Delphi Consensus on Diagnostic Criteria for LUMBAR Syndrome.

OBJECTIVE: To develop consensus on diagnostic criteria for LUMBAR syndrome, the association of segmental infantile hemangiomas that affect the Lower body with Urogenital anomalies, Ulceration, spinal cord Malformations, Bony defects, Anorectal malformations, Arterial anomalies and/or Renal anomalies. STUDY DESIGN: These diagnostic criteria were developed by an expert multidisciplinary and multi-institutional team based on analysis of peer-reviewed data, followed by electronic-Delphi consensus of a panel of 61 international pediatric specialists. RESULTS: After 2 Delphi rounds, a 92% or higher level of agreement was reached for each Delphi statement. 98% of panelists agreed with the diagnostic criteria, and 100% agreed the criteria would be useful in clinical practice. The diagnosis of LUMBAR requires the presence of a segmental, or patterned, infantile hemangioma of the lumbosacral, sacrococcygeal, or pelvic cutaneous regions plus one additional criterion of the urogenital, spinal, bony, anorectal, arterial, or renal organ systems. CONCLUSIONS: These diagnostic criteria will enhance clinical care by improving screening, detection, and overall awareness of this poorly understood neurocutaneous disorder. The criteria can be utilized by a wide variety of pediatric subspecialists. In addition, formal criteria will improve phenotypic uniformity among LUMBAR syndrome cohorts and a patient registry, allowing investigators to assess clinical features, long-term outcomes, and results of genetic sequencing in a standardized manner. Finally, these criteria will serve as a starting point for prospective studies to establish formal screening and management guidelines.

T2-based magnetic resonance genitography in children with complex anorectal malformations: experience at a tertiary pediatric hospital in Latin America.

In children with anorectal malformations (ARMs), it is essential to have a diagnostic imaging method that helps with the evaluation of the internal anatomy. In patients with a persistent cloaca, an ARM variant, in which the measurement of the urethral channel and common channel determines surgical management, there are multiple options for imaging. Magnetic resonance imaging (MRI) is an excellent method for this purpose, from which accurate measurements of channel length can be obtained. Additionally, the use of volumetric/isotropic sequences allows multiplanar reformatting. We present our experience with pelvic MRI and intracavitary non-paramagnetic contrast (MR genitography). This method uses volumetric T2-weighted images and the instillation of saline solution as a contrast agent to distinguish the common channel, length of the urethra, anatomy of the vagina, and presence and location of the rectal fistula. We believe this technique to be particularly useful for those working in settings with limited MRI resources.

Síndrome de Currarino incompleto. Presentación de un caso

El síndrome de Currarino es una enfermedad hereditaria y de baja incidencia, compuesta por una tríada: estenosis anal, malformación sacro coccígea y masa presacra. Puede cursar desapercibido hasta la adultez y generar subdiagnósticos. Se describe un paciente de 75 años, masculino, piel negra, de procedencia urbana y con antecedentes de hipertensión arterial, quien acudió al hospital por presentar hematuria, dolor en fosa lumbar izquierda y estreñimiento. Se realizaron estudios imagenológicos, como ultrasonido, tomografía de abdomen y resonancia magnética lumbosacra, los cuales condujeron al diagnóstico de tumor renal, síndrome de Currarino incompleto (dado por dos elementos de la triada: malformación sacro coccígea y masa presacra) asociado a otra enfermedad malformativa raquimedular, médula anclada. Son pocos los casos reportados en el mundo (casi 300), por lo que se considera una entidad rara, pero de fácil diagnóstico debido al advenimiento de las nuevas tecnologías en el campo de la imagenología.

Currarino syndrome is a hereditary disease with a low incidence, composed of a triad: anal stenosis, sacrococcygeal malformation and presacral mass. It can go unnoticed until adulthood and generate subdiagnoses. A 75-years-old male, black-skinned, urban origin patient with a history of arterial hypertension is described, who attended the hospital presenting hematuria, pain in the left lumbar fossa, and constipation. Radiological studies such as ultrasound, abdominal tomography and lumbosacral magnetic resonance were performed, which led to the diagnosis of a renal tumor, incomplete Currarino syndrome (given by two elements of the triad: sacrococcygeal malformation and presacral mass) associated with another spinal cord malformation disease, tethered cord. There are few cases reported in the world (almost 300), so it is considered a rare entity, but easy to diagnose due to new imaging technologies.

