Estudio observacional nacional sobre tratamiento quirúrgico de fístula anal: ¿tiene impacto en los resultados el tipo de hospital? / National observational study about the surgical treatment of anal fistula: does the kind of hospital modify the results?

Introducción: En algunos procedimientos quirúrgicos se ha demostrado que la centralización en hospitales de alto volumen mejora los resultados obtenidos. Sin embargo, este punto aún no ha sido estudiado en los pacientes que son intervenidos por una fístula anal (FA). Material y métodos: Se realizó un estudio multicéntrico retrospectivo en el que se incluyeron los pacientes operados de FA durante el año 2019 en 56 centros españoles. Se hizo un análisis uni y multivariante para analizar la relación entre el tamaño del lugar, el porcentaje de curación de la fístula y el desarrollo de incontinencia fecal (IF). Resultados: Se incluyeron en el estudio a 1.809 pacientes. La cirugía se llevó a cabo en un hospital pequeño en 127 usuarios (7,0%), uno mediano en 571 (31,6%) y uno grande en 1.111 (61,4%). Tras un seguimiento medio de 18,9 meses, 72,3% de los participantes (1.303) se consideraron curados y 132 (7,6%) presentaron IF. El porcentaje de los rehabilitados de la FA fue de 74,8, 75,8 y 70,3% (p = 0,045) en los centros pequeño, mediano y grande, respectivamente. En cuanto a la IF no se evidenciaron diferencias significativas según el tipo de lugar (4,8, 8,0 y 7,7%, respectivamente, p = 0,473). En el análisis multivariante no se observó relación entre el tamaño del hospital y la curación de la fístula o el desarrollo de IF. Conclusión: Los resultados de curación e IF posoperatoria en los pacientes sometidos a una cirugía por FA fueron independientes del volumen hospitalario.(AU)

Introduction: Performing the surgical procedure in a high-volume center has been seen to be important for some surgical procedures. However, this issue has not been studied for patients with an Anal Fistula (AF). Material and methods: A retrospective multicentric study was performed including the patients who underwent AF surgery in 2019 in 56 Spanish hospitals. A univariate and multivariate analysis was performed to analyse the relationship between hospital volume and AF cure and Fecal Incontinence (FI). Results: 1809 patients were include. Surgery was performed in a low, middle, and high-volume hospitals in 127 (7.0%), 571 (31.6%) y 1111 (61.4%) patients respectively. After a mean follow-up of 18.9 months 72.3% (1303) patients were cured and 132 (7.6%) developed FI. The percentage of patients cured was 74.8%, 75.8% and 70.3% (p=0.045) for low, middle, and high-volume hospitals. Regarding FI, no statistically significant differences were observed depending on the hospital volume (4.8%, 8.0% and 7.7% respectively, p=0.473). Multivariate analysis didńt observe a relationship between AF cure and FI. Conclusion: Cure and FI in patients who underwent AF surgery were independent from hospital volume.(AU)

National observational study about the surgical treatment of anal fistula: Does the kind of hospital modify the results?

INTRODUCTION: Performing the surgical procedure in a high-volume center has been seen to be important for some surgical procedures. However, this issue has not been studied for patients with an anal fistula (AF). MATERIAL AND METHODS: A retrospective multicentric study was performed including the patients who underwent AF surgery in 2019 in 56 Spanish hospitals. A univariate and multivariate analysis was performed to analyse the relationship between hospital volume and AF cure and fecal incontinence (FI). RESULTS: 1809 patients were include. Surgery was performed in a low, middle, and high-volume hospitals in 127 (7.0%), 571 (31.6%) y 1111 (61.4%) patients respectively. After a mean follow-up of 18.9 months 72.3% (1303) patients were cured and 132 (7.6%) developed FI. The percentage of patients cured was 74.8%, 75.8% and 70.3% (p = 0.045) for low, middle, and high-volume hospitals. Regarding FI, no statistically significant differences were observed depending on the hospital volume (4.8%, 8.0% and 7.7% respectively, p = 0.473). Multivariate analysis didnt observe a relationship between AF cure and FI. CONCLUSION: Cure and FI in patients who underwent AF surgery were independent from hospital volume.

Puberty blockade: Clinical guideline for the diagnosis and treatment of precocious puberty.

