorar el comportamiento y desarrollo cognitivo de los pacientes y atender las principales necesidades de las familias afectadas.

Fragile X Syndrome (FXS) is the most common inherited form of mental retardation and a leading known cause of autism. Individuals with a full mutation (FM) present disabilities including: cognitive and attention deficit, hyperactivity, autism, and other emotional problems. Carriers of a premutation (PM) may be affected by fragile X associated tremor/ataxia syndrome (FXTAS) and primary ovarian insufficiency (FXPOI) in 30 percent of PM women. Therefore, multigenerational family involvement is commonly found when a proband is diagnosed with a FXS mutation. FXS has no obvious phenotype at birth, it is suggested that the diagnosis should be made at 35-37 months; the age of diagnosis in Chile is on average 8+/-5.8 yo. The center for diagnosis, treatment and monitoring of patients with fragile X syndrome (CDTTRABAJOMFXS), is a multidisciplinary center that includes molecular testing, medical geneticists, genetic counseling, neurologists, occupational therapists, physical therapists, and nutritional and psychological interventions to families with an FM proband. Since 2010, we have assisted 28 families with a total of 63 diagnosed probands using specific PCR and Southern blot tests. Among them, 57 had a FM and eight had a mosaic FM/PM. Among the mothers 37 are PM carriers and two presented a FM. An older adult with FXTAS was present in 9/28 families; ten families presented women with FXPOI. A significant number of affected family members have been detected through cascade screening. Among the probands 41 of 63 have received some of the multidisciplinary diagnostic and interventions. The results of this multidisciplinary work allow us to put forward more effort towards improving behavior and cognitive development of patients as well as trying to solve families’ main needs.

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Hypotheses regarding the function of elaborate male genitalia were tested in a sample of insects and spiders by comparing their allometric values (slopes in log-log regressions on indicators of body size) with those of other body parts. Male genitalia consistently had lower slopes than other body parts. Perhaps as a consequence of this pattern, genitalic size also tended, though less consistently, to have lower coefficients of variation than did the size of other body parts. The morphological details of coupling between males and females in several species clearly indicated that selection favoring mechanical fit is not responsible for these trends. Sexual selection on male courtship structures that are brought into contact with females in precise ways may favor relatively low allometric values, in contrast to the high values seen in the other sexually selected characters (usually visual display devices) that have been studied previously, because a female's own size will influence her perception of the contact courtship devices of a male.

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The breech birth of an infant mantled howling monkey was observed on February 12, 1990. The mother assisted the successful delivery by pulling on the infant's tail and hindleg. No other members of the social group attended the mother or demonstrated any interest in the birth process.