Caracterización de las técnicas quirúrgicas para el tratamiento de la enfermedad hemorroidal

Introducción: En el tramo distal del conducto anal es normal la presencia de unas estructuras a modo de cojines, constituidas por tejido vascular, denominadas plexos hemorroidales. Objetivo: Comparar las técnicas quirúrgicas abiertas y cerrada en la enfermedad hemorroidal en la provincia Camagüey, en el periodo comprendido desde enero de 2021 a enero de 2023. Métodos: Se realizó un estudio observacional, analítico de corte transversal. El universo lo conformaron 135 pacientes que acudieron a consulta con el diagnóstico de enfermedad hemorroidal. Se le realizó un muestreo aleatorio simple, donde se tomaron 15 pacientes de cada uno de los grupos para conformar una muestra total de 45, cada grupo fue tratado con una técnica quirúrgica diferente. Resultados: En relación al sexo predominó el femenino, el tiempo quirúrgico fue dado a los 30 minutos en las técnicas abiertas. El dolor postoperatorio como complicación inmediata fue significativo con la utilización de la técnica abierta Whitehead clásico, no existieron complicaciones mediatas en el estudio; mientras que en las tardías la estenosis anal fue la que más se manifestó. Conclusiones: Existió predomino del sexo femenino, el tiempo de quirúrgico de mayor frecuencia fue de 30 minutos en los pacientes operados con la técnica abiertas, en la mayor parte de los pacientes se constató dolor excesivo como complicación inmediata con las técnicas de Milligan-Morgan y Whitehead clásico abiertas no así con la cerrada de Ferguson. La estenosis anal fue la complicación quirúrgica tardía más frecuente asociada a la técnica de Whitehead clásico.

Introduction: In the distal section of the anal canal, the presence of "cushion"-like structures, mainly made up of vascular tissue, called hemorrhoid plexuses. Objective: To compare the open and closed surgical techniques in hemorrhoid disease in Camagüey province, in the period from January 2021 to January 2023. Methods: An observational, analytical, cross-sectional study was carried out. The universe was made up of 135 patients who attended the consultation with the diagnosis of hemorrhoid disease. A simple random sampling was carried out, where 15 patients from each of the groups were taken to form a total sample of 45 patients, each group was treated with a surgical technique. Results: In relation to sex, the female sex predominated, the surgical time was given at 30 minutes in the open techniques. Postoperative pain as an immediate complication was significant with the use of the classic Whitehead open technique; there were no mediate complications in this study; while in the late ones, anal stenosis was the one that manifested itself the most. Conclusions: There was a predominance of the female sex, the most frequent surgical time was 30 minutes in patients operated with the open technique, in most patients excessive pain was found as an immediate complication with the Milligan-Morgan and classic Whitehead open techniques, but not so with the closed technique of Ferguson. Anal stenosis was the most frequent late surgical complication associated with the classic Whitehead technique.

Síndrome Towens-Brocks, presentación de caso / Towens-Brocks syndrome. Presentation of a case

RESUMEN Introducción: el Síndrome Townes-Brocks es una enfermedad genética malformativa, que se hereda de forma autosómica dominante, con penetrancia completa y expresividad muy variable. Caracterizada por una triada de defectos congénitos nivel de oído externo, anorrectales, y en la parte distal de las extremidades, sobre todo a nivel de los pulgares, causado por mutaciones en el gen SALL1, que codifica para el factor de transcripción, localizado en cromosoma 16q12.1. Presentación de caso: se presenta una lactante de nueve meses que al nacimiento se diagnosticó ano imperforado, apéndices preauriculares y primer dedo bífido. Se realizó de inmediato el diagnóstico clínico y la intervención quirúrgica que terminó en colostomía bien tolerada, se logró buena nutrición y desarrollo psicomotor. Conclusiones: se considera el diagnóstico clínico precoz, importante para efectuar intervenciones oportunas que permitan mejorar las funciones vitales de estos enfermos, así como brindar un adecuado asesoramiento genético a las familias.

ABSTRACT Introduction: Townes-Brocks syndrome is a malformation genetic disease, is an autosomal dominant genetic disorder, with complete penetrance and highly variable expressivity. It is characterized by a triad of congenital defects at the level of the external ear, anorectal and distal extremities, especially at the level of the thumbs, caused by mutations in the SALL1 gene, which codes for the transcription factor, located on chromosome 16q12.1. Case presentation: a 9-month-old female infant was diagnosed at birth with imperforate anus, preauricular appendix and bifid first finger. The clinical diagnosis was immediately made and the surgical intervention ended in a well-tolerated colostomy, achieving good nutrition and psychomotor development. Conclusions: early clinical diagnosis is considered important to carry out timely interventions to improve the vital functions on these patients, as well as to provide adequate genetic counseling to the families.

Asociación VACTERL con poliquistosis renal en un recién nacido: reporte de caso

Las malformaciones son causas importantes de mortalidad infantil, enfermedad crónica y discapacidad en muchos países, y ocasionan 3,2 millones de discapacidades al año. La asociación VACTERL involucra defectos vertebrales, atresia anal, fístula traqueoesofágica y displasia renal, así como anormalidades en las extremidades. Nuestro objetivo es describir las características generales de la asociación VACTERL y realizar un acercamiento a otros casos en la literatura. Nuestro caso trata de una recién nacida a las 35 semanas con grave dificultad respiratoria, que ingresa a la UCI neonatal por descompensación hemodinámica. Tiene un antecedente de poliquistosis renal bilateral a las 25 semanas dado por ecografía. En el examen físico se evidencia agenesia de órganos sexuales y ano imperforado, y en la radiografía se observa patrón atelectásico, cardiomegalia y posición dextrógira de la silueta cardiaca. La paciente fue diagnosticada con asociación VACTERL y ano imperforado. Sufrió un paro respiratorio y falleció luego de dos días.