The Mexican Society of Pediatric Endocrinology developed a clinical practice guide for the diagnosis and treatment of precocious puberty. This document presents recommendations related to the interventions for the inhibition of central precocious puberty. The detailed description of the methodology for the development of this guide and the grading system, as well as the synthesis of the evidence on which it is based can be consulted in this same supplement.

La Sociedad Mexicana de Endocrinología Pediátrica elaboró una guía de práctica clínica para el diagnóstico y el tratamiento de la pubertad precoz. Este documento presenta recomendaciones relacionadas con las intervenciones para inhibir la pubertad precoz central. La descripción detallada de la metodología para el desarrollo de esta guía y del sistema de gradación, así como la síntesis de la evidencia en la que se basa, pueden consultarse en este mismo suplemento.

Diagnosis of precocious puberty: clinical guideline for the diagnosis and treatment of precocious puberty.

The Mexican Society of Pediatric Endocrinology developed a clinical practice guide for the diagnosis and treatment of precocious puberty. This document presents recommendations related to the diagnosis of precocious puberty. The detailed description of the methodology for the development of this guide and the grading system, as well as the synthesis of the evidence on which it is based can be accessed in this same supplement.

La Sociedad Mexicana de Endocrinología Pediátrica elaboró una guía de práctica clínica para el diagnóstico y el tratamiento de la pubertad precoz. Este documento presenta recomendaciones relacionadas con el diagnóstico de pubertad precoz. La descripción detallada de la metodología para el desarrollo de esta guía y del sistema de gradación, así como la síntesis de la evidencia en la que se basa, pueden consultarse en este suplemento.

Methodology for the development of the Clinical guideline for the diagnosis and treatment of precocious puberty.

Background: The Mexican Society of Pediatric Endocrinology presents recommendations for the diagnosis and treatment of precocious puberty (PP), a condition defined as the development of sexual characteristics due to an increase in pituitary gonadotropin secretion before 8 or 9 years of age in girls and boys, respectively. Methods: Three systematic reviews were conducted: controlled clinical trials on interventions for PP treatment, diagnostic tests, and observational studies on the long-term effects of PP. The quality evaluation and data extraction from the studies were conducted by two independent reviewers. The Scottish Intercollegiate Guidelines Network and the Oxford Center for Evidence-Based Medicine systems were used for grading the quality of evidence for recommendations on intervention and diagnosis, respectively. Recommendations were submitted to a consensus by a Delphi method and were validated by another 143 certified pediatric endocrinologists through an online questionnaire. Results: The group generated 12 recommendations on the diagnosis of PP, seven on the diagnosis of secondary causes of PP, eight on interventions for inhibition of puberty, five on other interventions for PP treatment, and 14 for the monitoring and follow-up of these patients. The online questionnaires submitted to certified pediatric endocrinologists showed more than 90% of approval for each one of the recommendations. Conclusions: Although a high degree of consensus for the recommendations for diagnosis, treatment, and monitoring of PP among pediatric endocrinologists was achieved, most of these recommendations showed a low level of evidence.

Introducción: La Sociedad Mexicana de Endocrinología Pediátrica presenta recomendaciones para el diagnóstico y el tratamiento de la pubertad precoz (PP), condición definida como el desarrollo de caracteres sexuales por incremento en la secreción hipofisiaria de gonadotropinas antes de los 8 años en las niñas y de los 9 años en los niños. Métodos: Se realizaron tres revisiones sistemáticas de ensayos clínicos controlados sobre intervenciones para el tratamiento de la PP, pruebas diagnósticas y estudios observacionales sobre efectos a largo plazo de la PP. La evaluación de la calidad de los estudios y la extracción de datos se realizó por pares. La evidencia se graduó con el sistema de la Scottish Intercollegiate Guidelines Network (SIGN) y del Oxford Centre for Evidence-Based Medicine (OCEBM) para las recomendaciones sobre la intervención y el diagnóstico, respectivamente. Las recomendaciones generadas se sometieron a un consenso por el método Delphi y fueron validadas por otros 143 endocrinólogos pediatras certificados mediante un cuestionario en línea. Resultados: Mediante consenso se generaron 12 recomendaciones para el diagnóstico de PP, siete sobre diagnóstico de causas secundarias de PP, ocho sobre intervenciones para inhibición de la pubertad, cinco sobre otras intervenciones en PP y 14 para la monitorización del tratamiento y el seguimiento de estos pacientes. Se obtuvo más del 90% de aprobación para cada una de las recomendaciones por el grupo de endocrinólogos certificados que respondieron el cuestionario en línea. Conclusiones: Si bien se logró un alto grado de consenso para las recomendaciones para el diagnóstico, el tratamiento y la monitorización de la PP entre los endocrinólogos pediatras, el nivel de evidencia para la mayoría de estas recomendaciones resultó bajo.

Diagnosis of secondary causes of precocious puberty: Clinical guideline for the diagnosis and treatment of precocious puberty.

The Mexican Society of Pediatric Endocrinology developed a clinical practice guide for the diagnosis and treatment of precocious puberty. This document presents recommendations related to the diagnosis of secondary causes of central PP. The detailed description of the methodology for the development of this guide and the grading system, as well as the synthesis of the evidence on which it is based can be consulted in this same supplement.

La Sociedad Mexicana de Endocrinología Pediátrica elaboró una guía de práctica clínica para el diagnóstico y el tratamiento de la pubertad precoz. Este documento presenta recomendaciones relacionadas con el diagnóstico de causas secundarias de pubertad precoz central. La descripción detallada de la metodología para el desarrollo de esta guía y del sistema de gradación, así como la síntesis de la evidencia en la que se basa, pueden consultarse en este mismo suplemento.

Adjuvant interventions in the treatment of precocious puberty: Clinical guideline for the diagnosis and treatment of precocious puberty.

The Mexican Society of Pediatric Endocrinology developed a clinical practice guide for the diagnosis and treatment of precocious puberty. This document presents recommendations related to the complementary interventions for the treatment of precocious puberty besides puberty blockade. The detailed description of the methodology for the development of this guide and the grading system, as well as the synthesis of the evidence on which it is based, can be consulted in this same supplement.

La Sociedad Mexicana de Endocrinología Pediátrica elaboró una guía de práctica clínica para el diagnóstico y el tratamiento de la pubertad precoz. Este documento presenta recomendaciones relacionadas con intervenciones adyuvantes en el tratamiento de la pubertad precoz distintas de la inhibición de la pubertad. La descripción detallada de la metodología para el desarrollo de esta guía y del sistema de gradación, así como la síntesis de la evidencia en la que se basa, pueden consultarse en este mismo suplemento.

Monitoring during the treatment of precocious puberty: Clinical guideline for the diagnosis and treatment of precocious puberty.

The Mexican Society of Pediatric Endocrinology developed a clinical practice guide for the diagnosis and treatment of precocious puberty. This document presents recommendations related to the monitorization of the treatment and follow-up of patients with central precocious puberty. The detailed description of the methodology for the development of this guide and the grading system, as well as the synthesis of the evidence on which it is based, can be consulted in this same supplement.

La Sociedad Mexicana de Endocrinología Pediátrica elaboró una guía de práctica clínica para el diagnóstico y el tratamiento de la pubertad precoz. Este documento presenta recomendaciones relacionadas con la monitorización del tratamiento y el seguimiento de pacientes con pubertad precoz central. La descripción detallada de la metodología para el desarrollo de esta guía y del sistema de gradación, así como la síntesis de la evidencia en la que se basa, pueden consultarse en este mismo suplemento.

Synthesis of the evidence: Clinical guideline for the diagnosis and treatment of precocious puberty.

Three systematic reviews were conducted to formulate the recommendations on diagnosis, treatment and follow-up of patients with precocious puberty: interventions for the treatment of precocious puberty that included the outcomes of final or near-final height, mental health, metabolic health, health bone, or blockade success; comparative observational studies evaluating long-term outcomes in subjects with a history of precocious puberty; and diagnostic test accuracy studies for puberty.

Se realizaron tres revisiones sistemáticas para la formulación de las recomendaciones sobre diagnóstico, tratamiento y seguimiento de pacientes con pubertad precoz: intervenciones para el tratamiento de la pubertad precoz que incluyeran los desenlaces de talla final o casi final, salud mental, salud metabólica, salud ósea o éxito en el bloqueo; estudios observacionales comparativos que evaluaran desenlaces a largo plazo en sujetos con antecedentes de pubertad precoz; y por último, estudios de exactitud de prueba diagnóstica para pubertad.