Malformations are important causes of infant mortality, chronic disease and disability in many countries, causing 3.2 million disabilities per year. The VATERL association includes vertebral defects, anal atresia, tracheoesophageal fistula and renal dysplasia, as well as limb abnormalities. This case report aims to provide the general characteristics of the VACTERL association and discuss other cases found in the medical literature. This is the case of a female newborn delivered at 35 weeks of pregnancy with severe respiratory distress, who was admitted to the neonatal ICU due to hemodynamic decompensation. She had a history of bilateral polycystic kidney disease found by ultrasound at 25 weeks of pregnancy. A physical examination showed vaginal agenesis and imperforate anus. Atelectasis, cardiomegaly and dextroposition of the cardiac silhouette were observed in a radiography. The patient was diagnosed with VACTERL association and imperforate anus. She died 2 days after a respiratory arrest.

Diagnóstico prenatal del síndrome de Currarino completo. Presentación de un caso / Prenatal diagnosis of complete Currarino syndrome. Case report

RESUMEN Fundamento: El síndrome de Currarino es una enfermedad poco frecuente, presenta varias malformaciones conformadas por una tríada: estenosis anal, malformación sacrococcígea y masa presacra; su diagnóstico se realiza con frecuencia en edad adulta. Objetivo: Reportar un caso que se diagnosticó con síndrome de Currarino en etapa fetal. Caso clínico: Se reportó un feto del sexo masculino de 22 semanas de gestación, con síndrome de Currarino que al realizarle la necropsia se constató la presencia de: defecto sacro coccígeo (ausencia total del sacro), masa o tumoración presacra (de aspecto quístico), ano imperforado y ausencia de pliegue interglúteo, estenosis del sigmoide y bolsa escrotal única, riñón único, pélvico y poliquístico, con salida de 2 uréteres. Conclusiones: El síndrome de Currarino se caracteriza por una tríada de presentaciones, en muchos casos se puede pasar por alto y existir subdiagnósticos, por lo que su detección precoz permite evitar complicaciones en la etapa adulta y mejorar la calidad de vida.

ABSTRACT Background: Currarino syndrome is a non-frequently disease, presenting several malformations consisting of a triad: anal stenosis, sacrococcygeal malformation and presacral mass; its diagnosis is habitually performed in adulthood. Objective: To report a case diagnosed with Currarino syndrome in the fetal stage. Case report: A 22-week gestation male fetus with Currarino syndrome, at necropsy he was found to have: sacrococcygeal defect (total absence of the sacrum), presacral mass or tumors (cystic appearance), non-perforated anus and absence of intergluteal fold, sigmoid stenosis and single scrotal pouch, single, pelvic and polycystic kidney, with exit of 2 ureters. Conclusions: Currarino syndrome is characterized by a triad of appearances, in many cases it can be overlooked and underdiagnosed, so early detection can prevent complications in adulthood and improve life quality.

Functional outcome after cord detethering in fecally incontinent patients with anorectal malformations.

PURPOSE: Tethered cord (TC) occurs in 36% of patients with anorectal malformations (ARMs), for whom the benefit of detethering surgery remains unclear regarding bowel and/or bladder function. This study aimed to examine whether cord detethering could improve fecal and urinary incontinence in these patients. METHODS: This was a retrospective study of TC patients (>3 years old) with fecal incontinence and ARMs, who underwent detethering surgery between 2016 and 2020 and were followed up for at least 6 months. RESULTS: Of the 27 included patients, 55% had sacral ratios between 0.4 and 0.7, and in 37% it was < 0.4; the remaining 8% was over 0.7; 52% suffered from colonic hypermotility. After detethering surgery, partial fecal continence was achieved in five patients (18%); total fecal continence, in ten patients (37%); 12 (44%) remained fecally incontinent. Partial urinary continence was obtained in four cases (14%), and the number of patients with total urinary continence rose from 7 (25%) to 15 (55%). Lower extremity symptoms were also improved in 72% of the cases. Patients with colonic hypomotility were found to have a better functional outcome than those with colonic hypermotility (69% vs. 43%, respectively). CONCLUSION: Our study demonstrated that detethering surgery led to remarkably improved bowel and bladder control in ARM patients with fecal incontinence, which, surprisingly, was not associated with sacral ratio.

Perineal Groove: An Anorectal Malformation Network, Consortium Study.