Metodología para la elaboración de la Guía de práctica clínica / Methodology for the development of the Clinical guideline for the diagnosis and treatment of precocious puberty

Resumen Introducción: La Sociedad Mexicana de Endocrinología Pediátrica presenta recomendaciones para el diagnóstico y el tratamiento de la pubertad precoz (PP), condición definida como el desarrollo de caracteres sexuales por incremento en la secreción hipofisiaria de gonadotropinas antes de los 8 años en las niñas y de los 9 años en los niños. Métodos: Se realizaron tres revisiones sistemáticas de ensayos clínicos controlados sobre intervenciones para el tratamiento de la PP, pruebas diagnósticas y estudios observacionales sobre efectos a largo plazo de la PP. La evaluación de la calidad de los estudios y la extracción de datos se realizó por pares. La evidencia se graduó con el sistema de la Scottish Intercollegiate Guidelines Network (SIGN) y del Oxford Centre for Evidence-Based Medicine (OCEBM) para las recomendaciones sobre la intervención y el diagnóstico, respectivamente. Las recomendaciones generadas se sometieron a un consenso por el método Delphi y fueron validadas por otros 143 endocrinólogos pediatras certificados mediante un cuestionario en línea. Resultados: Mediante consenso se generaron 12 recomendaciones para el diagnóstico de PP, siete sobre diagnóstico de causas secundarias de PP, ocho sobre intervenciones para inhibición de la pubertad, cinco sobre otras intervenciones en PP y 14 para la monitorización del tratamiento y el seguimiento de estos pacientes. Se obtuvo más del 90% de aprobación para cada una de las recomendaciones por el grupo de endocrinólogos certificados que respondieron el cuestionario en línea. Conclusiones: Si bien se logró un alto grado de consenso para las recomendaciones para el diagnóstico, el tratamiento y la monitorización de la PP entre los endocrinólogos pediatras, el nivel de evidencia para la mayoría de estas recomendaciones resultó bajo.

Abstract Background: The Mexican Society of Pediatric Endocrinology presents recommendations for the diagnosis and treatment of precocious puberty (PP), a condition defined as the development of sexual characteristics due to an increase in pituitary gonadotropin secretion before 8 or 9 years of age in girls and boys, respectively. Methods: Three systematic reviews were conducted: controlled clinical trials on interventions for PP treatment, diagnostic tests, and observational studies on the long-term effects of PP. The quality evaluation and data extraction from the studies were conducted by two independent reviewers. The Scottish Intercollegiate Guidelines Network and the Oxford Center for Evidence-Based Medicine systems were used for grading the quality of evidence for recommendations on intervention and diagnosis, respectively. Recommendations were submitted to a consensus by a Delphi method and were validated by another 143 certified pediatric endocrinologists through an online questionnaire. Results: The group generated 12 recommendations on the diagnosis of PP, seven on the diagnosis of secondary causes of PP, eight on interventions for inhibition of puberty, five on other interventions for PP treatment, and 14 for the monitoring and follow-up of these patients. The online questionnaires submitted to certified pediatric endocrinologists showed more than 90% of approval for each one of the recommendations. Conclusions: Although a high degree of consensus for the recommendations for diagnosis, treatment, and monitoring of PP among pediatric endocrinologists was achieved, most of these recommendations showed a low level of evidence.

Diagnóstico de pubertad precoz / Diagnosis of precocious puberty: clinical guideline for the diagnosis and treatment of precocious puberty

Resumen La Sociedad Mexicana de Endocrinología Pediátrica elaboró una guía de práctica clínica para el diagnóstico y el tratamiento de la pubertad precoz. Este documento presenta recomendaciones relacionadas con el diagnóstico de pubertad precoz. La descripción detallada de la metodología para el desarrollo de esta guía y del sistema de gradación, así como la síntesis de la evidencia en la que se basa, pueden consultarse en este suplemento.

Abstract The Mexican Society of Pediatric Endocrinology developed a clinical practice guide for the diagnosis and treatment of precocious puberty. This document presents recommendations related to the diagnosis of precocious puberty. The detailed description of the methodology for the development of this guide and the grading system, as well as the synthesis of the evidence on which it is based can be accessed in this same supplement.

Diagnóstico de causas secundarias de pubertad precoz / Diagnosis of secondary causes of precocious puberty: Clinical guideline for the diagnosis and treatment of precocious puberty

Resumen La Sociedad Mexicana de Endocrinología Pediátrica elaboró una guía de práctica clínica para el diagnóstico y el tratamiento de la pubertad precoz. Este documento presenta recomendaciones relacionadas con el diagnóstico de causas secundarias de pubertad precoz central. La descripción detallada de la metodología para el desarrollo de esta guía y del sistema de gradación, así como la síntesis de la evidencia en la que se basa, pueden consultarse en este mismo suplemento.

Abstract The Mexican Society of Pediatric Endocrinology developed a clinical practice guide for the diagnosis and treatment of precocious puberty. This document presents recommendations related to the diagnosis of secondary causes of central PP. The detailed description of the methodology for the development of this guide and the grading system, as well as the synthesis of the evidence on which it is based can be consulted in this same supplement.

Inhibición de la pubertad / Puberty blockade: Clinical guideline for the diagnosis and treatment of precocious puberty

Resumen La Sociedad Mexicana de Endocrinología Pediátrica elaboró una guía de práctica clínica para el diagnóstico y el tratamiento de la pubertad precoz. Este documento presenta recomendaciones relacionadas con las intervenciones para inhibir la pubertad precoz central. La descripción detallada de la metodología para el desarrollo de esta guía y del sistema de gradación, así como la síntesis de la evidencia en la que se basa, pueden consultarse en este mismo suplemento.

Abstract The Mexican Society of Pediatric Endocrinology developed a clinical practice guide for the diagnosis and treatment of precocious puberty. This document presents recommendations related to the interventions for the inhibition of central precocious puberty. The detailed description of the methodology for the development of this guide and the grading system, as well as the synthesis of the evidence on which it is based can be consulted in this same supplement.

Intervenciones adyuvantes en el manejo de la pubertad precoz / Adjuvant interventions in the treatment of precocious puberty: Clinical guideline for the diagnosis and treatment of precocious puberty

Resumen La Sociedad Mexicana de Endocrinología Pediátrica elaboró una guía de práctica clínica para el diagnóstico y el tratamiento de la pubertad precoz. Este documento presenta recomendaciones relacionadas con intervenciones adyuvantes en el tratamiento de la pubertad precoz distintas de la inhibición de la pubertad. La descripción detallada de la metodología para el desarrollo de esta guía y del sistema de gradación, así como la síntesis de la evidencia en la que se basa, pueden consultarse en este mismo suplemento.

Abstract The Mexican Society of Pediatric Endocrinology developed a clinical practice guide for the diagnosis and treatment of precocious puberty. This document presents recommendations related to the complementary interventions for the treatment of precocious puberty besides puberty blockade. The detailed description of the methodology for the development of this guide and the grading system, as well as the synthesis of the evidence on which it is based, can be consulted in this same supplement.

Monitorización durante el tratamiento de la pubertad precoz / Monitoring during the treatment of precocious puberty: Clinical guideline for the diagnosis and treatment of precocious puberty

Resumen La Sociedad Mexicana de Endocrinología Pediátrica elaboró una guía de práctica clínica para el diagnóstico y el tratamiento de la pubertad precoz. Este documento presenta recomendaciones relacionadas con la monitorización del tratamiento y el seguimiento de pacientes con pubertad precoz central. La descripción detallada de la metodología para el desarrollo de esta guía y del sistema de gradación, así como la síntesis de la evidencia en la que se basa, pueden consultarse en este mismo suplemento.

Abstract The Mexican Society of Pediatric Endocrinology developed a clinical practice guide for the diagnosis and treatment of precocious puberty. This document presents recommendations related to the monitorization of the treatment and follow-up of patients with central precocious puberty. The detailed description of the methodology for the development of this guide and the grading system, as well as the synthesis of the evidence on which it is based, can be consulted in this same supplement.

Síntesis de la evidencia / Synthesis of the evidence: Clinical guideline for the diagnosis and treatment of precocious puberty

Resumen Se realizaron tres revisiones sistemáticas para la formulación de las recomendaciones sobre diagnóstico, tratamiento y seguimiento de pacientes con pubertad precoz: intervenciones para el tratamiento de la pubertad precoz que incluyeran los desenlaces de talla final o casi final, salud mental, salud metabólica, salud ósea o éxito en el bloqueo; estudios observacionales comparativos que evaluaran desenlaces a largo plazo en sujetos con antecedentes de pubertad precoz; y por último, estudios de exactitud de prueba diagnóstica para pubertad.