OBJECTIVE: To review the Anorectal Malformation Network experience with perineal groove (PG) focusing on its clinical characteristics and management. STUDY DESIGN: Data on patients with PG managed at 10 participating Anorectal Malformation Network centers in 1999-2019 were collected retrospectively by questionnaire. RESULTS: The cohort included 66 patients (65 females) of median age 1.4 months at diagnosis. The leading referral diagnosis was anal fissure (n = 20 [30.3%]): 23 patients (34.8%) had anorectal malformations. Expectant management was practiced in 47 patients (71.2%). Eight (17%) were eventually operated for local complications. The median time to surgery was 14 months (range, 3.0-48.6 months), and the median age at surgery was 18.3 months (range, 4.8-58.0 months). In the 35 patients available for follow-up of the remaining 39 managed expectantly, 23 (65.7%) showed complete or near-complete self-epithelization by a mean age 15.3 months (range, 1-72 months) and 4 (11.4%) showed partial self-epithelization by a mean age 21 months (range, 3-48 months). Eight patients showed no resolution (5 were followed for ≤3 months). Nineteen patients (28.7%) were primarily treated with surgery. In total, 27 patients were operated. Dehiscence occurred in 3 of 27 operated patients (11.1%). CONCLUSIONS: PG seems to be an underestimated anomaly, frequently associated with anorectal malformations. Most cases heal spontaneously; therefore, expectant management is recommended. When associated with anorectal malformations requiring reconstruction, PG should be excised in conjunction with the anorectoplasty.

Abnormal expression of TBX4 during anorectal development in rat embryos with ethylenethiourea-induced anorectal malformations.

BACKGROUND: To assess the expression of T-box transcription factor 4 (TBX4) during the anorectal development in normal and ethylenethiourea (ETU)-induced anorectal malformations (ARM) rat embryos. METHODS: Anorectal malformations was induced by ETU on the 10th gestational day (E10) in rat embryos. Spatio-temporal expression of TBX4 was evaluated in normal (n = 490) and ETU-induced ARM rat embryos (n = 455) from E13 to E16 by immunohistochemical staining, Western blot analysis and real-time RT-PCR. RESULTS: In the normal embryos, immunohistochemical staining revealed that TBX4 expression was detected in the epithelium of hindgut and urorectal septum (URS) on E13. TBX4-immunopositive cells were increased significantly in the epithelium of hindgut and URS, the future anal orifice part of cloacal membrane on E14. On E15, abundant stained cells were observed in the rectum, URS and dorsal cloacal membrane and the expression of positive cells reached its peak. On E16, only sporadic positive cells were distributed in the epithelium of the distal rectum. In the ARM embryos, the hindgut/rectum, URS and dorsal cloacal membrane were faint for TBX4 immunohistochemical staining. In the normal group, TBX4 protein and mRNA expression showed time-dependent changes in the hindgut/rectum from E13 to E16 on Western blot and real-time RT-PCR. On E13 and E15, the expression level of TBX4 mRNA in the ARM group was significantly lower than that in the normal group (P < 0.05). On E15, the expression level of TBX4 protein in the ARM group was significantly lower than that in the normal group (P < 0.05). CONCLUSIONS: The expression of TBX4 was downregulated in ETU-induced ARM embryos, which may play important roles in the pathogenesis of anorectal development.

Experiences of parents and/or caretakers of children with Hirschsprung's disease or anorectal malformations during follow-up after pediatric surgery / Vivencias de los padres o cuidadores de niños con enfermedad de Hirschsprung o con malformaciones anorrectales, bajo seguimiento después de la cirugía

Introduction: Hirschsprung's disease and anorectal malformations are pathologies that affect the pediatric population and compromise life from birth, making diagnosis and early treatment essential. The comorbidities they lead to in the long-term take parents and caretakers to situations that, without proper accompaniment, can generate serious complications in the child. Objective: To describe the meaning of the experiences of parents of children with Hirschsprung's disease or anorectal malformations who have had surgical treatment and are being followed-up. Materials and methods: This was a phenomenological qualitative research carried out through interviews with five parents of children with Hirschsprung's disease and five parents of children with anorectal malformations. Results: We found common experiences from which the following topics emerged: a) Difficult diagnosis, which involves the feelings and the impact generated by receiving this news; for health personnel it is not always a situation that is identified early; b) treatment: Social isolation due to hospitalizations and the presence of an ostomy, in addition to the channeling of resources for the child at the expense of those of the home; coping skills are required to achieve definitive surgical repair; and c) context: Health institutions may become barriers and health personnel must have more education in this regard; social support networks are necessary. Conclusion: The experiences reflected that diagnosis, treatment, and context generated great impact on the lives of parents and/or caretakers of children with these pathologies.

Introducción. La enfermedad de Hirschsprung y las malformaciones anorrectales son enfermedades que afectan a los niños y comprometen su vida desde el nacimiento, por lo que su diagnóstico y tratamiento temprano son esenciales. Las comorbilidades que implican a largo plazo llevan a los padres y cuidadores a situaciones que pueden generar graves complicaciones para el niño si no se cuenta con el acompañamiento adecuado. Objetivo. Describir y analizar las vivencias de los padres de niños con enfermedad de Hirschsprung o malformaciones anorrectales bajo seguimiento tras haber sido sometidos a cirugía. Materiales y métodos. Se hizo un estudio cualitativo con un enfoque fenomenológico mediante entrevistas a cinco padres de niños con enfermedad de Hirschsprung y a otros cinco de niños con malformaciones anorrectales. Resultados. Se encontraron experiencias comunes, de las cuales surgieron los siguientes temas: a) el diagnóstico difícil, debido a los sentimientos y al impacto generados por la noticia, situación que no siempre es detectada tempranamente por el personal de salud; b) el tratamiento, el cual provoca aislamiento social por las hospitalizaciones y la presencia de una ostomía, además de que los recursos se concentran en el niño en detrimento del hogar; se requiere capacidad de afrontamiento para lograr la reparación quirúrgica definitiva, y c) el contexto, ya que las instituciones de salud pueden convertirse en barreras; además, el personal de salud debe disponer de mayor educación al respecto y son necesarias las redes de apoyo social. Conclusión. Las vivencias reflejan que el diagnóstico, el tratamiento y el contexto generan un gran impacto en las vidas de los padres o cuidadores de niños con estas condiciones.

Vivencias de los padres o cuidadores de niños con enfermedad de Hirschsprung o con malformaciones anorrectales, bajo seguimiento después de la cirugía / Experiences of parents and/or caretakers of children with Hirschsprung's disease or anorectal malformations during follow-up after pediatric surgery

Resumen Introducción. La enfermedad de Hirschsprung y las malformaciones anorrectales son enfermedades que afectan a los niños y comprometen su vida desde el nacimiento, por lo que su diagnóstico y tratamiento temprano son esenciales. Las comorbilidades que implican a largo plazo llevan a los padres y cuidadores a situaciones que pueden generar graves complicaciones para el niño si no se cuenta con el acompañamiento adecuado. Objetivo. Describir y analizar las vivencias de los padres de niños con enfermedad de Hirschsprung o malformaciones anorrectales bajo seguimiento tras haber sido sometidos a cirugía. Materiales y métodos. Se hizo un estudio cualitativo con un enfoque fenomenológico mediante entrevistas a cinco padres de niños con enfermedad de Hirschsprung y a otros cinco de niños con malformaciones anorrectales. Resultados. Se encontraron experiencias comunes, de las cuales surgieron los siguientes temas: a) el diagnóstico difícil, debido a los sentimientos y al impacto generados por la noticia, situación que no siempre es detectada tempranamente por el personal de salud; b) el tratamiento, el cual provoca aislamiento social por las hospitalizaciones y la presencia de una ostomía, además de que los recursos se concentran en el niño en detrimento del hogar; se requiere capacidad de afrontamiento para lograr la reparación quirúrgica definitiva, y c) el contexto, ya que las instituciones de salud pueden convertirse en barreras; además, el personal de salud debe disponer de mayor educación al respecto y son necesarias las redes de apoyo social. Conclusión. Las vivencias reflejan que el diagnóstico, el tratamiento y el contexto generan un gran impacto en las vidas de los padres o cuidadores de niños con estas condiciones.

Abstract Introduction: Hirschsprung's disease and anorectal malformations are pathologies that affect the pediatric population and compromise life from birth, making diagnosis and early treatment essential. The comorbidities they lead to in the long-term take parents and caretakers to situations that, without proper accompaniment, can generate serious complications in the child. Objective: To describe the meaning of the experiences of parents of children with Hirschsprung's disease or anorectal malformations who have had surgical treatment and are being followed-up. Materials and methods: This was a phenomenological qualitative research carried out through interviews with five parents of children with Hirschsprung's disease and five parents of children with anorectal malformations. Results: We found common experiences from which the following topics emerged: a) Difficult diagnosis, which involves the feelings and the impact generated by receiving this news; for health personnel it is not always a situation that is identified early; b) treatment: Social isolation due to hospitalizations and the presence of an ostomy, in addition to the channeling of resources for the child at the expense of those of the home; coping skills are required to achieve definitive surgical repair; and c) context: Health institutions may become barriers and health personnel must have more education in this regard; social support networks are necessary. Conclusion: The experiences reflected that diagnosis, treatment, and context generated great impact on the lives of parents and/or caretakers of children with these pathologies.

Abnormal expression of TBX4 during anorectal development in rat embryos with ethylenethiourea-induced anorectal malformations