Abstract Three systematic reviews were conducted to formulate the recommendations on diagnosis, treatment and follow-up of patients with precocious puberty: interventions for the treatment of precocious puberty that included the outcomes of final or near-final height, mental health, metabolic health, health bone, or blockade success; comparative observational studies evaluating long-term outcomes in subjects with a history of precocious puberty; and diagnostic test accuracy studies for puberty.

Long-term quality of life after peroral endoscopic myotomy remains compromised in patients with achalasia type III.

Background and study aims Peroral endoscopic myotomy (POEM) is an excellent endoscopic treatment for achalasia. Clinical and manometric parameters are used for evaluation and follow-up. However, clinical success does not guarantee high quality of life (QoL) scores, generating doubts about their direct relationship. We aimed to evaluate QoL scores before and after POEM at medium and long term, to evaluate differences between achalasia subtypes and find which factors related to low QoL scores. Patients and methods Achalasia-confirmed patients undergoing POEM between February 2012 and November 2016. and completing at least 1 year of follow-up, were included. Assessment before and at 1, 6, 12, 24, 36 and 48 months after POEM employed manometry, barium series, Eckardt score, and the AE-18 health-related QoL scale. Demographic, clinical, and procedure characteristics were documented, with comparisons between subgroups. Multiple logistic regression analysis was done. Results 65 of 88 patients were included (38 women, 27 men; median age 47 years, interquartile range [IQR] 20 - 81), and 50 (76.9 %) completed 4 years of follow-up. Eckardt score improved (median, preprocedure 10 vs. post-procedure 2; P = 0.002) and this persisted. There was initial improvement in median integrated relaxation pressure (IRP) (29.4 mmHg [16 - 55] vs. 10.3 mmHg [3 - 18]; P = 0.000) and median QoL scores (40 vs. 68 at 1 month; P = 0.002); however IRP increased and QoL scores decreased. Men with confirmed type III achalasia had low QoL scores. Conclusions All patients had significant clinical improvement after POEM, with medium- to long-term persistence. Though quality of life and IRP initially improved, they deteriorated in the long term. Male sex and type III achalasia seem to be associated with low QoL scores.

[Vertebral fractures in children with Type I Osteogenesis imperfecta]. / Fracturas vertebrales en niños con osteogénesis imperfecta tipo I.

Osteogenesis imperfecta (OI) is an hereditary disease affecting conective tissue, mainly associated to growth retardation and pathological fractures. OI type I (OI type I), is the mildest, most often, and homogeneous in its fenotype. Vertebral fractures are the most significant complications, associated to skeletical and cardiopulmonary morbidity. OBJECTIVES: To characterize clinically a cohort of children with OI type I. PATIENTS AND METHODS: A cohort of OI type I children younger than 20 year old was evaluated. Demographic, clinical, biochemical and radiological data were registered. RESULTS: Sixty seven patients were included, 55% male, 69% resident in the Metropolitan Region. The mean age of diagnose was 2.9 years, 70% presented vertebral fractures on follow-up, mostly thoracic, and 50% before the age of 5 years. Fifty percentage presented vertebral fractures at diagnose, which was about the age of 5 years. Bone metabolic parameters were in the normal range, without significant change at the moment of vertebral fractures. Calcium intake was found to be below American Academy of Pediatrics recommendations at the time of the first fracture. CONCLUSIONS: In this study OI type I has an early diagnose, and vertebral fractures show a high incidence, mostly in toddlers. Calcium intake was found to be below reccomended values, and should be closely supervised in these patients.

Fracturas vertebrales en niños con osteogénesis imperfecta tipo I / Vertebral fractures in children with Type I Osteogenesis imperfecta