BACKGROUND: To assess the expression of T-box transcription factor 4 (TBX4) during the anorectal development in normal and ethylenethiourea (ETU)-induced anorectal malformations (ARM) rat embryos. METHODS: Anorectal malformations was induced by ETU on the 10th gestational day (E10) in rat embryos. Spatiotemporal expression of TBX4 was evaluated in normal (n = 490) and ETU-induced ARM rat embryos (n = 455) from E13 to E16 by immunohistochemical staining, Western blot analysis and real-time RT-PCR. RESULTS: In the normal embryos, immunohistochemical staining revealed that TBX4 expression was detected in the epithelium of hindgut and urorectal septum (URS) on E13. TBX4-immunopositive cells were increased significantly in the epithelium of hindgut and URS, the future anal orifice part of cloacal membrane on E14. On E15, abundant stained cells were observed in the rectum, URS and dorsal cloacal membrane and the expression of positive cells reached its peak. On E16, only sporadic positive cells were distributed in the epithelium of the distal rectum. In the ARM embryos, the hindgut/rectum, URS and dorsal cloacal membrane were faint for TBX4 immunohistochemical staining. In the normal group, TBX4 protein and mRNA expression showed time-dependent changes in the hindgut/rectum from E13 to E16 on Western blot and real-time RT-PCR. On E13 and E15, the expression level of TBX4 mRNA in the ARM group was significantly lower than that in the normal group (P < 0.05). On E15, the expression level of TBX4 protein in the ARM group was significantly lower than that in the normal group (P < 0.05). CONCLUSIONS: The expression of TBX4 was downregulated in ETU-induced ARM embryos, which may play important roles in the pathogenesis of anorectal development.

Cuidado de transición de la adolescencia a la edad adulta / Transitional care from adolescence to adulthood

RESUMEN El cuidado de transición tiene como objetivo facilitar la transferencia efectiva de niños que padecen enfermedades crónicas al personal médico encargado de la atención del adulto, garantizando el apropiado manejo a largo plazo, la identificación temprana de posibles complicaciones, la reducción de la morbilidad y los costos en la prestación de los servicios de salud. En varios países, existen avances significativos acerca de este concepto, en los que se ha llegado incluso a establecer un consenso sobre los aspectos necesarios para el desarrollo del cuidado transicional, el cual comprende los principios generales desde la política hasta su implementación, alcanzando buenos resultados en los pacientes. A pesar de estos avances, en muchos países como Colombia, donde la población pediátrica que padece enfermedades crónicas que llegan a la adolescencia y que alcanzan la edad adulta viene en aumento, poco se conoce sobre el cuidado transicional, siendo necesario que se generen investigaciones y trabajos interdisciplinarios para atender las múltiples necesidades de esta población emergente, de sus familiares y cuidadores.(AU)

ABSTRACT Transitional care aims to facilitate the effective transfer of children suffering from chronic diseases to the medical staff in charge of adult care, ensuring appropriate long-term management, early identification of possible complications, and reduction of morbidity and costs associated with the provision of health services. In several countries, significant progress in this regard has been made, and even consensus on the aspects necessary for the development of transitional care has been reached, including the general principles from the policy to its implementation, with good results in the patients. Despite these advances, in many countries such as Colombia, where the pediatric population suffering from chronic diseases that reach adolescence and then adulthood Is on the rise, little is known about transitional care. It is necessary to generate research and interdisciplinary works to meet the multiple needs of this emerging population, their families and caregivers.(AU)

O ultrassom anorretal tridimensional pode ser incluído como um método diagnóstico na avaliação da fístula anal antes e após o tratamento cirúrgico? / Can three-dimensional anorectal ultrasonography be included as a diagnostic tool for the assessment of anal fistula before and after surgical treatment?

ABSTRACT BACKGROUND: There is no a clear knowledge concerning the division of any part of the anal sphincter complex and the effect of this procedure on the function of the anal canal during the treatment of perianal fistula. OBJECTIVE: To evaluate the usefulness of 3D anorectal ultrasound in the assessment of anal fistula, quantifying the length of the sphincter muscle to be transected, selecting patients for different approaches and identifying healing, failure or recurrence after the surgical treatment. METHODS: A prospective study included patients with primarily cryptogenic transsphincteric anal fistula assessed by fecal Incontinence score, tri-dimensional anorectal ultrasound and anal manometry before and after surgery. Based on 3D-AUS, patients with ≥50% external sphincter or external sphincter+puborectalis muscle involvement in males and ≥40% external sphincter or external sphincter+puborectalis muscle in females were referred for the ligation of the intersphincteric tract (LIFT) or seton placement and subsequent fistulotomy; and with <50% involvement in males and <40% in females were referred to one-stage fistulotomy. After surgery, the fibrosis (muscles divided) and residual muscles were measured and compared with the pre-operative. RESULTS: A total of 73 patients was included. The indication for the LIFT was significantly higher in females (47%), one-stage fistulotomy was significantly higher in the males (46%) and similar in seton placement. The minor postoperative incontinence was identified in 31% of patients underwent sphincter divided and were similar in both genders. The 3D-AUS identified seven failed cases. CONCLUSION: The 3D ultrasound was shown to be an effective method in the preoperative assessment of anal fistulas by quantifying the length of muscle to be divided, as the results were similar at the post-operative, providing a safe treatment approach according to the gender and percentage of muscle involvement. Additionally, 3D ultrasound successfully identified the healing tissue and the type of failure or recurrence.