La Osteogénesis imperfecta (OI) es una enfermedad hereditaria del tejido conectivo, que se caracteriza principalmente por fragilidad ósea, deformidad y alteración del crecimiento. La OI tipo I (OI tipo I) es la más frecuente, leve y clínicamente homogénea. Su mayor complicación es la presencia de fracturas vertebrales, asociadas a morbilidad esquelética y cardiopulmonar. Objetivo: Caracterizar clinicamente una cohorte de niños con OI tipo I. Pacientes y Método: Se examinó una cohorte histórica de pacientes menores de 20 años mediante la revisión de fichas clínicas, rescatando las características demográficas, clínicas, bioquímicas y radiológicas. Resultados: Se incluyeron 67 pacientes, 55% varones, 69% de la Región Metropolitana. La edad media de diagnóstico fue de 2,9 años, el 70% de los pacientes presentó fracturas vertebrales de predominio torácico, y el 50% lo hizo antes de los 5 años. Un 15% presentó fracturas al momento del diagnóstico, siendo en ellos el diagnóstico de OI tipo I cerca de los 5 años. Los parámetros metabólicos óseos estuvieron en rangos adecuados durante el seguimiento, sin cambios significativos al diagnóstico de las fracturas vertebrales, excepto una disminución de la ingesta recomendada de calcio. Conclusiones: En este estudio, la OI tipo I presenta un diagnóstico precoz, principalmente en preescolares, y se asocia a alta frecuencia de fracturas vertebrales. La disminución en la ingesta de calcio demostrada al momento de la primera fractura requiere especial atención en estos pacientes.

Osteogenesis imperfecta (OI) is an hereditary disease affecting conective tissue, mainly associated to growth retardation and pathological fractures. OI type I (OI type I), is the mildest, most often, and homogeneous in its fenotype. Vertebral fractures are the most significant complications, associated to skeletical and cardiopulmonary morbidity. Objectives: To characterize clinically a cohort of children with OI type I. Patients and Methods: A cohort of OI type I children younger than 20 year old was evaluated. Demographic, clinical, biochemical and radiological data were registered. Results: Sixty seven patients were included, 55% male, 69% resident in the Metropolitan Region. The mean age of diagnose was 2.9 years, 70% presented vertebral fractures on follow-up, mostly thoracic, and 50% before the age of 5 years. Fifty percentage presented vertebral fractures at diagnose, which was about the age of 5 years. Bone metabolic parameters were in the normal range, without significant change at the moment of vertebral fractures. Calcium intake was found to be below American Academy of Pediatrics recommendations at the time of the first fracture. Conclusions: In this study OI type I has an early diagnose, and vertebral fractures show a high incidence, mostly in toddlers. Calcium intake was found to be below reccomended values, and should be closely supervised in these patients.

Validation of a new scoring system: Rapid assessment faecal incontinence score.

AIM: To implement a quick and simple test - rapid assessment faecal incontinence score (RAFIS) and show its reliability and validity. METHODS: From March 2008 through March 2010, we evaluated a total of 261 consecutive patients, including 53 patients with faecal incontinence. Demographic and comorbidity information was collected. In a single visit, patients were administered the RAFIS. The results obtained with the new score were compared with those of both Wexner score and faecal incontinence quality of life scale (FIQL) questionnaire. The patient without influence of the surgeon completed the test. The role of surgeon was explaining the meaning of each section and how he had to fill. Reliability of the RAFIS score was measured using intra-observer agreement and Cronbach's alpha (internal consistency) coefficient. Multivariate analysis of the main components within the different scores was performed in order to determine whether all the scores measured the same factor and to conclude whether the information could be encompassed in a single factor. A sample size of 50 patients with faecal incontinence was estimated to be enough to detect a correlation of 0.55 or better at 5% level of significance with 80% power. RESULTS: We analysed the results obtained by 53 consecutive patients with faecal incontinence (median age 61.55 ± 12.49 years) in the three scoring systems. A total of 208 healthy volunteers (median age 58.41 ± 18.41 years) without faecal incontinence were included in the study as negative controls. Pearson's correlation coefficient between "state" and "leaks" was excellent (r = 0.92, P < 0.005). Internal consistency in the comparison of "state" and "leaks" yielded also excellent correlation (Cronbach's α = 0.93). Results in each score were compared using regression analysis and a correlation value of r = 0.98 was obtained with Wexner score. As regards FIQL questionnaire, the values of "r" for the different subscales of the questionnaire were: "lifestyle" r = -0.87, "coping/behaviour" r = -0.91, "depression" r = -0.36 and "embarrassment" r = -0.90, (P < 0.01). A multivariate analysis showed that all the scoring systems measured the same factor. A single factor may explain 80.84% of the variability of FI, so all the scoring systems measure the same factor. Patient's continence improves when RAFIS and Jorge-Wexner scores show low values and when the values obtained in the FIQL questionnaire are high. CONCLUSION: RAFIS is a valid and reliable tool to assess Faecal Incontinence.