RESUMO CONTEXTO: Não há dados definitivos quanto a níveis diferentes na secção do complexo esfincteriano e o efeito na função do canal anal no tratamento das fístulas anais. OBJETIVO: Avaliar a aplicação do ultrassom anorretal tridimensional no diagnóstico da fístula anal, quantificando o comprimento da musculatura que será seccionada, selecionando pacientes para diferente abordagens e identificando cicatrização e recorrência após tratamento. MÉTODOS: Um estudo prospectivo incluindo paciente portadores de fístula anal criptoglandular, tipo trans-esfinctérica avaliados pelo escore de incontinência fecal, ultrassom anorretal 3D e manometria anorretal antes e após a cirurgia. De acordo com os dados do ultrassom, pacientes do sexo masculino com envolvimento ≥50% do esfíncter externo anterior ou esfíncter externo+puborretal e do sexo feminino com envolvimento ≥40% foram referidos para cirurgia de ligadura do trajeto no espaço inter-esfinctérico (LIFT) ou colocação do sedenho. Aqueles com envolvimento <50% em homens e <40% mulheres foram indicados para fistulotomia em um tempo. Após a cirurgia, a musculatura secccionada (fibrose) e o músculo residual foram medidos e comparados no pós-operatório. RESULTADOS: Um total de 73 pacientes foi incluído. A indicação para LIFT foi significativamente maior em mulheres (47%) e a fistulotomia em homens (46%) e o sedenho similar em ambos os sexos. Sintomas de incontinência leve foi identificado em 31% dos submetidos à cirurgia com divisão de esfíncter e similar em ambos os sexos. O ultrassom identificou sete casos que não cicatrizaram. CONCLUSÃO: O ultrassom anorretal tridimensional demonstrou ser um método efetivo na avaliação da fístula anal, quantificando o comprimento do esfíncter a ser dividido, como demonstrado no resultado pós-operatório, fornecendo um tratamento seguro de acordo com sexo e percentual de músculo envolvido. Adicionalmente, identifica o tecido cicatrizado, tipo de recorrência e a falha no tratamento.

Healthcare Utilization and Comorbidities Associated with Anorectal Malformations in the United States.

OBJECTIVE: To determine nationwide prevalence and healthcare utilization in children with anorectal malformations and associated anomalies over a 6-year period. STUDY DESIGN: We used the Kids' Inpatient Database for the years 2006, 2009, and 2012 for data collection. International Classification of Diseases, Ninth Revision codes were used to identify patients with anorectal malformations and associated anomalies. RESULTS: A total of 2396 children <2 years of age with anorectal malformations were identified using weighted analysis; 54.3% of subjects were male. The ethnic subgroups were 40.1% white, 23.6% Hispanic, 9.3% African American, and 27% other ethnicity. Other congenital anomalies were reported in 80% of anorectal malformations and were closely associated with increased length of stay and costs. A genetic disorder was identified in 14.1% of the sample. Urogenital anomalies were present in 38.5%, heart anomalies in 21.2%, and 8.6% had vertebral anomalies, anal atresia, cardiac defects, tracheoesophageal fistula and/or esophageal atresia, renal anomalies, and limb defects association. Anorectal malformations with other anomalies including vertebral anomalies, anal atresia, cardiac defects, tracheoesophageal fistula and/or esophageal atresia, renal anomalies, and limb defects association incurred significant hospital charges when compared with anorectal malformations alone. The average annual healthcare expenditure for surgical correction of anorectal malformations and associated anomalies for the 3 years was US $45.5 million. CONCLUSIONS: This large, major nationally representative study shows that majority of children with anorectal malformations have additional congenital anomalies that deserve prompt recognition. The high complexity and need for lifelong multidisciplinary management is associated with substantial healthcare expenditure. This information complements future healthcare resource allocation and planning for management of children with anorectal malformations.

Health-related quality of life in children and adolescents undergoing surgery for Hirschsprung´s disease and anorectal malformations / Calidad de vida relacionada con la salud en niños y adolescentes con cirugía de enfermedad de Hirschsprung y malformaciones anorrectales

Purpose. The objective was to describe health related quality of life (HRQoL) after surgery for Hirschsprungs disease (HD) and anorectal malformations (ARMs) in children according to their own perception and that of their parents, by different age groups, the presence of functional disorders, and diet indication. Methods. This is a cross-sectional descriptive study. Participants were patients aged 2-18 years old and their parents. The study was conducted from June 2008 to May 2009. The instrument used was the PedsQL TM 4.0. Data were analyzed with SPSS version 11.5. Results. A total of 93 families gave their consent to participate. Higher scores indicated a better HRQoL. Parents showed a trend towards obtaining higher scores in the three scales analyzed. There were no differences observed in the various age groups. The lowest scores were obtained in incontinent, pseudo-incontinent and constipated patients with statistically significant differences according to the parents´ reports when compared to the patients who had no functional disorders. When analyzing dietary therapy, patients who were on a controlled protein and low sodium diet together with a suitable intestinal function obtained lower scores. Conclusion. The presence of postoperative functional disorders had a negative impact on the scores. Incontinent, pseudo-incontinent and constipated patients had the lowest scores, as well as those who had a stricter diet.(AU)

Introducción/Objetivos. Los resultados postoperatorios de la enfermedad de Hirschsprung y malformaciones anorrectales son satisfactorios, pero muchos pacientes mantienen disfunciones intestinales. Estudiar la calidad de vida relacionada con la salud facilita el conocimiento del estado de salud y mejora la elección de estrategias de tratamiento. Los objetivos del estudio fueron describir la CVRS en niños luego de la cirugía correctora definitiva, según su propia percepción y la de sus padres. A su vez, evaluar la calidad de vida relacionada con la salud según grupo etario, presencia de trastornos funcionales postoperatorios y la indicación dietoterápica. Materiales y métodos. Estudio descriptivo, transversal. Participaron niños de 2-18 años y sus padres al concurrir al consultorio en el período de junio 2008-mayo 2009. Una vez obtenidos el consentimiento y asentimiento informado se aplicó el cuestionario genérico PedsQLtm. Paquete estadístico SPSS11.5. Resultados. Participaron 93 pacientes, 32% con enfermedad de Hirschsprung y 68% con malformaciones anorrectales. La mediana de edad fue de 7 años (intervalo 2-18). Puntuaciones más altas indican mejor calidad de vida. Los padres obtuvieron puntuaciones superiores a las de los niños en todas las escalas analizadas. No se observaron diferencias según los distintos grupos etarios. Se obtuvieron puntuaciones más bajas, con diferencias estadísticamente significativas según los padres, en los pacientes incontinentes y constipados. Resultados similares se observaron en pacientes con indicación dietoterápica, especialmente las dietas adecuadas a patologías renal y digestiva. Las puntuaciones más bajas se encontraron en los dominios total y psicosocial. Conclusión. La presencia de incontinencia y constipación repercute negativamente sobre la calidad de vida de los niños, así como la realización de dietas con las puntuaciones más bajas cuanto más restrictivas son aquéllas.(AU)

Health-related quality of life in children and adolescents undergoing surgery for Hirschsprung´s disease and anorectal malformations / Calidad de vida relacionada con la salud en niños y adolescentes con cirugía de enfermedad de Hirschsprung y malformaciones anorrectales

Purpose. The objective was to describe health related quality of life (HRQoL) after surgery for Hirschsprung's disease (HD) and anorectal malformations (ARMs) in children according to their own perception and that of their parents, by different age groups, the presence of functional disorders, and diet indication. Methods. This is a cross-sectional descriptive study. Participants were patients aged 2-18 years old and their parents. The study was conducted from June 2008 to May 2009. The instrument used was the PedsQL TM 4.0. Data were analyzed with SPSS version 11.5. Results. A total of 93 families gave their consent to participate. Higher scores indicated a better HRQoL. Parents showed a trend towards obtaining higher scores in the three scales analyzed. There were no differences observed in the various age groups. The lowest scores were obtained in incontinent, pseudo-incontinent and constipated patients with statistically significant differences according to the parents´ reports when compared to the patients who had no functional disorders. When analyzing dietary therapy, patients who were on a controlled protein and low sodium diet together with a suitable intestinal function obtained lower scores. Conclusion. The presence of postoperative functional disorders had a negative impact on the scores. Incontinent, pseudo-incontinent and constipated patients had the lowest scores, as well as those who had a stricter diet.

Introducción/Objetivos. Los resultados postoperatorios de la enfermedad de Hirschsprung y malformaciones anorrectales son satisfactorios, pero muchos pacientes mantienen disfunciones intestinales. Estudiar la calidad de vida relacionada con la salud facilita el conocimiento del estado de salud y mejora la elección de estrategias de tratamiento. Los objetivos del estudio fueron describir la CVRS en niños luego de la cirugía correctora definitiva, según su propia percepción y la de sus padres. A su vez, evaluar la calidad de vida relacionada con la salud según grupo etario, presencia de trastornos funcionales postoperatorios y la indicación dietoterápica. Materiales y métodos. Estudio descriptivo, transversal. Participaron niños de 2-18 años y sus padres al concurrir al consultorio en el período de junio 2008-mayo 2009. Una vez obtenidos el consentimiento y asentimiento informado se aplicó el cuestionario genérico PedsQLtm. Paquete estadístico SPSS11.5. Resultados. Participaron 93 pacientes, 32% con enfermedad de Hirschsprung y 68% con malformaciones anorrectales. La mediana de edad fue de 7 años (intervalo 2-18). Puntuaciones más altas indican mejor calidad de vida. Los padres obtuvieron puntuaciones superiores a las de los niños en todas las escalas analizadas. No se observaron diferencias según los distintos grupos etarios. Se obtuvieron puntuaciones más bajas, con diferencias estadísticamente significativas según los padres, en los pacientes incontinentes y constipados. Resultados similares se observaron en pacientes con indicación dietoterápica, especialmente las dietas adecuadas a patologías renal y digestiva. Las puntuaciones más bajas se encontraron en los dominios total y psicosocial. Conclusión. La presencia de incontinencia y constipación repercute negativamente sobre la calidad de vida de los niños, así como la realización de dietas con las puntuaciones más bajas cuanto más restrictivas son aquéllas.